BLM (BLM RecQ like helicase) - Rat Genome Database

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Gene: BLM (BLM RecQ like helicase) Homo sapiens
Analyze
Symbol: BLM
Name: BLM RecQ like helicase
RGD ID: 1318795
HGNC Page HGNC:1058
Description: Enables several functions, including ATP binding activity; DNA binding activity; and DNA helicase activity. Involved in several processes, including DNA geometric change; DNA metabolic process; and regulation of primary metabolic process. Located in chromosome, telomeric region; cytosol; and nuclear lumen. Part of RecQ family helicase-topoisomerase III complex. Implicated in Bloom syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Bloom syndrome protein; Bloom syndrome RecQ like helicase; Bloom syndrome, RecQ helicase-like; BS; DNA 3'-5' helicase BLM; DNA helicase, RecQ-like type 2; MGC126616; MGC131618; MGC131620; MGRISCE1; recQ protein-like 3; recQ-like DNA helicase BLM; RECQ2; RECQL2; RECQL3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,717,346 - 90,816,166 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,717,346 - 90,816,166 (+)Ensemblhg38GRCh38
GRCh371591,260,577 - 91,359,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,061,583 - 89,159,690 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341589,061,605 - 89,159,601NCBI
Celera1567,669,191 - 67,767,281 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,371,963 - 67,470,518 (+)NCBIHuRef
CHM1_11591,102,306 - 91,200,343 (+)NCBICHM1_1
T2T-CHM13v2.01588,475,676 - 88,575,539 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(S)-colchicine  (EXP)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,2'-Methylenebis(4-methyl-6-tert-butylphenol)  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
5-fluorouracil  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
adenine  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
DDE  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
hydroxyurea  (EXP)
imiquimod  (ISO)
Lasiocarpine  (EXP)
lead(0)  (EXP)
lucanthone  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methyl methanesulfonate  (EXP)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
Monobutylphthalate  (ISO)
monocrotaline  (EXP)
monoethyl phthalate  (ISO)
nickel atom  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
oxybenzone  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
Pf-06840003  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP,ISO)
quinoline yellow  (EXP)
resveratrol  (EXP,ISO)
riddelliine  (EXP)
sodium arsenite  (EXP)
succimer  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP,ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
VX nerve agent  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-beta T cell differentiation  (ISO)
alpha-beta T cell proliferation  (ISO)
cellular response to camptothecin  (IDA)
cellular response to hydroxyurea  (IDA)
cellular response to ionizing radiation  (IDA)
cellular response to xenobiotic stimulus  (ISO)
chromosome organization  (ISO)
DN4 thymocyte differentiation  (ISO)
DNA damage response  (IDA,IEA,IMP)
DNA double-strand break processing  (IDA)
DNA geometric change  (IDA,IEA,ISS)
DNA recombination  (IEA,NAS)
DNA repair  (IEA,ISO,NAS)
DNA replication  (IBA,IEA,ISS)
double-strand break repair via homologous recombination  (IBA,IDA,IEA,NAS)
immature T cell proliferation in thymus  (ISO)
mitotic G2 DNA damage checkpoint signaling  (IDA)
mitotic recombination  (ISO)
negative regulation of cell division  (IMP)
negative regulation of DNA recombination  (IEA,IMP)
negative regulation of mitotic recombination  (ISO)
negative regulation of thymocyte apoptotic process  (ISO)
positive regulation of alpha-beta T cell proliferation  (ISO)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of double-strand break repair via homologous recombination  (ISO)
positive regulation of immature T cell proliferation in thymus  (ISO)
protein complex oligomerization  (IDA)
protein homooligomerization  (IDA)
regulation of cyclin-dependent protein serine/threonine kinase activity  (IMP)
replication fork processing  (IDA,IEA)
replication-born double-strand break repair via sister chromatid exchange  (ISO)
resolution of DNA recombination intermediates  (IDA)
response to X-ray  (IDA)
t-circle formation  (TAS)
telomere maintenance  (IBA,IDA,IEA,ISO)
telomere maintenance via semi-conservative replication  (TAS)
telomeric D-loop disassembly  (IDA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal CD8+ T cell proportion  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormally high-pitched voice  (IAGP)
Abscess  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Adipose tissue loss  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bronchiectasis  (IAGP)
Bronchitis  (IAGP)
Cafe-au-lait spot  (IAGP)
Cheilitis  (IAGP)
Chromosome breakage  (IAGP)
Chronic lung disease  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Colon cancer  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased circulating IgA concentration  (IAGP)
Decreased circulating IgG concentration  (IAGP)
Decreased circulating immunoglobulin concentration  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased fertility in females  (IAGP)
Decreased head circumference  (IAGP)
Decreased proportion of CD4-positive T cells  (IAGP)
Diabetes mellitus  (IAGP)
Dolichocephaly  (IAGP)
Elevated hemoglobin A1c  (IAGP)
Endometrial carcinoma  (IAGP)
Esophageal neoplasm  (IAGP)
Facial erythema  (IAGP)
Facial telangiectasia in butterfly midface distribution  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Growth delay  (IAGP)
Hand polydactyly  (IAGP)
Hepatic steatosis  (IAGP)
Hypertrichosis  (IAGP)
Hypopigmentation of the skin  (IAGP)
Infantile onset  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Leukemia  (IAGP)
Lymphoma  (IAGP)
Malar flattening  (IAGP)
Malar rash  (IAGP)
Male infertility  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Myelodysplasia  (IAGP)
Narrow face  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the colon  (IAGP)
Neoplasm of the skin  (IAGP)
Nephroblastoma  (IAGP)
Oligozoospermia  (IAGP)
Otitis media  (IAGP)
Ovarian neoplasm  (IAGP)
Paronychia  (IAGP)
Patchy alopecia  (IAGP)
Pneumonia  (IAGP)
Poikiloderma  (IAGP)
Poor appetite  (IAGP)
Postnatal growth retardation  (IAGP)
Premature ovarian insufficiency  (IAGP)
Prominent nose  (IAGP)
Protruding ear  (IAGP)
Recurrent gastroenteritis  (IAGP)
Recurrent herpes  (IAGP)
Recurrent infections  (IAGP)
Recurrent tonsillitis  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Respiratory failure  (IAGP)
Respiratory tract infection  (IAGP)
Retinopathy  (IAGP)
Retrognathia  (IAGP)
Rhinitis  (IAGP)
Severe postnatal growth retardation  (IAGP)
Severe toxoplasmosis  (IAGP)
Severe varicella zoster infection  (IAGP)
Skin rash  (IAGP)
Small for gestational age  (IAGP)
Sparse eyelashes  (IAGP)
Specific learning disability  (IAGP)
Spotty hypopigmentation  (IAGP)
Squamous cell carcinoma  (IAGP)
Stomach cancer  (IAGP)
Syndactyly  (IAGP)
Telangiectasia  (IAGP)
Type II diabetes mellitus  (IAGP)
Uveitis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity. Brosh RM Jr, etal., J Biol Chem. 2000 Aug 4;275(31):23500-8.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Regulation of homologous recombination in eukaryotes. Heyer WD, etal., Annu Rev Genet. 2010;44:113-39. doi: 10.1146/annurev-genet-051710-150955.
4. BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Kaneko H, etal., Biochem Biophys Res Commun. 1997 Nov 17;240(2):348-53.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Nuclear structure in normal and Bloom syndrome cells. Yankiwski V, etal., Proc Natl Acad Sci U S A. 2000 May 9;97(10):5214-9.
Additional References at PubMed
PMID:1518822   PMID:7585968   PMID:8022833   PMID:9285778   PMID:9388193   PMID:9671747   PMID:10359700   PMID:10728666   PMID:10734115   PMID:10783165   PMID:10823897   PMID:10851073  
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PMID:11691925   PMID:11716541   PMID:11735402   PMID:11741924   PMID:11781842   PMID:11790298   PMID:11876000   PMID:11877377   PMID:11916980   PMID:11919194   PMID:11950880   PMID:11960380  
PMID:12019152   PMID:12034743   PMID:12080066   PMID:12181313   PMID:12242432   PMID:12433984   PMID:12444098   PMID:12477932   PMID:12606585   PMID:12702560   PMID:12724401   PMID:12818200  
PMID:12826610   PMID:12973351   PMID:12974384   PMID:12975363   PMID:14517203   PMID:14576316   PMID:14685245   PMID:14688284   PMID:14729972   PMID:15064730   PMID:15143166   PMID:15229185  
PMID:15231747   PMID:15257300   PMID:15289897   PMID:15302935   PMID:15342556   PMID:15364958   PMID:15489334   PMID:15509577   PMID:15539948   PMID:15579905   PMID:15604258   PMID:15616572  
PMID:15635413   PMID:15726604   PMID:15750625   PMID:15775963   PMID:15805243   PMID:15806145   PMID:15829507   PMID:15845538   PMID:15959913   PMID:15965237   PMID:15990871   PMID:16030011  
PMID:16116422   PMID:16199871   PMID:16326861   PMID:16344560   PMID:16412221   PMID:16524884   PMID:16537486   PMID:16565220   PMID:16595695   PMID:16620772   PMID:16766518   PMID:16864798  
PMID:16876111   PMID:16880735   PMID:16964243   PMID:17115688   PMID:17407155   PMID:17457718   PMID:17500065   PMID:17591918   PMID:17599064   PMID:17603497   PMID:17634426   PMID:17728255  
PMID:17855454   PMID:17878217   PMID:17943968   PMID:17961633   PMID:17984114   PMID:18003860   PMID:18029348   PMID:18054789   PMID:18264947   PMID:18270339   PMID:18278455   PMID:18390547  
PMID:18401830   PMID:18448429   PMID:18471088   PMID:18562274   PMID:18676680   PMID:18682526   PMID:18708356   PMID:18971343   PMID:18974064   PMID:18978339   PMID:19015241   PMID:19109166  
PMID:19165145   PMID:19170196   PMID:19205873   PMID:19237606   PMID:19329795   PMID:19432957   PMID:19442250   PMID:19465921   PMID:19500012   PMID:19542097   PMID:19573080   PMID:19578796  
PMID:19625176   PMID:19632996   PMID:19661064   PMID:19671661   PMID:19692168   PMID:19714462   PMID:19734539   PMID:19773279   PMID:19913121   PMID:19917125   PMID:19935873   PMID:19945966  
PMID:19956565   PMID:20064461   PMID:20154148   PMID:20211839   PMID:20215422   PMID:20237496   PMID:20301471   PMID:20301572   PMID:20347428   PMID:20347429   PMID:20360068   PMID:20445207  
PMID:20447876   PMID:20467437   PMID:20628086   PMID:20639533   PMID:20711169   PMID:20719863   PMID:20739603   PMID:20800603   PMID:20813000   PMID:20826342   PMID:21111748   PMID:21113733  
PMID:21123383   PMID:21129251   PMID:21145461   PMID:21240188   PMID:21300576   PMID:21325134   PMID:21466675   PMID:21567087   PMID:21712816   PMID:21736299   PMID:21743438   PMID:21815139  
PMID:21873635   PMID:22106380   PMID:22253018   PMID:22272300   PMID:22343915   PMID:22356911   PMID:22544709   PMID:22563370   PMID:22586326   PMID:22705371   PMID:22989712   PMID:23028338  
PMID:23084401   PMID:23129629   PMID:23225144   PMID:23253856   PMID:23261817   PMID:23268311   PMID:23322570   PMID:23404160   PMID:23508102   PMID:23509288   PMID:23543748   PMID:23572515  
PMID:23708797   PMID:23750012   PMID:24095737   PMID:24096176   PMID:24104479   PMID:24108125   PMID:24118499   PMID:24126761   PMID:24162774   PMID:24239288   PMID:24257077   PMID:24332808  
PMID:24699063   PMID:24705021   PMID:24797263   PMID:24816114   PMID:24858046   PMID:24895130   PMID:24958861   PMID:24984776   PMID:25015292   PMID:25084169   PMID:25122754   PMID:25129257  
PMID:25135477   PMID:25182961   PMID:25472581   PMID:25544563   PMID:25588990   PMID:25609649   PMID:25673821   PMID:25766002   PMID:25794620   PMID:25901030   PMID:26028025   PMID:26186194  
PMID:26358404   PMID:26474068   PMID:26496610   PMID:26638075   PMID:26778106   PMID:26831064   PMID:26972000   PMID:27083049   PMID:27100209   PMID:27169843   PMID:27173435   PMID:27183383  
PMID:27238185   PMID:27248496   PMID:27407146   PMID:27427384   PMID:27453043   PMID:27601585   PMID:27612385   PMID:27723720   PMID:27880917   PMID:27918544   PMID:28228481   PMID:28506294  
PMID:28514442   PMID:28673972   PMID:28877996   PMID:28912125   PMID:29017749   PMID:29042409   PMID:29128334   PMID:29180619   PMID:29331416   PMID:29348659   PMID:29385443   PMID:29388204  
PMID:29395067   PMID:29467282   PMID:29509190   PMID:29523790   PMID:29568061   PMID:29576527   PMID:29656893   PMID:29764989   PMID:30044990   PMID:30110632   PMID:30279242   PMID:30295604  
PMID:30415952   PMID:30464262   PMID:30496191   PMID:30585729   PMID:30804394   PMID:30804502   PMID:30884312   PMID:30936263   PMID:31091453   PMID:31153714   PMID:31171703   PMID:31180492  
PMID:31210839   PMID:31447390   PMID:31527615   PMID:31544923   PMID:31586073   PMID:31772289   PMID:31816118   PMID:31918214   PMID:31977077   PMID:32416067   PMID:32433965   PMID:32704157  
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PMID:33832920   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34197737   PMID:34244565   PMID:34299191   PMID:34349018   PMID:34370039   PMID:34606619   PMID:34780483  
PMID:34795231   PMID:34868226   PMID:35102151   PMID:35140242   PMID:35218564   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35509820   PMID:35831314   PMID:35844135   PMID:35915203  
PMID:35922882   PMID:36004459   PMID:36089195   PMID:36092721   PMID:36373674   PMID:36424410   PMID:36774506   PMID:36912080   PMID:37059091   PMID:37071664   PMID:37415147   PMID:37503837  
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Genomics

Comparative Map Data
BLM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,717,346 - 90,816,166 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,717,346 - 90,816,166 (+)Ensemblhg38GRCh38
GRCh371591,260,577 - 91,359,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,061,583 - 89,159,690 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341589,061,605 - 89,159,601NCBI
Celera1567,669,191 - 67,767,281 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,371,963 - 67,470,518 (+)NCBIHuRef
CHM1_11591,102,306 - 91,200,343 (+)NCBICHM1_1
T2T-CHM13v2.01588,475,676 - 88,575,539 (+)NCBIT2T-CHM13v2.0
Blm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39780,104,839 - 80,184,896 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl780,104,481 - 80,184,867 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38780,454,993 - 80,535,148 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl780,454,733 - 80,535,119 (-)Ensemblmm10GRCm38
MGSCv37787,599,879 - 87,680,005 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36780,328,605 - 80,408,501 (-)NCBIMGSCv36mm8
Celera777,855,450 - 77,935,749 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.65NCBI
Blm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81143,819,072 - 143,905,300 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1143,819,090 - 143,905,210 (-)EnsemblGRCr8
mRatBN7.21134,409,832 - 134,496,073 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1134,409,857 - 134,484,312 (-)EnsemblmRatBN7.2
Rnor_6.01142,246,773 - 142,332,616 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1142,246,790 - 142,332,588 (-)Ensemblrn6Rnor6.0
Rnor_5.01143,198,619 - 143,285,603 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41136,271,573 - 136,358,077 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1126,469,103 - 126,554,926 (-)NCBICelera
RGSC_v3.11136,350,811 - 136,606,090 (-)NCBI
Cytogenetic Map1q31NCBI
Blm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541614,842,033 - 14,899,687 (+)Ensembl
ChiLan1.0NW_00495541614,814,753 - 14,899,865 (+)NCBIChiLan1.0ChiLan1.0
BLM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21680,267,894 - 80,368,918 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11583,965,915 - 84,066,920 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01569,407,248 - 69,508,070 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11588,607,157 - 88,707,864 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1588,607,157 - 88,707,864 (+)EnsemblpanPan2panpan1.1
BLM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1353,408,120 - 53,506,728 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl353,408,217 - 53,473,146 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha356,045,661 - 56,144,322 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0353,824,072 - 53,922,767 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl353,824,080 - 53,922,707 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1353,343,266 - 53,441,845 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0353,555,047 - 53,653,568 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0353,894,900 - 53,993,588 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Blm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640130,038,668 - 130,140,428 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648316,194,092 - 16,255,905 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493648316,194,092 - 16,295,803 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl753,317,540 - 53,412,645 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1753,317,515 - 53,412,649 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2758,374,719 - 58,443,673 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BLM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1299,046,485 - 9,152,320 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl299,045,373 - 9,152,254 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605937,540,996 - 37,654,124 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Blm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476817,421,291 - 17,522,799 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476817,422,267 - 17,522,894 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in BLM
4383 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000057.4(BLM):c.918A>G (p.Glu306=) single nucleotide variant Bloom syndrome [RCV000554754]|Hereditary cancer-predisposing syndrome [RCV002256335] Chr15:90751905 [GRCh38]
Chr15:91295135 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2037A>G (p.Ala679=) single nucleotide variant Bloom syndrome [RCV005056223]|Hereditary cancer-predisposing syndrome [RCV000566470] Chr15:90763120 [GRCh38]
Chr15:91306350 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp) single nucleotide variant Bloom syndrome [RCV000528775]|Hereditary cancer-predisposing syndrome [RCV001019904] Chr15:90798290 [GRCh38]
Chr15:91341520 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.842A>G (p.His281Arg) single nucleotide variant Bloom syndrome [RCV000529811]|Hereditary cancer-predisposing syndrome [RCV001017747]|not provided [RCV003478103] Chr15:90751829 [GRCh38]
Chr15:91295059 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys) single nucleotide variant Bloom syndrome [RCV000530372]|Hereditary cancer-predisposing syndrome [RCV001013713] Chr15:90763007 [GRCh38]
Chr15:91306237 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.782A>G (p.His261Arg) single nucleotide variant Bloom syndrome [RCV000526725] Chr15:90750050 [GRCh38]
Chr15:91293280 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu) single nucleotide variant Bloom syndrome [RCV001829605]|Hereditary cancer-predisposing syndrome [RCV000561947] Chr15:90763052 [GRCh38]
Chr15:91306282 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) single nucleotide variant Bloom syndrome [RCV000526943]|Hereditary cancer-predisposing syndrome [RCV001016335]|not provided [RCV004777705]|not specified [RCV002282201] Chr15:90784954 [GRCh38]
Chr15:91328184 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.261G>A (p.Lys87=) single nucleotide variant Bloom syndrome [RCV001084544]|Hereditary cancer-predisposing syndrome [RCV000576007]|not provided [RCV000728499] Chr15:90749529 [GRCh38]
Chr15:91292759 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3751+10C>G single nucleotide variant Bloom syndrome [RCV001276193] Chr15:90804369 [GRCh38]
Chr15:91347599 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) single nucleotide variant Bloom syndrome [RCV000550747]|Hereditary cancer-predisposing syndrome [RCV001011867]|not provided [RCV001788276] Chr15:90760863 [GRCh38]
Chr15:91304093 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe) single nucleotide variant Bloom syndrome [RCV000529683]|Hereditary cancer-predisposing syndrome [RCV003159710] Chr15:90790785 [GRCh38]
Chr15:91334015 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro) single nucleotide variant Bloom syndrome [RCV001858366]|Hereditary cancer-predisposing syndrome [RCV000567157] Chr15:90760811 [GRCh38]
Chr15:91304041 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) single nucleotide variant Bloom syndrome [RCV000553465]|Hereditary cancer-predisposing syndrome [RCV001013273]|not provided [RCV005231011] Chr15:90761198 [GRCh38]
Chr15:91304428 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg) single nucleotide variant BLM-related disorder [RCV003392414]|Bloom syndrome [RCV001227793]|Hereditary cancer-predisposing syndrome [RCV000568146] Chr15:90811397 [GRCh38]
Chr15:91354627 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2397T>C (p.Cys799=) single nucleotide variant Bloom syndrome [RCV000524893]|Hereditary cancer-predisposing syndrome [RCV002456031] Chr15:90769222 [GRCh38]
Chr15:91312452 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1785A>T (p.Ser595=) single nucleotide variant Bloom syndrome [RCV000528528]|Hereditary cancer-predisposing syndrome [RCV001013171]|not specified [RCV001269111] Chr15:90761158 [GRCh38]
Chr15:91304388 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) single nucleotide variant Bloom syndrome [RCV000543241]|Hereditary cancer [RCV004701601]|Hereditary cancer-predisposing syndrome [RCV001019197]|not provided [RCV001800731] Chr15:90751921 [GRCh38]
Chr15:91295151 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.226C>A (p.Pro76Thr) single nucleotide variant Bloom syndrome [RCV000547942]|Hereditary cancer-predisposing syndrome [RCV001014996]|not provided [RCV004760552] Chr15:90749494 [GRCh38]
Chr15:91292724 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) deletion Bloom syndrome [RCV000531736]|Hereditary cancer-predisposing syndrome [RCV000562774] Chr15:90761227..90761229 [GRCh38]
Chr15:91304457..91304459 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) single nucleotide variant BLM-related disorder [RCV003900276]|Bloom syndrome [RCV000628621]|Hereditary cancer-predisposing syndrome [RCV000565575] Chr15:90749494 [GRCh38]
Chr15:91292724 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2453G>A (p.Arg818His) single nucleotide variant Bloom syndrome [RCV000532627]|Hereditary cancer-predisposing syndrome [RCV001015590] Chr15:90769484 [GRCh38]
Chr15:91312714 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2505C>G (p.Pro835=) single nucleotide variant BLM-related disorder [RCV003945352]|Bloom syndrome [RCV000870413]|Hereditary cancer-predisposing syndrome [RCV000563251] Chr15:90769536 [GRCh38]
Chr15:91312766 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2475G>C (p.Pro825=) single nucleotide variant Bloom syndrome [RCV001433565]|Hereditary cancer-predisposing syndrome [RCV002456032] Chr15:90769506 [GRCh38]
Chr15:91312736 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407dup (p.Trp803fs) duplication Bloom syndrome [RCV000035004]|not provided [RCV000598767] Chr15:90769437..90769438 [GRCh38]
Chr15:91312667..91312668 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2488dup (p.Thr830fs) duplication Bloom syndrome [RCV000035005]|Hereditary cancer-predisposing syndrome [RCV002426544] Chr15:90769518..90769519 [GRCh38]
Chr15:91312748..91312749 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1722_1724delinsTAA (p.Leu574_Ala575delinsPheLys) indel not specified [RCV000120245] Chr15:90761095..90761097 [GRCh38]
Chr15:91304325..91304327 [GRCh37]
Chr15:15q26.1		 not provided
NM_000057.4(BLM):c.1088-2A>G single nucleotide variant Bloom syndrome [RCV000034889] Chr15:90760145 [GRCh38]
Chr15:91303375 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1544dup (p.Asn515fs) duplication Bloom syndrome [RCV000034890]|Hereditary breast ovarian cancer syndrome [RCV001030453]|Hereditary cancer-predisposing syndrome [RCV001012119]|not provided [RCV003221789] Chr15:90760908..90760909 [GRCh38]
Chr15:91304138..91304139 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1628T>A (p.Leu543Ter) single nucleotide variant Bloom syndrome [RCV000034891] Chr15:90761001 [GRCh38]
Chr15:91304231 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2074+1G>T single nucleotide variant Bloom syndrome [RCV000034892] Chr15:90763158 [GRCh38]
Chr15:91306388 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) single nucleotide variant Bloom syndrome [RCV000034893]|Hereditary cancer-predisposing syndrome [RCV001014425]|not provided [RCV000317685] Chr15:90765319 [GRCh38]
Chr15:91308549 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2193+2T>G single nucleotide variant Bloom syndrome [RCV000034894] Chr15:90765416 [GRCh38]
Chr15:91308646 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2308-953_2555+4719del deletion Bloom syndrome [RCV000034895] Chr15:90768180..90774305 [GRCh38]
Chr15:91311410..91317535 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2406+2T>G single nucleotide variant Bloom syndrome [RCV001806715] Chr15:90769233 [GRCh38]
Chr15:91312463 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) deletion BLM-related disorder [RCV003944888]|Bloom syndrome [RCV000034897]|Hereditary cancer-predisposing syndrome [RCV000574956]|not provided [RCV001731330] Chr15:90769537..90769538 [GRCh38]
Chr15:91312767..91312768 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) single nucleotide variant Bloom syndrome [RCV001231693]|Hereditary cancer-predisposing syndrome [RCV002426543] Chr15:90782909 [GRCh38]
Chr15:91326139 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.275del (p.Asn92fs) deletion Bloom syndrome [RCV000034899] Chr15:90749543 [GRCh38]
Chr15:91292773 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2855G>T (p.Gly952Val) single nucleotide variant Bloom syndrome [RCV000034900] Chr15:90790680 [GRCh38]
Chr15:91333910 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2887C>T (p.His963Tyr) single nucleotide variant Bloom syndrome [RCV001869452]|not provided [RCV001801116] Chr15:90790712 [GRCh38]
Chr15:91333942 [GRCh37]
Chr15:15q26.1		 pathogenic|uncertain significance
NM_000057.4(BLM):c.2923del (p.Gln975fs) deletion BLM-related disorder [RCV003914913]|Bloom syndrome [RCV000034902]|Hereditary cancer-predisposing syndrome [RCV000571923]|not provided [RCV000115301] Chr15:90790747 [GRCh38]
Chr15:91333977 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.311C>A (p.Ser104Ter) single nucleotide variant Bloom syndrome [RCV002238626] Chr15:90749579 [GRCh38]
Chr15:91292809 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) single nucleotide variant Bloom syndrome [RCV000034904]|Hereditary cancer-predisposing syndrome [RCV000569697] Chr15:90794311 [GRCh38]
Chr15:91337541 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3191A>T (p.Asp1064Val) single nucleotide variant Bloom syndrome [RCV005015170]|Hereditary cancer-predisposing syndrome [RCV004519129] Chr15:90794338 [GRCh38]
Chr15:91337568 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3197G>A (p.Cys1066Tyr) single nucleotide variant Bloom syndrome [RCV000034906] Chr15:90794344 [GRCh38]
Chr15:91337574 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3223dup (p.Arg1075fs) duplication Bloom syndrome [RCV000034907] Chr15:90798202 [GRCh38]
Chr15:91341432 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3255_3256insT (p.Arg1086Ter) insertion Bloom syndrome [RCV000034908] Chr15:90798234..90798235 [GRCh38]
Chr15:91341464..91341465 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) single nucleotide variant Bloom syndrome [RCV001941615] Chr15:90798257 [GRCh38]
Chr15:91341487 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) deletion Bloom syndrome [RCV000034910]|Hereditary cancer-predisposing syndrome [RCV002453293] Chr15:90803637..90803638 [GRCh38]
Chr15:91346867..91346868 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.3558+1G>A single nucleotide variant Bloom syndrome [RCV003041245] Chr15:90803721 [GRCh38]
Chr15:91346951 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3587del (p.Ser1196fs) deletion Bloom syndrome [RCV002249299] Chr15:90804195 [GRCh38]
Chr15:91347425 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3681del (p.Lys1227fs) deletion Bloom syndrome [RCV000034913] Chr15:90804289 [GRCh38]
Chr15:91347519 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) duplication Bloom syndrome [RCV001247415]|Hereditary cancer-predisposing syndrome [RCV003162294]|not provided [RCV003441727] Chr15:90804334..90804335 [GRCh38]
Chr15:91347564..91347565 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) single nucleotide variant Bloom syndrome [RCV000034915]|Hereditary cancer-predisposing syndrome [RCV002354185] Chr15:90809232 [GRCh38]
Chr15:91352462 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.582del (p.Phe194fs) deletion Bloom syndrome [RCV002510331] Chr15:90749845 [GRCh38]
Chr15:91293075 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.772_773del (p.Leu258fs) microsatellite Bloom syndrome [RCV000034918]|Hereditary cancer-predisposing syndrome [RCV002399367]|not provided [RCV003162295] Chr15:90750036..90750037 [GRCh38]
Chr15:91293266..91293267 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000057.3(BLM):c.3751-?_*(177_?)del deletion Bloom syndrome [RCV000034919] Chr15:90804359..90815456 [GRCh38]
Chr15:91347589..91358686 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) deletion Bloom syndrome [RCV000005788] Chr15:90749825..90749827 [GRCh38]
Chr15:91293055..91293057 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) single nucleotide variant Bloom syndrome [RCV000005790] Chr15:90794254 [GRCh38]
Chr15:91337484 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.248A>G (p.Gln83Arg) single nucleotide variant BLM-related disorder [RCV003432654]|Bloom syndrome [RCV000628616]|Hereditary cancer-predisposing syndrome [RCV002431843] Chr15:90749516 [GRCh38]
Chr15:91292746 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2656C>A (p.His886Asn) single nucleotide variant Bloom syndrome [RCV000628618]|Hereditary cancer-predisposing syndrome [RCV002431844]|not provided [RCV004783827] Chr15:90782922 [GRCh38]
Chr15:91326152 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1346C>G (p.Ser449Cys) single nucleotide variant Bloom syndrome [RCV000628620]|Hereditary cancer-predisposing syndrome [RCV001010978] Chr15:90760719 [GRCh38]
Chr15:91303949 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg) single nucleotide variant BLM-related disorder [RCV004745509]|Bloom syndrome [RCV000628625]|Hereditary cancer-predisposing syndrome [RCV002358750]|not provided [RCV003237958] Chr15:90811252 [GRCh38]
Chr15:91354482 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1850T>C (p.Ile617Thr) single nucleotide variant Bloom syndrome [RCV000628628] Chr15:90761223 [GRCh38]
Chr15:91304453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu) single nucleotide variant Bloom syndrome [RCV000628654]|Hereditary cancer-predisposing syndrome [RCV001021330]|not provided [RCV004760659] Chr15:90809257 [GRCh38]
Chr15:91352487 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu) single nucleotide variant Bloom syndrome [RCV000628658]|Hereditary cancer-predisposing syndrome [RCV004025326] Chr15:90760155 [GRCh38]
Chr15:91303385 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg) single nucleotide variant Bloom syndrome [RCV000628670]|Hereditary cancer-predisposing syndrome [RCV002431847] Chr15:90766929 [GRCh38]
Chr15:91310159 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val) single nucleotide variant Bloom syndrome [RCV000628671]|Hereditary cancer-predisposing syndrome [RCV002343187] Chr15:90804293 [GRCh38]
Chr15:91347523 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile) single nucleotide variant Bloom syndrome [RCV000628672] Chr15:90804250 [GRCh38]
Chr15:91347480 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2407-5A>G single nucleotide variant Bloom syndrome [RCV000628683] Chr15:90769433 [GRCh38]
Chr15:91312663 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.861A>G (p.Pro287=) single nucleotide variant Bloom syndrome [RCV000628693]|Hereditary cancer-predisposing syndrome [RCV002377340] Chr15:90751848 [GRCh38]
Chr15:91295078 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) single nucleotide variant Bloom syndrome [RCV000628695]|Hereditary cancer-predisposing syndrome [RCV002457976] Chr15:90803609 [GRCh38]
Chr15:91346839 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2310C>T (p.Ile770=) single nucleotide variant Bloom syndrome [RCV000628702]|Hereditary cancer-predisposing syndrome [RCV002448924] Chr15:90769135 [GRCh38]
Chr15:91312365 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) single nucleotide variant Bloom syndrome [RCV000628704] Chr15:90811287 [GRCh38]
Chr15:91354517 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1818C>T (p.Asp606=) single nucleotide variant Bloom syndrome [RCV000628705]|Hereditary cancer-predisposing syndrome [RCV002413788] Chr15:90761191 [GRCh38]
Chr15:91304421 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.342T>C (p.Thr114=) single nucleotide variant Bloom syndrome [RCV000628709]|Hereditary cancer-predisposing syndrome [RCV002334044] Chr15:90749610 [GRCh38]
Chr15:91292840 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1296T>C (p.Pro432=) single nucleotide variant Bloom syndrome [RCV000628717]|Hereditary cancer-predisposing syndrome [RCV004601225] Chr15:90760669 [GRCh38]
Chr15:91303899 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.9:g.(?_91290617)_(91358515_?)dup duplication Bloom syndrome [RCV000628722] Chr15:90747387..90815285 [GRCh38]
Chr15:91290617..91358515 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1209G>C (p.Gln403His) single nucleotide variant Bloom syndrome [RCV001313055]|Hereditary cancer-predisposing syndrome [RCV000562284]|not provided [RCV004773018] Chr15:90760268 [GRCh38]
Chr15:91303498 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.545C>T (p.Thr182Ile) single nucleotide variant Bloom syndrome [RCV001065509]|Hereditary cancer-predisposing syndrome [RCV000563326] Chr15:90749813 [GRCh38]
Chr15:91293043 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp) single nucleotide variant Bloom syndrome [RCV000546813]|not provided [RCV004760553] Chr15:90782838 [GRCh38]
Chr15:91326068 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His) single nucleotide variant Bloom syndrome [RCV000532261]|Hereditary cancer-predisposing syndrome [RCV000571399]|not provided [RCV005000111] Chr15:90815265 [GRCh38]
Chr15:91358495 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met) single nucleotide variant Bloom syndrome [RCV001316694]|Hereditary cancer-predisposing syndrome [RCV000562962] Chr15:90794248 [GRCh38]
Chr15:91337478 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) single nucleotide variant Bloom syndrome [RCV000545717]|Hereditary cancer-predisposing syndrome [RCV001024460] Chr15:90749840 [GRCh38]
Chr15:91293070 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.433C>G (p.Pro145Ala) single nucleotide variant Bloom syndrome [RCV000547133] Chr15:90749701 [GRCh38]
Chr15:91292931 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2784T>C (p.Asp928=) single nucleotide variant Bloom syndrome [RCV000989393]|Hereditary cancer-predisposing syndrome [RCV002438270] Chr15:90785042 [GRCh38]
Chr15:91328272 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile) single nucleotide variant Bloom syndrome [RCV000526229]|Hereditary cancer-predisposing syndrome [RCV002376977] Chr15:90811306 [GRCh38]
Chr15:91354536 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3672A>G (p.Glu1224=) single nucleotide variant Bloom syndrome [RCV005091420]|Hereditary cancer-predisposing syndrome [RCV000565199] Chr15:90804280 [GRCh38]
Chr15:91347510 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del) microsatellite Bloom syndrome [RCV000545696]|Hereditary cancer-predisposing syndrome [RCV001010650]|not provided [RCV003478097] Chr15:90760639..90760641 [GRCh38]
Chr15:91303869..91303871 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.134A>G (p.Asn45Ser) single nucleotide variant Bloom syndrome [RCV000529582]|Hereditary breast ovarian cancer syndrome [RCV001030677]|Hereditary cancer-predisposing syndrome [RCV001011003] Chr15:90749402 [GRCh38]
Chr15:91292632 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.157T>A (p.Ser53Thr) single nucleotide variant Bloom syndrome [RCV000525338] Chr15:90749425 [GRCh38]
Chr15:91292655 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp) single nucleotide variant Bloom syndrome [RCV000527258]|Hereditary cancer-predisposing syndrome [RCV004948388] Chr15:90803548 [GRCh38]
Chr15:91346778 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1236G>A (p.Thr412=) single nucleotide variant Bloom syndrome [RCV000552675]|Hereditary cancer-predisposing syndrome [RCV002367758] Chr15:90760609 [GRCh38]
Chr15:91303839 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.437A>T (p.Asp146Val) single nucleotide variant Bloom syndrome [RCV000791833]|Hereditary cancer-predisposing syndrome [RCV000564374] Chr15:90749705 [GRCh38]
Chr15:91292935 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) single nucleotide variant Bloom syndrome [RCV001829606]|Hereditary cancer-predisposing syndrome [RCV000567776] Chr15:90803698 [GRCh38]
Chr15:91346928 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.372C>T (p.Asn124=) single nucleotide variant Bloom syndrome [RCV000530626]|Hereditary cancer-predisposing syndrome [RCV002350164] Chr15:90749640 [GRCh38]
Chr15:91292870 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg) single nucleotide variant Bloom syndrome [RCV000544576] Chr15:90790790 [GRCh38]
Chr15:91334020 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2838A>T (p.Thr946=) single nucleotide variant Bloom syndrome [RCV000531189]|Hereditary cancer-predisposing syndrome [RCV004948387] Chr15:90790663 [GRCh38]
Chr15:91333893 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp) single nucleotide variant Bloom syndrome [RCV000554002]|Hereditary cancer-predisposing syndrome [RCV002358430]|not provided [RCV002476077] Chr15:90760269 [GRCh38]
Chr15:91303499 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) single nucleotide variant Bloom syndrome [RCV000550933]|Hereditary cancer-predisposing syndrome [RCV002323903] Chr15:90794260 [GRCh38]
Chr15:91337490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.186T>G (p.Asn62Lys) single nucleotide variant Bloom syndrome [RCV000546483]|Hereditary cancer-predisposing syndrome [RCV001013411]|not provided [RCV004817761] Chr15:90749454 [GRCh38]
Chr15:91292684 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.114A>G (p.Lys38=) single nucleotide variant BLM-related disorder [RCV003915474]|Bloom syndrome [RCV000526844]|Hereditary cancer-predisposing syndrome [RCV001017479] Chr15:90749382 [GRCh38]
Chr15:91292612 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
NM_000057.3(BLM):c.2207_2212delATCTGAins7 indel Bloom syndrome [RCV000173626] Chr15:90766923..90766928 [GRCh38]
Chr15:91310153..91310158 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) single nucleotide variant Bloom syndrome [RCV000667667] Chr15:90763061 [GRCh38]
Chr15:91306291 [GRCh37]
Chr15:89107295 [NCBI36]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) single nucleotide variant Bloom syndrome [RCV000538407]|Hereditary cancer-predisposing syndrome [RCV002326784]|not provided [RCV003477460] Chr15:90815147 [GRCh38]
Chr15:91358377 [GRCh37]
Chr15:89159381 [NCBI36]
Chr15:15q26.1		 likely benign|not provided
NM_000057.4(BLM):c.2555+7T>C single nucleotide variant Bloom syndrome [RCV000297248]|not provided [RCV001711178]|not specified [RCV000078057] Chr15:90769593 [GRCh38]
Chr15:91312823 [GRCh37]
Chr15:15q26.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) single nucleotide variant Bloom syndrome [RCV000144575]|Hereditary cancer-predisposing syndrome [RCV000568944]|Hereditary disease [RCV001824121]|not provided [RCV000586013]|not specified [RCV000078058] Chr15:90782869 [GRCh38]
Chr15:91326099 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) single nucleotide variant Bloom syndrome [RCV000366766]|Hereditary cancer-predisposing syndrome [RCV000566151]|not provided [RCV004715654]|not specified [RCV000078059] Chr15:90794249 [GRCh38]
Chr15:91337479 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) single nucleotide variant BLM-related disorder [RCV003891528]|Bloom syndrome [RCV000363720]|Hereditary cancer-predisposing syndrome [RCV000571353]|not provided [RCV001705721]|not specified [RCV000078060] Chr15:90803693 [GRCh38]
Chr15:91346923 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) single nucleotide variant Bloom syndrome [RCV000320678]|Hereditary cancer-predisposing syndrome [RCV000561218]|not provided [RCV001705722]|not specified [RCV000078061] Chr15:90811275 [GRCh38]
Chr15:91354505 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000057.4(BLM):c.893C>T (p.Thr298Met) single nucleotide variant Bloom syndrome [RCV000381515]|Hereditary cancer-predisposing syndrome [RCV000568229]|not provided [RCV000589956]|not specified [RCV000078062] Chr15:90751880 [GRCh38]
Chr15:91295110 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1928G>A (p.Arg643His) single nucleotide variant BLM-related disorder [RCV003891606]|Bloom syndrome [RCV000211548]|Hereditary cancer-predisposing syndrome [RCV000565415]|not provided [RCV000857778]|not specified [RCV000116502] Chr15:90763011 [GRCh38]
Chr15:91306241 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2452_2454delinsGGG (p.Arg818Gly) indel Hereditary cancer-predisposing syndrome [RCV001015588]|not provided [RCV000115293] Chr15:90769483..90769485 [GRCh38]
Chr15:91312713..91312715 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) single nucleotide variant Bloom syndrome [RCV000281046]|Hereditary cancer-predisposing syndrome [RCV000566425]|not provided [RCV001530630]|not specified [RCV000116501] Chr15:90811291 [GRCh38]
Chr15:91354521 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) single nucleotide variant Bloom syndrome [RCV000477302]|Hereditary cancer-predisposing syndrome [RCV000574582]|not provided [RCV000115278] Chr15:90760156 [GRCh38]
Chr15:91303386 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.11T>C (p.Val4Ala) single nucleotide variant BLM-related disorder [RCV003935097]|Bloom syndrome [RCV000210906]|Hereditary cancer [RCV003492469]|Hereditary cancer-predisposing syndrome [RCV000562058]|not provided [RCV000656774]|not specified [RCV000115279] Chr15:90747403 [GRCh38]
Chr15:91290633 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr) single nucleotide variant Bloom syndrome [RCV001057722]|Hereditary cancer-predisposing syndrome [RCV001010605]|not provided [RCV000115280] Chr15:90760634 [GRCh38]
Chr15:91303864 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1315A>G (p.Met439Val) single nucleotide variant Bloom syndrome [RCV000234473]|Hereditary cancer-predisposing syndrome [RCV000574443]|not provided [RCV000115281]|not specified [RCV001818261] Chr15:90760688 [GRCh38]
Chr15:91303918 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1348A>G (p.Met450Val) single nucleotide variant Bloom syndrome [RCV001222033]|Hereditary cancer-predisposing syndrome [RCV002381418]|not provided [RCV000115282] Chr15:90760721 [GRCh38]
Chr15:91303951 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) single nucleotide variant Bloom syndrome [RCV000465434]|Hereditary cancer-predisposing syndrome [RCV000575229]|not provided [RCV000724734]|not specified [RCV001818262] Chr15:90760974 [GRCh38]
Chr15:91304204 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) single nucleotide variant BLM-related disorder [RCV003952547]|Bloom syndrome [RCV000144577]|Colorectal cancer [RCV005364993]|Hereditary cancer-predisposing syndrome [RCV000574676]|not provided [RCV000115284] Chr15:90761015 [GRCh38]
Chr15:91304245 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.191A>T (p.Asp64Val) single nucleotide variant Bloom syndrome [RCV000460513]|Hereditary cancer-predisposing syndrome [RCV000574815]|not provided [RCV000656775]|not specified [RCV001800401] Chr15:90749459 [GRCh38]
Chr15:91292689 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2074+5G>A single nucleotide variant Bloom syndrome [RCV000812341]|Hereditary cancer-predisposing syndrome [RCV002415592]|not provided [RCV000115287] Chr15:90763162 [GRCh38]
Chr15:91306392 [GRCh37]
Chr15:15q26.1		 pathogenic|uncertain significance
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) single nucleotide variant BLM-related disorder [RCV003952548]|Bloom syndrome [RCV000172805]|Hereditary cancer-predisposing syndrome [RCV000563887]|not provided [RCV000857591]|not specified [RCV000115288] Chr15:90765340 [GRCh38]
Chr15:91308570 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) single nucleotide variant Bloom syndrome [RCV000549316]|Hereditary cancer-predisposing syndrome [RCV004019609]|not provided [RCV000115289] Chr15:90765376 [GRCh38]
Chr15:91308606 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) single nucleotide variant Bloom syndrome [RCV001080005]|Hereditary cancer-predisposing syndrome [RCV000562292]|not provided [RCV000656782]|not specified [RCV000115291] Chr15:90769158 [GRCh38]
Chr15:91312388 [GRCh37]
Chr15:15q26.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) single nucleotide variant BLM-related disorder [RCV003407494]|Bloom syndrome [RCV001082972]|Hereditary cancer-predisposing syndrome [RCV000564057]|not provided [RCV000115292]|not specified [RCV001818263] Chr15:90769187 [GRCh38]
Chr15:91312417 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2475G>A (p.Pro825=) single nucleotide variant Bloom syndrome [RCV000542801]|Hereditary cancer-predisposing syndrome [RCV000573420]|not provided [RCV000115294] Chr15:90769506 [GRCh38]
Chr15:91312736 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) single nucleotide variant Bloom syndrome [RCV000226920]|Hereditary cancer-predisposing syndrome [RCV000567093]|not provided [RCV000656776]|not specified [RCV000120239] Chr15:90749522 [GRCh38]
Chr15:91292752 [GRCh37]
Chr15:15q26.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) single nucleotide variant Bloom syndrome [RCV000550035]|Hereditary cancer-predisposing syndrome [RCV000567138]|not provided [RCV000766552]|not specified [RCV000120227] Chr15:90782904 [GRCh38]
Chr15:91326134 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) single nucleotide variant Bloom syndrome [RCV001062616]|Hereditary cancer-predisposing syndrome [RCV001016319]|not provided [RCV000115297] Chr15:90784941 [GRCh38]
Chr15:91328171 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) single nucleotide variant Bloom syndrome [RCV000169191]|Hereditary cancer-predisposing syndrome [RCV001016333]|not provided [RCV000115298] Chr15:90784953 [GRCh38]
Chr15:91328183 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) single nucleotide variant BLM-related disorder [RCV003925113]|Bloom syndrome [RCV000461478]|Hereditary cancer-predisposing syndrome [RCV000566952]|not provided [RCV000115299]|not specified [RCV001818264] Chr15:90784978 [GRCh38]
Chr15:91328208 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) single nucleotide variant Bloom syndrome [RCV000462198]|Hereditary cancer-predisposing syndrome [RCV000561733]|not provided [RCV000656777]|not specified [RCV000203080] Chr15:90749542 [GRCh38]
Chr15:91292772 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) single nucleotide variant Bloom syndrome [RCV000473191]|Colorectal cancer [RCV005359074]|Hereditary cancer-predisposing syndrome [RCV000570913]|not provided [RCV000115302]|not specified [RCV001824609] Chr15:90794191 [GRCh38]
Chr15:91337421 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) single nucleotide variant Bloom syndrome [RCV001081917]|Hereditary cancer-predisposing syndrome [RCV002321589]|not provided [RCV000115303] Chr15:90794264 [GRCh38]
Chr15:91337494 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) single nucleotide variant Bloom syndrome [RCV001275698]|Hereditary cancer-predisposing syndrome [RCV002255286]|not provided [RCV000115304] Chr15:90794347 [GRCh38]
Chr15:91337577 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3210+2del deletion Bloom syndrome [RCV000628687]|Hereditary cancer-predisposing syndrome [RCV001019262]|not provided [RCV004998232] Chr15:90794359 [GRCh38]
Chr15:91337589 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) single nucleotide variant BLM-related disorder [RCV004745185]|Bloom syndrome [RCV000542140]|Hereditary cancer-predisposing syndrome [RCV000567551]|not provided [RCV000115306] Chr15:90803559 [GRCh38]
Chr15:91346789 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) single nucleotide variant Bloom syndrome [RCV000475273]|Hereditary cancer-predisposing syndrome [RCV000566047]|not provided [RCV000115307]|not specified [RCV001818265] Chr15:90803589 [GRCh38]
Chr15:91346819 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) single nucleotide variant BLM-related disorder [RCV003975001]|Bloom syndrome [RCV000989397]|Hereditary cancer-predisposing syndrome [RCV000563035]|not provided [RCV004704851]|not specified [RCV000115308] Chr15:90804200 [GRCh38]
Chr15:91347430 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) single nucleotide variant Bloom syndrome [RCV000168286]|Hereditary cancer-predisposing syndrome [RCV000564629]|not provided [RCV000726338]|not specified [RCV000115309] Chr15:90804233 [GRCh38]
Chr15:91347463 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn) single nucleotide variant Bloom syndrome [RCV000700971]|Hereditary cancer-predisposing syndrome [RCV002255287]|not provided [RCV000115310] Chr15:90804259 [GRCh38]
Chr15:91347489 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) single nucleotide variant Bloom syndrome [RCV000473466]|Hereditary cancer-predisposing syndrome [RCV001020887]|not provided [RCV000115311]|not specified [RCV004800289] Chr15:90749636 [GRCh38]
Chr15:91292866 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) single nucleotide variant Bloom syndrome [RCV000699350]|Hereditary cancer-predisposing syndrome [RCV001021051]|not provided [RCV000115312] Chr15:90804359 [GRCh38]
Chr15:91347589 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) single nucleotide variant Bloom syndrome [RCV000628664]|Hereditary cancer-predisposing syndrome [RCV000561783]|not provided [RCV000115313] Chr15:90811222 [GRCh38]
Chr15:91354452 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) single nucleotide variant Bloom syndrome [RCV000559638]|Hereditary cancer-predisposing syndrome [RCV001021470]|not provided [RCV000115314] Chr15:90811264 [GRCh38]
Chr15:91354494 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) single nucleotide variant Bloom syndrome [RCV000536540]|Hereditary cancer-predisposing syndrome [RCV001021594]|See cases [RCV002251984]|not provided [RCV000115315] Chr15:90811321 [GRCh38]
Chr15:91354551 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) single nucleotide variant Bloom syndrome [RCV000465705]|Hereditary cancer-predisposing syndrome [RCV000566329]|not provided [RCV000115316] Chr15:90749671 [GRCh38]
Chr15:91292901 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn) single nucleotide variant Bloom syndrome [RCV001831903]|not provided [RCV000115317] Chr15:90811398 [GRCh38]
Chr15:91354628 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) single nucleotide variant Bloom syndrome [RCV000554495]|Hereditary cancer-predisposing syndrome [RCV000567738]|not provided [RCV000115318]|not specified [RCV002298474] Chr15:90815137 [GRCh38]
Chr15:91358367 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) single nucleotide variant Bloom syndrome [RCV000553041]|Hereditary cancer-predisposing syndrome [RCV001021918]|not provided [RCV000115319] Chr15:90815151 [GRCh38]
Chr15:91358381 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) single nucleotide variant Bloom syndrome [RCV000464245]|Hereditary cancer-predisposing syndrome [RCV000567877]|not provided [RCV000115320]|not specified [RCV002281933] Chr15:90749810 [GRCh38]
Chr15:91293040 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.604A>G (p.Asn202Asp) single nucleotide variant Bloom syndrome [RCV005089576]|Hereditary cancer-predisposing syndrome [RCV002354290]|not provided [RCV000115321] Chr15:90749872 [GRCh38]
Chr15:91293102 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) single nucleotide variant Bloom syndrome [RCV000326657]|Hereditary cancer-predisposing syndrome [RCV001025851]|not provided [RCV000115322] Chr15:90749964 [GRCh38]
Chr15:91293194 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) single nucleotide variant Bloom syndrome [RCV000472713]|Hereditary cancer-predisposing syndrome [RCV000570925]|Microcephaly [RCV001252890]|not provided [RCV000656778]|not specified [RCV000120240] Chr15:90749983 [GRCh38]
Chr15:91293213 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) microsatellite Bloom syndrome [RCV000456184]|Hereditary cancer-predisposing syndrome [RCV000115324]|not provided [RCV000656779] Chr15:90751798..90751800 [GRCh38]
Chr15:91295028..91295030 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.842A>C (p.His281Pro) single nucleotide variant BLM-related disorder [RCV003390798]|Bloom syndrome [RCV000465275]|Hereditary cancer-predisposing syndrome [RCV000561026]|not provided [RCV000656780]|not specified [RCV000120242] Chr15:90751829 [GRCh38]
Chr15:91295059 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) single nucleotide variant Bloom syndrome [RCV000226028]|Hereditary cancer [RCV003492470]|Hereditary cancer-predisposing syndrome [RCV000575545]|not provided [RCV000656781]|not specified [RCV000120244] Chr15:90754819 [GRCh38]
Chr15:91298049 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000057.4(BLM):c.174T>C (p.Pro58=) single nucleotide variant BLM-related disorder [RCV003945115]|Bloom syndrome [RCV000559026]|Hereditary cancer-predisposing syndrome [RCV000563187]|not provided [RCV005411343]|not specified [RCV000123837] Chr15:90749442 [GRCh38]
Chr15:91292672 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.465T>C (p.Asp155=) single nucleotide variant Bloom syndrome [RCV000456798]|Hereditary cancer-predisposing syndrome [RCV000565527]|not provided [RCV001698965]|not specified [RCV000123840] Chr15:90749733 [GRCh38]
Chr15:91292963 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.615G>A (p.Lys205=) single nucleotide variant Bloom syndrome [RCV000234095]|Hereditary cancer-predisposing syndrome [RCV000573446]|not provided [RCV004704968]|not specified [RCV000123841] Chr15:90749883 [GRCh38]
Chr15:91293113 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1122T>C (p.His374=) single nucleotide variant Bloom syndrome [RCV000233713]|Hereditary cancer-predisposing syndrome [RCV000569939]|not provided [RCV004714476]|not specified [RCV000123842] Chr15:90760181 [GRCh38]
Chr15:91303411 [GRCh37]
Chr15:15q26.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1722A>G (p.Leu574=) single nucleotide variant BLM-related disorder [RCV003915237]|Bloom syndrome [RCV000228415]|Hereditary cancer-predisposing syndrome [RCV000571746]|not provided [RCV001725982]|not specified [RCV000179705] Chr15:90761095 [GRCh38]
Chr15:91304325 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.2075-14T>C single nucleotide variant Bloom syndrome [RCV001120214]|not provided [RCV004714477]|not specified [RCV000123844] Chr15:90765282 [GRCh38]
Chr15:91308512 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2160C>T (p.Ile720=) single nucleotide variant Bloom syndrome [RCV000226091]|Hereditary cancer-predisposing syndrome [RCV000568428]|not provided [RCV003237733]|not specified [RCV000123845] Chr15:90765381 [GRCh38]
Chr15:91308611 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2268A>G (p.Lys756=) single nucleotide variant Bloom syndrome [RCV000226761]|Hereditary cancer-predisposing syndrome [RCV000565012]|not provided [RCV001705903]|not specified [RCV000123846] Chr15:90766984 [GRCh38]
Chr15:91310214 [GRCh37]
Chr15:15q26.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.-5+16G>C single nucleotide variant Bloom syndrome [RCV001831915]|not specified [RCV000123847] Chr15:90717456 [GRCh38]
Chr15:91260687 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) single nucleotide variant Bloom syndrome [RCV000230670]|Hereditary cancer-predisposing syndrome [RCV000572905]|not provided [RCV001800416]|not specified [RCV000123849] Chr15:90794275 [GRCh38]
Chr15:91337505 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.3359-13A>G single nucleotide variant Bloom syndrome [RCV000272706]|Hereditary cancer-predisposing syndrome [RCV002258806]|not specified [RCV000123850] Chr15:90803508 [GRCh38]
Chr15:91346738 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3798T>G (p.Val1266=) single nucleotide variant Bloom syndrome [RCV001080664]|Hereditary cancer-predisposing syndrome [RCV000573700]|not provided [RCV000725494]|not specified [RCV000123851] Chr15:90809183 [GRCh38]
Chr15:91352413 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) single nucleotide variant Bloom syndrome [RCV000229324]|Hereditary cancer-predisposing syndrome [RCV000573786]|not provided [RCV004704969]|not specified [RCV000123852] Chr15:90811290 [GRCh38]
Chr15:91354520 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.4076+4T>G single nucleotide variant BLM-related disorder [RCV003891654]|Bloom syndrome [RCV000232892]|Hereditary cancer-predisposing syndrome [RCV000569071]|not provided [RCV000588309]|not specified [RCV000193294] Chr15:90811410 [GRCh38]
Chr15:91354640 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.4077-10C>T single nucleotide variant Bloom syndrome [RCV000227864]|Hereditary cancer-predisposing syndrome [RCV002257453]|not specified [RCV000123854] Chr15:90815092 [GRCh38]
Chr15:91358322 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) single nucleotide variant BLM-related disorder [RCV003905143]|Bloom syndrome [RCV000469034]|Hereditary cancer [RCV003492521]|Hereditary cancer-predisposing syndrome [RCV000566842]|not provided [RCV000731068]|not specified [RCV000120225] Chr15:90766979 [GRCh38]
Chr15:91310209 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) single nucleotide variant Bloom syndrome [RCV000628631]|Hereditary breast ovarian cancer syndrome [RCV001030455]|Hereditary cancer-predisposing syndrome [RCV000568596]|not provided [RCV004998236]|not specified [RCV000120226] Chr15:90769196 [GRCh38]
Chr15:91312426 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) single nucleotide variant Bloom syndrome [RCV000686394]|Hereditary cancer-predisposing syndrome [RCV000573639]|not specified [RCV000120228] Chr15:90790683 [GRCh38]
Chr15:91333913 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu) single nucleotide variant Bloom syndrome [RCV001069669]|Hereditary cancer-predisposing syndrome [RCV002321599]|not specified [RCV000120229] Chr15:90798257 [GRCh38]
Chr15:91341487 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) single nucleotide variant Bloom syndrome [RCV000989398]|Hereditary cancer-predisposing syndrome [RCV000561636]|not specified [RCV000120230] Chr15:90804221 [GRCh38]
Chr15:91347451 [GRCh37]
Chr15:15q26.1		 benign|likely benign|not provided
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) single nucleotide variant Bloom syndrome [RCV001036176]|Hereditary cancer-predisposing syndrome [RCV000569262]|not provided [RCV000727387]|not specified [RCV000120231] Chr15:90804245 [GRCh38]
Chr15:91347475 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance|not provided
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) single nucleotide variant Bloom syndrome [RCV000531703]|Hereditary cancer-predisposing syndrome [RCV000568835]|not provided [RCV003237720]|not specified [RCV000120232] Chr15:90747490 [GRCh38]
Chr15:91290720 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro) single nucleotide variant Bloom syndrome [RCV002514625]|Hereditary cancer-predisposing syndrome [RCV004948187]|not specified [RCV000120233] Chr15:90811399 [GRCh38]
Chr15:91354629 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) single nucleotide variant Bloom syndrome [RCV000806844]|Hereditary cancer-predisposing syndrome [RCV004019670]|not specified [RCV000120234] Chr15:90815127 [GRCh38]
Chr15:91358357 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance|not provided
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) single nucleotide variant Bloom syndrome [RCV001079982]|Hereditary cancer-predisposing syndrome [RCV000575143]|not provided [RCV000437672]|not specified [RCV000120236] Chr15:90749678 [GRCh38]
Chr15:91292908 [GRCh37]
Chr15:15q26.1		 benign|likely benign|not provided
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) single nucleotide variant Bloom syndrome [RCV000234547]|Hereditary cancer-predisposing syndrome [RCV000570211]|not provided [RCV000224918]|not specified [RCV000120237] Chr15:90749687 [GRCh38]
Chr15:91292917 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000057.4(BLM):c.376C>G (p.Pro126Ala) single nucleotide variant Bloom syndrome [RCV001060998]|Hereditary cancer-predisposing syndrome [RCV003352773]|not specified [RCV000120238] Chr15:90749644 [GRCh38]
Chr15:91292874 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) single nucleotide variant BLM-related disorder [RCV003915190]|Bloom syndrome [RCV000330317]|Hereditary breast ovarian cancer syndrome [RCV001030679]|Hereditary cancer-predisposing syndrome [RCV000562376]|Microcephaly [RCV001252853]|not provided [RCV001800407]|not specified [RCV000120241] Chr15:90749446 [GRCh38]
Chr15:91292676 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) single nucleotide variant Bloom syndrome [RCV000540157]|Hereditary cancer-predisposing syndrome [RCV000569169]|not provided [RCV004998237]|not specified [RCV000120243] Chr15:90751834 [GRCh38]
Chr15:91295064 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance|not provided
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) single nucleotide variant Bloom syndrome [RCV000689681]|Hereditary cancer-predisposing syndrome [RCV001012917]|not specified [RCV000120246] Chr15:90761114 [GRCh38]
Chr15:91304344 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance|not provided
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) single nucleotide variant Bloom syndrome [RCV000628657]|Hereditary cancer-predisposing syndrome [RCV001013499]|not specified [RCV000120247] Chr15:90761250 [GRCh38]
Chr15:91304480 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.1712T>C (p.Met571Thr) single nucleotide variant Bloom syndrome [RCV000554792]|not specified [RCV000120248] Chr15:90761085 [GRCh38]
Chr15:91304315 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) single nucleotide variant Bloom syndrome [RCV000628673]|Hereditary cancer-predisposing syndrome [RCV002408625]|not provided [RCV005229923]|not specified [RCV000120249] Chr15:90762996 [GRCh38]
Chr15:91306226 [GRCh37]
Chr15:15q26.1		 uncertain significance|not provided
NM_000057.3(BLM):c.385_387delAAG (p.Lys130del) deletion AllHighlyPenetrant [RCV000120235]|not specified [RCV000120235] Chr15:90749653..90749655 [GRCh38]
Chr15:91292883..91292885 [GRCh37]
Chr15:15q26.1		 not provided
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) single nucleotide variant Bloom syndrome [RCV000673383]|Hereditary cancer-predisposing syndrome [RCV001014270]|not provided [RCV000171242]|not specified [RCV002298500] Chr15:90749473 [GRCh38]
Chr15:91292703 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
Single allele duplication Bloom syndrome [RCV000174214] Chr15:91312668..91312669 [GRCh37] pathogenic
NM_000057.4(BLM):c.2680del (p.Tyr894fs) deletion Colorectal cancer [RCV001293818] Chr15:90784936 [GRCh38]
Chr15:91328166 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs) insertion Bloom syndrome [RCV000190641] Chr15:90790839..90790840 [GRCh38]
Chr15:91334069..91334070 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn) single nucleotide variant Bloom syndrome [RCV001312252]|Hereditary cancer-predisposing syndrome [RCV002327690]|not provided [RCV002469372] Chr15:90815149 [GRCh38]
Chr15:91358379 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4234C>A (p.Pro1412Thr) single nucleotide variant Bloom syndrome [RCV001348630]|Hereditary cancer-predisposing syndrome [RCV004951582] Chr15:90815259 [GRCh38]
Chr15:91358489 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3103G>C (p.Glu1035Gln) single nucleotide variant Bloom syndrome [RCV001348184]|Hereditary cancer-predisposing syndrome [RCV003169705] Chr15:90794250 [GRCh38]
Chr15:91337480 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) single nucleotide variant Bloom syndrome [RCV000144576]|Hereditary cancer-predisposing syndrome [RCV001020241]|not provided [RCV003441755] Chr15:90803577 [GRCh38]
Chr15:91346807 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.559A>G (p.Lys187Glu) single nucleotide variant Bloom syndrome [RCV001312325]|Hereditary cancer-predisposing syndrome [RCV002350567] Chr15:90749827 [GRCh38]
Chr15:91293057 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3606A>C (p.Lys1202Asn) single nucleotide variant Bloom syndrome [RCV001303260] Chr15:90804214 [GRCh38]
Chr15:91347444 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) single nucleotide variant Bloom syndrome [RCV001852140]|Hereditary cancer-predisposing syndrome [RCV001019271]|not provided [RCV000175117] Chr15:90798190 [GRCh38]
Chr15:91341420 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1 copy number loss See cases [RCV000135962] Chr15:90216530..90767025 [GRCh38]
Chr15:90759762..91310255 [GRCh37]
Chr15:88560766..89111259 [NCBI36]
Chr15:15q26.1		 uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) single nucleotide variant Bloom syndrome [RCV000157586]|Hereditary cancer-predisposing syndrome [RCV000561536]|not provided [RCV003221828] Chr15:90811279 [GRCh38]
Chr15:91354509 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) single nucleotide variant Bloom syndrome [RCV000544365]|Hereditary cancer-predisposing syndrome [RCV002381525] Chr15:90760731 [GRCh38]
Chr15:91303961 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1385del (p.Ser462fs) deletion Hereditary cancer-predisposing syndrome [RCV000159830] Chr15:90760758 [GRCh38]
Chr15:91303988 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.645C>T (p.Ser215=) single nucleotide variant BLM-related disorder [RCV004745221]|Bloom syndrome [RCV000548769]|Hereditary cancer-predisposing syndrome [RCV000572632]|not specified [RCV000159831] Chr15:90749913 [GRCh38]
Chr15:91293143 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) insertion Bloom syndrome [RCV000169119]|Hereditary cancer-predisposing syndrome [RCV001014933] Chr15:90766966..90766967 [GRCh38]
Chr15:91310196..91310197 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.991_995del (p.Lys331fs) deletion Bloom syndrome [RCV000169224]|Hereditary cancer-predisposing syndrome [RCV001019885]|not provided [RCV004772855] Chr15:90754839..90754843 [GRCh38]
Chr15:91298069..91298073 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) single nucleotide variant Bloom syndrome [RCV000169338]|Hereditary cancer-predisposing syndrome [RCV001014085]|not provided [RCV001310295] Chr15:90763098 [GRCh38]
Chr15:91306328 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) deletion Bloom syndrome [RCV000169422]|Hereditary cancer-predisposing syndrome [RCV002354414] Chr15:90749845..90749846 [GRCh38]
Chr15:91293075..91293076 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3028del (p.Asp1010fs) deletion Bloom syndrome [RCV000169440]|Hereditary cancer-predisposing syndrome [RCV000574982]|not provided [RCV001818407] Chr15:90794175 [GRCh38]
Chr15:91337405 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.4077-59_4077-57dup duplication Bloom syndrome [RCV001554232]|not provided [RCV001618339]|not specified [RCV000194335] Chr15:90815041..90815042 [GRCh38]
Chr15:91358271..91358272 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.3359-121_3359-120insA insertion not provided [RCV001696184]|not specified [RCV000195212] Chr15:90803400..90803401 [GRCh38]
Chr15:91346630..91346631 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.1221-6C>G single nucleotide variant Bloom syndrome [RCV000542467] Chr15:90760588 [GRCh38]
Chr15:91303818 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) single nucleotide variant Bloom syndrome [RCV000543071]|Hereditary cancer-predisposing syndrome [RCV001018398] Chr15:90794209 [GRCh38]
Chr15:91337439 [GRCh37]
Chr15:15q26.1		 benign|likely benign|uncertain significance
NM_000057.4(BLM):c.2580_2581del (p.His860fs) deletion Bloom syndrome [RCV000204244]|Hereditary cancer-predisposing syndrome [RCV004948214] Chr15:90782845..90782846 [GRCh38]
Chr15:91326075..91326076 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3558+1G>T single nucleotide variant Bloom syndrome [RCV000205550]|Hereditary cancer-predisposing syndrome [RCV000572028]|not provided [RCV001723775] Chr15:90803721 [GRCh38]
Chr15:91346951 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys) single nucleotide variant Bloom syndrome [RCV000542996]|Hereditary cancer-predisposing syndrome [RCV002395270] Chr15:90760809 [GRCh38]
Chr15:91304039 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2308-2A>G single nucleotide variant Bloom syndrome [RCV002525121]|Hereditary cancer-predisposing syndrome [RCV001015149]|not provided [RCV000518951] Chr15:90769131 [GRCh38]
Chr15:91312361 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.699C>T (p.Ser233=) single nucleotide variant Bloom syndrome [RCV002060512]|Hereditary cancer-predisposing syndrome [RCV000561682] Chr15:90749967 [GRCh38]
Chr15:91293197 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln) single nucleotide variant Bloom syndrome [RCV000532308]|Hereditary cancer-predisposing syndrome [RCV000563361] Chr15:90760270 [GRCh38]
Chr15:91303500 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) single nucleotide variant Bloom syndrome [RCV000528102]|Hereditary cancer-predisposing syndrome [RCV000573986] Chr15:90815138 [GRCh38]
Chr15:91358368 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1251T>C (p.Asn417=) single nucleotide variant Bloom syndrome [RCV002528973]|Hereditary cancer-predisposing syndrome [RCV000563959] Chr15:90760624 [GRCh38]
Chr15:91303854 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser) single nucleotide variant Bloom syndrome [RCV000545255] Chr15:90804341 [GRCh38]
Chr15:91347571 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) single nucleotide variant Bloom syndrome [RCV000628644]|Hereditary cancer-predisposing syndrome [RCV000562947]|not provided [RCV003478277] Chr15:90784932 [GRCh38]
Chr15:91328162 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2824-21A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209007] Chr15:90790628 [GRCh38]
Chr15:91333858 [GRCh37]
Chr15:15q26.1		 pathogenic|likely benign
NM_000057.4(BLM):c.2075-12G>T single nucleotide variant Bloom syndrome [RCV001120215]|Hereditary cancer-predisposing syndrome [RCV000209148]|not provided [RCV001682918]|not specified [RCV000500746] Chr15:90765284 [GRCh38]
Chr15:91308514 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.2824-473C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209159] Chr15:90790176 [GRCh38]
Chr15:91333406 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959+669A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209443] Chr15:90752615 [GRCh38]
Chr15:91295845 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4077-778A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209485] Chr15:90814324 [GRCh38]
Chr15:91357554 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-66T>C single nucleotide variant Bloom syndrome [RCV001833173]|Hereditary cancer-predisposing syndrome [RCV000209738]|not provided [RCV001589102] Chr15:90794101 [GRCh38]
Chr15:91337331 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.2824-209C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209780] Chr15:90790440 [GRCh38]
Chr15:91333670 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-221G>A single nucleotide variant Bloom syndrome [RCV001828048]|Hereditary cancer-predisposing syndrome [RCV000209810]|not provided [RCV001566448] Chr15:90790428 [GRCh38]
Chr15:91333658 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.727A>G (p.Ile243Val) single nucleotide variant Bloom syndrome [RCV000228074]|Hereditary cancer-predisposing syndrome [RCV001026222] Chr15:90749995 [GRCh38]
Chr15:91293225 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn) single nucleotide variant Bloom syndrome [RCV000228367]|Hereditary cancer-predisposing syndrome [RCV001019350]|not provided [RCV003237782] Chr15:90798217 [GRCh38]
Chr15:91341447 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) single nucleotide variant Bloom syndrome [RCV001232070]|Hereditary cancer-predisposing syndrome [RCV000570830]|not provided [RCV000224500] Chr15:90809212 [GRCh38]
Chr15:91352442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) single nucleotide variant Bloom syndrome [RCV000230545]|Hereditary cancer-predisposing syndrome [RCV000570192]|not provided [RCV003477781] Chr15:90815211 [GRCh38]
Chr15:91358441 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.1086C>T (p.Asp362=) single nucleotide variant Bloom syndrome [RCV001085620]|Hereditary cancer-predisposing syndrome [RCV000573154]|not provided [RCV000352401]|not specified [RCV001818552] Chr15:90754937 [GRCh38]
Chr15:91298167 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser) single nucleotide variant Bloom syndrome [RCV000229039]|Hereditary cancer-predisposing syndrome [RCV001019902]|not provided [RCV001770187]|not specified [RCV003488481] Chr15:90798289 [GRCh38]
Chr15:91341519 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.671A>G (p.Gln224Arg) single nucleotide variant Bloom syndrome [RCV000229061]|Hereditary cancer-predisposing syndrome [RCV002372242] Chr15:90749939 [GRCh38]
Chr15:91293169 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.894G>A (p.Thr298=) single nucleotide variant Bloom syndrome [RCV000232188]|Hereditary cancer-predisposing syndrome [RCV001018525]|not provided [RCV003477782] Chr15:90751881 [GRCh38]
Chr15:91295111 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) single nucleotide variant Bloom syndrome [RCV000232488]|Hereditary cancer-predisposing syndrome [RCV002321849] Chr15:90798221 [GRCh38]
Chr15:91341451 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2604G>A (p.Pro868=) single nucleotide variant Bloom syndrome [RCV000230888]|Hereditary cancer-predisposing syndrome [RCV002257528] Chr15:90782870 [GRCh38]
Chr15:91326100 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+9A>C single nucleotide variant Bloom syndrome [RCV001081399]|not provided [RCV000730297] Chr15:90804368 [GRCh38]
Chr15:91347598 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.451A>G (p.Ile151Val) single nucleotide variant Bloom syndrome [RCV000231372]|Hereditary cancer-predisposing syndrome [RCV001022623]|not provided [RCV005235145]|not specified [RCV001818556] Chr15:90749719 [GRCh38]
Chr15:91292949 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3272A>G (p.His1091Arg) single nucleotide variant Bloom syndrome [RCV000226325]|Hereditary cancer [RCV005230131]|Hereditary cancer-predisposing syndrome [RCV002444878]|not specified [RCV000499533] Chr15:90798251 [GRCh38]
Chr15:91341481 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) single nucleotide variant Bloom syndrome [RCV000233102]|Hereditary cancer-predisposing syndrome [RCV002347853] Chr15:90804337 [GRCh38]
Chr15:91347567 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) single nucleotide variant Bloom syndrome [RCV000226684]|Hereditary cancer-predisposing syndrome [RCV001011785]|not provided [RCV003237781] Chr15:90760869 [GRCh38]
Chr15:91304099 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2871C>T (p.Asp957=) single nucleotide variant Bloom syndrome [RCV000230436]|Hereditary cancer-predisposing syndrome [RCV001016741] Chr15:90790696 [GRCh38]
Chr15:91333926 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg) single nucleotide variant Bloom syndrome [RCV000232781]|Hereditary cancer-predisposing syndrome [RCV001016694]|not provided [RCV004812310]|not specified [RCV001818554] Chr15:90785080 [GRCh38]
Chr15:91328310 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) single nucleotide variant Bloom syndrome [RCV001081770]|Hereditary cancer-predisposing syndrome [RCV000574031]|not provided [RCV000732455]|not specified [RCV001194358] Chr15:90809234 [GRCh38]
Chr15:91352464 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.700G>A (p.Asp234Asn) single nucleotide variant Bloom syndrome [RCV000231511]|Hereditary cancer-predisposing syndrome [RCV000573223] Chr15:90749968 [GRCh38]
Chr15:91293198 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) single nucleotide variant Bloom syndrome [RCV000232143]|not specified [RCV002247670] Chr15:90760842 [GRCh38]
Chr15:91304072 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.716A>G (p.Asp239Gly) single nucleotide variant Bloom syndrome [RCV000234230]|Hereditary cancer-predisposing syndrome [RCV002372243] Chr15:90749984 [GRCh38]
Chr15:91293214 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+4A>G single nucleotide variant BLM-related disorder [RCV003897511]|Bloom syndrome [RCV000234518]|Hereditary cancer-predisposing syndrome [RCV001019264]|not provided [RCV002478830] Chr15:90794361 [GRCh38]
Chr15:91337591 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) single nucleotide variant BLM-related disorder [RCV003937880]|Bloom syndrome [RCV000227610]|Hereditary cancer-predisposing syndrome [RCV000562616]|not provided [RCV000732825]|not specified [RCV001818555] Chr15:90811209 [GRCh38]
Chr15:91354439 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2838A>G (p.Thr946=) single nucleotide variant BLM-related disorder [RCV003897510]|Bloom syndrome [RCV001085829]|Hereditary cancer-predisposing syndrome [RCV000572201]|not provided [RCV000271833] Chr15:90790663 [GRCh38]
Chr15:91333893 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1467G>A (p.Arg489=) single nucleotide variant Bloom syndrome [RCV000228175]|Hereditary cancer-predisposing syndrome [RCV000562540]|not provided [RCV000732826]|not specified [RCV001818553] Chr15:90760840 [GRCh38]
Chr15:91304070 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg) single nucleotide variant Bloom syndrome [RCV000234425]|Hereditary cancer-predisposing syndrome [RCV002433943]|not provided [RCV003477780] Chr15:90790775 [GRCh38]
Chr15:91334005 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1194C>T (p.Asn398=) single nucleotide variant BLM-related disorder [RCV003955295]|Bloom syndrome [RCV000228630]|Hereditary cancer-predisposing syndrome [RCV000564584]|not provided [RCV002478829] Chr15:90760253 [GRCh38]
Chr15:91303483 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) single nucleotide variant BLM-related disorder [RCV003907844]|Bloom syndrome [RCV000228961]|Hereditary cancer-predisposing syndrome [RCV000563912]|not provided [RCV001538791]|not specified [RCV001804962] Chr15:90794188 [GRCh38]
Chr15:91337418 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.231A>G (p.Leu77=) single nucleotide variant Bloom syndrome [RCV000229238]|Hereditary cancer-predisposing syndrome [RCV002444877] Chr15:90749499 [GRCh38]
Chr15:91292729 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) single nucleotide variant BLM-related disorder [RCV003407767]|Bloom syndrome [RCV000227410]|Hereditary cancer-predisposing syndrome [RCV000572998]|not provided [RCV000857675]|not specified [RCV003226261] Chr15:90747435 [GRCh38]
Chr15:91290665 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2106T>A (p.Pro702=) single nucleotide variant Bloom syndrome [RCV000546056]|Hereditary cancer-predisposing syndrome [RCV001014453]|not provided [RCV003392359] Chr15:90765327 [GRCh38]
Chr15:91308557 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.99-9A>T single nucleotide variant Bloom syndrome [RCV000546577]|Hereditary cancer-predisposing syndrome [RCV002256336] Chr15:90749358 [GRCh38]
Chr15:91292588 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2746C>G (p.Leu916Val) single nucleotide variant Bloom syndrome [RCV000547337]|Hereditary cancer-predisposing syndrome [RCV002438269]|not provided [RCV005000110] Chr15:90785004 [GRCh38]
Chr15:91328234 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu) single nucleotide variant Bloom syndrome [RCV000525035]|Hereditary cancer-predisposing syndrome [RCV001021669] Chr15:90811349 [GRCh38]
Chr15:91354579 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) single nucleotide variant Bloom syndrome [RCV001082616]|Hereditary breast ovarian cancer syndrome [RCV001030454]|Hereditary cancer-predisposing syndrome [RCV000563745]|not provided [RCV000526205] Chr15:90767009 [GRCh38]
Chr15:91310239 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) single nucleotide variant Bloom syndrome [RCV000537347]|Hereditary cancer-predisposing syndrome [RCV000566609]|not provided [RCV002291652] Chr15:90760806 [GRCh38]
Chr15:91304036 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1010C>T (p.Thr337Ile) single nucleotide variant Bloom syndrome [RCV001367579]|Hereditary cancer-predisposing syndrome [RCV002322345] Chr15:90754861 [GRCh38]
Chr15:91298091 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) single nucleotide variant BLM-related disorder [RCV003392360]|Bloom syndrome [RCV000541320]|Hereditary cancer-predisposing syndrome [RCV000570422]|not provided [RCV000588275] Chr15:90751795 [GRCh38]
Chr15:91295025 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3261del (p.Phe1087fs) deletion BLM-related disorder [RCV003403246]|Bloom syndrome [RCV000525613]|Hereditary cancer-predisposing syndrome [RCV001019499]|not provided [RCV003148774] Chr15:90798238 [GRCh38]
Chr15:91341468 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.702T>C (p.Asp234=) single nucleotide variant Bloom syndrome [RCV000525680]|Hereditary cancer-predisposing syndrome [RCV002376978] Chr15:90749970 [GRCh38]
Chr15:91293200 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) single nucleotide variant Bloom syndrome [RCV000548110]|Hereditary cancer-predisposing syndrome [RCV000708669]|not provided [RCV002281102] Chr15:90811300 [GRCh38]
Chr15:91354530 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
NM_000057.4(BLM):c.1129del (p.Glu377fs) deletion Bloom syndrome [RCV000528231]|Hereditary cancer-predisposing syndrome [RCV002323901] Chr15:90760187 [GRCh38]
Chr15:91303417 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2308-50G>A single nucleotide variant Bloom syndrome [RCV001533491]|not provided [RCV001711516]|not specified [RCV000246447] Chr15:90769083 [GRCh38]
Chr15:91312313 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2115T>C (p.Val705=) single nucleotide variant Bloom syndrome [RCV000560749]|Hereditary cancer-predisposing syndrome [RCV000568127] Chr15:90765336 [GRCh38]
Chr15:91308566 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3210+44del deletion not provided [RCV001640461]|not specified [RCV000254176] Chr15:90794394 [GRCh38]
Chr15:91337624 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.3358+32T>G single nucleotide variant Bloom syndrome [RCV001533505]|not provided [RCV001689768]|not specified [RCV000244549] Chr15:90798369 [GRCh38]
Chr15:91341599 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) single nucleotide variant BLM-related disorder [RCV003962635]|Bloom syndrome [RCV000628698]|Hereditary cancer-predisposing syndrome [RCV000565495]|not provided [RCV003478276]|not specified [RCV001821684] Chr15:90798204 [GRCh38]
Chr15:91341434 [GRCh37]
Chr15:15q26.1		 likely benign
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_000057.4(BLM):c.759G>A (p.Gln253=) single nucleotide variant Bloom syndrome [RCV000548318]|Hereditary cancer-predisposing syndrome [RCV000571307]|not provided [RCV005243170]|not specified [RCV000250234] Chr15:90750027 [GRCh38]
Chr15:91293257 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.200T>A (p.Val67Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564482] Chr15:90749468 [GRCh38]
Chr15:91292698 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) single nucleotide variant Bloom syndrome [RCV000549947]|Hereditary cancer-predisposing syndrome [RCV001017173] Chr15:90754938 [GRCh38]
Chr15:91298168 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2161G>A (p.Val721Ile) single nucleotide variant Bloom syndrome [RCV000527567]|Hereditary cancer-predisposing syndrome [RCV001014494]|not provided [RCV005241372] Chr15:90765382 [GRCh38]
Chr15:91308612 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) single nucleotide variant BLM-related disorder [RCV003409758]|Bloom syndrome [RCV000545144]|Hereditary cancer-predisposing syndrome [RCV000576060]|not provided [RCV001311063] Chr15:90763016 [GRCh38]
Chr15:91306246 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg) single nucleotide variant Bloom syndrome [RCV000550356]|Hereditary cancer-predisposing syndrome [RCV002448597] Chr15:90798265 [GRCh38]
Chr15:91341495 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile) single nucleotide variant Bloom syndrome [RCV000628636]|Hereditary cancer-predisposing syndrome [RCV000567485]|not provided [RCV004773019] Chr15:90794226 [GRCh38]
Chr15:91337456 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+10C>T single nucleotide variant Bloom syndrome [RCV000269179]|not specified [RCV000780963] Chr15:90804369 [GRCh38]
Chr15:91347599 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.*77T>A single nucleotide variant Bloom syndrome [RCV000296439] Chr15:90815356 [GRCh38]
Chr15:91358586 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) single nucleotide variant Bloom syndrome [RCV000312131]|Hereditary cancer-predisposing syndrome [RCV001018448] Chr15:90794218 [GRCh38]
Chr15:91337448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) single nucleotide variant Bloom syndrome [RCV000324132]|Hereditary cancer-predisposing syndrome [RCV002356424] Chr15:90809212 [GRCh38]
Chr15:91352442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) single nucleotide variant Bloom syndrome [RCV000327819]|Hereditary cancer-predisposing syndrome [RCV001020252]|not provided [RCV003441840] Chr15:90803580 [GRCh38]
Chr15:91346810 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+6T>G single nucleotide variant Bloom syndrome [RCV000275505]|Hereditary cancer-predisposing syndrome [RCV000708674] Chr15:90747496 [GRCh38]
Chr15:91290726 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.*108C>T single nucleotide variant Bloom syndrome [RCV000351400] Chr15:90815387 [GRCh38]
Chr15:91358617 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.-70G>T single nucleotide variant Bloom syndrome [RCV000355115] Chr15:90717375 [GRCh38]
Chr15:91260606 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) single nucleotide variant BLM-related disorder [RCV003910047]|Bloom syndrome [RCV001079416]|Hereditary cancer-predisposing syndrome [RCV000566804]|not provided [RCV000322377]|not specified [RCV001820844] Chr15:90790744 [GRCh38]
Chr15:91333974 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) single nucleotide variant Bloom syndrome [RCV000265527]|Hereditary cancer-predisposing syndrome [RCV002374537] Chr15:90811260 [GRCh38]
Chr15:91354490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1992C>T (p.Gly664=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004021197]|not provided [RCV000358104] Chr15:90763075 [GRCh38]
Chr15:91306305 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) single nucleotide variant Bloom syndrome [RCV000552084]|Hereditary cancer-predisposing syndrome [RCV002411163]|not provided [RCV000360928] Chr15:90749459 [GRCh38]
Chr15:91292689 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2739C>T (p.Leu913=) single nucleotide variant Bloom syndrome [RCV000401930]|Hereditary cancer-predisposing syndrome [RCV000572257]|not provided [RCV001531211]|not specified [RCV001194359] Chr15:90784997 [GRCh38]
Chr15:91328227 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) single nucleotide variant Bloom syndrome [RCV000543633]|Hereditary cancer-predisposing syndrome [RCV000565904]|Ovarian cancer [RCV003153549]|not provided [RCV000264848] Chr15:90769546 [GRCh38]
Chr15:91312776 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.-65C>T single nucleotide variant Bloom syndrome [RCV000260136] Chr15:90717380 [GRCh38]
Chr15:91260611 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg) single nucleotide variant Bloom syndrome [RCV000554096]|Hereditary cancer-predisposing syndrome [RCV002329258] Chr15:90815248 [GRCh38]
Chr15:91358478 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) indel Bloom syndrome [RCV000548596]|Hereditary cancer-predisposing syndrome [RCV002323902] Chr15:90760191..90760193 [GRCh38]
Chr15:91303421..91303423 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3683C>G (p.Ser1228Cys) single nucleotide variant Bloom syndrome [RCV001279098] Chr15:90804291 [GRCh38]
Chr15:91347521 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3359-204A>C single nucleotide variant not provided [RCV001566539] Chr15:90803317 [GRCh38]
Chr15:91346547 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2688C>T (p.Leu896=) single nucleotide variant Bloom syndrome [RCV000548692] Chr15:90784946 [GRCh38]
Chr15:91328176 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) single nucleotide variant Bloom syndrome [RCV000628690]|Hereditary cancer-predisposing syndrome [RCV000565340]|not provided [RCV001800791] Chr15:90760254 [GRCh38]
Chr15:91303484 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1691A>T (p.Asp564Val) single nucleotide variant Bloom syndrome [RCV001559216]|Hereditary cancer-predisposing syndrome [RCV004946717] Chr15:90761064 [GRCh38]
Chr15:91304294 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) single nucleotide variant Bloom syndrome [RCV000554341]|Hereditary cancer-predisposing syndrome [RCV001015589]|not provided [RCV001755776] Chr15:90769483 [GRCh38]
Chr15:91312713 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.205G>T (p.Glu69Ter) single nucleotide variant not provided [RCV000579258] Chr15:90749473 [GRCh38]
Chr15:91292703 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2721G>A (p.Thr907=) single nucleotide variant Bloom syndrome [RCV000628696]|Hereditary cancer-predisposing syndrome [RCV000568359] Chr15:90784979 [GRCh38]
Chr15:91328209 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.646G>A (p.Glu216Lys) single nucleotide variant Bloom syndrome [RCV000527173]|Hereditary cancer-predisposing syndrome [RCV001025303]|not provided [RCV005000112] Chr15:90749914 [GRCh38]
Chr15:91293144 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.-29C>T single nucleotide variant Bloom syndrome [RCV000333975] Chr15:90717416 [GRCh38]
Chr15:91260647 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) duplication Bloom syndrome [RCV000336886] Chr15:90766921..90766922 [GRCh38]
Chr15:91310151..91310152 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser) single nucleotide variant Bloom syndrome [RCV000552185]|Hereditary breast ovarian cancer syndrome [RCV001030459]|Hereditary cancer-predisposing syndrome [RCV002456033] Chr15:90803647 [GRCh38]
Chr15:91346877 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) single nucleotide variant Bloom syndrome [RCV000372001] Chr15:90815276 [GRCh38]
Chr15:91358506 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) single nucleotide variant Bloom syndrome [RCV000553710]|Hereditary cancer-predisposing syndrome [RCV001020076]|not provided [RCV003441909] Chr15:90798337 [GRCh38]
Chr15:91341567 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr) single nucleotide variant Bloom syndrome [RCV000531472]|Hereditary cancer-predisposing syndrome [RCV001021923] Chr15:90815155 [GRCh38]
Chr15:91358385 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.816G>A (p.Lys272=) single nucleotide variant Bloom syndrome [RCV000556167]|Hereditary cancer-predisposing syndrome [RCV000567633]|not provided [RCV004704042] Chr15:90751803 [GRCh38]
Chr15:91295033 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr) single nucleotide variant Bloom syndrome [RCV000526747]|Hereditary cancer-predisposing syndrome [RCV002395273]|not provided [RCV005000109] Chr15:90760868 [GRCh38]
Chr15:91304098 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) single nucleotide variant Bloom syndrome [RCV000868219]|Hereditary cancer-predisposing syndrome [RCV000568038] Chr15:90803663 [GRCh38]
Chr15:91346893 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) single nucleotide variant BLM-related disorder [RCV003945376]|Bloom syndrome [RCV000687305]|Hereditary cancer-predisposing syndrome [RCV002438532]|not provided [RCV000592778] Chr15:90769583 [GRCh38]
Chr15:91312813 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2307+5G>A single nucleotide variant Bloom syndrome [RCV000806360]|Hereditary cancer-predisposing syndrome [RCV002257972]|not provided [RCV003478508] Chr15:90767028 [GRCh38]
Chr15:91310258 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3229G>A (p.Val1077Met) single nucleotide variant Bloom syndrome [RCV000551724]|Hereditary cancer-predisposing syndrome [RCV002255428]|Ovarian cancer [RCV003153671]|not provided [RCV003478102] Chr15:90798208 [GRCh38]
Chr15:91341438 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu) single nucleotide variant Bloom syndrome [RCV000628630]|Hereditary cancer-predisposing syndrome [RCV002325191]|not provided [RCV005000394] Chr15:90798333 [GRCh38]
Chr15:91341563 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2663-5G>A single nucleotide variant Bloom syndrome [RCV000628662] Chr15:90784916 [GRCh38]
Chr15:91328146 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg) single nucleotide variant Bloom syndrome [RCV000628674] Chr15:90765343 [GRCh38]
Chr15:91308573 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3401G>A (p.Gly1134Glu) single nucleotide variant Bloom syndrome [RCV000628684] Chr15:90803563 [GRCh38]
Chr15:91346793 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+10G>T single nucleotide variant BLM-related disorder [RCV003953104]|Bloom syndrome [RCV000628703] Chr15:90794367 [GRCh38]
Chr15:91337597 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2454C>G (p.Arg818=) single nucleotide variant Bloom syndrome [RCV000628710]|Hereditary cancer-predisposing syndrome [RCV002431848] Chr15:90769485 [GRCh38]
Chr15:91312715 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.10:g.(?_90754805)_(90754944_?)del deletion Bloom syndrome [RCV000628721] Chr15:90754805..90754944 [GRCh38]
Chr15:91298035..91298174 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser) single nucleotide variant Bloom syndrome [RCV000806390]|Hereditary breast ovarian cancer syndrome [RCV001030458]|Hereditary cancer-predisposing syndrome [RCV001020265] Chr15:90803584 [GRCh38]
Chr15:91346814 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.229C>G (p.Leu77Val) single nucleotide variant Bloom syndrome [RCV000628647] Chr15:90749497 [GRCh38]
Chr15:91292727 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile) single nucleotide variant Bloom syndrome [RCV001059428]|Hereditary cancer-predisposing syndrome [RCV000569151]|not provided [RCV004592774] Chr15:90804336 [GRCh38]
Chr15:91347566 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.722G>A (p.Gly241Asp) single nucleotide variant Bloom syndrome [RCV000628619]|Hereditary cancer-predisposing syndrome [RCV001026183]|not provided [RCV002275094] Chr15:90749990 [GRCh38]
Chr15:91293220 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys) single nucleotide variant Bloom syndrome [RCV000628624] Chr15:90762977 [GRCh38]
Chr15:91306207 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3511G>A (p.Val1171Met) single nucleotide variant Bloom syndrome [RCV000628629]|Hereditary cancer-predisposing syndrome [RCV004025324] Chr15:90803673 [GRCh38]
Chr15:91346903 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1388T>G (p.Val463Gly) single nucleotide variant Bloom syndrome [RCV000628638] Chr15:90760761 [GRCh38]
Chr15:91303991 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.499A>G (p.Lys167Glu) single nucleotide variant Bloom syndrome [RCV000628641]|Hereditary cancer-predisposing syndrome [RCV002334043] Chr15:90749767 [GRCh38]
Chr15:91292997 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+1G>T single nucleotide variant Bloom syndrome [RCV000628651]|Hereditary cancer-predisposing syndrome [RCV001021814] Chr15:90811407 [GRCh38]
Chr15:91354637 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.656A>C (p.Asp219Ala) single nucleotide variant Bloom syndrome [RCV000628655] Chr15:90749924 [GRCh38]
Chr15:91293154 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu) single nucleotide variant Bloom syndrome [RCV000628667]|Hereditary cancer-predisposing syndrome [RCV001011740]|not provided [RCV005255609]|not specified [RCV003317305] Chr15:90760847 [GRCh38]
Chr15:91304077 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.685G>C (p.Glu229Gln) single nucleotide variant Bloom syndrome [RCV000628677]|Hereditary cancer-predisposing syndrome [RCV004948482] Chr15:90749953 [GRCh38]
Chr15:91293183 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1432G>C (p.Gly478Arg) single nucleotide variant Bloom syndrome [RCV000628678] Chr15:90760805 [GRCh38]
Chr15:91304035 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) single nucleotide variant Bloom syndrome [RCV000628686]|Hereditary cancer-predisposing syndrome [RCV001020246] Chr15:90803578 [GRCh38]
Chr15:91346808 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1305T>C (p.Leu435=) single nucleotide variant Bloom syndrome [RCV001027932]|Hereditary cancer-predisposing syndrome [RCV001010879] Chr15:90760678 [GRCh38]
Chr15:91303908 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1308T>C (p.Asp436=) single nucleotide variant Bloom syndrome [RCV000628713]|Hereditary cancer-predisposing syndrome [RCV002385966] Chr15:90760681 [GRCh38]
Chr15:91303911 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2025G>A (p.Ala675=) single nucleotide variant BLM-related disorder [RCV003983150]|Bloom syndrome [RCV000628719]|Hereditary cancer-predisposing syndrome [RCV001014104] Chr15:90763108 [GRCh38]
Chr15:91306338 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.10:g.(?_90790643)_(90790850_?)del deletion Bloom syndrome [RCV000628720] Chr15:90790643..90790850 [GRCh38]
Chr15:91333873..91334080 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) single nucleotide variant Bloom syndrome [RCV000414956]|Hereditary cancer-predisposing syndrome [RCV001021941] Chr15:90815165 [GRCh38]
Chr15:91358395 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1544del (p.Asn515fs) deletion BLM-related disorder [RCV003912592]|Bloom syndrome [RCV000415444]|Hereditary cancer-predisposing syndrome [RCV002402108]|not provided [RCV003321587] Chr15:90760909 [GRCh38]
Chr15:91304139 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.10:g.(?_90747383)_(90751956_?)del deletion Bloom syndrome [RCV000815911] Chr15:90747383..90751956 [GRCh38]
Chr15:91290613..91295186 [GRCh37]
Chr15:15q26.1		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu) single nucleotide variant Bloom syndrome [RCV000797814]|Hereditary cancer-predisposing syndrome [RCV000570286] Chr15:90803659 [GRCh38]
Chr15:91346889 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) single nucleotide variant Bloom syndrome [RCV000534742]|Hereditary cancer-predisposing syndrome [RCV001021321]|not provided [RCV002280123]|not specified [RCV001821469] Chr15:90809254 [GRCh38]
Chr15:91352484 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro) single nucleotide variant Bloom syndrome [RCV000538795]|Hereditary cancer-predisposing syndrome [RCV001020043] Chr15:90798320 [GRCh38]
Chr15:91341550 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1964T>C (p.Met655Thr) single nucleotide variant Bloom syndrome [RCV000628613]|Hereditary cancer-predisposing syndrome [RCV000573356]|not provided [RCV004783815] Chr15:90763047 [GRCh38]
Chr15:91306277 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn) single nucleotide variant Bloom syndrome [RCV000540055]|Hereditary cancer-predisposing syndrome [RCV005298509] Chr15:90760983 [GRCh38]
Chr15:91304213 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup) microsatellite Bloom syndrome [RCV000698922]|Hereditary cancer-predisposing syndrome [RCV000572305] Chr15:90761055..90761056 [GRCh38]
Chr15:91304285..91304286 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg) single nucleotide variant Bloom syndrome [RCV000535187]|Hereditary cancer-predisposing syndrome [RCV001009800]|not specified [RCV001821467] Chr15:90754915 [GRCh38]
Chr15:91298145 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.506T>G (p.Phe169Cys) single nucleotide variant Bloom syndrome [RCV000535364]|Hereditary cancer-predisposing syndrome [RCV002341245] Chr15:90749774 [GRCh38]
Chr15:91293004 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile) single nucleotide variant Bloom syndrome [RCV000557879]|Hereditary cancer-predisposing syndrome [RCV002448596]|not provided [RCV003478101] Chr15:90794209 [GRCh38]
Chr15:91337439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2229C>T (p.Asp743=) single nucleotide variant Bloom syndrome [RCV000537731]|Hereditary cancer-predisposing syndrome [RCV002431503] Chr15:90766945 [GRCh38]
Chr15:91310175 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) single nucleotide variant Bloom syndrome [RCV000812053]|Hereditary cancer-predisposing syndrome [RCV000572396]|not provided [RCV003329312] Chr15:90749532 [GRCh38]
Chr15:91292762 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) single nucleotide variant Bloom syndrome [RCV000541692]|Colorectal cancer [RCV005357545]|Hereditary breast ovarian cancer syndrome [RCV001030456]|Hereditary cancer-predisposing syndrome [RCV001016471] Chr15:90785002 [GRCh38]
Chr15:91328232 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs) deletion Bloom syndrome [RCV000409206] Chr15:90784975..90784981 [GRCh38]
Chr15:91328205..91328211 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3022del (p.Glu1008fs) deletion Bloom syndrome [RCV000409280] Chr15:90794168 [GRCh38]
Chr15:91337398 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) deletion Bloom syndrome [RCV000409376]|Hereditary cancer-predisposing syndrome [RCV001011718] Chr15:90760851..90760852 [GRCh38]
Chr15:91304081..91304082 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) indel Bloom syndrome [RCV000409598] Chr15:90761095..90761098 [GRCh38]
Chr15:91304325..91304328 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3875-2A>G single nucleotide variant Bloom syndrome [RCV000409613]|Hereditary cancer-predisposing syndrome [RCV001021334]|not provided [RCV001090940] Chr15:90811203 [GRCh38]
Chr15:91354433 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.98+1G>A single nucleotide variant Bloom syndrome [RCV000409688]|Hereditary cancer-predisposing syndrome [RCV002374613]|not provided [RCV004800398] Chr15:90747491 [GRCh38]
Chr15:91290721 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) single nucleotide variant Bloom syndrome [RCV000409908] Chr15:90809240 [GRCh38]
Chr15:91352470 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) deletion Bloom syndrome [RCV000410100] Chr15:90761134..90761147 [GRCh38]
Chr15:91304364..91304377 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) duplication Bloom syndrome [RCV000410178]|Hereditary cancer-predisposing syndrome [RCV002450947] Chr15:90804274..90804275 [GRCh38]
Chr15:91347504..91347505 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.98+1G>T single nucleotide variant Bloom syndrome [RCV000410622]|Hereditary cancer-predisposing syndrome [RCV001019785]|not provided [RCV003477906] Chr15:90747491 [GRCh38]
Chr15:91290721 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) single nucleotide variant Bloom syndrome [RCV000410691] Chr15:90760657 [GRCh38]
Chr15:91303887 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) single nucleotide variant Bloom syndrome [RCV000410779] Chr15:90785079 [GRCh38]
Chr15:91328309 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) duplication Bloom syndrome [RCV000410940] Chr15:90754853..90754854 [GRCh38]
Chr15:91298083..91298084 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.298_299del (p.Gln100fs) microsatellite Bloom syndrome [RCV000411055]|Hereditary cancer-predisposing syndrome [RCV001017760]|not provided [RCV002509377] Chr15:90749563..90749564 [GRCh38]
Chr15:91292793..91292794 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) deletion Bloom syndrome [RCV000411218] Chr15:90798284..90798285 [GRCh38]
Chr15:91341514..91341515 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1795del (p.Arg599fs) deletion Bloom syndrome [RCV000411246] Chr15:90761166 [GRCh38]
Chr15:91304396 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) deletion Bloom syndrome [RCV000411275] Chr15:90761090..90761105 [GRCh38]
Chr15:91304320..91304335 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2824-2A>T single nucleotide variant Bloom syndrome [RCV000411706]|Hereditary cancer-predisposing syndrome [RCV002436232] Chr15:90790647 [GRCh38]
Chr15:91333877 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.443dup (p.Leu148fs) duplication Bloom syndrome [RCV000411717] Chr15:90749708..90749709 [GRCh38]
Chr15:91292938..91292939 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.662_665del (p.Thr221fs) deletion Bloom syndrome [RCV000411857] Chr15:90749927..90749930 [GRCh38]
Chr15:91293157..91293160 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2T>C (p.Met1Thr) single nucleotide variant Bloom syndrome [RCV000412038]|Hereditary cancer-predisposing syndrome [RCV003168589] Chr15:90747394 [GRCh38]
Chr15:91290624 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) microsatellite Bloom syndrome [RCV000412101]|Hereditary cancer-predisposing syndrome [RCV001017226] Chr15:90754932..90754933 [GRCh38]
Chr15:91298162..91298163 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) single nucleotide variant Bloom syndrome [RCV000412132] Chr15:90803562 [GRCh38]
Chr15:91346792 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) deletion Bloom syndrome [RCV000412153]|Hereditary cancer-predisposing syndrome [RCV001021637] Chr15:90811327..90811331 [GRCh38]
Chr15:91354557..91354561 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|uncertain significance
NM_000057.4(BLM):c.3638del (p.Glu1213fs) deletion Bloom syndrome [RCV000412256] Chr15:90804246 [GRCh38]
Chr15:91347476 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1740del (p.Thr581fs) deletion Bloom syndrome [RCV000412340] Chr15:90761112 [GRCh38]
Chr15:91304342 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.238A>G (p.Thr80Ala) single nucleotide variant Bloom syndrome [RCV000555676]|Hereditary cancer-predisposing syndrome [RCV002456030] Chr15:90749506 [GRCh38]
Chr15:91292736 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3237C>T (p.Asp1079=) single nucleotide variant Bloom syndrome [RCV001078554]|Hereditary cancer-predisposing syndrome [RCV001019348]|not provided [RCV000732828] Chr15:90798216 [GRCh38]
Chr15:91341446 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) single nucleotide variant Bloom syndrome [RCV000535832]|Hereditary cancer-predisposing syndrome [RCV002420335]|not provided [RCV003228941] Chr15:90763152 [GRCh38]
Chr15:91306382 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) single nucleotide variant Bloom syndrome [RCV000535993]|Hereditary cancer-predisposing syndrome [RCV002395272]|not provided [RCV005054213] Chr15:90760854 [GRCh38]
Chr15:91304084 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr) single nucleotide variant Bloom syndrome [RCV000686504]|Hereditary cancer-predisposing syndrome [RCV000574403] Chr15:90803611 [GRCh38]
Chr15:91346841 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys) single nucleotide variant Bloom syndrome [RCV000540918]|Hereditary cancer-predisposing syndrome [RCV002257781] Chr15:90769176 [GRCh38]
Chr15:91312406 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu) single nucleotide variant Bloom syndrome [RCV001299266]|Hereditary cancer-predisposing syndrome [RCV002325448]|not provided [RCV000731862] Chr15:90798232 [GRCh38]
Chr15:91341462 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val) single nucleotide variant Bloom syndrome [RCV001370031]|Hereditary cancer-predisposing syndrome [RCV002325449]|not provided [RCV000731863] Chr15:90798218 [GRCh38]
Chr15:91341448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp) single nucleotide variant Bloom syndrome [RCV000542711]|Hereditary cancer-predisposing syndrome [RCV001016605] Chr15:90785045 [GRCh38]
Chr15:91328275 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1500del (p.Phe500fs) deletion Bloom syndrome [RCV005091419]|Hereditary cancer-predisposing syndrome [RCV000574589] Chr15:90760871 [GRCh38]
Chr15:91304101 [GRCh37]
Chr15:15q26.1		 pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer) deletion Bloom syndrome [RCV000685063] Chr15:90815240..90815241 [GRCh38]
Chr15:91358470..91358471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.657T>G (p.Asp219Glu) single nucleotide variant Bloom syndrome [RCV000686276]|Hereditary cancer-predisposing syndrome [RCV002360716] Chr15:90749925 [GRCh38]
Chr15:91293155 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) single nucleotide variant Bloom syndrome [RCV000686503]|Hereditary cancer-predisposing syndrome [RCV002397368]|not provided [RCV001771934] Chr15:90760932 [GRCh38]
Chr15:91304162 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) single nucleotide variant Bloom syndrome [RCV000686664]|Hereditary cancer-predisposing syndrome [RCV001010964] Chr15:90760692 [GRCh38]
Chr15:91303922 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1156A>G (p.Ile386Val) single nucleotide variant Bloom syndrome [RCV000687587]|Hereditary cancer-predisposing syndrome [RCV001010017] Chr15:90760215 [GRCh38]
Chr15:91303445 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.992A>C (p.Lys331Thr) single nucleotide variant Bloom syndrome [RCV000690690]|Hereditary cancer-predisposing syndrome [RCV001019894] Chr15:90754843 [GRCh38]
Chr15:91298073 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr) single nucleotide variant Bloom syndrome [RCV000691177]|Hereditary cancer-predisposing syndrome [RCV001018386] Chr15:90751870 [GRCh38]
Chr15:91295100 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.586G>A (p.Ala196Thr) single nucleotide variant Bloom syndrome [RCV000693622]|Hereditary cancer-predisposing syndrome [RCV004948597] Chr15:90749854 [GRCh38]
Chr15:91293084 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.379A>G (p.Thr127Ala) single nucleotide variant Bloom syndrome [RCV000695100]|Hereditary cancer-predisposing syndrome [RCV002352155]|not provided [RCV004997174] Chr15:90749647 [GRCh38]
Chr15:91292877 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro) indel Bloom syndrome [RCV000695601]|Hereditary cancer-predisposing syndrome [RCV003163195] Chr15:90811274..90811275 [GRCh38]
Chr15:91354504..91354505 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_000057.4(BLM):c.1404T>G (p.Cys468Trp) single nucleotide variant Bloom syndrome [RCV001224036] Chr15:90760777 [GRCh38]
Chr15:91304007 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 pathogenic
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys) single nucleotide variant Bloom syndrome [RCV000530944]|Hereditary cancer-predisposing syndrome [RCV002367759] Chr15:90760610 [GRCh38]
Chr15:91303840 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) indel BLM-related disorder [RCV004745147]|Bloom syndrome [RCV000005787]|Hereditary cancer-predisposing syndrome [RCV000562115]|not provided [RCV000058933] Chr15:90766923..90766928 [GRCh38]
Chr15:91310153..91310158 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1		 pathogenic
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) single nucleotide variant BLM-related disorder [RCV003418157]|Bloom syndrome [RCV000459068]|Hereditary cancer-predisposing syndrome [RCV001013735]|not provided [RCV002508213] Chr15:90763010 [GRCh38]
Chr15:91306240 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) single nucleotide variant BLM-related disorder [RCV003932722]|Bloom syndrome [RCV000466537]|Hereditary cancer-predisposing syndrome [RCV000568760]|not specified [RCV005407131] Chr15:90798327 [GRCh38]
Chr15:91341557 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3936T>C (p.Ala1312=) single nucleotide variant Bloom syndrome [RCV001438052] Chr15:90811266 [GRCh38]
Chr15:91354496 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1618A>G (p.Ile540Val) single nucleotide variant Bloom syndrome [RCV000463091] Chr15:90760991 [GRCh38]
Chr15:91304221 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) single nucleotide variant Bloom syndrome [RCV000470527]|Hereditary cancer-predisposing syndrome [RCV004948310] Chr15:90762996 [GRCh38]
Chr15:91306226 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val) single nucleotide variant Bloom syndrome [RCV000458942]|Hereditary cancer-predisposing syndrome [RCV002446781] Chr15:90798266 [GRCh38]
Chr15:91341496 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.543C>T (p.Ser181=) single nucleotide variant Bloom syndrome [RCV000470763]|Hereditary cancer-predisposing syndrome [RCV000567050] Chr15:90749811 [GRCh38]
Chr15:91293041 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3346G>C (p.Asp1116His) single nucleotide variant Bloom syndrome [RCV000466894] Chr15:90798325 [GRCh38]
Chr15:91341555 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) single nucleotide variant Bloom syndrome [RCV001409046]|Hereditary cancer-predisposing syndrome [RCV003168880] Chr15:90809246 [GRCh38]
Chr15:91352476 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.807C>T (p.Ser269=) single nucleotide variant Bloom syndrome [RCV000470963]|Hereditary cancer-predisposing syndrome [RCV000564852]|not provided [RCV002475901] Chr15:90751794 [GRCh38]
Chr15:91295024 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala) single nucleotide variant Bloom syndrome [RCV000473259]|Hereditary cancer-predisposing syndrome [RCV002257686] Chr15:90811391 [GRCh38]
Chr15:91354621 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) single nucleotide variant Bloom syndrome [RCV000463716]|Hereditary cancer-predisposing syndrome [RCV000569839]|not provided [RCV002244930]|not specified [RCV001821233] Chr15:90763017 [GRCh38]
Chr15:91306247 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2881G>T (p.Val961Leu) single nucleotide variant Bloom syndrome [RCV000467402] Chr15:90790706 [GRCh38]
Chr15:91333936 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser) single nucleotide variant Bloom syndrome [RCV000467518]|Hereditary cancer-predisposing syndrome [RCV002365606] Chr15:90809250 [GRCh38]
Chr15:91352480 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg) single nucleotide variant Bloom syndrome [RCV000467591]|Hereditary cancer-predisposing syndrome [RCV001018190]|not specified [RCV001821228] Chr15:90794178 [GRCh38]
Chr15:91337408 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu) single nucleotide variant Bloom syndrome [RCV000456520]|Hereditary cancer-predisposing syndrome [RCV001021449] Chr15:90811253 [GRCh38]
Chr15:91354483 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) single nucleotide variant Bloom syndrome [RCV000460104]|Hereditary cancer [RCV004698834]|Hereditary cancer-predisposing syndrome [RCV001023203]|not provided [RCV001764373] Chr15:90749756 [GRCh38]
Chr15:91292986 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.805A>G (p.Ser269Gly) single nucleotide variant Bloom syndrome [RCV000460269]|Hereditary cancer-predisposing syndrome [RCV001027122]|not provided [RCV004999424] Chr15:90751792 [GRCh38]
Chr15:91295022 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.311C>T (p.Ser104Leu) single nucleotide variant Bloom syndrome [RCV000463860]|Hereditary cancer-predisposing syndrome [RCV002323684] Chr15:90749579 [GRCh38]
Chr15:91292809 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.44G>A (p.Arg15His) single nucleotide variant Bloom syndrome [RCV000463869]|Hereditary cancer-predisposing syndrome [RCV001022591]|not provided [RCV002464199]|not specified [RCV000779839] Chr15:90747436 [GRCh38]
Chr15:91290666 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2898C>G (p.Leu966=) single nucleotide variant Bloom syndrome [RCV000989394]|Hereditary cancer-predisposing syndrome [RCV000564251]|not provided [RCV003392289] Chr15:90790723 [GRCh38]
Chr15:91333953 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) microsatellite Bloom syndrome [RCV000467746]|Hereditary cancer-predisposing syndrome [RCV003298468] Chr15:90769165..90769166 [GRCh38]
Chr15:91312395..91312396 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys) single nucleotide variant Bloom syndrome [RCV000471360]|Hereditary cancer-predisposing syndrome [RCV001015470]|not provided [RCV003148741] Chr15:90769453 [GRCh38]
Chr15:91312683 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly) single nucleotide variant Bloom syndrome [RCV000475328]|Hereditary cancer-predisposing syndrome [RCV001019346] Chr15:90798215 [GRCh38]
Chr15:91341445 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr) single nucleotide variant Bloom syndrome [RCV000456674]|Hereditary cancer-predisposing syndrome [RCV004948309] Chr15:90790782 [GRCh38]
Chr15:91334012 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) single nucleotide variant Bloom syndrome [RCV000467993]|Hereditary cancer-predisposing syndrome [RCV002323685] Chr15:90794245 [GRCh38]
Chr15:91337475 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys) single nucleotide variant Bloom syndrome [RCV000471638]|not specified [RCV002248668] Chr15:90811322 [GRCh38]
Chr15:91354552 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) single nucleotide variant Bloom syndrome [RCV000475513]|Hereditary cancer-predisposing syndrome [RCV000708668]|not provided [RCV004696204] Chr15:90803578 [GRCh38]
Chr15:91346808 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3513G>A (p.Val1171=) single nucleotide variant Bloom syndrome [RCV001408606]|Hereditary cancer-predisposing syndrome [RCV001020492] Chr15:90803675 [GRCh38]
Chr15:91346905 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile) single nucleotide variant Bloom syndrome [RCV000456940]|Hereditary cancer-predisposing syndrome [RCV002323686] Chr15:90815113 [GRCh38]
Chr15:91358343 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) single nucleotide variant Bloom syndrome [RCV000457008]|Hereditary cancer-predisposing syndrome [RCV001020271] Chr15:90803588 [GRCh38]
Chr15:91346818 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.2691C>T (p.Ser897=) single nucleotide variant Bloom syndrome [RCV000460536]|Hereditary cancer-predisposing syndrome [RCV002256283] Chr15:90784949 [GRCh38]
Chr15:91328179 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys) single nucleotide variant Bloom syndrome [RCV000460689]|Hereditary cancer-predisposing syndrome [RCV001018434]|not provided [RCV003477941]|not specified [RCV001821232] Chr15:90751874 [GRCh38]
Chr15:91295104 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) single nucleotide variant Bloom syndrome [RCV000464369]|Hereditary cancer-predisposing syndrome [RCV000708670] Chr15:90815239 [GRCh38]
Chr15:91358469 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3042T>C (p.His1014=) single nucleotide variant Bloom syndrome [RCV001437616]|Hereditary cancer-predisposing syndrome [RCV001018286] Chr15:90794189 [GRCh38]
Chr15:91337419 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) single nucleotide variant Bloom syndrome [RCV000468134]|Hereditary cancer-predisposing syndrome [RCV000574215]|not provided [RCV003477944]|not specified [RCV001821235] Chr15:90760892 [GRCh38]
Chr15:91304122 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3558+3A>G single nucleotide variant Bloom syndrome [RCV000468303]|Hereditary cancer-predisposing syndrome [RCV004022562]|not specified [RCV004689742] Chr15:90803723 [GRCh38]
Chr15:91346953 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+3A>G single nucleotide variant Bloom syndrome [RCV000471883]|Hereditary cancer-predisposing syndrome [RCV002323683]|not provided [RCV004999425] Chr15:90811409 [GRCh38]
Chr15:91354639 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2598A>T (p.Val866=) single nucleotide variant BLM-related disorder [RCV003899948]|Bloom syndrome [RCV000457154]|Hereditary cancer-predisposing syndrome [RCV000561199] Chr15:90782864 [GRCh38]
Chr15:91326094 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn) single nucleotide variant Bloom syndrome [RCV000464575]|Hereditary cancer-predisposing syndrome [RCV002436392] Chr15:90760177 [GRCh38]
Chr15:91303407 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) single nucleotide variant BLM-related disorder [RCV003409612]|Bloom syndrome [RCV000468403]|Hereditary cancer-predisposing syndrome [RCV000561975] Chr15:90763019 [GRCh38]
Chr15:91306249 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.204C>A (p.Thr68=) single nucleotide variant Bloom syndrome [RCV000472138]|Hereditary cancer-predisposing syndrome [RCV002418356] Chr15:90749472 [GRCh38]
Chr15:91292702 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) single nucleotide variant Bloom syndrome [RCV000457396]|Hereditary cancer-predisposing syndrome [RCV001015486] Chr15:90749509 [GRCh38]
Chr15:91292739 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1881T>C (p.Thr627=) single nucleotide variant Bloom syndrome [RCV000457455]|Hereditary cancer-predisposing syndrome [RCV000560957] Chr15:90761254 [GRCh38]
Chr15:91304484 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) single nucleotide variant Bloom syndrome [RCV000472288]|Hereditary cancer-predisposing syndrome [RCV002451153] Chr15:90782861 [GRCh38]
Chr15:91326091 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1613C>T (p.Ala538Val) single nucleotide variant Bloom syndrome [RCV000472437]|Hereditary cancer-predisposing syndrome [RCV002402235] Chr15:90760986 [GRCh38]
Chr15:91304216 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2868G>A (p.Pro956=) single nucleotide variant Bloom syndrome [RCV000461319]|Hereditary cancer-predisposing syndrome [RCV000571635] Chr15:90790693 [GRCh38]
Chr15:91333923 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) single nucleotide variant Bloom syndrome [RCV000461321]|Hereditary cancer-predisposing syndrome [RCV001014899]|not provided [RCV003389806] Chr15:90766953 [GRCh38]
Chr15:91310183 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) single nucleotide variant Bloom syndrome [RCV000465204]|Hereditary cancer-predisposing syndrome [RCV002411430] Chr15:90749450 [GRCh38]
Chr15:91292680 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser) single nucleotide variant Bloom syndrome [RCV000457824] Chr15:90765364 [GRCh38]
Chr15:91308594 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) single nucleotide variant BLM-related disorder [RCV004745390]|Bloom syndrome [RCV000472724]|Hereditary cancer [RCV003492048]|Hereditary cancer-predisposing syndrome [RCV001024105] Chr15:90749811 [GRCh38]
Chr15:91293041 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg) single nucleotide variant Bloom syndrome [RCV000472912]|Hereditary cancer-predisposing syndrome [RCV001021769] Chr15:90811389 [GRCh38]
Chr15:91354619 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) single nucleotide variant BLM-related disorder [RCV003899947]|Bloom syndrome [RCV001080152]|Hereditary breast ovarian cancer syndrome [RCV001030683]|Hereditary cancer-predisposing syndrome [RCV000566370]|not provided [RCV000590533]|not specified [RCV003151068] Chr15:90754895 [GRCh38]
Chr15:91298125 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.780T>C (p.Thr260=) single nucleotide variant Bloom syndrome [RCV000465631]|Hereditary cancer-predisposing syndrome [RCV000569310]|not provided [RCV003478002]|not specified [RCV000779838] Chr15:90750048 [GRCh38]
Chr15:91293278 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) single nucleotide variant Bloom syndrome [RCV000469284]|Hereditary cancer-predisposing syndrome [RCV002436391] Chr15:90790700 [GRCh38]
Chr15:91333930 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.607A>G (p.Thr203Ala) single nucleotide variant Bloom syndrome [RCV000469358]|Hereditary cancer-predisposing syndrome [RCV002356649] Chr15:90749875 [GRCh38]
Chr15:91293105 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2193+1_2193+9del deletion Bloom syndrome [RCV000469408]|Hereditary cancer-predisposing syndrome [RCV002429478]|not provided [RCV003441865] Chr15:90765413..90765421 [GRCh38]
Chr15:91308643..91308651 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile) single nucleotide variant Bloom syndrome [RCV000472965]|Hereditary cancer-predisposing syndrome [RCV002402236] Chr15:90761013 [GRCh38]
Chr15:91304243 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3359-9T>C single nucleotide variant Bloom syndrome [RCV001417447] Chr15:90803512 [GRCh38]
Chr15:91346742 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.544A>G (p.Thr182Ala) single nucleotide variant Bloom syndrome [RCV000473044]|Hereditary cancer-predisposing syndrome [RCV002348275]|not specified [RCV001821230] Chr15:90749812 [GRCh38]
Chr15:91293042 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys) single nucleotide variant Bloom syndrome [RCV000462089]|Hereditary cancer-predisposing syndrome [RCV002393086] Chr15:90761025 [GRCh38]
Chr15:91304255 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2824-7A>G single nucleotide variant Bloom syndrome [RCV000462152] Chr15:90790642 [GRCh38]
Chr15:91333872 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) single nucleotide variant Bloom syndrome [RCV000465861]|Hereditary cancer-predisposing syndrome [RCV001018059]|not provided [RCV003477943] Chr15:90790838 [GRCh38]
Chr15:91334068 [GRCh37]
Chr15:15q26.1		 benign|likely benign|uncertain significance
NM_000057.4(BLM):c.2241A>G (p.Thr747=) single nucleotide variant Bloom syndrome [RCV000473333]|Hereditary cancer-predisposing syndrome [RCV001014903] Chr15:90766957 [GRCh38]
Chr15:91310187 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) single nucleotide variant Bloom syndrome [RCV000473335]|Hereditary cancer-predisposing syndrome [RCV000570671]|not provided [RCV003392288] Chr15:90804217 [GRCh38]
Chr15:91347447 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) single nucleotide variant Bloom syndrome [RCV000477040]|Hereditary cancer-predisposing syndrome [RCV001015012]|not provided [RCV004999426] Chr15:90767018 [GRCh38]
Chr15:91310248 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) single nucleotide variant Bloom syndrome [RCV000477094]|Hereditary cancer-predisposing syndrome [RCV001021495] Chr15:90811278 [GRCh38]
Chr15:91354508 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) single nucleotide variant Bloom syndrome [RCV000477248]|Hereditary cancer-predisposing syndrome [RCV001015673]|not provided [RCV001840575]|not specified [RCV001821229] Chr15:90769505 [GRCh38]
Chr15:91312735 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) single nucleotide variant BLM-related disorder [RCV003912796]|Bloom syndrome [RCV000458403]|Hereditary cancer-predisposing syndrome [RCV000572740]|not provided [RCV001579981]|not specified [RCV001821231] Chr15:90809213 [GRCh38]
Chr15:91352443 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.725C>G (p.Pro242Arg) single nucleotide variant Bloom syndrome [RCV000458587]|Hereditary cancer-predisposing syndrome [RCV002379421] Chr15:90749993 [GRCh38]
Chr15:91293223 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.377C>T (p.Pro126Leu) single nucleotide variant Bloom syndrome [RCV000466017]|Hereditary cancer-predisposing syndrome [RCV001021118]|not provided [RCV003477942] Chr15:90749645 [GRCh38]
Chr15:91292875 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala) single nucleotide variant Bloom syndrome [RCV000466196] Chr15:90790805 [GRCh38]
Chr15:91334035 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) single nucleotide variant Bloom syndrome [RCV000469793] Chr15:90747416 [GRCh38]
Chr15:91290646 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2877A>C (p.Arg959=) single nucleotide variant Bloom syndrome [RCV000469819]|Hereditary cancer-predisposing syndrome [RCV002436478] Chr15:90790702 [GRCh38]
Chr15:91333932 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) single nucleotide variant Bloom syndrome [RCV000469889]|Hereditary cancer-predisposing syndrome [RCV000570597]|not provided [RCV003105908] Chr15:90782885 [GRCh38]
Chr15:91326115 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe) single nucleotide variant Bloom syndrome [RCV000473419]|Hereditary cancer-predisposing syndrome [RCV001015302]|not specified [RCV001821234] Chr15:90769192 [GRCh38]
Chr15:91312422 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2049A>G (p.Glu683=) single nucleotide variant Bloom syndrome [RCV000473520]|Hereditary cancer-predisposing syndrome [RCV001014232]|not provided [RCV004722804] Chr15:90763132 [GRCh38]
Chr15:91306362 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.320dup (p.Leu107fs) duplication Bloom syndrome [RCV000477306]|Hereditary breast ovarian cancer syndrome [RCV001030680]|Hereditary cancer-predisposing syndrome [RCV002257685] Chr15:90749586..90749587 [GRCh38]
Chr15:91292816..91292817 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.387_389del (p.Lys130del) deletion Bloom syndrome [RCV001085649]|Hereditary cancer-predisposing syndrome [RCV001021327]|not provided [RCV000766767]|not specified [RCV000478740] Chr15:90749653..90749655 [GRCh38]
Chr15:91292883..91292885 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000057.4(BLM):c.1235C>T (p.Thr412Met) single nucleotide variant Bloom syndrome [RCV000462668]|Hereditary cancer-predisposing syndrome [RCV001010480]|not provided [RCV003477940] Chr15:90760608 [GRCh38]
Chr15:91303838 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2428G>C (p.Asp810His) single nucleotide variant Bloom syndrome [RCV000466282]|Hereditary cancer-predisposing syndrome [RCV002446780] Chr15:90769459 [GRCh38]
Chr15:91312689 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) single nucleotide variant Bloom syndrome [RCV000477499]|Hereditary cancer-predisposing syndrome [RCV002451078]|not provided [RCV003441864]|not specified [RCV003151059] Chr15:90769463 [GRCh38]
Chr15:91312693 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.671A>C (p.Gln224Pro) single nucleotide variant Bloom syndrome [RCV000471562]|Hereditary cancer-predisposing syndrome [RCV002374753] Chr15:90749939 [GRCh38]
Chr15:91293169 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2490G>A (p.Thr830=) single nucleotide variant Bloom syndrome [RCV000533547]|Hereditary cancer-predisposing syndrome [RCV001015688]|not specified [RCV000500937] Chr15:90769521 [GRCh38]
Chr15:91312751 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.191A>G (p.Asp64Gly) single nucleotide variant not specified [RCV000503861] Chr15:90749459 [GRCh38]
Chr15:91292689 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+4T>C single nucleotide variant Bloom syndrome [RCV001851403]|not specified [RCV000501975] Chr15:90811410 [GRCh38]
Chr15:91354640 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3		 likely pathogenic
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe) single nucleotide variant Bloom syndrome [RCV000697513]|Hereditary cancer-predisposing syndrome [RCV000708671]|not provided [RCV004997187]|not specified [RCV004689860] Chr15:90751874 [GRCh38]
Chr15:91295104 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2635C>G (p.Leu879Val) single nucleotide variant Bloom syndrome [RCV000700665] Chr15:90782901 [GRCh38]
Chr15:91326131 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr) single nucleotide variant Bloom syndrome [RCV000702507]|Hereditary cancer-predisposing syndrome [RCV002422580] Chr15:90763056 [GRCh38]
Chr15:91306286 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) single nucleotide variant Bloom syndrome [RCV000703064]|Hereditary cancer-predisposing syndrome [RCV002406636]|not provided [RCV001766546] Chr15:90761241 [GRCh38]
Chr15:91304471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2506del (p.Arg836fs) deletion Bloom syndrome [RCV000705086] Chr15:90769537 [GRCh38]
Chr15:91312767 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2663-2A>G single nucleotide variant Bloom syndrome [RCV000709368] Chr15:90784919 [GRCh38]
Chr15:91328149 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn) single nucleotide variant Bloom syndrome [RCV000691225] Chr15:90803634 [GRCh38]
Chr15:91346864 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe) single nucleotide variant Bloom syndrome [RCV000692408] Chr15:90809166 [GRCh38]
Chr15:91352396 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala) single nucleotide variant Bloom syndrome [RCV000692722]|Hereditary cancer-predisposing syndrome [RCV002422502]|not provided [RCV002477564] Chr15:90763134 [GRCh38]
Chr15:91306364 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) single nucleotide variant Bloom syndrome [RCV000693981]|Hereditary cancer-predisposing syndrome [RCV002397409]|not provided [RCV003442031] Chr15:90761004 [GRCh38]
Chr15:91304234 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2524C>A (p.Leu842Met) single nucleotide variant Bloom syndrome [RCV000532085]|Hereditary cancer-predisposing syndrome [RCV001015818] Chr15:90769555 [GRCh38]
Chr15:91312785 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.380C>T (p.Thr127Ile) single nucleotide variant Bloom syndrome [RCV001215711]|Colorectal cancer [RCV005359948]|Hereditary cancer-predisposing syndrome [RCV002365970] Chr15:90749648 [GRCh38]
Chr15:91292878 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) single nucleotide variant Bloom syndrome [RCV000768157]|Hereditary cancer-predisposing syndrome [RCV003279048]|not provided [RCV003884722]|not specified [RCV001816825] Chr15:90798246 [GRCh38]
Chr15:91341476 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) duplication Bloom syndrome [RCV000560371] Chr15:90760666..90760667 [GRCh38]
Chr15:91303896..91303897 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.837A>T (p.Glu279Asp) single nucleotide variant Bloom syndrome [RCV005102665]|Hereditary cancer-predisposing syndrome [RCV003300836]|not provided [RCV004779533] Chr15:90751824 [GRCh38]
Chr15:91295054 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) single nucleotide variant Bloom syndrome [RCV000686959]|Hereditary cancer [RCV004698841]|Hereditary cancer-predisposing syndrome [RCV000575453] Chr15:90804216 [GRCh38]
Chr15:91347446 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1404T>C (p.Cys468=) single nucleotide variant Bloom syndrome [RCV000945031]|Hereditary cancer-predisposing syndrome [RCV000575497] Chr15:90760777 [GRCh38]
Chr15:91304007 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1788A>G (p.Val596=) single nucleotide variant Bloom syndrome [RCV000538697]|Hereditary cancer-predisposing syndrome [RCV004948386] Chr15:90761161 [GRCh38]
Chr15:91304391 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) single nucleotide variant BLM-related disorder [RCV003905491]|Bloom syndrome [RCV000628715]|Hereditary cancer-predisposing syndrome [RCV000564769]|not provided [RCV001805194] Chr15:90809198 [GRCh38]
Chr15:91352428 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) single nucleotide variant Bloom syndrome [RCV000557690]|Hereditary cancer-predisposing syndrome [RCV002395271] Chr15:90760835 [GRCh38]
Chr15:91304065 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.765T>C (p.Ser255=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278193] Chr15:90750033 [GRCh38]
Chr15:91293263 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3480del (p.Leu1159_Tyr1160insTer) deletion Hereditary cancer-predisposing syndrome [RCV003278194] Chr15:90803642 [GRCh38]
Chr15:91346872 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2883G>T (p.Val961=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278197] Chr15:90790708 [GRCh38]
Chr15:91333938 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) single nucleotide variant Bloom syndrome [RCV000628623]|Hereditary cancer-predisposing syndrome [RCV000575777]|not provided [RCV003478275] Chr15:90749392 [GRCh38]
Chr15:91292622 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp) single nucleotide variant Bloom syndrome [RCV001043175]|Hereditary cancer-predisposing syndrome [RCV000575877] Chr15:90794208 [GRCh38]
Chr15:91337438 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2339T>C (p.Leu780Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278198] Chr15:90769164 [GRCh38]
Chr15:91312394 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2196T>G (p.Ile732Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278200] Chr15:90766912 [GRCh38]
Chr15:91310142 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1328C>G (p.Ser443Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278201] Chr15:90760701 [GRCh38]
Chr15:91303931 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.358T>C (p.Cys120Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278203] Chr15:90749626 [GRCh38]
Chr15:91292856 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1182G>T (p.Leu394Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278212] Chr15:90760241 [GRCh38]
Chr15:91303471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.571A>G (p.Arg191Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278216] Chr15:90749839 [GRCh38]
Chr15:91293069 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4077-5T>C single nucleotide variant Bloom syndrome [RCV000539615]|Hereditary cancer-predisposing syndrome [RCV001021816]|not provided [RCV001702499] Chr15:90815097 [GRCh38]
Chr15:91358327 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1968dup (p.Lys657fs) duplication Bloom syndrome [RCV000586500]|Hereditary cancer-predisposing syndrome [RCV001013870]|not provided [RCV004592901] Chr15:90763050..90763051 [GRCh38]
Chr15:91306280..91306281 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3019+7T>C single nucleotide variant Bloom syndrome [RCV000559098]|not provided [RCV003478100] Chr15:90790851 [GRCh38]
Chr15:91334081 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.715G>C (p.Asp239His) single nucleotide variant Bloom syndrome [RCV000540527]|Hereditary breast ovarian cancer syndrome [RCV001030681]|Hereditary cancer-predisposing syndrome [RCV001026097] Chr15:90749983 [GRCh38]
Chr15:91293213 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr) single nucleotide variant Bloom syndrome [RCV000536857]|Hereditary cancer-predisposing syndrome [RCV002395274] Chr15:90760878 [GRCh38]
Chr15:91304108 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly) single nucleotide variant Bloom syndrome [RCV000700117]|Hereditary cancer-predisposing syndrome [RCV000571956]|not provided [RCV005000306] Chr15:90815118 [GRCh38]
Chr15:91358348 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) single nucleotide variant Bloom syndrome [RCV000541196]|Hereditary breast ovarian cancer syndrome [RCV001030457]|Hereditary cancer-predisposing syndrome [RCV001016575]|Ovarian cancer [RCV003153670]|not provided [RCV003478099]|not specified [RCV001194357] Chr15:90790664 [GRCh38]
Chr15:91333894 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs) indel Bloom syndrome [RCV003316914] Chr15:90782869..90782880 [GRCh38]
Chr15:91326099..91326110 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) single nucleotide variant Bloom syndrome [RCV000555534]|Hereditary cancer-predisposing syndrome [RCV002350165] Chr15:90804351 [GRCh38]
Chr15:91347581 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.931G>T (p.Ala311Ser) single nucleotide variant Bloom syndrome [RCV000706298]|Hereditary cancer-predisposing syndrome [RCV000572354]|not provided [RCV005000307] Chr15:90751918 [GRCh38]
Chr15:91295148 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys) single nucleotide variant Bloom syndrome [RCV000556376]|Hereditary cancer-predisposing syndrome [RCV001018756] Chr15:90794278 [GRCh38]
Chr15:91337508 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2679T>C (p.Ile893=) single nucleotide variant Bloom syndrome [RCV000533933]|Hereditary cancer-predisposing syndrome [RCV001016291] Chr15:90784937 [GRCh38]
Chr15:91328167 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.623T>G (p.Leu208Trp) single nucleotide variant Bloom syndrome [RCV000534140]|Hereditary cancer-predisposing syndrome [RCV002367760] Chr15:90749891 [GRCh38]
Chr15:91293121 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala) single nucleotide variant Bloom syndrome [RCV000556843]|Hereditary cancer-predisposing syndrome [RCV001017026] Chr15:90754878 [GRCh38]
Chr15:91298108 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.457G>C (p.Asp153His) single nucleotide variant Bloom syndrome [RCV000557191]|Hereditary cancer-predisposing syndrome [RCV002341244]|not provided [RCV005001072] Chr15:90749725 [GRCh38]
Chr15:91292955 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) single nucleotide variant Bloom syndrome [RCV000534857]|Hereditary cancer-predisposing syndrome [RCV001019082]|not provided [RCV002307531] Chr15:90794338 [GRCh38]
Chr15:91337568 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) single nucleotide variant Bloom syndrome [RCV000543803]|Hereditary cancer-predisposing syndrome [RCV001022081]|not provided [RCV002476078] Chr15:90815245 [GRCh38]
Chr15:91358475 [GRCh37]
Chr15:15q26.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.326C>G (p.Pro109Arg) single nucleotide variant Bloom syndrome [RCV000628668]|Hereditary cancer-predisposing syndrome [RCV002325192] Chr15:90749594 [GRCh38]
Chr15:91292824 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1291A>G (p.Arg431Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300840] Chr15:90760664 [GRCh38]
Chr15:91303894 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1113G>C (p.Gln371His) single nucleotide variant Bloom syndrome [RCV005061212]|Hereditary cancer-predisposing syndrome [RCV003300842] Chr15:90760172 [GRCh38]
Chr15:91303402 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3039T>A (p.His1013Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300852] Chr15:90794186 [GRCh38]
Chr15:91337416 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.751G>T (p.Asp251Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300853] Chr15:90750019 [GRCh38]
Chr15:91293249 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys) single nucleotide variant Bloom syndrome [RCV000628626] Chr15:90760888 [GRCh38]
Chr15:91304118 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly) single nucleotide variant Bloom syndrome [RCV000628627]|Hereditary cancer-predisposing syndrome [RCV002404717] Chr15:90761064 [GRCh38]
Chr15:91304294 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3559-1G>A single nucleotide variant Bloom syndrome [RCV000628634] Chr15:90804166 [GRCh38]
Chr15:91347396 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2960C>G (p.Ser987Cys) single nucleotide variant Bloom syndrome [RCV000628637] Chr15:90790785 [GRCh38]
Chr15:91334015 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) single nucleotide variant Bloom syndrome [RCV000628646]|Hereditary cancer-predisposing syndrome [RCV001016635]|not provided [RCV003322798] Chr15:90785064 [GRCh38]
Chr15:91328294 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2480T>A (p.Met827Lys) single nucleotide variant Bloom syndrome [RCV000628648]|Hereditary cancer-predisposing syndrome [RCV001015648] Chr15:90769511 [GRCh38]
Chr15:91312741 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr) single nucleotide variant Bloom syndrome [RCV000628653]|Hereditary cancer-predisposing syndrome [RCV004025325] Chr15:90769137 [GRCh38]
Chr15:91312367 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.800-3T>G single nucleotide variant Bloom syndrome [RCV000628659]|Hereditary cancer-predisposing syndrome [RCV001027053]|not provided [RCV005000395] Chr15:90751784 [GRCh38]
Chr15:91295014 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2983T>C (p.Tyr995His) single nucleotide variant Bloom syndrome [RCV000628665]|Hereditary cancer-predisposing syndrome [RCV002438628] Chr15:90790808 [GRCh38]
Chr15:91334038 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys) single nucleotide variant Bloom syndrome [RCV000628688]|Hereditary cancer-predisposing syndrome [RCV002360492] Chr15:90760596 [GRCh38]
Chr15:91303826 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) single nucleotide variant BLM-related disorder [RCV003905678]|Bloom syndrome [RCV000628692]|Hereditary cancer-predisposing syndrome [RCV001021317]|not provided [RCV003478340] Chr15:90809252 [GRCh38]
Chr15:91352482 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) single nucleotide variant Bloom syndrome [RCV000628694]|Hereditary cancer-predisposing syndrome [RCV001019091] Chr15:90794342 [GRCh38]
Chr15:91337572 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) single nucleotide variant Bloom syndrome [RCV000628706]|Hereditary cancer-predisposing syndrome [RCV002325194] Chr15:90815135 [GRCh38]
Chr15:91358365 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.489T>C (p.Ser163=) single nucleotide variant Bloom syndrome [RCV000628712]|Hereditary cancer-predisposing syndrome [RCV002334045] Chr15:90749757 [GRCh38]
Chr15:91292987 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.201T>C (p.Val67=) single nucleotide variant Bloom syndrome [RCV000628718]|Hereditary cancer-predisposing syndrome [RCV002420669]|not provided [RCV003478341] Chr15:90749469 [GRCh38]
Chr15:91292699 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4015A>G (p.Met1339Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306765] Chr15:90811345 [GRCh38]
Chr15:91354575 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2347C>G (p.Leu783Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306766] Chr15:90769172 [GRCh38]
Chr15:91312402 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1342A>G (p.Asn448Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306769] Chr15:90760715 [GRCh38]
Chr15:91303945 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.473A>G (p.Asp158Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306770] Chr15:90749741 [GRCh38]
Chr15:91292971 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4174G>C (p.Ala1392Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306771] Chr15:90815199 [GRCh38]
Chr15:91358429 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2130T>C (p.Thr710=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306772] Chr15:90765351 [GRCh38]
Chr15:91308581 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1414A>G (p.Thr472Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306773] Chr15:90760787 [GRCh38]
Chr15:91304017 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3564C>T (p.Asp1188=) single nucleotide variant Bloom syndrome [RCV003777234]|Hereditary cancer-predisposing syndrome [RCV003306774] Chr15:90804172 [GRCh38]
Chr15:91347402 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3348C>A (p.Asp1116Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306775] Chr15:90798327 [GRCh38]
Chr15:91341557 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1639A>G (p.Thr547Ala) single nucleotide variant Bloom syndrome [RCV005102796]|Hereditary cancer-predisposing syndrome [RCV003306776] Chr15:90761012 [GRCh38]
Chr15:91304242 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2873T>A (p.Val958Glu) single nucleotide variant Bloom syndrome [RCV000556048] Chr15:90790698 [GRCh38]
Chr15:91333928 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) single nucleotide variant Bloom syndrome [RCV001058471]|Hereditary cancer-predisposing syndrome [RCV000571670]|Ovarian cancer [RCV003153744] Chr15:90760159 [GRCh38]
Chr15:91303389 [GRCh37]
Chr15:15q26.1		 benign|likely benign|uncertain significance
NM_000057.4(BLM):c.679G>A (p.Asp227Asn) single nucleotide variant Bloom syndrome [RCV000537210] Chr15:90749947 [GRCh38]
Chr15:91293177 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2662T>C (p.Tyr888His) single nucleotide variant Bloom syndrome [RCV000560159]|Hereditary cancer-predisposing syndrome [RCV002257782]|not provided [RCV003478098] Chr15:90782928 [GRCh38]
Chr15:91326158 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.933T>C (p.Ala311=) single nucleotide variant Bloom syndrome [RCV000533185]|Hereditary cancer-predisposing syndrome [RCV002376979] Chr15:90751920 [GRCh38]
Chr15:91295150 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.57A>T (p.Arg19Ser) single nucleotide variant Bloom syndrome [RCV000560243]|Hereditary cancer-predisposing syndrome [RCV001024545] Chr15:90747449 [GRCh38]
Chr15:91290679 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1191G>C (p.Gly397=) single nucleotide variant Bloom syndrome [RCV000538376]|Hereditary cancer-predisposing syndrome [RCV002341243] Chr15:90760250 [GRCh38]
Chr15:91303480 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly) single nucleotide variant Bloom syndrome [RCV000628612]|Hereditary cancer-predisposing syndrome [RCV004948479] Chr15:90760225 [GRCh38]
Chr15:91303455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn) single nucleotide variant Bloom syndrome [RCV000628633] Chr15:90790742 [GRCh38]
Chr15:91333972 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2605A>C (p.Lys869Gln) single nucleotide variant Bloom syndrome [RCV000628635] Chr15:90782871 [GRCh38]
Chr15:91326101 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.752A>T (p.Asp251Val) single nucleotide variant Bloom syndrome [RCV000628640]|Hereditary cancer-predisposing syndrome [RCV003162777] Chr15:90750020 [GRCh38]
Chr15:91293250 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3924A>T (p.Gly1308=) single nucleotide variant Bloom syndrome [RCV000628650]|Hereditary cancer-predisposing syndrome [RCV002377339] Chr15:90811254 [GRCh38]
Chr15:91354484 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) single nucleotide variant Bloom syndrome [RCV000628652]|Hereditary cancer-predisposing syndrome [RCV001025173] Chr15:90749903 [GRCh38]
Chr15:91293133 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2539del (p.Ile847fs) deletion Bloom syndrome [RCV000628660] Chr15:90769570 [GRCh38]
Chr15:91312800 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.874GAT[5] (p.Asp295dup) microsatellite Bloom syndrome [RCV000628661]|Hereditary cancer-predisposing syndrome [RCV004948481]|not provided [RCV004691948] Chr15:90751859..90751860 [GRCh38]
Chr15:91295089..91295090 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly) single nucleotide variant Bloom syndrome [RCV000628669]|Hereditary cancer-predisposing syndrome [RCV002431846] Chr15:90769537 [GRCh38]
Chr15:91312767 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3238G>C (p.Asp1080His) single nucleotide variant Bloom syndrome [RCV000628676]|Hereditary cancer-predisposing syndrome [RCV002325193] Chr15:90798217 [GRCh38]
Chr15:91341447 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.371A>G (p.Asn124Ser) single nucleotide variant Bloom syndrome [RCV000628679]|Hereditary cancer-predisposing syndrome [RCV003162778] Chr15:90749639 [GRCh38]
Chr15:91292869 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr) single nucleotide variant Bloom syndrome [RCV000628680] Chr15:90785026 [GRCh38]
Chr15:91328256 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.960-4G>A single nucleotide variant BLM-related disorder [RCV003420088]|Bloom syndrome [RCV000628697]|Hereditary cancer-predisposing syndrome [RCV001019548] Chr15:90754807 [GRCh38]
Chr15:91298037 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) single nucleotide variant Bloom syndrome [RCV000628708]|Hereditary cancer-predisposing syndrome [RCV003352945] Chr15:90804355 [GRCh38]
Chr15:91347585 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) single nucleotide variant Bloom syndrome [RCV000628716]|Hereditary cancer-predisposing syndrome [RCV001022084] Chr15:90815249 [GRCh38]
Chr15:91358479 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) single nucleotide variant Bloom syndrome [RCV000556974]|Hereditary cancer-predisposing syndrome [RCV001015892]|not provided [RCV004722867] Chr15:90782860 [GRCh38]
Chr15:91326090 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.213_214del (p.Ser72fs) deletion Bloom syndrome [RCV000534534]|Hereditary cancer-predisposing syndrome [RCV002420336] Chr15:90749479..90749480 [GRCh38]
Chr15:91292709..91292710 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2281A>G (p.Lys761Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572987] Chr15:90766997 [GRCh38]
Chr15:91310227 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe) single nucleotide variant Bloom syndrome [RCV000539301]|Hereditary cancer-predisposing syndrome [RCV002350163] Chr15:90760260 [GRCh38]
Chr15:91303490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.936T>A (p.Ser312=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278199] Chr15:90751923 [GRCh38]
Chr15:91295153 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4012A>C (p.Lys1338Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278205] Chr15:90811342 [GRCh38]
Chr15:91354572 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.169A>G (p.Thr57Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278207] Chr15:90749437 [GRCh38]
Chr15:91292667 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.654A>G (p.Ile218Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278208] Chr15:90749922 [GRCh38]
Chr15:91293152 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2356A>C (p.Arg786=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278210] Chr15:90769181 [GRCh38]
Chr15:91312411 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823G>T (p.Gln941His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278211] Chr15:90785081 [GRCh38]
Chr15:91328311 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg) single nucleotide variant Bloom syndrome [RCV000558307]|Hereditary cancer-predisposing syndrome [RCV002431504] Chr15:90769547 [GRCh38]
Chr15:91312777 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2407-7del deletion Bloom syndrome [RCV000539579]|not provided [RCV004822091]|not specified [RCV001821468] Chr15:90769430 [GRCh38]
Chr15:91312660 [GRCh37]
Chr15:15q26.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr) single nucleotide variant Bloom syndrome [RCV000628663]|Hereditary cancer-predisposing syndrome [RCV000571162] Chr15:90804177 [GRCh38]
Chr15:91347407 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+9T>C single nucleotide variant Bloom syndrome [RCV000540180] Chr15:90798346 [GRCh38]
Chr15:91341576 [GRCh37]
Chr15:15q26.1		 likely benign
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_000057.4(BLM):c.245A>G (p.Asn82Ser) single nucleotide variant Bloom syndrome [RCV000628614]|Hereditary cancer-predisposing syndrome [RCV002448923] Chr15:90749513 [GRCh38]
Chr15:91292743 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.491A>C (p.Glu164Ala) single nucleotide variant Bloom syndrome [RCV000628615] Chr15:90749759 [GRCh38]
Chr15:91292989 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.208G>A (p.Asp70Asn) single nucleotide variant Bloom syndrome [RCV000628617]|Hereditary cancer-predisposing syndrome [RCV001014393]|not provided [RCV004773048] Chr15:90749476 [GRCh38]
Chr15:91292706 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro) single nucleotide variant Bloom syndrome [RCV000628622] Chr15:90763023 [GRCh38]
Chr15:91306253 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe) single nucleotide variant Bloom syndrome [RCV000628632] Chr15:90760704 [GRCh38]
Chr15:91303934 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe) single nucleotide variant Bloom syndrome [RCV000628639]|Hereditary cancer-predisposing syndrome [RCV004948480] Chr15:90766910 [GRCh38]
Chr15:91310140 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1121A>G (p.His374Arg) single nucleotide variant Bloom syndrome [RCV000628642]|Hereditary cancer-predisposing syndrome [RCV002438627] Chr15:90760180 [GRCh38]
Chr15:91303410 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) single nucleotide variant Bloom syndrome [RCV000628643]|Hereditary cancer-predisposing syndrome [RCV002431845] Chr15:90784930 [GRCh38]
Chr15:91328160 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) single nucleotide variant Bloom syndrome [RCV000628645]|Hereditary breast ovarian cancer syndrome [RCV001030462]|Hereditary cancer-predisposing syndrome [RCV001021691] Chr15:90811352 [GRCh38]
Chr15:91354582 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) single nucleotide variant Bloom syndrome [RCV000628649]|Hereditary cancer-predisposing syndrome [RCV001016461]|not provided [RCV005231196] Chr15:90784998 [GRCh38]
Chr15:91328228 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln) single nucleotide variant Bloom syndrome [RCV000628656]|Hereditary cancer-predisposing syndrome [RCV001015520]|Ovarian cancer [RCV003153768] Chr15:90769465 [GRCh38]
Chr15:91312695 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) single nucleotide variant Bloom syndrome [RCV000628666] Chr15:90765371 [GRCh38]
Chr15:91308601 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2452C>G (p.Arg818Gly) single nucleotide variant Bloom syndrome [RCV000628675] Chr15:90769483 [GRCh38]
Chr15:91312713 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) single nucleotide variant Bloom syndrome [RCV000628681]|Hereditary cancer-predisposing syndrome [RCV001015940]|not provided [RCV003478339]|not specified [RCV005407821] Chr15:90782827 [GRCh38]
Chr15:91326057 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) single nucleotide variant Bloom syndrome [RCV000628682]|Hereditary cancer-predisposing syndrome [RCV001020473]|Ovarian cancer [RCV003153769]|not provided [RCV001800832] Chr15:90803667 [GRCh38]
Chr15:91346897 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly) single nucleotide variant Bloom syndrome [RCV000628685]|Hereditary cancer-predisposing syndrome [RCV002457975]|not provided [RCV005000396] Chr15:90803662 [GRCh38]
Chr15:91346892 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp) single nucleotide variant Bloom syndrome [RCV000628689] Chr15:90761236 [GRCh38]
Chr15:91304466 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2070G>T (p.Pro690=) single nucleotide variant Bloom syndrome [RCV000628691]|Hereditary cancer-predisposing syndrome [RCV001014286] Chr15:90763153 [GRCh38]
Chr15:91306383 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3358+7_3358+13del deletion Bloom syndrome [RCV000628699] Chr15:90798342..90798348 [GRCh38]
Chr15:91341572..91341578 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.204C>T (p.Thr68=) single nucleotide variant Bloom syndrome [RCV000628700]|Hereditary cancer-predisposing syndrome [RCV001014239]|not specified [RCV001821767] Chr15:90749472 [GRCh38]
Chr15:91292702 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.1245T>C (p.Asp415=) single nucleotide variant Bloom syndrome [RCV000628701]|Hereditary cancer-predisposing syndrome [RCV001010531] Chr15:90760618 [GRCh38]
Chr15:91303848 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) single nucleotide variant Bloom syndrome [RCV000628707]|Hereditary cancer-predisposing syndrome [RCV001021446]|not specified [RCV001821768] Chr15:90811251 [GRCh38]
Chr15:91354481 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2709C>T (p.Thr903=) single nucleotide variant Bloom syndrome [RCV000628714]|Hereditary cancer-predisposing syndrome [RCV002257865] Chr15:90784967 [GRCh38]
Chr15:91328197 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3960dup (p.Val1321fs) duplication Bloom syndrome [RCV000684874] Chr15:90811287..90811288 [GRCh38]
Chr15:91354517..91354518 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys) single nucleotide variant Bloom syndrome [RCV000687553]|Hereditary cancer-predisposing syndrome [RCV004601242] Chr15:90760150 [GRCh38]
Chr15:91303380 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys) single nucleotide variant Bloom syndrome [RCV000687762]|Hereditary cancer-predisposing syndrome [RCV001015279]|not provided [RCV004997145] Chr15:90769182 [GRCh38]
Chr15:91312412 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg) single nucleotide variant Bloom syndrome [RCV000688281]|Hereditary cancer-predisposing syndrome [RCV004026292] Chr15:90804266 [GRCh38]
Chr15:91347496 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.763A>G (p.Ser255Gly) single nucleotide variant Bloom syndrome [RCV000688739]|Hereditary cancer-predisposing syndrome [RCV002255506] Chr15:90750031 [GRCh38]
Chr15:91293261 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser) single nucleotide variant Bloom syndrome [RCV000690956] Chr15:90760709 [GRCh38]
Chr15:91303939 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.843T>G (p.His281Gln) single nucleotide variant Bloom syndrome [RCV000691005] Chr15:90751830 [GRCh38]
Chr15:91295060 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3305A>G (p.His1102Arg) single nucleotide variant Bloom syndrome [RCV000693515]|Hereditary cancer-predisposing syndrome [RCV003303137] Chr15:90798284 [GRCh38]
Chr15:91341514 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr) single nucleotide variant Bloom syndrome [RCV000693843]|Hereditary cancer-predisposing syndrome [RCV003163172] Chr15:90811256 [GRCh38]
Chr15:91354486 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2315C>T (p.Ala772Val) single nucleotide variant BLM-related disorder [RCV003403611]|Bloom syndrome [RCV000695401]|Hereditary cancer-predisposing syndrome [RCV001015146]|not provided [RCV004997178] Chr15:90769140 [GRCh38]
Chr15:91312370 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.302G>C (p.Arg101Thr) single nucleotide variant Bloom syndrome [RCV000695665]|Hereditary cancer-predisposing syndrome [RCV001018185]|not specified [RCV002249411] Chr15:90749570 [GRCh38]
Chr15:91292800 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) single nucleotide variant Bloom syndrome [RCV000695709]|Hereditary cancer-predisposing syndrome [RCV001011868]|not provided [RCV004792394] Chr15:90760863 [GRCh38]
Chr15:91304093 [GRCh37]
Chr15:15q26.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) deletion Bloom syndrome [RCV000698648]|Hereditary cancer-predisposing syndrome [RCV002440495] Chr15:90751824..90751873 [GRCh38]
Chr15:91295054..91295103 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile) single nucleotide variant Bloom syndrome [RCV000699198]|Hereditary cancer-predisposing syndrome [RCV002388296] Chr15:90760803 [GRCh38]
Chr15:91304033 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.856G>T (p.Val286Phe) single nucleotide variant Bloom syndrome [RCV000699392]|Hereditary cancer-predisposing syndrome [RCV002442489] Chr15:90751843 [GRCh38]
Chr15:91295073 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) single nucleotide variant Bloom syndrome [RCV000700601] Chr15:90760835 [GRCh38]
Chr15:91304065 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1231C>G (p.Leu411Val) single nucleotide variant Bloom syndrome [RCV000702571] Chr15:90760604 [GRCh38]
Chr15:91303834 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile) single nucleotide variant Bloom syndrome [RCV000703283] Chr15:90760941 [GRCh38]
Chr15:91304171 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4G>T (p.Ala2Ser) single nucleotide variant Bloom syndrome [RCV000703785]|Hereditary cancer-predisposing syndrome [RCV002334373] Chr15:90747396 [GRCh38]
Chr15:91290626 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.448A>G (p.Thr150Ala) single nucleotide variant Bloom syndrome [RCV000704430]|Hereditary cancer-predisposing syndrome [RCV001022563] Chr15:90749716 [GRCh38]
Chr15:91292946 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) single nucleotide variant Bloom syndrome [RCV000705324]|Hereditary cancer-predisposing syndrome [RCV001021526]|not provided [RCV001579393] Chr15:90749663 [GRCh38]
Chr15:91292893 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.959G>C (p.Ser320Thr) single nucleotide variant Bloom syndrome [RCV000705456]|Hereditary cancer-predisposing syndrome [RCV001019525]|not provided [RCV001772005] Chr15:90751946 [GRCh38]
Chr15:91295176 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556-8T>C single nucleotide variant Bloom syndrome [RCV000709365]|Hereditary cancer [RCV003492150]|Hereditary cancer-predisposing syndrome [RCV002256491]|not provided [RCV004997221] Chr15:90782814 [GRCh38]
Chr15:91326044 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.645C>G (p.Ser215Arg) single nucleotide variant Bloom syndrome [RCV000709357] Chr15:90749913 [GRCh38]
Chr15:91293143 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr) single nucleotide variant Bloom syndrome [RCV000810866]|Hereditary cancer-predisposing syndrome [RCV000708667] Chr15:90790839 [GRCh38]
Chr15:91334069 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+3_98+6del deletion Bloom syndrome [RCV000665548]|Hereditary cancer-predisposing syndrome [RCV002386142] Chr15:90747491..90747494 [GRCh38]
Chr15:91290721..91290724 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs) microsatellite Bloom syndrome [RCV000665636] Chr15:90769170..90769171 [GRCh38]
Chr15:91312400..91312401 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) deletion Bloom syndrome [RCV000665891]|Hereditary cancer-predisposing syndrome [RCV003163059] Chr15:90761002..90761007 [GRCh38]
Chr15:91304232..91304237 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1399dup (p.Asp467fs) duplication Bloom syndrome [RCV000666095] Chr15:90760768..90760769 [GRCh38]
Chr15:91303998..91303999 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3589del (p.Ser1197fs) deletion Bloom syndrome [RCV000666859] Chr15:90804197 [GRCh38]
Chr15:91347427 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2824-1G>C single nucleotide variant Bloom syndrome [RCV000666970] Chr15:90790648 [GRCh38]
Chr15:91333878 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.99-1G>C single nucleotide variant Bloom syndrome [RCV000668031] Chr15:90749366 [GRCh38]
Chr15:91292596 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1549dup (p.Ser517fs) duplication Bloom syndrome [RCV000668337] Chr15:90760919..90760920 [GRCh38]
Chr15:91304149..91304150 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2407-9del deletion Bloom syndrome [RCV000668702] Chr15:90769421 [GRCh38]
Chr15:91312651 [GRCh37]
Chr15:15q26.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1151del (p.Asp384fs) deletion Bloom syndrome [RCV000668935] Chr15:90760210 [GRCh38]
Chr15:91303440 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3753del (p.Glu1251fs) deletion Bloom syndrome [RCV000670350] Chr15:90809137 [GRCh38]
Chr15:91352367 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1316del (p.Met439fs) deletion Bloom syndrome [RCV000670355] Chr15:90760689 [GRCh38]
Chr15:91303919 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del) microsatellite Bloom syndrome [RCV000670752] Chr15:90749586..90749588 [GRCh38]
Chr15:91292816..91292818 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2807del (p.Asn936fs) deletion Bloom syndrome [RCV000671509] Chr15:90785064 [GRCh38]
Chr15:91328294 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.959+1_959+9del deletion Bloom syndrome [RCV000672659]|not provided [RCV004788101] Chr15:90751944..90751952 [GRCh38]
Chr15:91295174..91295182 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) deletion Bloom syndrome [RCV000673428]|Hereditary cancer-predisposing syndrome [RCV003303099] Chr15:90749746..90749747 [GRCh38]
Chr15:91292976..91292977 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.942del (p.Ser315fs) deletion Bloom syndrome [RCV000674509]|Hereditary cancer-predisposing syndrome [RCV002442401] Chr15:90751928 [GRCh38]
Chr15:91295158 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) single nucleotide variant Bloom syndrome [RCV000674920] Chr15:90760997 [GRCh38]
Chr15:91304227 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3917del (p.Gly1306fs) deletion Bloom syndrome [RCV000675024] Chr15:90811246 [GRCh38]
Chr15:91354476 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3445del (p.Lys1148_Leu1149insTer) deletion not provided [RCV000657840] Chr15:90803607 [GRCh38]
Chr15:91346837 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3874+2T>C single nucleotide variant Bloom syndrome [RCV000665122]|Hereditary cancer-predisposing syndrome [RCV004948557] Chr15:90809261 [GRCh38]
Chr15:91352491 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) duplication Bloom syndrome [RCV000665528] Chr15:90749943..90749944 [GRCh38]
Chr15:91293173..91293174 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) single nucleotide variant Bloom syndrome [RCV000666358] Chr15:90815157 [GRCh38]
Chr15:91358387 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220+1G>A single nucleotide variant Bloom syndrome [RCV000668749] Chr15:90760280 [GRCh38]
Chr15:91303510 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4123del (p.Ser1375fs) deletion Bloom syndrome [RCV000669066] Chr15:90815148 [GRCh38]
Chr15:91358378 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.608_609del (p.Thr203fs) microsatellite Bloom syndrome [RCV000669465] Chr15:90749873..90749874 [GRCh38]
Chr15:91293103..91293104 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) deletion Bloom syndrome [RCV000672550] Chr15:90790841..90790842 [GRCh38]
Chr15:91334071..91334072 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) single nucleotide variant Bloom syndrome [RCV000674804]|Hereditary cancer-predisposing syndrome [RCV001016753] Chr15:90790665 [GRCh38]
Chr15:91333895 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3499del (p.Ala1167fs) deletion Bloom syndrome [RCV000665331]|Hereditary cancer-predisposing syndrome [RCV001020451] Chr15:90803660 [GRCh38]
Chr15:91346890 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1883-2A>G single nucleotide variant Bloom syndrome [RCV000668047] Chr15:90762964 [GRCh38]
Chr15:91306194 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1088-1G>A single nucleotide variant Bloom syndrome [RCV000669294] Chr15:90760146 [GRCh38]
Chr15:91303376 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) single nucleotide variant Bloom syndrome [RCV000681632]|Hereditary cancer-predisposing syndrome [RCV001020308] Chr15:90803601 [GRCh38]
Chr15:91346831 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) single nucleotide variant Bloom syndrome [RCV000665192]|Hereditary cancer-predisposing syndrome [RCV002331302] Chr15:90815277 [GRCh38]
Chr15:91358507 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) deletion Bloom syndrome [RCV000666852]|Hereditary cancer-predisposing syndrome [RCV002442393]|not provided [RCV002260657] Chr15:90798201..90798202 [GRCh38]
Chr15:91341431..91341432 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2407-1G>A single nucleotide variant Bloom syndrome [RCV000667408] Chr15:90769437 [GRCh38]
Chr15:91312667 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1210del (p.Arg404fs) deletion Bloom syndrome [RCV000670863] Chr15:90760269 [GRCh38]
Chr15:91303499 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1752del (p.Gln585fs) deletion Bloom syndrome [RCV000671163]|not provided [RCV005091951] Chr15:90761125 [GRCh38]
Chr15:91304355 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) single nucleotide variant Bloom syndrome [RCV000664476]|Hereditary cancer-predisposing syndrome [RCV002325337] Chr15:90794310 [GRCh38]
Chr15:91337540 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1114del (p.Ile373fs) deletion Bloom syndrome [RCV000664785] Chr15:90760173 [GRCh38]
Chr15:91303403 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) single nucleotide variant Bloom syndrome [RCV000664850] Chr15:90811267 [GRCh38]
Chr15:91354497 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del) microsatellite Bloom syndrome [RCV000665917] Chr15:90763046..90763048 [GRCh38]
Chr15:91306276..91306278 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) deletion Bloom syndrome [RCV000669071] Chr15:90811369..90811378 [GRCh38]
Chr15:91354599..91354608 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1087+1G>A single nucleotide variant Bloom syndrome [RCV000669379] Chr15:90754939 [GRCh38]
Chr15:91298169 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) deletion Bloom syndrome [RCV000669425] Chr15:90749493..90749498 [GRCh38]
Chr15:91292723..91292728 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3956del (p.Ile1319fs) deletion Bloom syndrome [RCV000669899] Chr15:90811286 [GRCh38]
Chr15:91354516 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1221-2A>C single nucleotide variant Bloom syndrome [RCV000670242]|not provided [RCV004588096] Chr15:90760592 [GRCh38]
Chr15:91303822 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) insertion Bloom syndrome [RCV000670432]|Hereditary cancer-predisposing syndrome [RCV001010782] Chr15:90749397..90749398 [GRCh38]
Chr15:91292627..91292628 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) single nucleotide variant Bloom syndrome [RCV000671593]|Hereditary cancer-predisposing syndrome [RCV001010863]|not provided [RCV002508246] Chr15:90760674 [GRCh38]
Chr15:91303904 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) microsatellite Bloom syndrome [RCV000673943]|Hereditary cancer-predisposing syndrome [RCV001015091] Chr15:90767004..90767005 [GRCh38]
Chr15:91310234..91310235 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1A>C (p.Met1Leu) single nucleotide variant Bloom syndrome [RCV000674307] Chr15:90747393 [GRCh38]
Chr15:91290623 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.543del (p.Ser181fs) deletion Bloom syndrome [RCV000674476] Chr15:90749811 [GRCh38]
Chr15:91293041 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) deletion Bloom syndrome [RCV000674492]|Hereditary cancer-predisposing syndrome [RCV001020477] Chr15:90803669 [GRCh38]
Chr15:91346899 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del) microsatellite Bloom syndrome [RCV000667310]|Hereditary cancer-predisposing syndrome [RCV001016267] Chr15:90749532..90749534 [GRCh38]
Chr15:91292762..91292764 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) deletion Bloom syndrome [RCV000668805]|not provided [RCV005000480] Chr15:90761189..90761192 [GRCh38]
Chr15:91304419..91304422 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) deletion Bloom syndrome [RCV000668814] Chr15:90760800..90760803 [GRCh38]
Chr15:91304030..91304033 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) deletion Bloom syndrome [RCV000668966] Chr15:90763064..90763065 [GRCh38]
Chr15:91306294..91306295 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3890del (p.Pro1297fs) deletion Bloom syndrome [RCV000670228]|Hereditary cancer-predisposing syndrome [RCV002352094] Chr15:90811217 [GRCh38]
Chr15:91354447 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) deletion Bloom syndrome [RCV000670866] Chr15:90804299..90804300 [GRCh38]
Chr15:91347529..91347530 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3901del (p.Leu1301fs) deletion Bloom syndrome [RCV000671125] Chr15:90811230 [GRCh38]
Chr15:91354460 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) duplication Bloom syndrome [RCV000671684] Chr15:90749751..90749752 [GRCh38]
Chr15:91292981..91292982 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) deletion Bloom syndrome [RCV000672249] Chr15:90804173..90804174 [GRCh38]
Chr15:91347403..91347404 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2555+1G>T single nucleotide variant Bloom syndrome [RCV000673166] Chr15:90769587 [GRCh38]
Chr15:91312817 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) deletion Bloom syndrome [RCV000673753] Chr15:90749748..90749756 [GRCh38]
Chr15:91292978..91292986 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) single nucleotide variant Bloom syndrome [RCV000674782] Chr15:90754921 [GRCh38]
Chr15:91298151 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.933TTC[2] (p.Ser316del) microsatellite Bloom syndrome [RCV000699170]|Hereditary cancer-predisposing syndrome [RCV001019251] Chr15:90751919..90751921 [GRCh38]
Chr15:91295149..91295151 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.343C>T (p.Pro115Ser) single nucleotide variant Bloom syndrome [RCV000696119]|Hereditary cancer-predisposing syndrome [RCV001020311] Chr15:90749611 [GRCh38]
Chr15:91292841 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser) single nucleotide variant Bloom syndrome [RCV000696478] Chr15:90815246 [GRCh38]
Chr15:91358476 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg) single nucleotide variant Bloom syndrome [RCV000696522]|Hereditary cancer-predisposing syndrome [RCV003303152] Chr15:90803562 [GRCh38]
Chr15:91346792 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2662+2T>C single nucleotide variant Bloom syndrome [RCV000700888]|Hereditary cancer-predisposing syndrome [RCV004026532] Chr15:90782930 [GRCh38]
Chr15:91326160 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.577T>C (p.Phe193Leu) single nucleotide variant Bloom syndrome [RCV000701183]|Hereditary cancer-predisposing syndrome [RCV001024525] Chr15:90749845 [GRCh38]
Chr15:91293075 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.803A>G (p.Asn268Ser) single nucleotide variant Bloom syndrome [RCV000701979]|Hereditary cancer-predisposing syndrome [RCV002406627] Chr15:90751790 [GRCh38]
Chr15:91295020 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys) single nucleotide variant Bloom syndrome [RCV000703268] Chr15:90794238 [GRCh38]
Chr15:91337468 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile) single nucleotide variant Bloom syndrome [RCV000705545]|Hereditary cancer-predisposing syndrome [RCV002440537]|not specified [RCV002265866] Chr15:90794168 [GRCh38]
Chr15:91337398 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.835G>T (p.Glu279Ter) single nucleotide variant Bloom syndrome [RCV000706208] Chr15:90751822 [GRCh38]
Chr15:91295052 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser) single nucleotide variant Bloom syndrome [RCV000709366] Chr15:90782836 [GRCh38]
Chr15:91326066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) single nucleotide variant Bloom syndrome [RCV000709370] Chr15:90798319 [GRCh38]
Chr15:91341549 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1972A>G (p.Ile658Val) single nucleotide variant Bloom syndrome [RCV000709361] Chr15:90763055 [GRCh38]
Chr15:91306285 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) single nucleotide variant Bloom syndrome [RCV000709353] Chr15:90747406 [GRCh38]
Chr15:91290636 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.888T>C (p.Tyr296=) single nucleotide variant Bloom syndrome [RCV001457740]|Hereditary cancer-predisposing syndrome [RCV000708672] Chr15:90751875 [GRCh38]
Chr15:91295105 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1556A>G (p.Tyr519Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708665] Chr15:90760929 [GRCh38]
Chr15:91304159 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) single nucleotide variant Bloom syndrome [RCV000685874]|Hereditary cancer-predisposing syndrome [RCV002422467] Chr15:90760147 [GRCh38]
Chr15:91303377 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) single nucleotide variant Bloom syndrome [RCV000687324]|Colorectal cancer [RCV005357911]|Hereditary cancer-predisposing syndrome [RCV001020601]|not provided [RCV002293470] Chr15:90803718 [GRCh38]
Chr15:91346948 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg) single nucleotide variant Bloom syndrome [RCV000689339]|Hereditary cancer-predisposing syndrome [RCV001015290]|not provided [RCV005416393]|not specified [RCV001816704] Chr15:90769185 [GRCh38]
Chr15:91312415 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2289A>G (p.Leu763=) single nucleotide variant Bloom syndrome [RCV000691615]|Hereditary cancer-predisposing syndrome [RCV001015074] Chr15:90767005 [GRCh38]
Chr15:91310235 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg) single nucleotide variant Bloom syndrome [RCV000697084]|Hereditary cancer-predisposing syndrome [RCV002424667] Chr15:90782869 [GRCh38]
Chr15:91326099 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile) single nucleotide variant Bloom syndrome [RCV000697977]|Hereditary cancer-predisposing syndrome [RCV001020095]|not provided [RCV003478428] Chr15:90803524 [GRCh38]
Chr15:91346754 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.137A>G (p.Asn46Ser) single nucleotide variant Bloom syndrome [RCV000699899]|Hereditary breast ovarian cancer syndrome [RCV001030678]|Hereditary cancer-predisposing syndrome [RCV002386236] Chr15:90749405 [GRCh38]
Chr15:91292635 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1688A>T (p.Asp563Val) single nucleotide variant Bloom syndrome [RCV000700932]|Hereditary cancer-predisposing syndrome [RCV003352995] Chr15:90761061 [GRCh38]
Chr15:91304291 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile) single nucleotide variant Bloom syndrome [RCV000703554]|Hereditary cancer-predisposing syndrome [RCV001013311]|not provided [RCV001766549] Chr15:90761211 [GRCh38]
Chr15:91304441 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) indel Bloom syndrome [RCV000704332]|Hereditary cancer-predisposing syndrome [RCV002458303] Chr15:90804177 [GRCh38]
Chr15:91347407 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly) single nucleotide variant Bloom syndrome [RCV000704784]|Hereditary cancer-predisposing syndrome [RCV003303188] Chr15:90754857 [GRCh38]
Chr15:91298087 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.280C>T (p.Pro94Ser) single nucleotide variant Bloom syndrome [RCV000706284]|Hereditary cancer-predisposing syndrome [RCV002440544]|not provided [RCV005401587] Chr15:90749548 [GRCh38]
Chr15:91292778 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser) single nucleotide variant Bloom syndrome [RCV000706704]|Hereditary cancer-predisposing syndrome [RCV003353000] Chr15:90765404 [GRCh38]
Chr15:91308634 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr) single nucleotide variant Bloom syndrome [RCV000709369]|Hereditary cancer-predisposing syndrome [RCV004601260] Chr15:90794212 [GRCh38]
Chr15:91337442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) single nucleotide variant Bloom syndrome [RCV000709372] Chr15:90815173 [GRCh38]
Chr15:91358403 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) single nucleotide variant Bloom syndrome [RCV000709359]|Hereditary cancer [RCV003492149]|Hereditary cancer-predisposing syndrome [RCV002352228] Chr15:90760275 [GRCh38]
Chr15:91303505 [GRCh37]
Chr15:15q26.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:91269147-91491760)x3 copy number gain not provided [RCV000683720] Chr15:91269147..91491760 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91263414-91502563)x3 copy number gain not provided [RCV000683719] Chr15:91263414..91502563 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_000057.4(BLM):c.566G>A (p.Gly189Asp) single nucleotide variant Bloom syndrome [RCV000698739]|Hereditary cancer-predisposing syndrome [RCV002343507] Chr15:90749834 [GRCh38]
Chr15:91293064 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val) single nucleotide variant Bloom syndrome [RCV000699029]|Hereditary cancer-predisposing syndrome [RCV001018166]|not provided [RCV002269304] Chr15:90794176 [GRCh38]
Chr15:91337406 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser) single nucleotide variant Bloom syndrome [RCV000699095]|Hereditary cancer-predisposing syndrome [RCV003303171] Chr15:90815235 [GRCh38]
Chr15:91358465 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.13C>T (p.Pro5Ser) single nucleotide variant Bloom syndrome [RCV000699588] Chr15:90747405 [GRCh38]
Chr15:91290635 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro) single nucleotide variant Bloom syndrome [RCV000700399]|Hereditary cancer-predisposing syndrome [RCV001013444] Chr15:90761237 [GRCh38]
Chr15:91304467 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser) single nucleotide variant Bloom syndrome [RCV000700982] Chr15:90790821 [GRCh38]
Chr15:91334051 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2563A>G (p.Met855Val) single nucleotide variant Bloom syndrome [RCV000703461]|Hereditary cancer-predisposing syndrome [RCV004948624] Chr15:90782829 [GRCh38]
Chr15:91326059 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr) single nucleotide variant Bloom syndrome [RCV000704807]|Hereditary cancer-predisposing syndrome [RCV002352206] Chr15:90809211 [GRCh38]
Chr15:91352441 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn) single nucleotide variant Bloom syndrome [RCV000705217] Chr15:90761103 [GRCh38]
Chr15:91304333 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly) single nucleotide variant Bloom syndrome [RCV000705396]|Hereditary cancer-predisposing syndrome [RCV003344019] Chr15:90761181 [GRCh38]
Chr15:91304411 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.724C>T (p.Pro242Ser) single nucleotide variant Bloom syndrome [RCV000706732]|Hereditary cancer-predisposing syndrome [RCV001026195] Chr15:90749992 [GRCh38]
Chr15:91293222 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2340G>A (p.Leu780=) single nucleotide variant Bloom syndrome [RCV000707648]|Hereditary cancer-predisposing syndrome [RCV001015236] Chr15:90769165 [GRCh38]
Chr15:91312395 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90766904)_(90767029_?)del deletion Bloom syndrome [RCV000708231] Chr15:90766904..90767029 [GRCh38]
Chr15:91310134..91310259 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) single nucleotide variant Bloom syndrome [RCV000709373] Chr15:90815221 [GRCh38]
Chr15:91358451 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.794A>G (p.Glu265Gly) single nucleotide variant Bloom syndrome [RCV000686225]|Hereditary cancer-predisposing syndrome [RCV002422470] Chr15:90750062 [GRCh38]
Chr15:91293292 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu) single nucleotide variant Bloom syndrome [RCV000686450] Chr15:90815273 [GRCh38]
Chr15:91358503 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2171T>C (p.Val724Ala) single nucleotide variant Bloom syndrome [RCV000687130]|Hereditary cancer-predisposing syndrome [RCV001014667]|not specified [RCV003117489] Chr15:90765392 [GRCh38]
Chr15:91308622 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1044G>T (p.Met348Ile) single nucleotide variant Bloom syndrome [RCV000688216]|Hereditary cancer-predisposing syndrome [RCV003163119] Chr15:90754895 [GRCh38]
Chr15:91298125 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) single nucleotide variant Bloom syndrome [RCV000688420]|Hereditary cancer-predisposing syndrome [RCV002440434] Chr15:90790825 [GRCh38]
Chr15:91334055 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.99-9_99-7del microsatellite Bloom syndrome [RCV000688943] Chr15:90749355..90749357 [GRCh38]
Chr15:91292585..91292587 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu) single nucleotide variant Bloom syndrome [RCV000689409] Chr15:90760810 [GRCh38]
Chr15:91304040 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.376C>T (p.Pro126Ser) single nucleotide variant Bloom syndrome [RCV000690709]|Hereditary cancer-predisposing syndrome [RCV001021089] Chr15:90749644 [GRCh38]
Chr15:91292874 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) single nucleotide variant Bloom syndrome [RCV000691819]|Hereditary cancer-predisposing syndrome [RCV001020087] Chr15:90803522 [GRCh38]
Chr15:91346752 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met) single nucleotide variant Bloom syndrome [RCV000692961] Chr15:90790840 [GRCh38]
Chr15:91334070 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu) single nucleotide variant Bloom syndrome [RCV000693179]|Hereditary cancer-predisposing syndrome [RCV000708666]|not provided [RCV003478419]|not specified [RCV005056438] Chr15:90790692 [GRCh38]
Chr15:91333922 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr) single nucleotide variant Bloom syndrome [RCV000695718]|Hereditary cancer-predisposing syndrome [RCV002424659] Chr15:90784987 [GRCh38]
Chr15:91328217 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) insertion Bloom syndrome [RCV000696140] Chr15:90769178..90769179 [GRCh38]
Chr15:91312408..91312409 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3083A>G (p.His1028Arg) single nucleotide variant Bloom syndrome [RCV000697671] Chr15:90794230 [GRCh38]
Chr15:91337460 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) single nucleotide variant Bloom syndrome [RCV000701067]|Hereditary cancer-predisposing syndrome [RCV002352193]|not provided [RCV003322813] Chr15:90811205 [GRCh38]
Chr15:91354435 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) single nucleotide variant Bloom syndrome [RCV000701463]|Hereditary cancer-predisposing syndrome [RCV004026558] Chr15:90794314 [GRCh38]
Chr15:91337544 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser) single nucleotide variant Bloom syndrome [RCV000705118]|Hereditary cancer-predisposing syndrome [RCV001015884]|not provided [RCV003442053] Chr15:90769571 [GRCh38]
Chr15:91312801 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2726A>C (p.Gln909Pro) single nucleotide variant Bloom syndrome [RCV000705297]|Hereditary cancer-predisposing syndrome [RCV005298593] Chr15:90784984 [GRCh38]
Chr15:91328214 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.344C>T (p.Pro115Leu) single nucleotide variant Bloom syndrome [RCV000705357]|Hereditary cancer-predisposing syndrome [RCV001020328]|not provided [RCV003128655] Chr15:90749612 [GRCh38]
Chr15:91292842 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser) single nucleotide variant Bloom syndrome [RCV000706973] Chr15:90760841 [GRCh38]
Chr15:91304071 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90811195)_(90811416_?)del deletion Bloom syndrome [RCV000707798] Chr15:90811195..90811416 [GRCh38]
Chr15:91354425..91354646 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr) single nucleotide variant Bloom syndrome [RCV000709364]|Hereditary cancer-predisposing syndrome [RCV004026783] Chr15:90769528 [GRCh38]
Chr15:91312758 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) single nucleotide variant Bloom syndrome [RCV000709360] Chr15:90762971 [GRCh38]
Chr15:91306201 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1043dup (p.Met348fs) duplication Bloom syndrome [RCV000709358] Chr15:90754893..90754894 [GRCh38]
Chr15:91298123..91298124 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.615G>C (p.Lys205Asn) single nucleotide variant Bloom syndrome [RCV000709356]|Hereditary cancer-predisposing syndrome [RCV002352227] Chr15:90749883 [GRCh38]
Chr15:91293113 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.199G>A (p.Val67Ile) single nucleotide variant Bloom syndrome [RCV000709354]|Hereditary cancer-predisposing syndrome [RCV002422617] Chr15:90749467 [GRCh38]
Chr15:91292697 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp) single nucleotide variant Bloom syndrome [RCV000687150]|Hereditary cancer-predisposing syndrome [RCV001014176] Chr15:90763128 [GRCh38]
Chr15:91306358 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe) single nucleotide variant Bloom syndrome [RCV000691632]|Hereditary cancer-predisposing syndrome [RCV001010441] Chr15:90760601 [GRCh38]
Chr15:91303831 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys) single nucleotide variant Bloom syndrome [RCV000693463]|Hereditary cancer-predisposing syndrome [RCV002397404] Chr15:90754905 [GRCh38]
Chr15:91298135 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) deletion Bloom syndrome [RCV000694716]|Hereditary cancer-predisposing syndrome [RCV002440472] Chr15:90790673..90790679 [GRCh38]
Chr15:91333903..91333909 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2956A>G (p.Ile986Val) single nucleotide variant Bloom syndrome [RCV000699725] Chr15:90790781 [GRCh38]
Chr15:91334011 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.848C>G (p.Thr283Ser) single nucleotide variant Bloom syndrome [RCV000700387] Chr15:90751835 [GRCh38]
Chr15:91295065 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.362C>G (p.Thr121Ser) single nucleotide variant Bloom syndrome [RCV000702659] Chr15:90749630 [GRCh38]
Chr15:91292860 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2882T>C (p.Val961Ala) single nucleotide variant Bloom syndrome [RCV000703486] Chr15:90790707 [GRCh38]
Chr15:91333937 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg) single nucleotide variant Bloom syndrome [RCV000703491]|Hereditary cancer-predisposing syndrome [RCV002458298] Chr15:90804276 [GRCh38]
Chr15:91347506 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln) single nucleotide variant Bloom syndrome [RCV000707740]|Hereditary cancer-predisposing syndrome [RCV002397495] Chr15:90761145 [GRCh38]
Chr15:91304375 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90794157)_(90798347_?)del deletion Bloom syndrome [RCV000707999] Chr15:90794157..90798347 [GRCh38]
Chr15:91337387..91341577 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs) deletion Bloom syndrome [RCV000709367] Chr15:90782841..90782842 [GRCh38]
Chr15:91326071..91326072 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr) single nucleotide variant Bloom syndrome [RCV000709371]|Hereditary cancer-predisposing syndrome [RCV002352229]|not provided [RCV004783845] Chr15:90811346 [GRCh38]
Chr15:91354576 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2362C>G (p.Leu788Val) single nucleotide variant Bloom syndrome [RCV000709363] Chr15:90769187 [GRCh38]
Chr15:91312417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) single nucleotide variant Bloom syndrome [RCV000709362]|Hereditary cancer-predisposing syndrome [RCV004026782] Chr15:90766974 [GRCh38]
Chr15:91310204 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.532G>A (p.Val178Ile) single nucleotide variant Bloom syndrome [RCV000709355] Chr15:90749800 [GRCh38]
Chr15:91293030 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.955C>T (p.Leu319Phe) single nucleotide variant Bloom syndrome [RCV001205386]|Hereditary cancer-predisposing syndrome [RCV000708673] Chr15:90751942 [GRCh38]
Chr15:91295172 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu) single nucleotide variant Bloom syndrome [RCV000687149]|Hereditary cancer-predisposing syndrome [RCV003163111]|not provided [RCV005241392] Chr15:90760770 [GRCh38]
Chr15:91304000 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg) single nucleotide variant Bloom syndrome [RCV000689744]|Hereditary cancer-predisposing syndrome [RCV002458221] Chr15:90803682 [GRCh38]
Chr15:91346912 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.651A>C (p.Gln217His) single nucleotide variant Bloom syndrome [RCV000692452] Chr15:90749919 [GRCh38]
Chr15:91293149 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu) single nucleotide variant Bloom syndrome [RCV000693122]|Hereditary cancer-predisposing syndrome [RCV001022050]|not provided [RCV003442029] Chr15:90815230 [GRCh38]
Chr15:91358460 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2194-147G>A single nucleotide variant not provided [RCV001567434] Chr15:90766763 [GRCh38]
Chr15:91309993 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3946G>C (p.Asp1316His) single nucleotide variant Bloom syndrome [RCV001559217] Chr15:90811276 [GRCh38]
Chr15:91354506 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_000057.4(BLM):c.1536A>G (p.Gly512=) single nucleotide variant Bloom syndrome [RCV000871253]|Hereditary cancer-predisposing syndrome [RCV002255559] Chr15:90760909 [GRCh38]
Chr15:91304139 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2652G>A (p.Lys884=) single nucleotide variant Bloom syndrome [RCV001446673]|Hereditary cancer-predisposing syndrome [RCV004950106] Chr15:90782918 [GRCh38]
Chr15:91326148 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.345G>A (p.Pro115=) single nucleotide variant Bloom syndrome [RCV000871478]|Hereditary cancer-predisposing syndrome [RCV001020355] Chr15:90749613 [GRCh38]
Chr15:91292843 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3210+106_3210+107del deletion not provided [RCV001583172] Chr15:90794463..90794464 [GRCh38]
Chr15:91337693..91337694 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2103C>T (p.Leu701=) single nucleotide variant Bloom syndrome [RCV001464077] Chr15:90765324 [GRCh38]
Chr15:91308554 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-75G>A single nucleotide variant not provided [RCV001583707] Chr15:90765221 [GRCh38]
Chr15:91308451 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3210+209A>G single nucleotide variant not provided [RCV001647841] Chr15:90794566 [GRCh38]
Chr15:91337796 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.393C>T (p.Ser131=) single nucleotide variant Bloom syndrome [RCV002065936] Chr15:90749661 [GRCh38]
Chr15:91292891 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.*14A>G single nucleotide variant Bloom syndrome [RCV001559214] Chr15:90815293 [GRCh38]
Chr15:91358523 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.322T>C (p.Leu108=) single nucleotide variant Bloom syndrome [RCV001394975]|Hereditary cancer-predisposing syndrome [RCV002320138] Chr15:90749590 [GRCh38]
Chr15:91292820 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3211-60C>A single nucleotide variant not provided [RCV001569408] Chr15:90798130 [GRCh38]
Chr15:91341360 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3210+94C>T single nucleotide variant not provided [RCV001565327] Chr15:90794451 [GRCh38]
Chr15:91337681 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+146A>G single nucleotide variant not provided [RCV001611375] Chr15:90811552 [GRCh38]
Chr15:91354782 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.842del (p.His281fs) deletion Bloom syndrome [RCV001062839] Chr15:90751829 [GRCh38]
Chr15:91295059 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.719A>G (p.Asp240Gly) single nucleotide variant Bloom syndrome [RCV001034932]|Hereditary breast ovarian cancer syndrome [RCV001030682] Chr15:90749987 [GRCh38]
Chr15:91293217 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90747393)_(90815279_?)del deletion Bloom syndrome [RCV001033263] Chr15:91290623..91358509 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.373A>G (p.Thr125Ala) single nucleotide variant Bloom syndrome [RCV001064194] Chr15:90749641 [GRCh38]
Chr15:91292871 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2519A>C (p.Asp840Ala) single nucleotide variant Bloom syndrome [RCV001036091] Chr15:90769550 [GRCh38]
Chr15:91312780 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val) single nucleotide variant Bloom syndrome [RCV001038266]|Hereditary cancer-predisposing syndrome [RCV002454278]|not provided [RCV004809004] Chr15:90803548 [GRCh38]
Chr15:91346778 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.772C>A (p.Leu258Met) single nucleotide variant Bloom syndrome [RCV001038693]|Hereditary cancer-predisposing syndrome [RCV002400230] Chr15:90750040 [GRCh38]
Chr15:91293270 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys) single nucleotide variant Bloom syndrome [RCV001038709]|Hereditary cancer-predisposing syndrome [RCV004601332] Chr15:90804197 [GRCh38]
Chr15:91347427 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.292G>A (p.Glu98Lys) single nucleotide variant Bloom syndrome [RCV001039916]|Hereditary cancer-predisposing syndrome [RCV003160256] Chr15:90749560 [GRCh38]
Chr15:91292790 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3017T>C (p.Met1006Thr) single nucleotide variant Bloom syndrome [RCV001066482]|Hereditary cancer-predisposing syndrome [RCV004950234] Chr15:90790842 [GRCh38]
Chr15:91334072 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2321A>G (p.Asn774Ser) single nucleotide variant Bloom syndrome [RCV001066915] Chr15:90769146 [GRCh38]
Chr15:91312376 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3262G>T (p.Val1088Phe) single nucleotide variant Bloom syndrome [RCV001067063]|Hereditary cancer-predisposing syndrome [RCV004030639] Chr15:90798241 [GRCh38]
Chr15:91341471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.*142T>C single nucleotide variant Bloom syndrome [RCV001115700] Chr15:90815421 [GRCh38]
Chr15:91358651 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1107G>T (p.Gln369His) single nucleotide variant Bloom syndrome [RCV001040327] Chr15:90760166 [GRCh38]
Chr15:91303396 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1676A>G (p.Asp559Gly) single nucleotide variant Bloom syndrome [RCV001040380] Chr15:90761049 [GRCh38]
Chr15:91304279 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2983T>A (p.Tyr995Asn) single nucleotide variant Bloom syndrome [RCV001040797]|Hereditary cancer-predisposing syndrome [RCV002436546] Chr15:90790808 [GRCh38]
Chr15:91334038 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.811A>G (p.Lys271Glu) single nucleotide variant Bloom syndrome [RCV001041219] Chr15:90751798 [GRCh38]
Chr15:91295028 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3655C>G (p.Leu1219Val) single nucleotide variant Bloom syndrome [RCV001043457]|Hereditary cancer-predisposing syndrome [RCV002451167] Chr15:90804263 [GRCh38]
Chr15:91347493 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser) single nucleotide variant Bloom syndrome [RCV001047878]|Hereditary cancer-predisposing syndrome [RCV002355026] Chr15:90760273 [GRCh38]
Chr15:91303503 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr) single nucleotide variant Bloom syndrome [RCV001048913]|Hereditary cancer-predisposing syndrome [RCV004601343] Chr15:90804224 [GRCh38]
Chr15:91347454 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2773T>G (p.Ser925Ala) single nucleotide variant Bloom syndrome [RCV001050249] Chr15:90785031 [GRCh38]
Chr15:91328261 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly) single nucleotide variant Bloom syndrome [RCV001070344]|Hereditary cancer-predisposing syndrome [RCV004601355] Chr15:90804171 [GRCh38]
Chr15:91347401 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.592C>G (p.Leu198Val) single nucleotide variant Bloom syndrome [RCV001071147] Chr15:90749860 [GRCh38]
Chr15:91293090 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr) single nucleotide variant Bloom syndrome [RCV001053217]|Hereditary cancer-predisposing syndrome [RCV002409445]|not specified [RCV002249660] Chr15:90761213 [GRCh38]
Chr15:91304443 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) single nucleotide variant Bloom syndrome [RCV001055201]|Hereditary cancer-predisposing syndrome [RCV003363083] Chr15:90785059 [GRCh38]
Chr15:91328289 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.361A>C (p.Thr121Pro) single nucleotide variant Bloom syndrome [RCV001056563]|Hereditary cancer-predisposing syndrome [RCV002460129] Chr15:90749629 [GRCh38]
Chr15:91292859 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3572A>G (p.Glu1191Gly) single nucleotide variant Bloom syndrome [RCV001056836]|Hereditary cancer-predisposing syndrome [RCV002451231] Chr15:90804180 [GRCh38]
Chr15:91347410 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.960-2A>C single nucleotide variant Bloom syndrome [RCV001057874] Chr15:90754809 [GRCh38]
Chr15:91298039 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3909C>A (p.Ser1303Arg) single nucleotide variant Bloom syndrome [RCV001058629] Chr15:90811239 [GRCh38]
Chr15:91354469 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter) single nucleotide variant Bloom syndrome [RCV001059204]|Hereditary cancer-predisposing syndrome [RCV002451246] Chr15:90769440 [GRCh38]
Chr15:91312670 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2297C>A (p.Thr766Asn) single nucleotide variant Bloom syndrome [RCV005170695] Chr15:90767013 [GRCh38]
Chr15:91310243 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+80_2555+83dup duplication not provided [RCV001692826] Chr15:90769665..90769666 [GRCh38]
Chr15:91312895..91312896 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1883-252A>T single nucleotide variant not provided [RCV001583801] Chr15:90762714 [GRCh38]
Chr15:91305944 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+80C>T single nucleotide variant not provided [RCV001583807] Chr15:90769666 [GRCh38]
Chr15:91312896 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1398G>A (p.Gly466=) single nucleotide variant Bloom syndrome [RCV000922846]|Hereditary cancer-predisposing syndrome [RCV004029484] Chr15:90760771 [GRCh38]
Chr15:91304001 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2769T>C (p.Ser923=) single nucleotide variant Bloom syndrome [RCV000969712]|Hereditary cancer-predisposing syndrome [RCV003372922] Chr15:90785027 [GRCh38]
Chr15:91328257 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1833A>G (p.Ser611=) single nucleotide variant Bloom syndrome [RCV000951394]|Hereditary cancer-predisposing syndrome [RCV002409262] Chr15:90761206 [GRCh38]
Chr15:91304436 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1482C>T (p.Thr494=) single nucleotide variant Bloom syndrome [RCV000944883]|Hereditary cancer-predisposing syndrome [RCV005298658] Chr15:90760855 [GRCh38]
Chr15:91304085 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2994G>A (p.Val998=) single nucleotide variant BLM-related disorder [RCV004726718]|Bloom syndrome [RCV000877316] Chr15:90790819 [GRCh38]
Chr15:91334049 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+8G>A single nucleotide variant Bloom syndrome [RCV000865240] Chr15:90769594 [GRCh38]
Chr15:91312824 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1419C>G (p.Thr473=) single nucleotide variant Bloom syndrome [RCV001410770]|Hereditary cancer-predisposing syndrome [RCV002390774] Chr15:90760792 [GRCh38]
Chr15:91304022 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.909T>C (p.Pro303=) single nucleotide variant Bloom syndrome [RCV001493384]|Hereditary cancer-predisposing syndrome [RCV002372439] Chr15:90751896 [GRCh38]
Chr15:91295126 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1926G>A (p.Glu642=) single nucleotide variant Bloom syndrome [RCV000868468]|Hereditary cancer-predisposing syndrome [RCV001013732] Chr15:90763009 [GRCh38]
Chr15:91306239 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1188T>C (p.Cys396=) single nucleotide variant Bloom syndrome [RCV001448369] Chr15:90760247 [GRCh38]
Chr15:91303477 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2856G>A (p.Gly952=) single nucleotide variant Bloom syndrome [RCV000870035]|Hereditary cancer-predisposing syndrome [RCV002434109] Chr15:90790681 [GRCh38]
Chr15:91333911 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2598A>G (p.Val866=) single nucleotide variant Bloom syndrome [RCV001425979]|Hereditary cancer-predisposing syndrome [RCV001016053] Chr15:90782864 [GRCh38]
Chr15:91326094 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.504A>T (p.Ser168=) single nucleotide variant Bloom syndrome [RCV000950547]|Hereditary cancer-predisposing syndrome [RCV002336996] Chr15:90749772 [GRCh38]
Chr15:91293002 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2862C>T (p.Asp954=) single nucleotide variant Bloom syndrome [RCV000945319]|Hereditary cancer-predisposing syndrome [RCV002434307] Chr15:90790687 [GRCh38]
Chr15:91333917 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.558A>G (p.Ser186=) single nucleotide variant Bloom syndrome [RCV001398761]|Hereditary cancer-predisposing syndrome [RCV003307633] Chr15:90749826 [GRCh38]
Chr15:91293056 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3039T>C (p.His1013=) single nucleotide variant Bloom syndrome [RCV000936988]|Hereditary cancer-predisposing syndrome [RCV001018245] Chr15:90794186 [GRCh38]
Chr15:91337416 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2433C>T (p.Tyr811=) single nucleotide variant Bloom syndrome [RCV001423392]|Hereditary cancer-predisposing syndrome [RCV003169334] Chr15:90769464 [GRCh38]
Chr15:91312694 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1449G>A (p.Arg483=) single nucleotide variant Bloom syndrome [RCV000920459]|Hereditary cancer-predisposing syndrome [RCV004950052] Chr15:90760822 [GRCh38]
Chr15:91304052 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4215A>T (p.Ile1405=) single nucleotide variant Bloom syndrome [RCV001418934]|Hereditary cancer-predisposing syndrome [RCV002332940] Chr15:90815240 [GRCh38]
Chr15:91358470 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1209G>A (p.Gln403=) single nucleotide variant Bloom syndrome [RCV001444077] Chr15:90760268 [GRCh38]
Chr15:91303498 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.234C>T (p.Pro78=) single nucleotide variant Bloom syndrome [RCV001432274]|Hereditary cancer-predisposing syndrome [RCV003307655]|not specified [RCV003479236] Chr15:90749502 [GRCh38]
Chr15:91292732 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2316A>G (p.Ala772=) single nucleotide variant Bloom syndrome [RCV000928909]|Hereditary cancer-predisposing syndrome [RCV003346214] Chr15:90769141 [GRCh38]
Chr15:91312371 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.711C>T (p.Cys237=) single nucleotide variant Bloom syndrome [RCV000875602]|Hereditary cancer-predisposing syndrome [RCV001026063]|not specified [RCV001553610] Chr15:90749979 [GRCh38]
Chr15:91293209 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-6T>C single nucleotide variant Bloom syndrome [RCV000871200] Chr15:90762960 [GRCh38]
Chr15:91306190 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.456T>C (p.Asn152=) single nucleotide variant Bloom syndrome [RCV002539993]|Hereditary cancer-predisposing syndrome [RCV002336849] Chr15:90749724 [GRCh38]
Chr15:91292954 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4164G>T (p.Ala1388=) single nucleotide variant Bloom syndrome [RCV001412715]|Hereditary cancer-predisposing syndrome [RCV002327205] Chr15:90815189 [GRCh38]
Chr15:91358419 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3468T>C (p.Asp1156=) single nucleotide variant Bloom syndrome [RCV001401963]|Hereditary cancer-predisposing syndrome [RCV001020372] Chr15:90803630 [GRCh38]
Chr15:91346860 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1023T>G (p.Leu341=) single nucleotide variant Bloom syndrome [RCV000883016] Chr15:90754874 [GRCh38]
Chr15:91298104 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2775T>C (p.Ser925=) single nucleotide variant Bloom syndrome [RCV000960402]|Hereditary cancer-predisposing syndrome [RCV003169477] Chr15:90785033 [GRCh38]
Chr15:91328263 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.672G>A (p.Gln224=) single nucleotide variant Bloom syndrome [RCV000983550]|Hereditary cancer-predisposing syndrome [RCV003346242] Chr15:90749940 [GRCh38]
Chr15:91293170 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.345G>C (p.Pro115=) single nucleotide variant Bloom syndrome [RCV000878332]|Hereditary cancer-predisposing syndrome [RCV004027904] Chr15:90749613 [GRCh38]
Chr15:91292843 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3759A>G (p.Leu1253=) single nucleotide variant Bloom syndrome [RCV001486198] Chr15:90809144 [GRCh38]
Chr15:91352374 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser) single nucleotide variant Bloom syndrome [RCV001275699]|Hereditary cancer-predisposing syndrome [RCV001020589] Chr15:90803713 [GRCh38]
Chr15:91346943 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3564del (p.Phe1189fs) deletion Bloom syndrome [RCV002549519]|Hereditary cancer-predisposing syndrome [RCV001020616] Chr15:90804172 [GRCh38]
Chr15:91347402 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.963G>A (p.Thr321=) single nucleotide variant Bloom syndrome [RCV000989380]|Hereditary cancer-predisposing syndrome [RCV002372710] Chr15:90754814 [GRCh38]
Chr15:91298044 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-40T>C single nucleotide variant Bloom syndrome [RCV000989381] Chr15:90760107 [GRCh38]
Chr15:91303337 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-39C>T single nucleotide variant Bloom syndrome [RCV000989382] Chr15:90760108 [GRCh38]
Chr15:91303338 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-38C>T single nucleotide variant Bloom syndrome [RCV000989383] Chr15:90760109 [GRCh38]
Chr15:91303339 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-35C>T single nucleotide variant Bloom syndrome [RCV000989384] Chr15:90760112 [GRCh38]
Chr15:91303342 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp) single nucleotide variant Bloom syndrome [RCV000989385] Chr15:90760256 [GRCh38]
Chr15:91303486 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala) single nucleotide variant Bloom syndrome [RCV000989386]|Hereditary cancer-predisposing syndrome [RCV002391048]|not provided [RCV004997550] Chr15:90760790 [GRCh38]
Chr15:91304020 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) single nucleotide variant Bloom syndrome [RCV000989387]|Hereditary cancer-predisposing syndrome [RCV002416269] Chr15:90763088 [GRCh38]
Chr15:91306318 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2074+56G>A single nucleotide variant Bloom syndrome [RCV000989388] Chr15:90763213 [GRCh38]
Chr15:91306443 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2207_2209del (p.Tyr736del) deletion Bloom syndrome [RCV000989389] Chr15:90766923..90766925 [GRCh38]
Chr15:91310153..91310155 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs) insertion Bloom syndrome [RCV000989390] Chr15:90766926..90766927 [GRCh38]
Chr15:91310156..91310157 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro) insertion Bloom syndrome [RCV000989391] Chr15:90766928..90766929 [GRCh38]
Chr15:91310158..91310159 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2268del (p.Asp757fs) deletion Bloom syndrome [RCV000989392]|Hereditary cancer-predisposing syndrome [RCV001014986] Chr15:90766978 [GRCh38]
Chr15:91310208 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3019+17T>C single nucleotide variant Bloom syndrome [RCV000989395] Chr15:90790861 [GRCh38]
Chr15:91334091 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) single nucleotide variant Bloom syndrome [RCV000989396]|Hereditary cancer-predisposing syndrome [RCV002320201]|not provided [RCV003478602] Chr15:90794311 [GRCh38]
Chr15:91337541 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3875-6T>C single nucleotide variant Bloom syndrome [RCV000989399] Chr15:90811199 [GRCh38]
Chr15:91354429 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2611C>T (p.Pro871Ser) single nucleotide variant not provided [RCV000995425] Chr15:90782877 [GRCh38]
Chr15:91326107 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3607G>A (p.Ala1203Thr) single nucleotide variant Bloom syndrome [RCV005093200]|Hereditary cancer-predisposing syndrome [RCV001020710] Chr15:90804215 [GRCh38]
Chr15:91347445 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys) single nucleotide variant Bloom syndrome [RCV001836066]|Hereditary cancer-predisposing syndrome [RCV001020838] Chr15:90804276 [GRCh38]
Chr15:91347506 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu) indel Bloom syndrome [RCV003316913] Chr15:90782869..90782871 [GRCh38]
Chr15:91326099..91326101 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.914C>G (p.Pro305Arg) single nucleotide variant Bloom syndrome [RCV001832343]|Hereditary cancer-predisposing syndrome [RCV001018915] Chr15:90751901 [GRCh38]
Chr15:91295131 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) single nucleotide variant Bloom syndrome [RCV000779836]|Hereditary cancer-predisposing syndrome [RCV002442599] Chr15:90760149 [GRCh38]
Chr15:91303379 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2824-1066del deletion not specified [RCV000779837] Chr15:90789583 [GRCh38]
Chr15:91332813 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) single nucleotide variant Bloom syndrome [RCV000868903]|Hereditary cancer-predisposing syndrome [RCV001020662]|not specified [RCV000780962] Chr15:90804193 [GRCh38]
Chr15:91347423 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2193+1G>A single nucleotide variant Bloom syndrome [RCV000855680]|Hereditary cancer-predisposing syndrome [RCV001014688] Chr15:90765415 [GRCh38]
Chr15:91308645 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1		 pathogenic
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly) single nucleotide variant Bloom syndrome [RCV000809544]|Hereditary cancer-predisposing syndrome [RCV002453827] Chr15:90782913 [GRCh38]
Chr15:91326143 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp) single nucleotide variant Bloom syndrome [RCV000793119]|Hereditary cancer-predisposing syndrome [RCV002406728] Chr15:90761194 [GRCh38]
Chr15:91304424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2235A>G (p.Glu745=) single nucleotide variant Bloom syndrome [RCV000873288]|Hereditary cancer-predisposing syndrome [RCV002427191] Chr15:90766951 [GRCh38]
Chr15:91310181 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4200T>C (p.Ala1400=) single nucleotide variant Bloom syndrome [RCV001411803] Chr15:90815225 [GRCh38]
Chr15:91358455 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3870G>A (p.Ser1290=) single nucleotide variant Bloom syndrome [RCV000926660]|Hereditary cancer-predisposing syndrome [RCV002363389] Chr15:90809255 [GRCh38]
Chr15:91352485 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2646C>T (p.Ile882=) single nucleotide variant Bloom syndrome [RCV000977444] Chr15:90782912 [GRCh38]
Chr15:91326142 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4029A>G (p.Gln1343=) single nucleotide variant Bloom syndrome [RCV000979117]|Hereditary cancer-predisposing syndrome [RCV002354877] Chr15:90811359 [GRCh38]
Chr15:91354589 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-6A>G single nucleotide variant Bloom syndrome [RCV000869047]|not provided [RCV003478541] Chr15:90766904 [GRCh38]
Chr15:91310134 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1347T>C (p.Ser449=) single nucleotide variant Bloom syndrome [RCV000933172] Chr15:90760720 [GRCh38]
Chr15:91303950 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) single nucleotide variant Bloom syndrome [RCV000871824]|Hereditary cancer-predisposing syndrome [RCV002372466] Chr15:90811263 [GRCh38]
Chr15:91354493 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1854C>T (p.Asn618=) single nucleotide variant Bloom syndrome [RCV000977754] Chr15:90761227 [GRCh38]
Chr15:91304457 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4209G>A (p.Lys1403=) single nucleotide variant Bloom syndrome [RCV001435817]|Hereditary cancer-predisposing syndrome [RCV002332845]|not specified [RCV001817038] Chr15:90815234 [GRCh38]
Chr15:91358464 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+8C>T single nucleotide variant Bloom syndrome [RCV000864333] Chr15:90804367 [GRCh38]
Chr15:91347597 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4128C>T (p.Ile1376=) single nucleotide variant Bloom syndrome [RCV000874199]|Hereditary cancer-predisposing syndrome [RCV002332837] Chr15:90815153 [GRCh38]
Chr15:91358383 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2169A>G (p.Gln723=) single nucleotide variant Bloom syndrome [RCV001279095]|Hereditary cancer-predisposing syndrome [RCV002427206] Chr15:90765390 [GRCh38]
Chr15:91308620 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2407-6A>G single nucleotide variant Bloom syndrome [RCV000871244] Chr15:90769432 [GRCh38]
Chr15:91312662 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.906A>G (p.Pro302=) single nucleotide variant not provided [RCV000897276] Chr15:90751893 [GRCh38]
Chr15:91295123 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2211G>T (p.Leu737=) single nucleotide variant Bloom syndrome [RCV000982571] Chr15:90766927 [GRCh38]
Chr15:91310157 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.540A>T (p.Val180=) single nucleotide variant Bloom syndrome [RCV001451540]|Hereditary cancer-predisposing syndrome [RCV005298635] Chr15:90749808 [GRCh38]
Chr15:91293038 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.81T>C (p.Leu27=) single nucleotide variant not provided [RCV000982681] Chr15:90747473 [GRCh38]
Chr15:91290703 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3546T>C (p.Asn1182=) single nucleotide variant Bloom syndrome [RCV001440743]|Hereditary cancer-predisposing syndrome [RCV002454004] Chr15:90803708 [GRCh38]
Chr15:91346938 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3135T>C (p.Phe1045=) single nucleotide variant Bloom syndrome [RCV001421683] Chr15:90794282 [GRCh38]
Chr15:91337512 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3180T>C (p.Asp1060=) single nucleotide variant Bloom syndrome [RCV000870328]|Hereditary cancer-predisposing syndrome [RCV001019022] Chr15:90794327 [GRCh38]
Chr15:91337557 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3504C>T (p.Ile1168=) single nucleotide variant Bloom syndrome [RCV000873982]|Hereditary cancer-predisposing syndrome [RCV002336841] Chr15:90803666 [GRCh38]
Chr15:91346896 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.564G>A (p.Lys188=) single nucleotide variant Bloom syndrome [RCV001422532] Chr15:90749832 [GRCh38]
Chr15:91293062 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-5T>C single nucleotide variant Bloom syndrome [RCV002066497] Chr15:90751782 [GRCh38]
Chr15:91295012 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1011A>T (p.Thr337=) single nucleotide variant Bloom syndrome [RCV001451675] Chr15:90754862 [GRCh38]
Chr15:91298092 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2280A>C (p.Ile760=) single nucleotide variant Bloom syndrome [RCV001460919]|Hereditary cancer-predisposing syndrome [RCV002445094] Chr15:90766996 [GRCh38]
Chr15:91310226 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.768C>T (p.Asp256=) single nucleotide variant Bloom syndrome [RCV000875727]|Hereditary cancer-predisposing syndrome [RCV005298639] Chr15:90750036 [GRCh38]
Chr15:91293266 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1992C>G (p.Gly664=) single nucleotide variant Bloom syndrome [RCV000875786]|Hereditary cancer-predisposing syndrome [RCV002416074]|not provided [RCV003392666] Chr15:90763075 [GRCh38]
Chr15:91306305 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1497C>T (p.Ser499=) single nucleotide variant Bloom syndrome [RCV000918940]|Hereditary cancer-predisposing syndrome [RCV002390914] Chr15:90760870 [GRCh38]
Chr15:91304100 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-6C>T single nucleotide variant Bloom syndrome [RCV001424342] Chr15:90760588 [GRCh38]
Chr15:91303818 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+7_2555+8inv inversion Bloom syndrome [RCV001414353] Chr15:90769593..90769594 [GRCh38]
Chr15:91312823..91312824 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2244T>C (p.Asn748=) single nucleotide variant Bloom syndrome [RCV000873477]|Hereditary cancer-predisposing syndrome [RCV004027829] Chr15:90766960 [GRCh38]
Chr15:91310190 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3345C>T (p.Val1115=) single nucleotide variant Bloom syndrome [RCV001436737]|Hereditary cancer-predisposing syndrome [RCV002320166] Chr15:90798324 [GRCh38]
Chr15:91341554 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2655C>T (p.His885=) single nucleotide variant Bloom syndrome [RCV001479062]|Hereditary cancer-predisposing syndrome [RCV001016225]|not provided [RCV003478558] Chr15:90782921 [GRCh38]
Chr15:91326151 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959+7T>C single nucleotide variant Bloom syndrome [RCV000869533] Chr15:90751953 [GRCh38]
Chr15:91295183 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser) single nucleotide variant Bloom syndrome [RCV000802451]|Hereditary cancer-predisposing syndrome [RCV002360956] Chr15:90760594 [GRCh38]
Chr15:91303824 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn) single nucleotide variant Bloom syndrome [RCV000822474]|Hereditary cancer-predisposing syndrome [RCV002390699]|not provided [RCV002462188] Chr15:90754883 [GRCh38]
Chr15:91298113 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu) single nucleotide variant Bloom syndrome [RCV000812879]|Hereditary cancer-predisposing syndrome [RCV004601287]|not provided [RCV004997370] Chr15:90790748 [GRCh38]
Chr15:91333978 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly) single nucleotide variant Bloom syndrome [RCV000804403]|Hereditary cancer-predisposing syndrome [RCV001012506] Chr15:90761006 [GRCh38]
Chr15:91304236 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser) single nucleotide variant Bloom syndrome [RCV000810244]|Hereditary cancer-predisposing syndrome [RCV004949963] Chr15:90761147 [GRCh38]
Chr15:91304377 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly) single nucleotide variant Bloom syndrome [RCV000799283] Chr15:90769209 [GRCh38]
Chr15:91312439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3324A>T (p.Arg1108Ser) single nucleotide variant Bloom syndrome [RCV000802777] Chr15:90798303 [GRCh38]
Chr15:91341533 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.922A>G (p.Ile308Val) single nucleotide variant Bloom syndrome [RCV001303282]|Hereditary cancer-predisposing syndrome [RCV001019034] Chr15:90751909 [GRCh38]
Chr15:91295139 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.655G>C (p.Asp219His) single nucleotide variant Bloom syndrome [RCV000799370]|Hereditary cancer-predisposing syndrome [RCV001025413] Chr15:90749923 [GRCh38]
Chr15:91293153 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser) single nucleotide variant Bloom syndrome [RCV000823135] Chr15:90803686 [GRCh38]
Chr15:91346916 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr) single nucleotide variant Bloom syndrome [RCV000814355]|Hereditary cancer-predisposing syndrome [RCV002325596] Chr15:90794301 [GRCh38]
Chr15:91337531 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu) single nucleotide variant Bloom syndrome [RCV000801177]|Hereditary cancer-predisposing syndrome [RCV004949930] Chr15:90803604 [GRCh38]
Chr15:91346834 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3331A>G (p.Met1111Val) single nucleotide variant Bloom syndrome [RCV000798345]|Hereditary cancer-predisposing syndrome [RCV002325527] Chr15:90798310 [GRCh38]
Chr15:91341540 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu) single nucleotide variant Bloom syndrome [RCV000797357]|Hereditary cancer-predisposing syndrome [RCV002442639] Chr15:90769484 [GRCh38]
Chr15:91312714 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.980C>G (p.Thr327Ser) single nucleotide variant Bloom syndrome [RCV000799667]|not provided [RCV004997340] Chr15:90754831 [GRCh38]
Chr15:91298061 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.604_607del (p.Asn202fs) microsatellite Bloom syndrome [RCV000819448]|Hereditary cancer-predisposing syndrome [RCV002352448] Chr15:90749868..90749871 [GRCh38]
Chr15:91293098..91293101 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter) single nucleotide variant Bloom syndrome [RCV000823524] Chr15:90760919 [GRCh38]
Chr15:91304149 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu) single nucleotide variant Bloom syndrome [RCV000823575]|Hereditary cancer-predisposing syndrome [RCV002397735] Chr15:90761081 [GRCh38]
Chr15:91304311 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser) single nucleotide variant Bloom syndrome [RCV000823757] Chr15:90766940 [GRCh38]
Chr15:91310170 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp) single nucleotide variant Bloom syndrome [RCV000815041]|Hereditary cancer-predisposing syndrome [RCV001021993]|not provided [RCV003324800] Chr15:90815202 [GRCh38]
Chr15:91358432 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1018G>C (p.Asp340His) single nucleotide variant Bloom syndrome [RCV000797455] Chr15:90754869 [GRCh38]
Chr15:91298099 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556-8T>A single nucleotide variant Bloom syndrome [RCV000819550] Chr15:90782814 [GRCh38]
Chr15:91326044 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90747383)_(90765424_?)del deletion Bloom syndrome [RCV000815271] Chr15:90747383..90765424 [GRCh38]
Chr15:91290613..91308654 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys) single nucleotide variant Bloom syndrome [RCV000805052] Chr15:90782909 [GRCh38]
Chr15:91326139 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91290613)_(91298178_?)dup duplication Bloom syndrome [RCV000800038] Chr15:90747383..90754948 [GRCh38]
Chr15:91290613..91298178 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.455A>G (p.Asn152Ser) single nucleotide variant Bloom syndrome [RCV000806813]|Hereditary cancer-predisposing syndrome [RCV002336643] Chr15:90749723 [GRCh38]
Chr15:91292953 [GRCh37]
Chr15:15q26.1		 benign|likely benign|uncertain significance
NM_000057.4(BLM):c.2532G>T (p.Gln844His) single nucleotide variant Bloom syndrome [RCV000816428]|Hereditary cancer-predisposing syndrome [RCV002453858] Chr15:90769563 [GRCh38]
Chr15:91312793 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys) single nucleotide variant Bloom syndrome [RCV000821644]|Hereditary cancer-predisposing syndrome [RCV001018840] Chr15:90794300 [GRCh38]
Chr15:91337530 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3216T>C (p.Tyr1072=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019292] Chr15:90798195 [GRCh38]
Chr15:91341425 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys) single nucleotide variant Bloom syndrome [RCV000803505]|Hereditary cancer-predisposing syndrome [RCV001019310] Chr15:90798203 [GRCh38]
Chr15:91341433 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.214T>G (p.Ser72Ala) single nucleotide variant Bloom syndrome [RCV000824589]|Hereditary cancer-predisposing syndrome [RCV001014601] Chr15:90749482 [GRCh38]
Chr15:91292712 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn) single nucleotide variant Bloom syndrome [RCV000803622]|Hereditary cancer-predisposing syndrome [RCV002388501] Chr15:90760788 [GRCh38]
Chr15:91304018 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys) single nucleotide variant Bloom syndrome [RCV000821773]|Hereditary cancer-predisposing syndrome [RCV002415935] Chr15:90766923 [GRCh38]
Chr15:91310153 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220+5C>G single nucleotide variant Bloom syndrome [RCV000798593]|Hereditary cancer-predisposing syndrome [RCV002352340] Chr15:90760284 [GRCh38]
Chr15:91303514 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1594G>C (p.Asp532His) single nucleotide variant Bloom syndrome [RCV000802020] Chr15:90760967 [GRCh38]
Chr15:91304197 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu) single nucleotide variant Bloom syndrome [RCV000803695]|Hereditary cancer-predisposing syndrome [RCV002440698] Chr15:90790668 [GRCh38]
Chr15:91333898 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2915G>T (p.Gly972Val) single nucleotide variant Bloom syndrome [RCV000820182]|Hereditary cancer-predisposing syndrome [RCV001016923] Chr15:90790740 [GRCh38]
Chr15:91333970 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu) single nucleotide variant Bloom syndrome [RCV000798836] Chr15:90754915 [GRCh38]
Chr15:91298145 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.353T>C (p.Val118Ala) single nucleotide variant Bloom syndrome [RCV000798838]|Hereditary cancer-predisposing syndrome [RCV002458446]|not provided [RCV004997337] Chr15:90749621 [GRCh38]
Chr15:91292851 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.882T>C (p.Asp294=) single nucleotide variant Bloom syndrome [RCV000937599]|Hereditary cancer-predisposing syndrome [RCV002256618] Chr15:90751869 [GRCh38]
Chr15:91295099 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro) single nucleotide variant Bloom syndrome [RCV000796360]|Hereditary cancer-predisposing syndrome [RCV003166139] Chr15:90815187 [GRCh38]
Chr15:91358417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe) single nucleotide variant Bloom syndrome [RCV000795365] Chr15:90760926 [GRCh38]
Chr15:91304156 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.416T>C (p.Leu139Ser) single nucleotide variant Bloom syndrome [RCV000804042] Chr15:90749684 [GRCh38]
Chr15:91292914 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.129A>G (p.Ser43=) single nucleotide variant BLM-related disorder [RCV003895311]|Bloom syndrome [RCV000870085]|Hereditary cancer-predisposing syndrome [RCV001010588] Chr15:90749397 [GRCh38]
Chr15:91292627 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.394C>T (p.Arg132Trp) single nucleotide variant Bloom syndrome [RCV000800577]|Hereditary cancer-predisposing syndrome [RCV001021498]|not provided [RCV003478499] Chr15:90749662 [GRCh38]
Chr15:91292892 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys) single nucleotide variant Bloom syndrome [RCV000820490]|Hereditary cancer-predisposing syndrome [RCV002255541] Chr15:90761003 [GRCh38]
Chr15:91304233 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg) single nucleotide variant Bloom syndrome [RCV000792387]|Hereditary cancer-predisposing syndrome [RCV005306147] Chr15:90815115 [GRCh38]
Chr15:91358345 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1657A>G (p.Ile553Val) single nucleotide variant Bloom syndrome [RCV000792999]|Hereditary cancer-predisposing syndrome [RCV002397572] Chr15:90761030 [GRCh38]
Chr15:91304260 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.485C>T (p.Thr162Ile) single nucleotide variant Bloom syndrome [RCV000799146]|Hereditary cancer-predisposing syndrome [RCV002256514] Chr15:90749753 [GRCh38]
Chr15:91292983 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala) single nucleotide variant Bloom syndrome [RCV000800717]|Hereditary cancer-predisposing syndrome [RCV003344057] Chr15:90766928 [GRCh38]
Chr15:91310158 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly) single nucleotide variant Bloom syndrome [RCV000804167]|Hereditary cancer-predisposing syndrome [RCV002453784] Chr15:90803533 [GRCh38]
Chr15:91346763 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu) single nucleotide variant Bloom syndrome [RCV000813363]|Hereditary cancer-predisposing syndrome [RCV001022083] Chr15:90815248 [GRCh38]
Chr15:91358478 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3875-5T>C single nucleotide variant Bloom syndrome [RCV000808955] Chr15:90811200 [GRCh38]
Chr15:91354430 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.17A>C (p.Gln6Pro) single nucleotide variant Bloom syndrome [RCV000803339] Chr15:90747409 [GRCh38]
Chr15:91290639 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2393A>T (p.His798Leu) single nucleotide variant Bloom syndrome [RCV000799888] Chr15:90769218 [GRCh38]
Chr15:91312448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+6T>C single nucleotide variant Bloom syndrome [RCV000800352] Chr15:90769592 [GRCh38]
Chr15:91312822 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.709del (p.Cys237fs) deletion Bloom syndrome [RCV000822653]|Hereditary cancer-predisposing syndrome [RCV002363170]|not provided [RCV004569775] Chr15:90749975 [GRCh38]
Chr15:91293205 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu) single nucleotide variant Bloom syndrome [RCV000796643]|Hereditary cancer-predisposing syndrome [RCV001021582] Chr15:90811315 [GRCh38]
Chr15:91354545 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys) single nucleotide variant Bloom syndrome [RCV000816519]|Hereditary cancer-predisposing syndrome [RCV002325606] Chr15:90798276 [GRCh38]
Chr15:91341506 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met) single nucleotide variant Bloom syndrome [RCV000800546] Chr15:90811227 [GRCh38]
Chr15:91354457 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3774G>A (p.Glu1258=) single nucleotide variant Bloom syndrome [RCV000806801]|Hereditary cancer-predisposing syndrome [RCV004028259] Chr15:90809159 [GRCh38]
Chr15:91352389 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
GRCh37/hg19 15q26.1(chr15:91243790-91403844)x1 copy number loss not provided [RCV000846540] Chr15:91243790..91403844 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile) single nucleotide variant Bloom syndrome [RCV000820877]|Hereditary cancer-predisposing syndrome [RCV002390693] Chr15:90760791 [GRCh38]
Chr15:91304021 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr) single nucleotide variant Bloom syndrome [RCV000820881]|Hereditary cancer-predisposing syndrome [RCV002453883] Chr15:90803527 [GRCh38]
Chr15:91346757 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2113G>C (p.Val705Leu) single nucleotide variant Bloom syndrome [RCV000820883] Chr15:90765334 [GRCh38]
Chr15:91308564 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu) single nucleotide variant Bloom syndrome [RCV000823664]|Hereditary cancer-predisposing syndrome [RCV002336724] Chr15:90754866 [GRCh38]
Chr15:91298096 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1 copy number loss not provided [RCV000847986] Chr15:91229877..93677014 [GRCh37]
Chr15:15q26.1		 pathogenic
GRCh37/hg19 15q26.1(chr15:91276782-91550953)x1 copy number loss not provided [RCV000849368] Chr15:91276782..91550953 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn) single nucleotide variant Bloom syndrome [RCV000821243]|Hereditary cancer-predisposing syndrome [RCV002442756] Chr15:90769491 [GRCh38]
Chr15:91312721 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1387G>A (p.Val463Ile) single nucleotide variant Bloom syndrome [RCV000814390]|Hereditary cancer-predisposing syndrome [RCV001011214] Chr15:90760760 [GRCh38]
Chr15:91303990 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3020-7_3020-5del deletion Bloom syndrome [RCV000801873] Chr15:90794159..90794161 [GRCh38]
Chr15:91337389..91337391 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys) single nucleotide variant Bloom syndrome [RCV000821905]|Hereditary cancer-predisposing syndrome [RCV001013585] Chr15:90762990 [GRCh38]
Chr15:91306220 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu) single nucleotide variant Bloom syndrome [RCV000795273]|Hereditary cancer-predisposing syndrome [RCV002325511] Chr15:90811406 [GRCh38]
Chr15:91354636 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.470T>C (p.Met157Thr) single nucleotide variant Bloom syndrome [RCV000809366]|Hereditary cancer-predisposing syndrome [RCV002336659]|not provided [RCV004721628] Chr15:90749738 [GRCh38]
Chr15:91292968 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.172C>A (p.Pro58Thr) single nucleotide variant Bloom syndrome [RCV000792917]|Hereditary cancer-predisposing syndrome [RCV001012877] Chr15:90749440 [GRCh38]
Chr15:91292670 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) single nucleotide variant Bloom syndrome [RCV000809430]|Hereditary cancer-predisposing syndrome [RCV002255532]|not provided [RCV003311895] Chr15:90803658 [GRCh38]
Chr15:91346888 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.64A>G (p.Asn22Asp) single nucleotide variant Bloom syndrome [RCV000819153]|Hereditary cancer-predisposing syndrome [RCV001025340] Chr15:90747456 [GRCh38]
Chr15:91290686 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr) single nucleotide variant Bloom syndrome [RCV001873338]|Hereditary cancer-predisposing syndrome [RCV001020793] Chr15:90804255 [GRCh38]
Chr15:91347485 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1334C>T (p.Pro445Leu) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030452]|Hereditary cancer-predisposing syndrome [RCV004950118] Chr15:90760707 [GRCh38]
Chr15:91303937 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90782812)_(90968837_?)dup duplication Bloom syndrome [RCV001033731] Chr15:91326042..91512067 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2427A>G (p.Gln809=) single nucleotide variant Bloom syndrome [RCV001053214]|Hereditary cancer-predisposing syndrome [RCV002451220] Chr15:90769458 [GRCh38]
Chr15:91312688 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4017G>C (p.Met1339Ile) single nucleotide variant Bloom syndrome [RCV001036206]|Hereditary cancer-predisposing syndrome [RCV002354977] Chr15:90811347 [GRCh38]
Chr15:91354577 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.375_376del (p.Pro126fs) microsatellite Bloom syndrome [RCV001036285] Chr15:90749639..90749640 [GRCh38]
Chr15:91292869..91292870 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.324G>T (p.Leu108Phe) single nucleotide variant Bloom syndrome [RCV001059295]|not provided [RCV004998623] Chr15:90749592 [GRCh38]
Chr15:91292822 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3472G>C (p.Asp1158His) single nucleotide variant Bloom syndrome [RCV001062351]|Hereditary cancer-predisposing syndrome [RCV004030451] Chr15:90803634 [GRCh38]
Chr15:91346864 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.490G>C (p.Glu164Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023252] Chr15:90749758 [GRCh38]
Chr15:91292988 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2205A>G (p.Thr735=) single nucleotide variant Bloom syndrome [RCV001039295]|Hereditary cancer-predisposing syndrome [RCV002427494] Chr15:90766921 [GRCh38]
Chr15:91310151 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val) single nucleotide variant Bloom syndrome [RCV001039717]|Hereditary cancer-predisposing syndrome [RCV004601333]|not provided [RCV004822289] Chr15:90809188 [GRCh38]
Chr15:91352418 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2087G>A (p.Ser696Asn) single nucleotide variant Bloom syndrome [RCV001040673]|Hereditary cancer-predisposing syndrome [RCV002416347] Chr15:90765308 [GRCh38]
Chr15:91308538 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.667G>A (p.Glu223Lys) single nucleotide variant Bloom syndrome [RCV001063035] Chr15:90749935 [GRCh38]
Chr15:91293165 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.796A>G (p.Arg266Gly) single nucleotide variant Bloom syndrome [RCV001066738]|Hereditary cancer-predisposing syndrome [RCV004950237]|not specified [RCV001800952] Chr15:90750064 [GRCh38]
Chr15:91293294 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2372G>A (p.Arg791His) single nucleotide variant Bloom syndrome [RCV000812135]|Hereditary cancer-predisposing syndrome [RCV001015337] Chr15:90769197 [GRCh38]
Chr15:91312427 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2921A>C (p.Tyr974Ser) single nucleotide variant Bloom syndrome [RCV001045833] Chr15:90790746 [GRCh38]
Chr15:91333976 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1039A>G (p.Lys347Glu) single nucleotide variant Bloom syndrome [RCV001068025] Chr15:90754890 [GRCh38]
Chr15:91298120 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.413A>G (p.Lys138Arg) single nucleotide variant Bloom syndrome [RCV001068587]|Hereditary cancer-predisposing syndrome [RCV004950248] Chr15:90749681 [GRCh38]
Chr15:91292911 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr) single nucleotide variant Bloom syndrome [RCV001070453] Chr15:90803712 [GRCh38]
Chr15:91346942 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.164C>T (p.Ala55Val) single nucleotide variant Bloom syndrome [RCV001072029] Chr15:90749432 [GRCh38]
Chr15:91292662 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3020-15C>T single nucleotide variant Bloom syndrome [RCV001115612]|Hereditary cancer-predisposing syndrome [RCV005251250] Chr15:90794152 [GRCh38]
Chr15:91337382 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser) single nucleotide variant Bloom syndrome [RCV000810631] Chr15:90769193 [GRCh38]
Chr15:91312423 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3517C>T (p.Leu1173Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020496] Chr15:90803679 [GRCh38]
Chr15:91346909 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg) single nucleotide variant Bloom syndrome [RCV000791537] Chr15:90811367 [GRCh38]
Chr15:91354597 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2650_2651del (p.Lys884fs) deletion Bloom syndrome [RCV001007656] Chr15:90782915..90782916 [GRCh38]
Chr15:91326145..91326146 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu) single nucleotide variant Bloom syndrome [RCV000811168]|Hereditary cancer-predisposing syndrome [RCV002422787] Chr15:90765344 [GRCh38]
Chr15:91308574 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His) single nucleotide variant Bloom syndrome [RCV000798331]|Hereditary cancer-predisposing syndrome [RCV002334500]|not provided [RCV005411567] Chr15:90803640 [GRCh38]
Chr15:91346870 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr) single nucleotide variant Bloom syndrome [RCV000818087]|Hereditary cancer-predisposing syndrome [RCV002352442] Chr15:90811288 [GRCh38]
Chr15:91354518 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys) single nucleotide variant Bloom syndrome [RCV000804819]|Hereditary cancer-predisposing syndrome [RCV002325561]|not provided [RCV005231355] Chr15:90798272 [GRCh38]
Chr15:91341502 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.822T>C (p.Asn274=) single nucleotide variant Bloom syndrome [RCV001496194]|Hereditary cancer-predisposing syndrome [RCV002409089] Chr15:90751809 [GRCh38]
Chr15:91295039 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.820A>G (p.Asn274Asp) single nucleotide variant Bloom syndrome [RCV000793913]|Hereditary cancer-predisposing syndrome [RCV002424800]|not provided [RCV003226978] Chr15:90751807 [GRCh38]
Chr15:91295037 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.563A>G (p.Lys188Arg) single nucleotide variant BLM-related disorder [RCV003947988]|Bloom syndrome [RCV000798525]|Hereditary cancer-predisposing syndrome [RCV002345774] Chr15:90749831 [GRCh38]
Chr15:91293061 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu) indel Bloom syndrome [RCV000818242] Chr15:90803545..90803546 [GRCh38]
Chr15:91346775..91346776 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1676A>T (p.Asp559Val) single nucleotide variant Bloom syndrome [RCV000807217]|Hereditary cancer-predisposing syndrome [RCV001012611] Chr15:90761049 [GRCh38]
Chr15:91304279 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.335T>C (p.Leu112Ser) single nucleotide variant Bloom syndrome [RCV000801940]|Hereditary cancer-predisposing syndrome [RCV002325542]|not provided [RCV003478501] Chr15:90749603 [GRCh38]
Chr15:91292833 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2872G>A (p.Val958Met) single nucleotide variant Bloom syndrome [RCV000805418]|Hereditary cancer-predisposing syndrome [RCV001016865]|not provided [RCV001724159] Chr15:90790697 [GRCh38]
Chr15:91333927 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn) single nucleotide variant Bloom syndrome [RCV000798903] Chr15:90754869 [GRCh38]
Chr15:91298099 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) single nucleotide variant BLM-related disorder [RCV003918350]|Bloom syndrome [RCV000863398]|Hereditary cancer-predisposing syndrome [RCV001018289]|not provided [RCV003389835] Chr15:90794192 [GRCh38]
Chr15:91337422 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4023C>T (p.Ala1341=) single nucleotide variant Bloom syndrome [RCV000937570]|Hereditary cancer-predisposing syndrome [RCV001021693] Chr15:90811353 [GRCh38]
Chr15:91354583 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-8T>G single nucleotide variant Bloom syndrome [RCV000794167] Chr15:90760139 [GRCh38]
Chr15:91303369 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro) single nucleotide variant Bloom syndrome [RCV000799272]|Hereditary cancer-predisposing syndrome [RCV002397601]|not provided [RCV003235399] Chr15:90760985 [GRCh38]
Chr15:91304215 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser) single nucleotide variant Bloom syndrome [RCV000802800] Chr15:90811351 [GRCh38]
Chr15:91354581 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe) single nucleotide variant Bloom syndrome [RCV000822571]|Hereditary cancer-predisposing syndrome [RCV004950009] Chr15:90766967 [GRCh38]
Chr15:91310197 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+1G>C single nucleotide variant BLM-related disorder [RCV004745617]|Bloom syndrome [RCV000826134]|Hereditary cancer-predisposing syndrome [RCV001019784]|not provided [RCV002462193] Chr15:90747491 [GRCh38]
Chr15:91290721 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val) single nucleotide variant Bloom syndrome [RCV000802989]|Hereditary cancer-predisposing syndrome [RCV003307470] Chr15:90809142 [GRCh38]
Chr15:91352372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr) single nucleotide variant Bloom syndrome [RCV000803071]|Hereditary cancer-predisposing syndrome [RCV001020094] Chr15:90803524 [GRCh38]
Chr15:91346754 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) single nucleotide variant Bloom syndrome [RCV000811037]|Hereditary cancer-predisposing syndrome [RCV002363095] Chr15:90760279 [GRCh38]
Chr15:91303509 [GRCh37]
Chr15:15q26.1		 pathogenic|uncertain significance
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro) single nucleotide variant Bloom syndrome [RCV000799855] Chr15:90803596 [GRCh38]
Chr15:91346826 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.619del (p.Asp207fs) deletion Bloom syndrome [RCV000796888] Chr15:90749887 [GRCh38]
Chr15:91293117 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3020-7C>G single nucleotide variant Bloom syndrome [RCV001459466]|not provided [RCV004997426] Chr15:90794160 [GRCh38]
Chr15:91337390 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1088-5del deletion Bloom syndrome [RCV000794084] Chr15:90760139 [GRCh38]
Chr15:91303369 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.960-1G>A single nucleotide variant Bloom syndrome [RCV000797339] Chr15:90754810 [GRCh38]
Chr15:91298040 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.256G>C (p.Val86Leu) single nucleotide variant Bloom syndrome [RCV000820301]|Hereditary cancer-predisposing syndrome [RCV002427050] Chr15:90749524 [GRCh38]
Chr15:91292754 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr) single nucleotide variant Bloom syndrome [RCV000820338]|Hereditary cancer-predisposing syndrome [RCV002427052] Chr15:90751807 [GRCh38]
Chr15:91295037 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr) single nucleotide variant Bloom syndrome [RCV000795153]|Colorectal cancer [RCV005359531]|Hereditary cancer-predisposing syndrome [RCV001013638]|not provided [RCV004997327]|not specified [RCV001816851] Chr15:90763014 [GRCh38]
Chr15:91306244 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala) single nucleotide variant Bloom syndrome [RCV000817150]|Hereditary cancer-predisposing syndrome [RCV001019845] Chr15:90798287 [GRCh38]
Chr15:91341517 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr) single nucleotide variant Bloom syndrome [RCV000804098]|Hereditary cancer-predisposing syndrome [RCV002345804] Chr15:90804249 [GRCh38]
Chr15:91347479 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+9dup duplication Bloom syndrome [RCV000981463] Chr15:90794359..90794360 [GRCh38]
Chr15:91337589..91337590 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3252T>C (p.Ile1084=) single nucleotide variant Bloom syndrome [RCV000919531]|Hereditary cancer-predisposing syndrome [RCV002445020] Chr15:90798231 [GRCh38]
Chr15:91341461 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.284C>A (p.Ala95Glu) single nucleotide variant Bloom syndrome [RCV000797772]|Hereditary cancer-predisposing syndrome [RCV002440651] Chr15:90749552 [GRCh38]
Chr15:91292782 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu) single nucleotide variant Bloom syndrome [RCV000817433]|Hereditary cancer-predisposing syndrome [RCV002406869] Chr15:90763017 [GRCh38]
Chr15:91306247 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+7A>G single nucleotide variant Bloom syndrome [RCV000863944] Chr15:90750074 [GRCh38]
Chr15:91293304 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala) single nucleotide variant Bloom syndrome [RCV000797874] Chr15:90804279 [GRCh38]
Chr15:91347509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1288T>C (p.Tyr430His) single nucleotide variant Bloom syndrome [RCV000804510]|Hereditary cancer-predisposing syndrome [RCV002381763] Chr15:90760661 [GRCh38]
Chr15:91303891 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2517G>A (p.Lys839=) single nucleotide variant Bloom syndrome [RCV000871618]|Hereditary cancer-predisposing syndrome [RCV002427179] Chr15:90769548 [GRCh38]
Chr15:91312778 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) indel Bloom syndrome [RCV000798090] Chr15:90766924..90766929 [GRCh38]
Chr15:91310154..91310159 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2374T>G (p.Phe792Val) single nucleotide variant Bloom syndrome [RCV000821158]|Hereditary cancer-predisposing syndrome [RCV002453886] Chr15:90769199 [GRCh38]
Chr15:91312429 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2441T>C (p.Met814Thr) single nucleotide variant Bloom syndrome [RCV001060382] Chr15:90769472 [GRCh38]
Chr15:91312702 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly) single nucleotide variant Bloom syndrome [RCV001061011]|Hereditary cancer-predisposing syndrome [RCV003283940] Chr15:90798221 [GRCh38]
Chr15:91341451 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu) single nucleotide variant Bloom syndrome [RCV001061108]|Hereditary cancer-predisposing syndrome [RCV002429690] Chr15:90765414 [GRCh38]
Chr15:91308644 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1057C>G (p.Leu353Val) single nucleotide variant Bloom syndrome [RCV001061235]|Hereditary cancer-predisposing syndrome [RCV002411571] Chr15:90754908 [GRCh38]
Chr15:91298138 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2402G>C (p.Ser801Thr) single nucleotide variant Bloom syndrome [RCV001061791] Chr15:90769227 [GRCh38]
Chr15:91312457 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.220A>G (p.Ser74Gly) single nucleotide variant Bloom syndrome [RCV001062139]|Hereditary cancer-predisposing syndrome [RCV002429696] Chr15:90749488 [GRCh38]
Chr15:91292718 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3899G>A (p.Ser1300Asn) single nucleotide variant Bloom syndrome [RCV001062190] Chr15:90811229 [GRCh38]
Chr15:91354459 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1046G>A (p.Ser349Asn) single nucleotide variant Bloom syndrome [RCV001065660] Chr15:90754897 [GRCh38]
Chr15:91298127 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe) single nucleotide variant Bloom syndrome [RCV001068821]|Hereditary cancer-predisposing syndrome [RCV003160567] Chr15:90769187 [GRCh38]
Chr15:91312417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90809127)_(90815289_?)del deletion Bloom syndrome [RCV001031120] Chr15:91352357..91358519 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.10:g.(?_90790639)_(90790854_?)del deletion Bloom syndrome [RCV001031995] Chr15:91333869..91334084 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2539A>C (p.Ile847Leu) single nucleotide variant Bloom syndrome [RCV001038030] Chr15:90769570 [GRCh38]
Chr15:91312800 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3533A>C (p.Gln1178Pro) single nucleotide variant Bloom syndrome [RCV001041218] Chr15:90803695 [GRCh38]
Chr15:91346925 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2948A>T (p.Asp983Val) single nucleotide variant Bloom syndrome [RCV001046817]|Hereditary cancer-predisposing syndrome [RCV002436574] Chr15:90790773 [GRCh38]
Chr15:91334003 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2876G>A (p.Arg959Gln) single nucleotide variant Bloom syndrome [RCV001048649]|Hereditary cancer-predisposing syndrome [RCV002436592]|not provided [RCV002291712] Chr15:90790701 [GRCh38]
Chr15:91333931 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1771C>T (p.Arg591Trp) single nucleotide variant Bloom syndrome [RCV001049643]|Hereditary cancer-predisposing syndrome [RCV002409425]|not provided [RCV004789381] Chr15:90761144 [GRCh38]
Chr15:91304374 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4025C>T (p.Ser1342Phe) single nucleotide variant Bloom syndrome [RCV001052584] Chr15:90811355 [GRCh38]
Chr15:91354585 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1798C>T (p.Leu600Phe) single nucleotide variant Bloom syndrome [RCV001055907] Chr15:90761171 [GRCh38]
Chr15:91304401 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr) single nucleotide variant Bloom syndrome [RCV001056122]|Hereditary cancer-predisposing syndrome [RCV002451229] Chr15:90803665 [GRCh38]
Chr15:91346895 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe) single nucleotide variant Bloom syndrome [RCV001368969]|Hereditary cancer-predisposing syndrome [RCV001021485] Chr15:90811273 [GRCh38]
Chr15:91354503 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu) single nucleotide variant Bloom syndrome [RCV001832351]|Hereditary cancer-predisposing syndrome [RCV001021534] Chr15:90811291 [GRCh38]
Chr15:91354521 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.480T>C (p.Phe160=) single nucleotide variant Bloom syndrome [RCV001503613]|Hereditary cancer-predisposing syndrome [RCV001023094] Chr15:90749748 [GRCh38]
Chr15:91292978 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3262G>C (p.Val1088Leu) single nucleotide variant Bloom syndrome [RCV001368660]|Hereditary cancer-predisposing syndrome [RCV001019528] Chr15:90798241 [GRCh38]
Chr15:91341471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile) single nucleotide variant Bloom syndrome [RCV001832352]|Hereditary cancer-predisposing syndrome [RCV001021961] Chr15:90815179 [GRCh38]
Chr15:91358409 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.409A>G (p.Lys137Glu) single nucleotide variant Bloom syndrome [RCV005093217]|Hereditary cancer-predisposing syndrome [RCV001021856] Chr15:90749677 [GRCh38]
Chr15:91292907 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3563A>T (p.Asp1188Val) single nucleotide variant Bloom syndrome [RCV005093199]|Hereditary cancer-predisposing syndrome [RCV001020615] Chr15:90804171 [GRCh38]
Chr15:91347401 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4237del (p.Ser1413fs) deletion Bloom syndrome [RCV001827203]|Hereditary cancer-predisposing syndrome [RCV001022111] Chr15:90815261 [GRCh38]
Chr15:91358491 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) single nucleotide variant Bloom syndrome [RCV000869579]|Hereditary cancer-predisposing syndrome [RCV002363252]|Olaparib response [RCV003483746] Chr15:90811208 [GRCh38]
Chr15:91354438 [GRCh37]
Chr15:15q26.1		 benign|likely benign|drug response
NM_000057.4(BLM):c.431C>T (p.Ser144Leu) single nucleotide variant Bloom syndrome [RCV001232988]|Hereditary cancer-predisposing syndrome [RCV001022286] Chr15:90749699 [GRCh38]
Chr15:91292929 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1134C>T (p.His378=) single nucleotide variant Bloom syndrome [RCV001471882]|Hereditary cancer-predisposing syndrome [RCV001009966] Chr15:90760193 [GRCh38]
Chr15:91303423 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3355T>C (p.Leu1119=) single nucleotide variant Bloom syndrome [RCV001873328]|Hereditary cancer-predisposing syndrome [RCV001020070] Chr15:90798334 [GRCh38]
Chr15:91341564 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu) single nucleotide variant Bloom syndrome [RCV001234736]|Hereditary cancer-predisposing syndrome [RCV001010241] Chr15:90760249 [GRCh38]
Chr15:91303479 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NM_000057.4(BLM):c.4188G>A (p.Leu1396=) single nucleotide variant Bloom syndrome [RCV000870316]|Hereditary cancer-predisposing syndrome [RCV001022005] Chr15:90815213 [GRCh38]
Chr15:91358443 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+9T>C single nucleotide variant Bloom syndrome [RCV000870369] Chr15:90765423 [GRCh38]
Chr15:91308653 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3731T>G (p.Val1244Gly) single nucleotide variant Bloom syndrome [RCV005056779]|Hereditary cancer-predisposing syndrome [RCV001020997] Chr15:90804339 [GRCh38]
Chr15:91347569 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3743A>G (p.Lys1248Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021023] Chr15:90804351 [GRCh38]
Chr15:91347581 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly) single nucleotide variant Bloom syndrome [RCV003614075]|Hereditary cancer-predisposing syndrome [RCV001021729] Chr15:90811369 [GRCh38]
Chr15:91354599 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4182C>A (p.Ser1394Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022000] Chr15:90815207 [GRCh38]
Chr15:91358437 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.954C>G (p.Cys318Trp) single nucleotide variant Bloom syndrome [RCV001273657]|Hereditary cancer-predisposing syndrome [RCV001019476] Chr15:90751941 [GRCh38]
Chr15:91295171 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90749357)_(90765424_?)del deletion Bloom syndrome [RCV001031459] Chr15:91292587..91308654 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.10:g.(?_90782812)_(90785091_?)del deletion Bloom syndrome [RCV001031643] Chr15:91326042..91328321 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1476_1487del (p.Phe492_His495del) deletion Bloom syndrome [RCV001214357] Chr15:90760847..90760858 [GRCh38]
Chr15:91304077..91304088 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90803511)_(90804369_?)del deletion Bloom syndrome [RCV001032968] Chr15:91346741..91347599 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1826C>T (p.Pro609Leu) single nucleotide variant Bloom syndrome [RCV001037039] Chr15:90761199 [GRCh38]
Chr15:91304429 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4163C>T (p.Ala1388Val) single nucleotide variant Bloom syndrome [RCV001038071] Chr15:90815188 [GRCh38]
Chr15:91358418 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.661A>T (p.Thr221Ser) single nucleotide variant Bloom syndrome [RCV001038087]|Hereditary cancer-predisposing syndrome [RCV002372757] Chr15:90749929 [GRCh38]
Chr15:91293159 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro) single nucleotide variant Bloom syndrome [RCV001828604]|Hereditary cancer-predisposing syndrome [RCV002418655]|not specified [RCV001194356] Chr15:90754926 [GRCh38]
Chr15:91298156 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+4_799+5delinsCA indel Bloom syndrome [RCV001046950]|Hereditary cancer-predisposing syndrome [RCV002416370] Chr15:90750071..90750072 [GRCh38]
Chr15:91293301..91293302 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.398A>G (p.Asp133Gly) single nucleotide variant Bloom syndrome [RCV001050366]|Hereditary cancer-predisposing syndrome [RCV002374901] Chr15:90749666 [GRCh38]
Chr15:91292896 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter) single nucleotide variant Bloom syndrome [RCV001050406] Chr15:90794234 [GRCh38]
Chr15:91337464 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2489C>G (p.Thr830Arg) single nucleotide variant Bloom syndrome [RCV001054163]|Hereditary cancer-predisposing syndrome [RCV002429661] Chr15:90769520 [GRCh38]
Chr15:91312750 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.382G>A (p.Val128Ile) single nucleotide variant Bloom syndrome [RCV001221344]|Hereditary cancer-predisposing syndrome [RCV002356941]|not specified [RCV001819914] Chr15:90749650 [GRCh38]
Chr15:91292880 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3558+2T>C single nucleotide variant Bloom syndrome [RCV001219429]|Hereditary cancer-predisposing syndrome [RCV003284070] Chr15:90803722 [GRCh38]
Chr15:91346952 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|uncertain significance
NM_000057.4(BLM):c.926T>C (p.Ile309Thr) single nucleotide variant Bloom syndrome [RCV001062095]|Hereditary cancer-predisposing syndrome [RCV004950220] Chr15:90751913 [GRCh38]
Chr15:91295143 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1612G>A (p.Ala538Thr) single nucleotide variant Bloom syndrome [RCV001245684]|Hereditary cancer-predisposing syndrome [RCV005298754] Chr15:90760985 [GRCh38]
Chr15:91304215 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3608C>G (p.Ala1203Gly) single nucleotide variant Bloom syndrome [RCV001205650] Chr15:90804216 [GRCh38]
Chr15:91347446 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.514C>G (p.Pro172Ala) single nucleotide variant Bloom syndrome [RCV001069220]|Hereditary cancer-predisposing syndrome [RCV004609613] Chr15:90749782 [GRCh38]
Chr15:91293012 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91347599-91491931)x1 copy number loss not provided [RCV001006722] Chr15:91347599..91491931 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.107C>G (p.Thr36Ser) single nucleotide variant Bloom syndrome [RCV001228750] Chr15:90749375 [GRCh38]
Chr15:91292605 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.145G>A (p.Val49Ile) single nucleotide variant Bloom syndrome [RCV001071066]|Hereditary cancer-predisposing syndrome [RCV002393341] Chr15:90749413 [GRCh38]
Chr15:91292643 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr) single nucleotide variant BLM-related disorder [RCV003983833]|Bloom syndrome [RCV001071593]|Hereditary cancer-predisposing syndrome [RCV002327372] Chr15:90749696 [GRCh38]
Chr15:91292926 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3492T>C (p.Asn1164=) single nucleotide variant Bloom syndrome [RCV001455874]|Hereditary cancer-predisposing syndrome [RCV001020435] Chr15:90803654 [GRCh38]
Chr15:91346884 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3509A>G (p.Tyr1170Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020479] Chr15:90803671 [GRCh38]
Chr15:91346901 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1337C>A (p.Thr446Lys) single nucleotide variant Bloom syndrome [RCV001208525]|Hereditary cancer-predisposing syndrome [RCV003163580] Chr15:90760710 [GRCh38]
Chr15:91303940 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln) single nucleotide variant Bloom syndrome [RCV001211858]|Hereditary cancer-predisposing syndrome [RCV002411778] Chr15:90761075 [GRCh38]
Chr15:91304305 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2792A>G (p.Gln931Arg) single nucleotide variant Bloom syndrome [RCV001225968] Chr15:90785050 [GRCh38]
Chr15:91328280 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2554G>C (p.Val852Leu) single nucleotide variant Bloom syndrome [RCV001203289] Chr15:90769585 [GRCh38]
Chr15:91312815 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3076A>G (p.Met1026Val) single nucleotide variant Bloom syndrome [RCV001245944]|Hereditary cancer-predisposing syndrome [RCV002319682]|not provided [RCV002281179] Chr15:90794223 [GRCh38]
Chr15:91337453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2122G>A (p.Gly708Arg) single nucleotide variant Bloom syndrome [RCV001221441] Chr15:90765343 [GRCh38]
Chr15:91308573 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556-1G>T single nucleotide variant Bloom syndrome [RCV001221740] Chr15:90782821 [GRCh38]
Chr15:91326051 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4055C>T (p.Ser1352Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021764]|not provided [RCV004800661] Chr15:90811385 [GRCh38]
Chr15:91354615 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2090T>C (p.Leu697Ser) single nucleotide variant Bloom syndrome [RCV001235974]|Hereditary cancer-predisposing syndrome [RCV004951404]|not provided [RCV004998756] Chr15:90765311 [GRCh38]
Chr15:91308541 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr) single nucleotide variant Bloom syndrome [RCV001242067]|Hereditary cancer-predisposing syndrome [RCV003166511] Chr15:90749774 [GRCh38]
Chr15:91293004 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.754G>A (p.Ala252Thr) single nucleotide variant Bloom syndrome [RCV001238208] Chr15:90750022 [GRCh38]
Chr15:91293252 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3226G>A (p.Asp1076Asn) single nucleotide variant Bloom syndrome [RCV001210875]|Hereditary cancer-predisposing syndrome [RCV002322027]|not provided [RCV004761981] Chr15:90798205 [GRCh38]
Chr15:91341435 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln) single nucleotide variant Bloom syndrome [RCV001211247] Chr15:90804242 [GRCh38]
Chr15:91347472 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2633G>C (p.Cys878Ser) single nucleotide variant Bloom syndrome [RCV001215506]|Hereditary cancer-predisposing syndrome [RCV002429916] Chr15:90782899 [GRCh38]
Chr15:91326129 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1622A>G (p.Asn541Ser) single nucleotide variant Bloom syndrome [RCV001212164]|Hereditary cancer-predisposing syndrome [RCV004601391] Chr15:90760995 [GRCh38]
Chr15:91304225 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr) single nucleotide variant Bloom syndrome [RCV001218194]|Hereditary cancer-predisposing syndrome [RCV002436838] Chr15:90785001 [GRCh38]
Chr15:91328231 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val) single nucleotide variant BLM-related disorder [RCV003898211]|Bloom syndrome [RCV001220307]|Hereditary cancer-predisposing syndrome [RCV002451504] Chr15:90803533 [GRCh38]
Chr15:91346763 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3125del (p.Leu1042fs) deletion Bloom syndrome [RCV001233659] Chr15:90794269 [GRCh38]
Chr15:91337499 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2236G>A (p.Ala746Thr) single nucleotide variant Bloom syndrome [RCV001238969]|Hereditary cancer-predisposing syndrome [RCV004034594] Chr15:90766952 [GRCh38]
Chr15:91310182 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.146T>C (p.Val49Ala) single nucleotide variant Bloom syndrome [RCV001243845]|Hereditary cancer-predisposing syndrome [RCV002393642]|not specified [RCV001819945] Chr15:90749414 [GRCh38]
Chr15:91292644 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2442G>T (p.Met814Ile) single nucleotide variant Bloom syndrome [RCV001216346]|Hereditary cancer-predisposing syndrome [RCV002451479] Chr15:90769473 [GRCh38]
Chr15:91312703 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.497C>T (p.Ser166Leu) single nucleotide variant Bloom syndrome [RCV001227725]|Hereditary cancer-predisposing syndrome [RCV002339620] Chr15:90749765 [GRCh38]
Chr15:91292995 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1361A>G (p.Asn454Ser) single nucleotide variant Bloom syndrome [RCV001229778] Chr15:90760734 [GRCh38]
Chr15:91303964 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1802C>T (p.Ser601Phe) single nucleotide variant Bloom syndrome [RCV001224696] Chr15:90761175 [GRCh38]
Chr15:91304405 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3199T>C (p.Cys1067Arg) single nucleotide variant Bloom syndrome [RCV001224390]|Hereditary cancer-predisposing syndrome [RCV005298739] Chr15:90794346 [GRCh38]
Chr15:91337576 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3114A>C (p.Arg1038Ser) single nucleotide variant Bloom syndrome [RCV001243810]|Hereditary cancer-predisposing syndrome [RCV002322155] Chr15:90794261 [GRCh38]
Chr15:91337491 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer) deletion Bloom syndrome [RCV001246107] Chr15:90760625..90760626 [GRCh38]
Chr15:91303855..91303856 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3559G>A (p.Val1187Ile) single nucleotide variant Bloom syndrome [RCV001225947] Chr15:90804167 [GRCh38]
Chr15:91347397 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly) single nucleotide variant Bloom syndrome [RCV001234922]|Hereditary cancer-predisposing syndrome [RCV002375247] Chr15:90811336 [GRCh38]
Chr15:91354566 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr) single nucleotide variant Bloom syndrome [RCV001241236]|Hereditary cancer-predisposing syndrome [RCV003346406]|not specified [RCV003490151] Chr15:90760965 [GRCh38]
Chr15:91304195 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.172C>T (p.Pro58Ser) single nucleotide variant Bloom syndrome [RCV001241907] Chr15:90749440 [GRCh38]
Chr15:91292670 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.397G>A (p.Asp133Asn) single nucleotide variant Bloom syndrome [RCV001247344]|Hereditary cancer-predisposing syndrome [RCV002357051] Chr15:90749665 [GRCh38]
Chr15:91292895 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.883G>A (p.Asp295Asn) single nucleotide variant Bloom syndrome [RCV001244495]|Hereditary cancer-predisposing syndrome [RCV002375294] Chr15:90751870 [GRCh38]
Chr15:91295100 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg) single nucleotide variant Bloom syndrome [RCV001860972]|Hereditary cancer-predisposing syndrome [RCV001020077] Chr15:90798337 [GRCh38]
Chr15:91341567 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.760G>T (p.Glu254Ter) single nucleotide variant Bloom syndrome [RCV001218699] Chr15:90750028 [GRCh38]
Chr15:91293258 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.641A>G (p.Glu214Gly) single nucleotide variant Bloom syndrome [RCV001219610]|Hereditary cancer-predisposing syndrome [RCV004032366] Chr15:90749909 [GRCh38]
Chr15:91293139 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3769C>G (p.Pro1257Ala) single nucleotide variant Bloom syndrome [RCV001219649] Chr15:90809154 [GRCh38]
Chr15:91352384 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220+3A>G single nucleotide variant Bloom syndrome [RCV001220808]|Hereditary cancer-predisposing syndrome [RCV002365996] Chr15:90760282 [GRCh38]
Chr15:91303512 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|uncertain significance
NM_000057.4(BLM):c.3490A>G (p.Asn1164Asp) single nucleotide variant Bloom syndrome [RCV001233822] Chr15:90803652 [GRCh38]
Chr15:91346882 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter) single nucleotide variant Bloom syndrome [RCV001234159] Chr15:90765318 [GRCh38]
Chr15:91308548 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile) single nucleotide variant Bloom syndrome [RCV001238312]|Hereditary cancer-predisposing syndrome [RCV004951413]|not provided [RCV005241444] Chr15:90809160 [GRCh38]
Chr15:91352390 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1391C>T (p.Ser464Phe) single nucleotide variant Bloom syndrome [RCV001238329]|Hereditary cancer-predisposing syndrome [RCV002393608] Chr15:90760764 [GRCh38]
Chr15:91303994 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3529G>A (p.Ala1177Thr) single nucleotide variant Bloom syndrome [RCV001221619] Chr15:90803691 [GRCh38]
Chr15:91346921 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.944C>T (p.Ser315Phe) single nucleotide variant Bloom syndrome [RCV001234596]|Hereditary cancer-predisposing syndrome [RCV004951398] Chr15:90751931 [GRCh38]
Chr15:91295161 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.781C>T (p.His261Tyr) single nucleotide variant Bloom syndrome [RCV001223433]|Hereditary cancer-predisposing syndrome [RCV004951354] Chr15:90750049 [GRCh38]
Chr15:91293279 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3431G>T (p.Arg1144Ile) single nucleotide variant Bloom syndrome [RCV001239332] Chr15:90803593 [GRCh38]
Chr15:91346823 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr) single nucleotide variant Bloom syndrome [RCV001239441]|Hereditary cancer-predisposing syndrome [RCV004034613] Chr15:90760809 [GRCh38]
Chr15:91304039 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile) single nucleotide variant Bloom syndrome [RCV001231175]|Hereditary cancer-predisposing syndrome [RCV001020996] Chr15:90804338 [GRCh38]
Chr15:91347568 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4116A>C (p.Lys1372Asn) single nucleotide variant Bloom syndrome [RCV001225071]|Hereditary cancer-predisposing syndrome [RCV002322094] Chr15:90815141 [GRCh38]
Chr15:91358371 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr) single nucleotide variant Bloom syndrome [RCV003505161]|Hereditary cancer-predisposing syndrome [RCV001021346] Chr15:90811210 [GRCh38]
Chr15:91354440 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3903G>A (p.Leu1301=) single nucleotide variant Bloom syndrome [RCV005093210]|Hereditary cancer-predisposing syndrome [RCV001021403] Chr15:90811233 [GRCh38]
Chr15:91354463 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs) deletion Bloom syndrome [RCV001225612]|Hereditary cancer-predisposing syndrome [RCV003284079] Chr15:90760237..90760238 [GRCh38]
Chr15:91303467..91303468 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2827A>G (p.Ile943Val) single nucleotide variant Bloom syndrome [RCV001226342] Chr15:90790652 [GRCh38]
Chr15:91333882 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.403G>C (p.Ala135Pro) single nucleotide variant Bloom syndrome [RCV001215406]|Hereditary cancer-predisposing syndrome [RCV001021734] Chr15:90749671 [GRCh38]
Chr15:91292901 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.881A>G (p.Asp294Gly) single nucleotide variant Bloom syndrome [RCV001226650] Chr15:90751868 [GRCh38]
Chr15:91295098 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys) single nucleotide variant Bloom syndrome [RCV001243796]|Hereditary cancer-predisposing syndrome [RCV001021848] Chr15:90815119 [GRCh38]
Chr15:91358349 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4151A>G (p.His1384Arg) single nucleotide variant Bloom syndrome [RCV005056780]|Hereditary cancer-predisposing syndrome [RCV001021956] Chr15:90815176 [GRCh38]
Chr15:91358406 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.417A>G (p.Leu139=) single nucleotide variant Bloom syndrome [RCV002549547]|Hereditary cancer-predisposing syndrome [RCV001021996]|not provided [RCV003389856] Chr15:90749685 [GRCh38]
Chr15:91292915 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro) single nucleotide variant Bloom syndrome [RCV001227113]|Hereditary cancer-predisposing syndrome [RCV003284082] Chr15:90762978 [GRCh38]
Chr15:91306208 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1088-40del deletion Bloom syndrome [RCV001027930] Chr15:90760096 [GRCh38]
Chr15:91303326 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.486T>C (p.Thr162=) single nucleotide variant Bloom syndrome [RCV001027931]|Hereditary cancer-predisposing syndrome [RCV002327239] Chr15:90749754 [GRCh38]
Chr15:91292984 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.131A>G (p.Asp44Gly) single nucleotide variant Bloom syndrome [RCV001240527] Chr15:90749399 [GRCh38]
Chr15:91292629 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly) single nucleotide variant Bloom syndrome [RCV001235772]|Hereditary cancer-predisposing syndrome [RCV003294118] Chr15:90815148 [GRCh38]
Chr15:91358378 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe) single nucleotide variant Bloom syndrome [RCV001241217]|Hereditary cancer-predisposing syndrome [RCV002327583] Chr15:90760236 [GRCh38]
Chr15:91303466 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+4A>C single nucleotide variant Bloom syndrome [RCV001236581] Chr15:90750071 [GRCh38]
Chr15:91293301 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.252A>C (p.Gln84His) single nucleotide variant Bloom syndrome [RCV001231939] Chr15:90749520 [GRCh38]
Chr15:91292750 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3101C>A (p.Thr1034Lys) single nucleotide variant Bloom syndrome [RCV001242329]|Hereditary cancer-predisposing syndrome [RCV005298752] Chr15:90794248 [GRCh38]
Chr15:91337478 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1150G>C (p.Asp384His) single nucleotide variant Bloom syndrome [RCV001216781] Chr15:90760209 [GRCh38]
Chr15:91303439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.809A>G (p.Glu270Gly) single nucleotide variant Bloom syndrome [RCV001237509] Chr15:90751796 [GRCh38]
Chr15:91295026 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) microsatellite Bloom syndrome [RCV001243070]|Hereditary cancer-predisposing syndrome [RCV003294138] Chr15:90804342..90804343 [GRCh38]
Chr15:91347572..91347573 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2555+19C>T single nucleotide variant Bloom syndrome [RCV003104462] Chr15:90769605 [GRCh38]
Chr15:91312835 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1882+268A>G single nucleotide variant not provided [RCV001576104] Chr15:90761523 [GRCh38]
Chr15:91304753 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1674A>T (p.Ile558=) single nucleotide variant Bloom syndrome [RCV001559215]|Hereditary cancer-predisposing syndrome [RCV003298929] Chr15:90761047 [GRCh38]
Chr15:91304277 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.960-283T>C single nucleotide variant not provided [RCV001566955] Chr15:90754528 [GRCh38]
Chr15:91297758 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-253A>G single nucleotide variant not provided [RCV001548209] Chr15:90751534 [GRCh38]
Chr15:91294764 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.175_176del (p.Val59fs) deletion Bloom syndrome [RCV001533171] Chr15:90749442..90749443 [GRCh38]
Chr15:91292672..91292673 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2556-130C>T single nucleotide variant Bloom syndrome [RCV001533492]|not provided [RCV001619947] Chr15:90782692 [GRCh38]
Chr15:91325922 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1087+180A>G single nucleotide variant not provided [RCV001560763] Chr15:90755118 [GRCh38]
Chr15:91298348 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-176A>G single nucleotide variant not provided [RCV001608432] Chr15:90765120 [GRCh38]
Chr15:91308350 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2074+89A>G single nucleotide variant not provided [RCV001577145] Chr15:90763246 [GRCh38]
Chr15:91306476 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+264T>G single nucleotide variant not provided [RCV001562449] Chr15:90785345 [GRCh38]
Chr15:91328575 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.99-198G>A single nucleotide variant not provided [RCV001562510] Chr15:90749169 [GRCh38]
Chr15:91292399 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-209dup duplication not provided [RCV001676178] Chr15:90793947..90793948 [GRCh38]
Chr15:91337177..91337178 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3019+105G>A single nucleotide variant not provided [RCV001656415] Chr15:90790949 [GRCh38]
Chr15:91334179 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2193+126T>A single nucleotide variant not provided [RCV001571992] Chr15:90765540 [GRCh38]
Chr15:91308770 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2663-102G>T single nucleotide variant not provided [RCV001559070] Chr15:90784819 [GRCh38]
Chr15:91328049 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-175del deletion not provided [RCV001696484] Chr15:90759957 [GRCh38]
Chr15:91303187 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3744G>A (p.Lys1248=) single nucleotide variant Bloom syndrome [RCV003505149] Chr15:90804352 [GRCh38]
Chr15:91347582 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3840A>G (p.Ser1280=) single nucleotide variant Bloom syndrome [RCV001421200]|Hereditary cancer-predisposing syndrome [RCV004601313] Chr15:90809225 [GRCh38]
Chr15:91352455 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2307+10T>G single nucleotide variant Bloom syndrome [RCV000872918] Chr15:90767033 [GRCh38]
Chr15:91310263 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.453C>A (p.Ile151=) single nucleotide variant Bloom syndrome [RCV000939370]|Hereditary cancer-predisposing syndrome [RCV001022665] Chr15:90749721 [GRCh38]
Chr15:91292951 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4179T>C (p.Asn1393=) single nucleotide variant Bloom syndrome [RCV001403353]|Hereditary cancer-predisposing syndrome [RCV004029561] Chr15:90815204 [GRCh38]
Chr15:91358434 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-7C>T single nucleotide variant Bloom syndrome [RCV000944629] Chr15:90794160 [GRCh38]
Chr15:91337390 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2898C>T (p.Leu966=) single nucleotide variant Bloom syndrome [RCV000907246] Chr15:90790723 [GRCh38]
Chr15:91333953 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3666T>A (p.Leu1222=) single nucleotide variant Bloom syndrome [RCV001475156]|Hereditary cancer-predisposing syndrome [RCV003279156] Chr15:90804274 [GRCh38]
Chr15:91347504 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3756T>A (p.Ser1252=) single nucleotide variant Bloom syndrome [RCV000874371]|Hereditary cancer-predisposing syndrome [RCV001021060] Chr15:90809141 [GRCh38]
Chr15:91352371 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.930T>C (p.Ser310=) single nucleotide variant Bloom syndrome [RCV000887326]|Hereditary cancer-predisposing syndrome [RCV001019161] Chr15:90751917 [GRCh38]
Chr15:91295147 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1362T>C (p.Asn454=) single nucleotide variant Bloom syndrome [RCV001275545]|Hereditary cancer-predisposing syndrome [RCV002382041] Chr15:90760735 [GRCh38]
Chr15:91303965 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2662+8C>G single nucleotide variant Bloom syndrome [RCV001465382] Chr15:90782936 [GRCh38]
Chr15:91326166 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.204C>G (p.Thr68=) single nucleotide variant Bloom syndrome [RCV000874759]|Hereditary cancer-predisposing syndrome [RCV001014235] Chr15:90749472 [GRCh38]
Chr15:91292702 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.348G>A (p.Lys116=) single nucleotide variant Bloom syndrome [RCV001447095]|Hereditary cancer-predisposing syndrome [RCV002454109] Chr15:90749616 [GRCh38]
Chr15:91292846 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+7T>A single nucleotide variant Bloom syndrome [RCV000932695] Chr15:90790851 [GRCh38]
Chr15:91334081 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4206G>A (p.Pro1402=) single nucleotide variant Bloom syndrome [RCV000870136]|Hereditary cancer-predisposing syndrome [RCV002332816] Chr15:90815231 [GRCh38]
Chr15:91358461 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2787A>G (p.Glu929=) single nucleotide variant Bloom syndrome [RCV000872555]|Hereditary cancer-predisposing syndrome [RCV001016606] Chr15:90785045 [GRCh38]
Chr15:91328275 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.249G>A (p.Gln83=) single nucleotide variant Bloom syndrome [RCV001443440]|Hereditary cancer-predisposing syndrome [RCV004029316] Chr15:90749517 [GRCh38]
Chr15:91292747 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.450C>T (p.Thr150=) single nucleotide variant Bloom syndrome [RCV000870463]|Hereditary cancer-predisposing syndrome [RCV001022608] Chr15:90749718 [GRCh38]
Chr15:91292948 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3141A>G (p.Glu1047=) single nucleotide variant Bloom syndrome [RCV001413171] Chr15:90794288 [GRCh38]
Chr15:91337518 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1917G>A (p.Leu639=) single nucleotide variant Bloom syndrome [RCV001487503]|Hereditary cancer-predisposing syndrome [RCV002409091] Chr15:90763000 [GRCh38]
Chr15:91306230 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-4G>A single nucleotide variant Bloom syndrome [RCV001498854]|not provided [RCV003478570] Chr15:90751783 [GRCh38]
Chr15:91295013 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.810A>G (p.Glu270=) single nucleotide variant Bloom syndrome [RCV000915111]|Hereditary cancer-predisposing syndrome [RCV002416132]|not provided [RCV005256717] Chr15:90751797 [GRCh38]
Chr15:91295027 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2308-6G>A single nucleotide variant Bloom syndrome [RCV001491779] Chr15:90769127 [GRCh38]
Chr15:91312357 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1749C>T (p.Ala583=) single nucleotide variant Bloom syndrome [RCV000952582] Chr15:90761122 [GRCh38]
Chr15:91304352 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3426C>G (p.Ala1142=) single nucleotide variant Bloom syndrome [RCV001418968]|Hereditary cancer-predisposing syndrome [RCV002454212] Chr15:90803588 [GRCh38]
Chr15:91346818 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.789A>G (p.Glu263=) single nucleotide variant Bloom syndrome [RCV001413146] Chr15:90750057 [GRCh38]
Chr15:91293287 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3894G>C (p.Gly1298=) single nucleotide variant Bloom syndrome [RCV003505150] Chr15:90811224 [GRCh38]
Chr15:91354454 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2202T>C (p.Ala734=) single nucleotide variant Bloom syndrome [RCV001869317]|Hereditary cancer-predisposing syndrome [RCV005306202] Chr15:90766918 [GRCh38]
Chr15:91310148 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2022G>A (p.Glu674=) single nucleotide variant Bloom syndrome [RCV000908871]|Hereditary cancer-predisposing syndrome [RCV004028597] Chr15:90763105 [GRCh38]
Chr15:91306335 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.799+7_799+10del deletion Bloom syndrome [RCV000916864] Chr15:90750073..90750076 [GRCh38]
Chr15:91293303..91293306 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.252A>G (p.Gln84=) single nucleotide variant Bloom syndrome [RCV000908268]|Hereditary cancer-predisposing syndrome [RCV002427267] Chr15:90749520 [GRCh38]
Chr15:91292750 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2070G>A (p.Pro690=) single nucleotide variant BLM-related disorder [RCV003895380]|Bloom syndrome [RCV000876748]|Hereditary cancer-predisposing syndrome [RCV001014285] Chr15:90763153 [GRCh38]
Chr15:91306383 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.702T>G (p.Asp234Glu) single nucleotide variant Bloom syndrome [RCV001232867] Chr15:90749970 [GRCh38]
Chr15:91293200 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.511A>G (p.Thr171Ala) single nucleotide variant Bloom syndrome [RCV001214777] Chr15:90749779 [GRCh38]
Chr15:91293009 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu) single nucleotide variant Bloom syndrome [RCV001215441]|Hereditary cancer-predisposing syndrome [RCV002327501] Chr15:90815275 [GRCh38]
Chr15:91358505 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.736G>C (p.Val246Leu) single nucleotide variant Bloom syndrome [RCV001215483] Chr15:90750004 [GRCh38]
Chr15:91293234 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2390C>T (p.Ala797Val) single nucleotide variant Bloom syndrome [RCV001202345]|Hereditary cancer-predisposing syndrome [RCV004950310] Chr15:90769215 [GRCh38]
Chr15:91312445 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1970A>T (p.Lys657Met) single nucleotide variant Bloom syndrome [RCV001202595] Chr15:90763053 [GRCh38]
Chr15:91306283 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr) single nucleotide variant Bloom syndrome [RCV001243982]|Hereditary cancer-predisposing syndrome [RCV002451595] Chr15:90803605 [GRCh38]
Chr15:91346835 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe) single nucleotide variant Bloom syndrome [RCV001206868]|Hereditary cancer-predisposing syndrome [RCV002327475] Chr15:90815253 [GRCh38]
Chr15:91358483 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+1del deletion Bloom syndrome [RCV001206869]|Hereditary cancer-predisposing syndrome [RCV002322013] Chr15:90811404 [GRCh38]
Chr15:91354634 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.-33G>C single nucleotide variant Bloom syndrome [RCV001115519] Chr15:90717412 [GRCh38]
Chr15:91260643 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.436G>C (p.Asp146His) single nucleotide variant Bloom syndrome [RCV001115520] Chr15:90749704 [GRCh38]
Chr15:91292934 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1108C>T (p.Gln370Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003346308]|not provided [RCV001093442] Chr15:90760167 [GRCh38]
Chr15:91303397 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1979A>G (p.His660Arg) single nucleotide variant Bloom syndrome [RCV001209880] Chr15:90763062 [GRCh38]
Chr15:91306292 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.601A>G (p.Thr201Ala) single nucleotide variant Bloom syndrome [RCV001210169]|Hereditary cancer-predisposing syndrome [RCV005298726] Chr15:90749869 [GRCh38]
Chr15:91293099 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1135A>G (p.Ile379Val) single nucleotide variant Bloom syndrome [RCV001211283] Chr15:90760194 [GRCh38]
Chr15:91303424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.377C>G (p.Pro126Arg) single nucleotide variant Bloom syndrome [RCV001213467] Chr15:90749645 [GRCh38]
Chr15:91292875 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90754801)_(90754948_?)del deletion Bloom syndrome [RCV001033436] Chr15:91298031..91298178 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1832C>T (p.Ser611Leu) single nucleotide variant Bloom syndrome [RCV001038716] Chr15:90761205 [GRCh38]
Chr15:91304435 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.7G>A (p.Ala3Thr) single nucleotide variant Bloom syndrome [RCV001040222] Chr15:90747399 [GRCh38]
Chr15:91290629 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2072C>T (p.Thr691Ile) single nucleotide variant Bloom syndrome [RCV001042804]|Hereditary cancer-predisposing syndrome [RCV005298676] Chr15:90763155 [GRCh38]
Chr15:91306385 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.934T>A (p.Ser312Thr) single nucleotide variant Bloom syndrome [RCV001044862]|Hereditary cancer-predisposing syndrome [RCV002372786] Chr15:90751921 [GRCh38]
Chr15:91295151 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1555T>G (p.Tyr519Asp) single nucleotide variant Bloom syndrome [RCV001050239] Chr15:90760928 [GRCh38]
Chr15:91304158 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1596_1598del (p.Asp532_Gln533delinsGlu) deletion Bloom syndrome [RCV001052790] Chr15:90760968..90760970 [GRCh38]
Chr15:91304198..91304200 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2448del (p.Met816fs) deletion Bloom syndrome [RCV001058958] Chr15:90769479 [GRCh38]
Chr15:91312709 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr) single nucleotide variant Bloom syndrome [RCV001060638]|Hereditary cancer-predisposing syndrome [RCV002409480] Chr15:90762971 [GRCh38]
Chr15:91306201 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu) single nucleotide variant Bloom syndrome [RCV001060900]|Hereditary cancer-predisposing syndrome [RCV004031935] Chr15:90769580 [GRCh38]
Chr15:91312810 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2603C>A (p.Pro868Gln) single nucleotide variant Bloom syndrome [RCV001061142] Chr15:90782869 [GRCh38]
Chr15:91326099 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.707T>C (p.Ile236Thr) single nucleotide variant Bloom syndrome [RCV001061524]|Hereditary cancer-predisposing syndrome [RCV005306261] Chr15:90749975 [GRCh38]
Chr15:91293205 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3454G>T (p.Asp1152Tyr) single nucleotide variant Bloom syndrome [RCV001064090] Chr15:90803616 [GRCh38]
Chr15:91346846 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr) single nucleotide variant Bloom syndrome [RCV001065617]|Hereditary cancer-predisposing syndrome [RCV004601350] Chr15:90766916 [GRCh38]
Chr15:91310146 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3481A>G (p.Ile1161Val) single nucleotide variant Bloom syndrome [RCV001066889]|Hereditary cancer-predisposing syndrome [RCV002451289] Chr15:90803643 [GRCh38]
Chr15:91346873 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3221C>G (p.Thr1074Arg) single nucleotide variant Bloom syndrome [RCV001046284]|Hereditary cancer-predisposing syndrome [RCV001019307]|not provided [RCV003478638] Chr15:90798200 [GRCh38]
Chr15:91341430 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.329A>G (p.Asp110Gly) single nucleotide variant BLM-related disorder [RCV004746199]|Bloom syndrome [RCV001341837]|Hereditary cancer-predisposing syndrome [RCV001019773]|not provided [RCV001805974] Chr15:90749597 [GRCh38]
Chr15:91292827 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2501A>C (p.Asn834Thr) single nucleotide variant Bloom syndrome [RCV001230866] Chr15:90769532 [GRCh38]
Chr15:91312762 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1126A>C (p.Met376Leu) single nucleotide variant Bloom syndrome [RCV001230965]|Hereditary cancer-predisposing syndrome [RCV002436900] Chr15:90760185 [GRCh38]
Chr15:91303415 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.991A>G (p.Lys331Glu) single nucleotide variant Bloom syndrome [RCV002550852]|Hereditary cancer-predisposing syndrome [RCV001019888] Chr15:90754842 [GRCh38]
Chr15:91298072 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.994G>C (p.Glu332Gln) single nucleotide variant Bloom syndrome [RCV002550854]|Hereditary cancer-predisposing syndrome [RCV001019943] Chr15:90754845 [GRCh38]
Chr15:91298075 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1809C>G (p.Ala603=) single nucleotide variant Bloom syndrome [RCV000934536]|Hereditary cancer-predisposing syndrome [RCV002409216] Chr15:90761182 [GRCh38]
Chr15:91304412 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-6G>A single nucleotide variant Bloom syndrome [RCV000934609] Chr15:90809131 [GRCh38]
Chr15:91352361 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.648G>A (p.Glu216=) single nucleotide variant Bloom syndrome [RCV001414897]|Hereditary cancer-predisposing syndrome [RCV002363404] Chr15:90749916 [GRCh38]
Chr15:91293146 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4164G>A (p.Ala1388=) single nucleotide variant Bloom syndrome [RCV000912418]|Hereditary cancer-predisposing syndrome [RCV002332875] Chr15:90815189 [GRCh38]
Chr15:91358419 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) single nucleotide variant Bloom syndrome [RCV001276194]|Hereditary cancer-predisposing syndrome [RCV003169384] Chr15:90811206 [GRCh38]
Chr15:91354436 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.959+249dup duplication not provided [RCV001562592] Chr15:90752180..90752181 [GRCh38]
Chr15:91295410..91295411 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-213T>G single nucleotide variant not provided [RCV001557410] Chr15:90803954 [GRCh38]
Chr15:91347184 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-291T>G single nucleotide variant not provided [RCV001597921] Chr15:90782531 [GRCh38]
Chr15:91325761 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1088-215G>A single nucleotide variant not provided [RCV001557963] Chr15:90759932 [GRCh38]
Chr15:91303162 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.98+256T>G single nucleotide variant not provided [RCV001553160] Chr15:90747746 [GRCh38]
Chr15:91290976 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1775C>T (p.Pro592Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255808] Chr15:90761148 [GRCh38]
Chr15:91304378 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2307+278C>T single nucleotide variant not provided [RCV001549785] Chr15:90767301 [GRCh38]
Chr15:91310531 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.9:g.(?_91259558)_(91359692_?)dup duplication Bloom syndrome [RCV001031949] Chr15:91259558..91359692 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr) single nucleotide variant Bloom syndrome [RCV001038479]|Hereditary cancer-predisposing syndrome [RCV004601331] Chr15:90763118 [GRCh38]
Chr15:91306348 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.656A>G (p.Asp219Gly) single nucleotide variant Bloom syndrome [RCV001042802] Chr15:90749924 [GRCh38]
Chr15:91293154 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser) single nucleotide variant Bloom syndrome [RCV001043408]|Hereditary cancer-predisposing syndrome [RCV003307831] Chr15:90766931 [GRCh38]
Chr15:91310161 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1756C>T (p.Pro586Ser) single nucleotide variant Bloom syndrome [RCV001045052] Chr15:90761129 [GRCh38]
Chr15:91304359 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2546G>A (p.Arg849Lys) single nucleotide variant Bloom syndrome [RCV001046975]|Hereditary cancer-predisposing syndrome [RCV002429617] Chr15:90769577 [GRCh38]
Chr15:91312807 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2307+5G>C single nucleotide variant Bloom syndrome [RCV001047756]|Hereditary cancer-predisposing syndrome [RCV002445250] Chr15:90767028 [GRCh38]
Chr15:91310258 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) microsatellite Bloom syndrome [RCV001048026] Chr15:90769171..90769172 [GRCh38]
Chr15:91312401..91312402 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3751+2T>C single nucleotide variant Bloom syndrome [RCV002552042]|Hereditary breast ovarian cancer syndrome [RCV001030460] Chr15:90804361 [GRCh38]
Chr15:91347591 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.10:g.(?_90769123)_(90769596_?)del deletion Bloom syndrome [RCV001031514] Chr15:91312353..91312826 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3386G>C (p.Gly1129Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020158] Chr15:90803548 [GRCh38]
Chr15:91346778 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu) single nucleotide variant Bloom syndrome [RCV001827202]|Hereditary cancer-predisposing syndrome [RCV001021096] Chr15:90809155 [GRCh38]
Chr15:91352385 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg) single nucleotide variant Bloom syndrome [RCV001303467]|Hereditary cancer-predisposing syndrome [RCV001021448] Chr15:90811252 [GRCh38]
Chr15:91354482 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn) single nucleotide variant Bloom syndrome [RCV001273626]|Hereditary cancer-predisposing syndrome [RCV001021489] Chr15:90811276 [GRCh38]
Chr15:91354506 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) single nucleotide variant Bloom syndrome [RCV001007657] Chr15:90785067 [GRCh38]
Chr15:91328297 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2663-149T>C single nucleotide variant not provided [RCV001587493] Chr15:90784772 [GRCh38]
Chr15:91328002 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+184T>A single nucleotide variant not provided [RCV001638740] Chr15:90791028 [GRCh38]
Chr15:91334258 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2193+84C>T single nucleotide variant not provided [RCV001619493] Chr15:90765498 [GRCh38]
Chr15:91308728 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3559-95G>A single nucleotide variant not provided [RCV001636592] Chr15:90804072 [GRCh38]
Chr15:91347302 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.-5+274G>C single nucleotide variant not provided [RCV001716777] Chr15:90717714 [GRCh38]
Chr15:91260945 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3752-170C>T single nucleotide variant not provided [RCV001718104] Chr15:90808967 [GRCh38]
Chr15:91352197 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3020-408C>T single nucleotide variant not provided [RCV001540564] Chr15:90793759 [GRCh38]
Chr15:91336989 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.4076+278G>A single nucleotide variant not provided [RCV001689159] Chr15:90811684 [GRCh38]
Chr15:91354914 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1088-216del deletion not provided [RCV001598194] Chr15:90759914 [GRCh38]
Chr15:91303144 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.4077-130G>A single nucleotide variant not provided [RCV001678220] Chr15:90814972 [GRCh38]
Chr15:91358202 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1088-175dup duplication not provided [RCV001598474] Chr15:90759956..90759957 [GRCh38]
Chr15:91303186..91303187 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.-4-253G>C single nucleotide variant not provided [RCV001670856] Chr15:90747136 [GRCh38]
Chr15:91290366 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3751+166A>G single nucleotide variant not provided [RCV001658571] Chr15:90804525 [GRCh38]
Chr15:91347755 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1088-217_1088-216del deletion not provided [RCV001715300] Chr15:90759914..90759915 [GRCh38]
Chr15:91303144..91303145 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro) single nucleotide variant Bloom syndrome [RCV001313764]|Hereditary cancer-predisposing syndrome [RCV001021698] Chr15:90811354 [GRCh38]
Chr15:91354584 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1764G>A (p.Lys588=) single nucleotide variant Bloom syndrome [RCV002549383]|Hereditary cancer-predisposing syndrome [RCV001013081] Chr15:90761137 [GRCh38]
Chr15:91304367 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1863G>A (p.Glu621=) single nucleotide variant Bloom syndrome [RCV001493021]|Hereditary cancer-predisposing syndrome [RCV001013441] Chr15:90761236 [GRCh38]
Chr15:91304466 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.507T>C (p.Phe169=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023505] Chr15:90749775 [GRCh38]
Chr15:91293005 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) duplication Bloom syndrome [RCV003505155]|Hereditary cancer-predisposing syndrome [RCV001010127] Chr15:90760230..90760231 [GRCh38]
Chr15:91303460..91303461 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1739C>G (p.Ser580Cys) single nucleotide variant Bloom syndrome [RCV001216629] Chr15:90761112 [GRCh38]
Chr15:91304342 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1953T>C (p.His651=) single nucleotide variant Bloom syndrome [RCV001433606]|Hereditary cancer-predisposing syndrome [RCV001013826] Chr15:90763036 [GRCh38]
Chr15:91306266 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1191G>A (p.Gly397=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010265] Chr15:90760250 [GRCh38]
Chr15:91303480 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile) single nucleotide variant Bloom syndrome [RCV001218059]|Hereditary cancer-predisposing syndrome [RCV002356927] Chr15:90804302 [GRCh38]
Chr15:91347532 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) single nucleotide variant Bloom syndrome [RCV001387853]|Hereditary cancer-predisposing syndrome [RCV001027379] Chr15:90751816 [GRCh38]
Chr15:91295046 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu) single nucleotide variant Bloom syndrome [RCV001058441]|Hereditary cancer-predisposing syndrome [RCV001010706] Chr15:90760650 [GRCh38]
Chr15:91303880 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly) single nucleotide variant Bloom syndrome [RCV001275696]|Hereditary cancer-predisposing syndrome [RCV001010613] Chr15:90760632 [GRCh38]
Chr15:91303862 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser) single nucleotide variant Bloom syndrome [RCV001205235]|Hereditary cancer-predisposing syndrome [RCV001014755] Chr15:90766916 [GRCh38]
Chr15:91310146 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile) single nucleotide variant Bloom syndrome [RCV002550798]|Hereditary cancer-predisposing syndrome [RCV001014760] Chr15:90766920 [GRCh38]
Chr15:91310150 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2233G>A (p.Glu745Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014892] Chr15:90766949 [GRCh38]
Chr15:91310179 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) single nucleotide variant Bloom syndrome [RCV001120518]|Hereditary cancer-predisposing syndrome [RCV001015007]|not provided [RCV001759694] Chr15:90766987 [GRCh38]
Chr15:91310217 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2308-4C>G single nucleotide variant Bloom syndrome [RCV005093116]|Hereditary cancer-predisposing syndrome [RCV001015150] Chr15:90769129 [GRCh38]
Chr15:91312359 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) single nucleotide variant Bloom syndrome [RCV001209273]|Hereditary cancer-predisposing syndrome [RCV001015204] Chr15:90769154 [GRCh38]
Chr15:91312384 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2454C>A (p.Arg818=) single nucleotide variant Bloom syndrome [RCV002549423]|Hereditary cancer-predisposing syndrome [RCV001015593] Chr15:90769485 [GRCh38]
Chr15:91312715 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2480T>C (p.Met827Thr) single nucleotide variant Bloom syndrome [RCV001272635]|Hereditary cancer-predisposing syndrome [RCV001015706] Chr15:90769511 [GRCh38]
Chr15:91312741 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556-2A>G single nucleotide variant Bloom syndrome [RCV001065154]|Hereditary cancer-predisposing syndrome [RCV001015947] Chr15:90782820 [GRCh38]
Chr15:91326050 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1841C>T (p.Ala614Val) single nucleotide variant Bloom syndrome [RCV001062722]|Hereditary cancer-predisposing syndrome [RCV002411579]|not provided [RCV004998627] Chr15:90761214 [GRCh38]
Chr15:91304444 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90747383)_(90769596_?)dup duplication Bloom syndrome [RCV001032050] Chr15:91290613..91312826 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3496C>G (p.Gln1166Glu) single nucleotide variant Bloom syndrome [RCV001037146] Chr15:90803658 [GRCh38]
Chr15:91346888 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1708A>C (p.Ile570Leu) single nucleotide variant Bloom syndrome [RCV001044293] Chr15:90761081 [GRCh38]
Chr15:91304311 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3287G>C (p.Gly1096Ala) single nucleotide variant Bloom syndrome [RCV001044325]|Hereditary cancer-predisposing syndrome [RCV005306236] Chr15:90798266 [GRCh38]
Chr15:91341496 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu) single nucleotide variant Bloom syndrome [RCV001351569]|Hereditary cancer-predisposing syndrome [RCV001016136]|not provided [RCV002291709] Chr15:90782890 [GRCh38]
Chr15:91326120 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2661A>G (p.Pro887=) single nucleotide variant BLM-related disorder [RCV003953429]|Bloom syndrome [RCV001040335]|Hereditary cancer-predisposing syndrome [RCV001016147]|not specified [RCV001819728] Chr15:90782927 [GRCh38]
Chr15:91326157 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr) single nucleotide variant Bloom syndrome [RCV001832340]|Hereditary cancer-predisposing syndrome [RCV001016381] Chr15:90784971 [GRCh38]
Chr15:91328201 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2732A>T (p.Asp911Val) single nucleotide variant Bloom syndrome [RCV001295343]|Hereditary cancer-predisposing syndrome [RCV001016429]|not provided [RCV002264994] Chr15:90784990 [GRCh38]
Chr15:91328220 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2784T>G (p.Asp928Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016601] Chr15:90785042 [GRCh38]
Chr15:91328272 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp) single nucleotide variant Bloom syndrome [RCV001063914]|Hereditary cancer-predisposing syndrome [RCV003160523] Chr15:90798313 [GRCh38]
Chr15:91341543 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2824-2A>C single nucleotide variant Bloom syndrome [RCV001065618] Chr15:90790647 [GRCh38]
Chr15:91333877 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3317C>G (p.Ser1106Cys) single nucleotide variant Bloom syndrome [RCV001065795]|Hereditary cancer-predisposing syndrome [RCV002320333] Chr15:90798296 [GRCh38]
Chr15:91341526 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1117A>G (p.Ile373Val) single nucleotide variant Bloom syndrome [RCV001069647]|Hereditary cancer-predisposing syndrome [RCV002436680] Chr15:90760176 [GRCh38]
Chr15:91303406 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.555A>T (p.Lys185Asn) single nucleotide variant Bloom syndrome [RCV001070095]|Hereditary cancer-predisposing syndrome [RCV003293862] Chr15:90749823 [GRCh38]
Chr15:91293053 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+1G>T single nucleotide variant Bloom syndrome [RCV001071167]|Hereditary cancer-predisposing syndrome [RCV002418559] Chr15:90750068 [GRCh38]
Chr15:91293298 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.518C>A (p.Pro173His) single nucleotide variant Bloom syndrome [RCV001045884]|Hereditary cancer-predisposing syndrome [RCV005298681] Chr15:90749786 [GRCh38]
Chr15:91293016 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe) single nucleotide variant Bloom syndrome [RCV001046000]|Hereditary cancer-predisposing syndrome [RCV002372792]|not provided [RCV004783888] Chr15:90811235 [GRCh38]
Chr15:91354465 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.460T>C (p.Trp154Arg) single nucleotide variant Bloom syndrome [RCV001048926]|Hereditary cancer-predisposing syndrome [RCV004601344] Chr15:90749728 [GRCh38]
Chr15:91292958 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3020-3T>C single nucleotide variant Bloom syndrome [RCV001050114] Chr15:90794164 [GRCh38]
Chr15:91337394 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3271C>T (p.His1091Tyr) single nucleotide variant Bloom syndrome [RCV001050260]|Hereditary cancer-predisposing syndrome [RCV002445266] Chr15:90798250 [GRCh38]
Chr15:91341480 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2823+4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016695] Chr15:90785085 [GRCh38]
Chr15:91328315 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2829C>G (p.Ile943Met) single nucleotide variant Bloom syndrome [RCV001832341]|Hereditary cancer-predisposing syndrome [RCV001016707] Chr15:90790654 [GRCh38]
Chr15:91333884 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile) single nucleotide variant Bloom syndrome [RCV001349615]|Hereditary cancer-predisposing syndrome [RCV001011472] Chr15:90760785 [GRCh38]
Chr15:91304015 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1420C>T (p.Leu474=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011504] Chr15:90760793 [GRCh38]
Chr15:91304023 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1497C>A (p.Ser499=) single nucleotide variant Bloom syndrome [RCV001463017]|Hereditary cancer-predisposing syndrome [RCV001011789] Chr15:90760870 [GRCh38]
Chr15:91304100 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2938G>A (p.Ala980Thr) single nucleotide variant Bloom syndrome [RCV002550831]|Hereditary cancer-predisposing syndrome [RCV001017573] Chr15:90790763 [GRCh38]
Chr15:91333993 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys) single nucleotide variant Bloom syndrome [RCV003388842]|Hereditary cancer-predisposing syndrome [RCV001017622] Chr15:90790770 [GRCh38]
Chr15:91334000 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser) single nucleotide variant Bloom syndrome [RCV001229125]|Hereditary cancer-predisposing syndrome [RCV001017737] Chr15:90790800 [GRCh38]
Chr15:91334030 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3005A>C (p.Lys1002Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017997] Chr15:90790830 [GRCh38]
Chr15:91334060 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3005A>G (p.Lys1002Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017998] Chr15:90790830 [GRCh38]
Chr15:91334060 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.193G>A (p.Val65Ile) single nucleotide variant Bloom syndrome [RCV001223053] Chr15:90749461 [GRCh38]
Chr15:91292691 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro) single nucleotide variant Bloom syndrome [RCV001302476]|Hereditary cancer-predisposing syndrome [RCV001012131] Chr15:90760925 [GRCh38]
Chr15:91304155 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) single nucleotide variant Bloom syndrome [RCV002550917]|Hereditary cancer-predisposing syndrome [RCV001025562] Chr15:90749938 [GRCh38]
Chr15:91293168 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3020-4_3020-3del deletion Bloom syndrome [RCV003505158]|Hereditary cancer-predisposing syndrome [RCV001018075] Chr15:90794161..90794162 [GRCh38]
Chr15:91337391..91337392 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.863G>C (p.Cys288Ser) single nucleotide variant Bloom syndrome [RCV001860893]|Hereditary cancer-predisposing syndrome [RCV001018115]|not provided [RCV004998552] Chr15:90751850 [GRCh38]
Chr15:91295080 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3055_3058del (p.His1019fs) deletion Hereditary cancer-predisposing syndrome [RCV001018333] Chr15:90794199..90794202 [GRCh38]
Chr15:91337429..91337432 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.880G>A (p.Asp294Asn) single nucleotide variant Bloom syndrome [RCV005056766]|Hereditary cancer-predisposing syndrome [RCV001018373] Chr15:90751867 [GRCh38]
Chr15:91295097 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1784C>T (p.Ser595Leu) single nucleotide variant Bloom syndrome [RCV001223885] Chr15:90761157 [GRCh38]
Chr15:91304387 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1620A>G (p.Ile540Met) single nucleotide variant Bloom syndrome [RCV003614065]|Hereditary cancer-predisposing syndrome [RCV001012462] Chr15:90760993 [GRCh38]
Chr15:91304223 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr) single nucleotide variant Bloom syndrome [RCV001326396]|Hereditary cancer-predisposing syndrome [RCV001018564] Chr15:90794241 [GRCh38]
Chr15:91337471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.309A>T (p.Gly103=) single nucleotide variant Bloom syndrome [RCV003614069]|Hereditary cancer-predisposing syndrome [RCV001018606] Chr15:90749577 [GRCh38]
Chr15:91292807 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3137G>T (p.Gly1046Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018782] Chr15:90794284 [GRCh38]
Chr15:91337514 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.-5+295G>C single nucleotide variant not provided [RCV001669011] Chr15:90717735 [GRCh38]
Chr15:91260966 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2824-129del deletion not provided [RCV001647662] Chr15:90790520 [GRCh38]
Chr15:91333750 [GRCh37]
Chr15:15q26.1		 benign
NC_000015.10:g.90717122T>G single nucleotide variant not provided [RCV001708232] Chr15:90717122 [GRCh38]
Chr15:91260353 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2663-310C>T single nucleotide variant not provided [RCV001684661] Chr15:90784611 [GRCh38]
Chr15:91327841 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1228C>G (p.Leu410Val) single nucleotide variant Bloom syndrome [RCV001245102]|Hereditary cancer-predisposing syndrome [RCV001010440] Chr15:90760601 [GRCh38]
Chr15:91303831 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+33G>T single nucleotide variant not provided [RCV001586626] Chr15:90747523 [GRCh38]
Chr15:91290753 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-277G>A single nucleotide variant not provided [RCV001583273] Chr15:90759870 [GRCh38]
Chr15:91303100 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.138T>G (p.Asn46Lys) single nucleotide variant Bloom syndrome [RCV001051814]|Hereditary cancer-predisposing syndrome [RCV002393260] Chr15:90749406 [GRCh38]
Chr15:91292636 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4234C>G (p.Pro1412Ala) single nucleotide variant Bloom syndrome [RCV001053557] Chr15:90815259 [GRCh38]
Chr15:91358489 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556G>T (p.Val852=) single nucleotide variant Bloom syndrome [RCV001054976]|Hereditary cancer-predisposing syndrome [RCV002436616]|not specified [RCV001819780] Chr15:90782822 [GRCh38]
Chr15:91326052 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.2630A>G (p.Asp877Gly) single nucleotide variant Bloom syndrome [RCV001059018]|Hereditary cancer-predisposing syndrome [RCV002427455]|Microcephaly [RCV001252873] Chr15:90782896 [GRCh38]
Chr15:91326126 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1958A>C (p.Lys653Thr) single nucleotide variant Bloom syndrome [RCV001059106] Chr15:90763041 [GRCh38]
Chr15:91306271 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) deletion Bloom syndrome [RCV001062518]|Hereditary cancer-predisposing syndrome [RCV002402442]|not provided [RCV004726852] Chr15:90761002..90761005 [GRCh38]
Chr15:91304232..91304235 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3020-311G>T single nucleotide variant not provided [RCV001714090] Chr15:90793856 [GRCh38]
Chr15:91337086 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr) single nucleotide variant Bloom syndrome [RCV001065475]|Hereditary cancer-predisposing syndrome [RCV002418540] Chr15:90763137 [GRCh38]
Chr15:91306367 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3017T>A (p.Met1006Lys) single nucleotide variant Bloom syndrome [RCV001559218]|Hereditary cancer-predisposing syndrome [RCV002440797] Chr15:90790842 [GRCh38]
Chr15:91334072 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe) single nucleotide variant Bloom syndrome [RCV002560174]|Hereditary cancer-predisposing syndrome [RCV002451406]|not specified [RCV001194355] Chr15:90803613 [GRCh38]
Chr15:91346843 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1526C>T (p.Pro509Leu) single nucleotide variant Bloom syndrome [RCV001223718] Chr15:90760899 [GRCh38]
Chr15:91304129 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.467A>G (p.Asp156Gly) single nucleotide variant Bloom syndrome [RCV001226762]|Hereditary cancer-predisposing syndrome [RCV002339617] Chr15:90749735 [GRCh38]
Chr15:91292965 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2620G>A (p.Val874Met) single nucleotide variant Bloom syndrome [RCV001226857]|Hereditary cancer-predisposing syndrome [RCV002429963] Chr15:90782886 [GRCh38]
Chr15:91326116 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2283A>T (p.Lys761Asn) single nucleotide variant Bloom syndrome [RCV001211461] Chr15:90766999 [GRCh38]
Chr15:91310229 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1008C>T (p.Ser336=) single nucleotide variant Bloom syndrome [RCV001402293]|Hereditary cancer-predisposing syndrome [RCV001009680] Chr15:90754859 [GRCh38]
Chr15:91298089 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3457A>G (p.Lys1153Glu) single nucleotide variant Bloom syndrome [RCV001234217] Chr15:90803619 [GRCh38]
Chr15:91346849 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del) microsatellite Bloom syndrome [RCV001235338]|Hereditary cancer-predisposing syndrome [RCV003166451] Chr15:90749900..90749902 [GRCh38]
Chr15:91293130..91293132 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3764C>G (p.Ser1255Cys) single nucleotide variant Bloom syndrome [RCV001236225] Chr15:90809149 [GRCh38]
Chr15:91352379 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2553G>T (p.Gln851His) single nucleotide variant Bloom syndrome [RCV001231096]|Hereditary cancer-predisposing syndrome [RCV005298745] Chr15:90769584 [GRCh38]
Chr15:91312814 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1595A>G (p.Asp532Gly) single nucleotide variant Bloom syndrome [RCV001236603] Chr15:90760968 [GRCh38]
Chr15:91304198 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1565del (p.Gly522fs) deletion Bloom syndrome [RCV001237756] Chr15:90760937 [GRCh38]
Chr15:91304167 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2038C>T (p.Leu680=) single nucleotide variant Bloom syndrome [RCV002068881]|Hereditary cancer-predisposing syndrome [RCV001014153] Chr15:90763121 [GRCh38]
Chr15:91306351 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1045A>G (p.Ser349Gly) single nucleotide variant Bloom syndrome [RCV001232706] Chr15:90754896 [GRCh38]
Chr15:91298126 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.521A>G (p.Gln174Arg) single nucleotide variant Bloom syndrome [RCV001233307]|Hereditary cancer-predisposing syndrome [RCV002339641] Chr15:90749789 [GRCh38]
Chr15:91293019 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.142T>A (p.Ser48Thr) single nucleotide variant Bloom syndrome [RCV001233520]|Hereditary cancer-predisposing syndrome [RCV003284091] Chr15:90749410 [GRCh38]
Chr15:91292640 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) single nucleotide variant Bloom syndrome [RCV001238842]|not provided [RCV003227015] Chr15:90766937 [GRCh38]
Chr15:91310167 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.-59T>A single nucleotide variant Bloom syndrome [RCV001120408] Chr15:90717386 [GRCh38]
Chr15:91260617 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2114T>A (p.Val705Asp) single nucleotide variant Bloom syndrome [RCV001860764]|Hereditary cancer-predisposing syndrome [RCV001014510] Chr15:90765335 [GRCh38]
Chr15:91308565 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1376C>A (p.Pro459His) single nucleotide variant Bloom syndrome [RCV001233998]|Hereditary cancer-predisposing syndrome [RCV002379892] Chr15:90760749 [GRCh38]
Chr15:91303979 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.262G>C (p.Asp88His) single nucleotide variant Bloom syndrome [RCV001234066]|Hereditary cancer-predisposing syndrome [RCV002430002] Chr15:90749530 [GRCh38]
Chr15:91292760 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.46C>G (p.His16Asp) single nucleotide variant Bloom syndrome [RCV001235189] Chr15:90747438 [GRCh38]
Chr15:91290668 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val) single nucleotide variant Bloom syndrome [RCV001240659]|Hereditary cancer-predisposing syndrome [RCV002436949] Chr15:90794170 [GRCh38]
Chr15:91337400 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly) single nucleotide variant Bloom syndrome [RCV001240833]|Hereditary cancer-predisposing syndrome [RCV003166503] Chr15:90785041 [GRCh38]
Chr15:91328271 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr) single nucleotide variant Bloom syndrome [RCV002550756]|Hereditary cancer-predisposing syndrome [RCV001010093] Chr15:90760228 [GRCh38]
Chr15:91303458 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2193+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014689] Chr15:90765415 [GRCh38]
Chr15:91308645 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2211G>C (p.Leu737=) single nucleotide variant Bloom syndrome [RCV001120216]|Hereditary cancer-predisposing syndrome [RCV001014805] Chr15:90766927 [GRCh38]
Chr15:91310157 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.960-1G>T single nucleotide variant Bloom syndrome [RCV001236569]|Hereditary cancer-predisposing syndrome [RCV004033316] Chr15:90754810 [GRCh38]
Chr15:91298040 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.497C>G (p.Ser166Ter) single nucleotide variant Bloom syndrome [RCV001241670] Chr15:90749765 [GRCh38]
Chr15:91292995 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.305G>A (p.Gly102Asp) single nucleotide variant Bloom syndrome [RCV001201449]|Hereditary cancer-predisposing syndrome [RCV002447046] Chr15:90749573 [GRCh38]
Chr15:91292803 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile) single nucleotide variant Bloom syndrome [RCV001242527]|Hereditary cancer-predisposing syndrome [RCV002322151] Chr15:90798286 [GRCh38]
Chr15:91341516 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3239A>C (p.Asp1080Ala) single nucleotide variant Bloom syndrome [RCV001237626]|Hereditary cancer-predisposing syndrome [RCV002447187] Chr15:90798218 [GRCh38]
Chr15:91341448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3014T>A (p.Ile1005Lys) single nucleotide variant Bloom syndrome [RCV001238321]|Hereditary cancer-predisposing syndrome [RCV002436937] Chr15:90790839 [GRCh38]
Chr15:91334069 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2447T>A (p.Met816Lys) single nucleotide variant Bloom syndrome [RCV001239638]|Hereditary cancer-predisposing syndrome [RCV002447194] Chr15:90769478 [GRCh38]
Chr15:91312708 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val) single nucleotide variant Bloom syndrome [RCV001239768]|Hereditary cancer-predisposing syndrome [RCV002322142] Chr15:90811391 [GRCh38]
Chr15:91354621 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1278A>C (p.Ser426=) single nucleotide variant Bloom syndrome [RCV001408097]|Hereditary cancer-predisposing syndrome [RCV001010711] Chr15:90760651 [GRCh38]
Chr15:91303881 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) microsatellite Bloom syndrome [RCV001211746]|Hereditary cancer-predisposing syndrome [RCV002463788] Chr15:90769223..90769226 [GRCh38]
Chr15:91312453..91312456 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1305T>G (p.Leu435=) single nucleotide variant Bloom syndrome [RCV001836065]|Hereditary cancer-predisposing syndrome [RCV001010881] Chr15:90760678 [GRCh38]
Chr15:91303908 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3367A>C (p.Ser1123Arg) single nucleotide variant Bloom syndrome [RCV001241917] Chr15:90803529 [GRCh38]
Chr15:91346759 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer) deletion Bloom syndrome [RCV001214968] Chr15:90749706..90749709 [GRCh38]
Chr15:91292936..91292939 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.605A>T (p.Asn202Ile) single nucleotide variant Bloom syndrome [RCV001862305]|Hereditary cancer-predisposing syndrome [RCV001024849] Chr15:90749873 [GRCh38]
Chr15:91293103 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.60A>T (p.Thr20=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024897] Chr15:90747452 [GRCh38]
Chr15:91290682 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1440dup (p.Ala481fs) duplication Bloom syndrome [RCV003505157]|Hereditary cancer-predisposing syndrome [RCV001011597] Chr15:90760812..90760813 [GRCh38]
Chr15:91304042..91304043 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1486T>C (p.Leu496=) single nucleotide variant Bloom syndrome [RCV002068843]|Hereditary cancer-predisposing syndrome [RCV001011825] Chr15:90760859 [GRCh38]
Chr15:91304089 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.728T>C (p.Ile243Thr) single nucleotide variant Bloom syndrome [RCV001246538]|Hereditary cancer-predisposing syndrome [RCV002379944] Chr15:90749996 [GRCh38]
Chr15:91293226 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3568A>G (p.Met1190Val) single nucleotide variant Bloom syndrome [RCV001204520]|Hereditary cancer-predisposing syndrome [RCV003163548] Chr15:90804176 [GRCh38]
Chr15:91347406 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1502T>A (p.Val501Glu) single nucleotide variant Bloom syndrome [RCV001049887]|Hereditary cancer-predisposing syndrome [RCV001011924] Chr15:90760875 [GRCh38]
Chr15:91304105 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1544A>C (p.Asn515Thr) single nucleotide variant Bloom syndrome [RCV001045377]|Hereditary cancer-predisposing syndrome [RCV001012117] Chr15:90760917 [GRCh38]
Chr15:91304147 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser) single nucleotide variant Bloom syndrome [RCV003614064]|Hereditary cancer-predisposing syndrome [RCV001012188] Chr15:90760934 [GRCh38]
Chr15:91304164 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) single nucleotide variant Bloom syndrome [RCV001418845]|Hereditary cancer-predisposing syndrome [RCV001025499] Chr15:90749932 [GRCh38]
Chr15:91293162 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.1578A>C (p.Thr526=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012247] Chr15:90760951 [GRCh38]
Chr15:91304181 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3298A>C (p.Ile1100Leu) single nucleotide variant Bloom syndrome [RCV001205770] Chr15:90798277 [GRCh38]
Chr15:91341507 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2078del (p.Gly693fs) deletion Bloom syndrome [RCV001204955] Chr15:90765298 [GRCh38]
Chr15:91308528 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.865A>G (p.Ile289Val) single nucleotide variant Bloom syndrome [RCV001227052]|Hereditary cancer-predisposing syndrome [RCV004032591] Chr15:90751852 [GRCh38]
Chr15:91295082 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.703G>A (p.Val235Met) single nucleotide variant Bloom syndrome [RCV001222304]|Hereditary cancer-predisposing syndrome [RCV001025961] Chr15:90749971 [GRCh38]
Chr15:91293201 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser) single nucleotide variant Bloom syndrome [RCV001860726]|Hereditary cancer-predisposing syndrome [RCV001012968] Chr15:90761120 [GRCh38]
Chr15:91304350 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3116T>A (p.Ile1039Lys) single nucleotide variant Bloom syndrome [RCV001204297] Chr15:90794263 [GRCh38]
Chr15:91337493 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu) single nucleotide variant Bloom syndrome [RCV001247829]|Hereditary cancer-predisposing syndrome [RCV002451614] Chr15:90784983 [GRCh38]
Chr15:91328213 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1797A>G (p.Arg599=) single nucleotide variant Bloom syndrome [RCV001504078]|Hereditary cancer-predisposing syndrome [RCV001013125] Chr15:90761170 [GRCh38]
Chr15:91304400 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) single nucleotide variant Bloom syndrome [RCV001832335]|Hereditary cancer-predisposing syndrome [RCV001013170] Chr15:90761157 [GRCh38]
Chr15:91304387 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1786G>A (p.Val596Ile) single nucleotide variant Bloom syndrome [RCV001276025]|Hereditary cancer-predisposing syndrome [RCV001013179] Chr15:90761159 [GRCh38]
Chr15:91304389 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.742A>T (p.Ile248Leu) single nucleotide variant Bloom syndrome [RCV001350625]|Hereditary cancer-predisposing syndrome [RCV001026423] Chr15:90750010 [GRCh38]
Chr15:91293240 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3013_3019+4del deletion Bloom syndrome [RCV001217257] Chr15:90790838..90790848 [GRCh38]
Chr15:91334068..91334078 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala) single nucleotide variant Bloom syndrome [RCV001218103]|Hereditary cancer-predisposing syndrome [RCV002411810] Chr15:90761252 [GRCh38]
Chr15:91304482 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.18A>G (p.Gln6=) single nucleotide variant Bloom syndrome [RCV001371019]|Hereditary cancer-predisposing syndrome [RCV001013605] Chr15:90747410 [GRCh38]
Chr15:91290640 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.792T>C (p.Asp264=) single nucleotide variant Bloom syndrome [RCV001477649]|Hereditary cancer-predisposing syndrome [RCV001026967] Chr15:90750060 [GRCh38]
Chr15:91293290 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.972C>T (p.Asp324=) single nucleotide variant Bloom syndrome [RCV003505160]|Hereditary cancer-predisposing syndrome [RCV001019684]|not specified [RCV001819731] Chr15:90754823 [GRCh38]
Chr15:91298053 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3210+2dup duplication Bloom syndrome [RCV001827197]|Hereditary cancer-predisposing syndrome [RCV001019263]|not provided [RCV002282427] Chr15:90794358..90794359 [GRCh38]
Chr15:91337588..91337589 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1977T>C (p.Phe659=) single nucleotide variant Bloom syndrome [RCV002068879]|Hereditary cancer-predisposing syndrome [RCV001013934] Chr15:90763060 [GRCh38]
Chr15:91306290 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-2A>G single nucleotide variant Bloom syndrome [RCV001224424] Chr15:90751785 [GRCh38]
Chr15:91295015 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr) single nucleotide variant Bloom syndrome [RCV001832350]|Hereditary breast ovarian cancer syndrome [RCV001030461]|Hereditary cancer-predisposing syndrome [RCV001021333] Chr15:90809259 [GRCh38]
Chr15:91352489 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1123G>C (p.Val375Leu) single nucleotide variant Bloom syndrome [RCV001070931]|Hereditary cancer-predisposing syndrome [RCV001009926]|not provided [RCV002293497] Chr15:90760182 [GRCh38]
Chr15:91303412 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2117C>T (p.Ser706Phe) single nucleotide variant Bloom syndrome [RCV001068954]|Hereditary cancer-predisposing syndrome [RCV001014316] Chr15:90765338 [GRCh38]
Chr15:91308568 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2075-1G>A single nucleotide variant Bloom syndrome [RCV001068255]|Hereditary cancer-predisposing syndrome [RCV001014335] Chr15:90765295 [GRCh38]
Chr15:91308525 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1345T>A (p.Ser449Thr) single nucleotide variant Bloom syndrome [RCV001235304] Chr15:90760718 [GRCh38]
Chr15:91303948 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1221A>G (p.Arg407=) single nucleotide variant Bloom syndrome [RCV001235680] Chr15:90760594 [GRCh38]
Chr15:91303824 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.662C>A (p.Thr221Asn) single nucleotide variant Bloom syndrome [RCV001236993]|Hereditary cancer-predisposing syndrome [RCV004951406] Chr15:90749930 [GRCh38]
Chr15:91293160 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) single nucleotide variant Bloom syndrome [RCV001224607]|Hereditary cancer-predisposing syndrome [RCV002429952]|not provided [RCV002225809] Chr15:90784960 [GRCh38]
Chr15:91328190 [GRCh37]
Chr15:15q26.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.3951G>A (p.Glu1317=) single nucleotide variant Bloom syndrome [RCV001421054]|Hereditary cancer-predisposing syndrome [RCV001021505] Chr15:90811281 [GRCh38]
Chr15:91354511 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4011A>G (p.Lys1337=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021657] Chr15:90811341 [GRCh38]
Chr15:91354571 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4191G>A (p.Gly1397=) single nucleotide variant Bloom syndrome [RCV001432548]|Hereditary cancer-predisposing syndrome [RCV001022015] Chr15:90815216 [GRCh38]
Chr15:91358446 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3538G>A (p.Val1180Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020553] Chr15:90803700 [GRCh38]
Chr15:91346930 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2205A>T (p.Thr735=) single nucleotide variant Bloom syndrome [RCV003769468]|Hereditary cancer-predisposing syndrome [RCV001014721] Chr15:90766921 [GRCh38]
Chr15:91310151 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.190G>C (p.Asp64His) single nucleotide variant Bloom syndrome [RCV001205505]|Hereditary cancer-predisposing syndrome [RCV002411755] Chr15:90749458 [GRCh38]
Chr15:91292688 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2276T>A (p.Ile759Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015026] Chr15:90766992 [GRCh38]
Chr15:91310222 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2277C>T (p.Ile759=) single nucleotide variant Bloom syndrome [RCV001391741]|Hereditary cancer-predisposing syndrome [RCV001015029] Chr15:90766993 [GRCh38]
Chr15:91310223 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2308-5C>T single nucleotide variant Bloom syndrome [RCV001276026]|Hereditary cancer-predisposing syndrome [RCV001015151] Chr15:90769128 [GRCh38]
Chr15:91312358 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn) single nucleotide variant Bloom syndrome [RCV001275697]|Hereditary cancer-predisposing syndrome [RCV001015260]|Ovarian cancer [RCV003153885] Chr15:90769175 [GRCh38]
Chr15:91312405 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.3591T>C (p.Ser1197=) single nucleotide variant Bloom syndrome [RCV001493404]|Hereditary cancer-predisposing syndrome [RCV001020676] Chr15:90804199 [GRCh38]
Chr15:91347429 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.985G>C (p.Asp329His) single nucleotide variant Bloom syndrome [RCV001203373]|Hereditary cancer-predisposing syndrome [RCV002379766]|not provided [RCV004998718] Chr15:90754836 [GRCh38]
Chr15:91298066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1137C>G (p.Ile379Met) single nucleotide variant Bloom syndrome [RCV001203832]|Hereditary cancer-predisposing syndrome [RCV002322004] Chr15:90760196 [GRCh38]
Chr15:91303426 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu) single nucleotide variant Bloom syndrome [RCV001056497]|Hereditary cancer-predisposing syndrome [RCV001015521] Chr15:90769465 [GRCh38]
Chr15:91312695 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.700_710del (p.Asp234fs) deletion Bloom syndrome [RCV001907531] Chr15:90749968..90749978 [GRCh38]
Chr15:91293198..91293208 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1238A>T (p.Glu413Val) single nucleotide variant Bloom syndrome [RCV001239381]|Hereditary cancer-predisposing syndrome [RCV001010491]|not specified [RCV001819722] Chr15:90760611 [GRCh38]
Chr15:91303841 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn) single nucleotide variant Bloom syndrome [RCV001324962]|Hereditary cancer-predisposing syndrome [RCV001015827] Chr15:90769549 [GRCh38]
Chr15:91312779 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu) single nucleotide variant Bloom syndrome [RCV001044147]|Hereditary cancer-predisposing syndrome [RCV001015905]|not provided [RCV004761872]|not specified [RCV003479264] Chr15:90769582 [GRCh38]
Chr15:91312812 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.25C>G (p.Leu9Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016066] Chr15:90747417 [GRCh38]
Chr15:91290647 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2779A>G (p.Arg927Gly) single nucleotide variant Bloom syndrome [RCV001243812] Chr15:90785037 [GRCh38]
Chr15:91328267 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala) single nucleotide variant Bloom syndrome [RCV001244730]|Hereditary cancer-predisposing syndrome [RCV002375296] Chr15:90811268 [GRCh38]
Chr15:91354498 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3458A>T (p.Lys1153Met) single nucleotide variant Bloom syndrome [RCV001206197] Chr15:90803620 [GRCh38]
Chr15:91346850 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2686C>T (p.Leu896Phe) single nucleotide variant Bloom syndrome [RCV001211352]|Hereditary cancer-predisposing syndrome [RCV001016295] Chr15:90784944 [GRCh38]
Chr15:91328174 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2717A>T (p.Asp906Val) single nucleotide variant Bloom syndrome [RCV001860825]|Hereditary cancer-predisposing syndrome [RCV001016389] Chr15:90784975 [GRCh38]
Chr15:91328205 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly) single nucleotide variant Bloom syndrome [RCV001218186]|Hereditary cancer-predisposing syndrome [RCV001016428] Chr15:90784990 [GRCh38]
Chr15:91328220 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg) single nucleotide variant Bloom syndrome [RCV001339285]|Hereditary cancer-predisposing syndrome [RCV001016621] Chr15:90785053 [GRCh38]
Chr15:91328283 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2803A>G (p.Ile935Val) single nucleotide variant Bloom syndrome [RCV001052672]|Hereditary cancer-predisposing syndrome [RCV001016624]|not provided [RCV004998547] Chr15:90785061 [GRCh38]
Chr15:91328291 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1686T>A (p.Asp562Glu) single nucleotide variant Bloom syndrome [RCV001216585]|Hereditary cancer-predisposing syndrome [RCV002411800] Chr15:90761059 [GRCh38]
Chr15:91304289 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly) single nucleotide variant Bloom syndrome [RCV001209235]|Hereditary cancer-predisposing syndrome [RCV004033764] Chr15:90794235 [GRCh38]
Chr15:91337465 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1003C>G (p.Leu335Val) single nucleotide variant Bloom syndrome [RCV001338377]|Hereditary cancer-predisposing syndrome [RCV001009646]|not provided [RCV003322838] Chr15:90754854 [GRCh38]
Chr15:91298084 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1297G>C (p.Asp433His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010820] Chr15:90760670 [GRCh38]
Chr15:91303900 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser) single nucleotide variant Bloom syndrome [RCV001827190]|Hereditary cancer-predisposing syndrome [RCV001017013]|not provided [RCV003478627] Chr15:90754876 [GRCh38]
Chr15:91298106 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1071C>G (p.Thr357=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017206] Chr15:90754922 [GRCh38]
Chr15:91298152 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2947G>T (p.Asp983Tyr) single nucleotide variant Bloom syndrome [RCV001218586]|Hereditary cancer-predisposing syndrome [RCV004601398] Chr15:90790772 [GRCh38]
Chr15:91334002 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2423G>A (p.Arg808His) single nucleotide variant Bloom syndrome [RCV001211710]|Hereditary cancer-predisposing syndrome [RCV002451460] Chr15:90769454 [GRCh38]
Chr15:91312684 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3679A>T (p.Lys1227Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020861] Chr15:90804287 [GRCh38]
Chr15:91347517 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr) single nucleotide variant Bloom syndrome [RCV001213239]|Hereditary cancer-predisposing syndrome [RCV001017474]|not provided [RCV001766839] Chr15:90760207 [GRCh38]
Chr15:91303437 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2936G>A (p.Arg979Lys) single nucleotide variant Bloom syndrome [RCV001860870]|Hereditary cancer-predisposing syndrome [RCV001017571] Chr15:90790761 [GRCh38]
Chr15:91333991 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1677T>A (p.Asp559Glu) single nucleotide variant Bloom syndrome [RCV001212984]|Hereditary cancer-predisposing syndrome [RCV002402631]|not provided [RCV005241435] Chr15:90761050 [GRCh38]
Chr15:91304280 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg) single nucleotide variant Bloom syndrome [RCV001832332]|Hereditary cancer-predisposing syndrome [RCV001011353] Chr15:90760769 [GRCh38]
Chr15:91303999 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.61C>G (p.Leu21Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024997] Chr15:90747453 [GRCh38]
Chr15:91290683 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys) single nucleotide variant Bloom syndrome [RCV001344889]|Hereditary cancer-predisposing syndrome [RCV001017788] Chr15:90790809 [GRCh38]
Chr15:91334039 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2985T>C (p.Tyr995=) single nucleotide variant Bloom syndrome [RCV001498830]|Hereditary cancer-predisposing syndrome [RCV001017794] Chr15:90790810 [GRCh38]
Chr15:91334040 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr) single nucleotide variant Bloom syndrome [RCV001213067]|Hereditary cancer-predisposing syndrome [RCV001017872] Chr15:90790824 [GRCh38]
Chr15:91334054 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3862T>C (p.Trp1288Arg) single nucleotide variant Bloom syndrome [RCV001228351] Chr15:90809247 [GRCh38]
Chr15:91352477 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2139T>G (p.Ile713Met) single nucleotide variant Bloom syndrome [RCV001228777] Chr15:90765360 [GRCh38]
Chr15:91308590 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.626C>T (p.Pro209Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025061] Chr15:90749894 [GRCh38]
Chr15:91293124 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1501G>A (p.Val501Ile) single nucleotide variant Bloom syndrome [RCV001071289]|Hereditary cancer-predisposing syndrome [RCV001011917] Chr15:90760874 [GRCh38]
Chr15:91304104 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.304G>A (p.Gly102Ser) single nucleotide variant Bloom syndrome [RCV003505159]|Hereditary cancer-predisposing syndrome [RCV001018324] Chr15:90749572 [GRCh38]
Chr15:91292802 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3056A>C (p.His1019Pro) single nucleotide variant Bloom syndrome [RCV001239564]|Hereditary cancer-predisposing syndrome [RCV001018337] Chr15:90794203 [GRCh38]
Chr15:91337433 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.886T>G (p.Tyr296Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018430] Chr15:90751873 [GRCh38]
Chr15:91295103 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.668A>G (p.Glu223Gly) single nucleotide variant Bloom syndrome [RCV001229840] Chr15:90749936 [GRCh38]
Chr15:91293166 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile) single nucleotide variant Bloom syndrome [RCV001204243]|Hereditary cancer-predisposing syndrome [RCV001012284]|not provided [RCV002284455] Chr15:90760956 [GRCh38]
Chr15:91304186 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3104A>G (p.Glu1035Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018653] Chr15:90794251 [GRCh38]
Chr15:91337481 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1619T>A (p.Ile540Lys) single nucleotide variant Bloom syndrome [RCV001315005]|Hereditary cancer-predisposing syndrome [RCV001012455] Chr15:90760992 [GRCh38]
Chr15:91304222 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1624del (p.Asp542fs) deletion BLM-related disorder [RCV004726779]|Bloom syndrome [RCV001389843]|Hereditary cancer-predisposing syndrome [RCV001012466] Chr15:90760997 [GRCh38]
Chr15:91304227 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.700_713del (p.Asp234fs) deletion Bloom syndrome [RCV001215519]|Hereditary cancer-predisposing syndrome [RCV001025911] Chr15:90749968..90749981 [GRCh38]
Chr15:91293198..91293211 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1001T>A (p.Val334Asp) single nucleotide variant Bloom syndrome [RCV001221289] Chr15:90754852 [GRCh38]
Chr15:91298082 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.284C>T (p.Ala95Val) single nucleotide variant Bloom syndrome [RCV001219714]|Hereditary cancer-predisposing syndrome [RCV004601402] Chr15:90749552 [GRCh38]
Chr15:91292782 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1734A>C (p.Lys578Asn) single nucleotide variant Bloom syndrome [RCV001230144] Chr15:90761107 [GRCh38]
Chr15:91304337 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1707C>T (p.Asp569=) single nucleotide variant Bloom syndrome [RCV001451716]|Hereditary cancer-predisposing syndrome [RCV001012757] Chr15:90761080 [GRCh38]
Chr15:91304310 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) single nucleotide variant Bloom syndrome [RCV001194354]|Hereditary cancer-predisposing syndrome [RCV001012779]|not provided [RCV004720034] Chr15:90761074 [GRCh38]
Chr15:91304304 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr) single nucleotide variant Bloom syndrome [RCV001276024]|Hereditary cancer-predisposing syndrome [RCV001012836] Chr15:90761082 [GRCh38]
Chr15:91304312 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys) single nucleotide variant Bloom syndrome [RCV001827181]|Hereditary cancer-predisposing syndrome [RCV001012955] Chr15:90761124 [GRCh38]
Chr15:91304354 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.716A>T (p.Asp239Val) single nucleotide variant Bloom syndrome [RCV001221503]|Hereditary cancer-predisposing syndrome [RCV002375204] Chr15:90749984 [GRCh38]
Chr15:91293214 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1255del (p.Ser419fs) deletion Bloom syndrome [RCV001220491] Chr15:90760625 [GRCh38]
Chr15:91303855 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2518G>C (p.Asp840His) single nucleotide variant Bloom syndrome [RCV001221136] Chr15:90769549 [GRCh38]
Chr15:91312779 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter) single nucleotide variant Bloom syndrome [RCV001256003] Chr15:90803541 [GRCh38]
Chr15:91346771 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3020-258A>G single nucleotide variant Bloom syndrome [RCV001256002] Chr15:90793909 [GRCh38]
Chr15:91337139 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1072A>C (p.Ser358Arg) single nucleotide variant Bloom syndrome [RCV001294795]|Hereditary cancer-predisposing syndrome [RCV002418884] Chr15:90754923 [GRCh38]
Chr15:91298153 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs) microsatellite Bloom syndrome [RCV001255731] Chr15:90769524..90769525 [GRCh38]
Chr15:91312754..91312755 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_000057.4(BLM):c.1715A>G (p.His572Arg) single nucleotide variant Bloom syndrome [RCV001294326]|Hereditary cancer-predisposing syndrome [RCV002402815] Chr15:90761088 [GRCh38]
Chr15:91304318 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.959+187C>T single nucleotide variant not provided [RCV001575560] Chr15:90752133 [GRCh38]
Chr15:91295363 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2875C>A (p.Arg959=) single nucleotide variant Bloom syndrome [RCV001297306] Chr15:90790700 [GRCh38]
Chr15:91333930 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.614A>G (p.Lys205Arg) single nucleotide variant Bloom syndrome [RCV001319739]|Hereditary cancer-predisposing syndrome [RCV002357144] Chr15:90749882 [GRCh38]
Chr15:91293112 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3557A>G (p.Lys1186Arg) single nucleotide variant Bloom syndrome [RCV001350723] Chr15:90803719 [GRCh38]
Chr15:91346949 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4101A>G (p.Ile1367Met) single nucleotide variant Bloom syndrome [RCV001317119] Chr15:90815126 [GRCh38]
Chr15:91358356 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.582T>A (p.Phe194Leu) single nucleotide variant Bloom syndrome [RCV001305066] Chr15:90749850 [GRCh38]
Chr15:91293080 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala) single nucleotide variant Bloom syndrome [RCV001298079]|Hereditary cancer-predisposing syndrome [RCV002393704]|not provided [RCV004998799] Chr15:90760853 [GRCh38]
Chr15:91304083 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1432G>A (p.Gly478Arg) single nucleotide variant Bloom syndrome [RCV001350489] Chr15:90760805 [GRCh38]
Chr15:91304035 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.343C>A (p.Pro115Thr) single nucleotide variant Bloom syndrome [RCV001319347]|Hereditary cancer-predisposing syndrome [RCV002456432] Chr15:90749611 [GRCh38]
Chr15:91292841 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.434C>A (p.Pro145Gln) single nucleotide variant Bloom syndrome [RCV001305142]|Hereditary cancer-predisposing syndrome [RCV004601440] Chr15:90749702 [GRCh38]
Chr15:91292932 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2596G>A (p.Val866Ile) single nucleotide variant Bloom syndrome [RCV001339063]|Hereditary cancer-predisposing syndrome [RCV005298801] Chr15:90782862 [GRCh38]
Chr15:91326092 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2459A>G (p.Lys820Arg) single nucleotide variant Bloom syndrome [RCV001317948] Chr15:90769490 [GRCh38]
Chr15:91312720 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1027T>A (p.Ser343Thr) single nucleotide variant Bloom syndrome [RCV001307514] Chr15:90754878 [GRCh38]
Chr15:91298108 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu) single nucleotide variant Bloom syndrome [RCV001350923]|Hereditary cancer-predisposing syndrome [RCV003294380] Chr15:90804225 [GRCh38]
Chr15:91347455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1114C>A (p.Leu372Ile) single nucleotide variant Bloom syndrome [RCV001337520]|Hereditary cancer-predisposing syndrome [RCV004951557] Chr15:90760173 [GRCh38]
Chr15:91303403 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2853G>T (p.Met951Ile) single nucleotide variant Bloom syndrome [RCV001303418]|Hereditary cancer-predisposing syndrome [RCV002437027] Chr15:90790678 [GRCh38]
Chr15:91333908 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3359-3C>G single nucleotide variant Bloom syndrome [RCV001305667]|Hereditary cancer-predisposing syndrome [RCV004036364] Chr15:90803518 [GRCh38]
Chr15:91346748 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1846A>T (p.Asn616Tyr) single nucleotide variant Bloom syndrome [RCV001327636] Chr15:90761219 [GRCh38]
Chr15:91304449 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.905C>T (p.Pro302Leu) single nucleotide variant Bloom syndrome [RCV001309298]|Hereditary cancer-predisposing syndrome [RCV002447320] Chr15:90751892 [GRCh38]
Chr15:91295122 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3600del (p.Lys1200fs) deletion Colorectal cancer [RCV001293817] Chr15:90804203 [GRCh38]
Chr15:91347433 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2584C>G (p.Leu862Val) single nucleotide variant Bloom syndrome [RCV001314818]|Hereditary cancer-predisposing syndrome [RCV002431893] Chr15:90782850 [GRCh38]
Chr15:91326080 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe) single nucleotide variant Bloom syndrome [RCV001305731] Chr15:90811295 [GRCh38]
Chr15:91354525 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) single nucleotide variant Bloom syndrome [RCV001321100]|Hereditary cancer-predisposing syndrome [RCV002447359]|not specified [RCV004690077] Chr15:90769438 [GRCh38]
Chr15:91312668 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2041C>T (p.Leu681Phe) single nucleotide variant Bloom syndrome [RCV001315629]|Hereditary cancer-predisposing syndrome [RCV002418956]|not provided [RCV004720850] Chr15:90763124 [GRCh38]
Chr15:91306354 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn) single nucleotide variant Bloom syndrome [RCV001294057]|Hereditary cancer-predisposing syndrome [RCV002447261] Chr15:90769143 [GRCh38]
Chr15:91312373 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2075-3C>T single nucleotide variant Bloom syndrome [RCV001314966] Chr15:90765293 [GRCh38]
Chr15:91308523 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg) single nucleotide variant Bloom syndrome [RCV001301869]|Hereditary cancer-predisposing syndrome [RCV002402839] Chr15:90760905 [GRCh38]
Chr15:91304135 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2476G>T (p.Val826Leu) single nucleotide variant Bloom syndrome [RCV001343297] Chr15:90769507 [GRCh38]
Chr15:91312737 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4087A>G (p.Thr1363Ala) single nucleotide variant Bloom syndrome [RCV001299571] Chr15:90815112 [GRCh38]
Chr15:91358342 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2345A>G (p.Asn782Ser) single nucleotide variant Bloom syndrome [RCV001302141] Chr15:90769170 [GRCh38]
Chr15:91312400 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.598A>G (p.Thr200Ala) single nucleotide variant Bloom syndrome [RCV001351477]|Hereditary cancer-predisposing syndrome [RCV002357206] Chr15:90749866 [GRCh38]
Chr15:91293096 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2996C>T (p.Thr999Ile) single nucleotide variant Bloom syndrome [RCV001296536] Chr15:90790821 [GRCh38]
Chr15:91334051 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1274G>A (p.Gly425Asp) single nucleotide variant Bloom syndrome [RCV001296690] Chr15:90760647 [GRCh38]
Chr15:91303877 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.760G>C (p.Glu254Gln) single nucleotide variant Bloom syndrome [RCV001337367] Chr15:90750028 [GRCh38]
Chr15:91293258 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2445T>G (p.Asn815Lys) single nucleotide variant Bloom syndrome [RCV001300906] Chr15:90769476 [GRCh38]
Chr15:91312706 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1071C>T (p.Thr357=) single nucleotide variant Bloom syndrome [RCV001414272]|Hereditary cancer-predisposing syndrome [RCV002420933] Chr15:90754922 [GRCh38]
Chr15:91298152 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.396G>A (p.Arg132=) single nucleotide variant Bloom syndrome [RCV001423199]|Hereditary cancer-predisposing syndrome [RCV003160696] Chr15:90749664 [GRCh38]
Chr15:91292894 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2709C>G (p.Thr903=) single nucleotide variant Bloom syndrome [RCV001414328]|Hereditary cancer-predisposing syndrome [RCV002432146] Chr15:90784967 [GRCh38]
Chr15:91328197 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+10G>C single nucleotide variant Bloom syndrome [RCV001433360] Chr15:90811416 [GRCh38]
Chr15:91354646 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1110G>A (p.Gln370=) single nucleotide variant Bloom syndrome [RCV001392514] Chr15:90760169 [GRCh38]
Chr15:91303399 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.288A>G (p.Gly96=) single nucleotide variant Bloom syndrome [RCV001392842] Chr15:90749556 [GRCh38]
Chr15:91292786 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter) single nucleotide variant Bloom syndrome [RCV001383124] Chr15:90804242 [GRCh38]
Chr15:91347472 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.574A>T (p.Asn192Tyr) single nucleotide variant Bloom syndrome [RCV001361494] Chr15:90749842 [GRCh38]
Chr15:91293072 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.980C>A (p.Thr327Asn) single nucleotide variant Bloom syndrome [RCV001361525] Chr15:90754831 [GRCh38]
Chr15:91298061 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1014A>C (p.Ser338=) single nucleotide variant Bloom syndrome [RCV001394716]|Hereditary cancer-predisposing syndrome [RCV004037753] Chr15:90754865 [GRCh38]
Chr15:91298095 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1827A>G (p.Pro609=) single nucleotide variant Bloom syndrome [RCV001396710]|Hereditary cancer-predisposing syndrome [RCV002413939] Chr15:90761200 [GRCh38]
Chr15:91304430 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3660A>G (p.Gly1220=) single nucleotide variant Bloom syndrome [RCV001396944]|Hereditary cancer-predisposing syndrome [RCV004951677] Chr15:90804268 [GRCh38]
Chr15:91347498 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.125C>T (p.Ser42Phe) single nucleotide variant Bloom syndrome [RCV001374248] Chr15:90749393 [GRCh38]
Chr15:91292623 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.865A>T (p.Ile289Phe) single nucleotide variant not provided [RCV001355727] Chr15:90751852 [GRCh38]
Chr15:91295082 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3959C>A (p.Pro1320His) single nucleotide variant Bloom syndrome [RCV001370065] Chr15:90811289 [GRCh38]
Chr15:91354519 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2940T>G (p.Ala980=) single nucleotide variant Bloom syndrome [RCV001391803]|Hereditary cancer-predisposing syndrome [RCV002438894]|not provided [RCV003394027] Chr15:90790765 [GRCh38]
Chr15:91333995 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1275C>A (p.Gly425=) single nucleotide variant Bloom syndrome [RCV001391808]|Hereditary cancer-predisposing syndrome [RCV004037712] Chr15:90760648 [GRCh38]
Chr15:91303878 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.493A>T (p.Thr165Ser) single nucleotide variant Bloom syndrome [RCV001368358]|Hereditary cancer-predisposing syndrome [RCV002350707] Chr15:90749761 [GRCh38]
Chr15:91292991 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1125G>A (p.Val375=) single nucleotide variant Bloom syndrome [RCV001422752] Chr15:90760184 [GRCh38]
Chr15:91303414 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.-4-2A>T single nucleotide variant Bloom syndrome [RCV001279092] Chr15:90747387 [GRCh38]
Chr15:91290617 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2308-9C>T single nucleotide variant Bloom syndrome [RCV001414788] Chr15:90769124 [GRCh38]
Chr15:91312354 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3315T>C (p.Pro1105=) single nucleotide variant Bloom syndrome [RCV001433645]|Hereditary cancer-predisposing syndrome [RCV002322456] Chr15:90798294 [GRCh38]
Chr15:91341524 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2392C>G (p.His798Asp) single nucleotide variant Bloom syndrome [RCV001296255]|Hereditary cancer-predisposing syndrome [RCV002451655] Chr15:90769217 [GRCh38]
Chr15:91312447 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.518C>G (p.Pro173Arg) single nucleotide variant Bloom syndrome [RCV001314881]|Hereditary cancer-predisposing syndrome [RCV004951503] Chr15:90749786 [GRCh38]
Chr15:91293016 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr) single nucleotide variant Bloom syndrome [RCV001316835]|Hereditary cancer-predisposing syndrome [RCV002322228] Chr15:90815127 [GRCh38]
Chr15:91358357 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.10G>A (p.Val4Ile) single nucleotide variant Bloom syndrome [RCV001359717] Chr15:90747402 [GRCh38]
Chr15:91290632 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3468T>A (p.Asp1156Glu) single nucleotide variant Bloom syndrome [RCV001325881] Chr15:90803630 [GRCh38]
Chr15:91346860 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2539A>T (p.Ile847Phe) single nucleotide variant Bloom syndrome [RCV001369415]|Hereditary cancer-predisposing syndrome [RCV002432037] Chr15:90769570 [GRCh38]
Chr15:91312800 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val) single nucleotide variant Bloom syndrome [RCV001302808]|Hereditary cancer-predisposing syndrome [RCV002451678] Chr15:90803550 [GRCh38]
Chr15:91346780 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3871C>A (p.Pro1291Thr) single nucleotide variant Bloom syndrome [RCV001371127] Chr15:90809256 [GRCh38]
Chr15:91352486 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1532T>A (p.Leu511Gln) single nucleotide variant Bloom syndrome [RCV001371280] Chr15:90760905 [GRCh38]
Chr15:91304135 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys) single nucleotide variant Bloom syndrome [RCV001370162]|Hereditary cancer-predisposing syndrome [RCV002447485] Chr15:90766970 [GRCh38]
Chr15:91310200 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.876T>C (p.Asp292=) single nucleotide variant Bloom syndrome [RCV001433676] Chr15:90751863 [GRCh38]
Chr15:91295093 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.122C>T (p.Thr41Ile) single nucleotide variant Bloom syndrome [RCV001361883]|Hereditary cancer-predisposing syndrome [RCV002377513] Chr15:90749390 [GRCh38]
Chr15:91292620 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3012T>C (p.Leu1004=) single nucleotide variant Bloom syndrome [RCV001415048]|Hereditary cancer-predisposing syndrome [RCV003298689] Chr15:90790837 [GRCh38]
Chr15:91334067 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.632C>T (p.Pro211Leu) single nucleotide variant Bloom syndrome [RCV001372877]|Hereditary cancer-predisposing syndrome [RCV002357271] Chr15:90749900 [GRCh38]
Chr15:91293130 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2662+3G>A single nucleotide variant Bloom syndrome [RCV001362666] Chr15:90782931 [GRCh38]
Chr15:91326161 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala) single nucleotide variant Bloom syndrome [RCV001303904]|Hereditary cancer-predisposing syndrome [RCV002437029] Chr15:90790754 [GRCh38]
Chr15:91333984 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg) single nucleotide variant Bloom syndrome [RCV001349441]|Ovarian cancer [RCV003154008] Chr15:90761217 [GRCh38]
Chr15:91304447 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.1995G>C (p.Leu665=) single nucleotide variant Bloom syndrome [RCV001423162] Chr15:90763078 [GRCh38]
Chr15:91306308 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1871A>G (p.Gln624Arg) single nucleotide variant Bloom syndrome [RCV001372046]|Hereditary cancer-predisposing syndrome [RCV002413892] Chr15:90761244 [GRCh38]
Chr15:91304474 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3109A>G (p.Arg1037Gly) single nucleotide variant Bloom syndrome [RCV001373156] Chr15:90794256 [GRCh38]
Chr15:91337486 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr) single nucleotide variant Bloom syndrome [RCV001341830]|Hereditary cancer-predisposing syndrome [RCV003294344] Chr15:90769206 [GRCh38]
Chr15:91312436 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr) single nucleotide variant Bloom syndrome [RCV001341879]|Hereditary cancer-predisposing syndrome [RCV002259107] Chr15:90790718 [GRCh38]
Chr15:91333948 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2789T>G (p.Val930Gly) single nucleotide variant Bloom syndrome [RCV001364015]|Hereditary cancer-predisposing syndrome [RCV002438844] Chr15:90785047 [GRCh38]
Chr15:91328277 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe) single nucleotide variant Bloom syndrome [RCV001364115]|Hereditary cancer-predisposing syndrome [RCV003169828] Chr15:90790809 [GRCh38]
Chr15:91334039 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.50C>T (p.Ser17Leu) single nucleotide variant Bloom syndrome [RCV001364605] Chr15:90747442 [GRCh38]
Chr15:91290672 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4121C>T (p.Ser1374Phe) single nucleotide variant Bloom syndrome [RCV001340558] Chr15:90815146 [GRCh38]
Chr15:91358376 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3752-7T>G single nucleotide variant Bloom syndrome [RCV001343577] Chr15:90809130 [GRCh38]
Chr15:91352360 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3035A>G (p.Asn1012Ser) single nucleotide variant Bloom syndrome [RCV001344751] Chr15:90794182 [GRCh38]
Chr15:91337412 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.265T>A (p.Phe89Ile) single nucleotide variant Bloom syndrome [RCV001346450] Chr15:90749533 [GRCh38]
Chr15:91292763 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2165A>G (p.Asp722Gly) single nucleotide variant Bloom syndrome [RCV001373710] Chr15:90765386 [GRCh38]
Chr15:91308616 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.454A>G (p.Asn152Asp) single nucleotide variant Bloom syndrome [RCV001364803]|Hereditary cancer-predisposing syndrome [RCV004036924] Chr15:90749722 [GRCh38]
Chr15:91292952 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1369C>T (p.His457Tyr) single nucleotide variant Bloom syndrome [RCV001348898]|Hereditary cancer-predisposing syndrome [RCV002384486] Chr15:90760742 [GRCh38]
Chr15:91303972 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys) single nucleotide variant Bloom syndrome [RCV001295905]|Hereditary cancer-predisposing syndrome [RCV003166647] Chr15:90761092 [GRCh38]
Chr15:91304322 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe) single nucleotide variant Bloom syndrome [RCV001339814]|Hereditary cancer-predisposing syndrome [RCV003355406] Chr15:90760676 [GRCh38]
Chr15:91303906 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.568A>G (p.Lys190Glu) single nucleotide variant Bloom syndrome [RCV001318590] Chr15:90749836 [GRCh38]
Chr15:91293066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1258G>C (p.Asp420His) single nucleotide variant Bloom syndrome [RCV001342026]|Hereditary cancer-predisposing syndrome [RCV003294346] Chr15:90760631 [GRCh38]
Chr15:91303861 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.833C>T (p.Ala278Val) single nucleotide variant Bloom syndrome [RCV001323904] Chr15:90751820 [GRCh38]
Chr15:91295050 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1237G>C (p.Glu413Gln) single nucleotide variant Bloom syndrome [RCV001360377] Chr15:90760610 [GRCh38]
Chr15:91303840 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2137A>G (p.Ile713Val) single nucleotide variant Bloom syndrome [RCV001371305] Chr15:90765358 [GRCh38]
Chr15:91308588 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu) single nucleotide variant Bloom syndrome [RCV001364890]|Hereditary cancer-predisposing syndrome [RCV004601479] Chr15:90769184 [GRCh38]
Chr15:91312414 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3227A>T (p.Asp1076Val) single nucleotide variant Bloom syndrome [RCV001350950]|Hereditary cancer-predisposing syndrome [RCV005298811] Chr15:90798206 [GRCh38]
Chr15:91341436 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp) indel Bloom syndrome [RCV001350951]|Hereditary cancer-predisposing syndrome [RCV004036640] Chr15:90761054..90761055 [GRCh38]
Chr15:91304284..91304285 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.517C>A (p.Pro173Thr) single nucleotide variant Bloom syndrome [RCV001306545]|Hereditary cancer-predisposing syndrome [RCV002341611] Chr15:90749785 [GRCh38]
Chr15:91293015 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2702G>T (p.Cys901Phe) single nucleotide variant Bloom syndrome [RCV001301553] Chr15:90784960 [GRCh38]
Chr15:91328190 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2894C>G (p.Ser965Cys) single nucleotide variant Bloom syndrome [RCV001320138]|Hereditary cancer-predisposing syndrome [RCV002438729] Chr15:90790719 [GRCh38]
Chr15:91333949 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2776G>T (p.Ala926Ser) single nucleotide variant Bloom syndrome [RCV001322996] Chr15:90785034 [GRCh38]
Chr15:91328264 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1037A>C (p.Glu346Ala) single nucleotide variant Bloom syndrome [RCV001346695] Chr15:90754888 [GRCh38]
Chr15:91298118 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1073G>T (p.Ser358Ile) single nucleotide variant Bloom syndrome [RCV001360620] Chr15:90754924 [GRCh38]
Chr15:91298154 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1349T>A (p.Met450Lys) single nucleotide variant Bloom syndrome [RCV001371610] Chr15:90760722 [GRCh38]
Chr15:91303952 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile) single nucleotide variant Bloom syndrome [RCV001325436]|Hereditary cancer-predisposing syndrome [RCV004609767] Chr15:90809226 [GRCh38]
Chr15:91352456 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2086A>G (p.Ser696Gly) single nucleotide variant Bloom syndrome [RCV001315759]|Hereditary cancer-predisposing syndrome [RCV003375209] Chr15:90765307 [GRCh38]
Chr15:91308537 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.434C>G (p.Pro145Arg) single nucleotide variant Bloom syndrome [RCV001317801] Chr15:90749702 [GRCh38]
Chr15:91292932 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3419A>G (p.His1140Arg) single nucleotide variant Bloom syndrome [RCV001340784] Chr15:90803581 [GRCh38]
Chr15:91346811 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.587C>A (p.Ala196Glu) single nucleotide variant Bloom syndrome [RCV001360913] Chr15:90749855 [GRCh38]
Chr15:91293085 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3211-3T>C single nucleotide variant Bloom syndrome [RCV001360920]|Hereditary cancer-predisposing syndrome [RCV002322318] Chr15:90798187 [GRCh38]
Chr15:91341417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln) single nucleotide variant Bloom syndrome [RCV001370304]|Hereditary cancer-predisposing syndrome [RCV004037467] Chr15:90782874 [GRCh38]
Chr15:91326104 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.615G>T (p.Lys205Asn) single nucleotide variant Bloom syndrome [RCV001326664]|Hereditary cancer-predisposing syndrome [RCV004035212] Chr15:90749883 [GRCh38]
Chr15:91293113 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3043A>G (p.Thr1015Ala) single nucleotide variant Bloom syndrome [RCV001298081]|Hereditary cancer-predisposing syndrome [RCV004951458] Chr15:90794190 [GRCh38]
Chr15:91337420 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr) single nucleotide variant Bloom syndrome [RCV001323100]|Hereditary cancer-predisposing syndrome [RCV002412033] Chr15:90761046 [GRCh38]
Chr15:91304276 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.701A>T (p.Asp234Val) single nucleotide variant Bloom syndrome [RCV001345962] Chr15:90749969 [GRCh38]
Chr15:91293199 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1346C>A (p.Ser449Tyr) single nucleotide variant Bloom syndrome [RCV001360989]|Hereditary cancer-predisposing syndrome [RCV002384508] Chr15:90760719 [GRCh38]
Chr15:91303949 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3233C>G (p.Thr1078Ser) single nucleotide variant Bloom syndrome [RCV001345027] Chr15:90798212 [GRCh38]
Chr15:91341442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3381G>T (p.Gln1127His) single nucleotide variant Bloom syndrome [RCV001372175] Chr15:90803543 [GRCh38]
Chr15:91346773 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2987A>G (p.His996Arg) single nucleotide variant Bloom syndrome [RCV001372217]|Hereditary cancer-predisposing syndrome [RCV002438871] Chr15:90790812 [GRCh38]
Chr15:91334042 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.370A>C (p.Asn124His) single nucleotide variant Bloom syndrome [RCV001371064] Chr15:90749638 [GRCh38]
Chr15:91292868 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1109A>C (p.Gln370Pro) single nucleotide variant Bloom syndrome [RCV001305695] Chr15:90760168 [GRCh38]
Chr15:91303398 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91290623)_(91512067_?)dup duplication Bloom syndrome [RCV001327573] Chr15:91290623..91512067 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91290623)_(91358509_?)dup duplication Bloom syndrome [RCV001327574] Chr15:91290623..91358509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala) single nucleotide variant Bloom syndrome [RCV001347162]|Hereditary cancer-predisposing syndrome [RCV002447421] Chr15:90794199 [GRCh38]
Chr15:91337429 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4144G>C (p.Ala1382Pro) single nucleotide variant Bloom syndrome [RCV001361379]|Hereditary cancer-predisposing syndrome [RCV002329360] Chr15:90815169 [GRCh38]
Chr15:91358399 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.86A>G (p.Lys29Arg) single nucleotide variant Bloom syndrome [RCV001279093]|Hereditary cancer-predisposing syndrome [RCV004951441] Chr15:90747478 [GRCh38]
Chr15:91290708 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1939C>G (p.Leu647Val) single nucleotide variant Bloom syndrome [RCV001298259] Chr15:90763022 [GRCh38]
Chr15:91306252 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.472G>A (p.Asp158Asn) single nucleotide variant Bloom syndrome [RCV001341062]|Hereditary cancer-predisposing syndrome [RCV003294337]|not provided [RCV004762104]|not specified [RCV002246318] Chr15:90749740 [GRCh38]
Chr15:91292970 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala) single nucleotide variant Bloom syndrome [RCV001322198]|Hereditary cancer-predisposing syndrome [RCV004601455] Chr15:90760212 [GRCh38]
Chr15:91303442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg) single nucleotide variant Bloom syndrome [RCV001344164]|Hereditary cancer-predisposing syndrome [RCV002329323] Chr15:90815257 [GRCh38]
Chr15:91358487 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.719A>T (p.Asp240Val) single nucleotide variant Bloom syndrome [RCV001324865]|Hereditary cancer-predisposing syndrome [RCV002377414] Chr15:90749987 [GRCh38]
Chr15:91293217 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3845dup (p.Leu1282fs) duplication Bloom syndrome [RCV001310121] Chr15:90809228..90809229 [GRCh38]
Chr15:91352458..91352459 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.9:g.(?_91310134)_(91310259_?)del deletion Bloom syndrome [RCV001299333] Chr15:91310134..91310259 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91290613)_(91298178_?)dup duplication Bloom syndrome [RCV001299335] Chr15:91290613..91298178 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser) single nucleotide variant Bloom syndrome [RCV001302278]|Hereditary cancer-predisposing syndrome [RCV002322199] Chr15:90798314 [GRCh38]
Chr15:91341544 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4163C>G (p.Ala1388Gly) single nucleotide variant Bloom syndrome [RCV001347577] Chr15:90815188 [GRCh38]
Chr15:91358418 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala) single nucleotide variant Bloom syndrome [RCV001341350]|Hereditary cancer-predisposing syndrome [RCV002341700] Chr15:90803697 [GRCh38]
Chr15:91346927 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1131G>C (p.Glu377Asp) single nucleotide variant Bloom syndrome [RCV001322402]|Hereditary cancer-predisposing syndrome [RCV005298783] Chr15:90760190 [GRCh38]
Chr15:91303420 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly) single nucleotide variant Bloom syndrome [RCV001347735]|Hereditary cancer-predisposing syndrome [RCV002404820] Chr15:90761079 [GRCh38]
Chr15:91304309 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3172C>G (p.His1058Asp) single nucleotide variant Bloom syndrome [RCV001363510]|Hereditary cancer-predisposing syndrome [RCV002322331] Chr15:90794319 [GRCh38]
Chr15:91337549 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.874GAT[3] (p.Asp295del) microsatellite Bloom syndrome [RCV001363556] Chr15:90751860..90751862 [GRCh38]
Chr15:91295090..91295092 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4198G>A (p.Ala1400Thr) single nucleotide variant Bloom syndrome [RCV001359611]|Hereditary cancer-predisposing syndrome [RCV002329350] Chr15:90815223 [GRCh38]
Chr15:91358453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.348G>C (p.Lys116Asn) single nucleotide variant Bloom syndrome [RCV001306028]|Hereditary cancer-predisposing syndrome [RCV002456389] Chr15:90749616 [GRCh38]
Chr15:91292846 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2170G>A (p.Val724Ile) single nucleotide variant Bloom syndrome [RCV001347844]|Hereditary cancer-predisposing syndrome [RCV004951580] Chr15:90765391 [GRCh38]
Chr15:91308621 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1660G>A (p.Asp554Asn) single nucleotide variant Bloom syndrome [RCV001363666]|Hereditary cancer-predisposing syndrome [RCV004601478] Chr15:90761033 [GRCh38]
Chr15:91304263 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu) single nucleotide variant Bloom syndrome [RCV001298724]|Hereditary cancer-predisposing syndrome [RCV004601437] Chr15:90803618 [GRCh38]
Chr15:91346848 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1804T>G (p.Ser602Ala) single nucleotide variant Bloom syndrome [RCV001299570] Chr15:90761177 [GRCh38]
Chr15:91304407 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3019+6C>G single nucleotide variant Bloom syndrome [RCV001309113] Chr15:90790850 [GRCh38]
Chr15:91334080 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro) single nucleotide variant Bloom syndrome [RCV001319534]|Hereditary cancer-predisposing syndrome [RCV002438725] Chr15:90784947 [GRCh38]
Chr15:91328177 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.242C>G (p.Thr81Arg) single nucleotide variant Bloom syndrome [RCV001321189] Chr15:90749510 [GRCh38]
Chr15:91292740 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3040C>G (p.His1014Asp) single nucleotide variant Bloom syndrome [RCV001321284] Chr15:90794187 [GRCh38]
Chr15:91337417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2974T>C (p.Phe992Leu) single nucleotide variant Bloom syndrome [RCV001363777] Chr15:90790799 [GRCh38]
Chr15:91334029 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3146G>A (p.Gly1049Glu) single nucleotide variant Bloom syndrome [RCV001360116] Chr15:90794293 [GRCh38]
Chr15:91337523 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.650A>C (p.Gln217Pro) single nucleotide variant Bloom syndrome [RCV001314344] Chr15:90749918 [GRCh38]
Chr15:91293148 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys) single nucleotide variant Bloom syndrome [RCV001295245]|Hereditary cancer-predisposing syndrome [RCV002366114] Chr15:90760279 [GRCh38]
Chr15:91303509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.387G>T (p.Lys129Asn) single nucleotide variant Bloom syndrome [RCV001367721] Chr15:90749655 [GRCh38]
Chr15:91292885 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.164C>G (p.Ala55Gly) single nucleotide variant Bloom syndrome [RCV001368500] Chr15:90749432 [GRCh38]
Chr15:91292662 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.976G>A (p.Asp326Asn) single nucleotide variant Bloom syndrome [RCV001364497]|Hereditary cancer-predisposing syndrome [RCV002384522]|not specified [RCV002246340] Chr15:90754827 [GRCh38]
Chr15:91298057 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1063C>G (p.Pro355Ala) single nucleotide variant Bloom syndrome [RCV001319775]|Hereditary cancer-predisposing syndrome [RCV002258198] Chr15:90754914 [GRCh38]
Chr15:91298144 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3352T>G (p.Phe1118Val) single nucleotide variant Bloom syndrome [RCV001366205] Chr15:90798331 [GRCh38]
Chr15:91341561 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.239C>T (p.Thr80Ile) single nucleotide variant Bloom syndrome [RCV001352299] Chr15:90749507 [GRCh38]
Chr15:91292737 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg) single nucleotide variant Bloom syndrome [RCV001297400]|Hereditary cancer-predisposing syndrome [RCV003166662] Chr15:90798278 [GRCh38]
Chr15:91341508 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.896A>G (p.Asp299Gly) single nucleotide variant Bloom syndrome [RCV001369818]|Hereditary cancer-predisposing syndrome [RCV002447484] Chr15:90751883 [GRCh38]
Chr15:91295113 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91290617)_(91358515_?)dup duplication Bloom syndrome [RCV001299334] Chr15:91290617..91358515 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2617A>G (p.Lys873Glu) single nucleotide variant Bloom syndrome [RCV001371063] Chr15:90782883 [GRCh38]
Chr15:91326113 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.565G>A (p.Gly189Ser) single nucleotide variant Bloom syndrome [RCV001371067]|Hereditary cancer-predisposing syndrome [RCV004601483] Chr15:90749833 [GRCh38]
Chr15:91293063 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2895T>A (p.Ser965=) single nucleotide variant Bloom syndrome [RCV001413688]|Hereditary cancer-predisposing syndrome [RCV004601493] Chr15:90790720 [GRCh38]
Chr15:91333950 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.459T>C (p.Asp153=) single nucleotide variant Bloom syndrome [RCV001413744]|Hereditary cancer-predisposing syndrome [RCV002341894] Chr15:90749727 [GRCh38]
Chr15:91292957 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val) single nucleotide variant Bloom syndrome [RCV001371227]|Hereditary cancer-predisposing syndrome [RCV002456581] Chr15:90798277 [GRCh38]
Chr15:91341507 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.995A>T (p.Glu332Val) single nucleotide variant Bloom syndrome [RCV001366551] Chr15:90754846 [GRCh38]
Chr15:91298076 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1460T>C (p.Phe487Ser) single nucleotide variant Bloom syndrome [RCV001366619] Chr15:90760833 [GRCh38]
Chr15:91304063 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3730G>T (p.Val1244Phe) single nucleotide variant Bloom syndrome [RCV001297025]|Hereditary cancer-predisposing syndrome [RCV004601435] Chr15:90804338 [GRCh38]
Chr15:91347568 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu) single nucleotide variant Bloom syndrome [RCV001371339]|Hereditary cancer-predisposing syndrome [RCV002259109] Chr15:90798207 [GRCh38]
Chr15:91341437 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2206T>C (p.Tyr736His) single nucleotide variant Bloom syndrome [RCV001366655]|Hereditary cancer-predisposing syndrome [RCV005298822] Chr15:90766922 [GRCh38]
Chr15:91310152 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+2dup duplication Bloom syndrome [RCV001340626]|Hereditary cancer-predisposing syndrome [RCV002384460] Chr15:90747491..90747492 [GRCh38]
Chr15:91290721..91290722 [GRCh37]
Chr15:15q26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2962C>T (p.His988Tyr) single nucleotide variant Bloom syndrome [RCV001309612]|Hereditary cancer-predisposing syndrome [RCV004601445]|not specified [RCV002246292] Chr15:90790787 [GRCh38]
Chr15:91334017 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.74T>C (p.Leu25Ser) single nucleotide variant Bloom syndrome [RCV001318695]|Hereditary cancer-predisposing syndrome [RCV003346460]|not provided [RCV004998817] Chr15:90747466 [GRCh38]
Chr15:91290696 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr) single nucleotide variant Bloom syndrome [RCV001307405]|Hereditary cancer-predisposing syndrome [RCV004034125] Chr15:90749665 [GRCh38]
Chr15:91292895 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2370A>G (p.Ala790=) single nucleotide variant Bloom syndrome [RCV001414220] Chr15:90769195 [GRCh38]
Chr15:91312425 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3452T>G (p.Leu1151Arg) single nucleotide variant Bloom syndrome [RCV001279096]|Hereditary cancer-predisposing syndrome [RCV004951443] Chr15:90803614 [GRCh38]
Chr15:91346844 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser) single nucleotide variant Bloom syndrome [RCV001326938] Chr15:90815203 [GRCh38]
Chr15:91358433 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+4A>G single nucleotide variant Bloom syndrome [RCV001298033] Chr15:90798341 [GRCh38]
Chr15:91341571 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3136G>A (p.Gly1046Ser) single nucleotide variant Bloom syndrome [RCV001318991]|Hereditary cancer-predisposing syndrome [RCV002322236] Chr15:90794283 [GRCh38]
Chr15:91337513 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2126T>A (p.Val709Asp) single nucleotide variant Bloom syndrome [RCV001279094]|Hereditary cancer-predisposing syndrome [RCV004951442] Chr15:90765347 [GRCh38]
Chr15:91308577 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp) single nucleotide variant Bloom syndrome [RCV001279097]|Hereditary cancer-predisposing syndrome [RCV002451636] Chr15:90803712 [GRCh38]
Chr15:91346942 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2489C>A (p.Thr830Lys) single nucleotide variant Bloom syndrome [RCV001316660]|Hereditary cancer-predisposing syndrome [RCV002431901] Chr15:90769520 [GRCh38]
Chr15:91312750 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg) single nucleotide variant Bloom syndrome [RCV001365394]|Hereditary cancer-predisposing syndrome [RCV002395823] Chr15:90760800 [GRCh38]
Chr15:91304030 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg) single nucleotide variant Bloom syndrome [RCV001371617]|Hereditary cancer-predisposing syndrome [RCV002357267] Chr15:90811358 [GRCh38]
Chr15:91354588 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.186T>A (p.Asn62Lys) single nucleotide variant Bloom syndrome [RCV001367349] Chr15:90749454 [GRCh38]
Chr15:91292684 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.223G>C (p.Glu75Gln) single nucleotide variant Bloom syndrome [RCV001365428]|Hereditary cancer-predisposing syndrome [RCV003169842] Chr15:90749491 [GRCh38]
Chr15:91292721 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1593A>T (p.Lys531Asn) single nucleotide variant Bloom syndrome [RCV001300683]|Hereditary cancer-predisposing syndrome [RCV002402837] Chr15:90760966 [GRCh38]
Chr15:91304196 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.993A>G (p.Lys331=) single nucleotide variant Bloom syndrome [RCV001421425] Chr15:90754844 [GRCh38]
Chr15:91298074 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3221C>T (p.Thr1074Ile) single nucleotide variant Bloom syndrome [RCV001316235] Chr15:90798200 [GRCh38]
Chr15:91341430 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3604A>G (p.Lys1202Glu) single nucleotide variant Bloom syndrome [RCV001316294] Chr15:90804212 [GRCh38]
Chr15:91347442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2330T>C (p.Ile777Thr) single nucleotide variant Bloom syndrome [RCV001361204]|Hereditary cancer-predisposing syndrome [RCV004601475] Chr15:90769155 [GRCh38]
Chr15:91312385 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.600A>C (p.Thr200=) single nucleotide variant Bloom syndrome [RCV001412783] Chr15:90749868 [GRCh38]
Chr15:91293098 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser) single nucleotide variant Bloom syndrome [RCV001365489]|Hereditary cancer-predisposing syndrome [RCV002413871] Chr15:90763010 [GRCh38]
Chr15:91306240 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2748T>G (p.Leu916=) single nucleotide variant Bloom syndrome [RCV001494613] Chr15:90785006 [GRCh38]
Chr15:91328236 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4016T>G (p.Met1339Arg) single nucleotide variant Bloom syndrome [RCV001349113] Chr15:90811346 [GRCh38]
Chr15:91354576 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2209C>T (p.Leu737=) single nucleotide variant Bloom syndrome [RCV001421917] Chr15:90766925 [GRCh38]
Chr15:91310155 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.333C>T (p.Phe111=) single nucleotide variant Bloom syndrome [RCV001413794] Chr15:90749601 [GRCh38]
Chr15:91292831 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.886T>C (p.Tyr296His) single nucleotide variant Bloom syndrome [RCV001369880] Chr15:90751873 [GRCh38]
Chr15:91295103 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2056T>C (p.Phe686Leu) single nucleotide variant Bloom syndrome [RCV001350073] Chr15:90763139 [GRCh38]
Chr15:91306369 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2278A>G (p.Ile760Val) single nucleotide variant Bloom syndrome [RCV001298924] Chr15:90766994 [GRCh38]
Chr15:91310224 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr) single nucleotide variant Bloom syndrome [RCV001313239]|Hereditary cancer-predisposing syndrome [RCV002438699] Chr15:90790658 [GRCh38]
Chr15:91333888 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu) single nucleotide variant Bloom syndrome [RCV001297346]|Hereditary cancer-predisposing syndrome [RCV003166660] Chr15:90803618 [GRCh38]
Chr15:91346848 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2028C>T (p.Ile676=) single nucleotide variant Bloom syndrome [RCV001482144] Chr15:90763111 [GRCh38]
Chr15:91306341 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2046T>G (p.Gly682=) single nucleotide variant Bloom syndrome [RCV001416718]|Hereditary cancer-predisposing syndrome [RCV004951709] Chr15:90763129 [GRCh38]
Chr15:91306359 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2103C>A (p.Leu701=) single nucleotide variant Bloom syndrome [RCV001481509]|Hereditary cancer-predisposing syndrome [RCV002256792] Chr15:90765324 [GRCh38]
Chr15:91308554 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2550T>C (p.Pro850=) single nucleotide variant Bloom syndrome [RCV001492265]|Hereditary cancer-predisposing syndrome [RCV003298872] Chr15:90769581 [GRCh38]
Chr15:91312811 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2917del (p.Tyr973fs) deletion Bloom syndrome [RCV001387237] Chr15:90790741 [GRCh38]
Chr15:91333971 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1563A>G (p.Pro521=) single nucleotide variant Bloom syndrome [RCV001492293]|Hereditary cancer-predisposing syndrome [RCV002405158] Chr15:90760936 [GRCh38]
Chr15:91304166 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.981C>G (p.Thr327=) single nucleotide variant Bloom syndrome [RCV001505702] Chr15:90754832 [GRCh38]
Chr15:91298062 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2058T>C (p.Phe686=) single nucleotide variant Bloom syndrome [RCV001475246]|Hereditary cancer-predisposing syndrome [RCV002421086] Chr15:90763141 [GRCh38]
Chr15:91306371 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) single nucleotide variant Bloom syndrome [RCV001380476] Chr15:90760865 [GRCh38]
Chr15:91304095 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NC_000015.9:g.(?_91290623)_(91298188_?)del deletion Bloom syndrome [RCV001389774] Chr15:91290623..91298188 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2253C>A (p.Leu751=) single nucleotide variant Bloom syndrome [RCV001470398]|Hereditary cancer-predisposing syndrome [RCV004951807] Chr15:90766969 [GRCh38]
Chr15:91310199 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-8C>T single nucleotide variant Bloom syndrome [RCV001470521] Chr15:90760586 [GRCh38]
Chr15:91303816 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3211-8A>C single nucleotide variant Bloom syndrome [RCV001487796] Chr15:90798182 [GRCh38]
Chr15:91341412 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406+8C>G single nucleotide variant Bloom syndrome [RCV001473680] Chr15:90769239 [GRCh38]
Chr15:91312469 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.426T>C (p.Ser142=) single nucleotide variant Bloom syndrome [RCV001499934] Chr15:90749694 [GRCh38]
Chr15:91292924 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1905A>G (p.Ala635=) single nucleotide variant Bloom syndrome [RCV001436275]|Hereditary cancer-predisposing syndrome [RCV002414035] Chr15:90762988 [GRCh38]
Chr15:91306218 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3396A>G (p.Gly1132=) single nucleotide variant Bloom syndrome [RCV001405173]|Hereditary cancer-predisposing syndrome [RCV003284304] Chr15:90803558 [GRCh38]
Chr15:91346788 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2074+7A>G single nucleotide variant Bloom syndrome [RCV001498954]|not provided [RCV004998933] Chr15:90763164 [GRCh38]
Chr15:91306394 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2865A>G (p.Lys955=) single nucleotide variant Bloom syndrome [RCV001470920] Chr15:90790690 [GRCh38]
Chr15:91333920 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.477C>T (p.Asp159=) single nucleotide variant Bloom syndrome [RCV001486104] Chr15:90749745 [GRCh38]
Chr15:91292975 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1074C>T (p.Ser358=) single nucleotide variant Bloom syndrome [RCV001405220]|Hereditary cancer-predisposing syndrome [RCV002420902] Chr15:90754925 [GRCh38]
Chr15:91298155 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3060C>T (p.Phe1020=) single nucleotide variant Bloom syndrome [RCV001441675]|Hereditary cancer-predisposing syndrome [RCV002449190] Chr15:90794207 [GRCh38]
Chr15:91337437 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.966A>G (p.Leu322=) single nucleotide variant Bloom syndrome [RCV001405296] Chr15:90754817 [GRCh38]
Chr15:91298047 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.300G>A (p.Gln100=) single nucleotide variant Bloom syndrome [RCV001454461] Chr15:90749568 [GRCh38]
Chr15:91292798 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1185T>C (p.Asp395=) single nucleotide variant Bloom syndrome [RCV001455652] Chr15:90760244 [GRCh38]
Chr15:91303474 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+10C>A single nucleotide variant Bloom syndrome [RCV001505319] Chr15:90804369 [GRCh38]
Chr15:91347599 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.612A>G (p.Val204=) single nucleotide variant Bloom syndrome [RCV001475540]|Hereditary cancer-predisposing syndrome [RCV002359067] Chr15:90749880 [GRCh38]
Chr15:91293110 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1695T>C (p.Asp565=) single nucleotide variant Bloom syndrome [RCV001462914] Chr15:90761068 [GRCh38]
Chr15:91304298 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.738G>A (p.Val246=) single nucleotide variant Bloom syndrome [RCV001476779]|Hereditary cancer-predisposing syndrome [RCV002384772] Chr15:90750006 [GRCh38]
Chr15:91293236 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1281G>A (p.Leu427=) single nucleotide variant Bloom syndrome [RCV001469444]|Hereditary cancer-predisposing syndrome [RCV002384756] Chr15:90760654 [GRCh38]
Chr15:91303884 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.405T>C (p.Ala135=) single nucleotide variant Bloom syndrome [RCV001442171]|Hereditary cancer-predisposing syndrome [RCV002322465] Chr15:90749673 [GRCh38]
Chr15:91292903 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1767A>G (p.Glu589=) single nucleotide variant Bloom syndrome [RCV001462875] Chr15:90761140 [GRCh38]
Chr15:91304370 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2709C>A (p.Thr903=) single nucleotide variant Bloom syndrome [RCV001491625]|Hereditary cancer-predisposing syndrome [RCV002432381] Chr15:90784967 [GRCh38]
Chr15:91328197 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.135C>T (p.Asn45=) single nucleotide variant Bloom syndrome [RCV001497302] Chr15:90749403 [GRCh38]
Chr15:91292633 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3875-7T>C single nucleotide variant Bloom syndrome [RCV001415589] Chr15:90811198 [GRCh38]
Chr15:91354428 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3558+12_3558+13del deletion Bloom syndrome [RCV001503594] Chr15:90803729..90803730 [GRCh38]
Chr15:91346959..91346960 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.327A>G (p.Pro109=) single nucleotide variant Bloom syndrome [RCV001491764] Chr15:90749595 [GRCh38]
Chr15:91292825 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4233G>A (p.Lys1411=) single nucleotide variant Bloom syndrome [RCV001406123] Chr15:90815258 [GRCh38]
Chr15:91358488 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2496A>C (p.Thr832=) single nucleotide variant Bloom syndrome [RCV001503863]|Hereditary cancer-predisposing syndrome [RCV003161020] Chr15:90769527 [GRCh38]
Chr15:91312757 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) single nucleotide variant Bloom syndrome [RCV001388693] Chr15:90769441 [GRCh38]
Chr15:91312671 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3875-1G>A single nucleotide variant Bloom syndrome [RCV001377094]|Hereditary cancer-predisposing syndrome [RCV002357280] Chr15:90811204 [GRCh38]
Chr15:91354434 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.3093A>G (p.Glu1031=) single nucleotide variant Bloom syndrome [RCV001483700]|Hereditary cancer-predisposing syndrome [RCV002324073]|not provided [RCV004998927] Chr15:90794240 [GRCh38]
Chr15:91337470 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2172C>T (p.Val724=) single nucleotide variant Bloom syndrome [RCV001489791]|Hereditary cancer-predisposing syndrome [RCV002432375] Chr15:90765393 [GRCh38]
Chr15:91308623 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4167A>C (p.Thr1389=) single nucleotide variant Bloom syndrome [RCV001467377]|Hereditary cancer-predisposing syndrome [RCV002329550] Chr15:90815192 [GRCh38]
Chr15:91358422 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-7A>T single nucleotide variant Bloom syndrome [RCV001434802] Chr15:90790642 [GRCh38]
Chr15:91333872 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1875T>C (p.Asn625=) single nucleotide variant Bloom syndrome [RCV001401501] Chr15:90761248 [GRCh38]
Chr15:91304478 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.9:g.(?_91326042)_(91328321_?)dup duplication Bloom syndrome [RCV001379838] Chr15:91326042..91328321 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer) insertion Bloom syndrome [RCV001381957] Chr15:90761014..90761015 [GRCh38]
Chr15:91304244..91304245 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3359-4T>A single nucleotide variant Bloom syndrome [RCV001435122] Chr15:90803517 [GRCh38]
Chr15:91346747 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter) single nucleotide variant Bloom syndrome [RCV001386984] Chr15:90762972 [GRCh38]
Chr15:91306202 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3699T>C (p.Phe1233=) single nucleotide variant Bloom syndrome [RCV001426085]|Hereditary cancer-predisposing syndrome [RCV002358950] Chr15:90804307 [GRCh38]
Chr15:91347537 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2940T>C (p.Ala980=) single nucleotide variant Bloom syndrome [RCV001445857]|Hereditary cancer-predisposing syndrome [RCV004038440] Chr15:90790765 [GRCh38]
Chr15:91333995 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+10C>T single nucleotide variant Bloom syndrome [RCV001402075] Chr15:90809269 [GRCh38]
Chr15:91352499 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407-6A>T single nucleotide variant Bloom syndrome [RCV001430011] Chr15:90769432 [GRCh38]
Chr15:91312662 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2694G>A (p.Arg898=) single nucleotide variant Bloom syndrome [RCV001406766] Chr15:90784952 [GRCh38]
Chr15:91328182 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.240C>T (p.Thr80=) single nucleotide variant Bloom syndrome [RCV001432445]|Hereditary cancer-predisposing syndrome [RCV002456714]|not provided [RCV003992519] Chr15:90749508 [GRCh38]
Chr15:91292738 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+9A>G single nucleotide variant Bloom syndrome [RCV001446075] Chr15:90760288 [GRCh38]
Chr15:91303518 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter) single nucleotide variant Bloom syndrome [RCV001385069] Chr15:90767008 [GRCh38]
Chr15:91310238 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3019+9G>A single nucleotide variant Bloom syndrome [RCV001443800] Chr15:90790853 [GRCh38]
Chr15:91334083 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1383T>C (p.Asn461=) single nucleotide variant Bloom syndrome [RCV001435687]|Hereditary cancer-predisposing syndrome [RCV002384655] Chr15:90760756 [GRCh38]
Chr15:91303986 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3504C>A (p.Ile1168=) single nucleotide variant Bloom syndrome [RCV001440956] Chr15:90803666 [GRCh38]
Chr15:91346896 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+9G>C single nucleotide variant Bloom syndrome [RCV001448748] Chr15:90790853 [GRCh38]
Chr15:91334083 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter) single nucleotide variant Bloom syndrome [RCV001389745] Chr15:90761001 [GRCh38]
Chr15:91304231 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91290613)_(91293307_?)del deletion Bloom syndrome [RCV001389773] Chr15:91290613..91293307 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.572_573del (p.Arg191fs) microsatellite Bloom syndrome [RCV001388233]|Hereditary cancer-predisposing syndrome [RCV004037694] Chr15:90749837..90749838 [GRCh38]
Chr15:91293067..91293068 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs) deletion Bloom syndrome [RCV001383673] Chr15:90809243..90809246 [GRCh38]
Chr15:91352473..91352476 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1314T>C (p.Pro438=) single nucleotide variant Bloom syndrome [RCV001404758]|Hereditary cancer-predisposing syndrome [RCV005298834] Chr15:90760687 [GRCh38]
Chr15:91303917 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407-9T>C single nucleotide variant Bloom syndrome [RCV001446541] Chr15:90769429 [GRCh38]
Chr15:91312659 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2016G>A (p.Gln672=) single nucleotide variant Bloom syndrome [RCV001407611] Chr15:90763099 [GRCh38]
Chr15:91306329 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1176dup (p.Leu393fs) duplication Bloom syndrome [RCV001381406]|Hereditary cancer-predisposing syndrome [RCV002329401] Chr15:90760232..90760233 [GRCh38]
Chr15:91303462..91303463 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3936T>A (p.Ala1312=) single nucleotide variant Bloom syndrome [RCV001430644] Chr15:90811266 [GRCh38]
Chr15:91354496 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3616del (p.Ala1206fs) deletion Bloom syndrome [RCV001380892] Chr15:90804224 [GRCh38]
Chr15:91347454 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2739C>A (p.Leu913=) single nucleotide variant Bloom syndrome [RCV001405371] Chr15:90784997 [GRCh38]
Chr15:91328227 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3726T>C (p.Asn1242=) single nucleotide variant Bloom syndrome [RCV001407880]|Hereditary cancer-predisposing syndrome [RCV002350779] Chr15:90804334 [GRCh38]
Chr15:91347564 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2493C>T (p.Ala831=) single nucleotide variant Bloom syndrome [RCV001447129]|Hereditary cancer-predisposing syndrome [RCV002432242] Chr15:90769524 [GRCh38]
Chr15:91312754 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1599G>A (p.Gln533=) single nucleotide variant Bloom syndrome [RCV001449525]|Hereditary cancer-predisposing syndrome [RCV003346567] Chr15:90760972 [GRCh38]
Chr15:91304202 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.384A>G (p.Val128=) single nucleotide variant Bloom syndrome [RCV001447280] Chr15:90749652 [GRCh38]
Chr15:91292882 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-120T>C single nucleotide variant Bloom syndrome [RCV001533490]|not provided [RCV001712974] Chr15:90751667 [GRCh38]
Chr15:91294897 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1554T>A (p.Ser518=) single nucleotide variant Bloom syndrome [RCV001393401] Chr15:90760927 [GRCh38]
Chr15:91304157 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs) deletion Bloom syndrome [RCV001390289] Chr15:90790836..90790837 [GRCh38]
Chr15:91334066..91334067 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4218T>C (p.Asn1406=) single nucleotide variant Bloom syndrome [RCV001428818] Chr15:90815243 [GRCh38]
Chr15:91358473 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3240T>C (p.Asp1080=) single nucleotide variant Bloom syndrome [RCV001447470]|Hereditary cancer-predisposing syndrome [RCV003298764] Chr15:90798219 [GRCh38]
Chr15:91341449 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2210_2212del (p.Leu737_Thr738delinsPro) deletion Bloom syndrome [RCV001380566] Chr15:90766926..90766928 [GRCh38]
Chr15:91310156..91310158 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) single nucleotide variant Bloom syndrome [RCV001381688]|Hereditary cancer-predisposing syndrome [RCV002447509] Chr15:90798260 [GRCh38]
Chr15:91341490 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.227del (p.Pro76fs) deletion Bloom syndrome [RCV001388702] Chr15:90749494 [GRCh38]
Chr15:91292724 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.996G>A (p.Glu332=) single nucleotide variant Bloom syndrome [RCV001431243]|Hereditary cancer-predisposing syndrome [RCV002384646] Chr15:90754847 [GRCh38]
Chr15:91298077 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2982C>G (p.Thr994=) single nucleotide variant Bloom syndrome [RCV001408086]|Hereditary cancer-predisposing syndrome [RCV003355459] Chr15:90790807 [GRCh38]
Chr15:91334037 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2298T>A (p.Thr766=) single nucleotide variant Bloom syndrome [RCV001431569] Chr15:90767014 [GRCh38]
Chr15:91310244 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3534A>G (p.Gln1178=) single nucleotide variant Bloom syndrome [RCV001419331]|Hereditary cancer-predisposing syndrome [RCV002456678] Chr15:90803696 [GRCh38]
Chr15:91346926 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.852G>A (p.Glu284=) single nucleotide variant Bloom syndrome [RCV001428162]|Hereditary cancer-predisposing syndrome [RCV003355470]|not specified [RCV001820123] Chr15:90751839 [GRCh38]
Chr15:91295069 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2599T>C (p.Leu867=) single nucleotide variant Bloom syndrome [RCV001431353]|Hereditary cancer-predisposing syndrome [RCV002432197] Chr15:90782865 [GRCh38]
Chr15:91326095 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.837A>G (p.Glu279=) single nucleotide variant Bloom syndrome [RCV001410808]|Hereditary cancer-predisposing syndrome [RCV004038069] Chr15:90751824 [GRCh38]
Chr15:91295054 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+10T>C single nucleotide variant Bloom syndrome [RCV001434696] Chr15:90769596 [GRCh38]
Chr15:91312826 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3869del (p.Ser1290fs) deletion Bloom syndrome [RCV001381538] Chr15:90809254 [GRCh38]
Chr15:91352484 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1908C>T (p.Ser636=) single nucleotide variant Bloom syndrome [RCV001411107]|Hereditary cancer-predisposing syndrome [RCV002413977] Chr15:90762991 [GRCh38]
Chr15:91306221 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.9:g.(?_91346741)_(91358509_?)del deletion Bloom syndrome [RCV001379836] Chr15:91346741..91358509 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.9:g.(?_91352357)_(91358509_?)del deletion Bloom syndrome [RCV001379837] Chr15:91352357..91358509 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2406+8C>T single nucleotide variant Bloom syndrome [RCV001408448] Chr15:90769239 [GRCh38]
Chr15:91312469 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2663-1G>C single nucleotide variant Bloom syndrome [RCV001377176] Chr15:90784920 [GRCh38]
Chr15:91328150 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2973T>C (p.Leu991=) single nucleotide variant Bloom syndrome [RCV001426935]|Hereditary cancer-predisposing syndrome [RCV004601496] Chr15:90790798 [GRCh38]
Chr15:91334028 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter) single nucleotide variant Bloom syndrome [RCV001381701]|not provided [RCV003478807] Chr15:90804254 [GRCh38]
Chr15:91347484 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2034T>C (p.Ala678=) single nucleotide variant Bloom syndrome [RCV001447920]|Hereditary cancer-predisposing syndrome [RCV003346566] Chr15:90763117 [GRCh38]
Chr15:91306347 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-119C>T single nucleotide variant not provided [RCV001534900] Chr15:90809018 [GRCh38]
Chr15:91352248 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1878T>C (p.Tyr626=) single nucleotide variant Bloom syndrome [RCV001417936]|Hereditary cancer-predisposing syndrome [RCV002413994] Chr15:90761251 [GRCh38]
Chr15:91304481 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+9T>C single nucleotide variant Bloom syndrome [RCV001429641] Chr15:90811415 [GRCh38]
Chr15:91354645 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.357_358del (p.Cys120fs) deletion Bloom syndrome [RCV001384124] Chr15:90749624..90749625 [GRCh38]
Chr15:91292854..91292855 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.501A>G (p.Lys167=) single nucleotide variant Bloom syndrome [RCV001416340] Chr15:90749769 [GRCh38]
Chr15:91292999 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.589C>T (p.Gln197Ter) single nucleotide variant Bloom syndrome [RCV001386785] Chr15:90749857 [GRCh38]
Chr15:91293087 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.756T>C (p.Ala252=) single nucleotide variant Bloom syndrome [RCV001411375] Chr15:90750024 [GRCh38]
Chr15:91293254 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+195C>T single nucleotide variant not provided [RCV001535180] Chr15:90804554 [GRCh38]
Chr15:91347784 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2662+2T>G single nucleotide variant BLM-related disorder [RCV004728692]|Bloom syndrome [RCV001377320] Chr15:90782930 [GRCh38]
Chr15:91326160 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2115T>A (p.Val705=) single nucleotide variant Bloom syndrome [RCV001431732]|Hereditary cancer-predisposing syndrome [RCV002420971] Chr15:90765336 [GRCh38]
Chr15:91308566 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3777T>A (p.Val1259=) single nucleotide variant Bloom syndrome [RCV001401745] Chr15:90809162 [GRCh38]
Chr15:91352392 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1860A>C (p.Ser620=) single nucleotide variant Bloom syndrome [RCV001443021] Chr15:90761233 [GRCh38]
Chr15:91304463 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.84A>G (p.Ser28=) single nucleotide variant Bloom syndrome [RCV001436885]|Hereditary cancer-predisposing syndrome [RCV002449179] Chr15:90747476 [GRCh38]
Chr15:91290706 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs) deletion Bloom syndrome [RCV001389039] Chr15:90766994..90767004 [GRCh38]
Chr15:91310224..91310234 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91341410)_(91341577_?)del deletion Bloom syndrome [RCV001382010] Chr15:91341410..91341577 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3651A>G (p.Lys1217=) single nucleotide variant Bloom syndrome [RCV001438307] Chr15:90804259 [GRCh38]
Chr15:91347489 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3845del (p.Leu1282fs) deletion Bloom syndrome [RCV001389026] Chr15:90809229 [GRCh38]
Chr15:91352459 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3825T>C (p.Gly1275=) single nucleotide variant Bloom syndrome [RCV001445752] Chr15:90809210 [GRCh38]
Chr15:91352440 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.555A>G (p.Lys185=) single nucleotide variant Bloom syndrome [RCV001445754]|Hereditary cancer-predisposing syndrome [RCV003346562] Chr15:90749823 [GRCh38]
Chr15:91293053 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1482C>A (p.Thr494=) single nucleotide variant Bloom syndrome [RCV001424608]|Hereditary cancer-predisposing syndrome [RCV002395970] Chr15:90760855 [GRCh38]
Chr15:91304085 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3963A>G (p.Val1321=) single nucleotide variant Bloom syndrome [RCV001489742] Chr15:90811293 [GRCh38]
Chr15:91354523 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3603A>G (p.Gln1201=) single nucleotide variant Bloom syndrome [RCV001468431]|Hereditary cancer-predisposing syndrome [RCV002456806] Chr15:90804211 [GRCh38]
Chr15:91347441 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1551C>T (p.Ser517=) single nucleotide variant Bloom syndrome [RCV001472911]|Hereditary cancer-predisposing syndrome [RCV002396117] Chr15:90760924 [GRCh38]
Chr15:91304154 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3372A>G (p.Ala1124=) single nucleotide variant Bloom syndrome [RCV001454172]|Hereditary cancer-predisposing syndrome [RCV002456767] Chr15:90803534 [GRCh38]
Chr15:91346764 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-189G>A single nucleotide variant not provided [RCV001686446] Chr15:90793978 [GRCh38]
Chr15:91337208 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1088-218A>G single nucleotide variant not provided [RCV001541303] Chr15:90759929 [GRCh38]
Chr15:91303159 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.4038G>A (p.Lys1346=) single nucleotide variant Bloom syndrome [RCV001481993]|Hereditary cancer-predisposing syndrome [RCV003284343] Chr15:90811368 [GRCh38]
Chr15:91354598 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2663-4G>A single nucleotide variant Bloom syndrome [RCV001450602] Chr15:90784917 [GRCh38]
Chr15:91328147 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.891T>C (p.Asp297=) single nucleotide variant Bloom syndrome [RCV001454467] Chr15:90751878 [GRCh38]
Chr15:91295108 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+61G>C single nucleotide variant Bloom syndrome [RCV001832852]|not provided [RCV001669052] Chr15:90765475 [GRCh38]
Chr15:91308705 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.2508G>A (p.Arg836=) single nucleotide variant Bloom syndrome [RCV001475953]|Hereditary cancer-predisposing syndrome [RCV004037165] Chr15:90769539 [GRCh38]
Chr15:91312769 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4242T>C (p.Tyr1414=) single nucleotide variant Bloom syndrome [RCV001465538]|Hereditary cancer-predisposing syndrome [RCV002329545] Chr15:90815267 [GRCh38]
Chr15:91358497 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.75A>G (p.Leu25=) single nucleotide variant Bloom syndrome [RCV001502736]|Hereditary cancer-predisposing syndrome [RCV003375332] Chr15:90747467 [GRCh38]
Chr15:91290697 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-285G>C single nucleotide variant not provided [RCV001667050] Chr15:90765011 [GRCh38]
Chr15:91308241 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.4023C>A (p.Ala1341=) single nucleotide variant Bloom syndrome [RCV001462512] Chr15:90811353 [GRCh38]
Chr15:91354583 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.25C>T (p.Leu9=) single nucleotide variant Bloom syndrome [RCV001506946] Chr15:90747417 [GRCh38]
Chr15:91290647 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1164T>C (p.Asp388=) single nucleotide variant Bloom syndrome [RCV001499696] Chr15:90760223 [GRCh38]
Chr15:91303453 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2637A>G (p.Leu879=) single nucleotide variant Bloom syndrome [RCV001499798]|Hereditary cancer-predisposing syndrome [RCV004946691] Chr15:90782903 [GRCh38]
Chr15:91326133 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1236G>T (p.Thr412=) single nucleotide variant Bloom syndrome [RCV001496854] Chr15:90760609 [GRCh38]
Chr15:91303839 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.42A>G (p.Glu14=) single nucleotide variant Bloom syndrome [RCV001486827] Chr15:90747434 [GRCh38]
Chr15:91290664 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.156G>T (p.Val52=) single nucleotide variant Bloom syndrome [RCV001476306] Chr15:90749424 [GRCh38]
Chr15:91292654 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3558+185C>A single nucleotide variant not provided [RCV001654529] Chr15:90803905 [GRCh38]
Chr15:91347135 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3990C>T (p.Thr1330=) single nucleotide variant Bloom syndrome [RCV001466361] Chr15:90811320 [GRCh38]
Chr15:91354550 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1180T>C (p.Leu394=) single nucleotide variant Bloom syndrome [RCV001470247]|Hereditary cancer-predisposing syndrome [RCV002342059] Chr15:90760239 [GRCh38]
Chr15:91303469 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4005G>A (p.Lys1335=) single nucleotide variant Bloom syndrome [RCV001459521]|Hereditary cancer-predisposing syndrome [RCV002359025] Chr15:90811335 [GRCh38]
Chr15:91354565 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2074+280G>A single nucleotide variant not provided [RCV001537254] Chr15:90763437 [GRCh38]
Chr15:91306667 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.959+248_959+249dup duplication not provided [RCV001592507] Chr15:90752180..90752181 [GRCh38]
Chr15:91295410..91295411 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2421T>C (p.Phe807=) single nucleotide variant Bloom syndrome [RCV001463318]|Hereditary cancer-predisposing syndrome [RCV003160879] Chr15:90769452 [GRCh38]
Chr15:91312682 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.318A>C (p.Ser106=) single nucleotide variant Bloom syndrome [RCV001470447] Chr15:90749586 [GRCh38]
Chr15:91292816 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs) deletion Bloom syndrome [RCV001580644] Chr15:90803600..90803601 [GRCh38]
Chr15:91346830..91346831 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.582T>C (p.Phe194=) single nucleotide variant Bloom syndrome [RCV001466876] Chr15:90749850 [GRCh38]
Chr15:91293080 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+285A>G single nucleotide variant not provided [RCV001687780] Chr15:90809544 [GRCh38]
Chr15:91352774 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1338A>G (p.Thr446=) single nucleotide variant Bloom syndrome [RCV001453323]|Hereditary cancer-predisposing syndrome [RCV003160830] Chr15:90760711 [GRCh38]
Chr15:91303941 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1584T>G (p.Thr528=) single nucleotide variant Bloom syndrome [RCV001504397] Chr15:90760957 [GRCh38]
Chr15:91304187 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3211-4A>G single nucleotide variant Bloom syndrome [RCV001463408] Chr15:90798186 [GRCh38]
Chr15:91341416 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3618A>C (p.Ala1206=) single nucleotide variant Bloom syndrome [RCV001480787] Chr15:90804226 [GRCh38]
Chr15:91347456 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4077-185C>T single nucleotide variant not provided [RCV001585440] Chr15:90814917 [GRCh38]
Chr15:91358147 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-8T>G single nucleotide variant Bloom syndrome [RCV001481204] Chr15:90782814 [GRCh38]
Chr15:91326044 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2514G>A (p.Gln838=) single nucleotide variant Bloom syndrome [RCV001488624] Chr15:90769545 [GRCh38]
Chr15:91312775 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1326T>C (p.Asp442=) single nucleotide variant Bloom syndrome [RCV001488845]|Hereditary cancer-predisposing syndrome [RCV002384800] Chr15:90760699 [GRCh38]
Chr15:91303929 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2118T>C (p.Ser706=) single nucleotide variant Bloom syndrome [RCV001471883]|Hereditary cancer-predisposing syndrome [RCV002421076] Chr15:90765339 [GRCh38]
Chr15:91308569 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4077-61_4077-59dup duplication not provided [RCV001714404] Chr15:90815038..90815039 [GRCh38]
Chr15:91358268..91358269 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1791A>G (p.Ser597=) single nucleotide variant Bloom syndrome [RCV001460886]|Hereditary cancer-predisposing syndrome [RCV002414104] Chr15:90761164 [GRCh38]
Chr15:91304394 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.227C>T (p.Pro76Leu) single nucleotide variant Bloom syndrome [RCV001484883]|Hereditary cancer-predisposing syndrome [RCV002449283] Chr15:90749495 [GRCh38]
Chr15:91292725 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4119C>T (p.Ser1373=) single nucleotide variant Bloom syndrome [RCV001505124] Chr15:90815144 [GRCh38]
Chr15:91358374 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2760T>C (p.Ala920=) single nucleotide variant Bloom syndrome [RCV001489222] Chr15:90785018 [GRCh38]
Chr15:91328248 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2760T>G (p.Ala920=) single nucleotide variant Bloom syndrome [RCV001436154] Chr15:90785018 [GRCh38]
Chr15:91328248 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.9:g.(?_91291282)_91292741del deletion Bloom syndrome [RCV001379839]   likely pathogenic
NM_000057.4(BLM):c.2325A>G (p.Arg775=) single nucleotide variant Bloom syndrome [RCV001499892]|Hereditary cancer-predisposing syndrome [RCV004037404] Chr15:90769150 [GRCh38]
Chr15:91312380 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4089A>T (p.Thr1363=) single nucleotide variant Bloom syndrome [RCV001456727]|Hereditary cancer-predisposing syndrome [RCV004038557] Chr15:90815114 [GRCh38]
Chr15:91358344 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3654T>C (p.Cys1218=) single nucleotide variant Bloom syndrome [RCV001424947] Chr15:90804262 [GRCh38]
Chr15:91347492 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.159A>G (p.Ser53=) single nucleotide variant Bloom syndrome [RCV001504547]|Hereditary cancer-predisposing syndrome [RCV002405199] Chr15:90749427 [GRCh38]
Chr15:91292657 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1038G>A (p.Glu346=) single nucleotide variant Bloom syndrome [RCV001490338]|Hereditary cancer-predisposing syndrome [RCV004946675] Chr15:90754889 [GRCh38]
Chr15:91298119 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4140T>C (p.Ser1380=) single nucleotide variant Bloom syndrome [RCV001499975] Chr15:90815165 [GRCh38]
Chr15:91358395 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.689G>A (p.Trp230Ter) single nucleotide variant Bloom syndrome [RCV001386838] Chr15:90749957 [GRCh38]
Chr15:91293187 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs) microsatellite Bloom syndrome [RCV001386882] Chr15:90763063..90763064 [GRCh38]
Chr15:91306293..91306294 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2194-8A>G single nucleotide variant Bloom syndrome [RCV001497811] Chr15:90766902 [GRCh38]
Chr15:91310132 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3831A>G (p.Glu1277=) single nucleotide variant Bloom syndrome [RCV001470546]|Hereditary cancer-predisposing syndrome [RCV002359052] Chr15:90809216 [GRCh38]
Chr15:91352446 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.267C>T (p.Phe89=) single nucleotide variant Bloom syndrome [RCV001473647]|Hereditary cancer-predisposing syndrome [RCV002439130] Chr15:90749535 [GRCh38]
Chr15:91292765 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3918C>T (p.Gly1306=) single nucleotide variant Bloom syndrome [RCV001450853]|Hereditary cancer-predisposing syndrome [RCV002377747] Chr15:90811248 [GRCh38]
Chr15:91354478 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-8T>C single nucleotide variant Bloom syndrome [RCV001477858] Chr15:90809129 [GRCh38]
Chr15:91352359 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3234T>C (p.Thr1078=) single nucleotide variant Bloom syndrome [RCV001482083] Chr15:90798213 [GRCh38]
Chr15:91341443 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3186T>A (p.Ser1062=) single nucleotide variant Bloom syndrome [RCV001506199]|Hereditary cancer-predisposing syndrome [RCV002324114] Chr15:90794333 [GRCh38]
Chr15:91337563 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.264C>T (p.Asp88=) single nucleotide variant Bloom syndrome [RCV001460670] Chr15:90749532 [GRCh38]
Chr15:91292762 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1956A>C (p.Thr652=) single nucleotide variant Bloom syndrome [RCV001486620]|Hereditary cancer-predisposing syndrome [RCV003298859] Chr15:90763039 [GRCh38]
Chr15:91306269 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2017C>T (p.Leu673=) single nucleotide variant Bloom syndrome [RCV001471047]|Hereditary cancer-predisposing syndrome [RCV002421074] Chr15:90763100 [GRCh38]
Chr15:91306330 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3399A>G (p.Lys1133=) single nucleotide variant Bloom syndrome [RCV001451448] Chr15:90803561 [GRCh38]
Chr15:91346791 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.903T>A (p.Val301=) single nucleotide variant Bloom syndrome [RCV001461420] Chr15:90751890 [GRCh38]
Chr15:91295120 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2265A>G (p.Lys755=) single nucleotide variant Bloom syndrome [RCV001496308] Chr15:90766981 [GRCh38]
Chr15:91310211 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+10G>A single nucleotide variant Bloom syndrome [RCV001476129] Chr15:90811416 [GRCh38]
Chr15:91354646 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.45T>A (p.Arg15=) single nucleotide variant Bloom syndrome [RCV001483136] Chr15:90747437 [GRCh38]
Chr15:91290667 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.222T>C (p.Ser74=) single nucleotide variant Bloom syndrome [RCV001499018] Chr15:90749490 [GRCh38]
Chr15:91292720 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3358+10C>G single nucleotide variant Bloom syndrome [RCV001496396] Chr15:90798347 [GRCh38]
Chr15:91341577 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3978T>C (p.Phe1326=) single nucleotide variant Bloom syndrome [RCV001453713]|Hereditary cancer-predisposing syndrome [RCV002359010] Chr15:90811308 [GRCh38]
Chr15:91354538 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2367G>A (p.Leu789=) single nucleotide variant Bloom syndrome [RCV001460999] Chr15:90769192 [GRCh38]
Chr15:91312422 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1487del (p.Leu496fs) deletion Bloom syndrome [RCV001386966] Chr15:90760858 [GRCh38]
Chr15:91304088 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.30G>A (p.Gln10=) single nucleotide variant Bloom syndrome [RCV001451882] Chr15:90747422 [GRCh38]
Chr15:91290652 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959+10C>A single nucleotide variant Bloom syndrome [RCV001478965] Chr15:90751956 [GRCh38]
Chr15:91295186 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2763C>T (p.Gly921=) single nucleotide variant Bloom syndrome [RCV001397702]|Hereditary cancer-predisposing syndrome [RCV003169972] Chr15:90785021 [GRCh38]
Chr15:91328251 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3822T>C (p.Tyr1274=) single nucleotide variant Bloom syndrome [RCV001393130]|Hereditary cancer-predisposing syndrome [RCV003298637] Chr15:90809207 [GRCh38]
Chr15:91352437 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-4A>G single nucleotide variant Bloom syndrome [RCV001417800] Chr15:90809133 [GRCh38]
Chr15:91352363 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3690G>A (p.Gly1230=) single nucleotide variant Bloom syndrome [RCV001419920]|Hereditary cancer-predisposing syndrome [RCV002350817] Chr15:90804298 [GRCh38]
Chr15:91347528 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3288A>G (p.Gly1096=) single nucleotide variant Bloom syndrome [RCV001498340]|Hereditary cancer-predisposing syndrome [RCV002324103] Chr15:90798267 [GRCh38]
Chr15:91341497 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.795A>G (p.Glu265=) single nucleotide variant Bloom syndrome [RCV001453625] Chr15:90750063 [GRCh38]
Chr15:91293293 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3834G>C (p.Val1278=) single nucleotide variant Bloom syndrome [RCV001451816] Chr15:90809219 [GRCh38]
Chr15:91352449 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3900C>T (p.Ser1300=) single nucleotide variant BLM-related disorder [RCV003900749]|Bloom syndrome [RCV001505305]|Hereditary cancer-predisposing syndrome [RCV002359135] Chr15:90811230 [GRCh38]
Chr15:91354460 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.960-8A>G single nucleotide variant Bloom syndrome [RCV001438498] Chr15:90754803 [GRCh38]
Chr15:91298033 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3057C>T (p.His1019=) single nucleotide variant Bloom syndrome [RCV001427793]|Hereditary cancer-predisposing syndrome [RCV002449157] Chr15:90794204 [GRCh38]
Chr15:91337434 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.138T>C (p.Asn46=) single nucleotide variant Bloom syndrome [RCV001429871]|Hereditary cancer-predisposing syndrome [RCV002395985] Chr15:90749406 [GRCh38]
Chr15:91292636 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1266T>C (p.Ser422=) single nucleotide variant Bloom syndrome [RCV001425551]|Hereditary cancer-predisposing syndrome [RCV002258248] Chr15:90760639 [GRCh38]
Chr15:91303869 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.826del (p.Glu276fs) deletion Bloom syndrome [RCV001389344] Chr15:90751812 [GRCh38]
Chr15:91295042 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.945T>C (p.Ser315=) single nucleotide variant Bloom syndrome [RCV001480704]|Hereditary cancer-predisposing syndrome [RCV002377826] Chr15:90751932 [GRCh38]
Chr15:91295162 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.9T>C (p.Ala3=) single nucleotide variant Bloom syndrome [RCV001505501]|Hereditary cancer-predisposing syndrome [RCV003298906] Chr15:90747401 [GRCh38]
Chr15:91290631 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1077A>G (p.Thr359=) single nucleotide variant Bloom syndrome [RCV001443806] Chr15:90754928 [GRCh38]
Chr15:91298158 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter) single nucleotide variant Bloom syndrome [RCV001380595] Chr15:90782858 [GRCh38]
Chr15:91326088 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1839T>C (p.Thr613=) single nucleotide variant Bloom syndrome [RCV001418610]|Hereditary cancer-predisposing syndrome [RCV002413995] Chr15:90761212 [GRCh38]
Chr15:91304442 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1279T>C (p.Leu427=) single nucleotide variant Bloom syndrome [RCV001499550] Chr15:90760652 [GRCh38]
Chr15:91303882 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1725A>G (p.Ala575=) single nucleotide variant Bloom syndrome [RCV001484016] Chr15:90761098 [GRCh38]
Chr15:91304328 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2757T>C (p.His919=) single nucleotide variant Bloom syndrome [RCV001505690] Chr15:90785015 [GRCh38]
Chr15:91328245 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.420A>G (p.Glu140=) single nucleotide variant Bloom syndrome [RCV001401257] Chr15:90749688 [GRCh38]
Chr15:91292918 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2706C>T (p.Asp902=) single nucleotide variant Bloom syndrome [RCV001471932] Chr15:90784964 [GRCh38]
Chr15:91328194 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-163_2824-159del deletion not provided [RCV001527950] Chr15:90790485..90790489 [GRCh38]
Chr15:91333715..91333719 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.561A>G (p.Lys187=) single nucleotide variant Bloom syndrome [RCV001398709]|Hereditary cancer-predisposing syndrome [RCV003346541] Chr15:90749829 [GRCh38]
Chr15:91293059 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-5A>G single nucleotide variant Bloom syndrome [RCV001468273] Chr15:90803516 [GRCh38]
Chr15:91346746 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.873T>C (p.Phe291=) single nucleotide variant Bloom syndrome [RCV001394405]|Hereditary cancer-predisposing syndrome [RCV002377586] Chr15:90751860 [GRCh38]
Chr15:91295090 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-7C>A single nucleotide variant Bloom syndrome [RCV001419264] Chr15:90804160 [GRCh38]
Chr15:91347390 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-1G>A single nucleotide variant Bloom syndrome [RCV001379778] Chr15:90762965 [GRCh38]
Chr15:91306195 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3741G>A (p.Lys1247=) single nucleotide variant Bloom syndrome [RCV001489532]|Hereditary cancer-predisposing syndrome [RCV002351013] Chr15:90804349 [GRCh38]
Chr15:91347579 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.87A>G (p.Lys29=) single nucleotide variant Bloom syndrome [RCV001472263]|not provided [RCV003389875] Chr15:90747479 [GRCh38]
Chr15:91290709 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2610G>A (p.Lys870=) single nucleotide variant Bloom syndrome [RCV001472455]|Hereditary cancer-predisposing syndrome [RCV002432321] Chr15:90782876 [GRCh38]
Chr15:91326106 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2979T>C (p.Tyr993=) single nucleotide variant Bloom syndrome [RCV001438973]|Hereditary cancer-predisposing syndrome [RCV002439029] Chr15:90790804 [GRCh38]
Chr15:91334034 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-8C>G single nucleotide variant Bloom syndrome [RCV001456645] Chr15:90803513 [GRCh38]
Chr15:91346743 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2793G>A (p.Gln931=) single nucleotide variant Bloom syndrome [RCV001399451]|Hereditary cancer-predisposing syndrome [RCV002438914] Chr15:90785051 [GRCh38]
Chr15:91328281 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2844A>G (p.Ala948=) single nucleotide variant BLM-related disorder [RCV003984347]|Bloom syndrome [RCV003108887] Chr15:90790669 [GRCh38]
Chr15:91333899 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr) single nucleotide variant Bloom syndrome [RCV003093921]|Hereditary cancer-predisposing syndrome [RCV002443273]|not specified [RCV002238623] Chr15:90794194 [GRCh38]
Chr15:91337424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.33G>A (p.Glu11=) single nucleotide variant Bloom syndrome [RCV003614091]|Hereditary cancer-predisposing syndrome [RCV002258455] Chr15:90747425 [GRCh38]
Chr15:91290655 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.90A>G (p.Pro30=) single nucleotide variant Bloom syndrome [RCV003094203]|Hereditary cancer-predisposing syndrome [RCV002258461] Chr15:90747482 [GRCh38]
Chr15:91290712 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3479dup (p.Tyr1160Ter) duplication Bloom syndrome [RCV004783560] Chr15:90803640..90803641 [GRCh38]
Chr15:91346870..91346871 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1317G>T (p.Met439Ile) single nucleotide variant Bloom syndrome [RCV005058179]|Hereditary cancer-predisposing syndrome [RCV002382483]|not specified [RCV002247099] Chr15:90760690 [GRCh38]
Chr15:91303920 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.2690C>G (p.Ser897Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948665]|not specified [RCV002271893] Chr15:90784948 [GRCh38]
Chr15:91328178 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3019+11C>A single nucleotide variant Bloom syndrome [RCV001761938]|not provided [RCV003237582] Chr15:90790855 [GRCh38]
Chr15:91334085 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000057.4(BLM):c.2075G>T (p.Gly692Val) single nucleotide variant Bloom syndrome [RCV003505195]|Hereditary cancer-predisposing syndrome [RCV002257012] Chr15:90765296 [GRCh38]
Chr15:91308526 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2755C>T (p.His919Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257037] Chr15:90785013 [GRCh38]
Chr15:91328243 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1195G>C (p.Glu399Gln) single nucleotide variant not provided [RCV003237585] Chr15:90760254 [GRCh38]
Chr15:91303484 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3102_3103del (p.Glu1035fs) deletion not provided [RCV003237581] Chr15:90794249..90794250 [GRCh38]
Chr15:91337479..91337480 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.397dup (p.Asp133fs) duplication Bloom syndrome [RCV001782245] Chr15:90749662..90749663 [GRCh38]
Chr15:91292892..91292893 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) single nucleotide variant Bloom syndrome [RCV001782196]|Hereditary cancer-predisposing syndrome [RCV002440874] Chr15:90747475 [GRCh38]
Chr15:91290705 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1341del (p.Asn448fs) deletion Bloom syndrome [RCV001782211]|Hereditary cancer-predisposing syndrome [RCV004040806] Chr15:90760712 [GRCh38]
Chr15:91303942 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2326C>G (p.Leu776Val) single nucleotide variant Bloom syndrome [RCV003772101]|not provided [RCV003237584] Chr15:90769151 [GRCh38]
Chr15:91312381 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr) single nucleotide variant Bloom syndrome [RCV001788947]|not provided [RCV003478876] Chr15:90769568 [GRCh38]
Chr15:91312798 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1088-176_1088-175del deletion not provided [RCV001797241] Chr15:90759957..90759958 [GRCh38]
Chr15:91303187..91303188 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1782A>G (p.Lys594=) single nucleotide variant not specified [RCV001817274] Chr15:90761155 [GRCh38]
Chr15:91304385 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4169C>T (p.Ser1390Leu) single nucleotide variant not specified [RCV001817971] Chr15:90815194 [GRCh38]
Chr15:91358424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup duplication Bloom syndrome [RCV001806713] Chr15:91326051..91334075 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2489C>T (p.Thr830Met) single nucleotide variant Bloom syndrome [RCV001869747]|Hereditary cancer-predisposing syndrome [RCV002425090]|not provided [RCV004692755]|not specified [RCV001822363] Chr15:90769520 [GRCh38]
Chr15:91312750 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.294A>C (p.Glu98Asp) single nucleotide variant not specified [RCV001817376] Chr15:90749562 [GRCh38]
Chr15:91292792 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2148G>A (p.Leu716=) single nucleotide variant Bloom syndrome [RCV003614090]|Hereditary cancer-predisposing syndrome [RCV002425091]|not specified [RCV001822545] Chr15:90765369 [GRCh38]
Chr15:91308599 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.*6G>A single nucleotide variant not provided [RCV003478880]|not specified [RCV001822638] Chr15:90815285 [GRCh38]
Chr15:91358515 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2729G>A (p.Arg910Lys) single nucleotide variant not specified [RCV001822723] Chr15:90784987 [GRCh38]
Chr15:91328217 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1373T>C (p.Leu458Pro) single nucleotide variant not provided [RCV004801825] Chr15:90760746 [GRCh38]
Chr15:91303976 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile) single nucleotide variant Bloom syndrome [RCV002542551]|Hereditary cancer-predisposing syndrome [RCV002449433]|not specified [RCV001819223] Chr15:90798241 [GRCh38]
Chr15:91341471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.540A>C (p.Val180=) single nucleotide variant Bloom syndrome [RCV002077301]|not specified [RCV001820287] Chr15:90749808 [GRCh38]
Chr15:91293038 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser) single nucleotide variant Bloom syndrome [RCV001885343]|Hereditary cancer-predisposing syndrome [RCV002458627]|not provided [RCV004785329]|not specified [RCV001820712] Chr15:90782860 [GRCh38]
Chr15:91326090 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.*9TC[1] microsatellite not specified [RCV001822811] Chr15:90815288..90815289 [GRCh38]
Chr15:91358518..91358519 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3935C>T (p.Ala1312Val) single nucleotide variant Bloom syndrome [RCV002024985]|Hereditary cancer-predisposing syndrome [RCV005301055] Chr15:90811265 [GRCh38]
Chr15:91354495 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2559del (p.Phe853fs) deletion Bloom syndrome [RCV001914325]|Hereditary cancer-predisposing syndrome [RCV004044062] Chr15:90782823 [GRCh38]
Chr15:91326053 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.211T>C (p.Phe71Leu) single nucleotide variant Bloom syndrome [RCV001988600] Chr15:90749479 [GRCh38]
Chr15:91292709 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter) single nucleotide variant Bloom syndrome [RCV001949630] Chr15:90794292 [GRCh38]
Chr15:91337522 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91290623)_(91512067_?)del deletion Bloom syndrome [RCV001949533] Chr15:91290623..91512067 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1805C>T (p.Ser602Leu) single nucleotide variant Bloom syndrome [RCV002025407] Chr15:90761178 [GRCh38]
Chr15:91304408 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4229T>G (p.Leu1410Arg) single nucleotide variant Bloom syndrome [RCV001988618] Chr15:90815254 [GRCh38]
Chr15:91358484 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter) single nucleotide variant Bloom syndrome [RCV001874514] Chr15:90785052 [GRCh38]
Chr15:91328282 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.489T>A (p.Ser163=) single nucleotide variant Bloom syndrome [RCV001929922] Chr15:90749757 [GRCh38]
Chr15:91292987 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe) single nucleotide variant Bloom syndrome [RCV001983395]|Hereditary cancer-predisposing syndrome [RCV002344122] Chr15:90809149 [GRCh38]
Chr15:91352379 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4139G>A (p.Ser1380Asn) single nucleotide variant Bloom syndrome [RCV002040427] Chr15:90815164 [GRCh38]
Chr15:91358394 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala) single nucleotide variant Bloom syndrome [RCV001928971]|Hereditary cancer-predisposing syndrome [RCV002331463] Chr15:90815178 [GRCh38]
Chr15:91358408 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.793G>C (p.Glu265Gln) single nucleotide variant Bloom syndrome [RCV001915219] Chr15:90750061 [GRCh38]
Chr15:91293291 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.524G>A (p.Ser175Asn) single nucleotide variant Bloom syndrome [RCV001875064]|Hereditary cancer-predisposing syndrome [RCV004946800] Chr15:90749792 [GRCh38]
Chr15:91293022 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3038A>G (p.His1013Arg) single nucleotide variant Bloom syndrome [RCV002022930]|Hereditary cancer-predisposing syndrome [RCV002441214] Chr15:90794185 [GRCh38]
Chr15:91337415 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1165G>C (p.Asp389His) single nucleotide variant Bloom syndrome [RCV001970640]|Hereditary cancer-predisposing syndrome [RCV002331548] Chr15:90760224 [GRCh38]
Chr15:91303454 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.437A>C (p.Asp146Ala) single nucleotide variant Bloom syndrome [RCV002008323] Chr15:90749705 [GRCh38]
Chr15:91292935 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3636A>C (p.Glu1212Asp) single nucleotide variant Bloom syndrome [RCV002008554]|Hereditary cancer-predisposing syndrome [RCV002460176] Chr15:90804244 [GRCh38]
Chr15:91347474 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91341448)_(91344889_?)del deletion Bloom syndrome [RCV002045159] Chr15:91341448..91344889 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.733G>A (p.Glu245Lys) single nucleotide variant Bloom syndrome [RCV002045335]|Hereditary cancer-predisposing syndrome [RCV004046063] Chr15:90750001 [GRCh38]
Chr15:91293231 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3758T>C (p.Leu1253Ser) single nucleotide variant Bloom syndrome [RCV001896247]|Hereditary cancer-predisposing syndrome [RCV002361180] Chr15:90809143 [GRCh38]
Chr15:91352373 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3078G>A (p.Met1026Ile) single nucleotide variant Bloom syndrome [RCV001971611] Chr15:90794225 [GRCh38]
Chr15:91337455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.182G>C (p.Arg61Thr) single nucleotide variant Bloom syndrome [RCV002045607]|Hereditary cancer-predisposing syndrome [RCV003303642] Chr15:90749450 [GRCh38]
Chr15:91292680 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2071A>T (p.Thr691Ser) single nucleotide variant Bloom syndrome [RCV001895219]|Hereditary cancer-predisposing syndrome [RCV002422960] Chr15:90763154 [GRCh38]
Chr15:91306384 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2493del (p.Thr832fs) deletion Bloom syndrome [RCV001874561] Chr15:90769523 [GRCh38]
Chr15:91312753 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3731T>C (p.Val1244Ala) single nucleotide variant Bloom syndrome [RCV002043894] Chr15:90804339 [GRCh38]
Chr15:91347569 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2837C>T (p.Thr946Ile) single nucleotide variant Bloom syndrome [RCV001914382]|Hereditary cancer-predisposing syndrome [RCV005308594] Chr15:90790662 [GRCh38]
Chr15:91333892 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3080T>C (p.Val1027Ala) single nucleotide variant Bloom syndrome [RCV002022220] Chr15:90794227 [GRCh38]
Chr15:91337457 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer) deletion Bloom syndrome [RCV001928458] Chr15:90747475 [GRCh38]
Chr15:91290705 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3478T>A (p.Tyr1160Asn) single nucleotide variant Bloom syndrome [RCV001914720]|Hereditary cancer-predisposing syndrome [RCV004041144] Chr15:90803640 [GRCh38]
Chr15:91346870 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3190G>A (p.Asp1064Asn) single nucleotide variant Bloom syndrome [RCV001908587] Chr15:90794337 [GRCh38]
Chr15:91337567 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1733A>C (p.Lys578Thr) single nucleotide variant Bloom syndrome [RCV002005732] Chr15:90761106 [GRCh38]
Chr15:91304336 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4175C>G (p.Ala1392Gly) single nucleotide variant Bloom syndrome [RCV001963849] Chr15:90815200 [GRCh38]
Chr15:91358430 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2084A>G (p.Lys695Arg) single nucleotide variant Bloom syndrome [RCV001971313]|Hereditary cancer-predisposing syndrome [RCV003170307] Chr15:90765305 [GRCh38]
Chr15:91308535 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.233C>G (p.Pro78Arg) single nucleotide variant Bloom syndrome [RCV002002829]|Hereditary cancer-predisposing syndrome [RCV005308639] Chr15:90749501 [GRCh38]
Chr15:91292731 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.113A>G (p.Lys38Arg) single nucleotide variant Bloom syndrome [RCV002002879] Chr15:90749381 [GRCh38]
Chr15:91292611 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1208A>G (p.Gln403Arg) single nucleotide variant Bloom syndrome [RCV002024913]|Hereditary cancer-predisposing syndrome [RCV002346316] Chr15:90760267 [GRCh38]
Chr15:91303497 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3917G>A (p.Gly1306Asp) single nucleotide variant Bloom syndrome [RCV002025013] Chr15:90811247 [GRCh38]
Chr15:91354477 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.827A>G (p.Glu276Gly) single nucleotide variant Bloom syndrome [RCV001864363] Chr15:90751814 [GRCh38]
Chr15:91295044 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2393A>G (p.His798Arg) single nucleotide variant Bloom syndrome [RCV002045540] Chr15:90769218 [GRCh38]
Chr15:91312448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg) single nucleotide variant Bloom syndrome [RCV001948331]|Hereditary cancer-predisposing syndrome [RCV002407102] Chr15:90761102 [GRCh38]
Chr15:91304332 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3324A>G (p.Arg1108=) single nucleotide variant Bloom syndrome [RCV001929687] Chr15:90798303 [GRCh38]
Chr15:91341533 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1724C>T (p.Ala575Val) single nucleotide variant Bloom syndrome [RCV002003133]|Hereditary cancer-predisposing syndrome [RCV002398057] Chr15:90761097 [GRCh38]
Chr15:91304327 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3121C>T (p.Leu1041Phe) single nucleotide variant Bloom syndrome [RCV001988062] Chr15:90794268 [GRCh38]
Chr15:91337498 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3900C>G (p.Ser1300Arg) single nucleotide variant Bloom syndrome [RCV001950331] Chr15:90811230 [GRCh38]
Chr15:91354460 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.566del (p.Gly189fs) deletion Bloom syndrome [RCV001949522] Chr15:90749832 [GRCh38]
Chr15:91293062 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1954A>G (p.Thr652Ala) single nucleotide variant Bloom syndrome [RCV001892283]|Hereditary cancer-predisposing syndrome [RCV002422957] Chr15:90763037 [GRCh38]
Chr15:91306267 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91295007)_(91295186_?)del deletion Bloom syndrome [RCV001912020] Chr15:91295007..91295186 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser) single nucleotide variant Bloom syndrome [RCV002039818] Chr15:90811309 [GRCh38]
Chr15:91354539 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1308T>G (p.Asp436Glu) single nucleotide variant Bloom syndrome [RCV001891142] Chr15:90760681 [GRCh38]
Chr15:91303911 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs) insertion Bloom syndrome [RCV002021882] Chr15:90761193..90761194 [GRCh38]
Chr15:91304423..91304424 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.113A>C (p.Lys38Thr) single nucleotide variant Bloom syndrome [RCV001968178]|Hereditary cancer-predisposing syndrome [RCV002458894] Chr15:90749381 [GRCh38]
Chr15:91292611 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1120C>G (p.His374Asp) single nucleotide variant Bloom syndrome [RCV001891299]|Hereditary cancer-predisposing syndrome [RCV004946842] Chr15:90760179 [GRCh38]
Chr15:91303409 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter) duplication Bloom syndrome [RCV001889951] Chr15:90765313..90765314 [GRCh38]
Chr15:91308543..91308544 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn) single nucleotide variant Bloom syndrome [RCV001908763]|Hereditary cancer-predisposing syndrome [RCV004042554] Chr15:90754858 [GRCh38]
Chr15:91298088 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2543T>G (p.Leu848Arg) single nucleotide variant Bloom syndrome [RCV001966328] Chr15:90769574 [GRCh38]
Chr15:91312804 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.993del (p.Glu332fs) deletion Bloom syndrome [RCV001946725] Chr15:90754841 [GRCh38]
Chr15:91298071 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2802G>T (p.Trp934Cys) single nucleotide variant Bloom syndrome [RCV001947205] Chr15:90785060 [GRCh38]
Chr15:91328290 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4193T>C (p.Ile1398Thr) single nucleotide variant Bloom syndrome [RCV002004176] Chr15:90815218 [GRCh38]
Chr15:91358448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.283G>A (p.Ala95Thr) single nucleotide variant Bloom syndrome [RCV002021531] Chr15:90749551 [GRCh38]
Chr15:91292781 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+5G>C single nucleotide variant Bloom syndrome [RCV001967990]|Hereditary cancer-predisposing syndrome [RCV002324384] Chr15:90798342 [GRCh38]
Chr15:91341572 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3880G>A (p.Asp1294Asn) single nucleotide variant Bloom syndrome [RCV001986098] Chr15:90811210 [GRCh38]
Chr15:91354440 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) deletion Bloom syndrome [RCV001893400]|Hereditary cancer-predisposing syndrome [RCV004041441] Chr15:90790813..90790817 [GRCh38]
Chr15:91334043..91334047 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser) single nucleotide variant Bloom syndrome [RCV001910461]|Hereditary cancer-predisposing syndrome [RCV002334893] Chr15:90803707 [GRCh38]
Chr15:91346937 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+16T>G single nucleotide variant Bloom syndrome [RCV002021593] Chr15:90750083 [GRCh38]
Chr15:91293313 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) single nucleotide variant Bloom syndrome [RCV001946986] Chr15:90809249 [GRCh38]
Chr15:91352479 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2536A>G (p.Lys846Glu) single nucleotide variant Bloom syndrome [RCV001945555] Chr15:90769567 [GRCh38]
Chr15:91312797 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3659G>C (p.Gly1220Ala) single nucleotide variant Bloom syndrome [RCV002022193] Chr15:90804267 [GRCh38]
Chr15:91347497 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr) single nucleotide variant Bloom syndrome [RCV002042133]|Hereditary cancer-predisposing syndrome [RCV002331351] Chr15:90749731 [GRCh38]
Chr15:91292961 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1535dup (p.Asn515fs) duplication Bloom syndrome [RCV001824247] Chr15:90760906..90760907 [GRCh38]
Chr15:91304136..91304137 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.713T>C (p.Ile238Thr) single nucleotide variant Bloom syndrome [RCV001945830]|Hereditary cancer-predisposing syndrome [RCV002361259] Chr15:90749981 [GRCh38]
Chr15:91293211 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly) single nucleotide variant Bloom syndrome [RCV001966936]|Hereditary cancer-predisposing syndrome [RCV002425351] Chr15:90782905 [GRCh38]
Chr15:91326135 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.99-8_112del deletion Bloom syndrome [RCV002042518]|Hereditary cancer-predisposing syndrome [RCV003170519] Chr15:90749356..90749377 [GRCh38]
Chr15:91292586..91292607 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1965G>C (p.Met655Ile) single nucleotide variant Bloom syndrome [RCV001965349]|Hereditary cancer-predisposing syndrome [RCV002423107] Chr15:90763048 [GRCh38]
Chr15:91306278 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.390del (p.Lys130fs) deletion Bloom syndrome [RCV001890241] Chr15:90749656 [GRCh38]
Chr15:91292886 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1928del (p.Arg643fs) deletion Bloom syndrome [RCV001909569] Chr15:90763011 [GRCh38]
Chr15:91306241 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1922A>T (p.His641Leu) single nucleotide variant Bloom syndrome [RCV001947718] Chr15:90763005 [GRCh38]
Chr15:91306235 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.570G>T (p.Lys190Asn) single nucleotide variant Bloom syndrome [RCV001968098]|Hereditary cancer-predisposing syndrome [RCV004946917] Chr15:90749838 [GRCh38]
Chr15:91293068 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.106A>G (p.Thr36Ala) single nucleotide variant Bloom syndrome [RCV002024609]|Hereditary cancer-predisposing syndrome [RCV002407317] Chr15:90749374 [GRCh38]
Chr15:91292604 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.564G>C (p.Lys188Asn) single nucleotide variant Bloom syndrome [RCV001913643] Chr15:90749832 [GRCh38]
Chr15:91293062 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.154G>A (p.Val52Met) single nucleotide variant Bloom syndrome [RCV002023018]|not provided [RCV003478923] Chr15:90749422 [GRCh38]
Chr15:91292652 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2503C>T (p.Pro835Ser) single nucleotide variant Bloom syndrome [RCV002024057]|Hereditary cancer-predisposing syndrome [RCV003348770]|not provided [RCV002466740] Chr15:90769534 [GRCh38]
Chr15:91312764 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.690G>T (p.Trp230Cys) single nucleotide variant Bloom syndrome [RCV001949131] Chr15:90749958 [GRCh38]
Chr15:91293188 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4009A>G (p.Lys1337Glu) single nucleotide variant Bloom syndrome [RCV002007883]|Hereditary cancer-predisposing syndrome [RCV005308642] Chr15:90811339 [GRCh38]
Chr15:91354569 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val) single nucleotide variant Bloom syndrome [RCV001968225]|Hereditary cancer-predisposing syndrome [RCV002324412] Chr15:90794275 [GRCh38]
Chr15:91337505 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2183C>A (p.Thr728Asn) single nucleotide variant Bloom syndrome [RCV001947907] Chr15:90765404 [GRCh38]
Chr15:91308634 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.757del (p.Gln253fs) deletion Bloom syndrome [RCV001894679] Chr15:90750025 [GRCh38]
Chr15:91293255 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn) single nucleotide variant Bloom syndrome [RCV002020462]|Hereditary cancer-predisposing syndrome [RCV002423238] Chr15:90763133 [GRCh38]
Chr15:91306363 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1361del (p.Asn454fs) deletion Bloom syndrome [RCV001946817] Chr15:90760732 [GRCh38]
Chr15:91303962 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2269G>C (p.Asp757His) single nucleotide variant Bloom syndrome [RCV002043078] Chr15:90766985 [GRCh38]
Chr15:91310215 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.11T>A (p.Val4Asp) single nucleotide variant Bloom syndrome [RCV001968253]|Hereditary cancer-predisposing syndrome [RCV004044456] Chr15:90747403 [GRCh38]
Chr15:91290633 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4058G>A (p.Ser1353Asn) single nucleotide variant Bloom syndrome [RCV001964309] Chr15:90811388 [GRCh38]
Chr15:91354618 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2415T>A (p.His805Gln) single nucleotide variant Bloom syndrome [RCV001966444] Chr15:90769446 [GRCh38]
Chr15:91312676 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.742A>G (p.Ile248Val) single nucleotide variant Bloom syndrome [RCV001913746]|Hereditary cancer-predisposing syndrome [RCV002386710] Chr15:90750010 [GRCh38]
Chr15:91293240 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val) single nucleotide variant Bloom syndrome [RCV001948911]|Hereditary cancer-predisposing syndrome [RCV002324371] Chr15:90794307 [GRCh38]
Chr15:91337537 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2077G>A (p.Gly693Ser) single nucleotide variant Bloom syndrome [RCV002040789] Chr15:90765298 [GRCh38]
Chr15:91308528 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3247A>C (p.Ser1083Arg) single nucleotide variant Bloom syndrome [RCV001966751] Chr15:90798226 [GRCh38]
Chr15:91341456 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg) single nucleotide variant Bloom syndrome [RCV001890104]|Hereditary cancer-predisposing syndrome [RCV002397826] Chr15:90760937 [GRCh38]
Chr15:91304167 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1322G>T (p.Gly441Val) single nucleotide variant Bloom syndrome [RCV001873043] Chr15:90760695 [GRCh38]
Chr15:91303925 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2662+18A>G single nucleotide variant Bloom syndrome [RCV002044088] Chr15:90782946 [GRCh38]
Chr15:91326176 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3558+6G>A single nucleotide variant Bloom syndrome [RCV002043804] Chr15:90803726 [GRCh38]
Chr15:91346956 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1105C>A (p.Gln369Lys) single nucleotide variant Bloom syndrome [RCV001987431] Chr15:90760164 [GRCh38]
Chr15:91303394 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1147A>G (p.Ile383Val) single nucleotide variant Bloom syndrome [RCV001966964]|not specified [RCV002246631] Chr15:90760206 [GRCh38]
Chr15:91303436 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter) single nucleotide variant Bloom syndrome [RCV001893678] Chr15:90761105 [GRCh38]
Chr15:91304335 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1882+20A>T single nucleotide variant Bloom syndrome [RCV001908988] Chr15:90761275 [GRCh38]
Chr15:91304505 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.203C>A (p.Thr68Asn) single nucleotide variant Bloom syndrome [RCV002023486]|Hereditary cancer-predisposing syndrome [RCV002423269] Chr15:90749471 [GRCh38]
Chr15:91292701 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr) single nucleotide variant Bloom syndrome [RCV001913128]|Hereditary cancer-predisposing syndrome [RCV002386696] Chr15:90754848 [GRCh38]
Chr15:91298078 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1715A>C (p.His572Pro) single nucleotide variant Bloom syndrome [RCV001987501]|Hereditary cancer-predisposing syndrome [RCV005301030] Chr15:90761088 [GRCh38]
Chr15:91304318 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3509A>C (p.Tyr1170Ser) single nucleotide variant Bloom syndrome [RCV002022137] Chr15:90803671 [GRCh38]
Chr15:91346901 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 copy number loss not provided [RCV001827973] Chr15:89520451..93926491 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.919G>T (p.Glu307Ter) single nucleotide variant Bloom syndrome [RCV002039725] Chr15:90751906 [GRCh38]
Chr15:91295136 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3953A>G (p.Glu1318Gly) single nucleotide variant Bloom syndrome [RCV002005834]|Hereditary cancer-predisposing syndrome [RCV004043249] Chr15:90811283 [GRCh38]
Chr15:91354513 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91310130)_(91312471_?)dup duplication Bloom syndrome [RCV001909611] Chr15:91310130..91312471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2824-3C>T single nucleotide variant Bloom syndrome [RCV001967171] Chr15:90790646 [GRCh38]
Chr15:91333876 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1349T>C (p.Met450Thr) single nucleotide variant Bloom syndrome [RCV001985138] Chr15:90760722 [GRCh38]
Chr15:91303952 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3287G>A (p.Gly1096Glu) single nucleotide variant Bloom syndrome [RCV002042636] Chr15:90798266 [GRCh38]
Chr15:91341496 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2579del (p.His860fs) deletion Bloom syndrome [RCV002007426] Chr15:90782845 [GRCh38]
Chr15:91326075 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.623del (p.Leu208fs) deletion Bloom syndrome [RCV001947598] Chr15:90749889 [GRCh38]
Chr15:91293119 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.244A>T (p.Asn82Tyr) single nucleotide variant Bloom syndrome [RCV001968002] Chr15:90749512 [GRCh38]
Chr15:91292742 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2323A>G (p.Arg775Gly) single nucleotide variant Bloom syndrome [RCV005095317]|not specified [RCV001844627] Chr15:90769148 [GRCh38]
Chr15:91312378 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3750A>G (p.Ala1250=) single nucleotide variant Bloom syndrome [RCV001966083] Chr15:90804358 [GRCh38]
Chr15:91347588 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3887C>T (p.Ser1296Phe) single nucleotide variant Bloom syndrome [RCV001985721] Chr15:90811217 [GRCh38]
Chr15:91354447 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2911G>A (p.Glu971Lys) single nucleotide variant Bloom syndrome [RCV001948269] Chr15:90790736 [GRCh38]
Chr15:91333966 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) insertion Bloom syndrome [RCV001890248] Chr15:90761001..90761002 [GRCh38]
Chr15:91304231..91304232 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1955C>G (p.Thr652Arg) single nucleotide variant Bloom syndrome [RCV001964746] Chr15:90763038 [GRCh38]
Chr15:91306268 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile) single nucleotide variant Bloom syndrome [RCV001889856]|Hereditary cancer-predisposing syndrome [RCV003303271] Chr15:90769559 [GRCh38]
Chr15:91312789 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) single nucleotide variant Bloom syndrome [RCV002021875] Chr15:90804286 [GRCh38]
Chr15:91347516 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1802C>G (p.Ser601Cys) single nucleotide variant Bloom syndrome [RCV002022299]|Hereditary cancer-predisposing syndrome [RCV004042447] Chr15:90761175 [GRCh38]
Chr15:91304405 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2273C>T (p.Pro758Leu) single nucleotide variant Bloom syndrome [RCV002042345]|Hereditary cancer-predisposing syndrome [RCV002449463] Chr15:90766989 [GRCh38]
Chr15:91310219 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.790G>A (p.Asp264Asn) single nucleotide variant Bloom syndrome [RCV001967647]|Hereditary cancer-predisposing syndrome [RCV002256866] Chr15:90750058 [GRCh38]
Chr15:91293288 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4181G>A (p.Ser1394Asn) single nucleotide variant Bloom syndrome [RCV002003117]|Hereditary cancer-predisposing syndrome [RCV005301058] Chr15:90815206 [GRCh38]
Chr15:91358436 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91358322)_(91358519_?)del deletion Bloom syndrome [RCV002040750] Chr15:91358322..91358519 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4171G>A (p.Gly1391Arg) single nucleotide variant Bloom syndrome [RCV001945876] Chr15:90815196 [GRCh38]
Chr15:91358426 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91341410)_(91341577_?)dup duplication Bloom syndrome [RCV002037560] Chr15:91341410..91341577 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1685A>T (p.Asp562Val) single nucleotide variant Bloom syndrome [RCV001962362] Chr15:90761058 [GRCh38]
Chr15:91304288 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4162G>A (p.Ala1388Thr) single nucleotide variant Bloom syndrome [RCV001962852]|not provided [RCV004999558] Chr15:90815187 [GRCh38]
Chr15:91358417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2560A>G (p.Ser854Gly) single nucleotide variant Bloom syndrome [RCV001943867] Chr15:90782826 [GRCh38]
Chr15:91326056 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3345C>G (p.Val1115=) single nucleotide variant Bloom syndrome [RCV001924210] Chr15:90798324 [GRCh38]
Chr15:91341554 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.967A>C (p.Lys323Gln) single nucleotide variant Bloom syndrome [RCV001887659] Chr15:90754818 [GRCh38]
Chr15:91298048 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.278C>A (p.Ala93Asp) single nucleotide variant Bloom syndrome [RCV001989728] Chr15:90749546 [GRCh38]
Chr15:91292776 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1939C>T (p.Leu647Phe) single nucleotide variant Bloom syndrome [RCV001944486] Chr15:90763022 [GRCh38]
Chr15:91306252 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2465C>G (p.Pro822Arg) single nucleotide variant Bloom syndrome [RCV002018292] Chr15:90769496 [GRCh38]
Chr15:91312726 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1021C>T (p.Leu341Phe) single nucleotide variant Bloom syndrome [RCV001975407] Chr15:90754872 [GRCh38]
Chr15:91298102 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2900del (p.Pro967fs) deletion Bloom syndrome [RCV001999798] Chr15:90790723 [GRCh38]
Chr15:91333953 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3367A>T (p.Ser1123Cys) single nucleotide variant Bloom syndrome [RCV001880457] Chr15:90803529 [GRCh38]
Chr15:91346759 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.779C>A (p.Thr260Asn) single nucleotide variant Bloom syndrome [RCV001922261] Chr15:90750047 [GRCh38]
Chr15:91293277 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2185T>G (p.Ser729Ala) single nucleotide variant Bloom syndrome [RCV001883895] Chr15:90765406 [GRCh38]
Chr15:91308636 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.561A>C (p.Lys187Asn) single nucleotide variant Bloom syndrome [RCV001888128]|Hereditary cancer-predisposing syndrome [RCV004041083] Chr15:90749829 [GRCh38]
Chr15:91293059 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.960-3C>T single nucleotide variant Bloom syndrome [RCV001961672]|Hereditary cancer-predisposing syndrome [RCV003303530] Chr15:90754808 [GRCh38]
Chr15:91298038 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter) single nucleotide variant Bloom syndrome [RCV001944778] Chr15:90760862 [GRCh38]
Chr15:91304092 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.800-6C>A single nucleotide variant Bloom syndrome [RCV002010674] Chr15:90751781 [GRCh38]
Chr15:91295011 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu) single nucleotide variant Bloom syndrome [RCV001981928]|Hereditary cancer-predisposing syndrome [RCV002423087] Chr15:90765388 [GRCh38]
Chr15:91308618 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.10G>C (p.Val4Leu) single nucleotide variant Bloom syndrome [RCV002001300] Chr15:90747402 [GRCh38]
Chr15:91290632 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+16T>C single nucleotide variant Bloom syndrome [RCV002184905] Chr15:90798353 [GRCh38]
Chr15:91341583 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3265C>G (p.Gln1089Glu) single nucleotide variant Bloom syndrome [RCV001882376] Chr15:90798244 [GRCh38]
Chr15:91341474 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly) single nucleotide variant Bloom syndrome [RCV001886613]|Hereditary cancer-predisposing syndrome [RCV003166951] Chr15:90815110 [GRCh38]
Chr15:91358340 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1439C>T (p.Ser480Phe) single nucleotide variant Bloom syndrome [RCV002038956] Chr15:90760812 [GRCh38]
Chr15:91304042 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1287A>T (p.Arg429Ser) single nucleotide variant Bloom syndrome [RCV002029887] Chr15:90760660 [GRCh38]
Chr15:91303890 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.338A>G (p.Gln113Arg) single nucleotide variant Bloom syndrome [RCV001907324] Chr15:90749606 [GRCh38]
Chr15:91292836 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val) single nucleotide variant Bloom syndrome [RCV002039031]|Hereditary cancer-predisposing syndrome [RCV004044823] Chr15:90803622 [GRCh38]
Chr15:91346852 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2131_2132del (p.Val711fs) deletion Bloom syndrome [RCV001904489] Chr15:90765351..90765352 [GRCh38]
Chr15:91308581..91308582 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.917A>G (p.Glu306Gly) single nucleotide variant Bloom syndrome [RCV002027372] Chr15:90751904 [GRCh38]
Chr15:91295134 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter) insertion Bloom syndrome [RCV001999998] Chr15:90760662..90760663 [GRCh38]
Chr15:91303892..91303893 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.983C>T (p.Ser328Phe) single nucleotide variant Bloom syndrome [RCV001888228]|Hereditary cancer-predisposing syndrome [RCV004946808] Chr15:90754834 [GRCh38]
Chr15:91298064 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91333859)_(91334094_?)del deletion Bloom syndrome [RCV001953523] Chr15:91333859..91334094 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1261G>T (p.Ala421Ser) single nucleotide variant Bloom syndrome [RCV001961446]|Hereditary cancer-predisposing syndrome [RCV002442963] Chr15:90760634 [GRCh38]
Chr15:91303864 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3148T>C (p.Phe1050Leu) single nucleotide variant Bloom syndrome [RCV001961498] Chr15:90794295 [GRCh38]
Chr15:91337525 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter) single nucleotide variant Bloom syndrome [RCV001943383] Chr15:90811357 [GRCh38]
Chr15:91354587 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3491A>G (p.Asn1164Ser) single nucleotide variant Bloom syndrome [RCV001938055]|Hereditary cancer-predisposing syndrome [RCV002458779] Chr15:90803653 [GRCh38]
Chr15:91346883 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2555+14C>T single nucleotide variant Bloom syndrome [RCV001999823] Chr15:90769600 [GRCh38]
Chr15:91312830 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.130G>T (p.Asp44Tyr) single nucleotide variant Bloom syndrome [RCV001958283] Chr15:90749398 [GRCh38]
Chr15:91292628 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs) deletion Bloom syndrome [RCV002037872] Chr15:90761237..90761238 [GRCh38]
Chr15:91304467..91304468 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3136G>C (p.Gly1046Arg) single nucleotide variant Bloom syndrome [RCV002001398] Chr15:90794283 [GRCh38]
Chr15:91337513 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2377G>A (p.Val793Ile) single nucleotide variant Bloom syndrome [RCV001958317]|Hereditary cancer-predisposing syndrome [RCV004043731] Chr15:90769202 [GRCh38]
Chr15:91312432 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2755C>A (p.His919Asn) single nucleotide variant Bloom syndrome [RCV001979455]|Hereditary cancer-predisposing syndrome [RCV004946949] Chr15:90785013 [GRCh38]
Chr15:91328243 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3559G>C (p.Val1187Leu) single nucleotide variant Bloom syndrome [RCV001887003] Chr15:90804167 [GRCh38]
Chr15:91347397 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3874+17G>T single nucleotide variant Bloom syndrome [RCV002037942] Chr15:90809276 [GRCh38]
Chr15:91352506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407T>A (p.Trp803Arg) single nucleotide variant Bloom syndrome [RCV002001049] Chr15:90769438 [GRCh38]
Chr15:91312668 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1781A>T (p.Lys594Ile) single nucleotide variant Bloom syndrome [RCV001942955] Chr15:90761154 [GRCh38]
Chr15:91304384 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.806G>A (p.Ser269Asn) single nucleotide variant Bloom syndrome [RCV002020168]|not provided [RCV004794571] Chr15:90751793 [GRCh38]
Chr15:91295023 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1661A>T (p.Asp554Val) single nucleotide variant Bloom syndrome [RCV001943539]|Hereditary cancer-predisposing syndrome [RCV002388842] Chr15:90761034 [GRCh38]
Chr15:91304264 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer) deletion Bloom syndrome [RCV001941614] Chr15:90760149..90760152 [GRCh38]
Chr15:91303379..91303382 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3760T>G (p.Ser1254Ala) single nucleotide variant Bloom syndrome [RCV001924049]|Hereditary cancer-predisposing syndrome [RCV002344059] Chr15:90809145 [GRCh38]
Chr15:91352375 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1678G>C (p.Asp560His) single nucleotide variant Bloom syndrome [RCV002027926]|Hereditary cancer-predisposing syndrome [RCV002398124] Chr15:90761051 [GRCh38]
Chr15:91304281 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1330T>G (p.Cys444Gly) single nucleotide variant Bloom syndrome [RCV001952771] Chr15:90760703 [GRCh38]
Chr15:91303933 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) single nucleotide variant Bloom syndrome [RCV001903058] Chr15:90782861 [GRCh38]
Chr15:91326091 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr) single nucleotide variant Bloom syndrome [RCV002035779]|Hereditary cancer-predisposing syndrome [RCV003161163] Chr15:90760276 [GRCh38]
Chr15:91303506 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91326042)_(91358509_?)del deletion Bloom syndrome [RCV002037522] Chr15:91326042..91358509 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) single nucleotide variant Bloom syndrome [RCV001941705]|Hereditary cancer-predisposing syndrome [RCV004946936] Chr15:90784983 [GRCh38]
Chr15:91328213 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4078G>A (p.Gly1360Arg) single nucleotide variant Bloom syndrome [RCV001887996]|Hereditary cancer-predisposing syndrome [RCV003164067] Chr15:90815103 [GRCh38]
Chr15:91358333 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3229G>T (p.Val1077Leu) single nucleotide variant Bloom syndrome [RCV002038828] Chr15:90798208 [GRCh38]
Chr15:91341438 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+1G>A single nucleotide variant Bloom syndrome [RCV002012726] Chr15:90804360 [GRCh38]
Chr15:91347590 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn) single nucleotide variant Bloom syndrome [RCV001976316]|Hereditary cancer-predisposing syndrome [RCV004042292] Chr15:90760213 [GRCh38]
Chr15:91303443 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs) insertion Bloom syndrome [RCV001951557] Chr15:90766922..90766923 [GRCh38]
Chr15:91310152..91310153 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1882+1G>C single nucleotide variant Bloom syndrome [RCV002010406] Chr15:90761256 [GRCh38]
Chr15:91304486 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3110G>A (p.Arg1037Lys) single nucleotide variant Bloom syndrome [RCV002049333] Chr15:90794257 [GRCh38]
Chr15:91337487 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3668C>T (p.Thr1223Ile) single nucleotide variant Bloom syndrome [RCV001989846]|Hereditary cancer-predisposing syndrome [RCV004603108] Chr15:90804276 [GRCh38]
Chr15:91347506 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val) single nucleotide variant Bloom syndrome [RCV002013181]|Hereditary cancer-predisposing syndrome [RCV002346270] Chr15:90809163 [GRCh38]
Chr15:91352393 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2411del (p.Gly804fs) deletion Bloom syndrome [RCV001882990] Chr15:90769439 [GRCh38]
Chr15:91312669 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2818dup (p.Cys940fs) duplication Bloom syndrome [RCV001935138] Chr15:90785075..90785076 [GRCh38]
Chr15:91328305..91328306 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2900C>A (p.Pro967His) single nucleotide variant Bloom syndrome [RCV001935357] Chr15:90790725 [GRCh38]
Chr15:91333955 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3406_3407delinsTT (p.Ala1136Phe) indel Bloom syndrome [RCV001898186]|not provided [RCV004801079] Chr15:90803568..90803569 [GRCh38]
Chr15:91346798..91346799 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4232A>T (p.Lys1411Met) single nucleotide variant Bloom syndrome [RCV001934150]|Hereditary cancer-predisposing syndrome [RCV002331495] Chr15:90815257 [GRCh38]
Chr15:91358487 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3681dup (p.Ser1228fs) duplication Bloom syndrome [RCV001955979] Chr15:90804286..90804287 [GRCh38]
Chr15:91347516..91347517 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1956A>G (p.Thr652=) single nucleotide variant Bloom syndrome [RCV001956533]|Hereditary cancer-predisposing syndrome [RCV002423146] Chr15:90763039 [GRCh38]
Chr15:91306269 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.885T>A (p.Asp295Glu) single nucleotide variant Bloom syndrome [RCV001882365] Chr15:90751872 [GRCh38]
Chr15:91295102 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly) single nucleotide variant Bloom syndrome [RCV002033399]|Hereditary cancer-predisposing syndrome [RCV002324225] Chr15:90798233 [GRCh38]
Chr15:91341463 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.672G>C (p.Gln224His) single nucleotide variant Bloom syndrome [RCV002049625] Chr15:90749940 [GRCh38]
Chr15:91293170 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1484A>G (p.His495Arg) single nucleotide variant Bloom syndrome [RCV001920691] Chr15:90760857 [GRCh38]
Chr15:91304087 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.620A>T (p.Asp207Val) single nucleotide variant Bloom syndrome [RCV001953386]|Hereditary cancer-predisposing syndrome [RCV002361281] Chr15:90749888 [GRCh38]
Chr15:91293118 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3015_3017del (p.Ile1005del) deletion Bloom syndrome [RCV001977505] Chr15:90790838..90790840 [GRCh38]
Chr15:91334068..91334070 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.470T>G (p.Met157Arg) single nucleotide variant Bloom syndrome [RCV002047292]|Hereditary cancer-predisposing syndrome [RCV004038923] Chr15:90749738 [GRCh38]
Chr15:91292968 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2884A>T (p.Ile962Phe) single nucleotide variant Bloom syndrome [RCV001936557]|Hereditary cancer-predisposing syndrome [RCV002441059] Chr15:90790709 [GRCh38]
Chr15:91333939 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.56G>A (p.Arg19Lys) single nucleotide variant Bloom syndrome [RCV001934232] Chr15:90747448 [GRCh38]
Chr15:91290678 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs) duplication Bloom syndrome [RCV001897202] Chr15:90765380..90765381 [GRCh38]
Chr15:91308610..91308611 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2407-20G>A single nucleotide variant Bloom syndrome [RCV001953565] Chr15:90769418 [GRCh38]
Chr15:91312648 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.985G>A (p.Asp329Asn) single nucleotide variant Bloom syndrome [RCV001954794]|Hereditary cancer-predisposing syndrome [RCV004946887] Chr15:90754836 [GRCh38]
Chr15:91298066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.43C>A (p.Arg15Ser) single nucleotide variant Bloom syndrome [RCV001990389]|Hereditary cancer-predisposing syndrome [RCV003303521] Chr15:90747435 [GRCh38]
Chr15:91290665 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu) single nucleotide variant Bloom syndrome [RCV001899742]|Hereditary cancer-predisposing syndrome [RCV002359300]|Ovarian cancer [RCV003154205]|not provided [RCV004762205] Chr15:90811278 [GRCh38]
Chr15:91354508 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.1573C>G (p.Leu525Val) single nucleotide variant Bloom syndrome [RCV002048631] Chr15:90760946 [GRCh38]
Chr15:91304176 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3317C>T (p.Ser1106Phe) single nucleotide variant Bloom syndrome [RCV002046179] Chr15:90798296 [GRCh38]
Chr15:91341526 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4239A>G (p.Ser1413=) single nucleotide variant Bloom syndrome [RCV002028849] Chr15:90815264 [GRCh38]
Chr15:91358494 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1157T>G (p.Ile386Ser) single nucleotide variant Bloom syndrome [RCV002030116] Chr15:90760216 [GRCh38]
Chr15:91303446 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser) single nucleotide variant Bloom syndrome [RCV001881946]|Hereditary cancer-predisposing syndrome [RCV003166977] Chr15:90760623 [GRCh38]
Chr15:91303853 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2131G>A (p.Val711Ile) single nucleotide variant Bloom syndrome [RCV001934363]|Hereditary cancer-predisposing syndrome [RCV002423105] Chr15:90765352 [GRCh38]
Chr15:91308582 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4076+1G>C single nucleotide variant Bloom syndrome [RCV001975963] Chr15:90811407 [GRCh38]
Chr15:91354637 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.819G>T (p.Lys273Asn) single nucleotide variant Bloom syndrome [RCV001930575]|Hereditary cancer-predisposing syndrome [RCV002425239] Chr15:90751806 [GRCh38]
Chr15:91295036 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3875-2A>T single nucleotide variant Bloom syndrome [RCV002011275] Chr15:90811203 [GRCh38]
Chr15:91354433 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1541A>T (p.Lys514Ile) single nucleotide variant Bloom syndrome [RCV002013870]|Hereditary cancer-predisposing syndrome [RCV004947036] Chr15:90760914 [GRCh38]
Chr15:91304144 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn) single nucleotide variant Bloom syndrome [RCV002047845]|Hereditary cancer-predisposing syndrome [RCV002425403]|not provided [RCV002479746] Chr15:90784974 [GRCh38]
Chr15:91328204 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1541A>G (p.Lys514Arg) single nucleotide variant Bloom syndrome [RCV002012669] Chr15:90760914 [GRCh38]
Chr15:91304144 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3188G>A (p.Cys1063Tyr) single nucleotide variant Bloom syndrome [RCV001956819] Chr15:90794335 [GRCh38]
Chr15:91337565 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) single nucleotide variant Bloom syndrome [RCV001916169]|Hereditary cancer-predisposing syndrome [RCV004946865] Chr15:90809248 [GRCh38]
Chr15:91352478 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2347C>T (p.Leu783Phe) single nucleotide variant Bloom syndrome [RCV001932150]|Hereditary cancer-predisposing syndrome [RCV002425132] Chr15:90769172 [GRCh38]
Chr15:91312402 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.862T>A (p.Cys288Ser) single nucleotide variant Bloom syndrome [RCV002047882] Chr15:90751849 [GRCh38]
Chr15:91295079 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.209A>G (p.Asp70Gly) single nucleotide variant Bloom syndrome [RCV002033301] Chr15:90749477 [GRCh38]
Chr15:91292707 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1127T>C (p.Met376Thr) single nucleotide variant Bloom syndrome [RCV001916307] Chr15:90760186 [GRCh38]
Chr15:91303416 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1626C>A (p.Asp542Glu) single nucleotide variant Bloom syndrome [RCV001990874] Chr15:90760999 [GRCh38]
Chr15:91304229 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3640A>T (p.Met1214Leu) single nucleotide variant Bloom syndrome [RCV001867102] Chr15:90804248 [GRCh38]
Chr15:91347478 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2695C>G (p.Arg899Gly) single nucleotide variant Bloom syndrome [RCV001979363]|Hereditary cancer-predisposing syndrome [RCV002425335] Chr15:90784953 [GRCh38]
Chr15:91328183 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2491G>A (p.Ala831Thr) single nucleotide variant Bloom syndrome [RCV002034175] Chr15:90769522 [GRCh38]
Chr15:91312752 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2980del (p.Thr994fs) deletion Bloom syndrome [RCV001900353] Chr15:90790805 [GRCh38]
Chr15:91334035 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.462G>C (p.Trp154Cys) single nucleotide variant Bloom syndrome [RCV001954254] Chr15:90749730 [GRCh38]
Chr15:91292960 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2191G>A (p.Asp731Asn) single nucleotide variant Bloom syndrome [RCV001878671] Chr15:90765412 [GRCh38]
Chr15:91308642 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2823+2T>A single nucleotide variant Bloom syndrome [RCV002014207] Chr15:90785083 [GRCh38]
Chr15:91328313 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.556T>C (p.Ser186Pro) single nucleotide variant Bloom syndrome [RCV001934952]|Hereditary cancer-predisposing syndrome [RCV002343920] Chr15:90749824 [GRCh38]
Chr15:91293054 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.411_413del (p.Lys138del) deletion Bloom syndrome [RCV001885679] Chr15:90749677..90749679 [GRCh38]
Chr15:91292907..91292909 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.74T>G (p.Leu25Ter) single nucleotide variant Bloom syndrome [RCV001878750] Chr15:90747466 [GRCh38]
Chr15:91290696 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1020T>A (p.Asp340Glu) single nucleotide variant Bloom syndrome [RCV001976602] Chr15:90754871 [GRCh38]
Chr15:91298101 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2102T>G (p.Leu701Arg) single nucleotide variant Bloom syndrome [RCV001992336] Chr15:90765323 [GRCh38]
Chr15:91308553 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly) single nucleotide variant Bloom syndrome [RCV001979429]|Hereditary cancer-predisposing syndrome [RCV003170226] Chr15:90798191 [GRCh38]
Chr15:91341421 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.706A>C (p.Ile236Leu) single nucleotide variant Bloom syndrome [RCV001937864] Chr15:90749974 [GRCh38]
Chr15:91293204 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.452T>A (p.Ile151Asn) single nucleotide variant Bloom syndrome [RCV001924505] Chr15:90749720 [GRCh38]
Chr15:91292950 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr) single nucleotide variant Bloom syndrome [RCV002014384]|Hereditary cancer-predisposing syndrome [RCV002331622] Chr15:90815245 [GRCh38]
Chr15:91358475 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.369A>G (p.Gln123=) single nucleotide variant Bloom syndrome [RCV001996472] Chr15:90749637 [GRCh38]
Chr15:91292867 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2182A>G (p.Thr728Ala) single nucleotide variant Bloom syndrome [RCV001923920] Chr15:90765403 [GRCh38]
Chr15:91308633 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr) single nucleotide variant Bloom syndrome [RCV001938478]|Hereditary cancer-predisposing syndrome [RCV003303390] Chr15:90785032 [GRCh38]
Chr15:91328262 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220G>T (p.Arg407Ile) single nucleotide variant Bloom syndrome [RCV001998233] Chr15:90760279 [GRCh38]
Chr15:91303509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu) single nucleotide variant Bloom syndrome [RCV002035594]|Hereditary cancer-predisposing syndrome [RCV002441181] Chr15:90784993 [GRCh38]
Chr15:91328223 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3271C>A (p.His1091Asn) single nucleotide variant Bloom syndrome [RCV001972917]|Hereditary cancer-predisposing syndrome [RCV002442961]|not provided [RCV005241485] Chr15:90798250 [GRCh38]
Chr15:91341480 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2686C>G (p.Leu896Val) single nucleotide variant Bloom syndrome [RCV001979504]|Hereditary cancer-predisposing syndrome [RCV003375496] Chr15:90784944 [GRCh38]
Chr15:91328174 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn) single nucleotide variant Bloom syndrome [RCV001939744]|Hereditary cancer-predisposing syndrome [RCV002388803] Chr15:90760881 [GRCh38]
Chr15:91304111 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3385G>C (p.Gly1129Arg) single nucleotide variant Bloom syndrome [RCV002050934]|Hereditary cancer-predisposing syndrome [RCV002458647] Chr15:90803547 [GRCh38]
Chr15:91346777 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1394C>A (p.Pro465His) single nucleotide variant Bloom syndrome [RCV001991227]|Hereditary cancer-predisposing syndrome [RCV002388975] Chr15:90760767 [GRCh38]
Chr15:91303997 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1949C>T (p.Pro650Leu) single nucleotide variant Bloom syndrome [RCV001955885]|not specified [RCV004699576] Chr15:90763032 [GRCh38]
Chr15:91306262 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+3A>T single nucleotide variant Bloom syndrome [RCV001899483] Chr15:90794360 [GRCh38]
Chr15:91337590 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) deletion Bloom syndrome [RCV001881481]|Hereditary cancer-predisposing syndrome [RCV004041392] Chr15:90760780..90760783 [GRCh38]
Chr15:91304010..91304013 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1589T>C (p.Val530Ala) single nucleotide variant Bloom syndrome [RCV001980146]|Hereditary cancer-predisposing syndrome [RCV002258339] Chr15:90760962 [GRCh38]
Chr15:91304192 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1211G>T (p.Arg404Leu) single nucleotide variant Bloom syndrome [RCV001906525] Chr15:90760270 [GRCh38]
Chr15:91303500 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1459T>C (p.Phe487Leu) single nucleotide variant Bloom syndrome [RCV001876574]|Hereditary cancer-predisposing syndrome [RCV004039032] Chr15:90760832 [GRCh38]
Chr15:91304062 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4231A>T (p.Lys1411Ter) single nucleotide variant Bloom syndrome [RCV001998426]|Hereditary cancer-predisposing syndrome [RCV002331558] Chr15:90815256 [GRCh38]
Chr15:91358486 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.855del (p.Val286fs) deletion Bloom syndrome [RCV001950849] Chr15:90751840 [GRCh38]
Chr15:91295070 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3786A>G (p.Gln1262=) single nucleotide variant Bloom syndrome [RCV002028665]|Hereditary cancer-predisposing syndrome [RCV002346277] Chr15:90809171 [GRCh38]
Chr15:91352401 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.469A>G (p.Met157Val) single nucleotide variant Bloom syndrome [RCV001990230]|Hereditary cancer-predisposing syndrome [RCV004946933] Chr15:90749737 [GRCh38]
Chr15:91292967 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2483C>T (p.Ala828Val) single nucleotide variant Bloom syndrome [RCV001918247]|Hereditary cancer-predisposing syndrome [RCV002425223] Chr15:90769514 [GRCh38]
Chr15:91312744 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3046A>G (p.Arg1016Gly) single nucleotide variant Bloom syndrome [RCV001977934] Chr15:90794193 [GRCh38]
Chr15:91337423 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs) deletion Bloom syndrome [RCV001996650] Chr15:90761164..90761167 [GRCh38]
Chr15:91304394..91304397 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter) single nucleotide variant Bloom syndrome [RCV001981961] Chr15:90809143 [GRCh38]
Chr15:91352373 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3514A>C (p.Met1172Leu) single nucleotide variant Bloom syndrome [RCV001992923]|Hereditary cancer-predisposing syndrome [RCV002458877] Chr15:90803676 [GRCh38]
Chr15:91346906 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751G>A (p.Glu1251Lys) single nucleotide variant Bloom syndrome [RCV001904155] Chr15:90804359 [GRCh38]
Chr15:91347589 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1114C>T (p.Leu372Phe) single nucleotide variant Bloom syndrome [RCV001906039] Chr15:90760173 [GRCh38]
Chr15:91303403 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1808C>A (p.Ala603Asp) single nucleotide variant Bloom syndrome [RCV002027526] Chr15:90761181 [GRCh38]
Chr15:91304411 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.813GAA[4] (p.Lys273dup) microsatellite Bloom syndrome [RCV001905471] Chr15:90751797..90751798 [GRCh38]
Chr15:91295027..91295028 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.583A>T (p.Lys195Ter) single nucleotide variant Bloom syndrome [RCV001905472] Chr15:90749851 [GRCh38]
Chr15:91293081 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4060_4062del (p.Gly1354del) deletion Bloom syndrome [RCV002019668]|Hereditary cancer-predisposing syndrome [RCV002324467] Chr15:90811388..90811390 [GRCh38]
Chr15:91354618..91354620 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1683TGA[4] (p.Asp566del) microsatellite Bloom syndrome [RCV001933104] Chr15:90761056..90761058 [GRCh38]
Chr15:91304286..91304288 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp) single nucleotide variant Bloom syndrome [RCV002028880]|Hereditary cancer-predisposing syndrome [RCV004046122] Chr15:90811391 [GRCh38]
Chr15:91354621 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr) single nucleotide variant Bloom syndrome [RCV002011171]|Hereditary cancer-predisposing syndrome [RCV003355756] Chr15:90804291 [GRCh38]
Chr15:91347521 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3467A>T (p.Asp1156Val) single nucleotide variant Bloom syndrome [RCV001980966] Chr15:90803629 [GRCh38]
Chr15:91346859 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe) single nucleotide variant Bloom syndrome [RCV001994404]|Hereditary cancer-predisposing syndrome [RCV004603126] Chr15:90790835 [GRCh38]
Chr15:91334065 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1012T>G (p.Ser338Ala) single nucleotide variant Bloom syndrome [RCV001978203] Chr15:90754863 [GRCh38]
Chr15:91298093 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs) microsatellite Bloom syndrome [RCV001939492] Chr15:90803527..90803528 [GRCh38]
Chr15:91346757..91346758 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1550G>C (p.Ser517Thr) single nucleotide variant Bloom syndrome [RCV002019804] Chr15:90760923 [GRCh38]
Chr15:91304153 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+19C>G single nucleotide variant Bloom syndrome [RCV002013944] Chr15:90769605 [GRCh38]
Chr15:91312835 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.598A>T (p.Thr200Ser) single nucleotide variant Bloom syndrome [RCV001959564]|Hereditary cancer-predisposing syndrome [RCV004044594] Chr15:90749866 [GRCh38]
Chr15:91293096 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91290623)_(91290730_?)del deletion Bloom syndrome [RCV001959001] Chr15:91290623..91290730 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3613G>C (p.Val1205Leu) single nucleotide variant Bloom syndrome [RCV001981648] Chr15:90804221 [GRCh38]
Chr15:91347451 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) single nucleotide variant Bloom syndrome [RCV001886188]|Hereditary cancer-predisposing syndrome [RCV003382681] Chr15:90754905 [GRCh38]
Chr15:91298135 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter) single nucleotide variant Bloom syndrome [RCV001916223] Chr15:90765388 [GRCh38]
Chr15:91308618 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1761C>G (p.Ile587Met) single nucleotide variant Bloom syndrome [RCV001977520] Chr15:90761134 [GRCh38]
Chr15:91304364 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1370A>G (p.His457Arg) single nucleotide variant Bloom syndrome [RCV001957452] Chr15:90760743 [GRCh38]
Chr15:91303973 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2346T>C (p.Asn782=) single nucleotide variant Bloom syndrome [RCV001951812]|Hereditary cancer-predisposing syndrome [RCV002425329] Chr15:90769171 [GRCh38]
Chr15:91312401 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2061C>G (p.Ile687Met) single nucleotide variant Bloom syndrome [RCV001883509] Chr15:90763144 [GRCh38]
Chr15:91306374 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556-18T>G single nucleotide variant Bloom syndrome [RCV002034042] Chr15:90782804 [GRCh38]
Chr15:91326034 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2260T>C (p.Ser754Pro) single nucleotide variant Bloom syndrome [RCV002011261] Chr15:90766976 [GRCh38]
Chr15:91310206 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2284del (p.Leu762fs) deletion Bloom syndrome [RCV001959199] Chr15:90767000 [GRCh38]
Chr15:91310230 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter) single nucleotide variant Bloom syndrome [RCV001959206] Chr15:90769229 [GRCh38]
Chr15:91312459 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1455T>G (p.Asn485Lys) single nucleotide variant Bloom syndrome [RCV001897862]|not provided [RCV003478890] Chr15:90760828 [GRCh38]
Chr15:91304058 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs) deletion Bloom syndrome [RCV001972743] Chr15:90809139..90809142 [GRCh38]
Chr15:91352369..91352372 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.910T>G (p.Ser304Ala) single nucleotide variant Bloom syndrome [RCV001907316]|Hereditary cancer-predisposing syndrome [RCV002370387] Chr15:90751897 [GRCh38]
Chr15:91295127 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2657A>C (p.His886Pro) single nucleotide variant Bloom syndrome [RCV002018727]|Hereditary cancer-predisposing syndrome [RCV002458920]|not provided [RCV003478915] Chr15:90782923 [GRCh38]
Chr15:91326153 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.859C>A (p.Pro287Thr) single nucleotide variant Bloom syndrome [RCV001961394] Chr15:90751846 [GRCh38]
Chr15:91295076 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2406+5A>G single nucleotide variant Bloom syndrome [RCV001907445]|Hereditary cancer-predisposing syndrome [RCV002449493] Chr15:90769236 [GRCh38]
Chr15:91312466 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2837C>A (p.Thr946Lys) single nucleotide variant Bloom syndrome [RCV002036642] Chr15:90790662 [GRCh38]
Chr15:91333892 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr) single nucleotide variant Bloom syndrome [RCV001999335]|Hereditary cancer-predisposing syndrome [RCV002361371] Chr15:90749944 [GRCh38]
Chr15:91293174 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2414A>G (p.His805Arg) single nucleotide variant Bloom syndrome [RCV002035175]|Hereditary cancer-predisposing syndrome [RCV002458648] Chr15:90769445 [GRCh38]
Chr15:91312675 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3078G>T (p.Met1026Ile) single nucleotide variant Bloom syndrome [RCV001980980] Chr15:90794225 [GRCh38]
Chr15:91337455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2193+17C>T single nucleotide variant Bloom syndrome [RCV001981457] Chr15:90765431 [GRCh38]
Chr15:91308661 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+3T>C single nucleotide variant Bloom syndrome [RCV001940847] Chr15:90809262 [GRCh38]
Chr15:91352492 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2307+2T>G single nucleotide variant Bloom syndrome [RCV002017409] Chr15:90767025 [GRCh38]
Chr15:91310255 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) single nucleotide variant Bloom syndrome [RCV001982147] Chr15:90760610 [GRCh38]
Chr15:91303840 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2276T>C (p.Ile759Thr) single nucleotide variant Bloom syndrome [RCV001938979]|Hereditary cancer-predisposing syndrome [RCV002442891] Chr15:90766992 [GRCh38]
Chr15:91310222 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1708A>G (p.Ile570Val) single nucleotide variant Bloom syndrome [RCV001959709]|Hereditary cancer-predisposing syndrome [RCV002397945] Chr15:90761081 [GRCh38]
Chr15:91304311 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2385del (p.Asp795fs) deletion Bloom syndrome [RCV001960622] Chr15:90769210 [GRCh38]
Chr15:91312440 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.301_304del (p.Arg101fs) microsatellite Bloom syndrome [RCV001885621] Chr15:90749567..90749570 [GRCh38]
Chr15:91292797..91292800 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2708C>A (p.Thr903Asn) single nucleotide variant Bloom syndrome [RCV001878043]|Hereditary cancer-predisposing syndrome [RCV004039086] Chr15:90784966 [GRCh38]
Chr15:91328196 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2653C>T (p.His885Tyr) single nucleotide variant Bloom syndrome [RCV001954528] Chr15:90782919 [GRCh38]
Chr15:91326149 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.815A>G (p.Lys272Arg) single nucleotide variant Bloom syndrome [RCV001955435]|Hereditary cancer-predisposing syndrome [RCV002423100] Chr15:90751802 [GRCh38]
Chr15:91295032 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1136T>G (p.Ile379Ser) single nucleotide variant Bloom syndrome [RCV001993471] Chr15:90760195 [GRCh38]
Chr15:91303425 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2326C>T (p.Leu776Phe) single nucleotide variant Bloom syndrome [RCV002019170] Chr15:90769151 [GRCh38]
Chr15:91312381 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1769G>C (p.Gly590Ala) single nucleotide variant Bloom syndrome [RCV001989018] Chr15:90761142 [GRCh38]
Chr15:91304372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1802C>A (p.Ser601Tyr) single nucleotide variant Bloom syndrome [RCV001992639]|Hereditary cancer-predisposing syndrome [RCV004603098] Chr15:90761175 [GRCh38]
Chr15:91304405 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe) single nucleotide variant Bloom syndrome [RCV001919355]|Hereditary cancer-predisposing syndrome [RCV002458813] Chr15:90803671 [GRCh38]
Chr15:91346901 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2369C>T (p.Ala790Val) single nucleotide variant Bloom syndrome [RCV001955457]|Hereditary cancer-predisposing syndrome [RCV002458849] Chr15:90769194 [GRCh38]
Chr15:91312424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1849A>T (p.Ile617Leu) single nucleotide variant Bloom syndrome [RCV001867144] Chr15:90761222 [GRCh38]
Chr15:91304452 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1177C>A (p.Leu393Ile) single nucleotide variant Bloom syndrome [RCV001916709] Chr15:90760236 [GRCh38]
Chr15:91303466 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4237T>C (p.Ser1413Pro) single nucleotide variant Bloom syndrome [RCV001989179]|Hereditary cancer-predisposing syndrome [RCV002331582] Chr15:90815262 [GRCh38]
Chr15:91358492 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.982T>G (p.Ser328Ala) single nucleotide variant Bloom syndrome [RCV001916923]|Hereditary cancer-predisposing syndrome [RCV003303404] Chr15:90754833 [GRCh38]
Chr15:91298063 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3050A>G (p.Glu1017Gly) single nucleotide variant Bloom syndrome [RCV001973179]|Hereditary cancer-predisposing syndrome [RCV002442965] Chr15:90794197 [GRCh38]
Chr15:91337427 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.984del (p.Asp329fs) deletion Bloom syndrome [RCV001992754]|Hereditary cancer-predisposing syndrome [RCV002386794] Chr15:90754835 [GRCh38]
Chr15:91298065 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn) single nucleotide variant Bloom syndrome [RCV001974902]|Hereditary cancer-predisposing syndrome [RCV004043062] Chr15:90785026 [GRCh38]
Chr15:91328256 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs) deletion Bloom syndrome [RCV001994791] Chr15:90809239..90809242 [GRCh38]
Chr15:91352469..91352472 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.10G>T (p.Val4Phe) single nucleotide variant Bloom syndrome [RCV001930447]|Hereditary cancer-predisposing syndrome [RCV004946869] Chr15:90747402 [GRCh38]
Chr15:91290632 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2512C>A (p.Gln838Lys) single nucleotide variant Bloom syndrome [RCV001932390] Chr15:90769543 [GRCh38]
Chr15:91312773 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1966A>G (p.Met656Val) single nucleotide variant Bloom syndrome [RCV001936077] Chr15:90763049 [GRCh38]
Chr15:91306279 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3281C>T (p.Ser1094Leu) single nucleotide variant Bloom syndrome [RCV002028359] Chr15:90798260 [GRCh38]
Chr15:91341490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3752-13T>G single nucleotide variant Bloom syndrome [RCV001992071] Chr15:90809124 [GRCh38]
Chr15:91352354 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2719A>G (p.Thr907Ala) single nucleotide variant Bloom syndrome [RCV001994895] Chr15:90784977 [GRCh38]
Chr15:91328207 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1411A>G (p.Thr471Ala) single nucleotide variant Bloom syndrome [RCV002013482] Chr15:90760784 [GRCh38]
Chr15:91304014 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2446A>G (p.Met816Val) single nucleotide variant Bloom syndrome [RCV001996338]|Hereditary cancer-predisposing syndrome [RCV002443024] Chr15:90769477 [GRCh38]
Chr15:91312707 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1958A>T (p.Lys653Met) single nucleotide variant Bloom syndrome [RCV001933634] Chr15:90763041 [GRCh38]
Chr15:91306271 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1678G>A (p.Asp560Asn) single nucleotide variant Bloom syndrome [RCV001935318]|Hereditary cancer-predisposing syndrome [RCV004603067] Chr15:90761051 [GRCh38]
Chr15:91304281 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+14T>G single nucleotide variant Bloom syndrome [RCV001979272] Chr15:90794371 [GRCh38]
Chr15:91337601 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3011T>A (p.Leu1004His) single nucleotide variant Bloom syndrome [RCV001916319] Chr15:90790836 [GRCh38]
Chr15:91334066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3774G>C (p.Glu1258Asp) single nucleotide variant Bloom syndrome [RCV002050252] Chr15:90809159 [GRCh38]
Chr15:91352389 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.789dup (p.Asp264fs) duplication Bloom syndrome [RCV001993144] Chr15:90750055..90750056 [GRCh38]
Chr15:91293285..91293286 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1675_1676delinsTT (p.Asp559Phe) indel Bloom syndrome [RCV001958506] Chr15:90761048..90761049 [GRCh38]
Chr15:91304278..91304279 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.685G>A (p.Glu229Lys) single nucleotide variant Bloom syndrome [RCV001916342] Chr15:90749953 [GRCh38]
Chr15:91293183 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu) single nucleotide variant Bloom syndrome [RCV001955282]|Hereditary cancer-predisposing syndrome [RCV002331484] Chr15:90815167 [GRCh38]
Chr15:91358397 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3092A>G (p.Glu1031Gly) single nucleotide variant Bloom syndrome [RCV002031296] Chr15:90794239 [GRCh38]
Chr15:91337469 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3857C>G (p.Ser1286Cys) single nucleotide variant Bloom syndrome [RCV001902342] Chr15:90809242 [GRCh38]
Chr15:91352472 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2456A>G (p.Gln819Arg) single nucleotide variant Bloom syndrome [RCV001990534]|Hereditary cancer-predisposing syndrome [RCV004946950] Chr15:90769487 [GRCh38]
Chr15:91312717 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3019+13C>T single nucleotide variant Bloom syndrome [RCV002088245] Chr15:90790857 [GRCh38]
Chr15:91334087 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2289A>C (p.Leu763=) single nucleotide variant Bloom syndrome [RCV002191986] Chr15:90767005 [GRCh38]
Chr15:91310235 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4134A>T (p.Gly1378=) single nucleotide variant Bloom syndrome [RCV002170544]|Hereditary cancer-predisposing syndrome [RCV004947088] Chr15:90815159 [GRCh38]
Chr15:91358389 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+11T>C single nucleotide variant Bloom syndrome [RCV002192749] Chr15:90754949 [GRCh38]
Chr15:91298179 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.48C>T (p.His16=) single nucleotide variant Bloom syndrome [RCV002192751]|Hereditary cancer-predisposing syndrome [RCV002337213] Chr15:90747440 [GRCh38]
Chr15:91290670 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2724A>G (p.Leu908=) single nucleotide variant Bloom syndrome [RCV002165127] Chr15:90784982 [GRCh38]
Chr15:91328212 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1092A>G (p.Arg364=) single nucleotide variant Bloom syndrome [RCV002209361] Chr15:90760151 [GRCh38]
Chr15:91303381 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-14T>C single nucleotide variant Bloom syndrome [RCV002207090] Chr15:90760133 [GRCh38]
Chr15:91303363 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-11A>C single nucleotide variant Bloom syndrome [RCV002207119] Chr15:90794156 [GRCh38]
Chr15:91337386 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.192T>C (p.Asp64=) single nucleotide variant Bloom syndrome [RCV002092287] Chr15:90749460 [GRCh38]
Chr15:91292690 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2663-15T>C single nucleotide variant Bloom syndrome [RCV002091042] Chr15:90784906 [GRCh38]
Chr15:91328136 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1560C>T (p.Phe520=) single nucleotide variant Bloom syndrome [RCV002126875] Chr15:90760933 [GRCh38]
Chr15:91304163 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.726C>A (p.Pro242=) single nucleotide variant Bloom syndrome [RCV002128454]|Hereditary cancer-predisposing syndrome [RCV003161616] Chr15:90749994 [GRCh38]
Chr15:91293224 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+17C>A single nucleotide variant Bloom syndrome [RCV002107411] Chr15:90811423 [GRCh38]
Chr15:91354653 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1641C>T (p.Thr547=) single nucleotide variant Bloom syndrome [RCV002074771] Chr15:90761014 [GRCh38]
Chr15:91304244 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-20T>C single nucleotide variant Bloom syndrome [RCV002210858] Chr15:90766890 [GRCh38]
Chr15:91310120 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2253C>G (p.Leu751=) single nucleotide variant Bloom syndrome [RCV002086264] Chr15:90766969 [GRCh38]
Chr15:91310199 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2127C>T (p.Val709=) single nucleotide variant Bloom syndrome [RCV002086845] Chr15:90765348 [GRCh38]
Chr15:91308578 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-14G>A single nucleotide variant Bloom syndrome [RCV002209951] Chr15:90762952 [GRCh38]
Chr15:91306182 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+19A>G single nucleotide variant Bloom syndrome [RCV002107589] Chr15:90765433 [GRCh38]
Chr15:91308663 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2663-5G>C single nucleotide variant Bloom syndrome [RCV002110894]|Hereditary cancer-predisposing syndrome [RCV003308000] Chr15:90784916 [GRCh38]
Chr15:91328146 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3559-6A>C single nucleotide variant Bloom syndrome [RCV002074596] Chr15:90804161 [GRCh38]
Chr15:91347391 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959+17A>G single nucleotide variant Bloom syndrome [RCV002076138] Chr15:90751963 [GRCh38]
Chr15:91295193 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+21_2823+24del deletion Bloom syndrome [RCV002108026] Chr15:90785099..90785102 [GRCh38]
Chr15:91328329..91328332 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2662+1G>T single nucleotide variant not provided [RCV002224692] Chr15:90782929 [GRCh38]
Chr15:91326159 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2407-16T>G single nucleotide variant Bloom syndrome [RCV002089936] Chr15:90769422 [GRCh38]
Chr15:91312652 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2415T>C (p.His805=) single nucleotide variant Bloom syndrome [RCV002209829]|Hereditary cancer-predisposing syndrome [RCV004947104] Chr15:90769446 [GRCh38]
Chr15:91312676 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4068G>A (p.Lys1356=) single nucleotide variant Bloom syndrome [RCV002167830]|Hereditary cancer-predisposing syndrome [RCV002324529] Chr15:90811398 [GRCh38]
Chr15:91354628 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-14A>G single nucleotide variant Bloom syndrome [RCV002129410] Chr15:90766896 [GRCh38]
Chr15:91310126 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+15G>A single nucleotide variant Bloom syndrome [RCV002109966] Chr15:90769601 [GRCh38]
Chr15:91312831 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-20A>G single nucleotide variant Bloom syndrome [RCV002187446] Chr15:90794147 [GRCh38]
Chr15:91337377 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2088T>C (p.Ser696=) single nucleotide variant Bloom syndrome [RCV002148136] Chr15:90765309 [GRCh38]
Chr15:91308539 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3309A>C (p.Val1103=) single nucleotide variant Bloom syndrome [RCV002167423] Chr15:90798288 [GRCh38]
Chr15:91341518 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1089T>C (p.Ala363=) single nucleotide variant Bloom syndrome [RCV002166384] Chr15:90760148 [GRCh38]
Chr15:91303378 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+15A>G single nucleotide variant Bloom syndrome [RCV002112146] Chr15:90811421 [GRCh38]
Chr15:91354651 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2074+17G>C single nucleotide variant Bloom syndrome [RCV002190136] Chr15:90763174 [GRCh38]
Chr15:91306404 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1882+17T>A single nucleotide variant Bloom syndrome [RCV002170117] Chr15:90761272 [GRCh38]
Chr15:91304502 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3909C>T (p.Ser1303=) single nucleotide variant Bloom syndrome [RCV002130477]|Hereditary cancer-predisposing syndrome [RCV004046559] Chr15:90811239 [GRCh38]
Chr15:91354469 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-17A>G single nucleotide variant Bloom syndrome [RCV002090331] Chr15:90766893 [GRCh38]
Chr15:91310123 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3531C>T (p.Ala1177=) single nucleotide variant Bloom syndrome [RCV002108530] Chr15:90803693 [GRCh38]
Chr15:91346923 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3171A>G (p.Lys1057=) single nucleotide variant Bloom syndrome [RCV002186730] Chr15:90794318 [GRCh38]
Chr15:91337548 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.312A>G (p.Ser104=) single nucleotide variant Bloom syndrome [RCV002086425] Chr15:90749580 [GRCh38]
Chr15:91292810 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-7T>C single nucleotide variant Bloom syndrome [RCV002191272] Chr15:90762959 [GRCh38]
Chr15:91306189 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3990C>G (p.Thr1330=) single nucleotide variant Bloom syndrome [RCV002206252] Chr15:90811320 [GRCh38]
Chr15:91354550 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+17C>T single nucleotide variant Bloom syndrome [RCV002206104] Chr15:90760296 [GRCh38]
Chr15:91303526 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3702T>C (p.Gly1234=) single nucleotide variant Bloom syndrome [RCV002145627] Chr15:90804310 [GRCh38]
Chr15:91347540 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3561A>T (p.Val1187=) single nucleotide variant Bloom syndrome [RCV002189398] Chr15:90804169 [GRCh38]
Chr15:91347399 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2220T>C (p.Asp740=) single nucleotide variant Bloom syndrome [RCV002106751] Chr15:90766936 [GRCh38]
Chr15:91310166 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.633C>T (p.Pro211=) single nucleotide variant Bloom syndrome [RCV002106055] Chr15:90749901 [GRCh38]
Chr15:91293131 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-15A>G single nucleotide variant Bloom syndrome [RCV002188006] Chr15:90760132 [GRCh38]
Chr15:91303362 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1131G>A (p.Glu377=) single nucleotide variant Bloom syndrome [RCV002168544]|Hereditary cancer-predisposing syndrome [RCV002325648] Chr15:90760190 [GRCh38]
Chr15:91303420 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-19T>C single nucleotide variant Bloom syndrome [RCV002111257] Chr15:90803502 [GRCh38]
Chr15:91346732 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-10T>G single nucleotide variant Bloom syndrome [RCV002125174] Chr15:90803511 [GRCh38]
Chr15:91346741 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-14A>T single nucleotide variant Bloom syndrome [RCV002084797] Chr15:90809123 [GRCh38]
Chr15:91352353 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2074+9T>A single nucleotide variant Bloom syndrome [RCV002167096] Chr15:90763166 [GRCh38]
Chr15:91306396 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2662+9A>G single nucleotide variant not specified [RCV002247019] Chr15:90782937 [GRCh38]
Chr15:91326167 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2043T>C (p.Leu681=) single nucleotide variant Bloom syndrome [RCV002087304]|Hereditary cancer-predisposing syndrome [RCV004044941] Chr15:90763126 [GRCh38]
Chr15:91306356 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.666G>A (p.Glu222=) single nucleotide variant Bloom syndrome [RCV002086792] Chr15:90749934 [GRCh38]
Chr15:91293164 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1993C>T (p.Leu665=) single nucleotide variant Bloom syndrome [RCV002187142] Chr15:90763076 [GRCh38]
Chr15:91306306 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2307+13A>G single nucleotide variant Bloom syndrome [RCV002109459] Chr15:90767036 [GRCh38]
Chr15:91310266 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu) single nucleotide variant Bloom syndrome [RCV002127859]|Hereditary cancer-predisposing syndrome [RCV004046539]|not provided [RCV004591808] Chr15:90803657 [GRCh38]
Chr15:91346887 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.513A>T (p.Thr171=) single nucleotide variant Bloom syndrome [RCV002146378] Chr15:90749781 [GRCh38]
Chr15:91293011 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3558+15A>G single nucleotide variant Bloom syndrome [RCV002088267] Chr15:90803735 [GRCh38]
Chr15:91346965 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2019A>G (p.Leu673=) single nucleotide variant Bloom syndrome [RCV002146432] Chr15:90763102 [GRCh38]
Chr15:91306332 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+7G>A single nucleotide variant Bloom syndrome [RCV002145448] Chr15:90754945 [GRCh38]
Chr15:91298175 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2181G>T (p.Leu727=) single nucleotide variant Bloom syndrome [RCV002089958] Chr15:90765402 [GRCh38]
Chr15:91308632 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+17C>G single nucleotide variant Bloom syndrome [RCV002192443] Chr15:90769603 [GRCh38]
Chr15:91312833 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.96T>C (p.Phe32=) single nucleotide variant Bloom syndrome [RCV002169974]|Hereditary cancer-predisposing syndrome [RCV003375570] Chr15:90747488 [GRCh38]
Chr15:91290718 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2934C>A (p.Gly978=) single nucleotide variant Bloom syndrome [RCV002210223] Chr15:90790759 [GRCh38]
Chr15:91333989 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-7C>T single nucleotide variant Bloom syndrome [RCV002187793] Chr15:90804160 [GRCh38]
Chr15:91347390 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1626C>T (p.Asp542=) single nucleotide variant Bloom syndrome [RCV002190385] Chr15:90760999 [GRCh38]
Chr15:91304229 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3358+15T>C single nucleotide variant Bloom syndrome [RCV002191780] Chr15:90798352 [GRCh38]
Chr15:91341582 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.870A>G (p.Glu290=) single nucleotide variant Bloom syndrome [RCV002110080]|Hereditary cancer-predisposing syndrome [RCV004046477] Chr15:90751857 [GRCh38]
Chr15:91295087 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+20G>A single nucleotide variant Bloom syndrome [RCV002087232] Chr15:90769606 [GRCh38]
Chr15:91312836 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2662+13A>G single nucleotide variant Bloom syndrome [RCV002188880] Chr15:90782941 [GRCh38]
Chr15:91326171 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+14T>C single nucleotide variant Bloom syndrome [RCV002079386] Chr15:90804373 [GRCh38]
Chr15:91347603 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.960-7T>C single nucleotide variant Bloom syndrome [RCV002152190] Chr15:90754804 [GRCh38]
Chr15:91298034 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+16TG[2] microsatellite Bloom syndrome [RCV002173515] Chr15:90809275..90809276 [GRCh38]
Chr15:91352505..91352506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-3del deletion Bloom syndrome [RCV002174950] Chr15:90794161 [GRCh38]
Chr15:91337391 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.4158T>A (p.Ser1386=) single nucleotide variant Bloom syndrome [RCV002087822]|Hereditary cancer-predisposing syndrome [RCV004612131] Chr15:90815183 [GRCh38]
Chr15:91358413 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-18T>G single nucleotide variant Bloom syndrome [RCV002212925] Chr15:90765278 [GRCh38]
Chr15:91308508 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-17G>A single nucleotide variant Bloom syndrome [RCV002212152] Chr15:90762949 [GRCh38]
Chr15:91306179 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2091G>A (p.Leu697=) single nucleotide variant Bloom syndrome [RCV002095038] Chr15:90765312 [GRCh38]
Chr15:91308542 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406+12T>C single nucleotide variant Bloom syndrome [RCV002133958] Chr15:90769243 [GRCh38]
Chr15:91312473 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2308-15G>A single nucleotide variant Bloom syndrome [RCV002114493] Chr15:90769118 [GRCh38]
Chr15:91312348 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-18T>C single nucleotide variant Bloom syndrome [RCV002113737] Chr15:90809119 [GRCh38]
Chr15:91352349 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.98+11del deletion Bloom syndrome [RCV002116079] Chr15:90747498 [GRCh38]
Chr15:91290728 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.800-18_800-17delinsAA indel Bloom syndrome [RCV002194797] Chr15:90751769..90751770 [GRCh38]
Chr15:91294999..91295000 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-15C>G single nucleotide variant Bloom syndrome [RCV002213246] Chr15:90760579 [GRCh38]
Chr15:91303809 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1290C>T (p.Tyr430=) single nucleotide variant Bloom syndrome [RCV002132548]|Hereditary cancer-predisposing syndrome [RCV003161583] Chr15:90760663 [GRCh38]
Chr15:91303893 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3778T>C (p.Leu1260=) single nucleotide variant Bloom syndrome [RCV002088197] Chr15:90809163 [GRCh38]
Chr15:91352393 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.93A>G (p.Lys31=) single nucleotide variant Bloom syndrome [RCV002134586] Chr15:90747485 [GRCh38]
Chr15:91290715 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1374T>G (p.Leu458=) single nucleotide variant Bloom syndrome [RCV002210140] Chr15:90760747 [GRCh38]
Chr15:91303977 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406+11T>G single nucleotide variant Bloom syndrome [RCV002171251] Chr15:90769242 [GRCh38]
Chr15:91312472 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3210+20A>C single nucleotide variant Bloom syndrome [RCV002193730] Chr15:90794377 [GRCh38]
Chr15:91337607 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+20G>T single nucleotide variant Bloom syndrome [RCV002133351] Chr15:90769606 [GRCh38]
Chr15:91312836 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2502T>C (p.Asn834=) single nucleotide variant Bloom syndrome [RCV002196360] Chr15:90769533 [GRCh38]
Chr15:91312763 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-18A>G single nucleotide variant Bloom syndrome [RCV002079832] Chr15:90760129 [GRCh38]
Chr15:91303359 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.799+15A>G single nucleotide variant Bloom syndrome [RCV002077035] Chr15:90750082 [GRCh38]
Chr15:91293312 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4077-8C>T single nucleotide variant Bloom syndrome [RCV002212193] Chr15:90815094 [GRCh38]
Chr15:91358324 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1737T>G (p.Ser579=) single nucleotide variant Bloom syndrome [RCV002128012]|Hereditary cancer-predisposing syndrome [RCV004947150] Chr15:90761110 [GRCh38]
Chr15:91304340 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1866A>G (p.Ser622=) single nucleotide variant Bloom syndrome [RCV002185390] Chr15:90761239 [GRCh38]
Chr15:91304469 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+18C>G single nucleotide variant Bloom syndrome [RCV002169637] Chr15:90804377 [GRCh38]
Chr15:91347607 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1332C>T (p.Cys444=) single nucleotide variant Bloom syndrome [RCV002095308]|Hereditary cancer-predisposing syndrome [RCV002382341] Chr15:90760705 [GRCh38]
Chr15:91303935 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4113G>T (p.Thr1371=) single nucleotide variant Bloom syndrome [RCV002093866] Chr15:90815138 [GRCh38]
Chr15:91358368 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3875-8A>C single nucleotide variant Bloom syndrome [RCV002212505] Chr15:90811197 [GRCh38]
Chr15:91354427 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.99-15T>C single nucleotide variant Bloom syndrome [RCV002146782] Chr15:90749352 [GRCh38]
Chr15:91292582 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2529T>C (p.Thr843=) single nucleotide variant Bloom syndrome [RCV002088723]|Hereditary cancer-predisposing syndrome [RCV002427616] Chr15:90769560 [GRCh38]
Chr15:91312790 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1749C>G (p.Ala583=) single nucleotide variant Bloom syndrome [RCV002197359]|Hereditary cancer-predisposing syndrome [RCV002407363] Chr15:90761122 [GRCh38]
Chr15:91304352 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-6A>G single nucleotide variant Bloom syndrome [RCV002175129] Chr15:90804161 [GRCh38]
Chr15:91347391 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-15G>A single nucleotide variant Bloom syndrome [RCV002135294] Chr15:90803506 [GRCh38]
Chr15:91346736 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4116A>G (p.Lys1372=) single nucleotide variant Bloom syndrome [RCV002195627]|Hereditary cancer-predisposing syndrome [RCV002325697] Chr15:90815141 [GRCh38]
Chr15:91358371 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2074+20A>G single nucleotide variant Bloom syndrome [RCV002117411] Chr15:90763177 [GRCh38]
Chr15:91306407 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.903T>C (p.Val301=) single nucleotide variant Bloom syndrome [RCV002081116] Chr15:90751890 [GRCh38]
Chr15:91295120 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2217T>G (p.Gly739=) single nucleotide variant Bloom syndrome [RCV002078738] Chr15:90766933 [GRCh38]
Chr15:91310163 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3210+11_3210+13del microsatellite Bloom syndrome [RCV002195913] Chr15:90794365..90794367 [GRCh38]
Chr15:91337595..91337597 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2727G>A (p.Gln909=) single nucleotide variant Bloom syndrome [RCV002094557] Chr15:90784985 [GRCh38]
Chr15:91328215 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3939G>A (p.Glu1313=) single nucleotide variant Bloom syndrome [RCV002133056]|Hereditary cancer-predisposing syndrome [RCV004603169] Chr15:90811269 [GRCh38]
Chr15:91354499 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+20C>T single nucleotide variant Bloom syndrome [RCV002213796] Chr15:90754958 [GRCh38]
Chr15:91298188 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-5C>T single nucleotide variant Bloom syndrome [RCV002204956] Chr15:90809132 [GRCh38]
Chr15:91352362 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-13C>G single nucleotide variant Bloom syndrome [RCV002113492] Chr15:90804154 [GRCh38]
Chr15:91347384 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407-7C>T single nucleotide variant Bloom syndrome [RCV002133064] Chr15:90769431 [GRCh38]
Chr15:91312661 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1446C>T (p.Thr482=) single nucleotide variant Bloom syndrome [RCV002172972]|Hereditary cancer-predisposing syndrome [RCV002391164] Chr15:90760819 [GRCh38]
Chr15:91304049 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.528C>T (p.His176=) single nucleotide variant Bloom syndrome [RCV002095505] Chr15:90749796 [GRCh38]
Chr15:91293026 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1485T>C (p.His495=) single nucleotide variant Bloom syndrome [RCV002169141]|Hereditary cancer-predisposing syndrome [RCV004047062] Chr15:90760858 [GRCh38]
Chr15:91304088 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.675G>A (p.Lys225=) single nucleotide variant Bloom syndrome [RCV002193469] Chr15:90749943 [GRCh38]
Chr15:91293173 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+8T>C single nucleotide variant Bloom syndrome [RCV002211889] Chr15:90785089 [GRCh38]
Chr15:91328319 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-11A>G single nucleotide variant Bloom syndrome [RCV002079558] Chr15:90794156 [GRCh38]
Chr15:91337386 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-19T>A single nucleotide variant Bloom syndrome [RCV002173142] Chr15:90794148 [GRCh38]
Chr15:91337378 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2469T>C (p.Ser823=) single nucleotide variant Bloom syndrome [RCV002173164]|Hereditary cancer-predisposing syndrome [RCV003161368] Chr15:90769500 [GRCh38]
Chr15:91312730 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2622G>A (p.Val874=) single nucleotide variant Bloom syndrome [RCV002093064]|Hereditary cancer-predisposing syndrome [RCV003365689] Chr15:90782888 [GRCh38]
Chr15:91326118 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3609G>C (p.Ala1203=) single nucleotide variant Bloom syndrome [RCV002116485]|Hereditary cancer-predisposing syndrome [RCV002454518] Chr15:90804217 [GRCh38]
Chr15:91347447 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-12C>T single nucleotide variant Bloom syndrome [RCV002114142] Chr15:90790637 [GRCh38]
Chr15:91333867 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3636A>G (p.Glu1212=) single nucleotide variant Bloom syndrome [RCV002153173] Chr15:90804244 [GRCh38]
Chr15:91347474 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+13C>T single nucleotide variant Bloom syndrome [RCV002215623] Chr15:90809272 [GRCh38]
Chr15:91352502 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3875-19C>A single nucleotide variant Bloom syndrome [RCV002131205] Chr15:90811186 [GRCh38]
Chr15:91354416 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4119C>G (p.Ser1373=) single nucleotide variant Bloom syndrome [RCV002132757]|Hereditary cancer-predisposing syndrome [RCV002325664]|not provided [RCV003478942] Chr15:90815144 [GRCh38]
Chr15:91358374 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-18C>A single nucleotide variant Bloom syndrome [RCV002116750] Chr15:90790631 [GRCh38]
Chr15:91333861 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3249T>C (p.Ser1083=) single nucleotide variant Bloom syndrome [RCV002107266] Chr15:90798228 [GRCh38]
Chr15:91341458 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-12G>C single nucleotide variant Bloom syndrome [RCV002088784] Chr15:90782810 [GRCh38]
Chr15:91326040 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+19T>C single nucleotide variant Bloom syndrome [RCV002172626] Chr15:90790863 [GRCh38]
Chr15:91334093 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.315A>G (p.Lys105=) single nucleotide variant Bloom syndrome [RCV002172441] Chr15:90749583 [GRCh38]
Chr15:91292813 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1107G>A (p.Gln369=) single nucleotide variant Bloom syndrome [RCV002169879]|Hereditary cancer-predisposing syndrome [RCV002427549] Chr15:90760166 [GRCh38]
Chr15:91303396 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3358+7C>T single nucleotide variant Bloom syndrome [RCV002174524] Chr15:90798344 [GRCh38]
Chr15:91341574 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2662+20T>A single nucleotide variant Bloom syndrome [RCV002097083] Chr15:90782948 [GRCh38]
Chr15:91326178 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.27A>G (p.Leu9=) single nucleotide variant Bloom syndrome [RCV002134842]|Hereditary cancer-predisposing syndrome [RCV004603165] Chr15:90747419 [GRCh38]
Chr15:91290649 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2287C>T (p.Leu763=) single nucleotide variant Bloom syndrome [RCV002116795] Chr15:90767003 [GRCh38]
Chr15:91310233 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4248C>T (p.Phe1416=) single nucleotide variant Bloom syndrome [RCV002197042] Chr15:90815273 [GRCh38]
Chr15:91358503 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3360G>A (p.Gly1120=) single nucleotide variant Bloom syndrome [RCV002166936] Chr15:90803522 [GRCh38]
Chr15:91346752 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.558A>C (p.Ser186=) single nucleotide variant Bloom syndrome [RCV002133590]|Hereditary cancer-predisposing syndrome [RCV002346498] Chr15:90749826 [GRCh38]
Chr15:91293056 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3132C>T (p.Tyr1044=) single nucleotide variant Bloom syndrome [RCV002096423]|Hereditary cancer-predisposing syndrome [RCV003307946] Chr15:90794279 [GRCh38]
Chr15:91337509 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-11T>G single nucleotide variant Bloom syndrome [RCV002197086] Chr15:90766899 [GRCh38]
Chr15:91310129 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-13C>A single nucleotide variant Bloom syndrome [RCV002138634] Chr15:90804154 [GRCh38]
Chr15:91347384 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-18C>T single nucleotide variant Bloom syndrome [RCV002199554] Chr15:90803503 [GRCh38]
Chr15:91346733 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1419C>T (p.Thr473=) single nucleotide variant Bloom syndrome [RCV002138929]|Hereditary cancer-predisposing syndrome [RCV002391327] Chr15:90760792 [GRCh38]
Chr15:91304022 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1611T>C (p.Thr537=) single nucleotide variant Bloom syndrome [RCV002136965]|Hereditary cancer-predisposing syndrome [RCV002391263] Chr15:90760984 [GRCh38]
Chr15:91304214 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1278A>G (p.Ser426=) single nucleotide variant Bloom syndrome [RCV002199583]|Hereditary cancer-predisposing syndrome [RCV002443119] Chr15:90760651 [GRCh38]
Chr15:91303881 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3768T>C (p.Asp1256=) single nucleotide variant Bloom syndrome [RCV002101563] Chr15:90809153 [GRCh38]
Chr15:91352383 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1857C>T (p.Phe619=) single nucleotide variant Bloom syndrome [RCV002081285] Chr15:90761230 [GRCh38]
Chr15:91304460 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-12_1221-11del deletion Bloom syndrome [RCV002154298] Chr15:90760580..90760581 [GRCh38]
Chr15:91303810..91303811 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1212G>T (p.Arg404=) single nucleotide variant Bloom syndrome [RCV002177296] Chr15:90760271 [GRCh38]
Chr15:91303501 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+16A>C single nucleotide variant Bloom syndrome [RCV002100114] Chr15:90785097 [GRCh38]
Chr15:91328327 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-12T>A single nucleotide variant Bloom syndrome [RCV002102047] Chr15:90803509 [GRCh38]
Chr15:91346739 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3843A>G (p.Val1281=) single nucleotide variant Bloom syndrome [RCV002121897]|Hereditary cancer-predisposing syndrome [RCV005301119] Chr15:90809228 [GRCh38]
Chr15:91352458 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2949T>C (p.Asp983=) single nucleotide variant Bloom syndrome [RCV002100553]|Hereditary cancer-predisposing syndrome [RCV002434481] Chr15:90790774 [GRCh38]
Chr15:91334004 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-17_1088-15del microsatellite Bloom syndrome [RCV002082012] Chr15:90760126..90760128 [GRCh38]
Chr15:91303356..91303358 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-17A>G single nucleotide variant Bloom syndrome [RCV002198588] Chr15:90760130 [GRCh38]
Chr15:91303360 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3558+8A>G single nucleotide variant Bloom syndrome [RCV002179822] Chr15:90803728 [GRCh38]
Chr15:91346958 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1773G>A (p.Arg591=) single nucleotide variant Bloom syndrome [RCV002179875] Chr15:90761146 [GRCh38]
Chr15:91304376 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2188T>C (p.Leu730=) single nucleotide variant Bloom syndrome [RCV002204174] Chr15:90765409 [GRCh38]
Chr15:91308639 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406+9T>A single nucleotide variant Bloom syndrome [RCV002137941] Chr15:90769240 [GRCh38]
Chr15:91312470 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.225A>G (p.Glu75=) single nucleotide variant Bloom syndrome [RCV002083935] Chr15:90749493 [GRCh38]
Chr15:91292723 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3558+18T>A single nucleotide variant Bloom syndrome [RCV002084337] Chr15:90803738 [GRCh38]
Chr15:91346968 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-20A>G single nucleotide variant Bloom syndrome [RCV002202613] Chr15:90760127 [GRCh38]
Chr15:91303357 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3474C>T (p.Asp1158=) single nucleotide variant Bloom syndrome [RCV002179868]|Hereditary cancer-predisposing syndrome [RCV002454361] Chr15:90803636 [GRCh38]
Chr15:91346866 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+14C>T single nucleotide variant Bloom syndrome [RCV002120587] Chr15:90809273 [GRCh38]
Chr15:91352503 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1566A>G (p.Gly522=) single nucleotide variant Bloom syndrome [RCV002136554]|Hereditary cancer-predisposing syndrome [RCV002400368] Chr15:90760939 [GRCh38]
Chr15:91304169 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2074+31_2074+32insATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAGAAAGAAAATAACATTCGTAACTTTGAGGAAACAGAATAAATAGGAGATTTATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGAATTGGCAGGAA insertion Bloom syndrome [RCV002101016] Chr15:90763169..90763170 [GRCh38]
Chr15:91306399..91306400 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3906C>A (p.Ser1302=) single nucleotide variant Bloom syndrome [RCV002219829] Chr15:90811236 [GRCh38]
Chr15:91354466 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-19A>C single nucleotide variant Bloom syndrome [RCV002199150] Chr15:90762947 [GRCh38]
Chr15:91306177 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.732T>C (p.Ala244=) single nucleotide variant Bloom syndrome [RCV002120988] Chr15:90750000 [GRCh38]
Chr15:91293230 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-18C>T single nucleotide variant Bloom syndrome [RCV002103289] Chr15:90762948 [GRCh38]
Chr15:91306178 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+8C>A single nucleotide variant Bloom syndrome [RCV002137026] Chr15:90754946 [GRCh38]
Chr15:91298176 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406+16dup duplication Bloom syndrome [RCV002123026] Chr15:90769241..90769242 [GRCh38]
Chr15:91312471..91312472 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3211-14C>G single nucleotide variant Bloom syndrome [RCV002164790] Chr15:90798176 [GRCh38]
Chr15:91341406 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3211-11T>C single nucleotide variant Bloom syndrome [RCV002137124] Chr15:90798179 [GRCh38]
Chr15:91341409 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.960-17A>T single nucleotide variant Bloom syndrome [RCV002123258] Chr15:90754794 [GRCh38]
Chr15:91298024 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3875-14T>C single nucleotide variant Bloom syndrome [RCV002142729] Chr15:90811191 [GRCh38]
Chr15:91354421 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-4A>G single nucleotide variant Bloom syndrome [RCV002083426] Chr15:90804163 [GRCh38]
Chr15:91347393 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2226T>C (p.Thr742=) single nucleotide variant Bloom syndrome [RCV002081414] Chr15:90766942 [GRCh38]
Chr15:91310172 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+8A>G single nucleotide variant Bloom syndrome [RCV002143057] Chr15:90765422 [GRCh38]
Chr15:91308652 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2074+18T>C single nucleotide variant Bloom syndrome [RCV002184727] Chr15:90763175 [GRCh38]
Chr15:91306405 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+12G>A single nucleotide variant Bloom syndrome [RCV002184761] Chr15:90809271 [GRCh38]
Chr15:91352501 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-13C>T single nucleotide variant Bloom syndrome [RCV002083607] Chr15:90766897 [GRCh38]
Chr15:91310127 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3120G>A (p.Gln1040=) single nucleotide variant Bloom syndrome [RCV002218743]|Hereditary cancer-predisposing syndrome [RCV002324552] Chr15:90794267 [GRCh38]
Chr15:91337497 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3501G>T (p.Ala1167=) single nucleotide variant Bloom syndrome [RCV002218833]|Hereditary cancer-predisposing syndrome [RCV002337239]|not provided [RCV002479883] Chr15:90803663 [GRCh38]
Chr15:91346893 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.98+15T>C single nucleotide variant Bloom syndrome [RCV002083700] Chr15:90747505 [GRCh38]
Chr15:91290735 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3510T>C (p.Tyr1170=) single nucleotide variant Bloom syndrome [RCV002216914]|Hereditary cancer-predisposing syndrome [RCV003161418] Chr15:90803672 [GRCh38]
Chr15:91346902 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2662+15G>A single nucleotide variant Bloom syndrome [RCV002100367] Chr15:90782943 [GRCh38]
Chr15:91326173 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.609A>G (p.Thr203=) single nucleotide variant Bloom syndrome [RCV002204099] Chr15:90749877 [GRCh38]
Chr15:91293107 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.45T>C (p.Arg15=) single nucleotide variant Bloom syndrome [RCV002163747] Chr15:90747437 [GRCh38]
Chr15:91290667 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2583T>C (p.Asn861=) single nucleotide variant Bloom syndrome [RCV002217159] Chr15:90782849 [GRCh38]
Chr15:91326079 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.4026C>T (p.Ser1342=) single nucleotide variant Bloom syndrome [RCV002219222]|Hereditary cancer-predisposing syndrome [RCV002352818] Chr15:90811356 [GRCh38]
Chr15:91354586 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2874G>A (p.Val958=) single nucleotide variant Bloom syndrome [RCV002175977] Chr15:90790699 [GRCh38]
Chr15:91333929 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+14C>T single nucleotide variant Bloom syndrome [RCV002176056] Chr15:90760293 [GRCh38]
Chr15:91303523 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1113G>A (p.Gln371=) single nucleotide variant Bloom syndrome [RCV002120302]|Hereditary cancer-predisposing syndrome [RCV002434506] Chr15:90760172 [GRCh38]
Chr15:91303402 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4089A>G (p.Thr1363=) single nucleotide variant Bloom syndrome [RCV002164084] Chr15:90815114 [GRCh38]
Chr15:91358344 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-9C>G single nucleotide variant Bloom syndrome [RCV002202601] Chr15:90765287 [GRCh38]
Chr15:91308517 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3384A>G (p.Ser1128=) single nucleotide variant Bloom syndrome [RCV002161113]|Hereditary cancer-predisposing syndrome [RCV003161649] Chr15:90803546 [GRCh38]
Chr15:91346776 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2892A>G (p.Ala964=) single nucleotide variant Bloom syndrome [RCV002219900]|Hereditary cancer-predisposing syndrome [RCV002434462] Chr15:90790717 [GRCh38]
Chr15:91333947 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2640A>G (p.Glu880=) single nucleotide variant Bloom syndrome [RCV002144181]|Hereditary cancer-predisposing syndrome [RCV003348810] Chr15:90782906 [GRCh38]
Chr15:91326136 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2341G>A (p.Glu781Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255819] Chr15:90769166 [GRCh38]
Chr15:91312396 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4251A>G (p.Ser1417=) single nucleotide variant Bloom syndrome [RCV002119263]|Hereditary cancer-predisposing syndrome [RCV002331791] Chr15:90815276 [GRCh38]
Chr15:91358506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+15G>C single nucleotide variant Bloom syndrome [RCV002204768] Chr15:90785096 [GRCh38]
Chr15:91328326 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+18del deletion Bloom syndrome [RCV002201464] Chr15:90809277 [GRCh38]
Chr15:91352507 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.198T>C (p.Asn66=) single nucleotide variant Bloom syndrome [RCV002142262]|Hereditary cancer-predisposing syndrome [RCV002416445] Chr15:90749466 [GRCh38]
Chr15:91292696 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+16T>C single nucleotide variant Bloom syndrome [RCV002117729] Chr15:90790860 [GRCh38]
Chr15:91334090 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2337T>C (p.Thr779=) single nucleotide variant Bloom syndrome [RCV002175520]|Hereditary cancer-predisposing syndrome [RCV002454368] Chr15:90769162 [GRCh38]
Chr15:91312392 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+16A>C single nucleotide variant Bloom syndrome [RCV002200189] Chr15:90765430 [GRCh38]
Chr15:91308660 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2663-6T>C single nucleotide variant Bloom syndrome [RCV002200237] Chr15:90784915 [GRCh38]
Chr15:91328145 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.570G>A (p.Lys190=) single nucleotide variant Bloom syndrome [RCV002177660] Chr15:90749838 [GRCh38]
Chr15:91293068 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+13G>T single nucleotide variant Bloom syndrome [RCV002159542] Chr15:90804372 [GRCh38]
Chr15:91347602 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3855C>T (p.Tyr1285=) single nucleotide variant Bloom syndrome [RCV002121873] Chr15:90809240 [GRCh38]
Chr15:91352470 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3153T>C (p.Asn1051=) single nucleotide variant Bloom syndrome [RCV002123432]|Hereditary cancer-predisposing syndrome [RCV003348808] Chr15:90794300 [GRCh38]
Chr15:91337530 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2663-12G>A single nucleotide variant Bloom syndrome [RCV002219274] Chr15:90784909 [GRCh38]
Chr15:91328139 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.294A>G (p.Glu98=) single nucleotide variant Bloom syndrome [RCV002203961] Chr15:90749562 [GRCh38]
Chr15:91292792 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2647A>C (p.Arg883=) single nucleotide variant Bloom syndrome [RCV002101294] Chr15:90782913 [GRCh38]
Chr15:91326143 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.726C>T (p.Pro242=) single nucleotide variant Bloom syndrome [RCV002099428]|Hereditary cancer-predisposing syndrome [RCV002386944] Chr15:90749994 [GRCh38]
Chr15:91293224 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+16_2555+17delinsAT indel Bloom syndrome [RCV002218088] Chr15:90769602..90769603 [GRCh38]
Chr15:91312832..91312833 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3213T>C (p.Asp1071=) single nucleotide variant Bloom syndrome [RCV002158981] Chr15:90798192 [GRCh38]
Chr15:91341422 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.357A>T (p.Val119=) single nucleotide variant Bloom syndrome [RCV002180697] Chr15:90749625 [GRCh38]
Chr15:91292855 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+19G>A single nucleotide variant Bloom syndrome [RCV002139206] Chr15:90809278 [GRCh38]
Chr15:91352508 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-13A>G single nucleotide variant Bloom syndrome [RCV002137089] Chr15:90762953 [GRCh38]
Chr15:91306183 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1392T>C (p.Ser464=) single nucleotide variant Bloom syndrome [RCV002220563]|Hereditary cancer-predisposing syndrome [RCV002391194] Chr15:90760765 [GRCh38]
Chr15:91303995 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+11A>G single nucleotide variant Bloom syndrome [RCV002220519] Chr15:90804370 [GRCh38]
Chr15:91347600 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-20_800-18del deletion Bloom syndrome [RCV002161840] Chr15:90751766..90751768 [GRCh38]
Chr15:91294996..91294998 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3558+24_3558+28del microsatellite Bloom syndrome [RCV002100331] Chr15:90803738..90803742 [GRCh38]
Chr15:91346968..91346972 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.960-9dup duplication Bloom syndrome [RCV002183667] Chr15:90754794..90754795 [GRCh38]
Chr15:91298024..91298025 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407-9dup duplication Bloom syndrome [RCV002143718] Chr15:90769420..90769421 [GRCh38]
Chr15:91312650..91312651 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3477A>G (p.Leu1159=) single nucleotide variant Bloom syndrome [RCV002160122] Chr15:90803639 [GRCh38]
Chr15:91346869 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.234C>G (p.Pro78=) single nucleotide variant Bloom syndrome [RCV002160124]|Hereditary cancer-predisposing syndrome [RCV003348801] Chr15:90749502 [GRCh38]
Chr15:91292732 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-20G>A single nucleotide variant Bloom syndrome [RCV002219694] Chr15:90760574 [GRCh38]
Chr15:91303804 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3129C>T (p.Ala1043=) single nucleotide variant Bloom syndrome [RCV002162905]|Hereditary cancer-predisposing syndrome [RCV002325647] Chr15:90794276 [GRCh38]
Chr15:91337506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406+19A>G single nucleotide variant Bloom syndrome [RCV002182110] Chr15:90769250 [GRCh38]
Chr15:91312480 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3888C>A (p.Ser1296=) single nucleotide variant Bloom syndrome [RCV002144354] Chr15:90811218 [GRCh38]
Chr15:91354448 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+15G>C single nucleotide variant Bloom syndrome [RCV002202799] Chr15:90769601 [GRCh38]
Chr15:91312831 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-16T>C single nucleotide variant Bloom syndrome [RCV002218113] Chr15:90760578 [GRCh38]
Chr15:91303808 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.981C>T (p.Thr327=) single nucleotide variant Bloom syndrome [RCV002122349]|Hereditary cancer-predisposing syndrome [RCV005301113] Chr15:90754832 [GRCh38]
Chr15:91298062 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-17C>T single nucleotide variant Bloom syndrome [RCV002184562] Chr15:90803504 [GRCh38]
Chr15:91346734 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4158T>G (p.Ser1386=) single nucleotide variant Bloom syndrome [RCV002176689]|Hereditary cancer-predisposing syndrome [RCV002331666] Chr15:90815183 [GRCh38]
Chr15:91358413 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.483T>C (p.Asp161=) single nucleotide variant Bloom syndrome [RCV002157659] Chr15:90749751 [GRCh38]
Chr15:91292981 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4104T>G (p.Ser1368=) single nucleotide variant Bloom syndrome [RCV002101442]|Hereditary cancer-predisposing syndrome [RCV002325617] Chr15:90815129 [GRCh38]
Chr15:91358359 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-11T>A single nucleotide variant Bloom syndrome [RCV002220046] Chr15:90762955 [GRCh38]
Chr15:91306185 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3358+16T>G single nucleotide variant Bloom syndrome [RCV002163424] Chr15:90798353 [GRCh38]
Chr15:91341583 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.9:g.(?_89379429)_(91565479_?)dup duplication D-2-hydroxyglutaric aciduria 2 [RCV003111027]|not provided [RCV003111026] Chr15:89379429..91565479 [GRCh37]
Chr15:15q26.1		 uncertain significance|no classifications from unflagged records
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter) single nucleotide variant Bloom syndrome [RCV003118324]|Hereditary cancer-predisposing syndrome [RCV003358132] Chr15:90809224 [GRCh38]
Chr15:91352454 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91310130)_(91310263_?)del deletion Bloom syndrome [RCV003119207] Chr15:91310130..91310263 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91346741)_(91358519_?)del deletion Bloom syndrome [RCV003119208] Chr15:91346741..91358519 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.9:g.(?_91358322)_(91358509_?)dup duplication Bloom syndrome [RCV003119209] Chr15:91358322..91358509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+17del deletion Bloom syndrome [RCV003121054] Chr15:90769603 [GRCh38]
Chr15:91312833 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+47T>C single nucleotide variant not specified [RCV002247094] Chr15:90754985 [GRCh38]
Chr15:91298215 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3163dup (p.Cys1055fs) duplication Bloom syndrome [RCV002249298] Chr15:90794305..90794306 [GRCh38]
Chr15:91337535..91337536 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.390A>G (p.Lys130=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258459] Chr15:90749658 [GRCh38]
Chr15:91292888 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4210C>G (p.Pro1404Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278195] Chr15:90815235 [GRCh38]
Chr15:91358465 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.494C>T (p.Thr165Ile) single nucleotide variant Bloom syndrome [RCV005102794]|Hereditary cancer-predisposing syndrome [RCV003278196] Chr15:90749762 [GRCh38]
Chr15:91292992 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.383T>C (p.Val128Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278202] Chr15:90749651 [GRCh38]
Chr15:91292881 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2391A>C (p.Ala797=) single nucleotide variant Bloom syndrome [RCV003505329]|Hereditary cancer-predisposing syndrome [RCV003278204] Chr15:90769216 [GRCh38]
Chr15:91312446 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1437C>T (p.Phe479=) single nucleotide variant Bloom syndrome [RCV003777235]|Hereditary cancer-predisposing syndrome [RCV003278217] Chr15:90760810 [GRCh38]
Chr15:91304040 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1100G>T (p.Ser367Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278218] Chr15:90760159 [GRCh38]
Chr15:91303389 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3020-375G>A single nucleotide variant not provided [RCV002265085] Chr15:90793792 [GRCh38]
Chr15:91337022 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2838A>C (p.Thr946=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435195] Chr15:90790663 [GRCh38]
Chr15:91333893 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3717T>C (p.Asn1239=) single nucleotide variant Bloom syndrome [RCV003094325]|Hereditary cancer-predisposing syndrome [RCV002349050] Chr15:90804325 [GRCh38]
Chr15:91347555 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2860G>A (p.Asp954Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435487] Chr15:90790685 [GRCh38]
Chr15:91333915 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3885T>C (p.Ser1295=) single nucleotide variant Bloom syndrome [RCV003094425]|Hereditary cancer-predisposing syndrome [RCV002366324] Chr15:90811215 [GRCh38]
Chr15:91354445 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2850A>G (p.Gly950=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435355] Chr15:90790675 [GRCh38]
Chr15:91333905 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2849G>A (p.Gly950Glu) single nucleotide variant Bloom syndrome [RCV003614190]|Hereditary cancer-predisposing syndrome [RCV002435332] Chr15:90790674 [GRCh38]
Chr15:91333904 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3618A>G (p.Ala1206=) single nucleotide variant Bloom syndrome [RCV003099620]|Hereditary cancer-predisposing syndrome [RCV002452265] Chr15:90804226 [GRCh38]
Chr15:91347456 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.380C>A (p.Thr127Asn) single nucleotide variant not specified [RCV002266424] Chr15:90749648 [GRCh38]
Chr15:91292878 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3659G>A (p.Gly1220Glu) single nucleotide variant Bloom syndrome [RCV003094280]|Hereditary cancer-predisposing syndrome [RCV002452522]|not specified [RCV004782922] Chr15:90804267 [GRCh38]
Chr15:91347497 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3377T>G (p.Ile1126Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451786] Chr15:90803539 [GRCh38]
Chr15:91346769 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.3(BLM):c.4080dupG duplication not specified [RCV002266407] Chr15:90815100..90815101 [GRCh38]
Chr15:91358330..91358331 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp) single nucleotide variant Bloom syndrome [RCV003094313]|Hereditary cancer-predisposing syndrome [RCV002348933] Chr15:90804309 [GRCh38]
Chr15:91347539 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.953G>A (p.Cys318Tyr) single nucleotide variant Bloom syndrome [RCV003505246]|Hereditary cancer-predisposing syndrome [RCV002385159] Chr15:90751940 [GRCh38]
Chr15:91295170 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3005_3019del (p.Lys1002_Met1006del) deletion not specified [RCV003236456] Chr15:90790827..90790841 [GRCh38]
Chr15:91334057..91334071 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer) deletion Bloom syndrome [RCV002288304]|Hereditary cancer-predisposing syndrome [RCV002352971] Chr15:90811221 [GRCh38]
Chr15:91354451 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer) indel Bloom syndrome [RCV003230986] Chr15:90766924..90766928 [GRCh38]
Chr15:91310154..91310158 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.752A>G (p.Asp251Gly) single nucleotide variant Bloom syndrome [RCV001338206] Chr15:90750020 [GRCh38]
Chr15:91293250 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu) single nucleotide variant Bloom syndrome [RCV001326137]|Hereditary cancer-predisposing syndrome [RCV002322255] Chr15:90815104 [GRCh38]
Chr15:91358334 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.913C>T (p.Pro305Ser) single nucleotide variant Bloom syndrome [RCV001295566]|Hereditary cancer-predisposing syndrome [RCV002375341]|not provided [RCV001796428] Chr15:90751900 [GRCh38]
Chr15:91295130 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2078G>A (p.Gly693Asp) single nucleotide variant Bloom syndrome [RCV001313171]|Hereditary cancer-predisposing syndrome [RCV002418946] Chr15:90765299 [GRCh38]
Chr15:91308529 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2892A>C (p.Ala964=) single nucleotide variant Bloom syndrome [RCV001397021]|Hereditary cancer-predisposing syndrome [RCV002438906] Chr15:90790717 [GRCh38]
Chr15:91333947 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3856T>C (p.Ser1286Pro) single nucleotide variant Bloom syndrome [RCV001309309] Chr15:90809241 [GRCh38]
Chr15:91352471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3519C>T (p.Leu1173=) single nucleotide variant Bloom syndrome [RCV001494741]|Hereditary cancer-predisposing syndrome [RCV002258290] Chr15:90803681 [GRCh38]
Chr15:91346911 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4152T>A (p.His1384Gln) single nucleotide variant Bloom syndrome [RCV001351600] Chr15:90815177 [GRCh38]
Chr15:91358407 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 copy number loss not provided [RCV001795547] Chr15:88465861..94411846 [GRCh37]
Chr15:15q25.3-26.2		 pathogenic
NC_000015.9:g.(?_91326032)_(91326178_?)del deletion Bloom syndrome [RCV003119201] Chr15:91326032..91326178 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91290613)_(91312826_?)del deletion Bloom syndrome [RCV003119202] Chr15:91290613..91312826 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91290613)_(91354646_?)del deletion Bloom syndrome [RCV003119203] Chr15:91290613..91354646 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91305197)_(91306180_?)del deletion Bloom syndrome [RCV003119204] Chr15:91305197..91306180 [GRCh37]
Chr15:15q26.1		 likely benign
NC_000015.9:g.(?_91326042)_(91334084_?)dup duplication Bloom syndrome [RCV003119205] Chr15:91326042..91334084 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.9:g.(?_91341410)_(91358509_?)dup duplication Bloom syndrome [RCV003119206] Chr15:91341410..91358509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3889C>T (p.Pro1297Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366343] Chr15:90811219 [GRCh38]
Chr15:91354449 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3403T>A (p.Ser1135Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452110] Chr15:90803565 [GRCh38]
Chr15:91346795 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3407C>T (p.Ala1136Val) single nucleotide variant Bloom syndrome [RCV005096262]|Hereditary cancer-predisposing syndrome [RCV002452133] Chr15:90803569 [GRCh38]
Chr15:91346799 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.389A>G (p.Lys130Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366387] Chr15:90749657 [GRCh38]
Chr15:91292887 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3616G>C (p.Ala1206Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452256] Chr15:90804224 [GRCh38]
Chr15:91347454 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1346del (p.Ser449fs) deletion Bloom syndrome [RCV002266414] Chr15:90760719 [GRCh38]
Chr15:91303949 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.79C>T (p.Leu27Phe) single nucleotide variant Bloom syndrome [RCV003776468]|Hereditary cancer-predisposing syndrome [RCV002419144] Chr15:90747471 [GRCh38]
Chr15:91290701 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.714C>G (p.Ile238Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948677]|not provided [RCV002293619] Chr15:90749982 [GRCh38]
Chr15:91293212 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3633G>A (p.Arg1211=) single nucleotide variant Bloom syndrome [RCV005096338]|Hereditary cancer-predisposing syndrome [RCV002452375] Chr15:90804241 [GRCh38]
Chr15:91347471 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+5C>T single nucleotide variant Bloom syndrome [RCV005098304]|Hereditary cancer-predisposing syndrome [RCV002434995] Chr15:90785086 [GRCh38]
Chr15:91328316 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.299A>C (p.Gln100Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435575] Chr15:90749567 [GRCh38]
Chr15:91292797 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1882+216A>G single nucleotide variant not provided [RCV002281406] Chr15:90761471 [GRCh38]
Chr15:91304701 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys) single nucleotide variant Bloom syndrome [RCV003614095]|Hereditary cancer-predisposing syndrome [RCV002382509]|not provided [RCV002293607] Chr15:90760737 [GRCh38]
Chr15:91303967 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.743T>C (p.Ile248Thr) single nucleotide variant Bloom syndrome [RCV003099639]|Hereditary cancer-predisposing syndrome [RCV002385073] Chr15:90750011 [GRCh38]
Chr15:91293241 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs) deletion Bloom syndrome [RCV002287222] Chr15:90765329..90765339 [GRCh38]
Chr15:91308559..91308569 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.541A>C (p.Ser181Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349459] Chr15:90749809 [GRCh38]
Chr15:91293039 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.975T>C (p.Leu325=) single nucleotide variant Bloom syndrome [RCV003103617]|Hereditary cancer-predisposing syndrome [RCV002387125] Chr15:90754826 [GRCh38]
Chr15:91298056 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3569T>A (p.Met1190Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454974] Chr15:90804177 [GRCh38]
Chr15:91347407 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2891C>T (p.Ala964Val) single nucleotide variant Bloom syndrome [RCV003102842]|Hereditary cancer-predisposing syndrome [RCV002437938] Chr15:90790716 [GRCh38]
Chr15:91333946 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser) single nucleotide variant Bloom syndrome [RCV003102773]|Hereditary cancer-predisposing syndrome [RCV002435148] Chr15:90790658 [GRCh38]
Chr15:91333888 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala) single nucleotide variant Bloom syndrome [RCV002291105] Chr15:90790680 [GRCh38]
Chr15:91333910 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly) single nucleotide variant Bloom syndrome [RCV003102467]|Hereditary cancer-predisposing syndrome [RCV002366320] Chr15:90811213 [GRCh38]
Chr15:91354443 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3718A>G (p.Ile1240Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349054] Chr15:90804326 [GRCh38]
Chr15:91347556 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3681A>G (p.Lys1227=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452723] Chr15:90804289 [GRCh38]
Chr15:91347519 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2046T>A (p.Gly682=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420009] Chr15:90763129 [GRCh38]
Chr15:91306359 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2616A>G (p.Lys872=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437206] Chr15:90782882 [GRCh38]
Chr15:91326112 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1154del (p.Thr385fs) deletion Bloom syndrome [RCV003102447]|Hereditary cancer-predisposing syndrome [RCV002351186] Chr15:90760213 [GRCh38]
Chr15:91303443 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1337C>T (p.Thr446Ile) single nucleotide variant Bloom syndrome [RCV003094990]|Hereditary cancer-predisposing syndrome [RCV002387616] Chr15:90760710 [GRCh38]
Chr15:91303940 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.740A>G (p.His247Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384911] Chr15:90750008 [GRCh38]
Chr15:91293238 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.201T>G (p.Val67=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419572] Chr15:90749469 [GRCh38]
Chr15:91292699 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2992G>A (p.Val998Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435512] Chr15:90790817 [GRCh38]
Chr15:91334047 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.962C>T (p.Thr321Met) single nucleotide variant Bloom syndrome [RCV003094845]|Hereditary cancer-predisposing syndrome [RCV002385347] Chr15:90754813 [GRCh38]
Chr15:91298043 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2245A>G (p.Ile749Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420205] Chr15:90766961 [GRCh38]
Chr15:91310191 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1796G>C (p.Arg599Thr) single nucleotide variant Bloom syndrome [RCV002297444] Chr15:90761169 [GRCh38]
Chr15:91304399 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.258C>G (p.Val86=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437087] Chr15:90749526 [GRCh38]
Chr15:91292756 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3367A>G (p.Ser1123Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454805]|not provided [RCV004999692] Chr15:90803529 [GRCh38]
Chr15:91346759 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2878T>C (p.Phe960Leu) single nucleotide variant BLM-related disorder [RCV004747079]|Hereditary cancer-predisposing syndrome [RCV002437753] Chr15:90790703 [GRCh38]
Chr15:91333933 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2899C>T (p.Pro967Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438005] Chr15:90790724 [GRCh38]
Chr15:91333954 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.710G>T (p.Cys237Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367406] Chr15:90749978 [GRCh38]
Chr15:91293208 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2025G>T (p.Ala675=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419672] Chr15:90763108 [GRCh38]
Chr15:91306338 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.130G>A (p.Asp44Asn) single nucleotide variant Bloom syndrome [RCV003614144]|Hereditary cancer-predisposing syndrome [RCV002385414] Chr15:90749398 [GRCh38]
Chr15:91292628 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3597A>G (p.Lys1199=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455153] Chr15:90804205 [GRCh38]
Chr15:91347435 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1335T>C (p.Pro445=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387584] Chr15:90760708 [GRCh38]
Chr15:91303938 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2904A>G (p.Lys968=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438110] Chr15:90790729 [GRCh38]
Chr15:91333959 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.66T>C (p.Asn22=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367163] Chr15:90747458 [GRCh38]
Chr15:91290688 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3598A>C (p.Lys1200Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455154] Chr15:90804206 [GRCh38]
Chr15:91347436 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2736G>A (p.Gly912=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437533] Chr15:90784994 [GRCh38]
Chr15:91328224 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2737C>T (p.Leu913Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437548] Chr15:90784995 [GRCh38]
Chr15:91328225 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2570T>G (p.Phe857Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452767] Chr15:90782836 [GRCh38]
Chr15:91326066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys) single nucleotide variant Bloom syndrome [RCV003775303]|Hereditary cancer-predisposing syndrome [RCV002452796] Chr15:90782842 [GRCh38]
Chr15:91326072 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3550A>C (p.Asn1184His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454860] Chr15:90803712 [GRCh38]
Chr15:91346942 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1330T>C (p.Cys444Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387491] Chr15:90760703 [GRCh38]
Chr15:91303933 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2593T>C (p.Tyr865His) single nucleotide variant Bloom syndrome [RCV005098211]|Hereditary cancer-predisposing syndrome [RCV002452896] Chr15:90782859 [GRCh38]
Chr15:91326089 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3787A>G (p.Ile1263Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351175] Chr15:90809172 [GRCh38]
Chr15:91352402 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala) single nucleotide variant Bloom syndrome [RCV003099391]|Hereditary cancer-predisposing syndrome [RCV002454718] Chr15:90798292 [GRCh38]
Chr15:91341522 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.54C>G (p.Ala18=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351630] Chr15:90747446 [GRCh38]
Chr15:91290676 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3551A>T (p.Asn1184Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454869] Chr15:90803713 [GRCh38]
Chr15:91346943 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3552T>C (p.Asn1184=) single nucleotide variant Bloom syndrome [RCV003614107]|Hereditary cancer-predisposing syndrome [RCV002454879] Chr15:90803714 [GRCh38]
Chr15:91346944 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr) single nucleotide variant Bloom syndrome [RCV003094979]|Hereditary cancer-predisposing syndrome [RCV002387501] Chr15:90760704 [GRCh38]
Chr15:91303934 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2887C>A (p.His963Asn) single nucleotide variant Bloom syndrome [RCV003102831]|Hereditary cancer-predisposing syndrome [RCV002437859] Chr15:90790712 [GRCh38]
Chr15:91333942 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2889T>C (p.His963=) single nucleotide variant Bloom syndrome [RCV003775408]|Hereditary cancer-predisposing syndrome [RCV002437883] Chr15:90790714 [GRCh38]
Chr15:91333944 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3561A>C (p.Val1187=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454936] Chr15:90804169 [GRCh38]
Chr15:91347399 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-5A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435011] Chr15:90790644 [GRCh38]
Chr15:91333874 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3393T>G (p.Phe1131Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451942] Chr15:90803555 [GRCh38]
Chr15:91346785 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.369A>C (p.Gln123His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348867] Chr15:90749637 [GRCh38]
Chr15:91292867 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1157T>C (p.Ile386Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366258] Chr15:90760216 [GRCh38]
Chr15:91303446 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser) single nucleotide variant Bloom syndrome [RCV003614110]|Hereditary cancer-predisposing syndrome [RCV002348929] Chr15:90804308 [GRCh38]
Chr15:91347538 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1023T>C (p.Leu341=) single nucleotide variant Bloom syndrome [RCV003614141]|Hereditary cancer-predisposing syndrome [RCV002385237] Chr15:90754874 [GRCh38]
Chr15:91298104 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959G>T (p.Ser320Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385276] Chr15:90751946 [GRCh38]
Chr15:91295176 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.254G>A (p.Arg85Lys) single nucleotide variant Bloom syndrome [RCV003614180]|Hereditary cancer-predisposing syndrome [RCV002434950] Chr15:90749522 [GRCh38]
Chr15:91292752 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3404C>T (p.Ser1135Phe) single nucleotide variant Bloom syndrome [RCV005058303]|Hereditary cancer-predisposing syndrome [RCV002452116] Chr15:90803566 [GRCh38]
Chr15:91346796 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3894G>A (p.Gly1298=) single nucleotide variant Bloom syndrome [RCV003614114]|Hereditary cancer-predisposing syndrome [RCV002366359] Chr15:90811224 [GRCh38]
Chr15:91354454 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.799+5C>A single nucleotide variant Bloom syndrome [RCV003103464]|Hereditary cancer-predisposing syndrome [RCV002419091] Chr15:90750072 [GRCh38]
Chr15:91293302 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2025G>C (p.Ala675=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419671] Chr15:90763108 [GRCh38]
Chr15:91306338 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2736G>C (p.Gly912=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437536] Chr15:90784994 [GRCh38]
Chr15:91328224 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3735T>A (p.Thr1245=) single nucleotide variant Bloom syndrome [RCV003505215]|Hereditary cancer-predisposing syndrome [RCV002349201] Chr15:90804343 [GRCh38]
Chr15:91347573 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3295A>G (p.Asn1099Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454641] Chr15:90798274 [GRCh38]
Chr15:91341504 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.550C>G (p.Gln184Glu) single nucleotide variant Bloom syndrome [RCV003102739]|Hereditary cancer-predisposing syndrome [RCV002351710] Chr15:90749818 [GRCh38]
Chr15:91293048 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.987C>T (p.Asp329=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387378] Chr15:90754838 [GRCh38]
Chr15:91298068 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2039T>C (p.Leu680Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419890]|not provided [RCV003108099] Chr15:90763122 [GRCh38]
Chr15:91306352 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.131A>T (p.Asp44Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385644] Chr15:90749399 [GRCh38]
Chr15:91292629 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1011A>G (p.Thr337=) single nucleotide variant Bloom syndrome [RCV005096230]|Hereditary cancer-predisposing syndrome [RCV002454672] Chr15:90754862 [GRCh38]
Chr15:91298092 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.630A>G (p.Pro210=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368823] Chr15:90749898 [GRCh38]
Chr15:91293128 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.973C>A (p.Leu325Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387070] Chr15:90754824 [GRCh38]
Chr15:91298054 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3006A>G (p.Lys1002=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435712] Chr15:90790831 [GRCh38]
Chr15:91334061 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.569A>C (p.Lys190Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300839] Chr15:90749837 [GRCh38]
Chr15:91293067 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3253G>A (p.Val1085Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300854] Chr15:90798232 [GRCh38]
Chr15:91341462 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2605A>G (p.Lys869Glu) single nucleotide variant Bloom syndrome [RCV003505320]|Hereditary cancer-predisposing syndrome [RCV003300856] Chr15:90782871 [GRCh38]
Chr15:91326101 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2991T>A (p.Asp997Glu) single nucleotide variant not specified [RCV003151475] Chr15:90790816 [GRCh38]
Chr15:91334046 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1699T>C (p.Trp567Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414682] Chr15:90761072 [GRCh38]
Chr15:91304302 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1884C>T (p.Asp628=) single nucleotide variant Bloom syndrome [RCV005097811]|Hereditary cancer-predisposing syndrome [RCV002415363] Chr15:90762967 [GRCh38]
Chr15:91306197 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1935A>G (p.Gln645=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410976] Chr15:90763018 [GRCh38]
Chr15:91306248 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4153A>T (p.Thr1385Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333258] Chr15:90815178 [GRCh38]
Chr15:91358408 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.436G>T (p.Asp146Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333498] Chr15:90749704 [GRCh38]
Chr15:91292934 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2001T>G (p.Asn667Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417197] Chr15:90763084 [GRCh38]
Chr15:91306314 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1021C>A (p.Leu341Ile) single nucleotide variant Bloom syndrome [RCV002303745] Chr15:90754872 [GRCh38]
Chr15:91298102 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2190G>A (p.Leu730=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417968] Chr15:90765411 [GRCh38]
Chr15:91308641 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.857T>C (p.Val286Ala) single nucleotide variant Bloom syndrome [RCV003099978]|Hereditary cancer-predisposing syndrome [RCV002414495] Chr15:90751844 [GRCh38]
Chr15:91295074 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3506C>T (p.Ala1169Val) single nucleotide variant Bloom syndrome [RCV005096297]|Hereditary cancer-predisposing syndrome [RCV002459178] Chr15:90803668 [GRCh38]
Chr15:91346898 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2124G>A (p.Gly708=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417674] Chr15:90765345 [GRCh38]
Chr15:91308575 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3606A>G (p.Lys1202=) single nucleotide variant Bloom syndrome [RCV003775679]|Hereditary cancer-predisposing syndrome [RCV002455263] Chr15:90804214 [GRCh38]
Chr15:91347444 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.212T>G (p.Phe71Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417758] Chr15:90749480 [GRCh38]
Chr15:91292710 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1078G>A (p.Asp360Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422251] Chr15:90754929 [GRCh38]
Chr15:91298159 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.651A>G (p.Gln217=) single nucleotide variant Bloom syndrome [RCV003776275]|Hereditary cancer-predisposing syndrome [RCV002364203] Chr15:90749919 [GRCh38]
Chr15:91293149 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr) single nucleotide variant Bloom syndrome [RCV002304022]|Hereditary cancer-predisposing syndrome [RCV002443304] Chr15:90769139 [GRCh38]
Chr15:91312369 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1581C>A (p.Ser527Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392649] Chr15:90760954 [GRCh38]
Chr15:91304184 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.942C>T (p.Ser314=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443419] Chr15:90751929 [GRCh38]
Chr15:91295159 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.586G>T (p.Ala196Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353454] Chr15:90749854 [GRCh38]
Chr15:91293084 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.123A>C (p.Thr41=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370949] Chr15:90749391 [GRCh38]
Chr15:91292621 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3967T>C (p.Ser1323Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357705]|not provided [RCV003325603] Chr15:90811297 [GRCh38]
Chr15:91354527 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2908G>C (p.Val970Leu) single nucleotide variant Bloom syndrome [RCV005098331]|Hereditary cancer-predisposing syndrome [RCV002439783] Chr15:90790733 [GRCh38]
Chr15:91333963 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.404C>G (p.Ala135Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321267] Chr15:90749672 [GRCh38]
Chr15:91292902 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4213A>G (p.Ile1405Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327977] Chr15:90815238 [GRCh38]
Chr15:91358468 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2922C>T (p.Tyr974=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439976]|not provided [RCV004999764] Chr15:90790747 [GRCh38]
Chr15:91333977 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.5C>A (p.Ala2Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357966] Chr15:90747397 [GRCh38]
Chr15:91290627 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1214A>T (p.Asn405Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358105] Chr15:90760273 [GRCh38]
Chr15:91303503 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3282A>G (p.Ser1094=) single nucleotide variant Bloom syndrome [RCV005096222]|Hereditary cancer-predisposing syndrome [RCV002325072] Chr15:90798261 [GRCh38]
Chr15:91341491 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3433C>G (p.Leu1145Val) single nucleotide variant Bloom syndrome [RCV005096272]|Hereditary cancer-predisposing syndrome [RCV002457052] Chr15:90803595 [GRCh38]
Chr15:91346825 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.924T>C (p.Ile308=) single nucleotide variant Bloom syndrome [RCV005058565]|Hereditary cancer-predisposing syndrome [RCV002371386] Chr15:90751911 [GRCh38]
Chr15:91295141 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.757C>G (p.Gln253Glu) single nucleotide variant BLM-related disorder [RCV003403804]|Hereditary cancer-predisposing syndrome [RCV002394104] Chr15:90750025 [GRCh38]
Chr15:91293255 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2221A>C (p.Lys741Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428080] Chr15:90766937 [GRCh38]
Chr15:91310167 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2223G>T (p.Lys741Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428111] Chr15:90766939 [GRCh38]
Chr15:91310169 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1777A>C (p.Ile593Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404001] Chr15:90761150 [GRCh38]
Chr15:91304380 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2498C>G (p.Ala833Gly) single nucleotide variant Bloom syndrome [RCV005098161]|Hereditary cancer-predisposing syndrome [RCV002431018] Chr15:90769529 [GRCh38]
Chr15:91312759 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1500T>C (p.Phe500=) single nucleotide variant Bloom syndrome [RCV003774356]|Hereditary cancer-predisposing syndrome [RCV002389937] Chr15:90760873 [GRCh38]
Chr15:91304103 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3163T>G (p.Cys1055Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322542] Chr15:90794310 [GRCh38]
Chr15:91337540 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3170A>G (p.Lys1057Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322630] Chr15:90794317 [GRCh38]
Chr15:91337547 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3089G>A (p.Cys1030Tyr) single nucleotide variant Bloom syndrome [RCV005058264]|Hereditary cancer-predisposing syndrome [RCV002325763] Chr15:90794236 [GRCh38]
Chr15:91337466 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.233C>A (p.Pro78His) single nucleotide variant Bloom syndrome [RCV005098086]|Hereditary cancer-predisposing syndrome [RCV002457678] Chr15:90749501 [GRCh38]
Chr15:91292731 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2105C>T (p.Pro702Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424293] Chr15:90765326 [GRCh38]
Chr15:91308556 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1049T>C (p.Met350Thr) single nucleotide variant Bloom syndrome [RCV003774413]|Hereditary cancer-predisposing syndrome [RCV002400952] Chr15:90754900 [GRCh38]
Chr15:91298130 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1883-4C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415339] Chr15:90762962 [GRCh38]
Chr15:91306192 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2456A>C (p.Gln819Pro) single nucleotide variant Bloom syndrome [RCV002304930] Chr15:90769487 [GRCh38]
Chr15:91312717 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2449C>G (p.Leu817Val) single nucleotide variant Bloom syndrome [RCV002304966] Chr15:90769480 [GRCh38]
Chr15:91312710 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1208A>C (p.Gln403Pro) single nucleotide variant Bloom syndrome [RCV002304969] Chr15:90760267 [GRCh38]
Chr15:91303497 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3859G>T (p.Glu1287Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355527] Chr15:90809244 [GRCh38]
Chr15:91352474 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1243G>C (p.Asp415His) single nucleotide variant Bloom syndrome [RCV002305061]|Hereditary cancer-predisposing syndrome [RCV004948694]|not specified [RCV005419435] Chr15:90760616 [GRCh38]
Chr15:91303846 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3507T>G (p.Ala1169=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337558] Chr15:90803669 [GRCh38]
Chr15:91346899 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4079G>T (p.Gly1360Val) single nucleotide variant Bloom syndrome [RCV005096473]|Hereditary cancer-predisposing syndrome [RCV002323090] Chr15:90815104 [GRCh38]
Chr15:91358334 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1562C>T (p.Pro521Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405442] Chr15:90760935 [GRCh38]
Chr15:91304165 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1995G>A (p.Leu665=) single nucleotide variant Bloom syndrome [RCV003100992]|Hereditary cancer-predisposing syndrome [RCV002416982] Chr15:90763078 [GRCh38]
Chr15:91306308 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3856T>G (p.Ser1286Ala) single nucleotide variant Bloom syndrome [RCV002305346] Chr15:90809241 [GRCh38]
Chr15:91352471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr) single nucleotide variant Bloom syndrome [RCV003094525]|Hereditary cancer-predisposing syndrome [RCV002323241] Chr15:90815116 [GRCh38]
Chr15:91358346 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4091G>C (p.Cys1364Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323242] Chr15:90815116 [GRCh38]
Chr15:91358346 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3332T>C (p.Met1111Thr) single nucleotide variant Bloom syndrome [RCV002301237] Chr15:90798311 [GRCh38]
Chr15:91341541 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2261C>G (p.Ser754Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443746] Chr15:90766977 [GRCh38]
Chr15:91310207 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4054T>A (p.Ser1352Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321326] Chr15:90811384 [GRCh38]
Chr15:91354614 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.980C>T (p.Thr327Ile) single nucleotide variant Bloom syndrome [RCV003505248]|Hereditary cancer-predisposing syndrome [RCV002376807] Chr15:90754831 [GRCh38]
Chr15:91298061 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.407T>G (p.Leu136Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323113] Chr15:90749675 [GRCh38]
Chr15:91292905 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1563A>C (p.Pro521=) single nucleotide variant Bloom syndrome [RCV003096940]|Hereditary cancer-predisposing syndrome [RCV002405455] Chr15:90760936 [GRCh38]
Chr15:91304166 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1292G>A (p.Arg431Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380579] Chr15:90760665 [GRCh38]
Chr15:91303895 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4212T>C (p.Pro1404=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327974] Chr15:90815237 [GRCh38]
Chr15:91358467 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu) single nucleotide variant Bloom syndrome [RCV002301894] Chr15:90794282 [GRCh38]
Chr15:91337512 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3420C>T (p.His1140=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456943] Chr15:90803582 [GRCh38]
Chr15:91346812 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3425C>T (p.Ala1142Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456980] Chr15:90803587 [GRCh38]
Chr15:91346817 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2209C>A (p.Leu737Met) single nucleotide variant Bloom syndrome [RCV003098715]|Hereditary cancer-predisposing syndrome [RCV002425827] Chr15:90766925 [GRCh38]
Chr15:91310155 [GRCh37]
Chr15:15q26.1		 pathogenic|uncertain significance
NM_000057.4(BLM):c.2990A>G (p.Asp997Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442330] Chr15:90790815 [GRCh38]
Chr15:91334045 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3069G>T (p.Leu1023Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444299] Chr15:90794216 [GRCh38]
Chr15:91337446 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2494A>T (p.Thr832Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430984] Chr15:90769525 [GRCh38]
Chr15:91312755 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2496A>G (p.Thr832=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430999] Chr15:90769527 [GRCh38]
Chr15:91312757 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1777A>G (p.Ile593Val) single nucleotide variant Bloom syndrome [RCV005097748]|Hereditary cancer-predisposing syndrome [RCV002404003] Chr15:90761150 [GRCh38]
Chr15:91304380 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2778C>G (p.Ala926=) single nucleotide variant Bloom syndrome [RCV003102201]|Hereditary cancer-predisposing syndrome [RCV002439684] Chr15:90785036 [GRCh38]
Chr15:91328266 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.123A>G (p.Thr41=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370970] Chr15:90749391 [GRCh38]
Chr15:91292621 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser) single nucleotide variant Bloom syndrome [RCV003101120]|Hereditary cancer-predisposing syndrome [RCV002425613] Chr15:90766913 [GRCh38]
Chr15:91310143 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4069G>T (p.Ala1357Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321442] Chr15:90811399 [GRCh38]
Chr15:91354629 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2692A>T (p.Arg898Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428949] Chr15:90784950 [GRCh38]
Chr15:91328180 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.408C>G (p.Leu136=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323191] Chr15:90749676 [GRCh38]
Chr15:91292906 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3279A>T (p.Ser1093=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325044] Chr15:90798258 [GRCh38]
Chr15:91341488 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1296T>A (p.Pro432=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380668] Chr15:90760669 [GRCh38]
Chr15:91303899 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2939C>T (p.Ala980Val) single nucleotide variant Bloom syndrome [RCV003102900]|Hereditary cancer-predisposing syndrome [RCV002440136] Chr15:90790764 [GRCh38]
Chr15:91333994 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.344C>G (p.Pro115Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457184] Chr15:90749612 [GRCh38]
Chr15:91292842 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1306G>A (p.Asp436Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380967] Chr15:90760679 [GRCh38]
Chr15:91303909 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3498G>A (p.Gln1166=) single nucleotide variant Bloom syndrome [RCV003102383]|Hereditary cancer-predisposing syndrome [RCV002459084] Chr15:90803660 [GRCh38]
Chr15:91346890 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg) single nucleotide variant Bloom syndrome [RCV003100779]|Hereditary cancer-predisposing syndrome [RCV002403853] Chr15:90754903 [GRCh38]
Chr15:91298133 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1494G>A (p.Lys498=) single nucleotide variant Bloom syndrome [RCV003095238]|Hereditary cancer-predisposing syndrome [RCV002389770] Chr15:90760867 [GRCh38]
Chr15:91304097 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.257T>A (p.Val86Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426059] Chr15:90749525 [GRCh38]
Chr15:91292755 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3165T>C (p.Cys1055=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322564] Chr15:90794312 [GRCh38]
Chr15:91337542 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3166A>G (p.Lys1056Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322572] Chr15:90794313 [GRCh38]
Chr15:91337543 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.895G>A (p.Asp299Asn) single nucleotide variant Bloom syndrome [RCV003614137]|Hereditary cancer-predisposing syndrome [RCV002376225] Chr15:90751882 [GRCh38]
Chr15:91295112 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3849G>T (p.Gln1283His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364105] Chr15:90809234 [GRCh38]
Chr15:91352464 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1735T>A (p.Ser579Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407450] Chr15:90761108 [GRCh38]
Chr15:91304338 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3051A>C (p.Glu1017Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444116] Chr15:90794198 [GRCh38]
Chr15:91337428 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3054T>C (p.Thr1018=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444140] Chr15:90794201 [GRCh38]
Chr15:91337431 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.84A>C (p.Ser28=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447695] Chr15:90747476 [GRCh38]
Chr15:91290706 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1478A>G (p.Asn493Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397063] Chr15:90760851 [GRCh38]
Chr15:91304081 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1668T>C (p.Phe556=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403945] Chr15:90761041 [GRCh38]
Chr15:91304271 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.445A>G (p.Ser149Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328405] Chr15:90749713 [GRCh38]
Chr15:91292943 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs) microsatellite Bloom syndrome [RCV003475377]|Hereditary cancer-predisposing syndrome [RCV002423951] Chr15:90765305..90765306 [GRCh38]
Chr15:91308535..91308536 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1513T>G (p.Trp505Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392278] Chr15:90760886 [GRCh38]
Chr15:91304116 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2243del (p.Asn748fs) deletion Hereditary cancer-predisposing syndrome [RCV002428389] Chr15:90766957 [GRCh38]
Chr15:91310187 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.825G>C (p.Leu275Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430184] Chr15:90751812 [GRCh38]
Chr15:91295042 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.834T>C (p.Ala278=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434714] Chr15:90751821 [GRCh38]
Chr15:91295051 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3514A>G (p.Met1172Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459245] Chr15:90803676 [GRCh38]
Chr15:91346906 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.753T>G (p.Asp251Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393946] Chr15:90750021 [GRCh38]
Chr15:91293251 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.754G>C (p.Ala252Pro) single nucleotide variant Bloom syndrome [RCV003099676]|Hereditary cancer-predisposing syndrome [RCV002393983] Chr15:90750022 [GRCh38]
Chr15:91293252 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.411G>A (p.Lys137=) single nucleotide variant Bloom syndrome [RCV003505223]|Hereditary cancer-predisposing syndrome [RCV002323491] Chr15:90749679 [GRCh38]
Chr15:91292909 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.610G>A (p.Val204Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360223] Chr15:90749878 [GRCh38]
Chr15:91293108 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile) single nucleotide variant Bloom syndrome [RCV003101887]|Hereditary cancer-predisposing syndrome [RCV002430994] Chr15:90769526 [GRCh38]
Chr15:91312756 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.157T>C (p.Ser53Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405784] Chr15:90749425 [GRCh38]
Chr15:91292655 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.447del (p.Ser149fs) deletion Hereditary cancer-predisposing syndrome [RCV002328541] Chr15:90749715 [GRCh38]
Chr15:91292945 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile) single nucleotide variant Bloom syndrome [RCV003098718]|Hereditary cancer-predisposing syndrome [RCV002425894] Chr15:90766929 [GRCh38]
Chr15:91310159 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3069G>A (p.Leu1023=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444298] Chr15:90794216 [GRCh38]
Chr15:91337446 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.612A>T (p.Val204=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360311] Chr15:90749880 [GRCh38]
Chr15:91293110 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2288T>C (p.Leu763Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446196] Chr15:90767004 [GRCh38]
Chr15:91310234 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1481C>A (p.Thr494Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397149] Chr15:90760854 [GRCh38]
Chr15:91304084 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.853A>G (p.Lys285Glu) single nucleotide variant Bloom syndrome [RCV003505244]|Hereditary cancer-predisposing syndrome [RCV002447812] Chr15:90751840 [GRCh38]
Chr15:91295070 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.157T>G (p.Ser53Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405788] Chr15:90749425 [GRCh38]
Chr15:91292655 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3184T>G (p.Ser1062Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322776] Chr15:90794331 [GRCh38]
Chr15:91337561 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3212A>T (p.Asp1071Val) single nucleotide variant Bloom syndrome [RCV005096199]|Hereditary cancer-predisposing syndrome [RCV002324609] Chr15:90798191 [GRCh38]
Chr15:91341421 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3116T>C (p.Ile1039Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320439] Chr15:90794263 [GRCh38]
Chr15:91337493 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.75A>C (p.Leu25Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394213] Chr15:90747467 [GRCh38]
Chr15:91290697 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.856G>A (p.Val286Ile) single nucleotide variant Bloom syndrome [RCV003099975]|Hereditary cancer-predisposing syndrome [RCV002447883] Chr15:90751843 [GRCh38]
Chr15:91295073 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.859C>G (p.Pro287Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447951] Chr15:90751846 [GRCh38]
Chr15:91295076 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.171A>T (p.Thr57=) single nucleotide variant Bloom syndrome [RCV003774474]|Hereditary cancer-predisposing syndrome [RCV002399019] Chr15:90749439 [GRCh38]
Chr15:91292669 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.354T>G (p.Val118=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339745] Chr15:90749622 [GRCh38]
Chr15:91292852 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1731C>T (p.Ser577=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407428] Chr15:90761104 [GRCh38]
Chr15:91304334 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3892G>C (p.Gly1298Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357412] Chr15:90811222 [GRCh38]
Chr15:91354452 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4022C>A (p.Ala1341Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359498] Chr15:90811352 [GRCh38]
Chr15:91354582 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3119A>G (p.Gln1040Arg) single nucleotide variant Bloom syndrome [RCV005096155]|Hereditary cancer-predisposing syndrome [RCV002320459] Chr15:90794266 [GRCh38]
Chr15:91337496 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.686A>G (p.Glu229Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362182] Chr15:90749954 [GRCh38]
Chr15:91293184 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3844T>C (p.Leu1282=) single nucleotide variant Bloom syndrome [RCV003775746]|Hereditary cancer-predisposing syndrome [RCV002364086] Chr15:90809229 [GRCh38]
Chr15:91352459 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1742C>T (p.Thr581Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407490] Chr15:90761115 [GRCh38]
Chr15:91304345 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala) single nucleotide variant Bloom syndrome [RCV003505214]|Hereditary cancer-predisposing syndrome [RCV002339842] Chr15:90804201 [GRCh38]
Chr15:91347431 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.722G>C (p.Gly241Ala) single nucleotide variant Bloom syndrome [RCV003614131]|Hereditary cancer-predisposing syndrome [RCV002371006] Chr15:90749990 [GRCh38]
Chr15:91293220 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1554T>G (p.Ser518=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403437] Chr15:90760927 [GRCh38]
Chr15:91304157 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2352T>C (p.Tyr784=) single nucleotide variant Bloom syndrome [RCV003775206]|Hereditary cancer-predisposing syndrome [RCV002448436] Chr15:90769177 [GRCh38]
Chr15:91312407 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.46C>T (p.His16Tyr) single nucleotide variant Bloom syndrome [RCV003775949]|Hereditary cancer-predisposing syndrome [RCV002335300] Chr15:90747438 [GRCh38]
Chr15:91290668 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2718C>T (p.Asp906=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431236] Chr15:90784976 [GRCh38]
Chr15:91328206 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3870G>T (p.Ser1290=) single nucleotide variant Bloom syndrome [RCV003094414]|Hereditary cancer-predisposing syndrome [RCV002355623] Chr15:90809255 [GRCh38]
Chr15:91352485 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1641C>G (p.Thr547=) single nucleotide variant Bloom syndrome [RCV003614154]|Hereditary cancer-predisposing syndrome [RCV002403556] Chr15:90761014 [GRCh38]
Chr15:91304244 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.656A>T (p.Asp219Val) single nucleotide variant Bloom syndrome [RCV003505240]|Hereditary cancer-predisposing syndrome [RCV002364435] Chr15:90749924 [GRCh38]
Chr15:91293154 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1360A>C (p.Asn454His) single nucleotide variant Bloom syndrome [RCV003095030]|Hereditary cancer-predisposing syndrome [RCV002383480] Chr15:90760733 [GRCh38]
Chr15:91303963 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3483C>G (p.Ile1161Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457384] Chr15:90803645 [GRCh38]
Chr15:91346875 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3174C>A (p.His1058Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322675] Chr15:90794321 [GRCh38]
Chr15:91337551 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1545T>G (p.Asn515Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403252] Chr15:90760918 [GRCh38]
Chr15:91304148 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2322C>T (p.Asn774=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448132] Chr15:90769147 [GRCh38]
Chr15:91312377 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1682T>A (p.Phe561Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406054] Chr15:90761055 [GRCh38]
Chr15:91304285 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.451A>C (p.Ile151Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339975] Chr15:90749719 [GRCh38]
Chr15:91292949 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser) single nucleotide variant Bloom syndrome [RCV003099483]|Hereditary cancer-predisposing syndrome [RCV002457076] Chr15:90803599 [GRCh38]
Chr15:91346829 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.39A>G (p.Leu13=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321161] Chr15:90747431 [GRCh38]
Chr15:91290661 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1765G>A (p.Glu589Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401726] Chr15:90761138 [GRCh38]
Chr15:91304368 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1441G>A (p.Ala481Thr) single nucleotide variant Bloom syndrome [RCV002296171] Chr15:90760814 [GRCh38]
Chr15:91304044 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3488C>T (p.Ala1163Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337529] Chr15:90803650 [GRCh38]
Chr15:91346880 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1345T>G (p.Ser449Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387819] Chr15:90760718 [GRCh38]
Chr15:91303948 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2061C>T (p.Ile687=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421984] Chr15:90763144 [GRCh38]
Chr15:91306374 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1352A>C (p.Lys451Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387972] Chr15:90760725 [GRCh38]
Chr15:91303955 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1506T>C (p.Ser502=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390016] Chr15:90760879 [GRCh38]
Chr15:91304109 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3215A>G (p.Tyr1072Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324632] Chr15:90798194 [GRCh38]
Chr15:91341424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3107G>A (p.Cys1036Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326040] Chr15:90794254 [GRCh38]
Chr15:91337484 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1633del (p.Arg545fs) deletion Hereditary cancer-predisposing syndrome [RCV002394894] Chr15:90761004 [GRCh38]
Chr15:91304234 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1650C>G (p.Ser550=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403653] Chr15:90761023 [GRCh38]
Chr15:91304253 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+1G>A single nucleotide variant Bloom syndrome [RCV003101966]|Hereditary cancer-predisposing syndrome [RCV002433332] Chr15:90769587 [GRCh38]
Chr15:91312817 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2555+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433333] Chr15:90769587 [GRCh38]
Chr15:91312817 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.255G>A (p.Arg85=) single nucleotide variant Bloom syndrome [RCV003101973]|Hereditary cancer-predisposing syndrome [RCV002433378] Chr15:90749523 [GRCh38]
Chr15:91292753 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.189A>G (p.Lys63=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408183] Chr15:90749457 [GRCh38]
Chr15:91292687 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.136A>G (p.Asn46Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383662] Chr15:90749404 [GRCh38]
Chr15:91292634 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2331T>G (p.Ile777Met) single nucleotide variant Bloom syndrome [RCV003098807]|Hereditary cancer-predisposing syndrome [RCV002457638] Chr15:90769156 [GRCh38]
Chr15:91312386 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr) single nucleotide variant Bloom syndrome [RCV003095290]|Hereditary cancer-predisposing syndrome [RCV002392516] Chr15:90760898 [GRCh38]
Chr15:91304128 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3189T>C (p.Cys1063=) single nucleotide variant Bloom syndrome [RCV003099275]|Hereditary cancer-predisposing syndrome [RCV002322819] Chr15:90794336 [GRCh38]
Chr15:91337566 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2349C>A (p.Leu783=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448353] Chr15:90769174 [GRCh38]
Chr15:91312404 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1339G>A (p.Gly447Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387653] Chr15:90760712 [GRCh38]
Chr15:91303942 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.872T>C (p.Phe291Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373503] Chr15:90751859 [GRCh38]
Chr15:91295089 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.599C>A (p.Thr200Lys) single nucleotide variant Bloom syndrome [RCV005096879]|Hereditary cancer-predisposing syndrome [RCV002357920] Chr15:90749867 [GRCh38]
Chr15:91293097 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.59C>T (p.Thr20Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357953] Chr15:90747451 [GRCh38]
Chr15:91290681 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4080G>A (p.Gly1360=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323125] Chr15:90815105 [GRCh38]
Chr15:91358335 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1469C>T (p.Pro490Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396884] Chr15:90760842 [GRCh38]
Chr15:91304072 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1103T>C (p.Leu368Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433393] Chr15:90760162 [GRCh38]
Chr15:91303392 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe) single nucleotide variant Bloom syndrome [RCV003103663]|Hereditary cancer-predisposing syndrome [RCV002383732] Chr15:90760745 [GRCh38]
Chr15:91303975 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2064G>A (p.Leu688=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422021] Chr15:90763147 [GRCh38]
Chr15:91306377 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1352A>G (p.Lys451Arg) single nucleotide variant Bloom syndrome [RCV005097463]|Hereditary cancer-predisposing syndrome [RCV002387973] Chr15:90760725 [GRCh38]
Chr15:91303955 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1098A>G (p.Ile366Met) single nucleotide variant Bloom syndrome [RCV003111539]|Hereditary cancer-predisposing syndrome [RCV002459880] Chr15:90760157 [GRCh38]
Chr15:91303387 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3893G>A (p.Gly1298Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357418] Chr15:90811223 [GRCh38]
Chr15:91354453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3217A>G (p.Lys1073Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445444] Chr15:90798196 [GRCh38]
Chr15:91341426 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3237C>A (p.Asp1079Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324765] Chr15:90798216 [GRCh38]
Chr15:91341446 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4187T>G (p.Leu1396Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327750] Chr15:90815212 [GRCh38]
Chr15:91358442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.925A>C (p.Ile309Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450070] Chr15:90751912 [GRCh38]
Chr15:91295142 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.874G>A (p.Asp292Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373547] Chr15:90751861 [GRCh38]
Chr15:91295091 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1653T>C (p.Tyr551=) single nucleotide variant Bloom syndrome [RCV003774442]|Hereditary cancer-predisposing syndrome [RCV002395045] Chr15:90761026 [GRCh38]
Chr15:91304256 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.506T>C (p.Phe169Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335837] Chr15:90749774 [GRCh38]
Chr15:91293004 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3276T>A (p.Ser1092Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325037] Chr15:90798255 [GRCh38]
Chr15:91341485 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4222C>T (p.Pro1408Ser) single nucleotide variant Bloom syndrome [RCV003094588]|Hereditary cancer-predisposing syndrome [RCV002328050] Chr15:90815247 [GRCh38]
Chr15:91358477 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4226T>G (p.Phe1409Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328074] Chr15:90815251 [GRCh38]
Chr15:91358481 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1909A>G (p.Arg637Gly) single nucleotide variant Bloom syndrome [RCV003100929]|Hereditary cancer-predisposing syndrome [RCV002408411] Chr15:90762992 [GRCh38]
Chr15:91306222 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro) single nucleotide variant Bloom syndrome [RCV003101939]|Hereditary cancer-predisposing syndrome [RCV002455741] Chr15:90769565 [GRCh38]
Chr15:91312795 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2790G>A (p.Val930=) single nucleotide variant Bloom syndrome [RCV003102221]|Hereditary cancer-predisposing syndrome [RCV002441418] Chr15:90785048 [GRCh38]
Chr15:91328278 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3828G>T (p.Ala1276=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355375] Chr15:90809213 [GRCh38]
Chr15:91352443 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2657A>T (p.His886Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428713] Chr15:90782923 [GRCh38]
Chr15:91326153 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.440C>A (p.Ser147Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333797] Chr15:90749708 [GRCh38]
Chr15:91292938 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2539A>G (p.Ile847Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433212] Chr15:90769570 [GRCh38]
Chr15:91312800 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr) single nucleotide variant Bloom syndrome [RCV003098828]|Hereditary cancer-predisposing syndrome [RCV002450150] Chr15:90769193 [GRCh38]
Chr15:91312423 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2754C>T (p.Tyr918=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439403] Chr15:90785012 [GRCh38]
Chr15:91328242 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile) single nucleotide variant Bloom syndrome [RCV002299713]|Hereditary cancer-predisposing syndrome [RCV004047675] Chr15:90794328 [GRCh38]
Chr15:91337558 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.915A>G (p.Pro305=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378817] Chr15:90751902 [GRCh38]
Chr15:91295132 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1473A>G (p.Leu491=) single nucleotide variant Bloom syndrome [RCV003100684]|Hereditary cancer-predisposing syndrome [RCV002396970] Chr15:90760846 [GRCh38]
Chr15:91304076 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1569T>C (p.Asn523=) single nucleotide variant Bloom syndrome [RCV005097595]|Hereditary cancer-predisposing syndrome [RCV002405609] Chr15:90760942 [GRCh38]
Chr15:91304172 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-3C>T single nucleotide variant Bloom syndrome [RCV003094346]|Hereditary cancer-predisposing syndrome [RCV002363805] Chr15:90809134 [GRCh38]
Chr15:91352364 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys) single nucleotide variant Bloom syndrome [RCV003614119]|Hereditary cancer-predisposing syndrome [RCV002328212] Chr15:90815266 [GRCh38]
Chr15:91358496 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2447T>C (p.Met816Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450480] Chr15:90769478 [GRCh38]
Chr15:91312708 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3916G>A (p.Gly1306Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373156] Chr15:90811246 [GRCh38]
Chr15:91354476 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg) single nucleotide variant Bloom syndrome [RCV003614115]|Hereditary cancer-predisposing syndrome [RCV002373226] Chr15:90811260 [GRCh38]
Chr15:91354490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2401A>G (p.Ser801Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430673] Chr15:90769226 [GRCh38]
Chr15:91312456 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.158C>T (p.Ser53Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398401] Chr15:90749426 [GRCh38]
Chr15:91292656 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.424A>C (p.Ser142Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329831] Chr15:90749692 [GRCh38]
Chr15:91292922 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1903G>A (p.Ala635Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408304] Chr15:90762986 [GRCh38]
Chr15:91306216 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1394C>T (p.Pro465Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389076] Chr15:90760767 [GRCh38]
Chr15:91303997 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.40G>C (p.Glu14Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323333] Chr15:90747432 [GRCh38]
Chr15:91290662 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4108A>G (p.Lys1370Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323383] Chr15:90815133 [GRCh38]
Chr15:91358363 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2162T>A (p.Val721Glu) single nucleotide variant Bloom syndrome [RCV005097984]|Hereditary cancer-predisposing syndrome [RCV002432614] Chr15:90765383 [GRCh38]
Chr15:91308613 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.376C>A (p.Pro126Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363859] Chr15:90749644 [GRCh38]
Chr15:91292874 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3521G>A (p.Gly1174Glu) single nucleotide variant Bloom syndrome [RCV002298142] Chr15:90803683 [GRCh38]
Chr15:91346913 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2762G>C (p.Gly921Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439519] Chr15:90785020 [GRCh38]
Chr15:91328250 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3944T>C (p.Leu1315Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373304] Chr15:90811274 [GRCh38]
Chr15:91354504 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3965C>A (p.Ser1322Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357700] Chr15:90811295 [GRCh38]
Chr15:91354525 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2256G>A (p.Gln752=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443642] Chr15:90766972 [GRCh38]
Chr15:91310202 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3330T>A (p.Thr1110=) single nucleotide variant Bloom syndrome [RCV003505210]|Hereditary cancer-predisposing syndrome [RCV002326493] Chr15:90798309 [GRCh38]
Chr15:91341539 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.617C>A (p.Thr206Asn) single nucleotide variant Bloom syndrome [RCV003098161]|Hereditary cancer-predisposing syndrome [RCV002353755] Chr15:90749885 [GRCh38]
Chr15:91293115 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.658T>C (p.Leu220=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375803] Chr15:90749926 [GRCh38]
Chr15:91293156 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.60A>C (p.Thr20=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360130] Chr15:90747452 [GRCh38]
Chr15:91290682 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2490G>T (p.Thr830=) single nucleotide variant Bloom syndrome [RCV003775269]|Hereditary cancer-predisposing syndrome [RCV002430938] Chr15:90769521 [GRCh38]
Chr15:91312751 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1025T>G (p.Leu342Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380849] Chr15:90754876 [GRCh38]
Chr15:91298106 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1302A>T (p.Ser434=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380868] Chr15:90760675 [GRCh38]
Chr15:91303905 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4172G>C (p.Gly1391Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333407] Chr15:90815197 [GRCh38]
Chr15:91358427 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2910G>T (p.Val970=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439832] Chr15:90790735 [GRCh38]
Chr15:91333965 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs) indel Bloom syndrome [RCV003475340]|Hereditary cancer-predisposing syndrome [RCV002456953] Chr15:90803583 [GRCh38]
Chr15:91346813 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2411G>A (p.Gly804Glu) single nucleotide variant Bloom syndrome [RCV005058788]|Hereditary cancer-predisposing syndrome [RCV002450341] Chr15:90769442 [GRCh38]
Chr15:91312672 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4235C>G (p.Pro1412Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328146] Chr15:90815260 [GRCh38]
Chr15:91358490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3978T>G (p.Phe1326Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375525] Chr15:90811308 [GRCh38]
Chr15:91354538 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.909T>G (p.Pro303=) single nucleotide variant Bloom syndrome [RCV003614138]|Hereditary cancer-predisposing syndrome [RCV002378617] Chr15:90751896 [GRCh38]
Chr15:91295126 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.128C>T (p.Ser43Leu) single nucleotide variant Bloom syndrome [RCV005097406]|Hereditary cancer-predisposing syndrome [RCV002383281] Chr15:90749396 [GRCh38]
Chr15:91292626 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1817A>T (p.Asp606Val) single nucleotide variant Bloom syndrome [RCV003097273]|Hereditary cancer-predisposing syndrome [RCV002410278]|not provided [RCV003476993] Chr15:90761190 [GRCh38]
Chr15:91304420 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4175C>T (p.Ala1392Val) single nucleotide variant Bloom syndrome [RCV005096501]|Hereditary cancer-predisposing syndrome [RCV002333424] Chr15:90815200 [GRCh38]
Chr15:91358430 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1705G>T (p.Asp569Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414733] Chr15:90761078 [GRCh38]
Chr15:91304308 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.511dup (p.Thr171fs) duplication Bloom syndrome [RCV003614124]|Hereditary cancer-predisposing syndrome [RCV002336054] Chr15:90749778..90749779 [GRCh38]
Chr15:91293008..91293009 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1935A>C (p.Gln645His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410974] Chr15:90763018 [GRCh38]
Chr15:91306248 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.924T>G (p.Ile308Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371387] Chr15:90751911 [GRCh38]
Chr15:91295141 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1273G>A (p.Gly425Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378865] Chr15:90760646 [GRCh38]
Chr15:91303876 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3430A>G (p.Arg1144Gly) single nucleotide variant Bloom syndrome [RCV002298287] Chr15:90803592 [GRCh38]
Chr15:91346822 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3432A>G (p.Arg1144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457039] Chr15:90803594 [GRCh38]
Chr15:91346824 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1820_1823del (p.Cys607fs) deletion Hereditary cancer-predisposing syndrome [RCV002410343] Chr15:90761191..90761194 [GRCh38]
Chr15:91304421..91304424 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.88C>G (p.Pro30Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376050] Chr15:90747480 [GRCh38]
Chr15:91290710 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4156T>C (p.Ser1386Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333278] Chr15:90815181 [GRCh38]
Chr15:91358411 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.437A>G (p.Asp146Gly) single nucleotide variant Bloom syndrome [RCV003094667]|Hereditary cancer-predisposing syndrome [RCV002333554] Chr15:90749705 [GRCh38]
Chr15:91292935 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1727C>T (p.Ala576Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414831] Chr15:90761100 [GRCh38]
Chr15:91304330 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.566G>T (p.Gly189Val) single nucleotide variant Bloom syndrome [RCV003505233]|Hereditary cancer-predisposing syndrome [RCV002347359] Chr15:90749834 [GRCh38]
Chr15:91293064 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3563A>C (p.Asp1188Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339795] Chr15:90804171 [GRCh38]
Chr15:91347401 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3586A>G (p.Ser1196Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339816] Chr15:90804194 [GRCh38]
Chr15:91347424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1606C>A (p.His536Asn) single nucleotide variant Bloom syndrome [RCV005097631]|Hereditary cancer-predisposing syndrome [RCV002400866] Chr15:90760979 [GRCh38]
Chr15:91304209 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.936T>C (p.Ser312=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371733] Chr15:90751923 [GRCh38]
Chr15:91295153 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.687A>C (p.Glu229Asp) single nucleotide variant Bloom syndrome [RCV003103342]|Hereditary cancer-predisposing syndrome [RCV002362213] Chr15:90749955 [GRCh38]
Chr15:91293185 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.934T>C (p.Ser312Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450089] Chr15:90751921 [GRCh38]
Chr15:91295151 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.116A>T (p.Lys39Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329876] Chr15:90749384 [GRCh38]
Chr15:91292614 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4253A>G (p.Ter1418=) single nucleotide variant Bloom syndrome [RCV005058359]|Hereditary cancer-predisposing syndrome [RCV002329879] Chr15:90815278 [GRCh38]
Chr15:91358508 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1828G>A (p.Val610Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410476] Chr15:90761201 [GRCh38]
Chr15:91304431 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4172G>A (p.Gly1391Glu) single nucleotide variant Bloom syndrome [RCV002302190] Chr15:90815197 [GRCh38]
Chr15:91358427 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2781del (p.Asp928fs) deletion Bloom syndrome [RCV003614187]|Hereditary cancer-predisposing syndrome [RCV002441312] Chr15:90785039 [GRCh38]
Chr15:91328269 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2380A>T (p.Ile794Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457888] Chr15:90769205 [GRCh38]
Chr15:91312435 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3106T>A (p.Cys1036Ser) single nucleotide variant Bloom syndrome [RCV002299946] Chr15:90794253 [GRCh38]
Chr15:91337483 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1763del (p.Lys588fs) deletion Bloom syndrome [RCV003614161]|Hereditary cancer-predisposing syndrome [RCV002407621] Chr15:90761135 [GRCh38]
Chr15:91304365 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly) single nucleotide variant Bloom syndrome [RCV003097229]|Hereditary cancer-predisposing syndrome [RCV002407665] Chr15:90761144 [GRCh38]
Chr15:91304374 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.210C>T (p.Asp70=) single nucleotide variant Bloom syndrome [RCV003101061]|Hereditary cancer-predisposing syndrome [RCV002424374] Chr15:90749478 [GRCh38]
Chr15:91292708 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3177A>G (p.Pro1059=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322692] Chr15:90794324 [GRCh38]
Chr15:91337554 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3097A>G (p.Ile1033Val) single nucleotide variant Bloom syndrome [RCV005096147]|Hereditary cancer-predisposing syndrome [RCV002325862] Chr15:90794244 [GRCh38]
Chr15:91337474 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1783T>C (p.Ser595Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404136] Chr15:90761156 [GRCh38]
Chr15:91304386 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2711T>C (p.Met904Thr) single nucleotide variant Bloom syndrome [RCV003505283]|Hereditary cancer-predisposing syndrome [RCV002431200] Chr15:90784969 [GRCh38]
Chr15:91328199 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4199C>T (p.Ala1400Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327815] Chr15:90815224 [GRCh38]
Chr15:91358454 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.169A>T (p.Thr57Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406282] Chr15:90749437 [GRCh38]
Chr15:91292667 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.658T>G (p.Leu220Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364534] Chr15:90749926 [GRCh38]
Chr15:91293156 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.190G>T (p.Asp64Tyr) single nucleotide variant Bloom syndrome [RCV005097830]|Hereditary cancer-predisposing syndrome [RCV002410521] Chr15:90749458 [GRCh38]
Chr15:91292688 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.538G>A (p.Val180Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347182] Chr15:90749806 [GRCh38]
Chr15:91293036 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1456C>G (p.Leu486Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394715] Chr15:90760829 [GRCh38]
Chr15:91304059 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter) single nucleotide variant Bloom syndrome [RCV003774239]|Hereditary cancer-predisposing syndrome [RCV002383303] Chr15:90760663 [GRCh38]
Chr15:91303893 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1887G>A (p.Lys629=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407950] Chr15:90762970 [GRCh38]
Chr15:91306200 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1198C>G (p.Leu400Val) single nucleotide variant Bloom syndrome [RCV003102714]|Hereditary cancer-predisposing syndrome [RCV002344400] Chr15:90760257 [GRCh38]
Chr15:91303487 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1059G>A (p.Leu353=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401657] Chr15:90754910 [GRCh38]
Chr15:91298140 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2350T>C (p.Tyr784His) single nucleotide variant Bloom syndrome [RCV003098819]|Hereditary cancer-predisposing syndrome [RCV002448406] Chr15:90769175 [GRCh38]
Chr15:91312405 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2374T>C (p.Phe792Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457812] Chr15:90769199 [GRCh38]
Chr15:91312429 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1058T>C (p.Leu353Pro) single nucleotide variant Bloom syndrome [RCV005097723]|Hereditary cancer-predisposing syndrome [RCV002401447] Chr15:90754909 [GRCh38]
Chr15:91298139 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.901G>T (p.Val301Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376434] Chr15:90751888 [GRCh38]
Chr15:91295118 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1799T>C (p.Leu600Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404268] Chr15:90761172 [GRCh38]
Chr15:91304402 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1128G>A (p.Met376Ile) single nucleotide variant Bloom syndrome [RCV003099186]|Hereditary cancer-predisposing syndrome [RCV002325806] Chr15:90760187 [GRCh38]
Chr15:91303417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3101del (p.Thr1034fs) deletion Hereditary cancer-predisposing syndrome [RCV002325990] Chr15:90794248 [GRCh38]
Chr15:91337478 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1132C>T (p.His378Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322982] Chr15:90760191 [GRCh38]
Chr15:91303421 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1587T>A (p.Ala529=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398353] Chr15:90760960 [GRCh38]
Chr15:91304190 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1067A>T (p.Glu356Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408102] Chr15:90754918 [GRCh38]
Chr15:91298148 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2815G>A (p.Gly939Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441751] Chr15:90785073 [GRCh38]
Chr15:91328303 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3205A>G (p.Thr1069Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323008] Chr15:90794352 [GRCh38]
Chr15:91337582 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1918A>G (p.Lys640Glu) single nucleotide variant Bloom syndrome [RCV002296507]|Hereditary cancer-predisposing syndrome [RCV004047668] Chr15:90763001 [GRCh38]
Chr15:91306231 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.318A>T (p.Ser106=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322829] Chr15:90749586 [GRCh38]
Chr15:91292816 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3114A>T (p.Arg1038Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326123] Chr15:90794261 [GRCh38]
Chr15:91337491 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.529T>G (p.Phe177Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344569] Chr15:90749797 [GRCh38]
Chr15:91293027 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.2(BLM):c.4080delG deletion Hereditary cancer-predisposing syndrome [RCV002323122] Chr15:90815101 [GRCh38]
Chr15:91358331 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3335A>C (p.Asn1112Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326521] Chr15:90798314 [GRCh38]
Chr15:91341544 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1375C>G (p.Pro459Ala) single nucleotide variant Bloom syndrome [RCV005058602]|Hereditary cancer-predisposing syndrome [RCV002383792] Chr15:90760748 [GRCh38]
Chr15:91303978 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1645C>A (p.Pro549Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394964] Chr15:90761018 [GRCh38]
Chr15:91304248 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu) single nucleotide variant Bloom syndrome [RCV003099392]|Hereditary cancer-predisposing syndrome [RCV002326340] Chr15:90798293 [GRCh38]
Chr15:91341523 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1922A>G (p.His641Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410737] Chr15:90763005 [GRCh38]
Chr15:91306235 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1923_1925del (p.His641_Glu642delinsGln) deletion Hereditary cancer-predisposing syndrome [RCV002410747] Chr15:90763005..90763007 [GRCh38]
Chr15:91306235..91306237 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter) single nucleotide variant Bloom syndrome [RCV003100896]|Hereditary cancer-predisposing syndrome [RCV002414987] Chr15:90761238 [GRCh38]
Chr15:91304468 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3500C>A (p.Ala1167Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459143] Chr15:90803662 [GRCh38]
Chr15:91346892 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val) single nucleotide variant Bloom syndrome [RCV003094528]|Hereditary cancer-predisposing syndrome [RCV002323283] Chr15:90815124 [GRCh38]
Chr15:91358354 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn) single nucleotide variant Bloom syndrome [RCV003099420]|Hereditary cancer-predisposing syndrome [RCV002326641] Chr15:90798325 [GRCh38]
Chr15:91341555 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.479T>C (p.Phe160Ser) single nucleotide variant Bloom syndrome [RCV003096471]|Hereditary cancer-predisposing syndrome [RCV002337858] Chr15:90749747 [GRCh38]
Chr15:91292977 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3753A>G (p.Glu1251=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363808] Chr15:90809138 [GRCh38]
Chr15:91352368 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1845A>G (p.Gln615=) single nucleotide variant Bloom syndrome [RCV003100885]|Hereditary cancer-predisposing syndrome [RCV002412912] Chr15:90761218 [GRCh38]
Chr15:91304448 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3497A>G (p.Gln1166Arg) single nucleotide variant Bloom syndrome [RCV003108014]|Hereditary cancer-predisposing syndrome [RCV002459079] Chr15:90803659 [GRCh38]
Chr15:91346889 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2978A>G (p.Tyr993Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442160] Chr15:90790803 [GRCh38]
Chr15:91334033 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2687T>C (p.Leu896Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428928] Chr15:90784945 [GRCh38]
Chr15:91328175 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.57A>G (p.Arg19=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359840] Chr15:90747449 [GRCh38]
Chr15:91290679 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2704G>A (p.Asp902Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429032] Chr15:90784962 [GRCh38]
Chr15:91328192 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2189T>C (p.Leu730Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425536] Chr15:90765410 [GRCh38]
Chr15:91308640 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4081T>C (p.Ser1361Pro) single nucleotide variant Bloom syndrome [RCV003614117]|Hereditary cancer-predisposing syndrome [RCV002323129] Chr15:90815106 [GRCh38]
Chr15:91358336 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.494C>G (p.Thr165Ser) single nucleotide variant Bloom syndrome [RCV003096539]|Hereditary cancer-predisposing syndrome [RCV002342716] Chr15:90749762 [GRCh38]
Chr15:91292992 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1925del (p.Glu642fs) deletion Hereditary cancer-predisposing syndrome [RCV002410792] Chr15:90763008 [GRCh38]
Chr15:91306238 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1835C>A (p.Ser612Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412717] Chr15:90761208 [GRCh38]
Chr15:91304438 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1836T>C (p.Ser612=) single nucleotide variant Bloom syndrome [RCV003100881]|Hereditary cancer-predisposing syndrome [RCV002412739] Chr15:90761209 [GRCh38]
Chr15:91304439 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1700G>A (p.Trp567Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414696] Chr15:90761073 [GRCh38]
Chr15:91304303 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2981_2982delinsAG (p.Thr994Lys) indel Bloom syndrome [RCV005098368]|Hereditary cancer-predisposing syndrome [RCV002442217] Chr15:90790806..90790807 [GRCh38]
Chr15:91334036..91334037 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4117T>A (p.Ser1373Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323455] Chr15:90815142 [GRCh38]
Chr15:91358372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2284C>T (p.Leu762Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446138] Chr15:90767000 [GRCh38]
Chr15:91310230 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter) single nucleotide variant Bloom syndrome [RCV003102387]|Hereditary cancer-predisposing syndrome [RCV002459215] Chr15:90803672 [GRCh38]
Chr15:91346902 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2275A>G (p.Ile759Val) single nucleotide variant Bloom syndrome [RCV003614175]|Hereditary cancer-predisposing syndrome [RCV002445993] Chr15:90766991 [GRCh38]
Chr15:91310221 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3757T>A (p.Leu1253Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363822] Chr15:90809142 [GRCh38]
Chr15:91352372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.141A>C (p.Val47=) single nucleotide variant Bloom syndrome [RCV003095126]|Hereditary cancer-predisposing syndrome [RCV002391771] Chr15:90749409 [GRCh38]
Chr15:91292639 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2695C>A (p.Arg899=) single nucleotide variant Bloom syndrome [RCV003614183]|Hereditary cancer-predisposing syndrome [RCV002428960] Chr15:90784953 [GRCh38]
Chr15:91328183 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4098G>C (p.Lys1366Asn) single nucleotide variant Bloom syndrome [RCV005096479]|Hereditary cancer-predisposing syndrome [RCV002323277] Chr15:90815123 [GRCh38]
Chr15:91358353 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.466G>T (p.Asp156Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330507] Chr15:90749734 [GRCh38]
Chr15:91292964 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1205A>G (p.Gln402Arg) single nucleotide variant Bloom syndrome [RCV003776134]|Hereditary cancer-predisposing syndrome [RCV002344895]|not provided [RCV004763383] Chr15:90760264 [GRCh38]
Chr15:91303494 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu) single nucleotide variant Bloom syndrome [RCV003096808]|Hereditary cancer-predisposing syndrome [RCV002344908] Chr15:90760264 [GRCh38]
Chr15:91303494 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3526A>G (p.Lys1176Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459358] Chr15:90803688 [GRCh38]
Chr15:91346918 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2305A>C (p.Lys769Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446373] Chr15:90767021 [GRCh38]
Chr15:91310251 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.976G>T (p.Asp326Tyr) single nucleotide variant Bloom syndrome [RCV002303297] Chr15:90754827 [GRCh38]
Chr15:91298057 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3538_3539del (p.Val1180fs) deletion Hereditary cancer-predisposing syndrome [RCV002459452] Chr15:90803699..90803700 [GRCh38]
Chr15:91346929..91346930 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.411G>T (p.Lys137Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323503] Chr15:90749679 [GRCh38]
Chr15:91292909 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2290T>C (p.Tyr764His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446232] Chr15:90767006 [GRCh38]
Chr15:91310236 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3825T>G (p.Gly1275=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364019] Chr15:90809210 [GRCh38]
Chr15:91352440 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2986C>T (p.His996Tyr) single nucleotide variant Bloom syndrome [RCV003102948]|Hereditary cancer-predisposing syndrome [RCV002442259] Chr15:90790811 [GRCh38]
Chr15:91334041 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4109A>G (p.Lys1370Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323388] Chr15:90815134 [GRCh38]
Chr15:91358364 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.610G>T (p.Val204Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360226] Chr15:90749878 [GRCh38]
Chr15:91293108 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.129A>C (p.Ser43=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380734] Chr15:90749397 [GRCh38]
Chr15:91292627 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.446G>A (p.Ser149Asn) single nucleotide variant Bloom syndrome [RCV003102588]|Hereditary cancer-predisposing syndrome [RCV002328473] Chr15:90749714 [GRCh38]
Chr15:91292944 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1849A>G (p.Ile617Val) single nucleotide variant Bloom syndrome [RCV003097297]|Hereditary cancer-predisposing syndrome [RCV002412975] Chr15:90761222 [GRCh38]
Chr15:91304452 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr) single nucleotide variant Bloom syndrome [RCV003097181]|Hereditary cancer-predisposing syndrome [RCV002399129] Chr15:90761099 [GRCh38]
Chr15:91304329 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.153T>C (p.Asn51=) single nucleotide variant Bloom syndrome [RCV003095309]|Hereditary cancer-predisposing syndrome [RCV002403153] Chr15:90749421 [GRCh38]
Chr15:91292651 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.761A>G (p.Glu254Gly) single nucleotide variant Bloom syndrome [RCV005097138]|Hereditary cancer-predisposing syndrome [RCV002396250] Chr15:90750029 [GRCh38]
Chr15:91293259 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2217T>C (p.Gly739=) single nucleotide variant Bloom syndrome [RCV003101134]|Hereditary cancer-predisposing syndrome [RCV002425945] Chr15:90766933 [GRCh38]
Chr15:91310163 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1510A>C (p.Asn504His) single nucleotide variant Bloom syndrome [RCV003614150]|Hereditary cancer-predisposing syndrome [RCV002392198] Chr15:90760883 [GRCh38]
Chr15:91304113 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2297C>G (p.Thr766Ser) single nucleotide variant Bloom syndrome [RCV005058770]|Hereditary cancer-predisposing syndrome [RCV002446267] Chr15:90767013 [GRCh38]
Chr15:91310243 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla) insertion Bloom syndrome [RCV003096971]|Hereditary cancer-predisposing syndrome [RCV002405828] Chr15:90760955..90760956 [GRCh38]
Chr15:91304185..91304186 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1852A>C (p.Asn618His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413033] Chr15:90761225 [GRCh38]
Chr15:91304455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2478G>C (p.Val826=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455588] Chr15:90769509 [GRCh38]
Chr15:91312739 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.242C>A (p.Thr81Lys) single nucleotide variant Bloom syndrome [RCV002299443] Chr15:90749510 [GRCh38]
Chr15:91292740 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3884G>C (p.Ser1295Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357366] Chr15:90811214 [GRCh38]
Chr15:91354444 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3154C>T (p.Pro1052Ser) single nucleotide variant Bloom syndrome [RCV003775057]|Hereditary cancer-predisposing syndrome [RCV002320853] Chr15:90794301 [GRCh38]
Chr15:91337531 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe) single nucleotide variant Bloom syndrome [RCV003102018]|Hereditary cancer-predisposing syndrome [RCV002426257] Chr15:90782867 [GRCh38]
Chr15:91326097 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2271C>A (p.Asp757Glu) single nucleotide variant Bloom syndrome [RCV002296041] Chr15:90766987 [GRCh38]
Chr15:91310217 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1549A>C (p.Ser517Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403312] Chr15:90760922 [GRCh38]
Chr15:91304152 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.2:c.2403_2406delTCAG deletion Hereditary cancer-predisposing syndrome [RCV002459668]   pathogenic
NM_000057.4(BLM):c.467A>T (p.Asp156Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335193] Chr15:90749735 [GRCh38]
Chr15:91292965 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1672A>G (p.Ile558Val) single nucleotide variant Bloom syndrome [RCV003097094]|Hereditary cancer-predisposing syndrome [RCV002405877] Chr15:90761045 [GRCh38]
Chr15:91304275 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1527A>G (p.Pro509=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392537] Chr15:90760900 [GRCh38]
Chr15:91304130 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1376C>T (p.Pro459Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381049] Chr15:90760749 [GRCh38]
Chr15:91303979 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1224G>A (p.Arg408=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364129] Chr15:90760597 [GRCh38]
Chr15:91303827 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4125C>T (p.Ser1375=) single nucleotide variant Bloom syndrome [RCV003505224]|Hereditary cancer-predisposing syndrome [RCV002333021] Chr15:90815150 [GRCh38]
Chr15:91358380 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4133G>C (p.Gly1378Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333079] Chr15:90815158 [GRCh38]
Chr15:91358388 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2376T>A (p.Phe792Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450188] Chr15:90769201 [GRCh38]
Chr15:91312431 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.717T>C (p.Asp239=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370730] Chr15:90749985 [GRCh38]
Chr15:91293215 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.717T>G (p.Asp239Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370731] Chr15:90749985 [GRCh38]
Chr15:91293215 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val) single nucleotide variant Bloom syndrome [RCV003102486]|Hereditary cancer-predisposing syndrome [RCV002357634]|not provided [RCV004999696] Chr15:90811285 [GRCh38]
Chr15:91354515 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2259A>G (p.Leu753=) single nucleotide variant Bloom syndrome [RCV003101174]|Hereditary cancer-predisposing syndrome [RCV002443667] Chr15:90766975 [GRCh38]
Chr15:91310205 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg) single nucleotide variant Bloom syndrome [RCV002304026]|Hereditary cancer-predisposing syndrome [RCV002400433] Chr15:90760952 [GRCh38]
Chr15:91304182 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1582A>G (p.Thr528Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392657] Chr15:90760955 [GRCh38]
Chr15:91304185 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.942C>G (p.Ser314=) single nucleotide variant Bloom syndrome [RCV003094808]|Hereditary cancer-predisposing syndrome [RCV002443417] Chr15:90751929 [GRCh38]
Chr15:91295159 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.471G>A (p.Met157Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335402] Chr15:90749739 [GRCh38]
Chr15:91292969 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2515_2517del (p.Lys839del) deletion Bloom syndrome [RCV003101913]|Hereditary cancer-predisposing syndrome [RCV002432978] Chr15:90769544..90769546 [GRCh38]
Chr15:91312774..91312776 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.587C>T (p.Ala196Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353512] Chr15:90749855 [GRCh38]
Chr15:91293085 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.-5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357992] Chr15:90717440 [GRCh38]
Chr15:91260671 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2478G>A (p.Val826=) single nucleotide variant Bloom syndrome [RCV003775265]|Hereditary cancer-predisposing syndrome [RCV002443927] Chr15:90769509 [GRCh38]
Chr15:91312739 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3254T>A (p.Val1085Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324909] Chr15:90798233 [GRCh38]
Chr15:91341463 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1837A>C (p.Thr613Pro) single nucleotide variant Bloom syndrome [RCV002301480] Chr15:90761210 [GRCh38]
Chr15:91304440 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.290A>G (p.Gln97Arg) single nucleotide variant Bloom syndrome [RCV005098333]|Hereditary cancer-predisposing syndrome [RCV002439803] Chr15:90749558 [GRCh38]
Chr15:91292788 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4065C>T (p.Ser1355=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321417] Chr15:90811395 [GRCh38]
Chr15:91354625 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1222A>G (p.Arg408Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361623] Chr15:90760595 [GRCh38]
Chr15:91303825 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1000G>T (p.Val334Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361630] Chr15:90754851 [GRCh38]
Chr15:91298081 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.277G>A (p.Ala93Thr) single nucleotide variant Bloom syndrome [RCV003775366]|Hereditary cancer-predisposing syndrome [RCV002439718] Chr15:90749545 [GRCh38]
Chr15:91292775 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.722del (p.Gly241fs) deletion Hereditary cancer-predisposing syndrome [RCV002370999] Chr15:90749989 [GRCh38]
Chr15:91293219 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.588A>T (p.Ala196=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353562] Chr15:90749856 [GRCh38]
Chr15:91293086 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.357A>G (p.Val119=) single nucleotide variant Bloom syndrome [RCV003099593]|Hereditary cancer-predisposing syndrome [RCV002460270] Chr15:90749625 [GRCh38]
Chr15:91292855 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1681T>G (p.Phe561Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406044] Chr15:90761054 [GRCh38]
Chr15:91304284 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4077-11T>C single nucleotide variant Bloom syndrome [RCV003074024] Chr15:90815091 [GRCh38]
Chr15:91358321 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+19C>A single nucleotide variant Bloom syndrome [RCV003032965] Chr15:90769605 [GRCh38]
Chr15:91312835 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.716A>C (p.Asp239Ala) single nucleotide variant Bloom syndrome [RCV003013931] Chr15:90749984 [GRCh38]
Chr15:91293214 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2662+14T>C single nucleotide variant Bloom syndrome [RCV003012381] Chr15:90782942 [GRCh38]
Chr15:91326172 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4201C>T (p.Pro1401Ser) single nucleotide variant not provided [RCV002481124] Chr15:90815226 [GRCh38]
Chr15:91358456 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2561G>T (p.Ser854Ile) single nucleotide variant Bloom syndrome [RCV002862507] Chr15:90782827 [GRCh38]
Chr15:91326057 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+8A>G single nucleotide variant Bloom syndrome [RCV002880686] Chr15:90794365 [GRCh38]
Chr15:91337595 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2988T>G (p.His996Gln) single nucleotide variant Bloom syndrome [RCV003016094] Chr15:90790813 [GRCh38]
Chr15:91334043 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1986A>G (p.Lys662=) single nucleotide variant Bloom syndrome [RCV002775579] Chr15:90763069 [GRCh38]
Chr15:91306299 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+5del deletion Bloom syndrome [RCV002730898] Chr15:90769591 [GRCh38]
Chr15:91312821 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1368A>T (p.Ser456=) single nucleotide variant Bloom syndrome [RCV003033006] Chr15:90760741 [GRCh38]
Chr15:91303971 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1882+18T>C single nucleotide variant Bloom syndrome [RCV002858417] Chr15:90761273 [GRCh38]
Chr15:91304503 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.960-16T>A single nucleotide variant Bloom syndrome [RCV002615269] Chr15:90754795 [GRCh38]
Chr15:91298025 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3421A>G (p.Asn1141Asp) single nucleotide variant Bloom syndrome [RCV002775265] Chr15:90803583 [GRCh38]
Chr15:91346813 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2121T>C (p.Pro707=) single nucleotide variant Bloom syndrome [RCV002881040] Chr15:90765342 [GRCh38]
Chr15:91308572 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2649A>G (p.Arg883=) single nucleotide variant Bloom syndrome [RCV003013961] Chr15:90782915 [GRCh38]
Chr15:91326145 [GRCh37]
Chr15:15q26.1		 likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_000057.4(BLM):c.2553G>C (p.Gln851His) single nucleotide variant Bloom syndrome [RCV003016891] Chr15:90769584 [GRCh38]
Chr15:91312814 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1810A>G (p.Lys604Glu) single nucleotide variant Bloom syndrome [RCV002975435] Chr15:90761183 [GRCh38]
Chr15:91304413 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.691T>C (p.Leu231=) single nucleotide variant Bloom syndrome [RCV002947989]|Hereditary cancer-predisposing syndrome [RCV004067243] Chr15:90749959 [GRCh38]
Chr15:91293189 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2676A>G (p.Ile892Met) single nucleotide variant Bloom syndrome [RCV003076397]|Hereditary cancer-predisposing syndrome [RCV003171027] Chr15:90784934 [GRCh38]
Chr15:91328164 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4077-9A>G single nucleotide variant Bloom syndrome [RCV002908477] Chr15:90815093 [GRCh38]
Chr15:91358323 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2523C>T (p.Ile841=) single nucleotide variant Bloom syndrome [RCV002843871] Chr15:90769554 [GRCh38]
Chr15:91312784 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+15T>G single nucleotide variant Bloom syndrome [RCV002902952] Chr15:90754953 [GRCh38]
Chr15:91298183 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter) indel Bloom syndrome [RCV002862791] Chr15:90760604..90760605 [GRCh38]
Chr15:91303834..91303835 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3095dup (p.Asn1032fs) duplication Bloom syndrome [RCV002991645] Chr15:90794238..90794239 [GRCh38]
Chr15:91337468..91337469 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1883-14_1883-11del deletion Bloom syndrome [RCV002974803] Chr15:90762950..90762953 [GRCh38]
Chr15:91306180..91306183 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4151A>T (p.His1384Leu) single nucleotide variant Bloom syndrome [RCV002947928] Chr15:90815176 [GRCh38]
Chr15:91358406 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.358_359dup (p.Thr121fs) duplication Bloom syndrome [RCV003075841] Chr15:90749625..90749626 [GRCh38]
Chr15:91292855..91292856 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.328G>C (p.Asp110His) single nucleotide variant Bloom syndrome [RCV002996617] Chr15:90749596 [GRCh38]
Chr15:91292826 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer) deletion Bloom syndrome [RCV002862809] Chr15:90804218 [GRCh38]
Chr15:91347448 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3044C>A (p.Thr1015Lys) single nucleotide variant Bloom syndrome [RCV002776214] Chr15:90794191 [GRCh38]
Chr15:91337421 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter) single nucleotide variant Bloom syndrome [RCV002903884] Chr15:90785049 [GRCh38]
Chr15:91328279 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3740A>G (p.Lys1247Arg) single nucleotide variant Bloom syndrome [RCV003013874] Chr15:90804348 [GRCh38]
Chr15:91347578 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.573A>G (p.Arg191=) single nucleotide variant Bloom syndrome [RCV002995285] Chr15:90749841 [GRCh38]
Chr15:91293071 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.290A>C (p.Gln97Pro) single nucleotide variant Bloom syndrome [RCV002726819]|Hereditary cancer-predisposing syndrome [RCV004067724] Chr15:90749558 [GRCh38]
Chr15:91292788 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3559-13C>T single nucleotide variant Bloom syndrome [RCV003075727] Chr15:90804154 [GRCh38]
Chr15:91347384 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.823T>C (p.Leu275=) single nucleotide variant Bloom syndrome [RCV002858553] Chr15:90751810 [GRCh38]
Chr15:91295040 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-12G>T single nucleotide variant Bloom syndrome [RCV003014115] Chr15:90809125 [GRCh38]
Chr15:91352355 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2901T>A (p.Pro967=) single nucleotide variant Bloom syndrome [RCV002615478]|Hereditary cancer-predisposing syndrome [RCV004603300] Chr15:90790726 [GRCh38]
Chr15:91333956 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2298T>C (p.Thr766=) single nucleotide variant Bloom syndrome [RCV002971130] Chr15:90767014 [GRCh38]
Chr15:91310244 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs) deletion Bloom syndrome [RCV002838048] Chr15:90760802..90760803 [GRCh38]
Chr15:91304032..91304033 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.960-9T>A single nucleotide variant Bloom syndrome [RCV002838053] Chr15:90754802 [GRCh38]
Chr15:91298032 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+3G>A single nucleotide variant Bloom syndrome [RCV002770958]|Hereditary cancer-predisposing syndrome [RCV004948774]|not provided [RCV004999810] Chr15:90804362 [GRCh38]
Chr15:91347592 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3486T>C (p.Asn1162=) single nucleotide variant Bloom syndrome [RCV002862964] Chr15:90803648 [GRCh38]
Chr15:91346878 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1163A>G (p.Asp388Gly) single nucleotide variant Bloom syndrome [RCV002815170] Chr15:90760222 [GRCh38]
Chr15:91303452 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.231A>C (p.Leu77=) single nucleotide variant Bloom syndrome [RCV002907681] Chr15:90749499 [GRCh38]
Chr15:91292729 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.841C>T (p.His281Tyr) single nucleotide variant Bloom syndrome [RCV002776171] Chr15:90751828 [GRCh38]
Chr15:91295058 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.878A>G (p.Asp293Gly) single nucleotide variant not provided [RCV002462760] Chr15:90751865 [GRCh38]
Chr15:91295095 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3421A>C (p.Asn1141His) single nucleotide variant Bloom syndrome [RCV002815746] Chr15:90803583 [GRCh38]
Chr15:91346813 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3535del (p.Thr1179fs) deletion Bloom syndrome [RCV003076378]|Hereditary cancer-predisposing syndrome [RCV003348997] Chr15:90803695 [GRCh38]
Chr15:91346925 [GRCh37]
Chr15:15q26.1		 pathogenic
GRCh37/hg19 15q26.1(chr15:91217953-91398682)x1 copy number loss not provided [RCV002475617] Chr15:91217953..91398682 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3181G>T (p.Val1061Phe) single nucleotide variant Bloom syndrome [RCV002843077] Chr15:90794328 [GRCh38]
Chr15:91337558 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1087+9A>C single nucleotide variant Bloom syndrome [RCV002842597] Chr15:90754947 [GRCh38]
Chr15:91298177 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1421T>C (p.Leu474Pro) single nucleotide variant Bloom syndrome [RCV002838882] Chr15:90760794 [GRCh38]
Chr15:91304024 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1613C>A (p.Ala538Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004141203] Chr15:90760986 [GRCh38]
Chr15:91304216 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2383G>A (p.Asp795Asn) single nucleotide variant Bloom syndrome [RCV003034179] Chr15:90769208 [GRCh38]
Chr15:91312438 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+11del deletion Bloom syndrome [RCV002842854] Chr15:90804370 [GRCh38]
Chr15:91347600 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-13C>A single nucleotide variant Bloom syndrome [RCV003012124] Chr15:90766897 [GRCh38]
Chr15:91310127 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2171T>G (p.Val724Gly) single nucleotide variant Bloom syndrome [RCV003076159] Chr15:90765392 [GRCh38]
Chr15:91308622 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.745A>G (p.Asn249Asp) single nucleotide variant Bloom syndrome [RCV002908538] Chr15:90750013 [GRCh38]
Chr15:91293243 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2225del (p.Thr742fs) deletion Bloom syndrome [RCV003003091] Chr15:90766941 [GRCh38]
Chr15:91310171 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2194-16C>A single nucleotide variant Bloom syndrome [RCV003038941] Chr15:90766894 [GRCh38]
Chr15:91310124 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1034C>T (p.Pro345Leu) single nucleotide variant Bloom syndrome [RCV003055510] Chr15:90754885 [GRCh38]
Chr15:91298115 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.778A>T (p.Thr260Ser) single nucleotide variant Bloom syndrome [RCV003081427]|Hereditary cancer-predisposing syndrome [RCV003294460] Chr15:90750046 [GRCh38]
Chr15:91293276 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3992G>C (p.Arg1331Thr) single nucleotide variant Bloom syndrome [RCV002640249] Chr15:90811322 [GRCh38]
Chr15:91354552 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1313C>T (p.Pro438Leu) single nucleotide variant Bloom syndrome [RCV003081516] Chr15:90760686 [GRCh38]
Chr15:91303916 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.432A>G (p.Ser144=) single nucleotide variant Bloom syndrome [RCV002640544] Chr15:90749700 [GRCh38]
Chr15:91292930 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2859T>C (p.Ile953=) single nucleotide variant Bloom syndrome [RCV002867855] Chr15:90790684 [GRCh38]
Chr15:91333914 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2721dup (p.Leu908fs) duplication Bloom syndrome [RCV002825380] Chr15:90784978..90784979 [GRCh38]
Chr15:91328208..91328209 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer) deletion Bloom syndrome [RCV003081574] Chr15:90803596..90803597 [GRCh38]
Chr15:91346826..91346827 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2351A>T (p.Tyr784Phe) single nucleotide variant Bloom syndrome [RCV002952766] Chr15:90769176 [GRCh38]
Chr15:91312406 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1891G>C (p.Ala631Pro) single nucleotide variant Bloom syndrome [RCV002636895] Chr15:90762974 [GRCh38]
Chr15:91306204 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter) single nucleotide variant Bloom syndrome [RCV003081168] Chr15:90766924 [GRCh38]
Chr15:91310154 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1220+14C>A single nucleotide variant Bloom syndrome [RCV002953587] Chr15:90760293 [GRCh38]
Chr15:91303523 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407-7C>G single nucleotide variant Bloom syndrome [RCV002953809] Chr15:90769431 [GRCh38]
Chr15:91312661 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3357G>C (p.Leu1119Phe) single nucleotide variant Bloom syndrome [RCV003003140] Chr15:90798336 [GRCh38]
Chr15:91341566 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.925A>G (p.Ile309Val) single nucleotide variant Bloom syndrome [RCV002623099]|Hereditary cancer-predisposing syndrome [RCV003308204] Chr15:90751912 [GRCh38]
Chr15:91295142 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1491G>T (p.Gln497His) single nucleotide variant Bloom syndrome [RCV002637660] Chr15:90760864 [GRCh38]
Chr15:91304094 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2419T>C (p.Phe807Leu) single nucleotide variant Bloom syndrome [RCV003077244] Chr15:90769450 [GRCh38]
Chr15:91312680 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2159T>C (p.Ile720Thr) single nucleotide variant Bloom syndrome [RCV002914179]|Hereditary cancer-predisposing syndrome [RCV004066262] Chr15:90765380 [GRCh38]
Chr15:91308610 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3961G>T (p.Val1321Leu) single nucleotide variant Bloom syndrome [RCV003052825] Chr15:90811291 [GRCh38]
Chr15:91354521 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+18A>C single nucleotide variant Bloom syndrome [RCV002640512] Chr15:90798355 [GRCh38]
Chr15:91341585 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+17C>G single nucleotide variant Bloom syndrome [RCV003018724] Chr15:90760296 [GRCh38]
Chr15:91303526 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+2T>C single nucleotide variant Bloom syndrome [RCV003019439] Chr15:90760281 [GRCh38]
Chr15:91303511 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2307+23del deletion Bloom syndrome [RCV002886143] Chr15:90767043 [GRCh38]
Chr15:91310273 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.800-13T>G single nucleotide variant Bloom syndrome [RCV002658910] Chr15:90751774 [GRCh38]
Chr15:91295004 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.862T>G (p.Cys288Gly) single nucleotide variant Bloom syndrome [RCV002659149] Chr15:90751849 [GRCh38]
Chr15:91295079 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2548_2555+12del deletion Bloom syndrome [RCV003053764] Chr15:90769579..90769598 [GRCh38]
Chr15:91312809..91312828 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.232C>T (p.Pro78Ser) single nucleotide variant Bloom syndrome [RCV002923171]|Hereditary cancer-predisposing syndrome [RCV004948839] Chr15:90749500 [GRCh38]
Chr15:91292730 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2968C>T (p.Leu990=) single nucleotide variant Bloom syndrome [RCV002948924] Chr15:90790793 [GRCh38]
Chr15:91334023 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959+9G>C single nucleotide variant Bloom syndrome [RCV002736768] Chr15:90751955 [GRCh38]
Chr15:91295185 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-15A>T single nucleotide variant Bloom syndrome [RCV002820753] Chr15:90751772 [GRCh38]
Chr15:91295002 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3936T>G (p.Ala1312=) single nucleotide variant Bloom syndrome [RCV003000158] Chr15:90811266 [GRCh38]
Chr15:91354496 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3012_3014dup (p.Ile1005_Met1006insIle) duplication Bloom syndrome [RCV002847174] Chr15:90790835..90790836 [GRCh38]
Chr15:91334065..91334066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.653T>C (p.Ile218Thr) single nucleotide variant Bloom syndrome [RCV003080145]|Hereditary cancer-predisposing syndrome [RCV005301249] Chr15:90749921 [GRCh38]
Chr15:91293151 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1118T>C (p.Ile373Thr) single nucleotide variant Bloom syndrome [RCV002638965]|Hereditary cancer-predisposing syndrome [RCV005308798] Chr15:90760177 [GRCh38]
Chr15:91303407 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.507T>G (p.Phe169Leu) single nucleotide variant Bloom syndrome [RCV003054008] Chr15:90749775 [GRCh38]
Chr15:91293005 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1959G>A (p.Lys653=) single nucleotide variant Bloom syndrome [RCV002621259] Chr15:90763042 [GRCh38]
Chr15:91306272 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3069del (p.Leu1023fs) deletion Bloom syndrome [RCV003038852] Chr15:90794216 [GRCh38]
Chr15:91337446 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1748C>T (p.Ala583Val) single nucleotide variant Bloom syndrome [RCV002619071] Chr15:90761121 [GRCh38]
Chr15:91304351 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3211-5C>G single nucleotide variant Bloom syndrome [RCV003019431] Chr15:90798185 [GRCh38]
Chr15:91341415 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-9T>C single nucleotide variant Bloom syndrome [RCV002824088] Chr15:90809128 [GRCh38]
Chr15:91352358 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3530C>T (p.Ala1177Val) single nucleotide variant Bloom syndrome [RCV002619824] Chr15:90803692 [GRCh38]
Chr15:91346922 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3211-8A>G single nucleotide variant Bloom syndrome [RCV002797066] Chr15:90798182 [GRCh38]
Chr15:91341412 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.468T>C (p.Asp156=) single nucleotide variant Bloom syndrome [RCV002889129] Chr15:90749736 [GRCh38]
Chr15:91292966 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter) single nucleotide variant Bloom syndrome [RCV002824690] Chr15:90790748 [GRCh38]
Chr15:91333978 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3143A>G (p.Asn1048Ser) single nucleotide variant Bloom syndrome [RCV002620150] Chr15:90794290 [GRCh38]
Chr15:91337520 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1857C>G (p.Phe619Leu) single nucleotide variant Bloom syndrome [RCV002761476]|Hereditary cancer-predisposing syndrome [RCV004603230] Chr15:90761230 [GRCh38]
Chr15:91304460 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3906C>T (p.Ser1302=) single nucleotide variant Bloom syndrome [RCV002785393]|Hereditary cancer-predisposing syndrome [RCV004064639] Chr15:90811236 [GRCh38]
Chr15:91354466 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1827A>T (p.Pro609=) single nucleotide variant Bloom syndrome [RCV002847901] Chr15:90761200 [GRCh38]
Chr15:91304430 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.99-1G>T single nucleotide variant Bloom syndrome [RCV002913779] Chr15:90749366 [GRCh38]
Chr15:91292596 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2187del (p.Leu730fs) deletion Bloom syndrome [RCV002510388] Chr15:90765407 [GRCh38]
Chr15:91308637 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.4230_4231insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACACCGTCTCCACCAAAAAAATAAATAGACCGTTTCTT (p.Leu1410_Lys1411insPhePhePhePhePhePheXaaXaaXaaXaaAlaProArgGluAlaGluAlaGlyArgSerLeuAlaValArgSerTrpArgProAlaArgProThrGlnArgAsnThrValSerThrLysLysIleAsnArgProPheLeu) insertion Bloom syndrome [RCV002639962] Chr15:90815237..90815238 [GRCh38]
Chr15:91358467..91358468 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1717A>C (p.Asn573His) single nucleotide variant Bloom syndrome [RCV002820856] Chr15:90761090 [GRCh38]
Chr15:91304320 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter) single nucleotide variant Bloom syndrome [RCV002867696] Chr15:90762977 [GRCh38]
Chr15:91306207 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.579T>C (p.Phe193=) single nucleotide variant Bloom syndrome [RCV003000028] Chr15:90749847 [GRCh38]
Chr15:91293077 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2016G>C (p.Gln672His) single nucleotide variant Bloom syndrome [RCV002622237] Chr15:90763099 [GRCh38]
Chr15:91306329 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter) single nucleotide variant Bloom syndrome [RCV002706733] Chr15:90811321 [GRCh38]
Chr15:91354551 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1204C>G (p.Gln402Glu) single nucleotide variant Bloom syndrome [RCV003038650]|Hereditary cancer-predisposing syndrome [RCV004603273] Chr15:90760263 [GRCh38]
Chr15:91303493 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1312C>T (p.Pro438Ser) single nucleotide variant Bloom syndrome [RCV002735047] Chr15:90760685 [GRCh38]
Chr15:91303915 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2406+11T>A single nucleotide variant Bloom syndrome [RCV002923076] Chr15:90769242 [GRCh38]
Chr15:91312472 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1356G>A (p.Glu452=) single nucleotide variant Bloom syndrome [RCV003037836] Chr15:90760729 [GRCh38]
Chr15:91303959 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4080G>T (p.Gly1360=) single nucleotide variant Bloom syndrome [RCV002912905]|Hereditary cancer-predisposing syndrome [RCV004066039] Chr15:90815105 [GRCh38]
Chr15:91358335 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.147A>C (p.Val49=) single nucleotide variant Bloom syndrome [RCV002867508] Chr15:90749415 [GRCh38]
Chr15:91292645 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr) single nucleotide variant Bloom syndrome [RCV002975972]|Hereditary cancer-predisposing syndrome [RCV004603261] Chr15:90766962 [GRCh38]
Chr15:91310192 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2823+9T>C single nucleotide variant Bloom syndrome [RCV002846439] Chr15:90785090 [GRCh38]
Chr15:91328320 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4118C>A (p.Ser1373Tyr) single nucleotide variant Bloom syndrome [RCV003001964] Chr15:90815143 [GRCh38]
Chr15:91358373 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.959+12A>G single nucleotide variant Bloom syndrome [RCV003080354] Chr15:90751958 [GRCh38]
Chr15:91295188 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.804T>C (p.Asn268=) single nucleotide variant Bloom syndrome [RCV002866588] Chr15:90751791 [GRCh38]
Chr15:91295021 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3399A>C (p.Lys1133Asn) single nucleotide variant Bloom syndrome [RCV002824732] Chr15:90803561 [GRCh38]
Chr15:91346791 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer) deletion Bloom syndrome [RCV002867303] Chr15:90760609..90760612 [GRCh38]
Chr15:91303839..91303842 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2193+16A>G single nucleotide variant Bloom syndrome [RCV003021230] Chr15:90765430 [GRCh38]
Chr15:91308660 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3647A>G (p.Lys1216Arg) single nucleotide variant Bloom syndrome [RCV002691224] Chr15:90804255 [GRCh38]
Chr15:91347485 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.352G>A (p.Val118Ile) single nucleotide variant Bloom syndrome [RCV002622073] Chr15:90749620 [GRCh38]
Chr15:91292850 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1073G>A (p.Ser358Asn) single nucleotide variant Bloom syndrome [RCV002843952] Chr15:90754924 [GRCh38]
Chr15:91298154 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+1G>A single nucleotide variant Bloom syndrome [RCV002885290]|Hereditary cancer-predisposing syndrome [RCV004065024] Chr15:90798338 [GRCh38]
Chr15:91341568 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.959+19T>C single nucleotide variant Bloom syndrome [RCV002846398] Chr15:90751965 [GRCh38]
Chr15:91295195 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs) deletion Bloom syndrome [RCV002846630] Chr15:90766956..90766969 [GRCh38]
Chr15:91310186..91310199 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4146C>T (p.Ala1382=) single nucleotide variant Bloom syndrome [RCV003083024] Chr15:90815171 [GRCh38]
Chr15:91358401 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1546G>A (p.Glu516Lys) single nucleotide variant Bloom syndrome [RCV003056045] Chr15:90760919 [GRCh38]
Chr15:91304149 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1883-14G>T single nucleotide variant Bloom syndrome [RCV002872347] Chr15:90762952 [GRCh38]
Chr15:91306182 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.617C>T (p.Thr206Ile) single nucleotide variant Bloom syndrome [RCV002805825] Chr15:90749885 [GRCh38]
Chr15:91293115 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.487del (p.Ser163fs) deletion Bloom syndrome [RCV002893980] Chr15:90749754 [GRCh38]
Chr15:91292984 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2407-14T>A single nucleotide variant Bloom syndrome [RCV002876167] Chr15:90769424 [GRCh38]
Chr15:91312654 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter) indel Bloom syndrome [RCV003008212] Chr15:90811332..90811333 [GRCh38]
Chr15:91354562..91354563 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2544C>G (p.Leu848=) single nucleotide variant Bloom syndrome [RCV003085772]|Hereditary cancer-predisposing syndrome [RCV004603288] Chr15:90769575 [GRCh38]
Chr15:91312805 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2308-17A>G single nucleotide variant Bloom syndrome [RCV002645817] Chr15:90769116 [GRCh38]
Chr15:91312346 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1505G>A (p.Ser502Asn) single nucleotide variant Bloom syndrome [RCV002957319] Chr15:90760878 [GRCh38]
Chr15:91304108 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.339G>A (p.Gln113=) single nucleotide variant Bloom syndrome [RCV002829678] Chr15:90749607 [GRCh38]
Chr15:91292837 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3541C>T (p.Leu1181=) single nucleotide variant Bloom syndrome [RCV003086005]|Hereditary cancer-predisposing syndrome [RCV005301245] Chr15:90803703 [GRCh38]
Chr15:91346933 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2835T>C (p.Ala945=) single nucleotide variant Bloom syndrome [RCV002894334] Chr15:90790660 [GRCh38]
Chr15:91333890 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3921C>G (p.Pro1307=) single nucleotide variant Bloom syndrome [RCV002623955] Chr15:90811251 [GRCh38]
Chr15:91354481 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+1G>A single nucleotide variant Bloom syndrome [RCV002876562] Chr15:90809260 [GRCh38]
Chr15:91352490 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3081A>G (p.Val1027=) single nucleotide variant Bloom syndrome [RCV002852466] Chr15:90794228 [GRCh38]
Chr15:91337458 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.899T>C (p.Phe300Ser) single nucleotide variant Bloom syndrome [RCV003083286]|Hereditary cancer-predisposing syndrome [RCV003171082] Chr15:90751886 [GRCh38]
Chr15:91295116 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2872G>T (p.Val958Leu) single nucleotide variant Bloom syndrome [RCV002917645]|Hereditary cancer-predisposing syndrome [RCV004066078] Chr15:90790697 [GRCh38]
Chr15:91333927 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4013dup (p.Met1339fs) duplication Bloom syndrome [RCV002872739] Chr15:90811338..90811339 [GRCh38]
Chr15:91354568..91354569 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1064C>A (p.Pro355Gln) single nucleotide variant Bloom syndrome [RCV002623977]|Hereditary cancer-predisposing syndrome [RCV004070671] Chr15:90754915 [GRCh38]
Chr15:91298145 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3211-7T>A single nucleotide variant Bloom syndrome [RCV002828066] Chr15:90798183 [GRCh38]
Chr15:91341413 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2491G>C (p.Ala831Pro) single nucleotide variant Bloom syndrome [RCV003023089] Chr15:90769522 [GRCh38]
Chr15:91312752 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+20G>C single nucleotide variant Bloom syndrome [RCV002890919] Chr15:90769606 [GRCh38]
Chr15:91312836 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-15T>C single nucleotide variant Bloom syndrome [RCV002851497] Chr15:90804152 [GRCh38]
Chr15:91347382 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1212G>A (p.Arg404=) single nucleotide variant Bloom syndrome [RCV002917266] Chr15:90760271 [GRCh38]
Chr15:91303501 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu) single nucleotide variant Bloom syndrome [RCV003082865]|Hereditary cancer-predisposing syndrome [RCV004073242] Chr15:90804227 [GRCh38]
Chr15:91347457 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1221-6C>A single nucleotide variant Bloom syndrome [RCV003005533] Chr15:90760588 [GRCh38]
Chr15:91303818 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2574C>T (p.Asn858=) single nucleotide variant Bloom syndrome [RCV002872165] Chr15:90782840 [GRCh38]
Chr15:91326070 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.196A>G (p.Asn66Asp) single nucleotide variant Bloom syndrome [RCV003005699] Chr15:90749464 [GRCh38]
Chr15:91292694 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2797A>G (p.Lys933Glu) single nucleotide variant Bloom syndrome [RCV002830011] Chr15:90785055 [GRCh38]
Chr15:91328285 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+17T>C single nucleotide variant Bloom syndrome [RCV003083902] Chr15:90794374 [GRCh38]
Chr15:91337604 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2825T>C (p.Val942Ala) single nucleotide variant Bloom syndrome [RCV003059512] Chr15:90790650 [GRCh38]
Chr15:91333880 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter) single nucleotide variant Bloom syndrome [RCV003022513] Chr15:90761205 [GRCh38]
Chr15:91304435 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3019+23_3019+24del microsatellite Bloom syndrome [RCV002801720] Chr15:90790864..90790865 [GRCh38]
Chr15:91334094..91334095 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.77_87del (p.Ser26fs) deletion Bloom syndrome [RCV002918047] Chr15:90747467..90747477 [GRCh38]
Chr15:91290697..91290707 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2422C>G (p.Arg808Gly) single nucleotide variant Bloom syndrome [RCV002786537]|not provided [RCV004801243] Chr15:90769453 [GRCh38]
Chr15:91312683 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4077-6T>A single nucleotide variant Bloom syndrome [RCV002701120] Chr15:90815096 [GRCh38]
Chr15:91358326 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala) single nucleotide variant Bloom syndrome [RCV003023767]|Hereditary cancer-predisposing syndrome [RCV003170895]|not provided [RCV005254668] Chr15:90798209 [GRCh38]
Chr15:91341439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2032G>T (p.Ala678Ser) single nucleotide variant Bloom syndrome [RCV003024467] Chr15:90763115 [GRCh38]
Chr15:91306345 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3467del (p.Asp1156fs) deletion Bloom syndrome [RCV003005652] Chr15:90803629 [GRCh38]
Chr15:91346859 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3559-9C>T single nucleotide variant Bloom syndrome [RCV003005877] Chr15:90804158 [GRCh38]
Chr15:91347388 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.633C>A (p.Pro211=) single nucleotide variant Bloom syndrome [RCV002574517] Chr15:90749901 [GRCh38]
Chr15:91293131 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1493A>G (p.Lys498Arg) single nucleotide variant Bloom syndrome [RCV005099777]|Hereditary cancer-predisposing syndrome [RCV004148539] Chr15:90760866 [GRCh38]
Chr15:91304096 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter) single nucleotide variant Bloom syndrome [RCV003058483] Chr15:90794265 [GRCh38]
Chr15:91337495 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1557T>C (p.Tyr519=) single nucleotide variant Bloom syndrome [RCV003084563]|Hereditary cancer-predisposing syndrome [RCV004073144] Chr15:90760930 [GRCh38]
Chr15:91304160 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter) single nucleotide variant Bloom syndrome [RCV003057527] Chr15:90804236 [GRCh38]
Chr15:91347466 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3748G>A (p.Ala1250Thr) single nucleotide variant Bloom syndrome [RCV002741478] Chr15:90804356 [GRCh38]
Chr15:91347586 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4138A>G (p.Ser1380Gly) single nucleotide variant Bloom syndrome [RCV002958053] Chr15:90815163 [GRCh38]
Chr15:91358393 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.444A>G (p.Leu148=) single nucleotide variant Bloom syndrome [RCV002711269]|Hereditary cancer-predisposing syndrome [RCV003348901] Chr15:90749712 [GRCh38]
Chr15:91292942 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2400C>A (p.Val800=) single nucleotide variant Bloom syndrome [RCV002853439] Chr15:90769225 [GRCh38]
Chr15:91312455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3299del (p.Ile1100fs) deletion Bloom syndrome [RCV002829347] Chr15:90798278 [GRCh38]
Chr15:91341508 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2232A>G (p.Ser744=) single nucleotide variant Bloom syndrome [RCV002894435] Chr15:90766948 [GRCh38]
Chr15:91310178 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+20A>C single nucleotide variant Bloom syndrome [RCV002876118] Chr15:90785101 [GRCh38]
Chr15:91328331 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs) deletion Bloom syndrome [RCV003039704] Chr15:90794226..90794227 [GRCh38]
Chr15:91337456..91337457 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2234A>G (p.Glu745Gly) single nucleotide variant Bloom syndrome [RCV003005537] Chr15:90766950 [GRCh38]
Chr15:91310180 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3359-7T>C single nucleotide variant Bloom syndrome [RCV003005584] Chr15:90803514 [GRCh38]
Chr15:91346744 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2733T>C (p.Asp911=) single nucleotide variant Bloom syndrome [RCV002643824] Chr15:90784991 [GRCh38]
Chr15:91328221 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2705A>G (p.Asp902Gly) single nucleotide variant Bloom syndrome [RCV003023865] Chr15:90784963 [GRCh38]
Chr15:91328193 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1221-3C>T single nucleotide variant Bloom syndrome [RCV002801787] Chr15:90760591 [GRCh38]
Chr15:91303821 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3874+15A>G single nucleotide variant Bloom syndrome [RCV002700087] Chr15:90809274 [GRCh38]
Chr15:91352504 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1339G>T (p.Gly447Trp) single nucleotide variant Bloom syndrome [RCV003024870] Chr15:90760712 [GRCh38]
Chr15:91303942 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.800-14C>T single nucleotide variant Bloom syndrome [RCV002663451] Chr15:90751773 [GRCh38]
Chr15:91295003 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter) single nucleotide variant Bloom syndrome [RCV003023866] Chr15:90760254 [GRCh38]
Chr15:91303484 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2074+14G>C single nucleotide variant Bloom syndrome [RCV002765658] Chr15:90763171 [GRCh38]
Chr15:91306401 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro) single nucleotide variant Bloom syndrome [RCV002625201]|Hereditary cancer-predisposing syndrome [RCV004603306] Chr15:90760174 [GRCh38]
Chr15:91303404 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+6T>A single nucleotide variant Bloom syndrome [RCV002876289] Chr15:90811412 [GRCh38]
Chr15:91354642 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2074+12dup duplication Bloom syndrome [RCV002876296] Chr15:90763164..90763165 [GRCh38]
Chr15:91306394..91306395 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2110T>C (p.Cys704Arg) single nucleotide variant Bloom syndrome [RCV003057180] Chr15:90765331 [GRCh38]
Chr15:91308561 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+7G>A single nucleotide variant Bloom syndrome [RCV002890841] Chr15:90747497 [GRCh38]
Chr15:91290727 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1882G>A (p.Asp628Asn) single nucleotide variant Bloom syndrome [RCV002852033] Chr15:90761255 [GRCh38]
Chr15:91304485 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3548G>C (p.Gly1183Ala) single nucleotide variant Bloom syndrome [RCV002828454] Chr15:90803710 [GRCh38]
Chr15:91346940 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1083T>C (p.Cys361=) single nucleotide variant Bloom syndrome [RCV002875566] Chr15:90754934 [GRCh38]
Chr15:91298164 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1594G>A (p.Asp532Asn) single nucleotide variant Bloom syndrome [RCV002575256]|Hereditary cancer-predisposing syndrome [RCV005301156] Chr15:90760967 [GRCh38]
Chr15:91304197 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.299dup (p.Arg101fs) duplication Bloom syndrome [RCV002642857]|not provided [RCV003228094] Chr15:90749566..90749567 [GRCh38]
Chr15:91292796..91292797 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1088-9A>T single nucleotide variant Bloom syndrome [RCV002894339] Chr15:90760138 [GRCh38]
Chr15:91303368 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.2556-12G>A single nucleotide variant Bloom syndrome [RCV003022160] Chr15:90782810 [GRCh38]
Chr15:91326040 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2063T>C (p.Leu688Pro) single nucleotide variant Bloom syndrome [RCV002596288] Chr15:90763146 [GRCh38]
Chr15:91306376 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3019+15A>G single nucleotide variant Bloom syndrome [RCV002624382] Chr15:90790859 [GRCh38]
Chr15:91334089 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-5T>A single nucleotide variant Bloom syndrome [RCV002877534] Chr15:90760142 [GRCh38]
Chr15:91303372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter) single nucleotide variant Bloom syndrome [RCV003044385]|Hereditary cancer-predisposing syndrome [RCV004948935] Chr15:90760910 [GRCh38]
Chr15:91304140 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.399T>C (p.Asp133=) single nucleotide variant Bloom syndrome [RCV002812132] Chr15:90749667 [GRCh38]
Chr15:91292897 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3952G>A (p.Glu1318Lys) single nucleotide variant Bloom syndrome [RCV002631063] Chr15:90811282 [GRCh38]
Chr15:91354512 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2344A>G (p.Asn782Asp) single nucleotide variant Bloom syndrome [RCV003031649] Chr15:90769169 [GRCh38]
Chr15:91312399 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2385T>C (p.Asp795=) single nucleotide variant Bloom syndrome [RCV002810923]|Hereditary cancer-predisposing syndrome [RCV004948789] Chr15:90769210 [GRCh38]
Chr15:91312440 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3259T>C (p.Phe1087Leu) single nucleotide variant Bloom syndrome [RCV003048317] Chr15:90798238 [GRCh38]
Chr15:91341468 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1770_1772dup (p.Arg591_Pro592insArg) duplication Bloom syndrome [RCV003046423] Chr15:90761141..90761142 [GRCh38]
Chr15:91304371..91304372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3554_3559-116del deletion Bloom syndrome [RCV003047405] Chr15:90803715..90804050 [GRCh38]
Chr15:91346945..91347280 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2406+14T>A single nucleotide variant Bloom syndrome [RCV002966355] Chr15:90769245 [GRCh38]
Chr15:91312475 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.889G>T (p.Asp297Tyr) single nucleotide variant Bloom syndrome [RCV002602339] Chr15:90751876 [GRCh38]
Chr15:91295106 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1915C>A (p.Leu639Met) single nucleotide variant Bloom syndrome [RCV002745926] Chr15:90762998 [GRCh38]
Chr15:91306228 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4050T>C (p.Thr1350=) single nucleotide variant Bloom syndrome [RCV002937971]|Hereditary cancer-predisposing syndrome [RCV003348945] Chr15:90811380 [GRCh38]
Chr15:91354610 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1921del (p.His641fs) deletion Bloom syndrome [RCV003029631]|Hereditary cancer-predisposing syndrome [RCV003294385] Chr15:90763004 [GRCh38]
Chr15:91306234 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3751+17C>T single nucleotide variant Bloom syndrome [RCV003061030] Chr15:90804376 [GRCh38]
Chr15:91347606 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4041G>A (p.Arg1347=) single nucleotide variant Bloom syndrome [RCV002628981] Chr15:90811371 [GRCh38]
Chr15:91354601 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.403G>A (p.Ala135Thr) single nucleotide variant Bloom syndrome [RCV003091865]|not provided [RCV005414663] Chr15:90749671 [GRCh38]
Chr15:91292901 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter) single nucleotide variant Bloom syndrome [RCV002810370] Chr15:90790832 [GRCh38]
Chr15:91334062 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3020-4T>C single nucleotide variant Bloom syndrome [RCV002649551] Chr15:90794163 [GRCh38]
Chr15:91337393 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1624G>A (p.Asp542Asn) single nucleotide variant Bloom syndrome [RCV002671037] Chr15:90760997 [GRCh38]
Chr15:91304227 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1683T>C (p.Phe561=) single nucleotide variant Bloom syndrome [RCV002962469] Chr15:90761056 [GRCh38]
Chr15:91304286 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.446G>C (p.Ser149Thr) single nucleotide variant Bloom syndrome [RCV003028709] Chr15:90749714 [GRCh38]
Chr15:91292944 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3411T>C (p.Tyr1137=) single nucleotide variant Bloom syndrome [RCV003044361] Chr15:90803573 [GRCh38]
Chr15:91346803 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-4T>A single nucleotide variant Bloom syndrome [RCV002856853] Chr15:90794163 [GRCh38]
Chr15:91337393 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3215A>T (p.Tyr1072Phe) single nucleotide variant Bloom syndrome [RCV002648023] Chr15:90798194 [GRCh38]
Chr15:91341424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3580A>G (p.Asn1194Asp) single nucleotide variant Bloom syndrome [RCV002922069] Chr15:90804188 [GRCh38]
Chr15:91347418 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.811_815del (p.Lys271fs) deletion Bloom syndrome [RCV003062089] Chr15:90751795..90751799 [GRCh38]
Chr15:91295025..91295029 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3347A>T (p.Asp1116Val) single nucleotide variant Bloom syndrome [RCV002746511] Chr15:90798326 [GRCh38]
Chr15:91341556 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1101T>C (p.Ser367=) single nucleotide variant Bloom syndrome [RCV003028771] Chr15:90760160 [GRCh38]
Chr15:91303390 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter) single nucleotide variant Bloom syndrome [RCV003011020] Chr15:90763103 [GRCh38]
Chr15:91306333 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2614A>G (p.Lys872Glu) single nucleotide variant Bloom syndrome [RCV002671327]|Hereditary cancer-predisposing syndrome [RCV003375667] Chr15:90782880 [GRCh38]
Chr15:91326110 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1770T>C (p.Gly590=) single nucleotide variant Bloom syndrome [RCV003088386]|Hereditary cancer-predisposing syndrome [RCV003161792] Chr15:90761143 [GRCh38]
Chr15:91304373 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3231G>C (p.Val1077=) single nucleotide variant Bloom syndrome [RCV003010351] Chr15:90798210 [GRCh38]
Chr15:91341440 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2725_2751del (p.Gln909_Ala917del) deletion Bloom syndrome [RCV002899232] Chr15:90784983..90785009 [GRCh38]
Chr15:91328213..91328239 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr) single nucleotide variant Bloom syndrome [RCV002962363]|Hereditary cancer-predisposing syndrome [RCV003170737] Chr15:90760198 [GRCh38]
Chr15:91303428 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter) single nucleotide variant Bloom syndrome [RCV002962911] Chr15:90790751 [GRCh38]
Chr15:91333981 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.531T>C (p.Phe177=) single nucleotide variant Bloom syndrome [RCV002630358] Chr15:90749799 [GRCh38]
Chr15:91293029 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2307+15C>A single nucleotide variant Bloom syndrome [RCV003028340] Chr15:90767038 [GRCh38]
Chr15:91310268 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4176C>T (p.Ala1392=) single nucleotide variant Bloom syndrome [RCV002899255] Chr15:90815201 [GRCh38]
Chr15:91358431 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4225T>C (p.Phe1409Leu) single nucleotide variant Bloom syndrome [RCV002922370] Chr15:90815250 [GRCh38]
Chr15:91358480 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1088-19C>G single nucleotide variant Bloom syndrome [RCV002937201] Chr15:90760128 [GRCh38]
Chr15:91303358 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2633G>A (p.Cys878Tyr) single nucleotide variant Bloom syndrome [RCV003087966]|Hereditary cancer-predisposing syndrome [RCV005301246] Chr15:90782899 [GRCh38]
Chr15:91326129 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2075-14T>G single nucleotide variant Bloom syndrome [RCV002629544] Chr15:90765282 [GRCh38]
Chr15:91308512 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.1977del (p.His660fs) deletion Bloom syndrome [RCV003009024] Chr15:90763056 [GRCh38]
Chr15:91306286 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2556-19A>T single nucleotide variant Bloom syndrome [RCV003045624] Chr15:90782803 [GRCh38]
Chr15:91326033 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.731C>T (p.Ala244Val) single nucleotide variant Bloom syndrome [RCV002806481]|Hereditary cancer-predisposing syndrome [RCV004948779] Chr15:90749999 [GRCh38]
Chr15:91293229 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2031T>C (p.Asn677=) single nucleotide variant Bloom syndrome [RCV003027171] Chr15:90763114 [GRCh38]
Chr15:91306344 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823+12A>G single nucleotide variant Bloom syndrome [RCV003086084] Chr15:90785093 [GRCh38]
Chr15:91328323 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3901C>T (p.Leu1301=) single nucleotide variant Bloom syndrome [RCV003009841]|Hereditary cancer-predisposing syndrome [RCV003170852] Chr15:90811231 [GRCh38]
Chr15:91354461 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2307+7A>G single nucleotide variant Bloom syndrome [RCV002833703] Chr15:90767030 [GRCh38]
Chr15:91310260 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1461T>C (p.Phe487=) single nucleotide variant Bloom syndrome [RCV002834231] Chr15:90760834 [GRCh38]
Chr15:91304064 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-15T>G single nucleotide variant Bloom syndrome [RCV002988671] Chr15:90809122 [GRCh38]
Chr15:91352352 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3320G>A (p.Gly1107Glu) single nucleotide variant Bloom syndrome [RCV002806007] Chr15:90798299 [GRCh38]
Chr15:91341529 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer) deletion Bloom syndrome [RCV002877204] Chr15:90751851 [GRCh38]
Chr15:91295081 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.4064C>T (p.Ser1355Phe) single nucleotide variant Bloom syndrome [RCV003064003] Chr15:90811394 [GRCh38]
Chr15:91354624 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3201T>C (p.Cys1067=) single nucleotide variant Bloom syndrome [RCV002938676] Chr15:90794348 [GRCh38]
Chr15:91337578 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.559A>C (p.Lys187Gln) single nucleotide variant Bloom syndrome [RCV003047542]|Hereditary cancer-predisposing syndrome [RCV004603276] Chr15:90749827 [GRCh38]
Chr15:91293057 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1840G>C (p.Ala614Pro) single nucleotide variant Bloom syndrome [RCV003064310] Chr15:90761213 [GRCh38]
Chr15:91304443 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.328G>T (p.Asp110Tyr) single nucleotide variant Bloom syndrome [RCV003009933] Chr15:90749596 [GRCh38]
Chr15:91292826 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.522_523del (p.His176fs) deletion Bloom syndrome [RCV003029087] Chr15:90749789..90749790 [GRCh38]
Chr15:91293019..91293020 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3614T>A (p.Val1205Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004141059] Chr15:90804222 [GRCh38]
Chr15:91347452 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3157G>A (p.Asp1053Asn) single nucleotide variant Bloom syndrome [RCV002963162] Chr15:90794304 [GRCh38]
Chr15:91337534 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+13T>C single nucleotide variant Bloom syndrome [RCV002966101] Chr15:90798350 [GRCh38]
Chr15:91341580 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2715T>C (p.Ala905=) single nucleotide variant Bloom syndrome [RCV002811326] Chr15:90784973 [GRCh38]
Chr15:91328203 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.678T>C (p.Asp226=) single nucleotide variant Bloom syndrome [RCV003046630] Chr15:90749946 [GRCh38]
Chr15:91293176 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2662+11C>T single nucleotide variant Bloom syndrome [RCV002857436] Chr15:90782939 [GRCh38]
Chr15:91326169 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-6T>C single nucleotide variant Bloom syndrome [RCV002835207] Chr15:90803515 [GRCh38]
Chr15:91346745 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3336T>A (p.Asn1112Lys) single nucleotide variant Bloom syndrome [RCV003030455] Chr15:90798315 [GRCh38]
Chr15:91341545 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.739C>T (p.His247Tyr) single nucleotide variant Bloom syndrome [RCV003047910] Chr15:90750007 [GRCh38]
Chr15:91293237 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2762G>T (p.Gly921Val) single nucleotide variant Bloom syndrome [RCV002900100] Chr15:90785020 [GRCh38]
Chr15:91328250 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3502A>T (p.Ile1168Phe) single nucleotide variant Bloom syndrome [RCV002580956] Chr15:90803664 [GRCh38]
Chr15:91346894 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser) single nucleotide variant Bloom syndrome [RCV003060439]|Hereditary cancer-predisposing syndrome [RCV004070252] Chr15:90811323 [GRCh38]
Chr15:91354553 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1883-8T>G single nucleotide variant Bloom syndrome [RCV002898942] Chr15:90762958 [GRCh38]
Chr15:91306188 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+13A>C single nucleotide variant Bloom syndrome [RCV003030782] Chr15:90769599 [GRCh38]
Chr15:91312829 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2438G>C (p.Arg813Thr) single nucleotide variant Bloom syndrome [RCV002650516] Chr15:90769469 [GRCh38]
Chr15:91312699 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3131A>C (p.Tyr1044Ser) single nucleotide variant Bloom syndrome [RCV002934002] Chr15:90794278 [GRCh38]
Chr15:91337508 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter) single nucleotide variant Bloom syndrome [RCV003047188] Chr15:90760152 [GRCh38]
Chr15:91303382 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3512T>G (p.Val1171Gly) single nucleotide variant Bloom syndrome [RCV002810936] Chr15:90803674 [GRCh38]
Chr15:91346904 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1445C>A (p.Thr482Asn) single nucleotide variant Bloom syndrome [RCV002811174] Chr15:90760818 [GRCh38]
Chr15:91304048 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+15T>G single nucleotide variant Bloom syndrome [RCV002895478] Chr15:90794372 [GRCh38]
Chr15:91337602 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter) single nucleotide variant Bloom syndrome [RCV002856366] Chr15:90804219 [GRCh38]
Chr15:91347449 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.3995A>T (p.Asn1332Ile) single nucleotide variant Bloom syndrome [RCV003046400] Chr15:90811325 [GRCh38]
Chr15:91354555 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1883-19A>G single nucleotide variant Bloom syndrome [RCV002899600] Chr15:90762947 [GRCh38]
Chr15:91306177 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3958C>T (p.Pro1320Ser) single nucleotide variant Bloom syndrome [RCV003063811] Chr15:90811288 [GRCh38]
Chr15:91354518 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1336A>G (p.Thr446Ala) single nucleotide variant Bloom syndrome [RCV003049070] Chr15:90760709 [GRCh38]
Chr15:91303939 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys) single nucleotide variant Bloom syndrome [RCV002600102]|Hereditary cancer [RCV003492771]|Hereditary cancer-predisposing syndrome [RCV004948718]|not provided [RCV003477010] Chr15:90765362 [GRCh38]
Chr15:91308592 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.941C>T (p.Ser314Phe) single nucleotide variant Bloom syndrome [RCV002629917]|Hereditary cancer-predisposing syndrome [RCV005301276] Chr15:90751928 [GRCh38]
Chr15:91295158 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3486T>G (p.Asn1162Lys) single nucleotide variant Bloom syndrome [RCV002647515] Chr15:90803648 [GRCh38]
Chr15:91346878 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2663-13G>A single nucleotide variant Bloom syndrome [RCV002898885] Chr15:90784908 [GRCh38]
Chr15:91328138 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.636C>G (p.Ser212=) single nucleotide variant Bloom syndrome [RCV003064016]|Hereditary cancer-predisposing syndrome [RCV003170955] Chr15:90749904 [GRCh38]
Chr15:91293134 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.513A>G (p.Thr171=) single nucleotide variant Bloom syndrome [RCV002856774] Chr15:90749781 [GRCh38]
Chr15:91293011 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1425A>G (p.Gly475=) single nucleotide variant Bloom syndrome [RCV002834308] Chr15:90760798 [GRCh38]
Chr15:91304028 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.40G>A (p.Glu14Lys) single nucleotide variant Bloom syndrome [RCV002650970] Chr15:90747432 [GRCh38]
Chr15:91290662 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.714C>T (p.Ile238=) single nucleotide variant Bloom syndrome [RCV002676074]|Hereditary cancer-predisposing syndrome [RCV004603216] Chr15:90749982 [GRCh38]
Chr15:91293212 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2384A>C (p.Asp795Ala) single nucleotide variant Bloom syndrome [RCV003026781] Chr15:90769209 [GRCh38]
Chr15:91312439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter) single nucleotide variant Bloom syndrome [RCV003046822] Chr15:90760976 [GRCh38]
Chr15:91304206 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs) insertion Bloom syndrome [RCV003061991] Chr15:90761190..90761191 [GRCh38]
Chr15:91304420..91304421 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2375T>G (p.Phe792Cys) single nucleotide variant Bloom syndrome [RCV003045958] Chr15:90769200 [GRCh38]
Chr15:91312430 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.211T>A (p.Phe71Ile) single nucleotide variant Bloom syndrome [RCV002814616]|Hereditary cancer-predisposing syndrome [RCV004064867] Chr15:90749479 [GRCh38]
Chr15:91292709 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3436T>C (p.Phe1146Leu) single nucleotide variant Bloom syndrome [RCV002680694] Chr15:90803598 [GRCh38]
Chr15:91346828 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp) single nucleotide variant Bloom syndrome [RCV003051323]|Hereditary cancer-predisposing syndrome [RCV003171033] Chr15:90760653 [GRCh38]
Chr15:91303883 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2673G>T (p.Gly891=) single nucleotide variant Bloom syndrome [RCV003066138] Chr15:90784931 [GRCh38]
Chr15:91328161 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr) single nucleotide variant Bloom syndrome [RCV002604129]|Hereditary cancer-predisposing syndrome [RCV003167486] Chr15:90798283 [GRCh38]
Chr15:91341513 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1803C>T (p.Ser601=) single nucleotide variant Bloom syndrome [RCV003092318]|Hereditary cancer-predisposing syndrome [RCV004948971] Chr15:90761176 [GRCh38]
Chr15:91304406 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1928G>T (p.Arg643Leu) single nucleotide variant Bloom syndrome [RCV002605344]|not provided [RCV004999787] Chr15:90763011 [GRCh38]
Chr15:91306241 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.990A>G (p.Arg330=) single nucleotide variant Bloom syndrome [RCV003052485]|Hereditary cancer-predisposing syndrome [RCV004948937] Chr15:90754841 [GRCh38]
Chr15:91298071 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4077-2del deletion Bloom syndrome [RCV003069362] Chr15:90815100 [GRCh38]
Chr15:91358330 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.695G>A (p.Ser232Asn) single nucleotide variant Bloom syndrome [RCV003067915]|Hereditary cancer-predisposing syndrome [RCV004071681] Chr15:90749963 [GRCh38]
Chr15:91293193 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4164G>C (p.Ala1388=) single nucleotide variant Bloom syndrome [RCV002635344] Chr15:90815189 [GRCh38]
Chr15:91358419 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.28C>T (p.Gln10Ter) single nucleotide variant Bloom syndrome [RCV002635373] Chr15:90747420 [GRCh38]
Chr15:91290650 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3020-19T>C single nucleotide variant Bloom syndrome [RCV002658307] Chr15:90794148 [GRCh38]
Chr15:91337378 [GRCh37]
Chr15:15q26.1		 likely benign|conflicting interpretations of pathogenicity
NM_000057.4(BLM):c.3752-14A>G single nucleotide variant Bloom syndrome [RCV003071311] Chr15:90809123 [GRCh38]
Chr15:91352353 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1150G>A (p.Asp384Asn) single nucleotide variant Bloom syndrome [RCV002609256] Chr15:90760209 [GRCh38]
Chr15:91303439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2368G>C (p.Ala790Pro) single nucleotide variant Bloom syndrome [RCV002584800]|Hereditary cancer-predisposing syndrome [RCV004949000] Chr15:90769193 [GRCh38]
Chr15:91312423 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs) microsatellite Bloom syndrome [RCV003049728] Chr15:90769464..90769465 [GRCh38]
Chr15:91312694..91312695 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4017G>A (p.Met1339Ile) single nucleotide variant Bloom syndrome [RCV002606517] Chr15:90811347 [GRCh38]
Chr15:91354577 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.449C>T (p.Thr150Ile) single nucleotide variant Bloom syndrome [RCV002634712]|Hereditary cancer-predisposing syndrome [RCV004948724] Chr15:90749717 [GRCh38]
Chr15:91292947 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2435A>G (p.Lys812Arg) single nucleotide variant Bloom syndrome [RCV003067805]|Hereditary cancer-predisposing syndrome [RCV004071675] Chr15:90769466 [GRCh38]
Chr15:91312696 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.461G>A (p.Trp154Ter) single nucleotide variant Bloom syndrome [RCV003093333]|Hereditary cancer-predisposing syndrome [RCV003161737] Chr15:90749729 [GRCh38]
Chr15:91292959 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3874+16T>C single nucleotide variant Bloom syndrome [RCV002654218] Chr15:90809275 [GRCh38]
Chr15:91352505 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3362G>A (p.Ser1121Asn) single nucleotide variant Bloom syndrome [RCV003071935]|Hereditary cancer-predisposing syndrome [RCV004948956] Chr15:90803524 [GRCh38]
Chr15:91346754 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2109C>A (p.Ala703=) single nucleotide variant Bloom syndrome [RCV002606836] Chr15:90765330 [GRCh38]
Chr15:91308560 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.646G>T (p.Glu216Ter) single nucleotide variant Bloom syndrome [RCV002588044] Chr15:90749914 [GRCh38]
Chr15:91293144 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro) single nucleotide variant Bloom syndrome [RCV002608747]|Hereditary cancer-predisposing syndrome [RCV004065755] Chr15:90790722 [GRCh38]
Chr15:91333952 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1365T>C (p.Phe455=) single nucleotide variant Bloom syndrome [RCV002610251]|Hereditary cancer-predisposing syndrome [RCV005301254] Chr15:90760738 [GRCh38]
Chr15:91303968 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-16del deletion Bloom syndrome [RCV003071206] Chr15:90765280 [GRCh38]
Chr15:91308510 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2389G>A (p.Ala797Thr) single nucleotide variant Bloom syndrome [RCV002607249]|Hereditary cancer-predisposing syndrome [RCV004070509] Chr15:90769214 [GRCh38]
Chr15:91312444 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3207A>G (p.Thr1069=) single nucleotide variant Bloom syndrome [RCV002607295] Chr15:90794354 [GRCh38]
Chr15:91337584 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2759C>G (p.Ala920Gly) single nucleotide variant Bloom syndrome [RCV002588452]|Hereditary cancer-predisposing syndrome [RCV004949006] Chr15:90785017 [GRCh38]
Chr15:91328247 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2193+5G>C single nucleotide variant Bloom syndrome [RCV002610916] Chr15:90765419 [GRCh38]
Chr15:91308649 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1087+12A>G single nucleotide variant Bloom syndrome [RCV002613366] Chr15:90754950 [GRCh38]
Chr15:91298180 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2620del (p.Val874fs) deletion Bloom syndrome [RCV003050060] Chr15:90782885 [GRCh38]
Chr15:91326115 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2289A>T (p.Leu763=) single nucleotide variant Bloom syndrome [RCV002814714] Chr15:90767005 [GRCh38]
Chr15:91310235 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3388A>T (p.Ile1130Leu) single nucleotide variant Bloom syndrome [RCV002942753] Chr15:90803550 [GRCh38]
Chr15:91346780 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1395T>C (p.Pro465=) single nucleotide variant Bloom syndrome [RCV002582875]|Hereditary cancer-predisposing syndrome [RCV004948712] Chr15:90760768 [GRCh38]
Chr15:91303998 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2955A>C (p.Glu985Asp) single nucleotide variant Bloom syndrome [RCV003050309]|Hereditary cancer-predisposing syndrome [RCV003170949] Chr15:90790780 [GRCh38]
Chr15:91334010 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1542A>C (p.Lys514Asn) single nucleotide variant Bloom syndrome [RCV003068467]|Hereditary cancer-predisposing syndrome [RCV004948953] Chr15:90760915 [GRCh38]
Chr15:91304145 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1644A>G (p.Gln548=) single nucleotide variant Bloom syndrome [RCV003092317]|Hereditary cancer-predisposing syndrome [RCV004073076] Chr15:90761017 [GRCh38]
Chr15:91304247 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg) single nucleotide variant Bloom syndrome [RCV003073178]|Hereditary cancer-predisposing syndrome [RCV004071994] Chr15:90803556 [GRCh38]
Chr15:91346786 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.325C>T (p.Pro109Ser) single nucleotide variant Bloom syndrome [RCV003066216] Chr15:90749593 [GRCh38]
Chr15:91292823 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu) single nucleotide variant Bloom syndrome [RCV003093631]|Hereditary cancer-predisposing syndrome [RCV005310900] Chr15:90803575 [GRCh38]
Chr15:91346805 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2498C>T (p.Ala833Val) single nucleotide variant Bloom syndrome [RCV005100931]|Ovarian cancer [RCV003154768] Chr15:90769529 [GRCh38]
Chr15:91312759 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.3755C>A (p.Ser1252Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278209] Chr15:90809140 [GRCh38]
Chr15:91352370 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2862C>A (p.Asp954Glu) single nucleotide variant Bloom syndrome [RCV005102795]|Hereditary cancer-predisposing syndrome [RCV003278213] Chr15:90790687 [GRCh38]
Chr15:91333917 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1929T>C (p.Arg643=) single nucleotide variant Bloom syndrome [RCV003505330]|Hereditary cancer-predisposing syndrome [RCV003278214] Chr15:90763012 [GRCh38]
Chr15:91306242 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1290_1291delinsATCAGGCCTCCATAG (p.Tyr430_Arg431delinsTer) indel Bloom syndrome [RCV004797571] Chr15:90760663..90760664 [GRCh38]
Chr15:91303893..91303894 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1517C>T (p.Ala506Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003204881] Chr15:90760890 [GRCh38]
Chr15:91304120 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2683T>C (p.Cys895Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165098] Chr15:90784941 [GRCh38]
Chr15:91328171 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2896C>T (p.Leu966Phe) single nucleotide variant Bloom syndrome [RCV005100964]|Hereditary cancer-predisposing syndrome [RCV003165100] Chr15:90790721 [GRCh38]
Chr15:91333951 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.922ATT[1] (p.Ile309del) microsatellite Hereditary cancer-predisposing syndrome [RCV003165101] Chr15:90751909..90751911 [GRCh38]
Chr15:91295139..91295141 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1173G>A (p.Leu391=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003204888] Chr15:90760232 [GRCh38]
Chr15:91303462 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4211C>T (p.Pro1404Leu) single nucleotide variant Bloom syndrome [RCV003614208]|Hereditary cancer-predisposing syndrome [RCV003177336] Chr15:90815236 [GRCh38]
Chr15:91358466 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2909T>G (p.Val970Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177337] Chr15:90790734 [GRCh38]
Chr15:91333964 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3769C>A (p.Pro1257Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177339] Chr15:90809154 [GRCh38]
Chr15:91352384 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1718A>T (p.Asn573Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177342] Chr15:90761091 [GRCh38]
Chr15:91304321 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2927A>G (p.Glu976Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177343] Chr15:90790752 [GRCh38]
Chr15:91333982 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.880G>T (p.Asp294Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177344] Chr15:90751867 [GRCh38]
Chr15:91295097 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1763A>C (p.Lys588Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177345] Chr15:90761136 [GRCh38]
Chr15:91304366 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3336T>C (p.Asn1112=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177348] Chr15:90798315 [GRCh38]
Chr15:91341545 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1076C>T (p.Thr359Ile) single nucleotide variant Bloom syndrome [RCV005101135]|Hereditary cancer-predisposing syndrome [RCV003177349] Chr15:90754927 [GRCh38]
Chr15:91298157 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.802A>G (p.Asn268Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177350] Chr15:90751789 [GRCh38]
Chr15:91295019 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu) single nucleotide variant Bloom syndrome [RCV003505313]|Hereditary cancer-predisposing syndrome [RCV003177351] Chr15:90769194 [GRCh38]
Chr15:91312424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1371C>G (p.His457Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177352] Chr15:90760744 [GRCh38]
Chr15:91303974 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3410A>G (p.Tyr1137Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177353] Chr15:90803572 [GRCh38]
Chr15:91346802 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2965T>G (p.Cys989Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306751] Chr15:90790790 [GRCh38]
Chr15:91334020 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1154C>G (p.Thr385Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306752] Chr15:90760213 [GRCh38]
Chr15:91303443 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2617A>C (p.Lys873Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177311] Chr15:90782883 [GRCh38]
Chr15:91326113 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2243A>G (p.Asn748Ser) single nucleotide variant Bloom syndrome [RCV005101133]|Hereditary cancer-predisposing syndrome [RCV003177312] Chr15:90766959 [GRCh38]
Chr15:91310189 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1865C>T (p.Ser622Leu) single nucleotide variant Bloom syndrome [RCV005101134]|Hereditary cancer-predisposing syndrome [RCV003177313] Chr15:90761238 [GRCh38]
Chr15:91304468 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3538G>C (p.Val1180Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177314] Chr15:90803700 [GRCh38]
Chr15:91346930 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.244A>G (p.Asn82Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177315] Chr15:90749512 [GRCh38]
Chr15:91292742 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1469_1470dup (p.Phe492fs) duplication Hereditary cancer-predisposing syndrome [RCV003177316] Chr15:90760841..90760842 [GRCh38]
Chr15:91304071..91304072 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.799G>A (p.Asp267Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177318] Chr15:90750067 [GRCh38]
Chr15:91293297 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3243G>A (p.Val1081=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177319] Chr15:90798222 [GRCh38]
Chr15:91341452 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2811G>A (p.Gln937=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177320] Chr15:90785069 [GRCh38]
Chr15:91328299 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3192T>C (p.Asp1064=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177321] Chr15:90794339 [GRCh38]
Chr15:91337569 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2684G>A (p.Cys895Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177323] Chr15:90784942 [GRCh38]
Chr15:91328172 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1553C>G (p.Ser518Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177324] Chr15:90760926 [GRCh38]
Chr15:91304156 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3088T>C (p.Cys1030Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177326] Chr15:90794235 [GRCh38]
Chr15:91337465 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1761C>T (p.Ile587=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177327] Chr15:90761134 [GRCh38]
Chr15:91304364 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2391A>G (p.Ala797=) single nucleotide variant Bloom syndrome [RCV003505310]|Hereditary cancer-predisposing syndrome [RCV003177328] Chr15:90769216 [GRCh38]
Chr15:91312446 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2448G>A (p.Met816Ile) single nucleotide variant Bloom syndrome [RCV003505311]|Hereditary cancer-predisposing syndrome [RCV003177329]|not provided [RCV003477065] Chr15:90769479 [GRCh38]
Chr15:91312709 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.378A>G (p.Pro126=) single nucleotide variant Bloom syndrome [RCV003505312]|Hereditary cancer-predisposing syndrome [RCV003177330] Chr15:90749646 [GRCh38]
Chr15:91292876 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.359G>T (p.Cys120Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177354] Chr15:90749627 [GRCh38]
Chr15:91292857 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1502T>C (p.Val501Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172619] Chr15:90760875 [GRCh38]
Chr15:91304105 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1756C>A (p.Pro586Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172620] Chr15:90761129 [GRCh38]
Chr15:91304359 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2606A>G (p.Lys869Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172621] Chr15:90782872 [GRCh38]
Chr15:91326102 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3359-4_3359-3delinsCG indel Hereditary cancer-predisposing syndrome [RCV003172622] Chr15:90803517..90803518 [GRCh38]
Chr15:91346747..91346748 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2485C>T (p.Leu829Phe) single nucleotide variant Bloom syndrome [RCV003614207]|Hereditary cancer-predisposing syndrome [RCV003172623] Chr15:90769516 [GRCh38]
Chr15:91312746 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.193G>C (p.Val65Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172624] Chr15:90749461 [GRCh38]
Chr15:91292691 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.99-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172625] Chr15:90749366 [GRCh38]
Chr15:91292596 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.323T>C (p.Leu108Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003172626] Chr15:90749591 [GRCh38]
Chr15:91292821 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val) single nucleotide variant Bloom syndrome [RCV003505303]|Hereditary cancer-predisposing syndrome [RCV003176332] Chr15:90798229 [GRCh38]
Chr15:91341459 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.2(BLM):c.-4-4929_82del deletion Hereditary cancer-predisposing syndrome [RCV003177347] Chr15:91285685..91290699 [GRCh37]
Chr15:15q26.1		 likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
NM_000057.4(BLM):c.777A>G (p.Lys259=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165095] Chr15:90750045 [GRCh38]
Chr15:91293275 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2584C>A (p.Leu862Met) single nucleotide variant Bloom syndrome [RCV003143796] Chr15:90782850 [GRCh38]
Chr15:91326080 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3406G>T (p.Ala1136Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165097] Chr15:90803568 [GRCh38]
Chr15:91346798 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+5G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300848] Chr15:90811411 [GRCh38]
Chr15:91354641 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2746C>T (p.Leu916Phe) single nucleotide variant Bloom syndrome [RCV005102666]|Hereditary cancer-predisposing syndrome [RCV003300849] Chr15:90785004 [GRCh38]
Chr15:91328234 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4209G>T (p.Lys1403Asn) single nucleotide variant Bloom syndrome [RCV005102667]|Hereditary cancer-predisposing syndrome [RCV003300850] Chr15:90815234 [GRCh38]
Chr15:91358464 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3467A>G (p.Asp1156Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003204827] Chr15:90803629 [GRCh38]
Chr15:91346859 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2320A>G (p.Asn774Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003204834] Chr15:90769145 [GRCh38]
Chr15:91312375 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1729A>G (p.Ser577Gly) single nucleotide variant Bloom syndrome [RCV005061087]|Hereditary cancer-predisposing syndrome [RCV003204973] Chr15:90761102 [GRCh38]
Chr15:91304332 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1050G>A (p.Met350Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165099] Chr15:90754901 [GRCh38]
Chr15:91298131 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3055C>T (p.His1019Tyr) single nucleotide variant Bloom syndrome [RCV005101132]|Hereditary cancer-predisposing syndrome [RCV003177307] Chr15:90794202 [GRCh38]
Chr15:91337432 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4115A>G (p.Lys1372Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177308] Chr15:90815140 [GRCh38]
Chr15:91358370 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3445_3450delinsT (p.Leu1149fs) indel Hereditary cancer-predisposing syndrome [RCV003177309] Chr15:90803607..90803612 [GRCh38]
Chr15:91346837..91346842 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2925A>T (p.Gln975His) single nucleotide variant Bloom syndrome [RCV003505314]|Hereditary cancer-predisposing syndrome [RCV003214604] Chr15:90790750 [GRCh38]
Chr15:91333980 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.652A>G (p.Ile218Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177322] Chr15:90749920 [GRCh38]
Chr15:91293150 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3789T>C (p.Ile1263=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177340] Chr15:90809174 [GRCh38]
Chr15:91352404 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1725A>C (p.Ala575=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177341] Chr15:90761098 [GRCh38]
Chr15:91304328 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro) single nucleotide variant Bloom syndrome [RCV003505335]|not provided [RCV003323128] Chr15:90785001 [GRCh38]
Chr15:91328231 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1087G>C (p.Ala363Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310391] Chr15:90754938 [GRCh38]
Chr15:91298168 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3872C>A (p.Pro1291Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310392] Chr15:90809257 [GRCh38]
Chr15:91352487 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1568A>G (p.Asn523Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310393] Chr15:90760941 [GRCh38]
Chr15:91304171 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310395] Chr15:90747389 [GRCh38]
Chr15:91290619 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.673_675del (p.Lys225del) deletion Bloom syndrome [RCV005102692]|Hereditary cancer-predisposing syndrome [RCV003310398] Chr15:90749939..90749941 [GRCh38]
Chr15:91293169..91293171 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1086C>G (p.Asp362Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306744] Chr15:90754937 [GRCh38]
Chr15:91298167 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3199_3202dup (p.Lys1068delinsMetTer) duplication Hereditary cancer-predisposing syndrome [RCV003306745] Chr15:90794345..90794346 [GRCh38]
Chr15:91337575..91337576 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1255dup (p.Ser419fs) duplication Hereditary cancer-predisposing syndrome [RCV003306746] Chr15:90760624..90760625 [GRCh38]
Chr15:91303854..91303855 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1055A>G (p.Glu352Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306747] Chr15:90754906 [GRCh38]
Chr15:91298136 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2619G>T (p.Lys873Asn) single nucleotide variant Bloom syndrome [RCV005102793]|Hereditary cancer-predisposing syndrome [RCV003306749] Chr15:90782885 [GRCh38]
Chr15:91326115 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2618A>G (p.Lys873Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306750] Chr15:90782884 [GRCh38]
Chr15:91326114 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3177del (p.Asp1060fs) deletion Hereditary cancer-predisposing syndrome [RCV003306753] Chr15:90794324 [GRCh38]
Chr15:91337554 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3601C>A (p.Gln1201Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306755] Chr15:90804209 [GRCh38]
Chr15:91347439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2284C>A (p.Leu762Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306756] Chr15:90767000 [GRCh38]
Chr15:91310230 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3175C>G (p.Pro1059Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306757] Chr15:90794322 [GRCh38]
Chr15:91337552 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn) single nucleotide variant Bloom syndrome [RCV003505328]|Hereditary cancer-predisposing syndrome [RCV003306758] Chr15:90794318 [GRCh38]
Chr15:91337548 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1531C>G (p.Leu511Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306759] Chr15:90760904 [GRCh38]
Chr15:91304134 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.2:c.959+2_959+3insALU insertion Hereditary cancer-predisposing syndrome [RCV003306761]   uncertain significance
NM_000057.4(BLM):c.3273T>G (p.His1091Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306762] Chr15:90798252 [GRCh38]
Chr15:91341482 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.2:c.741_742insALU insertion Hereditary cancer-predisposing syndrome [RCV003306763]   likely pathogenic
NM_000057.4(BLM):c.3612A>T (p.Leu1204Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306764] Chr15:90804220 [GRCh38]
Chr15:91347450 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2393A>C (p.His798Pro) single nucleotide variant not provided [RCV003319786] Chr15:90769218 [GRCh38]
Chr15:91312448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2522T>A (p.Ile841Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341934] Chr15:90769553 [GRCh38]
Chr15:91312783 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3090T>A (p.Cys1030Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341917] Chr15:90794237 [GRCh38]
Chr15:91337467 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1315A>T (p.Met439Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341936] Chr15:90760688 [GRCh38]
Chr15:91303918 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1328C>T (p.Ser443Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385837] Chr15:90760701 [GRCh38]
Chr15:91303931 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3796G>A (p.Val1266Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363925] Chr15:90809181 [GRCh38]
Chr15:91352411 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1233A>G (p.Leu411=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378044] Chr15:90760606 [GRCh38]
Chr15:91303836 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.764G>A (p.Ser255Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396391] Chr15:90750032 [GRCh38]
Chr15:91293262 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.568A>C (p.Lys190Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347459] Chr15:90749836 [GRCh38]
Chr15:91293066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1872G>A (p.Gln624=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415129] Chr15:90761245 [GRCh38]
Chr15:91304475 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1507A>G (p.Ser503Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390024] Chr15:90760880 [GRCh38]
Chr15:91304110 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys) single nucleotide variant Bloom syndrome [RCV003101051]|Hereditary cancer-predisposing syndrome [RCV002424106] Chr15:90765317 [GRCh38]
Chr15:91308547 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.88C>A (p.Pro30Thr) single nucleotide variant Bloom syndrome [RCV005097289]|Hereditary cancer-predisposing syndrome [RCV002376046] Chr15:90747480 [GRCh38]
Chr15:91290710 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3220_3221insG (p.Thr1074fs) insertion Hereditary cancer-predisposing syndrome [RCV002324685] Chr15:90798199..90798200 [GRCh38]
Chr15:91341429..91341430 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4014G>C (p.Lys1338Asn) single nucleotide variant Bloom syndrome [RCV002843292] Chr15:90811344 [GRCh38]
Chr15:91354574 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3643G>T (p.Val1215Phe) single nucleotide variant Bloom syndrome [RCV002591437]|Hereditary cancer-predisposing syndrome [RCV003349037] Chr15:90804251 [GRCh38]
Chr15:91347481 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3611T>C (p.Leu1204Ser) single nucleotide variant Bloom syndrome [RCV003040366] Chr15:90804219 [GRCh38]
Chr15:91347449 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1095G>A (p.Gln365=) single nucleotide variant Bloom syndrome [RCV002578001]|Hereditary cancer-predisposing syndrome [RCV005301157] Chr15:90760154 [GRCh38]
Chr15:91303384 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr) single nucleotide variant Bloom syndrome [RCV003093269]|Hereditary cancer-predisposing syndrome [RCV003161734] Chr15:90809242 [GRCh38]
Chr15:91352472 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.400A>G (p.Thr134Ala) single nucleotide variant Ovarian cancer [RCV003154750] Chr15:90749668 [GRCh38]
Chr15:91292898 [GRCh37]
Chr15:15q26.1		 benign
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_000057.4(BLM):c.2730A>G (p.Arg910=) single nucleotide variant Bloom syndrome [RCV003505309]|Hereditary cancer-predisposing syndrome [RCV003177325] Chr15:90784988 [GRCh38]
Chr15:91328218 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406G>A (p.Gln802=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177331] Chr15:90769231 [GRCh38]
Chr15:91312461 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1965G>T (p.Met655Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177332] Chr15:90763048 [GRCh38]
Chr15:91306278 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1433G>A (p.Gly478Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177333] Chr15:90760806 [GRCh38]
Chr15:91304036 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3313C>T (p.Pro1105Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177334]|not provided [RCV003225268] Chr15:90798292 [GRCh38]
Chr15:91341522 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.813GAA[1] (p.Lys272_Lys273del) microsatellite Hereditary cancer-predisposing syndrome [RCV003177335] Chr15:90751798..90751803 [GRCh38]
Chr15:91295028..91295033 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2693G>A (p.Arg898Lys) single nucleotide variant not specified [RCV004799997] Chr15:90784951 [GRCh38]
Chr15:91328181 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_000057.4(BLM):c.29A>G (p.Gln10Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003356975] Chr15:90747421 [GRCh38]
Chr15:91290651 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1681T>A (p.Phe561Ile) single nucleotide variant BLM-related disorder [RCV003410362]|Bloom syndrome [RCV005104126]|Hereditary cancer-predisposing syndrome [RCV003356915] Chr15:90761054 [GRCh38]
Chr15:91304284 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.570G>C (p.Lys190Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341938] Chr15:90749838 [GRCh38]
Chr15:91293068 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2443A>C (p.Asn815His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341911] Chr15:90769474 [GRCh38]
Chr15:91312704 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1594G>T (p.Asp532Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341927] Chr15:90760967 [GRCh38]
Chr15:91304197 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.995A>C (p.Glu332Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341928] Chr15:90754846 [GRCh38]
Chr15:91298076 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2915G>A (p.Gly972Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341931] Chr15:90790740 [GRCh38]
Chr15:91333970 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.384A>C (p.Val128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341925] Chr15:90749652 [GRCh38]
Chr15:91292882 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4243G>A (p.Ala1415Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341926] Chr15:90815268 [GRCh38]
Chr15:91358498 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2630_2633del (p.Asp877fs) deletion Hereditary cancer-predisposing syndrome [RCV003341932] Chr15:90782893..90782896 [GRCh38]
Chr15:91326123..91326126 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.704T>C (p.Val235Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341946] Chr15:90749972 [GRCh38]
Chr15:91293202 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2667T>C (p.Asp889=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341916] Chr15:90784925 [GRCh38]
Chr15:91328155 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3268G>A (p.Glu1090Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341920] Chr15:90798247 [GRCh38]
Chr15:91341477 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter) single nucleotide variant Bloom syndrome [RCV003614225]|Hereditary cancer-predisposing syndrome [RCV003341921] Chr15:90761205 [GRCh38]
Chr15:91304435 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3844T>G (p.Leu1282Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341922] Chr15:90809229 [GRCh38]
Chr15:91352459 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3100A>G (p.Thr1034Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341914] Chr15:90794247 [GRCh38]
Chr15:91337477 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4207A>T (p.Lys1403Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341919] Chr15:90815232 [GRCh38]
Chr15:91358462 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2535G>A (p.Leu845=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341942] Chr15:90769566 [GRCh38]
Chr15:91312796 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.20A>G (p.Asn7Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341941] Chr15:90747412 [GRCh38]
Chr15:91290642 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2878T>A (p.Phe960Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341943] Chr15:90790703 [GRCh38]
Chr15:91333933 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.341C>T (p.Thr114Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341908]|not provided [RCV004999924] Chr15:90749609 [GRCh38]
Chr15:91292839 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1334C>G (p.Pro445Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341913] Chr15:90760707 [GRCh38]
Chr15:91303937 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1647T>C (p.Pro549=) single nucleotide variant Bloom syndrome [RCV003614224]|Hereditary cancer-predisposing syndrome [RCV003341918] Chr15:90761020 [GRCh38]
Chr15:91304250 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4161A>C (p.Gln1387His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341912] Chr15:90815186 [GRCh38]
Chr15:91358416 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.481G>C (p.Asp161His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341915] Chr15:90749749 [GRCh38]
Chr15:91292979 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1295C>T (p.Pro432Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341909] Chr15:90760668 [GRCh38]
Chr15:91303898 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2516A>C (p.Lys839Thr) single nucleotide variant Bloom syndrome [RCV003614223]|Hereditary cancer-predisposing syndrome [RCV003341910] Chr15:90769547 [GRCh38]
Chr15:91312777 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4097A>G (p.Lys1366Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341923] Chr15:90815122 [GRCh38]
Chr15:91358352 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3536C>G (p.Thr1179Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341930] Chr15:90803698 [GRCh38]
Chr15:91346928 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1689T>C (p.Asp563=) single nucleotide variant Bloom syndrome [RCV003777479]|Hereditary cancer-predisposing syndrome [RCV003341924] Chr15:90761062 [GRCh38]
Chr15:91304292 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1255A>T (p.Ser419Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341929] Chr15:90760628 [GRCh38]
Chr15:91303858 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1040A>C (p.Lys347Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341935] Chr15:90754891 [GRCh38]
Chr15:91298121 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3505G>T (p.Ala1169Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358433] Chr15:90803667 [GRCh38]
Chr15:91346897 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.517C>T (p.Pro173Ser) single nucleotide variant Bloom syndrome [RCV003505341]|Hereditary cancer-predisposing syndrome [RCV003354805] Chr15:90749785 [GRCh38]
Chr15:91293015 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2400C>T (p.Val800=) single nucleotide variant Bloom syndrome [RCV003505340]|Hereditary cancer-predisposing syndrome [RCV003354689] Chr15:90769225 [GRCh38]
Chr15:91312455 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2623G>A (p.Ala875Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003366611] Chr15:90782889 [GRCh38]
Chr15:91326119 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4090T>G (p.Cys1364Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377583]|not provided [RCV005412548] Chr15:90815115 [GRCh38]
Chr15:91358345 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2074+13A>G single nucleotide variant Bloom syndrome [RCV003505436] Chr15:90763170 [GRCh38]
Chr15:91306400 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3211-14_3211-13del microsatellite Bloom syndrome [RCV003505735] Chr15:90798173..90798174 [GRCh38]
Chr15:91341403..91341404 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3188G>T (p.Cys1063Phe) single nucleotide variant Bloom syndrome [RCV003504892] Chr15:90794335 [GRCh38]
Chr15:91337565 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3559-16T>C single nucleotide variant Bloom syndrome [RCV003505478] Chr15:90804151 [GRCh38]
Chr15:91347381 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1825C>T (p.Pro609Ser) single nucleotide variant Bloom syndrome [RCV003505484] Chr15:90761198 [GRCh38]
Chr15:91304428 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.907C>T (p.Pro303Ser) single nucleotide variant Bloom syndrome [RCV003506323]|Hereditary cancer-predisposing syndrome [RCV004950423] Chr15:90751894 [GRCh38]
Chr15:91295124 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3559-11C>G single nucleotide variant Bloom syndrome [RCV003880096] Chr15:90804156 [GRCh38]
Chr15:91347386 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1041A>G (p.Lys347=) single nucleotide variant Bloom syndrome [RCV003505489] Chr15:90754892 [GRCh38]
Chr15:91298122 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs) deletion Bloom syndrome [RCV003505499] Chr15:90769148..90769149 [GRCh38]
Chr15:91312378..91312379 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2516del (p.Lys839fs) deletion Bloom syndrome [RCV003474373] Chr15:90769546 [GRCh38]
Chr15:91312776 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs) indel Bloom syndrome [RCV003474378] Chr15:90782920..90782926 [GRCh38]
Chr15:91326150..91326156 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1087+1G>T single nucleotide variant Bloom syndrome [RCV003474371] Chr15:90754939 [GRCh38]
Chr15:91298169 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3899G>C (p.Ser1300Thr) single nucleotide variant Bloom syndrome [RCV003505773] Chr15:90811229 [GRCh38]
Chr15:91354459 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2307+1G>A single nucleotide variant Bloom syndrome [RCV003505777] Chr15:90767024 [GRCh38]
Chr15:91310254 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2492C>T (p.Ala831Val) single nucleotide variant Bloom syndrome [RCV003506133] Chr15:90769523 [GRCh38]
Chr15:91312753 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+15A>G single nucleotide variant Bloom syndrome [RCV003873369] Chr15:90804374 [GRCh38]
Chr15:91347604 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3049G>C (p.Glu1017Gln) single nucleotide variant Bloom syndrome [RCV003505509] Chr15:90794196 [GRCh38]
Chr15:91337426 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3020-4T>G single nucleotide variant Bloom syndrome [RCV003505520] Chr15:90794163 [GRCh38]
Chr15:91337393 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3574A>C (p.Thr1192Pro) single nucleotide variant Bloom syndrome [RCV003505799] Chr15:90804182 [GRCh38]
Chr15:91347412 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3559-18T>C single nucleotide variant Bloom syndrome [RCV003505804] Chr15:90804149 [GRCh38]
Chr15:91347379 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3412T>G (p.Ser1138Ala) single nucleotide variant Bloom syndrome [RCV003505809] Chr15:90803574 [GRCh38]
Chr15:91346804 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.*6G>T single nucleotide variant BLM-related disorder [RCV003929203]|not provided [RCV003477435] Chr15:90815285 [GRCh38]
Chr15:91358515 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1341G>T (p.Gly447=) single nucleotide variant Bloom syndrome [RCV003873488] Chr15:90760714 [GRCh38]
Chr15:91303944 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2199A>G (p.Pro733=) single nucleotide variant Bloom syndrome [RCV003504722] Chr15:90766915 [GRCh38]
Chr15:91310145 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+17C>G single nucleotide variant Bloom syndrome [RCV003504830] Chr15:90811423 [GRCh38]
Chr15:91354653 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.588A>G (p.Ala196=) single nucleotide variant Bloom syndrome [RCV003505533] Chr15:90749856 [GRCh38]
Chr15:91293086 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824G>C (p.Val942Leu) single nucleotide variant Bloom syndrome [RCV003505534] Chr15:90790649 [GRCh38]
Chr15:91333879 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3744G>C (p.Lys1248Asn) single nucleotide variant Bloom syndrome [RCV003505821] Chr15:90804352 [GRCh38]
Chr15:91347582 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2074+5_2074+8del microsatellite Bloom syndrome [RCV003505852] Chr15:90763158..90763161 [GRCh38]
Chr15:91306388..91306391 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1882+15A>G single nucleotide variant Bloom syndrome [RCV003505853] Chr15:90761270 [GRCh38]
Chr15:91304500 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2520C>T (p.Asp840=) single nucleotide variant Bloom syndrome [RCV003505857] Chr15:90769551 [GRCh38]
Chr15:91312781 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1734A>T (p.Lys578Asn) single nucleotide variant Bloom syndrome [RCV003505862] Chr15:90761107 [GRCh38]
Chr15:91304337 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+17C>T single nucleotide variant Bloom syndrome [RCV003505865] Chr15:90769603 [GRCh38]
Chr15:91312833 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs) insertion Bloom syndrome [RCV003506113] Chr15:90790690..90790691 [GRCh38]
Chr15:91333920..91333921 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1488A>G (p.Leu496=) single nucleotide variant Bloom syndrome [RCV003504939] Chr15:90760861 [GRCh38]
Chr15:91304091 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1744G>C (p.Ala582Pro) single nucleotide variant Bloom syndrome [RCV003504965] Chr15:90761117 [GRCh38]
Chr15:91304347 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2301A>C (p.Pro767=) single nucleotide variant Bloom syndrome [RCV003505547] Chr15:90767017 [GRCh38]
Chr15:91310247 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4251A>T (p.Ser1417=) single nucleotide variant Bloom syndrome [RCV003505552] Chr15:90815276 [GRCh38]
Chr15:91358506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1765del (p.Glu589fs) deletion Bloom syndrome [RCV003505557] Chr15:90761137 [GRCh38]
Chr15:91304367 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1416C>A (p.Thr472=) single nucleotide variant Bloom syndrome [RCV003505570] Chr15:90760789 [GRCh38]
Chr15:91304019 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.406C>T (p.Leu136Phe) single nucleotide variant Bloom syndrome [RCV003505838] Chr15:90749674 [GRCh38]
Chr15:91292904 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2308-12T>C single nucleotide variant Bloom syndrome [RCV003505874] Chr15:90769121 [GRCh38]
Chr15:91312351 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2832T>C (p.Cys944=) single nucleotide variant Bloom syndrome [RCV003505876] Chr15:90790657 [GRCh38]
Chr15:91333887 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3525T>C (p.Asn1175=) single nucleotide variant Bloom syndrome [RCV003505006] Chr15:90803687 [GRCh38]
Chr15:91346917 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1225A>G (p.Lys409Glu) single nucleotide variant Bloom syndrome [RCV003505008] Chr15:90760598 [GRCh38]
Chr15:91303828 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs) insertion Bloom syndrome [RCV003504597] Chr15:90794318..90794319 [GRCh38]
Chr15:91337548..91337549 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1590G>A (p.Val530=) single nucleotide variant Bloom syndrome [RCV003504718] Chr15:90760963 [GRCh38]
Chr15:91304193 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-15del deletion Bloom syndrome [RCV003505582] Chr15:90809119 [GRCh38]
Chr15:91352349 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2076A>G (p.Gly692=) single nucleotide variant Bloom syndrome [RCV003505887] Chr15:90765297 [GRCh38]
Chr15:91308527 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2782G>T (p.Asp928Tyr) single nucleotide variant Bloom syndrome [RCV003505896] Chr15:90785040 [GRCh38]
Chr15:91328270 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1348A>C (p.Met450Leu) single nucleotide variant Bloom syndrome [RCV003506156] Chr15:90760721 [GRCh38]
Chr15:91303951 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+12T>C single nucleotide variant Bloom syndrome [RCV003506158] Chr15:90750079 [GRCh38]
Chr15:91293309 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2239A>G (p.Thr747Ala) single nucleotide variant Bloom syndrome [RCV003504594] Chr15:90766955 [GRCh38]
Chr15:91310185 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.800-13T>A single nucleotide variant Bloom syndrome [RCV003505023] Chr15:90751774 [GRCh38]
Chr15:91295004 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2407-8C>T single nucleotide variant Bloom syndrome [RCV003504657] Chr15:90769430 [GRCh38]
Chr15:91312660 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.98_98+1del deletion Bloom syndrome [RCV003504654] Chr15:90747490..90747491 [GRCh38]
Chr15:91290720..91290721 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.230dup (p.Pro78fs) duplication Bloom syndrome [RCV003504924]|Hereditary cancer-predisposing syndrome [RCV004950462] Chr15:90749497..90749498 [GRCh38]
Chr15:91292727..91292728 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1220+11T>A single nucleotide variant Bloom syndrome [RCV003505607] Chr15:90760290 [GRCh38]
Chr15:91303520 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2472T>A (p.Val824=) single nucleotide variant Bloom syndrome [RCV003505613] Chr15:90769503 [GRCh38]
Chr15:91312733 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3087C>T (p.Tyr1029=) single nucleotide variant Bloom syndrome [RCV003505615] Chr15:90794234 [GRCh38]
Chr15:91337464 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-7T>G single nucleotide variant Bloom syndrome [RCV003505918] Chr15:90760587 [GRCh38]
Chr15:91303817 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.527A>C (p.His176Pro) single nucleotide variant Bloom syndrome [RCV003506102] Chr15:90749795 [GRCh38]
Chr15:91293025 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2881G>A (p.Val961Met) single nucleotide variant Bloom syndrome [RCV003504668] Chr15:90790706 [GRCh38]
Chr15:91333936 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2966G>T (p.Cys989Phe) single nucleotide variant Bloom syndrome [RCV003504685] Chr15:90790791 [GRCh38]
Chr15:91334021 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.435A>G (p.Pro145=) single nucleotide variant Bloom syndrome [RCV003504732] Chr15:90749703 [GRCh38]
Chr15:91292933 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1883-10A>G single nucleotide variant Bloom syndrome [RCV003505052] Chr15:90762956 [GRCh38]
Chr15:91306186 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1204dup (p.Gln402fs) duplication Bloom syndrome [RCV003505065] Chr15:90760262..90760263 [GRCh38]
Chr15:91303492..91303493 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1358T>C (p.Leu453Ser) single nucleotide variant Bloom syndrome [RCV003505070] Chr15:90760731 [GRCh38]
Chr15:91303961 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1269T>C (p.Leu423=) single nucleotide variant Bloom syndrome [RCV003505017]|Hereditary cancer-predisposing syndrome [RCV004369447] Chr15:90760642 [GRCh38]
Chr15:91303872 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3404C>A (p.Ser1135Tyr) single nucleotide variant Bloom syndrome [RCV003505031] Chr15:90803566 [GRCh38]
Chr15:91346796 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.600A>G (p.Thr200=) single nucleotide variant Bloom syndrome [RCV003505057]|Hereditary cancer-predisposing syndrome [RCV004950476] Chr15:90749868 [GRCh38]
Chr15:91293098 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-16T>G single nucleotide variant Bloom syndrome [RCV003505640] Chr15:90794151 [GRCh38]
Chr15:91337381 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+7dup duplication Bloom syndrome [RCV003505926] Chr15:90804365..90804366 [GRCh38]
Chr15:91347595..91347596 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3928A>C (p.Ser1310Arg) single nucleotide variant Bloom syndrome [RCV003505933] Chr15:90811258 [GRCh38]
Chr15:91354488 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1370A>C (p.His457Pro) single nucleotide variant Bloom syndrome [RCV003505941] Chr15:90760743 [GRCh38]
Chr15:91303973 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3584C>G (p.Ser1195Cys) single nucleotide variant Bloom syndrome [RCV003505945] Chr15:90804192 [GRCh38]
Chr15:91347422 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+17C>T single nucleotide variant Bloom syndrome [RCV003506200] Chr15:90750084 [GRCh38]
Chr15:91293314 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1329C>T (p.Ser443=) single nucleotide variant Bloom syndrome [RCV003504748] Chr15:90760702 [GRCh38]
Chr15:91303932 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3519C>A (p.Leu1173=) single nucleotide variant Bloom syndrome [RCV003504764] Chr15:90803681 [GRCh38]
Chr15:91346911 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-11G>A single nucleotide variant Bloom syndrome [RCV003504765] Chr15:90782811 [GRCh38]
Chr15:91326041 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3586A>C (p.Ser1196Arg) single nucleotide variant Bloom syndrome [RCV003504772] Chr15:90804194 [GRCh38]
Chr15:91347424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3555A>G (p.Leu1185=) single nucleotide variant Bloom syndrome [RCV003504794] Chr15:90803717 [GRCh38]
Chr15:91346947 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+14C>T single nucleotide variant Bloom syndrome [RCV003504699] Chr15:90790858 [GRCh38]
Chr15:91334088 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1476C>G (p.Phe492Leu) single nucleotide variant Bloom syndrome [RCV003505950] Chr15:90760849 [GRCh38]
Chr15:91304079 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2957del (p.Ile986fs) deletion Bloom syndrome [RCV003505957] Chr15:90790782 [GRCh38]
Chr15:91334012 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3601_3603del (p.Gln1201del) deletion Bloom syndrome [RCV003506236] Chr15:90804207..90804209 [GRCh38]
Chr15:91347437..91347439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.874G>C (p.Asp292His) single nucleotide variant Bloom syndrome [RCV003504811] Chr15:90751861 [GRCh38]
Chr15:91295091 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2662+11C>G single nucleotide variant Bloom syndrome [RCV003504651] Chr15:90782939 [GRCh38]
Chr15:91326169 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.332T>C (p.Phe111Ser) single nucleotide variant Bloom syndrome [RCV003504716] Chr15:90749600 [GRCh38]
Chr15:91292830 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+2_98+3insCT insertion Bloom syndrome [RCV003504846] Chr15:90747491..90747492 [GRCh38]
Chr15:91290721..91290722 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys) single nucleotide variant Bloom syndrome [RCV003505590]|Hereditary cancer-predisposing syndrome [RCV004604984] Chr15:90760821 [GRCh38]
Chr15:91304051 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3019+12T>G single nucleotide variant Bloom syndrome [RCV003505664] Chr15:90790856 [GRCh38]
Chr15:91334086 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1449G>C (p.Arg483Ser) single nucleotide variant Bloom syndrome [RCV003505976] Chr15:90760822 [GRCh38]
Chr15:91304052 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3752-5C>A single nucleotide variant Bloom syndrome [RCV003505981] Chr15:90809132 [GRCh38]
Chr15:91352362 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+4T>A single nucleotide variant Bloom syndrome [RCV003505983] Chr15:90811410 [GRCh38]
Chr15:91354640 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3874+20T>A single nucleotide variant Bloom syndrome [RCV003506259] Chr15:90809279 [GRCh38]
Chr15:91352509 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-15A>C single nucleotide variant Bloom syndrome [RCV003506262] Chr15:90765281 [GRCh38]
Chr15:91308511 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+11del deletion Bloom syndrome [RCV003504874] Chr15:90809270 [GRCh38]
Chr15:91352500 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-7T>C single nucleotide variant Bloom syndrome [RCV003504890] Chr15:90782815 [GRCh38]
Chr15:91326045 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1674A>C (p.Ile558=) single nucleotide variant Bloom syndrome [RCV003504913] Chr15:90761047 [GRCh38]
Chr15:91304277 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val) indel Bloom syndrome [RCV003506003] Chr15:90747452..90747453 [GRCh38]
Chr15:91290682..91290683 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2307G>A (p.Lys769=) single nucleotide variant Bloom syndrome [RCV003506004] Chr15:90767023 [GRCh38]
Chr15:91310253 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2900C>G (p.Pro967Arg) single nucleotide variant Bloom syndrome [RCV003504703] Chr15:90790725 [GRCh38]
Chr15:91333955 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3019+20A>G single nucleotide variant Bloom syndrome [RCV003504726] Chr15:90790864 [GRCh38]
Chr15:91334094 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs) duplication Bloom syndrome [RCV003504727] Chr15:90794171..90794172 [GRCh38]
Chr15:91337401..91337402 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.982del (p.Ser328fs) deletion Bloom syndrome [RCV003504763] Chr15:90754833 [GRCh38]
Chr15:91298063 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4002G>A (p.Arg1334=) single nucleotide variant Bloom syndrome [RCV003504779] Chr15:90811332 [GRCh38]
Chr15:91354562 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3810A>G (p.Lys1270=) single nucleotide variant Bloom syndrome [RCV003504925]|Hereditary cancer-predisposing syndrome [RCV004950463] Chr15:90809195 [GRCh38]
Chr15:91352425 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter) single nucleotide variant Bloom syndrome [RCV003504948] Chr15:90784922 [GRCh38]
Chr15:91328152 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4027C>G (p.Gln1343Glu) single nucleotide variant Bloom syndrome [RCV003504960] Chr15:90811357 [GRCh38]
Chr15:91354587 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1253A>T (p.Lys418Ile) single nucleotide variant Bloom syndrome [RCV003505356] Chr15:90760626 [GRCh38]
Chr15:91303856 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2307+16A>G single nucleotide variant Bloom syndrome [RCV003505408] Chr15:90767039 [GRCh38]
Chr15:91310269 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.99-20G>C single nucleotide variant Bloom syndrome [RCV003505427] Chr15:90749347 [GRCh38]
Chr15:91292577 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.624G>A (p.Leu208=) single nucleotide variant Bloom syndrome [RCV003505672] Chr15:90749892 [GRCh38]
Chr15:91293122 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1079A>G (p.Asp360Gly) single nucleotide variant Bloom syndrome [RCV003505682] Chr15:90754930 [GRCh38]
Chr15:91298160 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3174C>T (p.His1058=) single nucleotide variant Bloom syndrome [RCV003506289] Chr15:90794321 [GRCh38]
Chr15:91337551 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3622G>A (p.Val1208Met) single nucleotide variant Bloom syndrome [RCV003504842] Chr15:90804230 [GRCh38]
Chr15:91347460 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2300C>T (p.Pro767Leu) single nucleotide variant Bloom syndrome [RCV003504854] Chr15:90767016 [GRCh38]
Chr15:91310246 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3299T>C (p.Ile1100Thr) single nucleotide variant Bloom syndrome [RCV003505367]|Hereditary cancer-predisposing syndrome [RCV005301305] Chr15:90798278 [GRCh38]
Chr15:91341508 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.734A>T (p.Glu245Val) single nucleotide variant Bloom syndrome [RCV003505368] Chr15:90750002 [GRCh38]
Chr15:91293232 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2548C>T (p.Pro850Ser) single nucleotide variant Bloom syndrome [RCV003505380] Chr15:90769579 [GRCh38]
Chr15:91312809 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2823+19A>T single nucleotide variant Bloom syndrome [RCV003505386] Chr15:90785100 [GRCh38]
Chr15:91328330 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+10G>T single nucleotide variant Bloom syndrome [RCV003505483] Chr15:90790854 [GRCh38]
Chr15:91334084 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3147A>G (p.Gly1049=) single nucleotide variant Bloom syndrome [RCV003505538] Chr15:90794294 [GRCh38]
Chr15:91337524 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+13A>G single nucleotide variant Bloom syndrome [RCV003505539] Chr15:90769599 [GRCh38]
Chr15:91312829 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1329C>A (p.Ser443=) single nucleotide variant Bloom syndrome [RCV003505706] Chr15:90760702 [GRCh38]
Chr15:91303932 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2942G>C (p.Gly981Ala) single nucleotide variant Bloom syndrome [RCV003506033] Chr15:90790767 [GRCh38]
Chr15:91333997 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2278A>T (p.Ile760Leu) single nucleotide variant Bloom syndrome [RCV003506044] Chr15:90766994 [GRCh38]
Chr15:91310224 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1287A>C (p.Arg429Ser) single nucleotide variant Bloom syndrome [RCV003506302]|Hereditary cancer-predisposing syndrome [RCV005311002] Chr15:90760660 [GRCh38]
Chr15:91303890 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4235C>T (p.Pro1412Leu) single nucleotide variant Bloom syndrome [RCV003505402] Chr15:90815260 [GRCh38]
Chr15:91358490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2075-8T>C single nucleotide variant Bloom syndrome [RCV003505404] Chr15:90765288 [GRCh38]
Chr15:91308518 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.762A>G (p.Glu254=) single nucleotide variant Bloom syndrome [RCV003505720] Chr15:90750030 [GRCh38]
Chr15:91293260 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1987T>A (p.Phe663Ile) single nucleotide variant Bloom syndrome [RCV003506070] Chr15:90763070 [GRCh38]
Chr15:91306300 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.959+2T>C single nucleotide variant Bloom syndrome [RCV003474355] Chr15:90751948 [GRCh38]
Chr15:91295178 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) single nucleotide variant Bloom syndrome [RCV003474363]|not specified [RCV003479527] Chr15:90769553 [GRCh38]
Chr15:91312783 [GRCh37]
Chr15:15q26.1		 likely pathogenic|uncertain significance
NM_000057.4(BLM):c.3358+1G>T single nucleotide variant Bloom syndrome [RCV003474369] Chr15:90798338 [GRCh38]
Chr15:91341568 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3265del (p.Gln1089fs) deletion Bloom syndrome [RCV003474385] Chr15:90798244 [GRCh38]
Chr15:91341474 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.959_959+16del deletion Bloom syndrome [RCV003505426] Chr15:90751944..90751960 [GRCh38]
Chr15:91295174..91295190 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.804_805del (p.Asn268fs) deletion Bloom syndrome [RCV003474358] Chr15:90751790..90751791 [GRCh38]
Chr15:91295020..91295021 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter) single nucleotide variant Bloom syndrome [RCV003474381] Chr15:90811305 [GRCh38]
Chr15:91354535 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.*5C>T single nucleotide variant not provided [RCV003477434] Chr15:90815284 [GRCh38]
Chr15:91358514 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.75_78del (p.Leu25fs) deletion Bloom syndrome [RCV003474356] Chr15:90747466..90747469 [GRCh38]
Chr15:91290696..91290699 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer) deletion Bloom syndrome [RCV003474360] Chr15:90765364 [GRCh38]
Chr15:91308594 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.8_9dup (p.Val4fs) duplication Bloom syndrome [RCV003474376] Chr15:90747399..90747400 [GRCh38]
Chr15:91290629..91290630 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2407-2A>G single nucleotide variant Bloom syndrome [RCV003474357]|Hereditary cancer-predisposing syndrome [RCV004949104] Chr15:90769436 [GRCh38]
Chr15:91312666 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3359-2A>G single nucleotide variant Bloom syndrome [RCV003474359]|Hereditary cancer-predisposing syndrome [RCV004364805] Chr15:90803519 [GRCh38]
Chr15:91346749 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3359-1G>A single nucleotide variant Bloom syndrome [RCV003474366] Chr15:90803520 [GRCh38]
Chr15:91346750 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.746del (p.Asn249fs) deletion Bloom syndrome [RCV003474383] Chr15:90750012 [GRCh38]
Chr15:91293242 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1882+2T>C single nucleotide variant Bloom syndrome [RCV003474384] Chr15:90761257 [GRCh38]
Chr15:91304487 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2911G>T (p.Glu971Ter) single nucleotide variant Olaparib response [RCV003484447] Chr15:90790736 [GRCh38]
Chr15:91333966 [GRCh37]
Chr15:15q26.1		 drug response
NM_000057.4(BLM):c.1042del (p.Lys347_Met348insTer) deletion Olaparib response [RCV003484448] Chr15:90754890 [GRCh38]
Chr15:91298120 [GRCh37]
Chr15:15q26.1		 drug response
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs) deletion Bloom syndrome [RCV003474354] Chr15:90765400..90765407 [GRCh38]
Chr15:91308630..91308637 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2023dup (p.Ala675fs) duplication Bloom syndrome [RCV003474365] Chr15:90763104..90763105 [GRCh38]
Chr15:91306334..91306335 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1088-3T>G single nucleotide variant not provided [RCV003477437] Chr15:90760144 [GRCh38]
Chr15:91303374 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.515C>T (p.Pro172Leu) single nucleotide variant not provided [RCV003477438] Chr15:90749783 [GRCh38]
Chr15:91293013 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220+1G>T single nucleotide variant Bloom syndrome [RCV003474361] Chr15:90760280 [GRCh38]
Chr15:91303510 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1953_1956del (p.His651fs) deletion Bloom syndrome [RCV003474367] Chr15:90763034..90763037 [GRCh38]
Chr15:91306264..91306267 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter) single nucleotide variant Bloom syndrome [RCV003474374] Chr15:90760823 [GRCh38]
Chr15:91304053 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.2677dup (p.Ile893fs) duplication Bloom syndrome [RCV003474379] Chr15:90784933..90784934 [GRCh38]
Chr15:91328163..91328164 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.516del (p.Gln174fs) deletion Bloom syndrome [RCV003474362] Chr15:90749784 [GRCh38]
Chr15:91293014 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3866dup (p.Ser1290fs) duplication Bloom syndrome [RCV003474364] Chr15:90809250..90809251 [GRCh38]
Chr15:91352480..91352481 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2603del (p.Pro868fs) deletion Bloom syndrome [RCV003474368] Chr15:90782868 [GRCh38]
Chr15:91326098 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1622del (p.Asn541fs) deletion Bloom syndrome [RCV003474370] Chr15:90760993 [GRCh38]
Chr15:91304223 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.418G>T (p.Glu140Ter) single nucleotide variant Bloom syndrome [RCV003474377] Chr15:90749686 [GRCh38]
Chr15:91292916 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter) single nucleotide variant Bloom syndrome [RCV003474380] Chr15:90782908 [GRCh38]
Chr15:91326138 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3210+1G>A single nucleotide variant Bloom syndrome [RCV003474382]|Hereditary cancer-predisposing syndrome [RCV004604950] Chr15:90794358 [GRCh38]
Chr15:91337588 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2756del (p.His919fs) deletion Bloom syndrome [RCV003474372] Chr15:90785014 [GRCh38]
Chr15:91328244 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4077-17T>C single nucleotide variant Bloom syndrome [RCV003877724] Chr15:90815085 [GRCh38]
Chr15:91358315 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg) single nucleotide variant Bloom syndrome [RCV003831498]|Hereditary cancer-predisposing syndrome [RCV004366878] Chr15:90761192 [GRCh38]
Chr15:91304422 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2214A>G (p.Thr738=) single nucleotide variant Bloom syndrome [RCV003849290] Chr15:90766930 [GRCh38]
Chr15:91310160 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg) single nucleotide variant Bloom syndrome [RCV003824792]|Hereditary cancer-predisposing syndrome [RCV004366756] Chr15:90784929 [GRCh38]
Chr15:91328159 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1087+5A>G single nucleotide variant Bloom syndrome [RCV003828557] Chr15:90754943 [GRCh38]
Chr15:91298173 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3923G>C (p.Gly1308Ala) single nucleotide variant Bloom syndrome [RCV003831503] Chr15:90811253 [GRCh38]
Chr15:91354483 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+12T>C single nucleotide variant Bloom syndrome [RCV003882280] Chr15:90804371 [GRCh38]
Chr15:91347601 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959+20A>T single nucleotide variant Bloom syndrome [RCV003506552] Chr15:90751966 [GRCh38]
Chr15:91295196 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3558+9T>C single nucleotide variant Bloom syndrome [RCV003506602] Chr15:90803729 [GRCh38]
Chr15:91346959 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.379A>T (p.Thr127Ser) single nucleotide variant Bloom syndrome [RCV003830465] Chr15:90749647 [GRCh38]
Chr15:91292877 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.960-9del deletion BLM-related disorder [RCV003929364]|Bloom syndrome [RCV003830815] Chr15:90754795 [GRCh38]
Chr15:91298025 [GRCh37]
Chr15:15q26.1		 benign|likely benign
NM_000057.4(BLM):c.701A>G (p.Asp234Gly) single nucleotide variant Bloom syndrome [RCV003506648]|Hereditary cancer-predisposing syndrome [RCV004604975] Chr15:90749969 [GRCh38]
Chr15:91293199 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2046T>C (p.Gly682=) single nucleotide variant Bloom syndrome [RCV003878979] Chr15:90763129 [GRCh38]
Chr15:91306359 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2769T>A (p.Ser923Arg) single nucleotide variant Bloom syndrome [RCV003881969] Chr15:90785027 [GRCh38]
Chr15:91328257 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2718C>A (p.Asp906Glu) single nucleotide variant Bloom syndrome [RCV003506385] Chr15:90784976 [GRCh38]
Chr15:91328206 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+18C>T single nucleotide variant Bloom syndrome [RCV003506414] Chr15:90804377 [GRCh38]
Chr15:91347607 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1882+19G>A single nucleotide variant Bloom syndrome [RCV003506470] Chr15:90761274 [GRCh38]
Chr15:91304504 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1012T>C (p.Ser338Pro) single nucleotide variant Bloom syndrome [RCV003881437] Chr15:90754863 [GRCh38]
Chr15:91298093 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1882+15A>C single nucleotide variant Bloom syndrome [RCV003506430] Chr15:90761270 [GRCh38]
Chr15:91304500 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+18del deletion Bloom syndrome [RCV003506471] Chr15:90760293 [GRCh38]
Chr15:91303523 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs) deletion Bloom syndrome [RCV003506472] Chr15:90804184..90804185 [GRCh38]
Chr15:91347414..91347415 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.53C>T (p.Ala18Val) single nucleotide variant Bloom syndrome [RCV003506704] Chr15:90747445 [GRCh38]
Chr15:91290675 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2824-10T>C single nucleotide variant Bloom syndrome [RCV003506729] Chr15:90790639 [GRCh38]
Chr15:91333869 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.627T>C (p.Pro209=) single nucleotide variant Bloom syndrome [RCV003882342]|Hereditary cancer-predisposing syndrome [RCV004950762] Chr15:90749895 [GRCh38]
Chr15:91293125 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3841G>T (p.Val1281Leu) single nucleotide variant Bloom syndrome [RCV003506545] Chr15:90809226 [GRCh38]
Chr15:91352456 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3859G>C (p.Glu1287Gln) single nucleotide variant Bloom syndrome [RCV003506651] Chr15:90809244 [GRCh38]
Chr15:91352474 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1087+19A>G single nucleotide variant Bloom syndrome [RCV003506627] Chr15:90754957 [GRCh38]
Chr15:91298187 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3897A>C (p.Ile1299=) single nucleotide variant Bloom syndrome [RCV003878284] Chr15:90811227 [GRCh38]
Chr15:91354457 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.960-10T>G single nucleotide variant Bloom syndrome [RCV003878438] Chr15:90754801 [GRCh38]
Chr15:91298031 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1105C>G (p.Gln369Glu) single nucleotide variant Bloom syndrome [RCV003506328] Chr15:90760164 [GRCh38]
Chr15:91303394 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.514C>T (p.Pro172Ser) single nucleotide variant Bloom syndrome [RCV003506478] Chr15:90749782 [GRCh38]
Chr15:91293012 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2905T>A (p.Ser969Thr) single nucleotide variant Bloom syndrome [RCV003506486] Chr15:90790730 [GRCh38]
Chr15:91333960 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4077-13dup duplication Bloom syndrome [RCV003506495] Chr15:90815086..90815087 [GRCh38]
Chr15:91358316..91358317 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-6T>G single nucleotide variant Bloom syndrome [RCV003506578] Chr15:90765290 [GRCh38]
Chr15:91308520 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.637T>C (p.Ser213Pro) single nucleotide variant Bloom syndrome [RCV003876085]|Hereditary cancer-predisposing syndrome [RCV004605072]|not provided [RCV004787072] Chr15:90749905 [GRCh38]
Chr15:91293135 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3560T>C (p.Val1187Ala) single nucleotide variant Bloom syndrome [RCV003506628] Chr15:90804168 [GRCh38]
Chr15:91347398 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2312G>T (p.Cys771Phe) single nucleotide variant Bloom syndrome [RCV003506449] Chr15:90769137 [GRCh38]
Chr15:91312367 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1533A>C (p.Leu511=) single nucleotide variant Bloom syndrome [RCV003506694] Chr15:90760906 [GRCh38]
Chr15:91304136 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-17G>A single nucleotide variant Bloom syndrome [RCV003506511] Chr15:90804150 [GRCh38]
Chr15:91347380 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer) insertion Bloom syndrome [RCV003506714] Chr15:90749447..90749448 [GRCh38]
Chr15:91292677..91292678 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer) deletion Bloom syndrome [RCV003506742] Chr15:90765299..90765300 [GRCh38]
Chr15:91308529..91308530 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.814A>T (p.Lys272Ter) single nucleotide variant Bloom syndrome [RCV003506577] Chr15:90751801 [GRCh38]
Chr15:91295031 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2556-11G>C single nucleotide variant Bloom syndrome [RCV003613626] Chr15:90782811 [GRCh38]
Chr15:91326041 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.959+2_959+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC insertion Bloom syndrome [RCV003613627] Chr15:90751948..90751949 [GRCh38]
Chr15:91295178..91295179 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+9del deletion Bloom syndrome [RCV003615171] Chr15:90794360 [GRCh38]
Chr15:91337590 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.2075-7C>T single nucleotide variant Bloom syndrome [RCV003615200] Chr15:90765289 [GRCh38]
Chr15:91308519 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3055C>G (p.His1019Asp) single nucleotide variant Bloom syndrome [RCV003613692] Chr15:90794202 [GRCh38]
Chr15:91337432 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2823+11T>A single nucleotide variant Bloom syndrome [RCV003614427] Chr15:90785092 [GRCh38]
Chr15:91328322 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1367C>T (p.Ser456Leu) single nucleotide variant Bloom syndrome [RCV003614457] Chr15:90760740 [GRCh38]
Chr15:91303970 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2952G>A (p.Gly984=) single nucleotide variant Bloom syndrome [RCV003614475] Chr15:90790777 [GRCh38]
Chr15:91334007 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4077-8C>G single nucleotide variant Bloom syndrome [RCV003614476] Chr15:90815094 [GRCh38]
Chr15:91358324 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2579A>G (p.His860Arg) single nucleotide variant Bloom syndrome [RCV003614487] Chr15:90782845 [GRCh38]
Chr15:91326075 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.237C>T (p.Asn79=) single nucleotide variant Bloom syndrome [RCV003614490]|Hereditary cancer-predisposing syndrome [RCV004950510] Chr15:90749505 [GRCh38]
Chr15:91292735 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3279A>G (p.Ser1093=) single nucleotide variant Bloom syndrome [RCV003614500] Chr15:90798258 [GRCh38]
Chr15:91341488 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2468C>G (p.Ser823Cys) single nucleotide variant Bloom syndrome [RCV003614503] Chr15:90769499 [GRCh38]
Chr15:91312729 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3639G>A (p.Glu1213=) single nucleotide variant Bloom syndrome [RCV003613758] Chr15:90804247 [GRCh38]
Chr15:91347477 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1262C>G (p.Ala421Gly) single nucleotide variant Bloom syndrome [RCV003613766] Chr15:90760635 [GRCh38]
Chr15:91303865 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2780G>C (p.Arg927Thr) single nucleotide variant Bloom syndrome [RCV003615373] Chr15:90785038 [GRCh38]
Chr15:91328268 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+3A>G single nucleotide variant Bloom syndrome [RCV003615482] Chr15:90794360 [GRCh38]
Chr15:91337590 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1221-11T>C single nucleotide variant Bloom syndrome [RCV003613724] Chr15:90760583 [GRCh38]
Chr15:91303813 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1585G>A (p.Ala529Thr) single nucleotide variant Bloom syndrome [RCV003613762] Chr15:90760958 [GRCh38]
Chr15:91304188 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.63TAA[2] (p.Asn23del) microsatellite Bloom syndrome [RCV003613804] Chr15:90747455..90747457 [GRCh38]
Chr15:91290685..91290687 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1634G>A (p.Arg545Lys) single nucleotide variant Bloom syndrome [RCV003614512] Chr15:90761007 [GRCh38]
Chr15:91304237 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4131T>C (p.Ile1377=) single nucleotide variant Bloom syndrome [RCV003614550] Chr15:90815156 [GRCh38]
Chr15:91358386 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3048A>G (p.Arg1016=) single nucleotide variant Bloom syndrome [RCV003614564] Chr15:90794195 [GRCh38]
Chr15:91337425 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2439A>G (p.Arg813=) single nucleotide variant Bloom syndrome [RCV003613853] Chr15:90769470 [GRCh38]
Chr15:91312700 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3390A>G (p.Ile1130Met) single nucleotide variant Bloom syndrome [RCV003613785] Chr15:90803552 [GRCh38]
Chr15:91346782 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1908C>A (p.Ser636=) single nucleotide variant Bloom syndrome [RCV003613838] Chr15:90762991 [GRCh38]
Chr15:91306221 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-9T>C single nucleotide variant Bloom syndrome [RCV003613896] Chr15:90751778 [GRCh38]
Chr15:91295008 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2549C>G (p.Pro850Arg) single nucleotide variant Bloom syndrome [RCV003613925] Chr15:90769580 [GRCh38]
Chr15:91312810 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1137C>T (p.Ile379=) single nucleotide variant Bloom syndrome [RCV003613940] Chr15:90760196 [GRCh38]
Chr15:91303426 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2970G>A (p.Leu990=) single nucleotide variant Bloom syndrome [RCV003613948] Chr15:90790795 [GRCh38]
Chr15:91334025 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-8A>C single nucleotide variant Bloom syndrome [RCV003613999] Chr15:90766902 [GRCh38]
Chr15:91310132 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2288T>A (p.Leu763Gln) single nucleotide variant Bloom syndrome [RCV003613968] Chr15:90767004 [GRCh38]
Chr15:91310234 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+21del deletion Bloom syndrome [RCV003614004] Chr15:90804378 [GRCh38]
Chr15:91347608 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2722T>C (p.Leu908=) single nucleotide variant Bloom syndrome [RCV003614015] Chr15:90784980 [GRCh38]
Chr15:91328210 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2317A>G (p.Ser773Gly) single nucleotide variant Bloom syndrome [RCV003614003] Chr15:90769142 [GRCh38]
Chr15:91312372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4177A>C (p.Asn1393His) single nucleotide variant Bloom syndrome [RCV003613985] Chr15:90815202 [GRCh38]
Chr15:91358432 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2755C>G (p.His919Asp) single nucleotide variant Bloom syndrome [RCV003613981]|Hereditary cancer-predisposing syndrome [RCV004604996] Chr15:90785013 [GRCh38]
Chr15:91328243 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1A>G (p.Met1Val) single nucleotide variant Bloom syndrome [RCV003614255] Chr15:90747393 [GRCh38]
Chr15:91290623 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3945C>G (p.Leu1315=) single nucleotide variant Bloom syndrome [RCV003614599] Chr15:90811275 [GRCh38]
Chr15:91354505 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1806A>G (p.Ser602=) single nucleotide variant Bloom syndrome [RCV003615274] Chr15:90761179 [GRCh38]
Chr15:91304409 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2853G>C (p.Met951Ile) single nucleotide variant Bloom syndrome [RCV003615323]|Hereditary cancer-predisposing syndrome [RCV004605025]|not provided [RCV004763760] Chr15:90790678 [GRCh38]
Chr15:91333908 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.608C>G (p.Thr203Arg) single nucleotide variant Bloom syndrome [RCV003615395] Chr15:90749876 [GRCh38]
Chr15:91293106 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2618A>T (p.Lys873Met) single nucleotide variant Bloom syndrome [RCV003615428] Chr15:90782884 [GRCh38]
Chr15:91326114 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.972C>A (p.Asp324Glu) single nucleotide variant Bloom syndrome [RCV003614630] Chr15:90754823 [GRCh38]
Chr15:91298053 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.729del (p.Ile243fs) deletion Bloom syndrome [RCV003614693] Chr15:90749996 [GRCh38]
Chr15:91293226 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1530A>T (p.Arg510Ser) single nucleotide variant Bloom syndrome [RCV003614726] Chr15:90760903 [GRCh38]
Chr15:91304133 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3874+10C>A single nucleotide variant Bloom syndrome [RCV003811814] Chr15:90809269 [GRCh38]
Chr15:91352499 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4155T>C (p.Thr1385=) single nucleotide variant Bloom syndrome [RCV003614833] Chr15:90815180 [GRCh38]
Chr15:91358410 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly) single nucleotide variant Bloom syndrome [RCV003615216] Chr15:90811387 [GRCh38]
Chr15:91354617 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3752-10C>T single nucleotide variant Bloom syndrome [RCV003615345] Chr15:90809127 [GRCh38]
Chr15:91352357 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.271A>G (p.Lys91Glu) single nucleotide variant Bloom syndrome [RCV003614849] Chr15:90749539 [GRCh38]
Chr15:91292769 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs) deletion Bloom syndrome [RCV003614859] Chr15:90765407..90765408 [GRCh38]
Chr15:91308637..91308638 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2406+10G>C single nucleotide variant Bloom syndrome [RCV003614868] Chr15:90769241 [GRCh38]
Chr15:91312471 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3211-2A>G single nucleotide variant Bloom syndrome [RCV003614896] Chr15:90798188 [GRCh38]
Chr15:91341418 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer) microsatellite Bloom syndrome [RCV003614904] Chr15:90749904..90749905 [GRCh38]
Chr15:91293134..91293135 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.952T>C (p.Cys318Arg) single nucleotide variant Bloom syndrome [RCV003614909]|Hereditary cancer-predisposing syndrome [RCV004371878]|not provided [RCV004999996] Chr15:90751939 [GRCh38]
Chr15:91295169 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.4098G>A (p.Lys1366=) single nucleotide variant Bloom syndrome [RCV003614917] Chr15:90815123 [GRCh38]
Chr15:91358353 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.124_127del (p.Ser42fs) deletion Bloom syndrome [RCV003614920] Chr15:90749392..90749395 [GRCh38]
Chr15:91292622..91292625 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.586G>C (p.Ala196Pro) single nucleotide variant Bloom syndrome [RCV003614933] Chr15:90749854 [GRCh38]
Chr15:91293084 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2890G>A (p.Ala964Thr) single nucleotide variant Bloom syndrome [RCV003614969] Chr15:90790715 [GRCh38]
Chr15:91333945 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs) deletion Bloom syndrome [RCV003614970] Chr15:90769450..90769454 [GRCh38]
Chr15:91312680..91312684 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1734A>G (p.Lys578=) single nucleotide variant Bloom syndrome [RCV003614977] Chr15:90761107 [GRCh38]
Chr15:91304337 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2961T>C (p.Ser987=) single nucleotide variant not provided [RCV004812039] Chr15:90790786 [GRCh38]
Chr15:91334016 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.546T>C (p.Thr182=) single nucleotide variant not provided [RCV004812050] Chr15:90749814 [GRCh38]
Chr15:91293044 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1444A>C (p.Thr482Pro) single nucleotide variant Bloom syndrome [RCV003614291] Chr15:90760817 [GRCh38]
Chr15:91304047 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.156G>A (p.Val52=) single nucleotide variant Bloom syndrome [RCV003614315] Chr15:90749424 [GRCh38]
Chr15:91292654 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3707A>G (p.His1236Arg) single nucleotide variant Bloom syndrome [RCV003614333] Chr15:90804315 [GRCh38]
Chr15:91347545 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.344C>A (p.Pro115Gln) single nucleotide variant Bloom syndrome [RCV003614993] Chr15:90749612 [GRCh38]
Chr15:91292842 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556-18T>C single nucleotide variant Bloom syndrome [RCV003615003] Chr15:90782804 [GRCh38]
Chr15:91326034 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4150C>T (p.His1384Tyr) single nucleotide variant Bloom syndrome [RCV003613552] Chr15:90815175 [GRCh38]
Chr15:91358405 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3663A>G (p.Glu1221=) single nucleotide variant Bloom syndrome [RCV003614384] Chr15:90804271 [GRCh38]
Chr15:91347501 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2037A>C (p.Ala679=) single nucleotide variant Bloom syndrome [RCV003615093] Chr15:90763120 [GRCh38]
Chr15:91306350 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1479T>C (p.Asn493=) single nucleotide variant Bloom syndrome [RCV003613573] Chr15:90760852 [GRCh38]
Chr15:91304082 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2407-17_2407-16insG insertion Bloom syndrome [RCV003613802] Chr15:90769421..90769422 [GRCh38]
Chr15:91312651..91312652 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+15T>C single nucleotide variant Bloom syndrome [RCV003613810] Chr15:90765429 [GRCh38]
Chr15:91308659 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3749C>G (p.Ala1250Gly) single nucleotide variant Bloom syndrome [RCV003613894] Chr15:90804357 [GRCh38]
Chr15:91347587 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.582_595del (p.Phe194fs) deletion Bloom syndrome [RCV003613916] Chr15:90749847..90749860 [GRCh38]
Chr15:91293077..91293090 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3785A>G (p.Gln1262Arg) single nucleotide variant Bloom syndrome [RCV003613922] Chr15:90809170 [GRCh38]
Chr15:91352400 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.764G>C (p.Ser255Thr) single nucleotide variant Bloom syndrome [RCV003614011] Chr15:90750032 [GRCh38]
Chr15:91293262 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3875-20T>A single nucleotide variant Bloom syndrome [RCV003614019] Chr15:90811185 [GRCh38]
Chr15:91354415 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2163A>G (p.Val721=) single nucleotide variant Bloom syndrome [RCV003614021] Chr15:90765384 [GRCh38]
Chr15:91308614 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3960C>G (p.Pro1320=) single nucleotide variant Bloom syndrome [RCV003833556] Chr15:90811290 [GRCh38]
Chr15:91354520 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs) deletion Bloom syndrome [RCV003614341] Chr15:90782860..90782864 [GRCh38]
Chr15:91326090..91326094 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2643G>T (p.Trp881Cys) single nucleotide variant Bloom syndrome [RCV003614505] Chr15:90782909 [GRCh38]
Chr15:91326139 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2656C>T (p.His886Tyr) single nucleotide variant Bloom syndrome [RCV003613539] Chr15:90782922 [GRCh38]
Chr15:91326152 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2407-17T>C single nucleotide variant Bloom syndrome [RCV003613549] Chr15:90769421 [GRCh38]
Chr15:91312651 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.768C>A (p.Asp256Glu) single nucleotide variant Bloom syndrome [RCV003614267]|Hereditary cancer-predisposing syndrome [RCV004950492] Chr15:90750036 [GRCh38]
Chr15:91293266 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3558+5A>G single nucleotide variant Bloom syndrome [RCV003613599] Chr15:90803725 [GRCh38]
Chr15:91346955 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1321G>A (p.Gly441Ser) single nucleotide variant Bloom syndrome [RCV003614747] Chr15:90760694 [GRCh38]
Chr15:91303924 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2134_2136del (p.Val712del) deletion Bloom syndrome [RCV003614843] Chr15:90765355..90765357 [GRCh38]
Chr15:91308585..91308587 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs) deletion Bloom syndrome [RCV003614847] Chr15:90785043..90785053 [GRCh38]
Chr15:91328273..91328283 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.133A>G (p.Asn45Asp) single nucleotide variant Bloom syndrome [RCV003614891] Chr15:90749401 [GRCh38]
Chr15:91292631 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3657T>C (p.Leu1219=) single nucleotide variant Bloom syndrome [RCV003614897]|Hereditary cancer-predisposing syndrome [RCV004950580] Chr15:90804265 [GRCh38]
Chr15:91347495 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-20T>C single nucleotide variant Bloom syndrome [RCV003614914] Chr15:90751767 [GRCh38]
Chr15:91294997 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1296T>G (p.Pro432=) single nucleotide variant Bloom syndrome [RCV003614972] Chr15:90760669 [GRCh38]
Chr15:91303899 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.510T>C (p.Val170=) single nucleotide variant Bloom syndrome [RCV003614975] Chr15:90749778 [GRCh38]
Chr15:91293008 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3801T>G (p.Thr1267=) single nucleotide variant Bloom syndrome [RCV003613628] Chr15:90809186 [GRCh38]
Chr15:91352416 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.97dup (p.Ser33fs) duplication Bloom syndrome [RCV003613642] Chr15:90747485..90747486 [GRCh38]
Chr15:91290715..91290716 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2662+6T>C single nucleotide variant Bloom syndrome [RCV003615140] Chr15:90782934 [GRCh38]
Chr15:91326164 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2662+19T>C single nucleotide variant Bloom syndrome [RCV003613646] Chr15:90782947 [GRCh38]
Chr15:91326177 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.613A>G (p.Lys205Glu) single nucleotide variant Bloom syndrome [RCV003615202] Chr15:90749881 [GRCh38]
Chr15:91293111 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3263T>C (p.Val1088Ala) single nucleotide variant Bloom syndrome [RCV003615296] Chr15:90798242 [GRCh38]
Chr15:91341472 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2074+10T>C single nucleotide variant Bloom syndrome [RCV003615297] Chr15:90763167 [GRCh38]
Chr15:91306397 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1733A>G (p.Lys578Arg) single nucleotide variant Bloom syndrome [RCV003615304] Chr15:90761106 [GRCh38]
Chr15:91304336 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly) single nucleotide variant Bloom syndrome [RCV003615343]|Hereditary cancer-predisposing syndrome [RCV004374221] Chr15:90763107 [GRCh38]
Chr15:91306337 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.978C>A (p.Asp326Glu) single nucleotide variant Bloom syndrome [RCV003613693]|Hereditary cancer-predisposing syndrome [RCV004371686] Chr15:90754829 [GRCh38]
Chr15:91298059 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3882C>T (p.Asp1294=) single nucleotide variant Bloom syndrome [RCV003613709] Chr15:90811212 [GRCh38]
Chr15:91354442 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-19A>G single nucleotide variant Bloom syndrome [RCV003615402] Chr15:90782803 [GRCh38]
Chr15:91326033 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2389G>C (p.Ala797Pro) single nucleotide variant Bloom syndrome [RCV003613738]|Hereditary cancer-predisposing syndrome [RCV004604993] Chr15:90769214 [GRCh38]
Chr15:91312444 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3558+10T>C single nucleotide variant Bloom syndrome [RCV003613745] Chr15:90803730 [GRCh38]
Chr15:91346960 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3683C>T (p.Ser1228Phe) single nucleotide variant Bloom syndrome [RCV003614860] Chr15:90804291 [GRCh38]
Chr15:91347521 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+14T>A single nucleotide variant Bloom syndrome [RCV003614912] Chr15:90750081 [GRCh38]
Chr15:91293311 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3083A>T (p.His1028Leu) single nucleotide variant Bloom syndrome [RCV003615162] Chr15:90794230 [GRCh38]
Chr15:91337460 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2291A>G (p.Tyr764Cys) single nucleotide variant Bloom syndrome [RCV003615192] Chr15:90767007 [GRCh38]
Chr15:91310237 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.799+1G>A single nucleotide variant Bloom syndrome [RCV003615218] Chr15:90750068 [GRCh38]
Chr15:91293298 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4107C>T (p.Ser1369=) single nucleotide variant Bloom syndrome [RCV003615238] Chr15:90815132 [GRCh38]
Chr15:91358362 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+2T>C single nucleotide variant Bloom syndrome [RCV003615260] Chr15:90754940 [GRCh38]
Chr15:91298170 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1680_1691del (p.Phe561_Asp564del) deletion Bloom syndrome [RCV003615333] Chr15:90761048..90761059 [GRCh38]
Chr15:91304278..91304289 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220+14C>G single nucleotide variant Bloom syndrome [RCV003615445] Chr15:90760293 [GRCh38]
Chr15:91303523 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1299T>C (p.Asp433=) single nucleotide variant Bloom syndrome [RCV003855596] Chr15:90760672 [GRCh38]
Chr15:91303902 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2101C>A (p.Leu701Ile) single nucleotide variant Bloom syndrome [RCV003814332] Chr15:90765322 [GRCh38]
Chr15:91308552 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1221-11del deletion Bloom syndrome [RCV003615361] Chr15:90760580 [GRCh38]
Chr15:91303810 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.4234C>T (p.Pro1412Ser) single nucleotide variant Bloom syndrome [RCV003838485] Chr15:90815259 [GRCh38]
Chr15:91358489 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.498A>G (p.Ser166=) single nucleotide variant Bloom syndrome [RCV003816886] Chr15:90749766 [GRCh38]
Chr15:91292996 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1045_1050del (p.Ser349_Met350del) deletion Bloom syndrome [RCV003814994] Chr15:90754893..90754898 [GRCh38]
Chr15:91298123..91298128 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1470T>C (p.Pro490=) single nucleotide variant Bloom syndrome [RCV003855230]|Hereditary cancer-predisposing syndrome [RCV004366979] Chr15:90760843 [GRCh38]
Chr15:91304073 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3549C>A (p.Gly1183=) single nucleotide variant Bloom syndrome [RCV003850841]|Hereditary cancer-predisposing syndrome [RCV005311085] Chr15:90803711 [GRCh38]
Chr15:91346941 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2774C>T (p.Ser925Phe) single nucleotide variant Bloom syndrome [RCV003855517] Chr15:90785032 [GRCh38]
Chr15:91328262 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2406+16del deletion Bloom syndrome [RCV003854820] Chr15:90769242 [GRCh38]
Chr15:91312472 [GRCh37]
Chr15:15q26.1		 benign
NM_000057.4(BLM):c.1212G>C (p.Arg404=) single nucleotide variant Bloom syndrome [RCV003614398] Chr15:90760271 [GRCh38]
Chr15:91303501 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3582T>A (p.Asn1194Lys) single nucleotide variant Bloom syndrome [RCV003614520]|not provided [RCV005416729] Chr15:90804190 [GRCh38]
Chr15:91347420 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2814T>A (p.Asp938Glu) single nucleotide variant Bloom syndrome [RCV003614633]|Hereditary cancer-predisposing syndrome [RCV004950566] Chr15:90785072 [GRCh38]
Chr15:91328302 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4049C>G (p.Thr1350Ser) single nucleotide variant Bloom syndrome [RCV003614631] Chr15:90811379 [GRCh38]
Chr15:91354609 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2823G>A (p.Gln941=) single nucleotide variant Bloom syndrome [RCV003614695] Chr15:90785081 [GRCh38]
Chr15:91328311 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3388A>C (p.Ile1130Leu) single nucleotide variant Bloom syndrome [RCV003614707] Chr15:90803550 [GRCh38]
Chr15:91346780 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1220+18C>T single nucleotide variant Bloom syndrome [RCV003614730] Chr15:90760297 [GRCh38]
Chr15:91303527 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3210+10_3210+11del deletion Bloom syndrome [RCV003614757] Chr15:90794366..90794367 [GRCh38]
Chr15:91337596..91337597 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2060T>C (p.Ile687Thr) single nucleotide variant Bloom syndrome [RCV003614795] Chr15:90763143 [GRCh38]
Chr15:91306373 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr) single nucleotide variant Bloom syndrome [RCV003614823]|Hereditary cancer-predisposing syndrome [RCV004371862] Chr15:90811309 [GRCh38]
Chr15:91354539 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.3261T>C (p.Phe1087=) single nucleotide variant Bloom syndrome [RCV003614826] Chr15:90798240 [GRCh38]
Chr15:91341470 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2555+13A>T single nucleotide variant Bloom syndrome [RCV003614906] Chr15:90769599 [GRCh38]
Chr15:91312829 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1371C>T (p.His457=) single nucleotide variant Bloom syndrome [RCV003615181] Chr15:90760744 [GRCh38]
Chr15:91303974 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.624G>T (p.Leu208Phe) single nucleotide variant Bloom syndrome [RCV003615214] Chr15:90749892 [GRCh38]
Chr15:91293122 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2277C>A (p.Ile759=) single nucleotide variant Bloom syndrome [RCV003615225] Chr15:90766993 [GRCh38]
Chr15:91310223 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2004T>C (p.Phe668=) single nucleotide variant Bloom syndrome [RCV003615264] Chr15:90763087 [GRCh38]
Chr15:91306317 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.221G>T (p.Ser74Ile) single nucleotide variant Bloom syndrome [RCV003615363] Chr15:90749489 [GRCh38]
Chr15:91292719 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr) single nucleotide variant Bloom syndrome [RCV003614272]|Hereditary cancer-predisposing syndrome [RCV004371514] Chr15:90803551 [GRCh38]
Chr15:91346781 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.512C>T (p.Thr171Ile) single nucleotide variant Bloom syndrome [RCV003614279] Chr15:90749780 [GRCh38]
Chr15:91293010 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala) single nucleotide variant Bloom syndrome [RCV003614394]|Hereditary cancer-predisposing syndrome [RCV004604989] Chr15:90815226 [GRCh38]
Chr15:91358456 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3359-16T>G single nucleotide variant Bloom syndrome [RCV003613878] Chr15:90803505 [GRCh38]
Chr15:91346735 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1043T>C (p.Met348Thr) single nucleotide variant Bloom syndrome [RCV003613892]|Hereditary cancer-predisposing syndrome [RCV004950545] Chr15:90754894 [GRCh38]
Chr15:91298124 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.557C>A (p.Ser186Ter) single nucleotide variant Bloom syndrome [RCV003813719] Chr15:90749825 [GRCh38]
Chr15:91293055 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2824-14T>C single nucleotide variant Bloom syndrome [RCV003614436] Chr15:90790635 [GRCh38]
Chr15:91333865 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4124G>T (p.Ser1375Ile) single nucleotide variant Bloom syndrome [RCV003614552] Chr15:90815149 [GRCh38]
Chr15:91358379 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs) duplication Bloom syndrome [RCV003614585] Chr15:90769540..90769541 [GRCh38]
Chr15:91312770..91312771 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3874+13C>G single nucleotide variant Bloom syndrome [RCV003614593] Chr15:90809272 [GRCh38]
Chr15:91352502 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1433G>T (p.Gly478Val) single nucleotide variant Bloom syndrome [RCV003613930] Chr15:90760806 [GRCh38]
Chr15:91304036 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3834G>T (p.Val1278=) single nucleotide variant Bloom syndrome [RCV003613956] Chr15:90809219 [GRCh38]
Chr15:91352449 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.430T>A (p.Ser144Thr) single nucleotide variant Bloom syndrome [RCV003613998] Chr15:90749698 [GRCh38]
Chr15:91292928 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.662C>G (p.Thr221Ser) single nucleotide variant Bloom syndrome [RCV003614724]|Hereditary cancer-predisposing syndrome [RCV004371820] Chr15:90749930 [GRCh38]
Chr15:91293160 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4136C>T (p.Ser1379Phe) single nucleotide variant Bloom syndrome [RCV003614797] Chr15:90815161 [GRCh38]
Chr15:91358391 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2742T>C (p.Ala914=) single nucleotide variant Bloom syndrome [RCV003614745] Chr15:90785000 [GRCh38]
Chr15:91328230 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.578T>G (p.Phe193Cys) single nucleotide variant Bloom syndrome [RCV003838539]|Hereditary cancer-predisposing syndrome [RCV005301394] Chr15:90749846 [GRCh38]
Chr15:91293076 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2499T>C (p.Ala833=) single nucleotide variant Bloom syndrome [RCV003855077] Chr15:90769530 [GRCh38]
Chr15:91312760 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2186C>T (p.Ser729Phe) single nucleotide variant Bloom syndrome [RCV003613815] Chr15:90765407 [GRCh38]
Chr15:91308637 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1218A>C (p.Ile406=) single nucleotide variant Bloom syndrome [RCV003613835] Chr15:90760277 [GRCh38]
Chr15:91303507 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1299T>A (p.Asp433Glu) single nucleotide variant Bloom syndrome [RCV003613879] Chr15:90760672 [GRCh38]
Chr15:91303902 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1937G>C (p.Ser646Thr) single nucleotide variant Bloom syndrome [RCV003613882] Chr15:90763020 [GRCh38]
Chr15:91306250 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3359-7T>A single nucleotide variant Bloom syndrome [RCV003613992] Chr15:90803514 [GRCh38]
Chr15:91346744 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter) single nucleotide variant Bloom syndrome [RCV003613979] Chr15:90761178 [GRCh38]
Chr15:91304408 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.262G>T (p.Asp88Tyr) single nucleotide variant Bloom syndrome [RCV003614319]|Hereditary cancer-predisposing syndrome [RCV004371530] Chr15:90749530 [GRCh38]
Chr15:91292760 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2407-18A>T single nucleotide variant Bloom syndrome [RCV003614359] Chr15:90769420 [GRCh38]
Chr15:91312650 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-7T>C single nucleotide variant Bloom syndrome [RCV003613610] Chr15:90766903 [GRCh38]
Chr15:91310133 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys) single nucleotide variant Bloom syndrome [RCV003614302]|Hereditary cancer-predisposing syndrome [RCV004371525] Chr15:90766956 [GRCh38]
Chr15:91310186 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1818C>G (p.Asp606Glu) single nucleotide variant Bloom syndrome [RCV003614326] Chr15:90761191 [GRCh38]
Chr15:91304421 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.855A>G (p.Lys285=) single nucleotide variant Bloom syndrome [RCV003614344]|Hereditary cancer-predisposing syndrome [RCV004371538] Chr15:90751842 [GRCh38]
Chr15:91295072 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3036C>T (p.Asn1012=) single nucleotide variant Bloom syndrome [RCV003614351]|Hereditary cancer-predisposing syndrome [RCV004950501] Chr15:90794183 [GRCh38]
Chr15:91337413 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-17T>G single nucleotide variant Bloom syndrome [RCV003614397] Chr15:90790632 [GRCh38]
Chr15:91333862 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1739C>T (p.Ser580Phe) single nucleotide variant Bloom syndrome [RCV003614679]|Hereditary cancer-predisposing syndrome [RCV004950570] Chr15:90761112 [GRCh38]
Chr15:91304342 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.943T>G (p.Ser315Ala) single nucleotide variant Bloom syndrome [RCV003614691] Chr15:90751930 [GRCh38]
Chr15:91295160 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1679A>C (p.Asp560Ala) single nucleotide variant Bloom syndrome [RCV003613667] Chr15:90761052 [GRCh38]
Chr15:91304282 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.658T>A (p.Leu220Met) single nucleotide variant Bloom syndrome [RCV003614502] Chr15:90749926 [GRCh38]
Chr15:91293156 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2456del (p.Gln819fs) deletion Bloom syndrome [RCV003614542] Chr15:90769487 [GRCh38]
Chr15:91312717 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3306T>C (p.His1102=) single nucleotide variant Bloom syndrome [RCV003614789] Chr15:90798285 [GRCh38]
Chr15:91341515 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+19T>C single nucleotide variant Bloom syndrome [RCV003614903] Chr15:90811425 [GRCh38]
Chr15:91354655 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1427del (p.Lys476fs) deletion Bloom syndrome [RCV003614922] Chr15:90760798 [GRCh38]
Chr15:91304028 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1100G>C (p.Ser367Thr) single nucleotide variant Bloom syndrome [RCV003614955]|Hereditary cancer-predisposing syndrome [RCV004950584] Chr15:90760159 [GRCh38]
Chr15:91303389 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter) single nucleotide variant Bloom syndrome [RCV003614965] Chr15:90809164 [GRCh38]
Chr15:91352394 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.510T>G (p.Val170=) single nucleotide variant Bloom syndrome [RCV003613805] Chr15:90749778 [GRCh38]
Chr15:91293008 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1753C>A (p.Gln585Lys) single nucleotide variant Bloom syndrome [RCV003614655] Chr15:90761126 [GRCh38]
Chr15:91304356 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.932C>T (p.Ala311Val) single nucleotide variant Bloom syndrome [RCV003614656]|Hereditary cancer-predisposing syndrome [RCV005311036] Chr15:90751919 [GRCh38]
Chr15:91295149 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.800-11T>C single nucleotide variant Bloom syndrome [RCV003614669] Chr15:90751776 [GRCh38]
Chr15:91295006 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2420T>G (p.Phe807Cys) single nucleotide variant Bloom syndrome [RCV003614671] Chr15:90769451 [GRCh38]
Chr15:91312681 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3798T>C (p.Val1266=) single nucleotide variant Bloom syndrome [RCV003614621] Chr15:90809183 [GRCh38]
Chr15:91352413 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3260T>G (p.Phe1087Cys) single nucleotide variant Bloom syndrome [RCV003614774] Chr15:90798239 [GRCh38]
Chr15:91341469 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3450A>T (p.Ile1150=) single nucleotide variant Bloom syndrome [RCV003614810] Chr15:90803612 [GRCh38]
Chr15:91346842 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3495C>T (p.Asp1165=) single nucleotide variant Bloom syndrome [RCV003614990] Chr15:90803657 [GRCh38]
Chr15:91346887 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.98+16G>A single nucleotide variant Bloom syndrome [RCV003615054] Chr15:90747506 [GRCh38]
Chr15:91290736 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1812G>A (p.Lys604=) single nucleotide variant Bloom syndrome [RCV003613813] Chr15:90761185 [GRCh38]
Chr15:91304415 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3983G>A (p.Ser1328Asn) single nucleotide variant Bloom syndrome [RCV003613817] Chr15:90811313 [GRCh38]
Chr15:91354543 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.604A>C (p.Asn202His) single nucleotide variant Bloom syndrome [RCV003613888] Chr15:90749872 [GRCh38]
Chr15:91293102 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4170A>G (p.Ser1390=) single nucleotide variant Bloom syndrome [RCV003615020] Chr15:90815195 [GRCh38]
Chr15:91358425 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1221-8C>G single nucleotide variant Bloom syndrome [RCV003615033] Chr15:90760586 [GRCh38]
Chr15:91303816 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2358G>A (p.Arg786=) single nucleotide variant Bloom syndrome [RCV003615194] Chr15:90769183 [GRCh38]
Chr15:91312413 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3068del (p.Leu1023fs) deletion Bloom syndrome [RCV003816185] Chr15:90794213 [GRCh38]
Chr15:91337443 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1374del (p.Ser460fs) deletion Bloom syndrome [RCV003613915] Chr15:90760746 [GRCh38]
Chr15:91303976 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2194-12T>A single nucleotide variant Bloom syndrome [RCV003613950] Chr15:90766898 [GRCh38]
Chr15:91310128 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2307+1G>C single nucleotide variant Bloom syndrome [RCV003615228] Chr15:90767024 [GRCh38]
Chr15:91310254 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter) single nucleotide variant Bloom syndrome [RCV003615386] Chr15:90754902 [GRCh38]
Chr15:91298132 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.99-20G>A single nucleotide variant Bloom syndrome [RCV003615422] Chr15:90749347 [GRCh38]
Chr15:91292577 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+3A>T single nucleotide variant Bloom syndrome [RCV003615436] Chr15:90760282 [GRCh38]
Chr15:91303512 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4074G>A (p.Lys1358=) single nucleotide variant Bloom syndrome [RCV003615432]|Hereditary cancer-predisposing syndrome [RCV004374293] Chr15:90811404 [GRCh38]
Chr15:91354634 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro) single nucleotide variant Bloom syndrome [RCV003815907]|Hereditary cancer-predisposing syndrome [RCV004366695] Chr15:90809145 [GRCh38]
Chr15:91352375 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.623dup (p.Leu208fs) duplication Bloom syndrome [RCV003614002] Chr15:90749888..90749889 [GRCh38]
Chr15:91293118..91293119 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.959+20A>G single nucleotide variant Bloom syndrome [RCV003614025] Chr15:90751966 [GRCh38]
Chr15:91295196 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3912C>T (p.Ser1304=) single nucleotide variant Bloom syndrome [RCV003615341] Chr15:90811242 [GRCh38]
Chr15:91354472 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-14TC[3] microsatellite Bloom syndrome [RCV003615407] Chr15:90804153..90804154 [GRCh38]
Chr15:91347383..91347384 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2565G>C (p.Met855Ile) single nucleotide variant Bloom syndrome [RCV003615486] Chr15:90782831 [GRCh38]
Chr15:91326061 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1705G>A (p.Asp569Asn) single nucleotide variant Bloom syndrome [RCV003615495] Chr15:90761078 [GRCh38]
Chr15:91304308 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2193+17C>A single nucleotide variant Bloom syndrome [RCV003614253] Chr15:90765431 [GRCh38]
Chr15:91308661 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2823_2823+3del deletion Bloom syndrome [RCV003613607] Chr15:90785080..90785083 [GRCh38]
Chr15:91328310..91328313 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1995G>T (p.Leu665=) single nucleotide variant Bloom syndrome [RCV003613617] Chr15:90763078 [GRCh38]
Chr15:91306308 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.392C>T (p.Ser131Phe) single nucleotide variant Bloom syndrome [RCV003613632] Chr15:90749660 [GRCh38]
Chr15:91292890 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1880C>T (p.Thr627Ile) single nucleotide variant Bloom syndrome [RCV003613676] Chr15:90761253 [GRCh38]
Chr15:91304483 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.492G>C (p.Glu164Asp) single nucleotide variant Bloom syndrome [RCV003820802] Chr15:90749760 [GRCh38]
Chr15:91292990 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs) deletion Bloom syndrome [RCV003858711] Chr15:90763136..90763137 [GRCh38]
Chr15:91306366..91306367 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe) single nucleotide variant Bloom syndrome [RCV003840652]|Hereditary cancer-predisposing syndrome [RCV004605060] Chr15:90760662 [GRCh38]
Chr15:91303892 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+16T>G single nucleotide variant Bloom syndrome [RCV003821280] Chr15:90794373 [GRCh38]
Chr15:91337603 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-13A>T single nucleotide variant Bloom syndrome [RCV003843653] Chr15:90760134 [GRCh38]
Chr15:91303364 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1220+11T>G single nucleotide variant Bloom syndrome [RCV003863375] Chr15:90760290 [GRCh38]
Chr15:91303520 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-16C>T single nucleotide variant Bloom syndrome [RCV003864483] Chr15:90766894 [GRCh38]
Chr15:91310124 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3735T>G (p.Thr1245=) single nucleotide variant Bloom syndrome [RCV003857839] Chr15:90804343 [GRCh38]
Chr15:91347573 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1690G>A (p.Asp564Asn) single nucleotide variant Bloom syndrome [RCV003866981]|Hereditary cancer-predisposing syndrome [RCV004605069] Chr15:90761063 [GRCh38]
Chr15:91304293 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1686T>C (p.Asp562=) single nucleotide variant Bloom syndrome [RCV003870713] Chr15:90761059 [GRCh38]
Chr15:91304289 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2394T>C (p.His798=) single nucleotide variant Bloom syndrome [RCV003822433] Chr15:90769219 [GRCh38]
Chr15:91312449 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.988A>G (p.Arg330Gly) single nucleotide variant Bloom syndrome [RCV003871416]|Hereditary cancer-predisposing syndrome [RCV004950753] Chr15:90754839 [GRCh38]
Chr15:91298069 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1159C>A (p.Pro387Thr) single nucleotide variant Bloom syndrome [RCV003868018] Chr15:90760218 [GRCh38]
Chr15:91303448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2877A>T (p.Arg959=) single nucleotide variant Bloom syndrome [RCV003871607] Chr15:90790702 [GRCh38]
Chr15:91333932 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-10A>G single nucleotide variant Bloom syndrome [RCV003841557] Chr15:90782812 [GRCh38]
Chr15:91326042 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter) single nucleotide variant Bloom syndrome [RCV003870002] Chr15:90809169 [GRCh38]
Chr15:91352399 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1220+2T>G single nucleotide variant Bloom syndrome [RCV003871592] Chr15:90760281 [GRCh38]
Chr15:91303511 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.267C>A (p.Phe89Leu) single nucleotide variant Bloom syndrome [RCV003847426] Chr15:90749535 [GRCh38]
Chr15:91292765 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2629G>T (p.Asp877Tyr) single nucleotide variant Bloom syndrome [RCV003868965] Chr15:90782895 [GRCh38]
Chr15:91326125 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2308-20C>G single nucleotide variant Bloom syndrome [RCV003823873] Chr15:90769113 [GRCh38]
Chr15:91312343 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter) indel Bloom syndrome [RCV003818435] Chr15:90794249..90794250 [GRCh38]
Chr15:91337479..91337480 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1598A>G (p.Gln533Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516717] Chr15:90760971 [GRCh38]
Chr15:91304201 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1369C>G (p.His457Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516669] Chr15:90760742 [GRCh38]
Chr15:91303972 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.397del (p.Asp133fs) deletion Bloom syndrome [RCV005100506]|Hereditary cancer-predisposing syndrome [RCV004521366] Chr15:90749663 [GRCh38]
Chr15:91292893 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1469del (p.Pro490fs) deletion Hereditary cancer-predisposing syndrome [RCV004516700] Chr15:90760841 [GRCh38]
Chr15:91304071 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1511A>G (p.Asn504Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516706] Chr15:90760884 [GRCh38]
Chr15:91304114 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3671A>T (p.Glu1224Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519284] Chr15:90804279 [GRCh38]
Chr15:91347509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3610T>C (p.Leu1204=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519274] Chr15:90804218 [GRCh38]
Chr15:91347448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.164C>A (p.Ala55Glu) single nucleotide variant Bloom syndrome [RCV005065191]|Hereditary cancer-predisposing syndrome [RCV004516737] Chr15:90749432 [GRCh38]
Chr15:91292662 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3867A>T (p.Thr1289=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521327] Chr15:90809252 [GRCh38]
Chr15:91352482 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3947A>G (p.Asp1316Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521350] Chr15:90811277 [GRCh38]
Chr15:91354507 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3805G>A (p.Asp1269Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521305] Chr15:90809190 [GRCh38]
Chr15:91352420 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.160G>A (p.Val54Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516720] Chr15:90749428 [GRCh38]
Chr15:91292658 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1726G>C (p.Ala576Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516772] Chr15:90761099 [GRCh38]
Chr15:91304329 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1755A>G (p.Gln585=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516789] Chr15:90761128 [GRCh38]
Chr15:91304358 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.531T>A (p.Phe177Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521522] Chr15:90749799 [GRCh38]
Chr15:91293029 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1867A>G (p.Ile623Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516857] Chr15:90761240 [GRCh38]
Chr15:91304470 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.631C>G (p.Pro211Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521550] Chr15:90749899 [GRCh38]
Chr15:91293129 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.682T>C (p.Ser228Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521566] Chr15:90749950 [GRCh38]
Chr15:91293180 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1025dup (p.Leu342fs) duplication Hereditary cancer-predisposing syndrome [RCV004516531] Chr15:90754872..90754873 [GRCh38]
Chr15:91298102..91298103 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1036G>A (p.Glu346Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516535] Chr15:90754887 [GRCh38]
Chr15:91298117 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1133A>G (p.His378Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516563] Chr15:90760192 [GRCh38]
Chr15:91303422 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1164T>A (p.Asp388Glu) single nucleotide variant Bloom syndrome [RCV005100461]|Hereditary cancer-predisposing syndrome [RCV004516573] Chr15:90760223 [GRCh38]
Chr15:91303453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2226T>G (p.Thr742=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518907] Chr15:90766942 [GRCh38]
Chr15:91310172 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2366T>G (p.Leu789Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518921] Chr15:90769191 [GRCh38]
Chr15:91312421 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2396G>T (p.Cys799Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518932] Chr15:90769221 [GRCh38]
Chr15:91312451 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2419T>A (p.Phe807Ile) single nucleotide variant Bloom syndrome [RCV005100483]|Hereditary cancer-predisposing syndrome [RCV004518934] Chr15:90769450 [GRCh38]
Chr15:91312680 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.243A>G (p.Thr81=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518938] Chr15:90749511 [GRCh38]
Chr15:91292741 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4141T>C (p.Ser1381Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521416] Chr15:90815166 [GRCh38]
Chr15:91358396 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4215A>C (p.Ile1405=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521460] Chr15:90815240 [GRCh38]
Chr15:91358470 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.481G>A (p.Asp161Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521509] Chr15:90749749 [GRCh38]
Chr15:91292979 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1088-5T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516549] Chr15:90760142 [GRCh38]
Chr15:91303372 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2010T>C (p.Thr670=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518872] Chr15:90763093 [GRCh38]
Chr15:91306323 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2092T>C (p.Cys698Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518889] Chr15:90765313 [GRCh38]
Chr15:91308543 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1230T>A (p.Leu410=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516616] Chr15:90760603 [GRCh38]
Chr15:91303833 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2444A>C (p.Asn815Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518940] Chr15:90769475 [GRCh38]
Chr15:91312705 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3000A>C (p.Arg1000Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519091] Chr15:90790825 [GRCh38]
Chr15:91334055 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3011T>G (p.Leu1004Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519095] Chr15:90790836 [GRCh38]
Chr15:91334066 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3246A>G (p.Lys1082=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519144] Chr15:90798225 [GRCh38]
Chr15:91341455 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.334T>C (p.Leu112=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519165] Chr15:90749602 [GRCh38]
Chr15:91292832 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3238G>T (p.Asp1080Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519140] Chr15:90798217 [GRCh38]
Chr15:91341447 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.32A>G (p.Glu11Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519156] Chr15:90747424 [GRCh38]
Chr15:91290654 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3327T>C (p.Phe1109=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519160] Chr15:90798306 [GRCh38]
Chr15:91341536 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3376A>C (p.Ile1126Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519174] Chr15:90803538 [GRCh38]
Chr15:91346768 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1333C>T (p.Pro445Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516652] Chr15:90760706 [GRCh38]
Chr15:91303936 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3476T>C (p.Leu1159Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519207] Chr15:90803638 [GRCh38]
Chr15:91346868 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3483C>T (p.Ile1161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519213] Chr15:90803645 [GRCh38]
Chr15:91346875 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.368A>C (p.Gln123Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519286] Chr15:90749636 [GRCh38]
Chr15:91292866 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91310140-91310253)x1 copy number loss not provided [RCV003993498] Chr15:91310140..91310253 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2785G>A (p.Glu929Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519044] Chr15:90785043 [GRCh38]
Chr15:91328273 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2862C>G (p.Asp954Glu) single nucleotide variant Bloom syndrome [RCV005100490]|Hereditary cancer-predisposing syndrome [RCV004519055] Chr15:90790687 [GRCh38]
Chr15:91333917 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2502T>G (p.Asn834Lys) single nucleotide variant Bloom syndrome [RCV005100484]|Hereditary cancer-predisposing syndrome [RCV004518956] Chr15:90769533 [GRCh38]
Chr15:91312763 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1648T>C (p.Ser550Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516733] Chr15:90761021 [GRCh38]
Chr15:91304251 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1537A>G (p.Lys513Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516711] Chr15:90760910 [GRCh38]
Chr15:91304140 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1767A>T (p.Glu589Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516796] Chr15:90761140 [GRCh38]
Chr15:91304370 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2994G>C (p.Val998=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519087] Chr15:90790819 [GRCh38]
Chr15:91334049 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3448A>T (p.Ile1150Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519201] Chr15:90803610 [GRCh38]
Chr15:91346840 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3174C>G (p.His1058Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519125] Chr15:90794321 [GRCh38]
Chr15:91337551 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1184A>T (p.Asp395Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516588] Chr15:90760243 [GRCh38]
Chr15:91303473 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.365C>T (p.Thr122Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519283] Chr15:90749633 [GRCh38]
Chr15:91292863 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3629A>G (p.Gln1210Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519280] Chr15:90804237 [GRCh38]
Chr15:91347467 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3803A>G (p.Glu1268Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521303] Chr15:90809188 [GRCh38]
Chr15:91352418 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4202C>T (p.Pro1401Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521444] Chr15:90815227 [GRCh38]
Chr15:91358457 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4222C>A (p.Pro1408Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521463]|not provided [RCV004759412] Chr15:90815247 [GRCh38]
Chr15:91358477 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.90_98+4del deletion Hereditary cancer-predisposing syndrome [RCV004521633] Chr15:90747482..90747494 [GRCh38]
Chr15:91290712..91290724 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.910del (p.Ser304fs) deletion Hereditary cancer-predisposing syndrome [RCV004521636] Chr15:90751896 [GRCh38]
Chr15:91295126 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.919G>A (p.Glu307Lys) single nucleotide variant Bloom syndrome [RCV005100520]|Hereditary cancer-predisposing syndrome [RCV004521639] Chr15:90751906 [GRCh38]
Chr15:91295136 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.931G>A (p.Ala311Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521645] Chr15:90751918 [GRCh38]
Chr15:91295148 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4005G>C (p.Lys1335Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521378] Chr15:90811335 [GRCh38]
Chr15:91354565 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.77G>A (p.Ser26Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521596] Chr15:90747469 [GRCh38]
Chr15:91290699 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2097C>T (p.Tyr699=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518890] Chr15:90765318 [GRCh38]
Chr15:91308548 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.548C>T (p.Ala183Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521528] Chr15:90749816 [GRCh38]
Chr15:91293046 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.786G>A (p.Leu262=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521598] Chr15:90750054 [GRCh38]
Chr15:91293284 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.806G>T (p.Ser269Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521609] Chr15:90751793 [GRCh38]
Chr15:91295023 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2856G>T (p.Gly952=) single nucleotide variant Bloom syndrome [RCV005100489]|Hereditary cancer-predisposing syndrome [RCV004519051] Chr15:90790681 [GRCh38]
Chr15:91333911 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3002T>A (p.Leu1001Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519092] Chr15:90790827 [GRCh38]
Chr15:91334057 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3316_3318del (p.Ser1106del) deletion Hereditary cancer-predisposing syndrome [RCV004519159] Chr15:90798293..90798295 [GRCh38]
Chr15:91341523..91341525 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.697A>G (p.Ser233Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521570] Chr15:90749965 [GRCh38]
Chr15:91293195 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.753T>A (p.Asp251Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521588] Chr15:90750021 [GRCh38]
Chr15:91293251 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.770C>T (p.Ser257Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521594] Chr15:90750038 [GRCh38]
Chr15:91293268 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.814A>C (p.Lys272Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521611] Chr15:90751801 [GRCh38]
Chr15:91295031 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.83C>A (p.Ser28Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521617] Chr15:90747475 [GRCh38]
Chr15:91290705 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.857T>G (p.Val286Gly) single nucleotide variant Bloom syndrome [RCV005100519]|Hereditary cancer-predisposing syndrome [RCV004521626] Chr15:90751844 [GRCh38]
Chr15:91295074 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1164T>G (p.Asp388Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516575] Chr15:90760223 [GRCh38]
Chr15:91303453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1230_1231delinsAA (p.Leu411Ile) indel Hereditary cancer-predisposing syndrome [RCV004516614] Chr15:90760603..90760604 [GRCh38]
Chr15:91303833..91303834 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1231C>A (p.Leu411Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516617] Chr15:90760604 [GRCh38]
Chr15:91303834 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4191G>T (p.Gly1397=) single nucleotide variant BLM-related disorder [RCV003904762] Chr15:90815216 [GRCh38]
Chr15:91358446 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2050G>T (p.Asp684Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518882] Chr15:90763133 [GRCh38]
Chr15:91306363 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.270T>C (p.Phe90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519025] Chr15:90749538 [GRCh38]
Chr15:91292768 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3933C>G (p.Ala1311=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521347] Chr15:90811263 [GRCh38]
Chr15:91354493 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4047A>G (p.Lys1349=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521395] Chr15:90811377 [GRCh38]
Chr15:91354607 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3398A>G (p.Lys1133Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519183] Chr15:90803560 [GRCh38]
Chr15:91346790 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4079G>C (p.Gly1360Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521406] Chr15:90815104 [GRCh38]
Chr15:91358334 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.491A>G (p.Glu164Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521513] Chr15:90749759 [GRCh38]
Chr15:91292989 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.518C>T (p.Pro173Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521518] Chr15:90749786 [GRCh38]
Chr15:91293016 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.602C>T (p.Thr201Ile) single nucleotide variant Bloom syndrome [RCV005100514]|Hereditary cancer-predisposing syndrome [RCV004521545] Chr15:90749870 [GRCh38]
Chr15:91293100 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.769T>C (p.Ser257Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521593] Chr15:90750037 [GRCh38]
Chr15:91293267 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.826G>T (p.Glu276Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521613] Chr15:90751813 [GRCh38]
Chr15:91295043 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.929C>T (p.Ser310Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521644] Chr15:90751916 [GRCh38]
Chr15:91295146 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3687G>A (p.Leu1229=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519285] Chr15:90804295 [GRCh38]
Chr15:91347525 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3559-3A>G single nucleotide variant Bloom syndrome [RCV004555424] Chr15:90804164 [GRCh38]
Chr15:91347394 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91310120)_(91310273_?)del deletion Bloom syndrome [RCV004582909] Chr15:91310120..91310273 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91298021)_(91298188_?)del deletion Bloom syndrome [RCV004582912] Chr15:91298021..91298188 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_89379429)_(91312836_?)del deletion Bloom syndrome [RCV004582913]|D-2-hydroxyglutaric aciduria 2 [RCV004582914] Chr15:89379429..91312836 [GRCh37]
Chr15:15q26.1		 pathogenic|uncertain significance
NC_000015.9:g.(?_91333859)_(91337607_?)del deletion Bloom syndrome [RCV004582915] Chr15:91333859..91337607 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91337387)_(91354646_?)del deletion Bloom syndrome [RCV004582916] Chr15:91337387..91354646 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91346731)_(91358509_?)del deletion Bloom syndrome [RCV004582917] Chr15:91346731..91358509 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.9:g.(?_91290623)_(91341587_?)del deletion Bloom syndrome [RCV004582918] Chr15:91290623..91341587 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91290623)_(91293317_?)del deletion Bloom syndrome [RCV004582919] Chr15:91290623..91293317 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91290623)_(91308654_?)del deletion Bloom syndrome [RCV004582920] Chr15:91290623..91308654 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91303357)_(91312836_?)del deletion Bloom syndrome [RCV004582921] Chr15:91303357..91312836 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91333869)_(91358509_?)dup duplication Bloom syndrome [RCV004582923] Chr15:91333869..91358509 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_91291282)_(91292741_?)del deletion Bloom syndrome [RCV004582924] Chr15:91291282..91292741 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NC_000015.9:g.(?_91289802)_(91292950_?)del deletion Bloom syndrome [RCV004582925] Chr15:91289802..91292950 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91312656)_(91316451_?)del deletion Bloom syndrome [RCV004582911] Chr15:91312656..91316451 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1545del (p.Asn515fs) deletion Bloom syndrome [RCV004575419] Chr15:90760918 [GRCh38]
Chr15:91304148 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.1150G>T (p.Asp384Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600340] Chr15:90760209 [GRCh38]
Chr15:91303439 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2901T>C (p.Pro967=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600376] Chr15:90790726 [GRCh38]
Chr15:91333956 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3614T>C (p.Val1205Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600378] Chr15:90804222 [GRCh38]
Chr15:91347452 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2328C>T (p.Leu776=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600380] Chr15:90769153 [GRCh38]
Chr15:91312383 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3612A>G (p.Leu1204=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600381] Chr15:90804220 [GRCh38]
Chr15:91347450 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3801T>C (p.Thr1267=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600397] Chr15:90809186 [GRCh38]
Chr15:91352416 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.904C>T (p.Pro302Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600356] Chr15:90751891 [GRCh38]
Chr15:91295121 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2474C>A (p.Pro825Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600359] Chr15:90769505 [GRCh38]
Chr15:91312735 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.457G>T (p.Asp153Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600360] Chr15:90749725 [GRCh38]
Chr15:91292955 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1311C>T (p.Gly437=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600362] Chr15:90760684 [GRCh38]
Chr15:91303914 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1294C>T (p.Pro432Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600367] Chr15:90760667 [GRCh38]
Chr15:91303897 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3615A>G (p.Val1205=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600386] Chr15:90804223 [GRCh38]
Chr15:91347453 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2918dup (p.Tyr973Ter) duplication Bloom syndrome [RCV004575410] Chr15:90790742..90790743 [GRCh38]
Chr15:91333972..91333973 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.960-2A>G single nucleotide variant Bloom syndrome [RCV004575411] Chr15:90754809 [GRCh38]
Chr15:91298039 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2663-1G>A single nucleotide variant Bloom syndrome [RCV004575412] Chr15:90784920 [GRCh38]
Chr15:91328150 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.550C>T (p.Gln184Ter) single nucleotide variant Bloom syndrome [RCV004575413] Chr15:90749818 [GRCh38]
Chr15:91293048 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3540A>G (p.Val1180=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600333] Chr15:90803702 [GRCh38]
Chr15:91346932 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3380A>T (p.Gln1127Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600343] Chr15:90803542 [GRCh38]
Chr15:91346772 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.101G>A (p.Gly34Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600348] Chr15:90749369 [GRCh38]
Chr15:91292599 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2740G>T (p.Ala914Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600349] Chr15:90784998 [GRCh38]
Chr15:91328228 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2158A>G (p.Ile720Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600350] Chr15:90765379 [GRCh38]
Chr15:91308609 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1027T>C (p.Ser343Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600355] Chr15:90754878 [GRCh38]
Chr15:91298108 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.363T>C (p.Thr121=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600357] Chr15:90749631 [GRCh38]
Chr15:91292861 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.636C>T (p.Ser212=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600370] Chr15:90749904 [GRCh38]
Chr15:91293134 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4075G>A (p.Gly1359Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600374] Chr15:90811405 [GRCh38]
Chr15:91354635 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.407T>C (p.Leu136Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600385] Chr15:90749675 [GRCh38]
Chr15:91292905 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.519C>T (p.Pro173=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600390] Chr15:90749787 [GRCh38]
Chr15:91293017 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1178T>C (p.Leu393Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600392] Chr15:90760237 [GRCh38]
Chr15:91303467 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2521A>G (p.Ile841Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600394] Chr15:90769552 [GRCh38]
Chr15:91312782 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2443A>G (p.Asn815Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600399] Chr15:90769474 [GRCh38]
Chr15:91312704 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1547A>C (p.Glu516Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600334] Chr15:90760920 [GRCh38]
Chr15:91304150 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2309T>C (p.Ile770Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600339] Chr15:90769134 [GRCh38]
Chr15:91312364 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3465G>A (p.Leu1155=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600351] Chr15:90803627 [GRCh38]
Chr15:91346857 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1820G>T (p.Cys607Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600354] Chr15:90761193 [GRCh38]
Chr15:91304423 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1328C>A (p.Ser443Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600358] Chr15:90760701 [GRCh38]
Chr15:91303931 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1293G>A (p.Arg431=) single nucleotide variant Bloom syndrome [RCV005102090]|Hereditary cancer-predisposing syndrome [RCV004600369] Chr15:90760666 [GRCh38]
Chr15:91303896 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.95T>A (p.Phe32Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600373] Chr15:90747487 [GRCh38]
Chr15:91290717 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.756T>G (p.Ala252=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600377] Chr15:90750024 [GRCh38]
Chr15:91293254 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2219A>G (p.Asp740Gly) single nucleotide variant Bloom syndrome [RCV005059606]|Hereditary cancer-predisposing syndrome [RCV004600393]|not provided [RCV005409977] Chr15:90766935 [GRCh38]
Chr15:91310165 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2240C>T (p.Thr747Ile) single nucleotide variant Bloom syndrome [RCV005015211]|Hereditary cancer-predisposing syndrome [RCV004607055] Chr15:90766956 [GRCh38]
Chr15:91310186 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.956T>C (p.Leu319Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607057] Chr15:90751943 [GRCh38]
Chr15:91295173 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.267_271delinsTTTT (p.Asn92fs) indel Hereditary cancer-predisposing syndrome [RCV004607058] Chr15:90749535..90749539 [GRCh38]
Chr15:91292765..91292769 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1122T>G (p.His374Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607059] Chr15:90760181 [GRCh38]
Chr15:91303411 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2047G>A (p.Glu683Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607061] Chr15:90763130 [GRCh38]
Chr15:91306360 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2343G>C (p.Glu781Asp) single nucleotide variant Bloom syndrome [RCV005102091]|Hereditary cancer-predisposing syndrome [RCV004607062] Chr15:90769168 [GRCh38]
Chr15:91312398 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3108C>T (p.Cys1036=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600379] Chr15:90794255 [GRCh38]
Chr15:91337485 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1193A>C (p.Asn398Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600400] Chr15:90760252 [GRCh38]
Chr15:91303482 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.303_304del (p.Gly102fs) microsatellite Bloom syndrome [RCV004575417] Chr15:90749567..90749568 [GRCh38]
Chr15:91292797..91292798 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3343del (p.Val1115fs) deletion Bloom syndrome [RCV004575418] Chr15:90798321 [GRCh38]
Chr15:91341551 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1610C>T (p.Thr537Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600344] Chr15:90760983 [GRCh38]
Chr15:91304213 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.813G>C (p.Lys271Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600346] Chr15:90751800 [GRCh38]
Chr15:91295030 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2714C>T (p.Ala905Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600352] Chr15:90784972 [GRCh38]
Chr15:91328202 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.789A>C (p.Glu263Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600368] Chr15:90750057 [GRCh38]
Chr15:91293287 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3445C>A (p.Leu1149Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600382] Chr15:90803607 [GRCh38]
Chr15:91346837 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2426A>G (p.Gln809Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600383] Chr15:90769457 [GRCh38]
Chr15:91312687 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3577G>A (p.Glu1193Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600384] Chr15:90804185 [GRCh38]
Chr15:91347415 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.177A>T (p.Val59=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600387] Chr15:90749445 [GRCh38]
Chr15:91292675 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1281G>C (p.Leu427Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600389] Chr15:90760654 [GRCh38]
Chr15:91303884 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1340G>A (p.Gly447Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600396] Chr15:90760713 [GRCh38]
Chr15:91303943 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3427G>T (p.Glu1143Ter) single nucleotide variant Bloom syndrome [RCV004575414] Chr15:90803589 [GRCh38]
Chr15:91346819 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3504dup (p.Ala1169fs) duplication Bloom syndrome [RCV004575415] Chr15:90803665..90803666 [GRCh38]
Chr15:91346895..91346896 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4:c.959+2_959+3insAlu insertion Bloom syndrome [RCV004575416]   likely pathogenic
NM_000057.4(BLM):c.2113G>A (p.Val705Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600361] Chr15:90765334 [GRCh38]
Chr15:91308564 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3297T>C (p.Asn1099=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600363] Chr15:90798276 [GRCh38]
Chr15:91341506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3058T>C (p.Phe1020Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600365] Chr15:90794205 [GRCh38]
Chr15:91337435 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3080T>G (p.Val1027Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600371] Chr15:90794227 [GRCh38]
Chr15:91337457 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2372G>C (p.Arg791Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600375] Chr15:90769197 [GRCh38]
Chr15:91312427 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4247T>G (p.Phe1416Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600391] Chr15:90815272 [GRCh38]
Chr15:91358502 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1336A>C (p.Thr446Pro) single nucleotide variant BLM-related disorder [RCV004747458] Chr15:90760709 [GRCh38]
Chr15:91303939 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.40G>T (p.Glu14Ter) single nucleotide variant BLM-related disorder [RCV004728134] Chr15:90747432 [GRCh38]
Chr15:91290662 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2524C>G (p.Leu842Val) single nucleotide variant not provided [RCV004775156] Chr15:90769555 [GRCh38]
Chr15:91312785 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1784C>A (p.Ser595Ter) single nucleotide variant not provided [RCV004719501] Chr15:90761157 [GRCh38]
Chr15:91304387 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2168A>G (p.Gln723Arg) single nucleotide variant not provided [RCV005052722] Chr15:90765389 [GRCh38]
Chr15:91308619 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3193A>C (p.Asn1065His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951169] Chr15:90794340 [GRCh38]
Chr15:91337570 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2294T>C (p.Val765Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341937] Chr15:90767010 [GRCh38]
Chr15:91310240 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.867T>A (p.Ile289=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341933] Chr15:90751854 [GRCh38]
Chr15:91295084 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1303C>G (p.Leu435Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341939] Chr15:90760676 [GRCh38]
Chr15:91303906 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.862T>C (p.Cys288Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341940] Chr15:90751849 [GRCh38]
Chr15:91295079 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.512C>A (p.Thr171Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341945] Chr15:90749780 [GRCh38]
Chr15:91293010 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1862A>T (p.Glu621Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341944] Chr15:90761235 [GRCh38]
Chr15:91304465 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.825G>A (p.Leu275=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358435] Chr15:90751812 [GRCh38]
Chr15:91295042 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.863G>A (p.Cys288Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358440] Chr15:90751850 [GRCh38]
Chr15:91295080 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro) single nucleotide variant Bloom syndrome [RCV003505339]|Hereditary cancer-predisposing syndrome [RCV003358441] Chr15:90760677 [GRCh38]
Chr15:91303907 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1864T>G (p.Ser622Ala) single nucleotide variant Bloom syndrome [RCV005104017]|Hereditary cancer-predisposing syndrome [RCV003358434] Chr15:90761237 [GRCh38]
Chr15:91304467 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter) single nucleotide variant Bloom syndrome [RCV003475569]|Hereditary cancer-predisposing syndrome [RCV003358438] Chr15:90760888 [GRCh38]
Chr15:91304118 [GRCh37]
Chr15:15q26.1		 pathogenic|likely pathogenic
NM_000057.4(BLM):c.841C>A (p.His281Asn) single nucleotide variant Bloom syndrome [RCV003505338]|Hereditary cancer-predisposing syndrome [RCV003358436] Chr15:90751828 [GRCh38]
Chr15:91295058 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2508G>C (p.Arg836Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358437] Chr15:90769539 [GRCh38]
Chr15:91312769 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3254dup (p.Arg1086fs) duplication Familial cancer of breast [RCV003334409] Chr15:90798232..90798233 [GRCh38]
Chr15:91341462..91341463 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1009A>G (p.Thr337Ala) single nucleotide variant not specified [RCV003331793] Chr15:90754860 [GRCh38]
Chr15:91298090 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1936A>C (p.Ser646Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518864] Chr15:90763019 [GRCh38]
Chr15:91306249 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1943G>C (p.Ser648Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518866] Chr15:90763026 [GRCh38]
Chr15:91306256 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.194T>A (p.Val65Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518867] Chr15:90749462 [GRCh38]
Chr15:91292692 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2164del (p.Asp722fs) deletion Hereditary cancer-predisposing syndrome [RCV004518896] Chr15:90765385 [GRCh38]
Chr15:91308615 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2178G>T (p.Lys726Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518897] Chr15:90765399 [GRCh38]
Chr15:91308629 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3095A>G (p.Asn1032Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519108] Chr15:90794242 [GRCh38]
Chr15:91337472 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3562G>A (p.Asp1188Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519259] Chr15:90804170 [GRCh38]
Chr15:91347400 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2624C>T (p.Ala875Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518982] Chr15:90782890 [GRCh38]
Chr15:91326120 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2660C>T (p.Pro887Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518994] Chr15:90782926 [GRCh38]
Chr15:91326156 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1711A>G (p.Met571Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516759] Chr15:90761084 [GRCh38]
Chr15:91304314 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1723G>A (p.Ala575Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516767] Chr15:90761096 [GRCh38]
Chr15:91304326 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1641C>A (p.Thr547=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004516727] Chr15:90761014 [GRCh38]
Chr15:91304244 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3073A>G (p.Ser1025Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519101] Chr15:90794220 [GRCh38]
Chr15:91337450 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3079G>C (p.Val1027Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519104] Chr15:90794226 [GRCh38]
Chr15:91337456 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.950A>G (p.Lys317Arg) single nucleotide variant Bloom syndrome [RCV005100521]|Hereditary cancer-predisposing syndrome [RCV004521649] Chr15:90751937 [GRCh38]
Chr15:91295167 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.978C>T (p.Asp326=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004521652] Chr15:90754829 [GRCh38]
Chr15:91298059 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1942A>T (p.Ser648Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004518865] Chr15:90763025 [GRCh38]
Chr15:91306255 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3145G>A (p.Gly1049Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519118] Chr15:90794292 [GRCh38]
Chr15:91337522 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3553T>G (p.Leu1185Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004519256] Chr15:90803715 [GRCh38]
Chr15:91346945 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.760G>A (p.Glu254Lys) single nucleotide variant Bloom syndrome [RCV005102089]|Hereditary cancer-predisposing syndrome [RCV004600364] Chr15:90750028 [GRCh38]
Chr15:91293258 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3480T>C (p.Tyr1160=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004600372] Chr15:90803642 [GRCh38]
Chr15:91346872 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3242T>C (p.Val1081Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951139] Chr15:90798221 [GRCh38]
Chr15:91341451 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.276T>C (p.Asn92=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951140] Chr15:90749544 [GRCh38]
Chr15:91292774 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3959C>T (p.Pro1320Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951144] Chr15:90811289 [GRCh38]
Chr15:91354519 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2193+3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951151] Chr15:90765417 [GRCh38]
Chr15:91308647 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1828G>C (p.Val610Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951154] Chr15:90761201 [GRCh38]
Chr15:91304431 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4032G>T (p.Arg1344Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951157] Chr15:90811362 [GRCh38]
Chr15:91354592 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.209A>T (p.Asp70Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951165] Chr15:90749477 [GRCh38]
Chr15:91292707 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3406G>C (p.Ala1136Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951167] Chr15:90803568 [GRCh38]
Chr15:91346798 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2216G>A (p.Gly739Asp) single nucleotide variant Bloom syndrome [RCV005061647]|Hereditary cancer-predisposing syndrome [RCV004951168] Chr15:90766932 [GRCh38]
Chr15:91310162 [GRCh37]
Chr15:15q26.1		 benign|uncertain significance
NM_000057.4(BLM):c.627_628del (p.Pro210fs) deletion Bloom syndrome [RCV005110036]|Hereditary cancer-predisposing syndrome [RCV004951173] Chr15:90749894..90749895 [GRCh38]
Chr15:91293124..91293125 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2328C>A (p.Leu776=) single nucleotide variant Bloom syndrome [RCV005110038]|Hereditary cancer-predisposing syndrome [RCV004951185] Chr15:90769153 [GRCh38]
Chr15:91312383 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3693A>G (p.Lys1231=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951189] Chr15:90804301 [GRCh38]
Chr15:91347531 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3066T>C (p.Asn1022=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951192] Chr15:90794213 [GRCh38]
Chr15:91337443 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.869A>C (p.Glu290Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951195] Chr15:90751856 [GRCh38]
Chr15:91295086 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2019A>T (p.Leu673=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951196] Chr15:90763102 [GRCh38]
Chr15:91306332 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2608A>G (p.Lys870Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951201] Chr15:90782874 [GRCh38]
Chr15:91326104 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2880T>G (p.Phe960Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951202] Chr15:90790705 [GRCh38]
Chr15:91333935 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.242C>T (p.Thr81Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951208] Chr15:90749510 [GRCh38]
Chr15:91292740 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1586C>T (p.Ala529Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951209] Chr15:90760959 [GRCh38]
Chr15:91304189 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3401G>C (p.Gly1134Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951211] Chr15:90803563 [GRCh38]
Chr15:91346793 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3488C>A (p.Ala1163Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951212] Chr15:90803650 [GRCh38]
Chr15:91346880 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2479A>G (p.Met827Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951216] Chr15:90769510 [GRCh38]
Chr15:91312740 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4153A>C (p.Thr1385Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951217] Chr15:90815178 [GRCh38]
Chr15:91358408 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.230T>C (p.Leu77Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951223] Chr15:90749498 [GRCh38]
Chr15:91292728 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1189G>A (p.Gly397Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951226] Chr15:90760248 [GRCh38]
Chr15:91303478 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1143A>G (p.Lys381=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951232] Chr15:90760202 [GRCh38]
Chr15:91303432 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3380A>C (p.Gln1127Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951233] Chr15:90803542 [GRCh38]
Chr15:91346772 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1445C>T (p.Thr482Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951235] Chr15:90760818 [GRCh38]
Chr15:91304048 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2476G>A (p.Val826Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951243] Chr15:90769507 [GRCh38]
Chr15:91312737 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4004A>G (p.Lys1335Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951246] Chr15:90811334 [GRCh38]
Chr15:91354564 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1021C>G (p.Leu341Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951248] Chr15:90754872 [GRCh38]
Chr15:91298102 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1344T>C (p.Asn448=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951145] Chr15:90760717 [GRCh38]
Chr15:91303947 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.830A>G (p.Glu277Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951147] Chr15:90751817 [GRCh38]
Chr15:91295047 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1526C>G (p.Pro509Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951149] Chr15:90760899 [GRCh38]
Chr15:91304129 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.832G>A (p.Ala278Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951150] Chr15:90751819 [GRCh38]
Chr15:91295049 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.530T>G (p.Phe177Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951158] Chr15:90749798 [GRCh38]
Chr15:91293028 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.386A>C (p.Lys129Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951172] Chr15:90749654 [GRCh38]
Chr15:91292884 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1533A>G (p.Leu511=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951174] Chr15:90760906 [GRCh38]
Chr15:91304136 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3907A>G (p.Ser1303Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951176] Chr15:90811237 [GRCh38]
Chr15:91354467 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4204C>T (p.Pro1402Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951177] Chr15:90815229 [GRCh38]
Chr15:91358459 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.633C>G (p.Pro211=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951187] Chr15:90749901 [GRCh38]
Chr15:91293131 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3974A>G (p.Tyr1325Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951203] Chr15:90811304 [GRCh38]
Chr15:91354534 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3437T>G (p.Phe1146Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951215] Chr15:90803599 [GRCh38]
Chr15:91346829 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2830T>G (p.Cys944Gly) single nucleotide variant Bloom syndrome [RCV005110041]|Hereditary cancer-predisposing syndrome [RCV004951244] Chr15:90790655 [GRCh38]
Chr15:91333885 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3558+5A>T single nucleotide variant not provided [RCV004999071] Chr15:90803725 [GRCh38]
Chr15:91346955 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.694A>C (p.Ser232Arg) single nucleotide variant not provided [RCV004999070] Chr15:90749962 [GRCh38]
Chr15:91293192 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4103C>G (p.Ser1368Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005301473]|not provided [RCV004999069] Chr15:90815128 [GRCh38]
Chr15:91358358 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3368G>A (p.Ser1123Asn) single nucleotide variant not provided [RCV004999068] Chr15:90803530 [GRCh38]
Chr15:91346760 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1415C>T (p.Thr472Ile) single nucleotide variant not provided [RCV004999067] Chr15:90760788 [GRCh38]
Chr15:91304018 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1096A>G (p.Ile366Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951134] Chr15:90760155 [GRCh38]
Chr15:91303385 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2385T>G (p.Asp795Glu) single nucleotide variant Bloom syndrome [RCV005061646]|Hereditary cancer-predisposing syndrome [RCV004951135] Chr15:90769210 [GRCh38]
Chr15:91312440 [GRCh37]
Chr15:15q26.1		 likely benign|uncertain significance
NM_000057.4(BLM):c.1420C>G (p.Leu474Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951137] Chr15:90760793 [GRCh38]
Chr15:91304023 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3469G>A (p.Glu1157Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951138] Chr15:90803631 [GRCh38]
Chr15:91346861 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3338T>C (p.Met1113Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951142] Chr15:90798317 [GRCh38]
Chr15:91341547 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.859C>T (p.Pro287Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951143] Chr15:90751846 [GRCh38]
Chr15:91295076 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.408C>T (p.Leu136=) single nucleotide variant Bloom syndrome [RCV005110034]|Hereditary cancer-predisposing syndrome [RCV004951136] Chr15:90749676 [GRCh38]
Chr15:91292906 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.557C>G (p.Ser186Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951141] Chr15:90749825 [GRCh38]
Chr15:91293055 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1714C>T (p.His572Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951148] Chr15:90761087 [GRCh38]
Chr15:91304317 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1757C>G (p.Pro586Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951153] Chr15:90761130 [GRCh38]
Chr15:91304360 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3159T>G (p.Asp1053Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951155] Chr15:90794306 [GRCh38]
Chr15:91337536 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2659C>A (p.Pro887Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951159] Chr15:90782925 [GRCh38]
Chr15:91326155 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3392T>C (p.Phe1131Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951161] Chr15:90803554 [GRCh38]
Chr15:91346784 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1558T>C (p.Phe520Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951175] Chr15:90760931 [GRCh38]
Chr15:91304161 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.197A>G (p.Asn66Ser) single nucleotide variant Bloom syndrome [RCV005110037]|Hereditary cancer-predisposing syndrome [RCV004951179] Chr15:90749465 [GRCh38]
Chr15:91292695 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3666T>G (p.Leu1222=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951186] Chr15:90804274 [GRCh38]
Chr15:91347504 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2034T>G (p.Ala678=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951188] Chr15:90763117 [GRCh38]
Chr15:91306347 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3395G>T (p.Gly1132Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951160] Chr15:90803557 [GRCh38]
Chr15:91346787 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1431A>T (p.Thr477=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951146] Chr15:90760804 [GRCh38]
Chr15:91304034 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.595T>C (p.Tyr199His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951152] Chr15:90749863 [GRCh38]
Chr15:91293093 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1899T>G (p.Asn633Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951156] Chr15:90762982 [GRCh38]
Chr15:91306212 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.299A>G (p.Gln100Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951162] Chr15:90749567 [GRCh38]
Chr15:91292797 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2173C>G (p.Gln725Glu) single nucleotide variant Bloom syndrome [RCV005110035]|Hereditary cancer-predisposing syndrome [RCV004951163] Chr15:90765394 [GRCh38]
Chr15:91308624 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3074G>A (p.Ser1025Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951164] Chr15:90794221 [GRCh38]
Chr15:91337451 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2201C>T (p.Ala734Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951166] Chr15:90766917 [GRCh38]
Chr15:91310147 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.741T>C (p.His247=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951170] Chr15:90750009 [GRCh38]
Chr15:91293239 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1446C>G (p.Thr482=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951171] Chr15:90760819 [GRCh38]
Chr15:91304049 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2481G>T (p.Met827Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951178] Chr15:90769512 [GRCh38]
Chr15:91312742 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2938G>T (p.Ala980Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951180] Chr15:90790763 [GRCh38]
Chr15:91333993 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1915C>G (p.Leu639Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951181] Chr15:90762998 [GRCh38]
Chr15:91306228 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3370G>A (p.Ala1124Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951182] Chr15:90803532 [GRCh38]
Chr15:91346762 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2541T>G (p.Ile847Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951183] Chr15:90769572 [GRCh38]
Chr15:91312802 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2405A>G (p.Gln802Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951184] Chr15:90769230 [GRCh38]
Chr15:91312460 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2542C>T (p.Leu848Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951198] Chr15:90769573 [GRCh38]
Chr15:91312803 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2851A>G (p.Met951Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951206] Chr15:90790676 [GRCh38]
Chr15:91333906 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2637A>C (p.Leu879=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951207] Chr15:90782903 [GRCh38]
Chr15:91326133 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3894G>T (p.Gly1298=) single nucleotide variant Bloom syndrome [RCV005110040]|Hereditary cancer-predisposing syndrome [RCV004951210] Chr15:90811224 [GRCh38]
Chr15:91354454 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4227T>C (p.Phe1409=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951218] Chr15:90815252 [GRCh38]
Chr15:91358482 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1507A>T (p.Ser503Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951220] Chr15:90760880 [GRCh38]
Chr15:91304110 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2899C>A (p.Pro967Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951225] Chr15:90790724 [GRCh38]
Chr15:91333954 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.482A>G (p.Asp161Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951227] Chr15:90749750 [GRCh38]
Chr15:91292980 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.562A>C (p.Lys188Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951228] Chr15:90749830 [GRCh38]
Chr15:91293060 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2670A>C (p.Ser890=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951231] Chr15:90784928 [GRCh38]
Chr15:91328158 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1704A>G (p.Glu568=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951234] Chr15:90761077 [GRCh38]
Chr15:91304307 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.291G>A (p.Gln97=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951236] Chr15:90749559 [GRCh38]
Chr15:91292789 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1078G>C (p.Asp360His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951242] Chr15:90754929 [GRCh38]
Chr15:91298159 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1856T>A (p.Phe619Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951190] Chr15:90761229 [GRCh38]
Chr15:91304459 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2839dup (p.Ile947fs) duplication Hereditary cancer-predisposing syndrome [RCV004951191] Chr15:90790662..90790663 [GRCh38]
Chr15:91333892..91333893 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2377G>C (p.Val793Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951193] Chr15:90769202 [GRCh38]
Chr15:91312432 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1679A>T (p.Asp560Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951194] Chr15:90761052 [GRCh38]
Chr15:91304282 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3882C>G (p.Asp1294Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951197] Chr15:90811212 [GRCh38]
Chr15:91354442 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.262del (p.Asp88fs) deletion Hereditary cancer-predisposing syndrome [RCV004951199] Chr15:90749529 [GRCh38]
Chr15:91292759 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2170G>C (p.Val724Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951200] Chr15:90765391 [GRCh38]
Chr15:91308621 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.824T>C (p.Leu275Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951204] Chr15:90751811 [GRCh38]
Chr15:91295041 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3980C>G (p.Ala1327Gly) single nucleotide variant Bloom syndrome [RCV005110039]|Hereditary cancer-predisposing syndrome [RCV004951205] Chr15:90811310 [GRCh38]
Chr15:91354540 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1839T>A (p.Thr613=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951213] Chr15:90761212 [GRCh38]
Chr15:91304442 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1845A>T (p.Gln615His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951214] Chr15:90761218 [GRCh38]
Chr15:91304448 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1613C>G (p.Ala538Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951219] Chr15:90760986 [GRCh38]
Chr15:91304216 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1508G>T (p.Ser503Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951221] Chr15:90760881 [GRCh38]
Chr15:91304111 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1709T>A (p.Ile570Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951222] Chr15:90761082 [GRCh38]
Chr15:91304312 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2914G>A (p.Gly972Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951224] Chr15:90790739 [GRCh38]
Chr15:91333969 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3484A>G (p.Asn1162Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951229] Chr15:90803646 [GRCh38]
Chr15:91346876 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.594T>G (p.Leu198=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951230] Chr15:90749862 [GRCh38]
Chr15:91293092 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3389T>G (p.Ile1130Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951237] Chr15:90803551 [GRCh38]
Chr15:91346781 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2150G>A (p.Arg717Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951238] Chr15:90765371 [GRCh38]
Chr15:91308601 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.951A>G (p.Lys317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951239] Chr15:90751938 [GRCh38]
Chr15:91295168 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.197A>T (p.Asn66Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951240] Chr15:90749465 [GRCh38]
Chr15:91292695 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2967C>T (p.Cys989=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951241] Chr15:90790792 [GRCh38]
Chr15:91334022 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2980A>C (p.Thr994Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951245] Chr15:90790805 [GRCh38]
Chr15:91334035 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.790G>T (p.Asp264Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004951247] Chr15:90750058 [GRCh38]
Chr15:91293288 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.958A>G (p.Ser320Gly) single nucleotide variant not provided [RCV005001525] Chr15:90751945 [GRCh38]
Chr15:91295175 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.2:c.2403_2406del deletion not provided [RCV004823316]   likely pathogenic
NM_000057.4(BLM):c.3921del (p.Gly1308fs) deletion Bloom syndrome [RCV004820356] Chr15:90811248 [GRCh38]
Chr15:91354478 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3852A>G (p.Lys1284=) single nucleotide variant Bloom syndrome [RCV005105537] Chr15:90809237 [GRCh38]
Chr15:91352467 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-9T>C single nucleotide variant Bloom syndrome [RCV005197015] Chr15:90790640 [GRCh38]
Chr15:91333870 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.91A>T (p.Lys31Ter) single nucleotide variant Bloom syndrome [RCV005197017] Chr15:90747483 [GRCh38]
Chr15:91290713 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3185C>A (p.Ser1062Tyr) single nucleotide variant Bloom syndrome [RCV005087836] Chr15:90794332 [GRCh38]
Chr15:91337562 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2308-17A>C single nucleotide variant Bloom syndrome [RCV005089053] Chr15:90769116 [GRCh38]
Chr15:91312346 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2991T>C (p.Asp997=) single nucleotide variant Bloom syndrome [RCV005175712] Chr15:90790816 [GRCh38]
Chr15:91334046 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1082G>C (p.Cys361Ser) single nucleotide variant Bloom syndrome [RCV005066986] Chr15:90754933 [GRCh38]
Chr15:91298163 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.959+1G>A single nucleotide variant Bloom syndrome [RCV005175058] Chr15:90751947 [GRCh38]
Chr15:91295177 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2125G>A (p.Val709Ile) single nucleotide variant Bloom syndrome [RCV005195280] Chr15:90765346 [GRCh38]
Chr15:91308576 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1256G>A (p.Ser419Asn) single nucleotide variant Bloom syndrome [RCV005012203] Chr15:90760629 [GRCh38]
Chr15:91303859 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1542_1543insT (p.Asn515Ter) insertion Bloom syndrome [RCV005012204] Chr15:90760915..90760916 [GRCh38]
Chr15:91304145..91304146 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.651A>T (p.Gln217His) single nucleotide variant Bloom syndrome [RCV005085515] Chr15:90749919 [GRCh38]
Chr15:91293149 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.538G>C (p.Val180Leu) single nucleotide variant Bloom syndrome [RCV005172962] Chr15:90749806 [GRCh38]
Chr15:91293036 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3033A>G (p.Gly1011=) single nucleotide variant Bloom syndrome [RCV005170458] Chr15:90794180 [GRCh38]
Chr15:91337410 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-5A>T single nucleotide variant Bloom syndrome [RCV005086375] Chr15:90790644 [GRCh38]
Chr15:91333874 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2670A>G (p.Ser890=) single nucleotide variant Bloom syndrome [RCV005085423] Chr15:90784928 [GRCh38]
Chr15:91328158 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1760T>G (p.Ile587Ser) single nucleotide variant Bloom syndrome [RCV005195166] Chr15:90761133 [GRCh38]
Chr15:91304363 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.748G>A (p.Glu250Lys) single nucleotide variant Bloom syndrome [RCV005146149] Chr15:90750016 [GRCh38]
Chr15:91293246 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3228del (p.Asp1076fs) deletion Bloom syndrome [RCV005012207] Chr15:90798207 [GRCh38]
Chr15:91341437 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3752-11C>G single nucleotide variant Bloom syndrome [RCV005064619] Chr15:90809126 [GRCh38]
Chr15:91352356 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2575A>G (p.Arg859Gly) single nucleotide variant Bloom syndrome [RCV005060028] Chr15:90782841 [GRCh38]
Chr15:91326071 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3536C>A (p.Thr1179Asn) single nucleotide variant Bloom syndrome [RCV005173172] Chr15:90803698 [GRCh38]
Chr15:91346928 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1367C>A (p.Ser456Ter) single nucleotide variant Bloom syndrome [RCV005145003] Chr15:90760740 [GRCh38]
Chr15:91303970 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1932C>G (p.Phe644Leu) single nucleotide variant Bloom syndrome [RCV005172993] Chr15:90763015 [GRCh38]
Chr15:91306245 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.625C>T (p.Pro209Ser) single nucleotide variant Bloom syndrome [RCV005066639] Chr15:90749893 [GRCh38]
Chr15:91293123 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2269G>A (p.Asp757Asn) single nucleotide variant Bloom syndrome [RCV005089006] Chr15:90766985 [GRCh38]
Chr15:91310215 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3207A>C (p.Thr1069=) single nucleotide variant Bloom syndrome [RCV005060256] Chr15:90794354 [GRCh38]
Chr15:91337584 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3450dup (p.Leu1151fs) duplication Bloom syndrome [RCV005017420] Chr15:90803611..90803612 [GRCh38]
Chr15:91346841..91346842 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.3538del (p.Val1180fs) deletion Bloom syndrome [RCV005017421] Chr15:90803700 [GRCh38]
Chr15:91346930 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1041_1042del (p.Lys347fs) deletion Bloom syndrome [RCV005012202] Chr15:90754890..90754891 [GRCh38]
Chr15:91298120..91298121 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1087+10A>G single nucleotide variant Bloom syndrome [RCV005176689] Chr15:90754948 [GRCh38]
Chr15:91298178 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3519C>G (p.Leu1173=) single nucleotide variant Bloom syndrome [RCV005199751] Chr15:90803681 [GRCh38]
Chr15:91346911 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1244A>G (p.Asp415Gly) single nucleotide variant Bloom syndrome [RCV005156829] Chr15:90760617 [GRCh38]
Chr15:91303847 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.256_262dup (p.Asp88fs) duplication Bloom syndrome [RCV005207788] Chr15:90749519..90749520 [GRCh38]
Chr15:91292749..91292750 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.4129A>G (p.Ile1377Val) single nucleotide variant Bloom syndrome [RCV005157188] Chr15:90815154 [GRCh38]
Chr15:91358384 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1272T>C (p.Leu424=) single nucleotide variant Bloom syndrome [RCV005162058] Chr15:90760645 [GRCh38]
Chr15:91303875 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3155C>T (p.Pro1052Leu) single nucleotide variant Bloom syndrome [RCV005080183] Chr15:90794302 [GRCh38]
Chr15:91337532 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2950G>T (p.Gly984Trp) single nucleotide variant Bloom syndrome [RCV005125145] Chr15:90790775 [GRCh38]
Chr15:91334005 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2577A>G (p.Arg859=) single nucleotide variant Bloom syndrome [RCV005155876] Chr15:90782843 [GRCh38]
Chr15:91326073 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3047G>A (p.Arg1016Lys) single nucleotide variant Bloom syndrome [RCV005121922] Chr15:90794194 [GRCh38]
Chr15:91337424 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1163A>T (p.Asp388Val) single nucleotide variant Bloom syndrome [RCV005150903] Chr15:90760222 [GRCh38]
Chr15:91303452 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3508T>C (p.Tyr1170His) single nucleotide variant Bloom syndrome [RCV005134089] Chr15:90803670 [GRCh38]
Chr15:91346900 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3559-14TC[2] microsatellite Bloom syndrome [RCV005119131] Chr15:90804153..90804156 [GRCh38]
Chr15:91347383..91347386 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2999G>A (p.Arg1000Lys) single nucleotide variant Bloom syndrome [RCV005080301] Chr15:90790824 [GRCh38]
Chr15:91334054 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1798C>A (p.Leu600Ile) single nucleotide variant Bloom syndrome [RCV005122345] Chr15:90761171 [GRCh38]
Chr15:91304401 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.938C>G (p.Ser313Cys) single nucleotide variant Bloom syndrome [RCV005188420] Chr15:90751925 [GRCh38]
Chr15:91295155 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1982A>G (p.Lys661Arg) single nucleotide variant Bloom syndrome [RCV005122114] Chr15:90763065 [GRCh38]
Chr15:91306295 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3450A>G (p.Ile1150Met) single nucleotide variant Bloom syndrome [RCV005202533] Chr15:90803612 [GRCh38]
Chr15:91346842 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3876T>G (p.Ala1292=) single nucleotide variant Bloom syndrome [RCV005202555] Chr15:90811206 [GRCh38]
Chr15:91354436 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3019+15A>T single nucleotide variant Bloom syndrome [RCV005129189] Chr15:90790859 [GRCh38]
Chr15:91334089 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3461T>A (p.Ile1154Asn) single nucleotide variant Bloom syndrome [RCV005132943] Chr15:90803623 [GRCh38]
Chr15:91346853 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1496C>A (p.Ser499Tyr) single nucleotide variant Bloom syndrome [RCV005186475] Chr15:90760869 [GRCh38]
Chr15:91304099 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1855T>C (p.Phe619Leu) single nucleotide variant Bloom syndrome [RCV005079397] Chr15:90761228 [GRCh38]
Chr15:91304458 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3358+8A>G single nucleotide variant Bloom syndrome [RCV005080414] Chr15:90798345 [GRCh38]
Chr15:91341575 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3334A>C (p.Asn1112His) single nucleotide variant Bloom syndrome [RCV005185849] Chr15:90798313 [GRCh38]
Chr15:91341543 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2824-13G>C single nucleotide variant Bloom syndrome [RCV005179190] Chr15:90790636 [GRCh38]
Chr15:91333866 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3020-258A>T single nucleotide variant Bloom syndrome [RCV005206958] Chr15:90793909 [GRCh38]
Chr15:91337139 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-19A>T single nucleotide variant Bloom syndrome [RCV005134465] Chr15:90809118 [GRCh38]
Chr15:91352348 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1183G>A (p.Asp395Asn) single nucleotide variant Bloom syndrome [RCV005162702]|Hereditary cancer-predisposing syndrome [RCV005303505] Chr15:90760242 [GRCh38]
Chr15:91303472 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2445T>C (p.Asn815=) single nucleotide variant Bloom syndrome [RCV005153041] Chr15:90769476 [GRCh38]
Chr15:91312706 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1087+19A>C single nucleotide variant Bloom syndrome [RCV005127516] Chr15:90754957 [GRCh38]
Chr15:91298187 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1762A>C (p.Lys588Gln) single nucleotide variant Bloom syndrome [RCV005119690] Chr15:90761135 [GRCh38]
Chr15:91304365 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3547G>A (p.Gly1183Ser) single nucleotide variant Bloom syndrome [RCV005192145]|Hereditary cancer-predisposing syndrome [RCV005303522] Chr15:90803709 [GRCh38]
Chr15:91346939 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3359-3del deletion Bloom syndrome [RCV005115939] Chr15:90803518 [GRCh38]
Chr15:91346748 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.723C>T (p.Gly241=) single nucleotide variant Bloom syndrome [RCV005190694] Chr15:90749991 [GRCh38]
Chr15:91293221 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+14C>T single nucleotide variant Bloom syndrome [RCV005194801] Chr15:90811420 [GRCh38]
Chr15:91354650 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1400A>G (p.Asp467Gly) single nucleotide variant Bloom syndrome [RCV005198248] Chr15:90760773 [GRCh38]
Chr15:91304003 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1151A>C (p.Asp384Ala) single nucleotide variant Bloom syndrome [RCV005179584] Chr15:90760210 [GRCh38]
Chr15:91303440 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3528A>C (p.Lys1176Asn) single nucleotide variant Bloom syndrome [RCV005078550] Chr15:90803690 [GRCh38]
Chr15:91346920 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2283del (p.Lys761fs) deletion Bloom syndrome [RCV005184208] Chr15:90766996 [GRCh38]
Chr15:91310226 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3064A>C (p.Asn1022His) single nucleotide variant Bloom syndrome [RCV005133694] Chr15:90794211 [GRCh38]
Chr15:91337441 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2406+6T>C single nucleotide variant Bloom syndrome [RCV005206281] Chr15:90769237 [GRCh38]
Chr15:91312467 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3211-5C>T single nucleotide variant Bloom syndrome [RCV005206330] Chr15:90798185 [GRCh38]
Chr15:91341415 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-7T>G single nucleotide variant Bloom syndrome [RCV005205074] Chr15:90782815 [GRCh38]
Chr15:91326045 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3918C>A (p.Gly1306=) single nucleotide variant Bloom syndrome [RCV005132467] Chr15:90811248 [GRCh38]
Chr15:91354478 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2075-11T>C single nucleotide variant Bloom syndrome [RCV005161975] Chr15:90765285 [GRCh38]
Chr15:91308515 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+18T>C single nucleotide variant Bloom syndrome [RCV005198903] Chr15:90765432 [GRCh38]
Chr15:91308662 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-16A>G single nucleotide variant Bloom syndrome [RCV005116533] Chr15:90751771 [GRCh38]
Chr15:91295001 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4021G>A (p.Ala1341Thr) single nucleotide variant Bloom syndrome [RCV005185649] Chr15:90811351 [GRCh38]
Chr15:91354581 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1060A>G (p.Asn354Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307053] Chr15:90754911 [GRCh38]
Chr15:91298141 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.890del (p.Asp297fs) deletion Bloom syndrome [RCV005017418] Chr15:90751877 [GRCh38]
Chr15:91295107 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.1671del (p.Asp557fs) deletion Bloom syndrome [RCV005017419] Chr15:90761044 [GRCh38]
Chr15:91304274 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2873T>G (p.Val958Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307046] Chr15:90790698 [GRCh38]
Chr15:91333928 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3392T>A (p.Phe1131Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307049] Chr15:90803554 [GRCh38]
Chr15:91346784 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.296C>T (p.Thr99Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307050] Chr15:90749564 [GRCh38]
Chr15:91292794 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.213T>C (p.Phe71=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307058] Chr15:90749481 [GRCh38]
Chr15:91292711 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.516A>C (p.Pro172=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307059] Chr15:90749784 [GRCh38]
Chr15:91293014 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1323T>C (p.Gly441=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307063] Chr15:90760696 [GRCh38]
Chr15:91303926 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3076_3078del (p.Met1026del) deletion Bloom syndrome [RCV005114413] Chr15:90794223..90794225 [GRCh38]
Chr15:91337453..91337455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2777C>T (p.Ala926Val) single nucleotide variant Bloom syndrome [RCV005206441] Chr15:90785035 [GRCh38]
Chr15:91328265 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.731C>A (p.Ala244Asp) single nucleotide variant Bloom syndrome [RCV005138261] Chr15:90749999 [GRCh38]
Chr15:91293229 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3911G>A (p.Ser1304Asn) single nucleotide variant Bloom syndrome [RCV005138266] Chr15:90811241 [GRCh38]
Chr15:91354471 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3210+12A>G single nucleotide variant Bloom syndrome [RCV005143205] Chr15:90794369 [GRCh38]
Chr15:91337599 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2207_2208delinsTAG (p.Tyr736fs) indel Bloom syndrome [RCV005240042] Chr15:90766923..90766924 [GRCh38]
Chr15:91310153..91310154 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1366dup (p.Ser456fs) duplication Bloom syndrome [RCV005143539] Chr15:90760734..90760735 [GRCh38]
Chr15:91303964..91303965 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2472T>G (p.Val824=) single nucleotide variant Bloom syndrome [RCV005168059] Chr15:90769503 [GRCh38]
Chr15:91312733 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3874+17G>A single nucleotide variant Bloom syndrome [RCV005181939] Chr15:90809276 [GRCh38]
Chr15:91352506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-20A>C single nucleotide variant Bloom syndrome [RCV005193232] Chr15:90790629 [GRCh38]
Chr15:91333859 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2144C>T (p.Pro715Leu) single nucleotide variant Bloom syndrome [RCV005144043] Chr15:90765365 [GRCh38]
Chr15:91308595 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2976C>G (p.Phe992Leu) single nucleotide variant Bloom syndrome [RCV005143882] Chr15:90790801 [GRCh38]
Chr15:91334031 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2774C>G (p.Ser925Cys) single nucleotide variant Bloom syndrome [RCV005143931] Chr15:90785032 [GRCh38]
Chr15:91328262 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1407A>G (p.Leu469=) single nucleotide variant Bloom syndrome [RCV005205148] Chr15:90760780 [GRCh38]
Chr15:91304010 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1088-12A>G single nucleotide variant Bloom syndrome [RCV005079810] Chr15:90760135 [GRCh38]
Chr15:91303365 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.848C>T (p.Thr283Ile) single nucleotide variant Bloom syndrome [RCV005142005] Chr15:90751835 [GRCh38]
Chr15:91295065 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.705G>A (p.Val235=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307043] Chr15:90749973 [GRCh38]
Chr15:91293203 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1165G>A (p.Asp389Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307044] Chr15:90760224 [GRCh38]
Chr15:91303454 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2896C>G (p.Leu966Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307045] Chr15:90790721 [GRCh38]
Chr15:91333951 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.186T>C (p.Asn62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307048] Chr15:90749454 [GRCh38]
Chr15:91292684 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1538A>G (p.Lys513Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307062] Chr15:90760911 [GRCh38]
Chr15:91304141 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3375A>T (p.Lys1125Asn) single nucleotide variant Bloom syndrome [RCV005080108] Chr15:90803537 [GRCh38]
Chr15:91346767 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.602C>G (p.Thr201Arg) single nucleotide variant Bloom syndrome [RCV005139714] Chr15:90749870 [GRCh38]
Chr15:91293100 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2074+14G>T single nucleotide variant Bloom syndrome [RCV005169090] Chr15:90763171 [GRCh38]
Chr15:91306401 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2824-10T>G single nucleotide variant Bloom syndrome [RCV005115693] Chr15:90790639 [GRCh38]
Chr15:91333869 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1882+8T>C single nucleotide variant Bloom syndrome [RCV005149840] Chr15:90761263 [GRCh38]
Chr15:91304493 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.79C>A (p.Leu27Ile) single nucleotide variant Bloom syndrome [RCV005117032] Chr15:90747471 [GRCh38]
Chr15:91290701 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2542C>A (p.Leu848Ile) single nucleotide variant Bloom syndrome [RCV005142431] Chr15:90769573 [GRCh38]
Chr15:91312803 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3228T>C (p.Asp1076=) single nucleotide variant Bloom syndrome [RCV005144690] Chr15:90798207 [GRCh38]
Chr15:91341437 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+16T>A single nucleotide variant Bloom syndrome [RCV005144698] Chr15:90811422 [GRCh38]
Chr15:91354652 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.989G>C (p.Arg330Thr) single nucleotide variant Bloom syndrome [RCV005115925] Chr15:90754840 [GRCh38]
Chr15:91298070 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1257T>C (p.Ser419=) single nucleotide variant Bloom syndrome [RCV005132165] Chr15:90760630 [GRCh38]
Chr15:91303860 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2267_2268del (p.Lys756fs) deletion Bloom syndrome [RCV005132171] Chr15:90766978..90766979 [GRCh38]
Chr15:91310208..91310209 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2849G>C (p.Gly950Ala) single nucleotide variant Bloom syndrome [RCV005128949] Chr15:90790674 [GRCh38]
Chr15:91333904 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2511A>G (p.Val837=) single nucleotide variant Bloom syndrome [RCV005206053] Chr15:90769542 [GRCh38]
Chr15:91312772 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2323A>T (p.Arg775Ter) single nucleotide variant Bloom syndrome [RCV005137584] Chr15:90769148 [GRCh38]
Chr15:91312378 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2977T>A (p.Tyr993Asn) single nucleotide variant Bloom syndrome [RCV005137690] Chr15:90790802 [GRCh38]
Chr15:91334032 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2055T>C (p.Cys685=) single nucleotide variant Bloom syndrome [RCV005204040] Chr15:90763138 [GRCh38]
Chr15:91306368 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1474T>A (p.Phe492Ile) single nucleotide variant Bloom syndrome [RCV005178958] Chr15:90760847 [GRCh38]
Chr15:91304077 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2093_2094del (p.Cys698fs) microsatellite Bloom syndrome [RCV005117715] Chr15:90765311..90765312 [GRCh38]
Chr15:91308541..91308542 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1220+1G>C single nucleotide variant Bloom syndrome [RCV005120483] Chr15:90760280 [GRCh38]
Chr15:91303510 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.4013del (p.Lys1338fs) deletion Bloom syndrome [RCV005143199] Chr15:90811339 [GRCh38]
Chr15:91354569 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_000057.4(BLM):c.2156T>C (p.Leu719Pro) single nucleotide variant Bloom syndrome [RCV005137580] Chr15:90765377 [GRCh38]
Chr15:91308607 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3895A>G (p.Ile1299Val) single nucleotide variant Bloom syndrome [RCV005162709]|Hereditary cancer-predisposing syndrome [RCV005311194] Chr15:90811225 [GRCh38]
Chr15:91354455 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.461G>T (p.Trp154Leu) single nucleotide variant Bloom syndrome [RCV005148519] Chr15:90749729 [GRCh38]
Chr15:91292959 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4066A>C (p.Lys1356Gln) single nucleotide variant Bloom syndrome [RCV005135336]|Hereditary cancer-predisposing syndrome [RCV005303495] Chr15:90811396 [GRCh38]
Chr15:91354626 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3874+19G>T single nucleotide variant Bloom syndrome [RCV005129641] Chr15:90809278 [GRCh38]
Chr15:91352508 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1583C>G (p.Thr528Ser) single nucleotide variant Bloom syndrome [RCV005138686] Chr15:90760956 [GRCh38]
Chr15:91304186 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.649C>G (p.Gln217Glu) single nucleotide variant Bloom syndrome [RCV005138692] Chr15:90749917 [GRCh38]
Chr15:91293147 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.50C>G (p.Ser17Ter) single nucleotide variant Bloom syndrome [RCV005082367] Chr15:90747442 [GRCh38]
Chr15:91290672 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3359-6_3359-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGGGGTTTGTGTGGGTGTGTGTGGTGTGTTGGGGTGGTGGGTGGGGTTGTGGGTGGGGGTGTCTGTGGCGGGTGCGGGCGCGGGAGAGGGAGAGGGAGAGGGAGAGGGCCTGTATCTTCTT insertion Bloom syndrome [RCV005140631] Chr15:90803502..90803503 [GRCh38]
Chr15:91346732..91346733 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1401C>G (p.Asp467Glu) single nucleotide variant Bloom syndrome [RCV005142176] Chr15:90760774 [GRCh38]
Chr15:91304004 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3349A>G (p.Ile1117Val) single nucleotide variant Bloom syndrome [RCV005078009] Chr15:90798328 [GRCh38]
Chr15:91341558 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1401C>T (p.Asp467=) single nucleotide variant Bloom syndrome [RCV005134155] Chr15:90760774 [GRCh38]
Chr15:91304004 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1430C>A (p.Thr477Lys) single nucleotide variant Bloom syndrome [RCV005132274] Chr15:90760803 [GRCh38]
Chr15:91304033 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1814C>G (p.Thr605Arg) single nucleotide variant Bloom syndrome [RCV005078644] Chr15:90761187 [GRCh38]
Chr15:91304417 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2990A>T (p.Asp997Val) single nucleotide variant Bloom syndrome [RCV005134950] Chr15:90790815 [GRCh38]
Chr15:91334045 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2194-16C>G single nucleotide variant Bloom syndrome [RCV005194841] Chr15:90766894 [GRCh38]
Chr15:91310124 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.794_798del (p.Glu265fs) deletion Bloom syndrome [RCV005078724] Chr15:90750062..90750066 [GRCh38]
Chr15:91293292..91293296 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1580G>A (p.Ser527Asn) single nucleotide variant Bloom syndrome [RCV005166561] Chr15:90760953 [GRCh38]
Chr15:91304183 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4018C>T (p.Pro1340Ser) single nucleotide variant Bloom syndrome [RCV005120322] Chr15:90811348 [GRCh38]
Chr15:91354578 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3251_3255del (p.Ile1084fs) deletion Bloom syndrome [RCV005120397] Chr15:90798227..90798231 [GRCh38]
Chr15:91341457..91341461 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.2305A>G (p.Lys769Glu) single nucleotide variant Bloom syndrome [RCV005125870] Chr15:90767021 [GRCh38]
Chr15:91310251 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3902T>C (p.Leu1301Pro) single nucleotide variant Bloom syndrome [RCV005159752] Chr15:90811232 [GRCh38]
Chr15:91354462 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3412T>A (p.Ser1138Thr) single nucleotide variant Bloom syndrome [RCV005134433] Chr15:90803574 [GRCh38]
Chr15:91346804 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.960-17del deletion Bloom syndrome [RCV005162093] Chr15:90754794 [GRCh38]
Chr15:91298024 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3358+9T>A single nucleotide variant Bloom syndrome [RCV005158149] Chr15:90798346 [GRCh38]
Chr15:91341576 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2556-13G>C single nucleotide variant Bloom syndrome [RCV005134441] Chr15:90782809 [GRCh38]
Chr15:91326039 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.253del (p.Arg85fs) deletion Bloom syndrome [RCV005163951] Chr15:90749519 [GRCh38]
Chr15:91292749 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1087+13T>C single nucleotide variant Bloom syndrome [RCV005128395] Chr15:90754951 [GRCh38]
Chr15:91298181 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3875-9C>T single nucleotide variant Bloom syndrome [RCV005076890] Chr15:90811196 [GRCh38]
Chr15:91354426 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1582A>T (p.Thr528Ser) single nucleotide variant Bloom syndrome [RCV005117799] Chr15:90760955 [GRCh38]
Chr15:91304185 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3360G>C (p.Gly1120=) single nucleotide variant Bloom syndrome [RCV005188792] Chr15:90803522 [GRCh38]
Chr15:91346752 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3752-17T>G single nucleotide variant Bloom syndrome [RCV005080236] Chr15:90809120 [GRCh38]
Chr15:91352350 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4192A>G (p.Ile1398Val) single nucleotide variant Bloom syndrome [RCV005138126] Chr15:90815217 [GRCh38]
Chr15:91358447 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.503C>T (p.Ser168Leu) single nucleotide variant Bloom syndrome [RCV005165755] Chr15:90749771 [GRCh38]
Chr15:91293001 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.246T>C (p.Asn82=) single nucleotide variant Bloom syndrome [RCV005166928] Chr15:90749514 [GRCh38]
Chr15:91292744 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2193+7T>G single nucleotide variant Bloom syndrome [RCV005158605] Chr15:90765421 [GRCh38]
Chr15:91308651 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1520A>G (p.Glu507Gly) single nucleotide variant Bloom syndrome [RCV005158607] Chr15:90760893 [GRCh38]
Chr15:91304123 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2556-9C>G single nucleotide variant Bloom syndrome [RCV005192411] Chr15:90782813 [GRCh38]
Chr15:91326043 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1202T>C (p.Leu401Pro) single nucleotide variant Bloom syndrome [RCV005156274] Chr15:90760261 [GRCh38]
Chr15:91303491 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3956T>G (p.Ile1319Arg) single nucleotide variant Bloom syndrome [RCV005130925] Chr15:90811286 [GRCh38]
Chr15:91354516 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.307G>A (p.Gly103Arg) single nucleotide variant Bloom syndrome [RCV005192375] Chr15:90749575 [GRCh38]
Chr15:91292805 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3874+9A>C single nucleotide variant Bloom syndrome [RCV005138275] Chr15:90809268 [GRCh38]
Chr15:91352498 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.800-19A>G single nucleotide variant Bloom syndrome [RCV005203713] Chr15:90751768 [GRCh38]
Chr15:91294998 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2406+15T>C single nucleotide variant Bloom syndrome [RCV005163301] Chr15:90769246 [GRCh38]
Chr15:91312476 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.217T>C (p.Phe73Leu) single nucleotide variant Bloom syndrome [RCV005194423] Chr15:90749485 [GRCh38]
Chr15:91292715 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3751+13G>A single nucleotide variant Bloom syndrome [RCV005141236] Chr15:90804372 [GRCh38]
Chr15:91347602 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3265C>T (p.Gln1089Ter) single nucleotide variant Bloom syndrome [RCV005083746] Chr15:90798244 [GRCh38]
Chr15:91341474 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.441T>G (p.Ser147=) single nucleotide variant Bloom syndrome [RCV005133638] Chr15:90749709 [GRCh38]
Chr15:91292939 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3532C>T (p.Gln1178Ter) single nucleotide variant Bloom syndrome [RCV005136364] Chr15:90803694 [GRCh38]
Chr15:91346924 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3875-6T>G single nucleotide variant Bloom syndrome [RCV005194454] Chr15:90811199 [GRCh38]
Chr15:91354429 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3686_3687del (p.Leu1229fs) deletion Bloom syndrome [RCV005140352] Chr15:90804294..90804295 [GRCh38]
Chr15:91347524..91347525 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.828A>G (p.Glu276=) single nucleotide variant Bloom syndrome [RCV005131409] Chr15:90751815 [GRCh38]
Chr15:91295045 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.353T>A (p.Val118Asp) single nucleotide variant Bloom syndrome [RCV005206560] Chr15:90749621 [GRCh38]
Chr15:91292851 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3652T>C (p.Cys1218Arg) single nucleotide variant Bloom syndrome [RCV005119011] Chr15:90804260 [GRCh38]
Chr15:91347490 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2440A>G (p.Met814Val) single nucleotide variant Bloom syndrome [RCV005154756] Chr15:90769471 [GRCh38]
Chr15:91312701 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1882+4A>T single nucleotide variant Bloom syndrome [RCV005204158] Chr15:90761259 [GRCh38]
Chr15:91304489 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4149A>T (p.Ser1383=) single nucleotide variant Bloom syndrome [RCV005081504] Chr15:90815174 [GRCh38]
Chr15:91358404 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.931G>C (p.Ala311Pro) single nucleotide variant Bloom syndrome [RCV005083899] Chr15:90751918 [GRCh38]
Chr15:91295148 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2909_2910del (p.Val970fs) microsatellite Bloom syndrome [RCV005135215] Chr15:90790732..90790733 [GRCh38]
Chr15:91333962..91333963 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1080C>T (p.Asp360=) single nucleotide variant Bloom syndrome [RCV005115512] Chr15:90754931 [GRCh38]
Chr15:91298161 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2971del (p.Leu991fs) deletion Bloom syndrome [RCV005148222] Chr15:90790796 [GRCh38]
Chr15:91334026 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1461T>G (p.Phe487Leu) single nucleotide variant Bloom syndrome [RCV005122583] Chr15:90760834 [GRCh38]
Chr15:91304064 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+13del deletion Bloom syndrome [RCV005114385] Chr15:90769599 [GRCh38]
Chr15:91312829 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3368G>T (p.Ser1123Ile) single nucleotide variant Bloom syndrome [RCV005152670] Chr15:90803530 [GRCh38]
Chr15:91346760 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1456C>A (p.Leu486Ile) single nucleotide variant Bloom syndrome [RCV005202068] Chr15:90760829 [GRCh38]
Chr15:91304059 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2555+15G>T single nucleotide variant Bloom syndrome [RCV005204298] Chr15:90769601 [GRCh38]
Chr15:91312831 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.6T>C (p.Ala2=) single nucleotide variant Bloom syndrome [RCV005074144] Chr15:90747398 [GRCh38]
Chr15:91290628 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3129C>G (p.Ala1043=) single nucleotide variant Bloom syndrome [RCV005125010] Chr15:90794276 [GRCh38]
Chr15:91337506 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2194-18T>C single nucleotide variant Bloom syndrome [RCV005177325] Chr15:90766892 [GRCh38]
Chr15:91310122 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3359-8_3359-6del microsatellite Bloom syndrome [RCV005155020] Chr15:90803509..90803511 [GRCh38]
Chr15:91346739..91346741 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2308-14T>C single nucleotide variant Bloom syndrome [RCV005205526] Chr15:90769119 [GRCh38]
Chr15:91312349 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1776A>G (p.Pro592=) single nucleotide variant Bloom syndrome [RCV005129613] Chr15:90761149 [GRCh38]
Chr15:91304379 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2149A>C (p.Arg717=) single nucleotide variant Bloom syndrome [RCV005150639] Chr15:90765370 [GRCh38]
Chr15:91308600 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2335A>T (p.Thr779Ser) single nucleotide variant Bloom syndrome [RCV005179103] Chr15:90769160 [GRCh38]
Chr15:91312390 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.257T>G (p.Val86Gly) single nucleotide variant Bloom syndrome [RCV005201085] Chr15:90749525 [GRCh38]
Chr15:91292755 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3248G>A (p.Ser1083Asn) single nucleotide variant Bloom syndrome [RCV005122962] Chr15:90798227 [GRCh38]
Chr15:91341457 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3241G>A (p.Val1081Met) single nucleotide variant Bloom syndrome [RCV005122995] Chr15:90798220 [GRCh38]
Chr15:91341450 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.447T>A (p.Ser149Arg) single nucleotide variant Bloom syndrome [RCV005201116] Chr15:90749715 [GRCh38]
Chr15:91292945 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.68A>G (p.Asn23Ser) single nucleotide variant Bloom syndrome [RCV005129766] Chr15:90747460 [GRCh38]
Chr15:91290690 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2616A>C (p.Lys872Asn) single nucleotide variant Bloom syndrome [RCV005128760] Chr15:90782882 [GRCh38]
Chr15:91326112 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1728_1731del (p.Ser577fs) microsatellite Bloom syndrome [RCV005203597] Chr15:90761097..90761100 [GRCh38]
Chr15:91304327..91304330 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1059G>T (p.Leu353=) single nucleotide variant Bloom syndrome [RCV005115869] Chr15:90754910 [GRCh38]
Chr15:91298140 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.960-13T>A single nucleotide variant Bloom syndrome [RCV005127515] Chr15:90754798 [GRCh38]
Chr15:91298028 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1307A>T (p.Asp436Val) single nucleotide variant Bloom syndrome [RCV005124011] Chr15:90760680 [GRCh38]
Chr15:91303910 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.798A>G (p.Arg266=) single nucleotide variant Bloom syndrome [RCV005181778] Chr15:90750066 [GRCh38]
Chr15:91293296 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.631C>T (p.Pro211Ser) single nucleotide variant Bloom syndrome [RCV005181846] Chr15:90749899 [GRCh38]
Chr15:91293129 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.366C>T (p.Thr122=) single nucleotide variant Bloom syndrome [RCV005126600] Chr15:90749634 [GRCh38]
Chr15:91292864 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2965del (p.Cys989fs) deletion Bloom syndrome [RCV005072862] Chr15:90790790 [GRCh38]
Chr15:91334020 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.3211-15T>C single nucleotide variant Bloom syndrome [RCV005110714] Chr15:90798175 [GRCh38]
Chr15:91341405 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3424G>A (p.Ala1142Thr) single nucleotide variant Bloom syndrome [RCV005182141]|Hereditary cancer-predisposing syndrome [RCV005311211] Chr15:90803586 [GRCh38]
Chr15:91346816 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.594T>C (p.Leu198=) single nucleotide variant Bloom syndrome [RCV005199387] Chr15:90749862 [GRCh38]
Chr15:91293092 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3102G>C (p.Thr1034=) single nucleotide variant Bloom syndrome [RCV005122460] Chr15:90794249 [GRCh38]
Chr15:91337479 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.3751+4G>A single nucleotide variant Bloom syndrome [RCV005151381] Chr15:90804363 [GRCh38]
Chr15:91347593 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.98+20del deletion Bloom syndrome [RCV005110877] Chr15:90747508 [GRCh38]
Chr15:91290738 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1942A>C (p.Ser648Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298014] Chr15:90763025 [GRCh38]
Chr15:91306255 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1014A>G (p.Ser338=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298002] Chr15:90754865 [GRCh38]
Chr15:91298095 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1426A>G (p.Lys476Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298008] Chr15:90760799 [GRCh38]
Chr15:91304029 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1763A>G (p.Lys588Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298010] Chr15:90761136 [GRCh38]
Chr15:91304366 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.546T>A (p.Thr182=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298016] Chr15:90749814 [GRCh38]
Chr15:91293044 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4155T>A (p.Thr1385=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298017] Chr15:90815180 [GRCh38]
Chr15:91358410 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1199T>C (p.Leu400Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298024] Chr15:90760258 [GRCh38]
Chr15:91303488 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2403T>G (p.Ser801Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298026] Chr15:90769228 [GRCh38]
Chr15:91312458 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.772C>T (p.Leu258=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298028] Chr15:90750040 [GRCh38]
Chr15:91293270 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2756A>G (p.His919Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298030] Chr15:90785014 [GRCh38]
Chr15:91328244 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2398G>A (p.Val800Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307042] Chr15:90769223 [GRCh38]
Chr15:91312453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1655A>G (p.Asp552Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307060] Chr15:90761028 [GRCh38]
Chr15:91304258 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3535A>C (p.Thr1179Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307064] Chr15:90803697 [GRCh38]
Chr15:91346927 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.611T>C (p.Val204Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005297995] Chr15:90749879 [GRCh38]
Chr15:91293109 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.133A>T (p.Asn45Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298001] Chr15:90749401 [GRCh38]
Chr15:91292631 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.860C>T (p.Pro287Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298009] Chr15:90751847 [GRCh38]
Chr15:91295077 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2758G>A (p.Ala920Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298021] Chr15:90785016 [GRCh38]
Chr15:91328246 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.848C>A (p.Thr283Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298027] Chr15:90751835 [GRCh38]
Chr15:91295065 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1610C>G (p.Thr537Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298032] Chr15:90760983 [GRCh38]
Chr15:91304213 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.874G>T (p.Asp292Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307057] Chr15:90751861 [GRCh38]
Chr15:91295091 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.436G>A (p.Asp146Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307065] Chr15:90749704 [GRCh38]
Chr15:91292934 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2681A>C (p.Tyr894Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307051] Chr15:90784939 [GRCh38]
Chr15:91328169 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1459T>G (p.Phe487Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005297996] Chr15:90760832 [GRCh38]
Chr15:91304062 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1778T>C (p.Ile593Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298000] Chr15:90761151 [GRCh38]
Chr15:91304381 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4036A>G (p.Lys1346Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298004] Chr15:90811366 [GRCh38]
Chr15:91354596 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.471G>T (p.Met157Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298006] Chr15:90749739 [GRCh38]
Chr15:91292969 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3430A>C (p.Arg1144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298011] Chr15:90803592 [GRCh38]
Chr15:91346822 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2591A>G (p.Tyr864Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298012] Chr15:90782857 [GRCh38]
Chr15:91326087 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1468C>G (p.Pro490Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298019] Chr15:90760841 [GRCh38]
Chr15:91304071 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1167T>C (p.Asp389=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298031] Chr15:90760226 [GRCh38]
Chr15:91303456 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4096A>C (p.Lys1366Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307047] Chr15:90815121 [GRCh38]
Chr15:91358351 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.758A>G (p.Gln253Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307052] Chr15:90750026 [GRCh38]
Chr15:91293256 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.320T>C (p.Leu107Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307056] Chr15:90749588 [GRCh38]
Chr15:91292818 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.173C>G (p.Pro58Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307054] Chr15:90749441 [GRCh38]
Chr15:91292671 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3374A>G (p.Lys1125Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298022] Chr15:90803536 [GRCh38]
Chr15:91346766 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.3914G>T (p.Arg1305Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298025] Chr15:90811244 [GRCh38]
Chr15:91354474 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.772C>G (p.Leu258Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005297998] Chr15:90750040 [GRCh38]
Chr15:91293270 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.881A>T (p.Asp294Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298015] Chr15:90751868 [GRCh38]
Chr15:91295098 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1651T>G (p.Tyr551Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298020] Chr15:90761024 [GRCh38]
Chr15:91304254 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.1883A>G (p.Asp628Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298029] Chr15:90762966 [GRCh38]
Chr15:91306196 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.2629G>C (p.Asp877His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005307055] Chr15:90782895 [GRCh38]
Chr15:91326125 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+472A>G single nucleotide variant not provided [RCV005425476] Chr15:90811878 [GRCh38]
Chr15:91355108 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+314C>T single nucleotide variant not provided [RCV005427978] Chr15:90811720 [GRCh38]
Chr15:91354950 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1237_1243delinsTAC (p.Glu413fs) indel Bloom syndrome [RCV005418656] Chr15:90760610..90760616 [GRCh38]
Chr15:91303840..91303846 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_000057.4(BLM):c.1667T>C (p.Phe556Ser) single nucleotide variant not specified [RCV005418717] Chr15:90761040 [GRCh38]
Chr15:91304270 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_000057.4(BLM):c.4076+347A>G single nucleotide variant not provided [RCV005425518] Chr15:90811753 [GRCh38]
Chr15:91354983 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.4076+320C>T single nucleotide variant not provided [RCV005425490] Chr15:90811726 [GRCh38]
Chr15:91354956 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.2073T>G (p.Thr691=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005297999] Chr15:90763156 [GRCh38]
Chr15:91306386 [GRCh37]
Chr15:15q26.1		 likely benign
NM_000057.4(BLM):c.1475T>C (p.Phe492Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV005298005] Chr15:90760848 [GRCh38]
Chr15:91304078 [GRCh37]
Chr15:15q26.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2182
Count of miRNA genes:1034
Interacting mature miRNAs:1259
Transcripts:ENST00000355112, ENST00000558599, ENST00000558825, ENST00000559282, ENST00000559426, ENST00000559724, ENST00000560136, ENST00000560509, ENST00000560559, ENST00000560821
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406968561GWAS617537_Hdaytime rest measurement QTL GWAS617537 (human)0.000009sleep behavior trait (VT:0001501)159073798090737981Human
597345176GWAS1441250_Hcolor vision disorder QTL GWAS1441250 (human)0.0000002color vision disorder159075553690755537Human
407039008GWAS687984_Hdelta-5 desaturase measurement QTL GWAS687984 (human)0.000004delta-5 desaturase measurement159076999490769995Human
407039508GWAS688484_Hdelta-5 desaturase measurement QTL GWAS688484 (human)0.000008delta-5 desaturase measurement159076959390769594Human

Markers in Region
STS-T99721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,333,410 - 91,333,538UniSTSGRCh37
Build 361589,134,414 - 89,134,542RGDNCBI36
Celera1567,742,022 - 67,742,150RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,445,243 - 67,445,371UniSTS
GeneMap99-GB4 RH Map15324.91UniSTS
NCBI RH Map15670.7UniSTS
D15S1129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,300,478 - 91,300,741UniSTSGRCh37
Build 361589,101,482 - 89,101,745RGDNCBI36
Celera1567,709,094 - 67,709,357RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,412,124 - 67,412,387UniSTS
D15S1144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,318,303 - 91,318,492UniSTSGRCh37
Build 361589,119,307 - 89,119,496RGDNCBI36
Celera1567,726,917 - 67,727,106RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,430,140 - 67,430,329UniSTS
D15S1145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,330,646 - 91,330,782UniSTSGRCh37
Build 361589,131,650 - 89,131,786RGDNCBI36
Celera1567,739,260 - 67,739,396RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,442,482 - 67,442,618UniSTS
WI-16966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,333,680 - 91,333,793UniSTSGRCh37
Build 361589,134,684 - 89,134,797RGDNCBI36
Celera1567,742,292 - 67,742,405RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,445,513 - 67,445,626UniSTS
GeneMap99-GB4 RH Map15324.81UniSTS
Whitehead-RH Map15345.9UniSTS
NCBI RH Map15669.6UniSTS
D15S834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,358,301 - 91,358,500UniSTSGRCh37
Build 361589,159,305 - 89,159,504RGDNCBI36
Celera1567,766,896 - 67,767,095RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,470,133 - 67,470,332UniSTS
Whitehead-RH Map15338.9UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15627.9UniSTS
RH18053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,358,443 - 91,358,575UniSTSGRCh37
Build 361589,159,447 - 89,159,579RGDNCBI36
Celera1567,767,038 - 67,767,170RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,470,275 - 67,470,407UniSTS
GeneMap99-GB4 RH Map15324.91UniSTS
NCBI RH Map15671.9UniSTS
A008V47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,333,288 - 91,333,387UniSTSGRCh37
Build 361589,134,292 - 89,134,391RGDNCBI36
Celera1567,741,900 - 67,741,999RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,445,121 - 67,445,220UniSTS
GeneMap99-GB4 RH Map15323.22UniSTS
NCBI RH Map15673.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2786 2246 4968 1723 2348 6 620 1951 462 2269 7287 6458 53 3731 849 1742 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY886902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP363946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD707743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA122319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB520927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW703449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000355112   ⟹   ENSP00000347232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,717,346 - 90,816,166 (+)Ensembl
Ensembl Acc Id: ENST00000558599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,750,008 - 90,760,822 (+)Ensembl
Ensembl Acc Id: ENST00000558825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,793,801 - 90,815,361 (+)Ensembl
Ensembl Acc Id: ENST00000559282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,747,390 - 90,749,960 (+)Ensembl
Ensembl Acc Id: ENST00000559426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,762,364 - 90,769,181 (+)Ensembl
Ensembl Acc Id: ENST00000559724   ⟹   ENSP00000453359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,717,404 - 90,815,328 (+)Ensembl
Ensembl Acc Id: ENST00000560136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,762,396 - 90,811,327 (+)Ensembl
Ensembl Acc Id: ENST00000560509   ⟹   ENSP00000454158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,717,394 - 90,815,333 (+)Ensembl
Ensembl Acc Id: ENST00000560559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,789,253 - 90,815,419 (+)Ensembl
Ensembl Acc Id: ENST00000560821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,808,771 - 90,815,629 (+)Ensembl
Ensembl Acc Id: ENST00000648453   ⟹   ENSP00000497646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,717,363 - 90,815,342 (+)Ensembl
Ensembl Acc Id: ENST00000680772   ⟹   ENSP00000506117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,724,072 - 90,815,982 (+)Ensembl
Ensembl Acc Id: ENST00000681142   ⟹   ENSP00000506682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,717,363 - 90,811,956 (+)Ensembl
RefSeq Acc Id: NM_000057   ⟹   NP_000048
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,717,346 - 90,816,166 (+)NCBI
GRCh371591,260,579 - 91,358,686 (+)ENTREZGENE
Build 361589,061,583 - 89,159,690 (+)NCBI Archive
HuRef1567,371,942 - 67,470,524 (+)NCBI
CHM1_11591,102,285 - 91,200,349 (+)NCBI
T2T-CHM13v2.01588,475,676 - 88,575,539 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287246   ⟹   NP_001274175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,717,346 - 90,816,166 (+)NCBI
HuRef1567,371,942 - 67,470,524 (+)NCBI
CHM1_11591,102,285 - 91,200,349 (+)NCBI
T2T-CHM13v2.01588,475,676 - 88,575,539 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287247   ⟹   NP_001274176
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,717,346 - 90,816,166 (+)NCBI
HuRef1567,371,942 - 67,470,524 (+)NCBI
CHM1_11591,102,285 - 91,200,349 (+)NCBI
T2T-CHM13v2.01588,475,676 - 88,575,539 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001287248   ⟹   NP_001274177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,717,346 - 90,816,166 (+)NCBI
HuRef1567,371,942 - 67,470,524 (+)NCBI
CHM1_11591,102,285 - 91,200,349 (+)NCBI
T2T-CHM13v2.01588,475,676 - 88,575,539 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720632   ⟹   XP_006720695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,761,200 - 90,816,166 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521882   ⟹   XP_011520184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,717,346 - 90,777,947 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432934   ⟹   XP_047288890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,754,861 - 90,816,166 (+)NCBI
RefSeq Acc Id: XM_054378601   ⟹   XP_054234576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,513,181 - 88,575,539 (+)NCBI
RefSeq Acc Id: XM_054378602   ⟹   XP_054234577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,475,676 - 88,536,250 (+)NCBI
RefSeq Acc Id: XM_054378603   ⟹   XP_054234578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,519,614 - 88,575,539 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000048 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274175 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274176 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274177 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720695 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520184 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288890 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234576 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234577 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234578 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA87850 (Get FASTA)   NCBI Sequence Viewer  
  AAH93622 (Get FASTA)   NCBI Sequence Viewer  
  AAI01568 (Get FASTA)   NCBI Sequence Viewer  
  AAI07424 (Get FASTA)   NCBI Sequence Viewer  
  AAI15031 (Get FASTA)   NCBI Sequence Viewer  
  AAI15033 (Get FASTA)   NCBI Sequence Viewer  
  AAI43281 (Get FASTA)   NCBI Sequence Viewer  
  AAW62255 (Get FASTA)   NCBI Sequence Viewer  
  BAG36927 (Get FASTA)   NCBI Sequence Viewer  
  BAH12008 (Get FASTA)   NCBI Sequence Viewer  
  BAH13907 (Get FASTA)   NCBI Sequence Viewer  
  EAX02107 (Get FASTA)   NCBI Sequence Viewer  
  EAX02108 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347232
  ENSP00000347232.3
  ENSP00000454158
  ENSP00000506117
  ENSP00000506117.1
GenBank Protein P54132 (Get FASTA)   NCBI Sequence Viewer  
  UIW38035 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000048   ⟸   NM_000057
- Peptide Label: isoform 1
- UniProtKB: Q52M96 (UniProtKB/Swiss-Prot),   P54132 (UniProtKB/Swiss-Prot),   B2RAN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274175   ⟸   NM_001287246
- Peptide Label: isoform 1
- UniProtKB: Q52M96 (UniProtKB/Swiss-Prot),   P54132 (UniProtKB/Swiss-Prot),   B2RAN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274177   ⟸   NM_001287248
- Peptide Label: isoform 3
- UniProtKB: B7ZKN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274176   ⟸   NM_001287247
- Peptide Label: isoform 2
- UniProtKB: H0YNU5 (UniProtKB/TrEMBL),   B2RAN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720695   ⟸   XM_006720632
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011520184   ⟸   XM_011521882
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000497646   ⟸   ENST00000648453
Ensembl Acc Id: ENSP00000453359   ⟸   ENST00000559724
Ensembl Acc Id: ENSP00000454158   ⟸   ENST00000560509
Ensembl Acc Id: ENSP00000347232   ⟸   ENST00000355112
Ensembl Acc Id: ENSP00000506117   ⟸   ENST00000680772
Ensembl Acc Id: ENSP00000506682   ⟸   ENST00000681142
RefSeq Acc Id: XP_047288890   ⟸   XM_047432934
- Peptide Label: isoform X1
- UniProtKB: B7ZKN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234577   ⟸   XM_054378602
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234576   ⟸   XM_054378601
- Peptide Label: isoform X1
- UniProtKB: B7ZKN7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054234578   ⟸   XM_054378603
- Peptide Label: isoform X3
Protein Domains
BDHCT   Helicase ATP-binding   Helicase C-terminal   HRDC   RecQ-like DNA helicase BLM BDHCT-box associated   RecQ-like DNA helicase BLM N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54132-F1-model_v2 AlphaFold P54132 1-1417 view protein structure

Promoters
RGD ID:6792120
Promoter ID:HG_KWN:22340
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000313495,   UC010BNX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361589,061,179 - 89,061,679 (+)MPROMDB
RGD ID:6810725
Promoter ID:HG_ACW:28079
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BLM.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361589,093,981 - 89,094,481 (+)MPROMDB
RGD ID:7230539
Promoter ID:EPDNEW_H21015
Type:initiation region
Name:BLM_1
Description:Bloom syndrome RecQ like helicase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,717,363 - 90,717,423EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1058 AgrOrtholog
COSMIC BLM COSMIC
Ensembl Genes ENSG00000197299 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000355112 ENTREZGENE
  ENST00000355112.8 UniProtKB/Swiss-Prot
  ENST00000560509 ENTREZGENE
  ENST00000680772 ENTREZGENE
  ENST00000680772.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
  1.10.150.80 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000197299 GTEx
HGNC ID HGNC:1058 ENTREZGENE
Human Proteome Map BLM Human Proteome Map
InterPro BDHCT UniProtKB/Swiss-Prot
  BDHCT_assoc UniProtKB/Swiss-Prot
  BLM_N UniProtKB/Swiss-Prot
  DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot
  DNA/RNA_helicase_DEAH_CS UniProtKB/Swiss-Prot
  DNA_helicase_ATP-dep_RecQ UniProtKB/Swiss-Prot
  Helicase_ATP-bd UniProtKB/Swiss-Prot
  Helicase_C UniProtKB/Swiss-Prot
  HRDC-like_sf UniProtKB/Swiss-Prot
  HRDC_dom UniProtKB/Swiss-Prot
  HRDC_dom_sf UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  RecQ_Zn-bd UniProtKB/Swiss-Prot
  RQC_domain UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:641 UniProtKB/Swiss-Prot
NCBI Gene 641 ENTREZGENE
OMIM 604610 OMIM
PANTHER DNA HELICASE RECQ FAMILY MEMBER UniProtKB/Swiss-Prot
  RECQ-LIKE DNA HELICASE BLM UniProtKB/Swiss-Prot
Pfam BDHCT UniProtKB/Swiss-Prot
  BDHCT_assoc UniProtKB/Swiss-Prot
  BLM_N UniProtKB/Swiss-Prot
  DEAD UniProtKB/Swiss-Prot
  Helicase_C UniProtKB/Swiss-Prot
  HRDC UniProtKB/Swiss-Prot
  RecQ_Zn_bind UniProtKB/Swiss-Prot
  RQC UniProtKB/Swiss-Prot
PharmGKB PA25369 PharmGKB
PROSITE DEAH_ATP_HELICASE UniProtKB/Swiss-Prot
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot
  HELICASE_CTER UniProtKB/Swiss-Prot
  HRDC UniProtKB/Swiss-Prot
SMART DEXDc UniProtKB/Swiss-Prot
  HELICc UniProtKB/Swiss-Prot
  HRDC UniProtKB/Swiss-Prot
  RQC UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
  SSF47819 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
UniProt A0A3B3IT82_HUMAN UniProtKB/TrEMBL
  A0A7P0TBM9_HUMAN UniProtKB/TrEMBL
  B2RAN0 ENTREZGENE, UniProtKB/TrEMBL
  B7ZKN7 ENTREZGENE, UniProtKB/TrEMBL
  BLM_HUMAN UniProtKB/Swiss-Prot
  H0YLV8_HUMAN UniProtKB/TrEMBL
  H0YNU5 ENTREZGENE, UniProtKB/TrEMBL
  P54132 ENTREZGENE
  Q3B7X0_HUMAN UniProtKB/TrEMBL
  Q52M96 ENTREZGENE
UniProt Secondary Q52M96 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-14 BLM  BLM RecQ like helicase    Bloom syndrome RecQ like helicase  Symbol and/or name change 5135510 APPROVED
2016-02-10 BLM  Bloom syndrome RecQ like helicase    Bloom syndrome, RecQ helicase-like  Symbol and/or name change 5135510 APPROVED