RECQL (RecQ like helicase) - Rat Genome Database

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Gene: RECQL (RecQ like helicase) Homo sapiens
Analyze
Symbol: RECQL
Name: RecQ like helicase
RGD ID: 1322333
HGNC Page HGNC:9948
Description: Enables 3'-5' DNA helicase activity; DNA/DNA annealing activity; and double-stranded DNA helicase activity. Involved in replication fork processing. Located in nucleoplasm. Implicated in hepatocellular carcinoma; lung cancer; and pancreatic cancer. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-dependent DNA helicase Q1; DNA 3'-5' helicase Q1; DNA helicase Q1-like; DNA helicase, RecQ-like type 1; DNA-dependent ATPase Q1; RECON; RecQ helicase-like; RecQ protein-like (DNA helicase Q1-like); recQ protein-like 1; RecQ1; RECQL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100421306  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381221,468,910 - 21,501,635 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1221,468,910 - 21,501,669 (-)EnsemblGRCh38hg38GRCh38
GRCh371221,621,844 - 21,654,569 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361221,513,965 - 21,545,796 (-)NCBINCBI36Build 36hg18NCBI36
Build 341221,514,353 - 21,545,796NCBI
Celera1226,777,229 - 26,809,985 (-)NCBICelera
Cytogenetic Map12p12.1NCBI
HuRef1221,395,874 - 21,428,641 (-)NCBIHuRef
CHM1_11221,587,472 - 21,620,203 (-)NCBICHM1_1
T2T-CHM13v2.01221,347,594 - 21,380,648 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,6-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
allethrin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
clofibric acid  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dibenz[a,h]anthracene  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP)
fenvalerate  (ISO)
flutamide  (ISO)
FR900359  (EXP)
glafenine  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
kojic acid  (EXP)
levonorgestrel  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
piroxicam  (EXP)
propanal  (EXP)
pyrethrins  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
Testosterone propionate  (ISO)
testosterone undecanoate  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromosome  (IBA)
cytoplasm  (IBA)
membrane  (HDA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA,TAS)

References

References - curated
# Reference Title Reference Citation
1. Single nucleotide polymorphism in RECQL and survival in resectable pancreatic adenocarcinoma. Cotton RT, etal., HPB (Oxford). 2009;11(5):435-44.
2. Anticancer activity of RecQL1 helicase siRNA in mouse xenograft models. Futami K, etal., Cancer Sci. 2008 Jun;99(6):1227-36. Epub 2008 Apr 14.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival. Li D, etal., Cancer Res. 2006 Mar 15;66(6):3323-30.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7527136   PMID:7607686   PMID:7961977   PMID:8056767   PMID:8889549   PMID:9168958   PMID:11562355   PMID:11799066   PMID:12419324   PMID:12419808   PMID:12477932   PMID:15096578  
PMID:15146197   PMID:15489334   PMID:15886194   PMID:15899892   PMID:16260474   PMID:16344560   PMID:16520463   PMID:17227144   PMID:17483412   PMID:17953710   PMID:18029348   PMID:18074021  
PMID:18448429   PMID:18495662   PMID:19147782   PMID:19151156   PMID:19177149   PMID:19494003   PMID:19536092   PMID:19759913   PMID:19946888   PMID:20065033   PMID:20198302   PMID:20644561  
PMID:21059676   PMID:21752281   PMID:21873635   PMID:22174317   PMID:22190034   PMID:22356911   PMID:22542292   PMID:22586326   PMID:22705827   PMID:22863883   PMID:23095637   PMID:23396353  
PMID:23601052   PMID:23650516   PMID:23951333   PMID:24147044   PMID:24623817   PMID:24854846   PMID:24895130   PMID:25228686   PMID:25281560   PMID:25424877   PMID:25437307   PMID:25483193  
PMID:25544563   PMID:25609649   PMID:25831490   PMID:25915596   PMID:25921289   PMID:25945795   PMID:26125302   PMID:26186194   PMID:26344197   PMID:26387136   PMID:26455304   PMID:26496610  
PMID:26725729   PMID:27125668   PMID:27248010   PMID:27565844   PMID:27684187   PMID:27832498   PMID:27837030   PMID:28186131   PMID:28190767   PMID:28373211   PMID:28514442   PMID:28515276  
PMID:28846114   PMID:29341116   PMID:29351780   PMID:29467282   PMID:29564676   PMID:29656893   PMID:29914420   PMID:29955894   PMID:29987050   PMID:30154076   PMID:30224651   PMID:30463901  
PMID:30610487   PMID:30833792   PMID:30884312   PMID:30948266   PMID:31091453   PMID:31231988   PMID:31255466   PMID:31444271   PMID:31586073   PMID:31772289   PMID:31995728   PMID:32176739  
PMID:32416067   PMID:32517021   PMID:32687490   PMID:32780723   PMID:32807901   PMID:32820027   PMID:33462405   PMID:33468559   PMID:33545068   PMID:33961781   PMID:34079125   PMID:34189442  
PMID:34349018   PMID:34551306   PMID:34751402   PMID:34795231   PMID:35016035   PMID:35025765   PMID:35031058   PMID:35032548   PMID:35182466   PMID:35231585   PMID:35256949   PMID:35271311  
PMID:35439318   PMID:35446349   PMID:35509820   PMID:35696571   PMID:35785414   PMID:35831314   PMID:35944360   PMID:36089195   PMID:36168628   PMID:36215168   PMID:36232890   PMID:36424410  
PMID:36526897   PMID:36527092   PMID:36774506   PMID:36880596   PMID:37612308   PMID:37827155   PMID:38113892   PMID:38803224   PMID:38874681   PMID:39147351   PMID:39238192   PMID:39501047  


Genomics

Comparative Map Data
RECQL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381221,468,910 - 21,501,635 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1221,468,910 - 21,501,669 (-)EnsemblGRCh38hg38GRCh38
GRCh371221,621,844 - 21,654,569 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361221,513,965 - 21,545,796 (-)NCBINCBI36Build 36hg18NCBI36
Build 341221,514,353 - 21,545,796NCBI
Celera1226,777,229 - 26,809,985 (-)NCBICelera
Cytogenetic Map12p12.1NCBI
HuRef1221,395,874 - 21,428,641 (-)NCBIHuRef
CHM1_11221,587,472 - 21,620,203 (-)NCBICHM1_1
T2T-CHM13v2.01221,347,594 - 21,380,648 (-)NCBIT2T-CHM13v2.0
Recql
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396142,296,068 - 142,332,802 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6142,296,068 - 142,332,813 (-)EnsemblGRCm39 Ensembl
GRCm386142,350,342 - 142,387,100 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6142,350,342 - 142,387,087 (-)EnsemblGRCm38mm10GRCm38
MGSCv376142,310,420 - 142,335,607 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366142,319,368 - 142,344,253 (-)NCBIMGSCv36mm8
Celera6145,421,861 - 145,447,035 (-)NCBICelera
Cytogenetic Map6G2NCBI
cM Map673.91NCBI
Recql
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84177,039,351 - 177,063,968 (-)NCBIGRCr8
mRatBN7.24175,308,337 - 175,332,965 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4175,304,117 - 175,332,945 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4181,603,185 - 181,627,672 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04177,387,454 - 177,411,941 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04176,008,012 - 176,032,500 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04176,581,892 - 176,606,520 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4176,581,897 - 176,606,382 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04240,795,675 - 240,820,290 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44179,927,255 - 179,951,742 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14180,172,380 - 180,196,866 (-)NCBI
Celera4163,841,046 - 163,865,533 (-)NCBICelera
Cytogenetic Map4q44NCBI
Recql
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541317,113,408 - 17,148,708 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541317,115,443 - 17,148,708 (-)NCBIChiLan1.0ChiLan1.0
RECQL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21075,300,616 - 75,333,274 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11275,297,014 - 75,329,247 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01264,796,383 - 64,829,165 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11267,400,315 - 67,432,724 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1267,400,315 - 67,432,724 (+)Ensemblpanpan1.1panPan2
RECQL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12725,590,326 - 25,636,304 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2725,590,831 - 25,636,685 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2720,715,583 - 20,761,524 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02725,818,962 - 25,865,150 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2725,819,030 - 25,865,148 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12725,611,850 - 25,658,034 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02725,634,863 - 25,681,036 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02720,891,461 - 20,937,671 (-)NCBIUU_Cfam_GSD_1.0
Recql
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494587,426,992 - 87,463,355 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365485,362,517 - 5,384,338 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365485,349,878 - 5,384,603 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RECQL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl551,953,451 - 52,003,740 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1551,953,460 - 51,995,619 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2555,229,615 - 55,272,155 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RECQL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11121,334,601 - 21,366,943 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1121,331,584 - 21,366,979 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606913,777,790 - 13,810,627 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Recql
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475217,185,129 - 17,220,707 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475217,183,624 - 17,220,954 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RECQL
1310 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_002907.4(RECQL):c.962_965del (p.Cys321fs) deletion not provided [RCV000657483]|not specified [RCV004026007] Chr12:21475809..21475812 [GRCh38]
Chr12:21628743..21628746 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.427_428del (p.Leu143fs) microsatellite not provided [RCV000657537]|not specified [RCV004026010] Chr12:21486552..21486553 [GRCh38]
Chr12:21639486..21639487 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709198]|not provided [RCV000657717]|not specified [RCV004026013] Chr12:21470285 [GRCh38]
Chr12:21623219 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1219C>T (p.Arg407Ter) single nucleotide variant RECQL-related disorder [RCV003411562]|not provided [RCV000657732]|not specified [RCV004026014] Chr12:21474977 [GRCh38]
Chr12:21627911 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.142C>T (p.Gln48Ter) single nucleotide variant not provided [RCV000657744]|not specified [RCV004026015] Chr12:21491591 [GRCh38]
Chr12:21644525 [GRCh37]
Chr12:12p12.1
likely pathogenic|uncertain significance
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1
pathogenic
NM_002907.4(RECQL):c.633_635del (p.Arg212del) deletion not provided [RCV001348700]|not specified [RCV004036562] Chr12:21483441..21483443 [GRCh38]
Chr12:21636375..21636377 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1147G>A (p.Val383Met) single nucleotide variant not provided [RCV001303588]|not specified [RCV004036283] Chr12:21475537 [GRCh38]
Chr12:21628471 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1547T>C (p.Ile516Thr) single nucleotide variant not provided [RCV001302844]|not specified [RCV004036258] Chr12:21471548 [GRCh38]
Chr12:21624482 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 copy number loss See cases [RCV000135588] Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1
likely pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 copy number loss See cases [RCV000135620] Chr12:15840854..22021652 [GRCh38]
Chr12:15993788..22174586 [GRCh37]
Chr12:15885055..22065853 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_002907.4(RECQL):c.1704G>A (p.Ser568=) single nucleotide variant not provided [RCV001403002]|not specified [RCV000600550] Chr12:21471062 [GRCh38]
Chr12:21623996 [GRCh37]
Chr12:12p12.1
likely benign
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)x3 copy number gain See cases [RCV000448936] Chr12:19193233..21709479 [GRCh37]
Chr12:12p12.3-12.1
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:20837998-22734873)x3 copy number gain See cases [RCV000448036] Chr12:20837998..22734873 [GRCh37]
Chr12:12p12.2-12.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_002907.4(RECQL):c.23C>T (p.Thr8Ile) single nucleotide variant not specified [RCV004331537] Chr12:21491710 [GRCh38]
Chr12:21644644 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.940G>A (p.Gly314Arg) single nucleotide variant not specified [RCV004331542] Chr12:21476920 [GRCh38]
Chr12:21629854 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.647T>C (p.Ile216Thr) single nucleotide variant not specified [RCV004331563] Chr12:21483429 [GRCh38]
Chr12:21636363 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.26A>C (p.Glu9Ala) single nucleotide variant not specified [RCV004331546] Chr12:21491707 [GRCh38]
Chr12:21644641 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1240T>G (p.Cys414Gly) single nucleotide variant not specified [RCV004331550] Chr12:21474956 [GRCh38]
Chr12:21627890 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.411T>C (p.Ile137=) single nucleotide variant not specified [RCV004331554] Chr12:21486569 [GRCh38]
Chr12:21639503 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.146G>C (p.Cys49Ser) single nucleotide variant not specified [RCV004331555] Chr12:21491587 [GRCh38]
Chr12:21644521 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.423C>T (p.Ile141=) single nucleotide variant not specified [RCV004331557] Chr12:21486557 [GRCh38]
Chr12:21639491 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1654C>G (p.Gln552Glu) single nucleotide variant not specified [RCV004331560] Chr12:21471441 [GRCh38]
Chr12:21624375 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1676A>C (p.Tyr559Ser) single nucleotide variant not specified [RCV004331561] Chr12:21471090 [GRCh38]
Chr12:21624024 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1090G>T (p.Glu364Ter) single nucleotide variant not specified [RCV004331562] Chr12:21475684 [GRCh38]
Chr12:21628618 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.363_364del (p.Cys122fs) deletion not specified [RCV004331529] Chr12:21490229..21490230 [GRCh38]
Chr12:21643163..21643164 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1576A>G (p.Lys526Glu) single nucleotide variant not specified [RCV004331530] Chr12:21471519 [GRCh38]
Chr12:21624453 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.618A>G (p.Lys206=) single nucleotide variant not specified [RCV004331531] Chr12:21483458 [GRCh38]
Chr12:21636392 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1018C>T (p.His340Tyr) single nucleotide variant not specified [RCV004331533] Chr12:21475756 [GRCh38]
Chr12:21628690 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1194T>C (p.Tyr398=) single nucleotide variant not specified [RCV004331548] Chr12:21475490 [GRCh38]
Chr12:21628424 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1363C>A (p.Arg455Ser) single nucleotide variant not specified [RCV004331549] Chr12:21473635 [GRCh38]
Chr12:21626569 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1304T>A (p.Val435Glu) single nucleotide variant not specified [RCV004331558] Chr12:21474892 [GRCh38]
Chr12:21627826 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.103C>T (p.Leu35Phe) single nucleotide variant not specified [RCV004331559] Chr12:21491630 [GRCh38]
Chr12:21644564 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.897T>G (p.Asp299Glu) single nucleotide variant not specified [RCV004331564] Chr12:21476963 [GRCh38]
Chr12:21629897 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1062C>T (p.Thr354=) single nucleotide variant not specified [RCV004331565] Chr12:21475712 [GRCh38]
Chr12:21628646 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1731T>C (p.Asn577=) single nucleotide variant not provided [RCV001517791]|not specified [RCV000602439] Chr12:21471035 [GRCh38]
Chr12:21623969 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.198C>T (p.Ala66=) single nucleotide variant RECQL-related disorder [RCV003980178]|not provided [RCV002064344]|not specified [RCV000609530] Chr12:21491535 [GRCh38]
Chr12:21644469 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.78A>G (p.Gln26=) single nucleotide variant not provided [RCV001523151]|not specified [RCV002476362] Chr12:21491655 [GRCh38]
Chr12:21644589 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_002907.4(RECQL):c.1446T>C (p.Ser482=) single nucleotide variant not provided [RCV002528661]|not specified [RCV000615928] Chr12:21473552 [GRCh38]
Chr12:21626486 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.993G>A (p.Thr331=) single nucleotide variant not provided [RCV001428885]|not specified [RCV004024982] Chr12:21475781 [GRCh38]
Chr12:21628715 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1590A>G (p.Ala530=) single nucleotide variant RECQL-related disorder [RCV003945525]|not provided [RCV001437274] Chr12:21471505 [GRCh38]
Chr12:21624439 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.867+4T>C single nucleotide variant not provided [RCV001070290]|not specified [RCV000613339] Chr12:21477799 [GRCh38]
Chr12:21630733 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1460A>C (p.Lys487Thr) single nucleotide variant RECON progeroid syndrome [RCV003762811]|not provided [RCV000881520]|not specified [RCV000616609] Chr12:21471635 [GRCh38]
Chr12:21624569 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030657]|Hereditary cancer-predisposing syndrome [RCV000709210]|RECON progeroid syndrome [RCV003762822]|not provided [RCV001514039]|not specified [RCV000616809] Chr12:21475686 [GRCh38]
Chr12:21628620 [GRCh37]
Chr12:12p12.1
benign|likely benign|uncertain significance
NM_002907.4(RECQL):c.1373T>A (p.Met458Lys) single nucleotide variant not specified [RCV004330066] Chr12:21473625 [GRCh38]
Chr12:21626559 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1771A>C (p.Thr591Pro) single nucleotide variant not specified [RCV004330068] Chr12:21470995 [GRCh38]
Chr12:21623929 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395G>A (p.Gly132Asp) single nucleotide variant not specified [RCV004330070] Chr12:21486585 [GRCh38]
Chr12:21639519 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1899A>G (p.Gln633=) single nucleotide variant not provided [RCV001517790]|not specified [RCV000608408] Chr12:21470245 [GRCh38]
Chr12:21623179 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1657C>A (p.Gln553Lys) single nucleotide variant not provided [RCV001488584]|not specified [RCV004024987] Chr12:21471438 [GRCh38]
Chr12:21624372 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709203]|RECON progeroid syndrome [RCV003762812]|RECQL-related disorder [RCV003935642]|not provided [RCV000967767]|not specified [RCV000611851] Chr12:21471612 [GRCh38]
Chr12:21624546 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_002907.4(RECQL):c.1215A>C (p.Ala405=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709209]|RECQL-related disorder [RCV003962815]|not provided [RCV001474212]|not specified [RCV004024986] Chr12:21475469 [GRCh38]
Chr12:21628403 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.304G>A (p.Val102Ile) single nucleotide variant not provided [RCV001514375]|not specified [RCV000605901] Chr12:21490289 [GRCh38]
Chr12:21643223 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1020T>C (p.His340=) single nucleotide variant RECQL-related disorder [RCV003892371]|not provided [RCV001450404]|not specified [RCV004024991] Chr12:21475754 [GRCh38]
Chr12:21628688 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1323T>G (p.Tyr441Ter) single nucleotide variant not provided [RCV000657747]|not specified [RCV004026017] Chr12:21474873 [GRCh38]
Chr12:21627807 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.426del (p.Met144fs) deletion Hereditary cancer-predisposing syndrome [RCV000709220]|not provided [RCV000657361]|not specified [RCV004026001] Chr12:21486554 [GRCh38]
Chr12:21639488 [GRCh37]
Chr12:12p12.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_002907.4(RECQL):c.371A>T (p.Gln124Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709224] Chr12:21490222 [GRCh38]
Chr12:21643156 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr) single nucleotide variant Hereditary cancer [RCV003492147]|not provided [RCV001369296]|not specified [RCV004026776] Chr12:21490207 [GRCh38]
Chr12:21643141 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374530]|Hereditary cancer [RCV003492146]|RECQL-related disorder [RCV003945728]|Seizure [RCV001262455]|not provided [RCV001494287]|not specified [RCV002477639] Chr12:21486579 [GRCh38]
Chr12:21639513 [GRCh37]
Chr12:12p12.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.406G>A (p.Val136Ile) single nucleotide variant Hereditary cancer [RCV003492145]|RECQL-related disorder [RCV003953249]|not provided [RCV001225951]|not specified [RCV004026775] Chr12:21486574 [GRCh38]
Chr12:21639508 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.431T>C (p.Met144Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709219]|not provided [RCV001222574]|not specified [RCV004026774] Chr12:21486549 [GRCh38]
Chr12:21639483 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.487G>T (p.Ala163Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709217] Chr12:21486493 [GRCh38]
Chr12:21639427 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer) deletion Hereditary cancer-predisposing syndrome [RCV000709216]|not specified [RCV004026772] Chr12:21486483..21486487 [GRCh38]
Chr12:21639417..21639421 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.501+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709215]|not provided [RCV001242173] Chr12:21486476 [GRCh38]
Chr12:21639410 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.518T>A (p.Val173Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709214]|RECQL-related disorder [RCV003420267]|not provided [RCV001238161]|not specified [RCV004026771] Chr12:21483558 [GRCh38]
Chr12:21636492 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.676delinsGATGTAGCATGT (p.Gln226fs) indel Hereditary cancer-predisposing syndrome [RCV000709213] Chr12:21483400 [GRCh38]
Chr12:21636334 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.1798-2A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709199]|not provided [RCV004692203]|not specified [RCV004026765] Chr12:21470348 [GRCh38]
Chr12:21623282 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1781C>T (p.Thr594Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709200]|RECON progeroid syndrome [RCV005010712]|not provided [RCV001338101] Chr12:21470985 [GRCh38]
Chr12:21623919 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1750C>T (p.His584Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709201] Chr12:21471016 [GRCh38]
Chr12:21623950 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1694C>G (p.Ala565Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709202] Chr12:21471072 [GRCh38]
Chr12:21624006 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val) single nucleotide variant Hereditary cancer [RCV003492142]|RECON progeroid syndrome [RCV005010713]|not provided [RCV001206987]|not specified [RCV004026766] Chr12:21471630 [GRCh38]
Chr12:21624564 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1382A>G (p.His461Arg) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030655]|Hereditary cancer-predisposing syndrome [RCV000709205]|not provided [RCV001303915]|not specified [RCV004026767] Chr12:21473616 [GRCh38]
Chr12:21626550 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1339T>C (p.Cys447Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709206]|not provided [RCV003727808]|not specified [RCV004857729] Chr12:21474857 [GRCh38]
Chr12:21627791 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1253A>C (p.Tyr418Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709207]|not specified [RCV004026768] Chr12:21474943 [GRCh38]
Chr12:21627877 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1216+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709208]|not provided [RCV002532891] Chr12:21475465 [GRCh38]
Chr12:21628399 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.933A>T (p.Arg311Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709211]|not specified [RCV004026769] Chr12:21476927 [GRCh38]
Chr12:21629861 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.82C>T (p.Leu28Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709227]|not provided [RCV003718278]|not specified [RCV004026779] Chr12:21491651 [GRCh38]
Chr12:21644585 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709226]|RECON progeroid syndrome [RCV003492148]|RECQL-related disorder [RCV003403641]|not provided [RCV001037999]|not specified [RCV004026778] Chr12:21491647 [GRCh38]
Chr12:21644581 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.120dup (p.Val41fs) duplication Hereditary cancer-predisposing syndrome [RCV000709225]|RECON progeroid syndrome [RCV005010714]|not specified [RCV004026777] Chr12:21491612..21491613 [GRCh38]
Chr12:21644546..21644547 [GRCh37]
Chr12:12p12.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) single nucleotide variant Hereditary cancer [RCV003492143]|RECON progeroid syndrome [RCV003492144]|not provided [RCV001230378]|not specified [RCV004026773] Chr12:21486512 [GRCh38]
Chr12:21639446 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709212]|RECQL-related disorder [RCV003403640]|not provided [RCV001036293]|not specified [RCV004026770] Chr12:21477861 [GRCh38]
Chr12:21630795 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1668-160C>T single nucleotide variant not provided [RCV001574954] Chr12:21471258 [GRCh38]
Chr12:21624192 [GRCh37]
Chr12:12p12.1
likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_002907.4(RECQL):c.1798-9_1798-5dup duplication not provided [RCV001547974] Chr12:21470350..21470351 [GRCh38]
Chr12:21623284..21623285 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1448-114del deletion not provided [RCV001648053] Chr12:21471761 [GRCh38]
Chr12:21624695 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.672T>C (p.Cys224=) single nucleotide variant not provided [RCV001576801]|not specified [RCV004039448] Chr12:21483404 [GRCh38]
Chr12:21636338 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.992C>T (p.Thr331Met) single nucleotide variant not provided [RCV001578059]|not specified [RCV004039456] Chr12:21475782 [GRCh38]
Chr12:21628716 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1435T>C (p.Cys479Arg) single nucleotide variant not provided [RCV001570730] Chr12:21473563 [GRCh38]
Chr12:21626497 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1652T>G (p.Ile551Arg) single nucleotide variant not provided [RCV001057420]|not specified [RCV004031810] Chr12:21471443 [GRCh38]
Chr12:21624377 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.788C>T (p.Thr263Met) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030658]|not provided [RCV001776093]|not specified [RCV004030917] Chr12:21477882 [GRCh38]
Chr12:21630816 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.742G>A (p.Ala248Thr) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030659]|not provided [RCV001046741]|not specified [RCV004030918] Chr12:21477928 [GRCh38]
Chr12:21630862 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NC_000012.12:g.21501800C>A single nucleotide variant not provided [RCV001583836] Chr12:21501800 [GRCh38]
Chr12:21654734 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1808C>T (p.Ser603Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986140] Chr12:21470336 [GRCh38]
Chr12:21623270 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395-9C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986154]|not provided [RCV004705994] Chr12:21486594 [GRCh38]
Chr12:21639528 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.192A>C (p.Ser64=) single nucleotide variant not provided [RCV001586395] Chr12:21491541 [GRCh38]
Chr12:21644475 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030660]|RECQL-related disorder [RCV003923055]|not provided [RCV000905173]|not specified [RCV004028556] Chr12:21499569 [GRCh38]
Chr12:21652503 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1649T>A (p.Leu550Gln) single nucleotide variant RECQL-related disorder [RCV003396728]|not provided [RCV001071338]|not specified [RCV004030787] Chr12:21471446 [GRCh38]
Chr12:21624380 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.166G>A (p.Gly56Arg) single nucleotide variant RECON progeroid syndrome [RCV005012526]|not provided [RCV001067259]|not specified [RCV004030645] Chr12:21491567 [GRCh38]
Chr12:21644501 [GRCh37]
Chr12:12p12.1
uncertain significance
NC_000012.12:g.(?_21130388)_(21499570_?)dup duplication not provided [RCV001031548] Chr12:21283322..21652504 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
NM_002907.4(RECQL):c.1540A>C (p.Lys514Gln) single nucleotide variant RECON progeroid syndrome [RCV005012477]|not provided [RCV001047220]|not specified [RCV004031463] Chr12:21471555 [GRCh38]
Chr12:21624489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu) single nucleotide variant not provided [RCV001065944]|not specified [RCV004030593] Chr12:21483432 [GRCh38]
Chr12:21636366 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1360CGT[1] (p.Arg455del) microsatellite RECON progeroid syndrome [RCV005012459]|not provided [RCV001035190]|not specified [RCV004030948] Chr12:21473633..21473635 [GRCh38]
Chr12:21626567..21626569 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_002907.4(RECQL):c.984A>G (p.Glu328=) single nucleotide variant not provided [RCV000827100] Chr12:21475790 [GRCh38]
Chr12:21628724 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-3dup duplication not provided [RCV000954278] Chr12:21470348..21470349 [GRCh38]
Chr12:21623282..21623283 [GRCh37]
Chr12:12p12.1
benign
NM_002907.3(RECQL):c.-586G>T single nucleotide variant not provided [RCV000839372] Chr12:21501710 [GRCh38]
Chr12:21654644 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.-349C>T single nucleotide variant not provided [RCV000839373] Chr12:21501473 [GRCh38]
Chr12:21654407 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.-45-92C>T single nucleotide variant not provided [RCV000839374] Chr12:21499707 [GRCh38]
Chr12:21652641 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.17-17C>T single nucleotide variant not provided [RCV000839375] Chr12:21491733 [GRCh38]
Chr12:21644667 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.868-68dup duplication not provided [RCV000839377] Chr12:21477059..21477060 [GRCh38]
Chr12:21629993..21629994 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.868-61A>G single nucleotide variant not provided [RCV000839378] Chr12:21477053 [GRCh38]
Chr12:21629987 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.949+190A>G single nucleotide variant not provided [RCV000839379] Chr12:21476721 [GRCh38]
Chr12:21629655 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.950-54C>T single nucleotide variant not provided [RCV000839380] Chr12:21475878 [GRCh38]
Chr12:21628812 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.950-33A>G single nucleotide variant not provided [RCV000839381] Chr12:21475857 [GRCh38]
Chr12:21628791 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.135A>G (p.Lys45=) single nucleotide variant not provided [RCV000841328]|not specified [RCV004029231] Chr12:21491598 [GRCh38]
Chr12:21644532 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-240_1798-236del microsatellite not provided [RCV000839467] Chr12:21470582..21470586 [GRCh38]
Chr12:21623516..21623520 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1356-7T>C single nucleotide variant not provided [RCV000828227] Chr12:21473649 [GRCh38]
Chr12:21626583 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_002907.4(RECQL):c.394+94A>G single nucleotide variant not provided [RCV000839403] Chr12:21490105 [GRCh38]
Chr12:21643039 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.-411A>C single nucleotide variant not provided [RCV000839404] Chr12:21501535 [GRCh38]
Chr12:21654469 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.949+169G>T single nucleotide variant not provided [RCV000839405] Chr12:21476742 [GRCh38]
Chr12:21629676 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.501+219A>G single nucleotide variant not provided [RCV000839419] Chr12:21486260 [GRCh38]
Chr12:21639194 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1447+198C>T single nucleotide variant not provided [RCV000839420] Chr12:21473353 [GRCh38]
Chr12:21626287 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.-434G>A single nucleotide variant not provided [RCV000839437] Chr12:21501558 [GRCh38]
Chr12:21654492 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.17-16G>C single nucleotide variant not provided [RCV000839438] Chr12:21491732 [GRCh38]
Chr12:21644666 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.215-169C>A single nucleotide variant not provided [RCV000839439] Chr12:21490547 [GRCh38]
Chr12:21643481 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.942G>C (p.Gly314=) single nucleotide variant not provided [RCV000839482]|not specified [RCV004029220] Chr12:21476918 [GRCh38]
Chr12:21629852 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1536A>T (p.Pro512=) single nucleotide variant not provided [RCV000842006]|not specified [RCV004029234] Chr12:21471559 [GRCh38]
Chr12:21624493 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-11_395-10insC insertion not provided [RCV000842700] Chr12:21486595..21486596 [GRCh38]
Chr12:21639529..21639530 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-2_1798-1del deletion Hereditary cancer-predisposing syndrome [RCV000986142] Chr12:21470347..21470348 [GRCh38]
Chr12:21623281..21623282 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986147]|not provided [RCV001228898]|not specified [RCV004030106] Chr12:21477874 [GRCh38]
Chr12:21630808 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.395-7del deletion Hereditary cancer-predisposing syndrome [RCV000986152] Chr12:21486592 [GRCh38]
Chr12:21639526 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.17-4A>G single nucleotide variant not provided [RCV000838625] Chr12:21491720 [GRCh38]
Chr12:21644654 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1569T>C (p.Gly523=) single nucleotide variant not provided [RCV000827094] Chr12:21471526 [GRCh38]
Chr12:21624460 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.456A>G (p.Lys152=) single nucleotide variant not provided [RCV000840717] Chr12:21486524 [GRCh38]
Chr12:21639458 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1667+53del deletion not provided [RCV000839389] Chr12:21471375 [GRCh38]
Chr12:21624309 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.309A>G (p.Thr103=) single nucleotide variant not provided [RCV000827316]|not specified [RCV004029203] Chr12:21490284 [GRCh38]
Chr12:21643218 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1107G>A (p.Val369=) single nucleotide variant RECQL-related disorder [RCV003908122]|not provided [RCV000827329]|not specified [RCV004029204] Chr12:21475577 [GRCh38]
Chr12:21628511 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.165C>T (p.Ala55=) single nucleotide variant not provided [RCV000827463] Chr12:21491568 [GRCh38]
Chr12:21644502 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.868-220T>C single nucleotide variant not provided [RCV000839376] Chr12:21477212 [GRCh38]
Chr12:21630146 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1216+66C>T single nucleotide variant not provided [RCV000839382] Chr12:21475402 [GRCh38]
Chr12:21628336 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1216+82G>A single nucleotide variant not provided [RCV000839383] Chr12:21475386 [GRCh38]
Chr12:21628320 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1355+30T>C single nucleotide variant not provided [RCV000839384] Chr12:21474811 [GRCh38]
Chr12:21627745 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1447+155G>T single nucleotide variant not provided [RCV000839386] Chr12:21473396 [GRCh38]
Chr12:21626330 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1798-231T>C single nucleotide variant not provided [RCV000839407] Chr12:21470577 [GRCh38]
Chr12:21623511 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.949+76A>G single nucleotide variant not provided [RCV000839436] Chr12:21476835 [GRCh38]
Chr12:21629769 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.-207C>T single nucleotide variant not provided [RCV000839448] Chr12:21501331 [GRCh38]
Chr12:21654265 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.502-103G>C single nucleotide variant not provided [RCV000839472] Chr12:21483677 [GRCh38]
Chr12:21636611 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1539G>A (p.Leu513=) single nucleotide variant not provided [RCV000842425]|not specified [RCV004029240] Chr12:21471556 [GRCh38]
Chr12:21624490 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.417A>G (p.Pro139=) single nucleotide variant not provided [RCV000842697]|not specified [RCV004029244] Chr12:21486563 [GRCh38]
Chr12:21639497 [GRCh37]
Chr12:12p12.1
benign|likely benign
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 copy number loss not provided [RCV000849815] Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
NM_002907.4(RECQL):c.87G>A (p.Thr29=) single nucleotide variant not provided [RCV000840853]|not specified [RCV004029228] Chr12:21491646 [GRCh38]
Chr12:21644580 [GRCh37]
Chr12:12p12.1
benign|likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_002907.4(RECQL):c.701-4del deletion not provided [RCV000842198] Chr12:21477973 [GRCh38]
Chr12:21630907 [GRCh37]
Chr12:12p12.1
benign|likely benign
GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1 copy number loss not provided [RCV000846444] Chr12:19762818..22659824 [GRCh37]
Chr12:12p12.3-12.1
uncertain significance
NM_002907.4(RECQL):c.1548dup (p.Asp517Ter) duplication Hereditary breast ovarian cancer syndrome [RCV001030654]|not specified [RCV004030915] Chr12:21471546..21471547 [GRCh38]
Chr12:21624480..21624481 [GRCh37]
Chr12:12p12.1
likely pathogenic|uncertain significance
NM_002907.4(RECQL):c.1099-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986144] Chr12:21475587 [GRCh38]
Chr12:21628521 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.889A>G (p.Thr297Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986145]|not provided [RCV001367998]|not specified [RCV004030105] Chr12:21476971 [GRCh38]
Chr12:21629905 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.502-10C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986150] Chr12:21483584 [GRCh38]
Chr12:21636518 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.-45-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986159] Chr12:21499616 [GRCh38]
Chr12:21652550 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.73A>T (p.Ile25Phe) single nucleotide variant not provided [RCV001059151] Chr12:21491660 [GRCh38]
Chr12:21644594 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.393T>C (p.Asp131=) single nucleotide variant not provided [RCV000827261]|not specified [RCV004029201] Chr12:21490200 [GRCh38]
Chr12:21643134 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1146T>C (p.Asp382=) single nucleotide variant not provided [RCV000840991]|not specified [RCV004029229] Chr12:21475538 [GRCh38]
Chr12:21628472 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1530C>G (p.Leu510=) single nucleotide variant not provided [RCV000827065]|not specified [RCV004029198] Chr12:21471565 [GRCh38]
Chr12:21624499 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1797+14_1797+17del deletion not provided [RCV000839406] Chr12:21470952..21470955 [GRCh38]
Chr12:21623886..21623889 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1355+103G>C single nucleotide variant not provided [RCV000839385] Chr12:21474738 [GRCh38]
Chr12:21627672 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1355+218T>G single nucleotide variant not provided [RCV000839387] Chr12:21474623 [GRCh38]
Chr12:21627557 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1447+161T>G single nucleotide variant not provided [RCV000839388] Chr12:21473390 [GRCh38]
Chr12:21626324 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1667+53T>A single nucleotide variant not provided [RCV000839390] Chr12:21471375 [GRCh38]
Chr12:21624309 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.833C>G (p.Thr278Arg) single nucleotide variant not provided [RCV000839401]|not specified [RCV004029219] Chr12:21477837 [GRCh38]
Chr12:21630771 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1448-157_1448-152del deletion not provided [RCV000839421] Chr12:21471799..21471804 [GRCh38]
Chr12:21624733..21624738 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.17-172C>T single nucleotide variant not provided [RCV000839422] Chr12:21491888 [GRCh38]
Chr12:21644822 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1798-4G>T single nucleotide variant not provided [RCV000839432] Chr12:21470350 [GRCh38]
Chr12:21623284 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_002907.4(RECQL):c.1077A>G (p.Lys359=) single nucleotide variant not provided [RCV000842676]|not specified [RCV004029243] Chr12:21475697 [GRCh38]
Chr12:21628631 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1801G>T (p.Glu601Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986141] Chr12:21470343 [GRCh38]
Chr12:21623277 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.501+15C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986151] Chr12:21486464 [GRCh38]
Chr12:21639398 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1752T>G (p.His584Gln) single nucleotide variant not provided [RCV001231475]|not specified [RCV004033126] Chr12:21471014 [GRCh38]
Chr12:21623948 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1361G>A (p.Arg454His) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030656]|not provided [RCV001372825]|not specified [RCV004030916] Chr12:21473637 [GRCh38]
Chr12:21626571 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.675_676insGATGTAG (p.Gln226fs) insertion Hereditary cancer-predisposing syndrome [RCV000986149] Chr12:21483400..21483401 [GRCh38]
Chr12:21636334..21636335 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.292G>T (p.Glu98Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986155]|not specified [RCV004669182] Chr12:21490301 [GRCh38]
Chr12:21643235 [GRCh37]
Chr12:12p12.1
likely pathogenic|uncertain significance
NM_002907.4(RECQL):c.1210C>T (p.Arg404Cys) single nucleotide variant not provided [RCV001213941]|not specified [RCV004033918] Chr12:21475474 [GRCh38]
Chr12:21628408 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1098+1G>A single nucleotide variant not provided [RCV001242478] Chr12:21475675 [GRCh38]
Chr12:21628609 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1855A>C (p.Asn619His) single nucleotide variant not provided [RCV001227239]|not specified [RCV004601409] Chr12:21470289 [GRCh38]
Chr12:21623223 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1889T>C (p.Met630Thr) single nucleotide variant not provided [RCV001224629] Chr12:21470255 [GRCh38]
Chr12:21623189 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1676A>G (p.Tyr559Cys) single nucleotide variant not provided [RCV001239508]|not specified [RCV004034617] Chr12:21471090 [GRCh38]
Chr12:21624024 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.813T>A (p.Ile271=) single nucleotide variant not provided [RCV001241174]|not specified [RCV004034673] Chr12:21477857 [GRCh38]
Chr12:21630791 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.407T>C (p.Val136Ala) single nucleotide variant not provided [RCV001237518]|not specified [RCV004034555] Chr12:21486573 [GRCh38]
Chr12:21639507 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1856dup (p.Asn619fs) duplication not provided [RCV001232051]|not specified [RCV004033144] Chr12:21470287..21470288 [GRCh38]
Chr12:21623221..21623222 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr) single nucleotide variant RECQL-related disorder [RCV003414044]|not provided [RCV001240656]|not specified [RCV004034655] Chr12:21475812 [GRCh38]
Chr12:21628746 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1588G>A (p.Ala530Thr) single nucleotide variant not provided [RCV001210323]|not specified [RCV004033794] Chr12:21471507 [GRCh38]
Chr12:21624441 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1270T>G (p.Phe424Val) single nucleotide variant not provided [RCV001210129]|not specified [RCV004033790] Chr12:21474926 [GRCh38]
Chr12:21627860 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.583G>T (p.Ala195Ser) single nucleotide variant not provided [RCV001210616]|not specified [RCV004033798] Chr12:21483493 [GRCh38]
Chr12:21636427 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer) deletion not provided [RCV001225633]|not specified [RCV004032543] Chr12:21491598..21491601 [GRCh38]
Chr12:21644532..21644535 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1447+4A>G single nucleotide variant not provided [RCV001230877] Chr12:21473547 [GRCh38]
Chr12:21626481 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1922C>T (p.Ala641Val) single nucleotide variant not provided [RCV001242417]|not specified [RCV004034714] Chr12:21470222 [GRCh38]
Chr12:21623156 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1798-2_1798-1insT insertion Hereditary cancer-predisposing syndrome [RCV000986143] Chr12:21470347..21470348 [GRCh38]
Chr12:21623281..21623282 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395-7C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986153] Chr12:21486592 [GRCh38]
Chr12:21639526 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.214+6C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986157] Chr12:21491513 [GRCh38]
Chr12:21644447 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.267G>A (p.Leu89=) single nucleotide variant RECON progeroid syndrome [RCV005012686]|not provided [RCV001247963]|not specified [RCV004034912] Chr12:21490326 [GRCh38]
Chr12:21643260 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.376C>T (p.Pro126Ser) single nucleotide variant not provided [RCV001212047]|not specified [RCV004033842] Chr12:21490217 [GRCh38]
Chr12:21643151 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395-76_395-73del deletion Hereditary cancer [RCV004698963] Chr12:21486658..21486661 [GRCh38]
Chr12:21639592..21639595 [GRCh37]
Chr12:12p12.1
likely benign
NC_000012.11:g.(?_20522219)_(22089608_?)dup duplication not provided [RCV003105374] Chr12:20522219..22089608 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
NM_002907.4(RECQL):c.1798-8_1798-5dup duplication not provided [RCV001549693] Chr12:21470350..21470351 [GRCh38]
Chr12:21623284..21623285 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.-215C>T single nucleotide variant not provided [RCV001567197] Chr12:21501339 [GRCh38]
Chr12:21654273 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1098+6del deletion not provided [RCV001560467] Chr12:21475670 [GRCh38]
Chr12:21628604 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_002907.4(RECQL):c.1798-5dup duplication not provided [RCV001616877] Chr12:21470350..21470351 [GRCh38]
Chr12:21623284..21623285 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.950-83T>C single nucleotide variant not provided [RCV001576328] Chr12:21475907 [GRCh38]
Chr12:21628841 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-73A>G single nucleotide variant not provided [RCV001597791] Chr12:21486658 [GRCh38]
Chr12:21639592 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.*1T>G single nucleotide variant not provided [RCV001588721] Chr12:21470193 [GRCh38]
Chr12:21623127 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1355+250G>A single nucleotide variant not provided [RCV001569136] Chr12:21474591 [GRCh38]
Chr12:21627525 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-13T>C single nucleotide variant not provided [RCV001556178] Chr12:21470359 [GRCh38]
Chr12:21623293 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.-476C>G single nucleotide variant not provided [RCV001545486] Chr12:21501600 [GRCh38]
Chr12:21654534 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1741A>G (p.Asn581Asp) single nucleotide variant RECON progeroid syndrome [RCV005005981]|not provided [RCV001592028]|not specified [RCV004039515] Chr12:21471025 [GRCh38]
Chr12:21623959 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395-71dup duplication not provided [RCV001616291] Chr12:21486655..21486656 [GRCh38]
Chr12:21639589..21639590 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.-421_-407del deletion not provided [RCV001657412] Chr12:21501531..21501545 [GRCh38]
Chr12:21654465..21654479 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.215-86G>A single nucleotide variant not provided [RCV001581353] Chr12:21490464 [GRCh38]
Chr12:21643398 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.-46+51A>G single nucleotide variant not provided [RCV001565380] Chr12:21501119 [GRCh38]
Chr12:21654053 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-18T>A single nucleotide variant not provided [RCV001657596] Chr12:21470364 [GRCh38]
Chr12:21623298 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.214+22_214+24del deletion not provided [RCV001575729] Chr12:21491495..21491497 [GRCh38]
Chr12:21644429..21644431 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-5del deletion not provided [RCV001670367] Chr12:21470351 [GRCh38]
Chr12:21623285 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.*201A>G single nucleotide variant not provided [RCV001635643] Chr12:21469993 [GRCh38]
Chr12:21622927 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1633A>T (p.Ile545Phe) single nucleotide variant not provided [RCV001218299]|not specified [RCV004034065] Chr12:21471462 [GRCh38]
Chr12:21624396 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.643C>T (p.Arg215Ter) single nucleotide variant not provided [RCV001244458]|not specified [RCV004034782] Chr12:21483433 [GRCh38]
Chr12:21636367 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.760A>G (p.Thr254Ala) single nucleotide variant RECQL-related disorder [RCV004751924]|not provided [RCV001218942]|not specified [RCV004032342] Chr12:21477910 [GRCh38]
Chr12:21630844 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1489dup (p.Ile497fs) duplication RECON progeroid syndrome [RCV005012595]|RECQL-related disorder [RCV004751913]|not provided [RCV001203611]|not specified [RCV004033579] Chr12:21471605..21471606 [GRCh38]
Chr12:21624539..21624540 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.10G>A (p.Val4Ile) single nucleotide variant RECON progeroid syndrome [RCV005012669]|not provided [RCV001239886]|not specified [RCV004034630] Chr12:21499561 [GRCh38]
Chr12:21652495 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1675T>A (p.Tyr559Asn) single nucleotide variant RECQL-related disorder [RCV003398976]|not provided [RCV001227481]|not specified [RCV004032601] Chr12:21471091 [GRCh38]
Chr12:21624025 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.766A>G (p.Thr256Ala) single nucleotide variant not provided [RCV001240022]|not specified [RCV004034636] Chr12:21477904 [GRCh38]
Chr12:21630838 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1532C>T (p.Thr511Ile) single nucleotide variant not provided [RCV001209149]|not specified [RCV004033756] Chr12:21471563 [GRCh38]
Chr12:21624497 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1667_1667+3del deletion not provided [RCV001056587]|not specified [RCV003493788] Chr12:21471425..21471428 [GRCh38]
Chr12:21624359..21624362 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1732C>T (p.Leu578Phe) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001030653]|not provided [RCV004998579]|not specified [RCV004030914] Chr12:21471034 [GRCh38]
Chr12:21623968 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1239C>G (p.Asp413Glu) single nucleotide variant not provided [RCV001206368]|not specified [RCV004033669] Chr12:21474957 [GRCh38]
Chr12:21627891 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.700+3A>G single nucleotide variant not provided [RCV001058947] Chr12:21483373 [GRCh38]
Chr12:21636307 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1353_1355+1del deletion not provided [RCV001241896]|not specified [RCV004034697] Chr12:21474840..21474843 [GRCh38]
Chr12:21627774..21627777 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1817G>T (p.Cys606Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986139] Chr12:21470327 [GRCh38]
Chr12:21623261 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.868-10T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986146]|not provided [RCV001327264] Chr12:21477002 [GRCh38]
Chr12:21629936 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.677_678insTGTA (p.Gln226fs) insertion Hereditary cancer-predisposing syndrome [RCV000986148] Chr12:21483398..21483399 [GRCh38]
Chr12:21636332..21636333 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.215-20_223del deletion Hereditary cancer-predisposing syndrome [RCV000986156] Chr12:21490370..21490398 [GRCh38]
Chr12:21643304..21643332 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.17-15C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986158] Chr12:21491731 [GRCh38]
Chr12:21644665 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.-67T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000986160] Chr12:21501191 [GRCh38]
Chr12:21654125 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.533T>A (p.Val178Glu) single nucleotide variant not provided [RCV001577483]|not specified [RCV004039452] Chr12:21483543 [GRCh38]
Chr12:21636477 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1668-81G>A single nucleotide variant not provided [RCV001570299] Chr12:21471179 [GRCh38]
Chr12:21624113 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-133_395-126dup duplication not provided [RCV001558483] Chr12:21486710..21486711 [GRCh38]
Chr12:21639644..21639645 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.214+7_214+8dup duplication not provided [RCV001552995] Chr12:21491494..21491495 [GRCh38]
Chr12:21644428..21644429 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.-45-4T>C single nucleotide variant not provided [RCV001586778] Chr12:21499619 [GRCh38]
Chr12:21652553 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.868-118G>A single nucleotide variant not provided [RCV001565676] Chr12:21477110 [GRCh38]
Chr12:21630044 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-12_1798-11insTTG insertion not provided [RCV001555662] Chr12:21470357..21470358 [GRCh38]
Chr12:21623291..21623292 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.868-89T>C single nucleotide variant not provided [RCV001596836] Chr12:21477081 [GRCh38]
Chr12:21630015 [GRCh37]
Chr12:12p12.1
benign
GRCh37/hg19 12p12.1(chr12:21567572-21623649)x1 copy number loss not provided [RCV001006491] Chr12:21567572..21623649 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395-72C>G single nucleotide variant not provided [RCV001660891] Chr12:21486657 [GRCh38]
Chr12:21639591 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.395-345G>A single nucleotide variant not provided [RCV001688466] Chr12:21486930 [GRCh38]
Chr12:21639864 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.395-210G>A single nucleotide variant not provided [RCV001593578] Chr12:21486795 [GRCh38]
Chr12:21639729 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.867+288A>G single nucleotide variant not provided [RCV001653362] Chr12:21477515 [GRCh38]
Chr12:21630449 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1798-7_1798-5dup duplication not provided [RCV001676913] Chr12:21470350..21470351 [GRCh38]
Chr12:21623284..21623285 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.*306A>G single nucleotide variant not provided [RCV001598517] Chr12:21469888 [GRCh38]
Chr12:21622822 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1268T>C (p.Ile423Thr) single nucleotide variant not provided [RCV001659002]|not specified [RCV004039563] Chr12:21474928 [GRCh38]
Chr12:21627862 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1906T>G (p.Ser636Ala) single nucleotide variant not provided [RCV001057278] Chr12:21470238 [GRCh38]
Chr12:21623172 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.789G>A (p.Thr263=) single nucleotide variant not provided [RCV001059119]|not specified [RCV004031865] Chr12:21477881 [GRCh38]
Chr12:21630815 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1364G>C (p.Arg455Pro) single nucleotide variant not provided [RCV001059370]|not specified [RCV004031878] Chr12:21473634 [GRCh38]
Chr12:21626568 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.214+7dup duplication not provided [RCV001680674] Chr12:21491494..21491495 [GRCh38]
Chr12:21644428..21644429 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1364G>A (p.Arg455His) single nucleotide variant not provided [RCV001062166]|not specified [RCV004030449] Chr12:21473634 [GRCh38]
Chr12:21626568 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1798-6_1798-5dup duplication not provided [RCV001667042] Chr12:21470350..21470351 [GRCh38]
Chr12:21623284..21623285 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.215-286G>A single nucleotide variant not provided [RCV001588632] Chr12:21490664 [GRCh38]
Chr12:21643598 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.949+113A>G single nucleotide variant not provided [RCV001684563] Chr12:21476798 [GRCh38]
Chr12:21629732 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.17-76C>T single nucleotide variant not provided [RCV001652506] Chr12:21491792 [GRCh38]
Chr12:21644726 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.215-234A>T single nucleotide variant not provided [RCV001581273] Chr12:21490612 [GRCh38]
Chr12:21643546 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.*382G>A single nucleotide variant not provided [RCV001540269] Chr12:21469812 [GRCh38]
Chr12:21622746 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.*192T>C single nucleotide variant not provided [RCV001567299] Chr12:21470002 [GRCh38]
Chr12:21622936 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1040A>G (p.Asn347Ser) single nucleotide variant not provided [RCV001207323]|not specified [RCV004033697] Chr12:21475734 [GRCh38]
Chr12:21628668 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.394+6T>C single nucleotide variant not provided [RCV001234318] Chr12:21490193 [GRCh38]
Chr12:21643127 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1876_1877delinsGC (p.Lys626Ala) indel not provided [RCV001048327] Chr12:21470267..21470268 [GRCh38]
Chr12:21623201..21623202 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.678G>T (p.Gln226His) single nucleotide variant not provided [RCV001206407]|not specified [RCV004033671] Chr12:21483398 [GRCh38]
Chr12:21636332 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.898T>A (p.Phe300Ile) single nucleotide variant not provided [RCV001051549]|not specified [RCV004031605] Chr12:21476962 [GRCh38]
Chr12:21629896 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1138A>T (p.Lys380Ter) single nucleotide variant not provided [RCV001209063]|not specified [RCV004033754] Chr12:21475546 [GRCh38]
Chr12:21628480 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.644G>A (p.Arg215Gln) single nucleotide variant not provided [RCV001235062]|not specified [RCV004033269] Chr12:21483432 [GRCh38]
Chr12:21636366 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.907G>T (p.Asp303Tyr) single nucleotide variant not provided [RCV001232260]|not specified [RCV004033159] Chr12:21476953 [GRCh38]
Chr12:21629887 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.872G>A (p.Arg291Gln) single nucleotide variant not provided [RCV001045548]|not specified [RCV004031401] Chr12:21476988 [GRCh38]
Chr12:21629922 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.610C>A (p.Leu204Ile) single nucleotide variant not provided [RCV001236388]|not specified [RCV004033309] Chr12:21483466 [GRCh38]
Chr12:21636400 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.547G>A (p.Glu183Lys) single nucleotide variant not provided [RCV001213114]|not specified [RCV004033875] Chr12:21483529 [GRCh38]
Chr12:21636463 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.839C>A (p.Ser280Tyr) single nucleotide variant not provided [RCV001210815]|not specified [RCV004033805] Chr12:21477831 [GRCh38]
Chr12:21630765 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1241G>A (p.Cys414Tyr) single nucleotide variant RECQL-related disorder [RCV004751875]|not provided [RCV001067972]|not specified [RCV004030660] Chr12:21474955 [GRCh38]
Chr12:21627889 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1213G>A (p.Ala405Thr) single nucleotide variant not provided [RCV001038177] Chr12:21475471 [GRCh38]
Chr12:21628405 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1285A>G (p.Met429Val) single nucleotide variant not provided [RCV001341866]|not specified [RCV001002329] Chr12:21474911 [GRCh38]
Chr12:21627845 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.245T>C (p.Ile82Thr) single nucleotide variant not provided [RCV001229410]|not specified [RCV004032667] Chr12:21490348 [GRCh38]
Chr12:21643282 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1355+1G>A single nucleotide variant not provided [RCV001211316] Chr12:21474840 [GRCh38]
Chr12:21627774 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1 copy number loss not provided [RCV001258515] Chr12:21582333..24920271 [GRCh37]
Chr12:12p12.1
pathogenic
NM_002907.4(RECQL):c.1831G>A (p.Gly611Ser) single nucleotide variant not provided [RCV001349422] Chr12:21470313 [GRCh38]
Chr12:21623247 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1215A>T (p.Ala405=) single nucleotide variant not provided [RCV001303344] Chr12:21475469 [GRCh38]
Chr12:21628403 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.370C>T (p.Gln124Ter) single nucleotide variant not provided [RCV001306791] Chr12:21490223 [GRCh38]
Chr12:21643157 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1674C>G (p.Asp558Glu) single nucleotide variant not provided [RCV001327812]|not specified [RCV004035256] Chr12:21471092 [GRCh38]
Chr12:21624026 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1780A>T (p.Thr594Ser) single nucleotide variant not provided [RCV001295261]|not specified [RCV004035638] Chr12:21470986 [GRCh38]
Chr12:21623920 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1742A>G (p.Asn581Ser) single nucleotide variant not provided [RCV001338563]|not specified [RCV004599258] Chr12:21471024 [GRCh38]
Chr12:21623958 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NC_000012.11:g.(?_21620458)_(21629936_?)dup duplication not provided [RCV001338733] Chr12:21620458..21629936 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1057A>G (p.Lys353Glu) single nucleotide variant not provided [RCV001325228]|not specified [RCV004035152] Chr12:21475717 [GRCh38]
Chr12:21628651 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1805C>T (p.Ser602Leu) single nucleotide variant RECON progeroid syndrome [RCV005012743]|not provided [RCV001301839]|not specified [RCV004036219] Chr12:21470339 [GRCh38]
Chr12:21623273 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.773C>A (p.Thr258Lys) single nucleotide variant not provided [RCV001341523] Chr12:21477897 [GRCh38]
Chr12:21630831 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1240T>C (p.Cys414Arg) single nucleotide variant not provided [RCV001314692]|not specified [RCV004034323] Chr12:21474956 [GRCh38]
Chr12:21627890 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1159_1160insG (p.Ile387fs) insertion not provided [RCV001315333] Chr12:21475524..21475525 [GRCh38]
Chr12:21628458..21628459 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1448C>A (p.Ala483Glu) single nucleotide variant not provided [RCV001298885]|not specified [RCV004036119] Chr12:21471647 [GRCh38]
Chr12:21624581 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.299T>C (p.Ile100Thr) single nucleotide variant not provided [RCV001320887] Chr12:21490294 [GRCh38]
Chr12:21643228 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.480G>A (p.Met160Ile) single nucleotide variant not provided [RCV001339637]|not specified [RCV004035908] Chr12:21486500 [GRCh38]
Chr12:21639434 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.871C>T (p.Arg291Trp) single nucleotide variant not provided [RCV001298255]|not specified [RCV004036097] Chr12:21476989 [GRCh38]
Chr12:21629923 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1763T>A (p.Met588Lys) single nucleotide variant not provided [RCV001299768]|not specified [RCV004036150] Chr12:21471003 [GRCh38]
Chr12:21623937 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1255G>A (p.Gly419Ser) single nucleotide variant not provided [RCV001297402]|not specified [RCV004036069] Chr12:21474941 [GRCh38]
Chr12:21627875 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.76C>T (p.Gln26Ter) single nucleotide variant not provided [RCV001338129]|not specified [RCV004035856] Chr12:21491657 [GRCh38]
Chr12:21644591 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1355+5_1355+10del deletion not provided [RCV001309806] Chr12:21474831..21474836 [GRCh38]
Chr12:21627765..21627770 [GRCh37]
Chr12:12p12.1
uncertain significance
NC_000012.11:g.(?_21283322)_(21652504_?)dup duplication not provided [RCV001324548] Chr12:21283322..21652504 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
NM_002907.4(RECQL):c.395-3T>G single nucleotide variant not provided [RCV001337654] Chr12:21486588 [GRCh38]
Chr12:21639522 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.303C>T (p.Asn101=) single nucleotide variant RECQL-related disorder [RCV003938659]|not provided [RCV001392822]|not specified [RCV004037729] Chr12:21490290 [GRCh38]
Chr12:21643224 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1039A>C (p.Asn347His) single nucleotide variant not provided [RCV001295507]|not specified [RCV004035648] Chr12:21475735 [GRCh38]
Chr12:21628669 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.502-18A>G single nucleotide variant not provided [RCV001813171] Chr12:21483592 [GRCh38]
Chr12:21636526 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1476C>G (p.Tyr492Ter) single nucleotide variant not provided [RCV001369647]|not specified [RCV004037088] Chr12:21471619 [GRCh38]
Chr12:21624553 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.249G>C (p.Leu83=) single nucleotide variant not provided [RCV001397177]|not specified [RCV004037778] Chr12:21490344 [GRCh38]
Chr12:21643278 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1616G>A (p.Arg539His) single nucleotide variant not provided [RCV001307600]|not specified [RCV004034130] Chr12:21471479 [GRCh38]
Chr12:21624413 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.152A>G (p.Glu51Gly) single nucleotide variant not provided [RCV001360044]|not specified [RCV004036752] Chr12:21491581 [GRCh38]
Chr12:21644515 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1703C>T (p.Ser568Leu) single nucleotide variant not provided [RCV001372826]|not specified [RCV004037545] Chr12:21471063 [GRCh38]
Chr12:21623997 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1798-5T>G single nucleotide variant not provided [RCV001373444] Chr12:21470351 [GRCh38]
Chr12:21623285 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.15A>G (p.Ser5=) single nucleotide variant not provided [RCV001371734]|not specified [RCV004037513] Chr12:21499556 [GRCh38]
Chr12:21652490 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys) single nucleotide variant not provided [RCV001433752]|not specified [RCV004038322] Chr12:21471434 [GRCh38]
Chr12:21624368 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_002907.4(RECQL):c.829T>A (p.Phe277Ile) single nucleotide variant not provided [RCV001294917] Chr12:21477841 [GRCh38]
Chr12:21630775 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1696A>G (p.Thr566Ala) single nucleotide variant not provided [RCV001308617]|not specified [RCV004034175] Chr12:21471070 [GRCh38]
Chr12:21624004 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1447+3_1447+6del deletion not provided [RCV001371146] Chr12:21473545..21473548 [GRCh38]
Chr12:21626479..21626482 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.728G>A (p.Arg243Gln) single nucleotide variant not provided [RCV001373690]|not specified [RCV004037584] Chr12:21477942 [GRCh38]
Chr12:21630876 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.160G>C (p.Asp54His) single nucleotide variant not provided [RCV001364133]|not specified [RCV004036901] Chr12:21491573 [GRCh38]
Chr12:21644507 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1355+10A>G single nucleotide variant not provided [RCV001364784] Chr12:21474831 [GRCh38]
Chr12:21627765 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1216+2T>C single nucleotide variant not provided [RCV001339761] Chr12:21475466 [GRCh38]
Chr12:21628400 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1939G>A (p.Asp647Asn) single nucleotide variant RECON progeroid syndrome [RCV005012754]|not provided [RCV001309520] Chr12:21470205 [GRCh38]
Chr12:21623139 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1877A>G (p.Lys626Arg) single nucleotide variant not provided [RCV001358456]|not specified [RCV004034502] Chr12:21470267 [GRCh38]
Chr12:21623201 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.235G>A (p.Val79Ile) single nucleotide variant not provided [RCV001306642]|not specified [RCV004034103] Chr12:21490358 [GRCh38]
Chr12:21643292 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1930A>G (p.Arg644Gly) single nucleotide variant not provided [RCV001343902] Chr12:21470214 [GRCh38]
Chr12:21623148 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1217-3C>T single nucleotide variant not provided [RCV001352312] Chr12:21474982 [GRCh38]
Chr12:21627916 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395-6T>G single nucleotide variant not provided [RCV001318966] Chr12:21486591 [GRCh38]
Chr12:21639525 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.149T>C (p.Leu50Ser) single nucleotide variant not provided [RCV001300638]|not specified [RCV004036178] Chr12:21491584 [GRCh38]
Chr12:21644518 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1426G>A (p.Asp476Asn) single nucleotide variant not provided [RCV001346257]|not specified [RCV004036487] Chr12:21473572 [GRCh38]
Chr12:21626506 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.701A>G (p.Asp234Gly) single nucleotide variant not provided [RCV001363364]|not specified [RCV004036877] Chr12:21477969 [GRCh38]
Chr12:21630903 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1798-2A>C single nucleotide variant not provided [RCV001369764] Chr12:21470348 [GRCh38]
Chr12:21623282 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.700+4T>A single nucleotide variant RECQL-related disorder [RCV003938627]|not provided [RCV001317901] Chr12:21483372 [GRCh38]
Chr12:21636306 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.160G>A (p.Asp54Asn) single nucleotide variant not provided [RCV001322346]|not specified [RCV004601456] Chr12:21491573 [GRCh38]
Chr12:21644507 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.622T>C (p.Tyr208His) single nucleotide variant not provided [RCV001345287]|not specified [RCV004036453] Chr12:21483454 [GRCh38]
Chr12:21636388 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.867+3A>T single nucleotide variant RECON progeroid syndrome [RCV005005895]|RECQL-related disorder [RCV003399184]|not provided [RCV001372764] Chr12:21477800 [GRCh38]
Chr12:21630734 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1679G>A (p.Ser560Asn) single nucleotide variant not provided [RCV001299397]|not specified [RCV004036135] Chr12:21471087 [GRCh38]
Chr12:21624021 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.127A>G (p.Thr43Ala) single nucleotide variant not provided [RCV001299399] Chr12:21491606 [GRCh38]
Chr12:21644540 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.199G>A (p.Ala67Thr) single nucleotide variant not provided [RCV001302355]|not specified [RCV004036235] Chr12:21491534 [GRCh38]
Chr12:21644468 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.991A>C (p.Thr331Pro) single nucleotide variant not provided [RCV001302378] Chr12:21475783 [GRCh38]
Chr12:21628717 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.430A>G (p.Met144Val) single nucleotide variant not provided [RCV001363555]|not specified [RCV004036887] Chr12:21486550 [GRCh38]
Chr12:21639484 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1651A>G (p.Ile551Val) single nucleotide variant not provided [RCV001324858]|not specified [RCV004035140] Chr12:21471444 [GRCh38]
Chr12:21624378 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1181C>T (p.Ser394Phe) single nucleotide variant not provided [RCV001321010]|not specified [RCV004035023] Chr12:21475503 [GRCh38]
Chr12:21628437 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1171A>G (p.Met391Val) single nucleotide variant not provided [RCV001322456]|not specified [RCV004035069] Chr12:21475513 [GRCh38]
Chr12:21628447 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.493A>T (p.Ser165Cys) single nucleotide variant not provided [RCV001344413]|not specified [RCV004036424] Chr12:21486487 [GRCh38]
Chr12:21639421 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.960_961insATA (p.Tyr320_Cys321insIle) insertion not provided [RCV001347891] Chr12:21475813..21475814 [GRCh38]
Chr12:21628747..21628748 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1694C>T (p.Ala565Val) single nucleotide variant not provided [RCV001350670]|not specified [RCV004036632] Chr12:21471072 [GRCh38]
Chr12:21624006 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1847A>G (p.Glu616Gly) single nucleotide variant not provided [RCV001317375] Chr12:21470297 [GRCh38]
Chr12:21623231 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.320A>G (p.Lys107Arg) single nucleotide variant not provided [RCV001321245]|not specified [RCV004035028] Chr12:21490273 [GRCh38]
Chr12:21643207 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.115A>C (p.Lys39Gln) single nucleotide variant not provided [RCV001373325]|not specified [RCV004037566] Chr12:21491618 [GRCh38]
Chr12:21644552 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1711A>G (p.Lys571Glu) single nucleotide variant not provided [RCV001340388] Chr12:21471055 [GRCh38]
Chr12:21623989 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.169del (p.Ala57fs) deletion not provided [RCV001301148]|not specified [RCV004036195] Chr12:21491564 [GRCh38]
Chr12:21644498 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.8_11del (p.Ser3fs) deletion not provided [RCV001305433] Chr12:21499560..21499563 [GRCh38]
Chr12:21652494..21652497 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.974_977del (p.Lys325fs) deletion not provided [RCV001366886] Chr12:21475797..21475800 [GRCh38]
Chr12:21628731..21628734 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1375G>T (p.Ala459Ser) single nucleotide variant RECON progeroid syndrome [RCV003226451]|Short stature [RCV001271096]|not specified [RCV004035290] Chr12:21473623 [GRCh38]
Chr12:21626557 [GRCh37]
Chr12:12p12.1
pathogenic|uncertain significance
NM_002907.4(RECQL):c.780C>T (p.His260=) single nucleotide variant not provided [RCV001414239]|not specified [RCV004038112] Chr12:21477890 [GRCh38]
Chr12:21630824 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1237G>C (p.Asp413His) single nucleotide variant not provided [RCV001327750]|not specified [RCV004035255] Chr12:21474959 [GRCh38]
Chr12:21627893 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1087A>G (p.Asn363Asp) single nucleotide variant not provided [RCV001303377] Chr12:21475687 [GRCh38]
Chr12:21628621 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.283C>T (p.Leu95Phe) single nucleotide variant not provided [RCV001316990]|not specified [RCV004034409] Chr12:21490310 [GRCh38]
Chr12:21643244 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.341C>T (p.Pro114Leu) single nucleotide variant not provided [RCV001365472] Chr12:21490252 [GRCh38]
Chr12:21643186 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1586T>C (p.Val529Ala) single nucleotide variant not provided [RCV001312819]|not specified [RCV004034267] Chr12:21471509 [GRCh38]
Chr12:21624443 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.338T>C (p.Met113Thr) single nucleotide variant not provided [RCV001337404]|not specified [RCV004035832] Chr12:21490255 [GRCh38]
Chr12:21643189 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.921C>T (p.Leu307=) single nucleotide variant not provided [RCV001394638]|not specified [RCV004037752] Chr12:21476939 [GRCh38]
Chr12:21629873 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1949G>A (p.Ter650=) single nucleotide variant not provided [RCV001454480] Chr12:21470195 [GRCh38]
Chr12:21623129 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-11_395-10del deletion not provided [RCV001519294] Chr12:21486595..21486596 [GRCh38]
Chr12:21639529..21639530 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.768T>C (p.Thr256=) single nucleotide variant not provided [RCV001458001]|not specified [RCV004038564] Chr12:21477902 [GRCh38]
Chr12:21630836 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.414C>T (p.Cys138=) single nucleotide variant not provided [RCV001504732] Chr12:21486566 [GRCh38]
Chr12:21639500 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-22_395-19dup duplication not provided [RCV001519489]|not specified [RCV002476825] Chr12:21486594..21486595 [GRCh38]
Chr12:21639528..21639529 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_002907.4(RECQL):c.57T>C (p.His19=) single nucleotide variant not provided [RCV001476254] Chr12:21491676 [GRCh38]
Chr12:21644610 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.741C>T (p.Asn247=) single nucleotide variant RECQL-related disorder [RCV003946235]|not provided [RCV001475580] Chr12:21477929 [GRCh38]
Chr12:21630863 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1782G>A (p.Thr594=) single nucleotide variant not provided [RCV001499758]|not specified [RCV004037402] Chr12:21470984 [GRCh38]
Chr12:21623918 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-10del deletion not provided [RCV001512348] Chr12:21486595 [GRCh38]
Chr12:21639529 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.372G>A (p.Gln124=) single nucleotide variant not provided [RCV001481167] Chr12:21490221 [GRCh38]
Chr12:21643155 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-22dup duplication not provided [RCV001518349] Chr12:21486594..21486595 [GRCh38]
Chr12:21639528..21639529 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1254C>T (p.Tyr418=) single nucleotide variant not provided [RCV001471239]|not specified [RCV004037109] Chr12:21474942 [GRCh38]
Chr12:21627876 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1425C>T (p.Cys475=) single nucleotide variant not provided [RCV001427148]|not specified [RCV004038244] Chr12:21473573 [GRCh38]
Chr12:21626507 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1809T>C (p.Ser603=) single nucleotide variant not provided [RCV001537589]|not specified [RCV004039244] Chr12:21470335 [GRCh38]
Chr12:21623269 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-4T>C single nucleotide variant not provided [RCV001441144] Chr12:21486589 [GRCh38]
Chr12:21639523 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1734T>G (p.Leu578=) single nucleotide variant not provided [RCV001407085]|not specified [RCV004038021] Chr12:21471032 [GRCh38]
Chr12:21623966 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.642T>G (p.Thr214=) single nucleotide variant not provided [RCV001415491]|not specified [RCV004038124] Chr12:21483434 [GRCh38]
Chr12:21636368 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1347C>T (p.Asn449=) single nucleotide variant not provided [RCV001444195] Chr12:21474849 [GRCh38]
Chr12:21627783 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1821T>C (p.His607=) single nucleotide variant not provided [RCV001403618] Chr12:21470323 [GRCh38]
Chr12:21623257 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.732G>A (p.Gln244=) single nucleotide variant not provided [RCV001410651]|not specified [RCV004038067] Chr12:21477938 [GRCh38]
Chr12:21630872 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1114G>A (p.Val372Ile) single nucleotide variant not provided [RCV001444878]|not specified [RCV004038430] Chr12:21475570 [GRCh38]
Chr12:21628504 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_002907.4(RECQL):c.1197C>T (p.Tyr399=) single nucleotide variant not provided [RCV001405706] Chr12:21475487 [GRCh38]
Chr12:21628421 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.214+24del deletion not provided [RCV001534415] Chr12:21491495 [GRCh38]
Chr12:21644429 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.315T>G (p.Ala105=) single nucleotide variant not provided [RCV001411477]|not specified [RCV004038078] Chr12:21490278 [GRCh38]
Chr12:21643212 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1631A>T (p.Lys544Met) single nucleotide variant RECQL-related disorder [RCV003965870]|not provided [RCV001445336]|not specified [RCV004038435] Chr12:21471464 [GRCh38]
Chr12:21624398 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.21A>G (p.Leu7=) single nucleotide variant not provided [RCV001432073]|not specified [RCV004038304] Chr12:21491712 [GRCh38]
Chr12:21644646 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1806G>A (p.Ser602=) single nucleotide variant not provided [RCV001404350]|not specified [RCV004037995] Chr12:21470338 [GRCh38]
Chr12:21623272 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.16+57T>C single nucleotide variant not provided [RCV001587894] Chr12:21499498 [GRCh38]
Chr12:21652432 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1938C>T (p.Ile646=) single nucleotide variant not provided [RCV001502943]|not specified [RCV004037438] Chr12:21470206 [GRCh38]
Chr12:21623140 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-22_395-21dup duplication not provided [RCV001509852] Chr12:21486594..21486595 [GRCh38]
Chr12:21639528..21639529 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.395-72C>A single nucleotide variant not provided [RCV001669325] Chr12:21486657 [GRCh38]
Chr12:21639591 [GRCh37]
Chr12:12p12.1
benign
NM_024854.5(PYROXD1):c.*203T>C single nucleotide variant not provided [RCV001682305] Chr12:21468957 [GRCh38]
Chr12:21621891 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.501+27del deletion not provided [RCV001695661] Chr12:21486452 [GRCh38]
Chr12:21639386 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.453A>G (p.Leu151=) single nucleotide variant not provided [RCV001455291]|not specified [RCV004038544] Chr12:21486527 [GRCh38]
Chr12:21639461 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1436G>A (p.Cys479Tyr) single nucleotide variant not provided [RCV001593480]|not specified [RCV004039496] Chr12:21473562 [GRCh38]
Chr12:21626496 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.*6A>C single nucleotide variant not provided [RCV001643789] Chr12:21470188 [GRCh38]
Chr12:21623122 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1089T>C (p.Asn363=) single nucleotide variant not provided [RCV001480276] Chr12:21475685 [GRCh38]
Chr12:21628619 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.214+23_214+24del deletion not provided [RCV001617584] Chr12:21491495..21491496 [GRCh38]
Chr12:21644429..21644430 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.*433T>C single nucleotide variant not provided [RCV001714468] Chr12:21469761 [GRCh38]
Chr12:21622695 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1616G>C (p.Arg539Pro) single nucleotide variant not provided [RCV001653021]|not specified [RCV004039553] Chr12:21471479 [GRCh38]
Chr12:21624413 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.215-287C>T single nucleotide variant not provided [RCV001539942] Chr12:21490665 [GRCh38]
Chr12:21643599 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1140G>A (p.Lys380=) single nucleotide variant not provided [RCV001506430]|not specified [RCV004037857] Chr12:21475544 [GRCh38]
Chr12:21628478 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1593T>C (p.Gly531=) single nucleotide variant not provided [RCV001479803] Chr12:21471502 [GRCh38]
Chr12:21624436 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.868-2A>G single nucleotide variant RECON progeroid syndrome [RCV003761316]|not provided [RCV001467156] Chr12:21476994 [GRCh38]
Chr12:21629928 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.60A>G (p.Ala20=) single nucleotide variant not provided [RCV001486373]|not specified [RCV004037264] Chr12:21491673 [GRCh38]
Chr12:21644607 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.950-8T>C single nucleotide variant not provided [RCV001503312] Chr12:21475832 [GRCh38]
Chr12:21628766 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1737G>A (p.Leu579=) single nucleotide variant not provided [RCV001469463]|not specified [RCV004038686] Chr12:21471029 [GRCh38]
Chr12:21623963 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.215-5C>T single nucleotide variant not provided [RCV001461475] Chr12:21490383 [GRCh38]
Chr12:21643317 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1668-7del deletion not provided [RCV001511065] Chr12:21471105 [GRCh38]
Chr12:21624039 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.846T>C (p.Asn282=) single nucleotide variant not provided [RCV001423585]|not specified [RCV004038214] Chr12:21477824 [GRCh38]
Chr12:21630758 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1623T>C (p.Asp541=) single nucleotide variant not provided [RCV001397737]|not specified [RCV004037786] Chr12:21471472 [GRCh38]
Chr12:21624406 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.700+7A>G single nucleotide variant not provided [RCV001459362] Chr12:21483369 [GRCh38]
Chr12:21636303 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.963T>C (p.Cys321=) single nucleotide variant not provided [RCV001471781] Chr12:21475811 [GRCh38]
Chr12:21628745 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV001398864]|not specified [RCV004037798] Chr12:21491702 [GRCh38]
Chr12:21644636 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.502-162G>A single nucleotide variant not provided [RCV001538861] Chr12:21483736 [GRCh38]
Chr12:21636670 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1356-12A>G single nucleotide variant not provided [RCV001539240] Chr12:21473654 [GRCh38]
Chr12:21626588 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1531A>G (p.Thr511Ala) single nucleotide variant not provided [RCV001754824] Chr12:21471564 [GRCh38]
Chr12:21624498 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1034A>T (p.His345Leu) single nucleotide variant not provided [RCV001760833]|not specified [RCV004040157] Chr12:21475740 [GRCh38]
Chr12:21628674 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1931_1936del (p.Arg644_Lys645del) deletion not provided [RCV001761006]|not specified [RCV004040216] Chr12:21470208..21470213 [GRCh38]
Chr12:21623142..21623147 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.685C>T (p.His229Tyr) single nucleotide variant not provided [RCV001756842] Chr12:21483391 [GRCh38]
Chr12:21636325 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.-45-7T>G single nucleotide variant not provided [RCV001761442] Chr12:21499622 [GRCh38]
Chr12:21652556 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1795A>G (p.Arg599Gly) single nucleotide variant RECON progeroid syndrome [RCV005006018]|not provided [RCV001763111]|not specified [RCV004040160] Chr12:21470971 [GRCh38]
Chr12:21623905 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1220G>A (p.Arg407Gln) single nucleotide variant not provided [RCV001761468]|not specified [RCV004040244] Chr12:21474976 [GRCh38]
Chr12:21627910 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1444A>G (p.Ser482Gly) single nucleotide variant not provided [RCV001767148] Chr12:21473554 [GRCh38]
Chr12:21626488 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.697C>A (p.Pro233Thr) single nucleotide variant not provided [RCV001767216]|not specified [RCV004040133] Chr12:21483379 [GRCh38]
Chr12:21636313 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.548A>C (p.Glu183Ala) single nucleotide variant RECON progeroid syndrome [RCV005006015]|not provided [RCV001766911]|not specified [RCV004040125] Chr12:21483528 [GRCh38]
Chr12:21636462 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.958T>C (p.Tyr320His) single nucleotide variant not provided [RCV001770865]|not specified [RCV004599264] Chr12:21475816 [GRCh38]
Chr12:21628750 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.501+5_501+7delinsTGA indel not provided [RCV001786865] Chr12:21486472..21486474 [GRCh38]
Chr12:21639406..21639408 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.280C>T (p.Pro94Ser) single nucleotide variant not provided [RCV001765254]|not specified [RCV004040123] Chr12:21490313 [GRCh38]
Chr12:21643247 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.590G>T (p.Ser197Ile) single nucleotide variant not provided [RCV001763954]|not specified [RCV004040270] Chr12:21483486 [GRCh38]
Chr12:21636420 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1181C>G (p.Ser394Cys) single nucleotide variant not provided [RCV001772915]|not specified [RCV004040285] Chr12:21475503 [GRCh38]
Chr12:21628437 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.86C>G (p.Thr29Arg) single nucleotide variant not provided [RCV001769410]|not specified [RCV004040277] Chr12:21491647 [GRCh38]
Chr12:21644581 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1495A>G (p.Ile499Val) single nucleotide variant not provided [RCV001765522] Chr12:21471600 [GRCh38]
Chr12:21624534 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.27G>C (p.Glu9Asp) single nucleotide variant not provided [RCV001769116]|not specified [RCV004040259] Chr12:21491706 [GRCh38]
Chr12:21644640 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.92G>A (p.Arg31Lys) single nucleotide variant not provided [RCV001763650]|not specified [RCV004040246] Chr12:21491641 [GRCh38]
Chr12:21644575 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.792T>A (p.Asp264Glu) single nucleotide variant RECON progeroid syndrome [RCV005006053]|not provided [RCV001786851]|not specified [RCV004040826] Chr12:21477878 [GRCh38]
Chr12:21630812 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.779A>C (p.His260Pro) single nucleotide variant RECON progeroid syndrome [RCV003762111]|not provided [RCV002001436]|not specified [RCV004045284] Chr12:21477891 [GRCh38]
Chr12:21630825 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1855_1857dup (p.Asn619_Ser620insAsn) duplication not provided [RCV001758592]|not specified [RCV004040223] Chr12:21470286..21470287 [GRCh38]
Chr12:21623220..21623221 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1831G>C (p.Gly611Arg) single nucleotide variant not provided [RCV001756843]|not specified [RCV004040194] Chr12:21470313 [GRCh38]
Chr12:21623247 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1099-17A>G single nucleotide variant not provided [RCV001811958] Chr12:21475602 [GRCh38]
Chr12:21628536 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_002907.4(RECQL):c.120_121insT (p.Val41fs) insertion not provided [RCV002001716]|not specified [RCV004045319] Chr12:21491612..21491613 [GRCh38]
Chr12:21644546..21644547 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1300A>T (p.Asn434Tyr) single nucleotide variant not provided [RCV001864412]|not specified [RCV004040514] Chr12:21474896 [GRCh38]
Chr12:21627830 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.182A>G (p.Tyr61Cys) single nucleotide variant not provided [RCV001988100] Chr12:21491551 [GRCh38]
Chr12:21644485 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1015A>G (p.Ile339Val) single nucleotide variant not provided [RCV002042568] Chr12:21475759 [GRCh38]
Chr12:21628693 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.321G>C (p.Lys107Asn) single nucleotide variant RECON progeroid syndrome [RCV005006282]|not provided [RCV001950656]|not specified [RCV004043155] Chr12:21490272 [GRCh38]
Chr12:21643206 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.118A>C (p.Lys40Gln) single nucleotide variant not provided [RCV001895801] Chr12:21491615 [GRCh38]
Chr12:21644549 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1460_1463del (p.Lys487fs) microsatellite not provided [RCV001950261]|not specified [RCV004043078] Chr12:21471632..21471635 [GRCh38]
Chr12:21624566..21624569 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.730C>T (p.Gln244Ter) single nucleotide variant not provided [RCV001987748]|not specified [RCV004043779] Chr12:21477940 [GRCh38]
Chr12:21630874 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1807dup (p.Ser603fs) duplication not provided [RCV001970778] Chr12:21470336..21470337 [GRCh38]
Chr12:21623270..21623271 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.694A>G (p.Arg232Gly) single nucleotide variant not provided [RCV002008619]|not specified [RCV004043276] Chr12:21483382 [GRCh38]
Chr12:21636316 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.867+20A>G single nucleotide variant not provided [RCV001929664] Chr12:21477783 [GRCh38]
Chr12:21630717 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.700+6T>A single nucleotide variant not provided [RCV002008003] Chr12:21483370 [GRCh38]
Chr12:21636304 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1217-1G>C single nucleotide variant not provided [RCV002008685] Chr12:21474980 [GRCh38]
Chr12:21627914 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1869C>G (p.Phe623Leu) single nucleotide variant not provided [RCV002040072]|not specified [RCV004038951] Chr12:21470275 [GRCh38]
Chr12:21623209 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_002907.4(RECQL):c.1274G>A (p.Arg425Lys) single nucleotide variant not provided [RCV002005179] Chr12:21474922 [GRCh38]
Chr12:21627856 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479) copy number gain not specified [RCV002052977] Chr12:19193233..21709479 [GRCh37]
Chr12:12p12.3-12.1
uncertain significance
NM_002907.4(RECQL):c.1328T>C (p.Met443Thr) single nucleotide variant not provided [RCV002041705]|not specified [RCV004847833] Chr12:21474868 [GRCh38]
Chr12:21627802 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.868-3T>G single nucleotide variant not provided [RCV002043203] Chr12:21476995 [GRCh38]
Chr12:21629929 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.863A>G (p.Tyr288Cys) single nucleotide variant not provided [RCV002021827]|not specified [RCV004043971] Chr12:21477807 [GRCh38]
Chr12:21630741 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1016T>C (p.Ile339Thr) single nucleotide variant not provided [RCV001889676]|not specified [RCV004039155] Chr12:21475758 [GRCh38]
Chr12:21628692 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1865A>C (p.Asn622Thr) single nucleotide variant RECON progeroid syndrome [RCV005006140]|not provided [RCV001891934] Chr12:21470279 [GRCh38]
Chr12:21623213 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1183A>T (p.Met395Leu) single nucleotide variant not provided [RCV001945827] Chr12:21475501 [GRCh38]
Chr12:21628435 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.158C>T (p.Ser53Phe) single nucleotide variant not provided [RCV001893546]|not specified [RCV004041662] Chr12:21491575 [GRCh38]
Chr12:21644509 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895) copy number gain not specified [RCV002052974] Chr12:17884992..26704895 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
NM_002907.4(RECQL):c.887A>G (p.Asn296Ser) single nucleotide variant not provided [RCV001892349]|not specified [RCV004041196] Chr12:21476973 [GRCh38]
Chr12:21629907 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_002907.4(RECQL):c.1348A>G (p.Ile450Val) single nucleotide variant not provided [RCV002003521] Chr12:21474848 [GRCh38]
Chr12:21627782 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1447+13T>C single nucleotide variant not provided [RCV001890893] Chr12:21473538 [GRCh38]
Chr12:21626472 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1548T>G (p.Ile516Met) single nucleotide variant not provided [RCV001891404]|not specified [RCV004041564] Chr12:21471547 [GRCh38]
Chr12:21624481 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.283C>G (p.Leu95Val) single nucleotide variant not provided [RCV001946324]|not specified [RCV004042138] Chr12:21490310 [GRCh38]
Chr12:21643244 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.202T>C (p.Trp68Arg) single nucleotide variant not provided [RCV002044352]|not specified [RCV004847835] Chr12:21491531 [GRCh38]
Chr12:21644465 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1077A>C (p.Lys359Asn) single nucleotide variant RECON progeroid syndrome [RCV005006235]|not provided [RCV001910573]|not specified [RCV004599273] Chr12:21475697 [GRCh38]
Chr12:21628631 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1731_1732delinsCT (p.Leu578Phe) indel not provided [RCV001966932]|not specified [RCV004042185] Chr12:21471034..21471035 [GRCh38]
Chr12:21623968..21623969 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.-45-3T>C single nucleotide variant not provided [RCV001837093] Chr12:21499618 [GRCh38]
Chr12:21652552 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.563A>G (p.Tyr188Cys) single nucleotide variant not provided [RCV001895198]|not specified [RCV004041215] Chr12:21483513 [GRCh38]
Chr12:21636447 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1155_1158del (p.Phe385fs) deletion not provided [RCV001909528]|not specified [RCV004042793] Chr12:21475526..21475529 [GRCh38]
Chr12:21628460..21628463 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln) single nucleotide variant Hepatoblastoma [RCV001843908] Chr12:21483504 [GRCh38]
Chr12:21636438 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1604C>T (p.Pro535Leu) single nucleotide variant not provided [RCV001847477]|not specified [RCV004038694] Chr12:21471491 [GRCh38]
Chr12:21624425 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1129G>A (p.Gly377Arg) single nucleotide variant not provided [RCV001948723]|not specified [RCV004042988] Chr12:21475555 [GRCh38]
Chr12:21628489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.156T>G (p.Asp52Glu) single nucleotide variant not provided [RCV001927884] Chr12:21491577 [GRCh38]
Chr12:21644511 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1642C>T (p.His548Tyr) single nucleotide variant not provided [RCV001964738]|not specified [RCV004041824] Chr12:21471453 [GRCh38]
Chr12:21624387 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1828C>A (p.Gln610Lys) single nucleotide variant not provided [RCV001979862]|not specified [RCV004043825] Chr12:21470316 [GRCh38]
Chr12:21623250 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1797+1del deletion not provided [RCV001942690] Chr12:21470968 [GRCh38]
Chr12:21623902 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.377C>T (p.Pro126Leu) single nucleotide variant not provided [RCV001961615]|not specified [RCV004044681] Chr12:21490216 [GRCh38]
Chr12:21643150 [GRCh37]
Chr12:12p12.1
uncertain significance
NC_000012.11:g.(?_21590665)_(22089608_?)del deletion Dilated cardiomyopathy 1O [RCV001920617] Chr12:21590665..22089608 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1667+2T>A single nucleotide variant not provided [RCV001903635] Chr12:21471426 [GRCh38]
Chr12:21624360 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.854del (p.Asn285fs) deletion not provided [RCV001978492] Chr12:21477816 [GRCh38]
Chr12:21630750 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.494G>A (p.Ser165Asn) single nucleotide variant not provided [RCV001924094]|not specified [RCV004044249] Chr12:21486486 [GRCh38]
Chr12:21639420 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.950-6C>G single nucleotide variant not provided [RCV001944208] Chr12:21475830 [GRCh38]
Chr12:21628764 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.955A>T (p.Ile319Leu) single nucleotide variant not provided [RCV001961135] Chr12:21475819 [GRCh38]
Chr12:21628753 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1087_1088insCAGCTTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGGTCAGCCA (p.Asn363fs) insertion not provided [RCV002000522] Chr12:21475686..21475687 [GRCh38]
Chr12:21628620..21628621 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1374G>T (p.Met458Ile) single nucleotide variant not provided [RCV001939769]|not specified [RCV004042534] Chr12:21473624 [GRCh38]
Chr12:21626558 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.175_176dup (p.Asn59fs) duplication not provided [RCV001881075]|not specified [RCV004041128] Chr12:21491556..21491557 [GRCh38]
Chr12:21644490..21644491 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1211G>A (p.Arg404His) single nucleotide variant not provided [RCV001943467]|not specified [RCV004044044] Chr12:21475473 [GRCh38]
Chr12:21628407 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1098+12A>G single nucleotide variant not provided [RCV001925663] Chr12:21475664 [GRCh38]
Chr12:21628598 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.239A>G (p.Lys80Arg) single nucleotide variant not provided [RCV001887560] Chr12:21490354 [GRCh38]
Chr12:21643288 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.950-3C>T single nucleotide variant not provided [RCV002018962] Chr12:21475827 [GRCh38]
Chr12:21628761 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.772A>G (p.Thr258Ala) single nucleotide variant not provided [RCV001907090] Chr12:21477898 [GRCh38]
Chr12:21630832 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1678A>G (p.Ser560Gly) single nucleotide variant not provided [RCV001962309] Chr12:21471088 [GRCh38]
Chr12:21624022 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.701-10_701-7del microsatellite RECQL-related disorder [RCV003893015]|not provided [RCV001942208] Chr12:21477976..21477979 [GRCh38]
Chr12:21630910..21630913 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_002907.4(RECQL):c.1861G>C (p.Gly621Arg) single nucleotide variant not provided [RCV001884068]|not specified [RCV004041425] Chr12:21470283 [GRCh38]
Chr12:21623217 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.842T>C (p.Phe281Ser) single nucleotide variant not provided [RCV001955684]|not specified [RCV004043643] Chr12:21477828 [GRCh38]
Chr12:21630762 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.430A>T (p.Met144Leu) single nucleotide variant not provided [RCV001903051]|not specified [RCV004041595] Chr12:21486550 [GRCh38]
Chr12:21639484 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1627G>C (p.Glu543Gln) single nucleotide variant not provided [RCV001957642] Chr12:21471468 [GRCh38]
Chr12:21624402 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.118A>G (p.Lys40Glu) single nucleotide variant not provided [RCV001937042]|not specified [RCV004043132] Chr12:21491615 [GRCh38]
Chr12:21644549 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1160T>A (p.Ile387Asn) single nucleotide variant not provided [RCV001916661]|not specified [RCV004044084] Chr12:21475524 [GRCh38]
Chr12:21628458 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1315A>C (p.Lys439Gln) single nucleotide variant not provided [RCV001978664]|not specified [RCV004043075] Chr12:21474881 [GRCh38]
Chr12:21627815 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1594G>A (p.Val532Ile) single nucleotide variant not provided [RCV002032228] Chr12:21471501 [GRCh38]
Chr12:21624435 [GRCh37]
Chr12:12p12.1
uncertain significance
NC_000012.11:g.(?_21294509)_(21652504_?)dup duplication not provided [RCV001975965] Chr12:21294509..21652504 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
NM_002907.4(RECQL):c.1668-2_1673AGA[1] (p.Glu557del) microsatellite not provided [RCV002032995] Chr12:21471093..21471095 [GRCh38]
Chr12:21624027..21624029 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1748C>T (p.Ala583Val) single nucleotide variant not provided [RCV001954960]|not specified [RCV004044219] Chr12:21471018 [GRCh38]
Chr12:21623952 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1741_1743del (p.Asn581del) deletion not provided [RCV001917175] Chr12:21471023..21471025 [GRCh38]
Chr12:21623957..21623959 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1098+5G>T single nucleotide variant not provided [RCV001898507] Chr12:21475671 [GRCh38]
Chr12:21628605 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.394+1G>A single nucleotide variant RECON progeroid syndrome [RCV003492707]|not provided [RCV001936721] Chr12:21490198 [GRCh38]
Chr12:21643132 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.950-1G>A single nucleotide variant not provided [RCV002046232] Chr12:21475825 [GRCh38]
Chr12:21628759 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1549G>A (p.Asp517Asn) single nucleotide variant not provided [RCV001990618] Chr12:21471546 [GRCh38]
Chr12:21624480 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1798-1G>A single nucleotide variant not provided [RCV002014829] Chr12:21470347 [GRCh38]
Chr12:21623281 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1521T>A (p.Asn507Lys) single nucleotide variant not provided [RCV002014844]|not specified [RCV004043967] Chr12:21471574 [GRCh38]
Chr12:21624508 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1444_1446del (p.Ser482del) deletion not provided [RCV001930741]|not specified [RCV004043459] Chr12:21473552..21473554 [GRCh38]
Chr12:21626486..21626488 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.980_981del (p.Asp326_Ser327insTer) microsatellite not provided [RCV001974961]|not specified [RCV004043068] Chr12:21475793..21475794 [GRCh38]
Chr12:21628727..21628728 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1254C>A (p.Tyr418Ter) single nucleotide variant not provided [RCV001992284]|not specified [RCV004045518] Chr12:21474942 [GRCh38]
Chr12:21627876 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.865G>A (p.Glu289Lys) single nucleotide variant not provided [RCV001957640]|not specified [RCV004656761] Chr12:21477805 [GRCh38]
Chr12:21630739 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.17-4A>T single nucleotide variant not provided [RCV002010468] Chr12:21491720 [GRCh38]
Chr12:21644654 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1772_1773insT (p.Ser593fs) insertion not provided [RCV001931186] Chr12:21470993..21470994 [GRCh38]
Chr12:21623927..21623928 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.998G>C (p.Ser333Thr) single nucleotide variant not provided [RCV001980054]|not specified [RCV004043852] Chr12:21475776 [GRCh38]
Chr12:21628710 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.199G>T (p.Ala67Ser) single nucleotide variant not provided [RCV001931213]|not specified [RCV004044306] Chr12:21491534 [GRCh38]
Chr12:21644468 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.217T>C (p.Phe73Leu) single nucleotide variant not provided [RCV001999460]|not specified [RCV004599277] Chr12:21490376 [GRCh38]
Chr12:21643310 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1296G>A (p.Met432Ile) single nucleotide variant not provided [RCV002034379]|not specified [RCV004847891] Chr12:21474900 [GRCh38]
Chr12:21627834 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.499A>G (p.Lys167Glu) single nucleotide variant not provided [RCV001981347]|not specified [RCV004043651] Chr12:21486481 [GRCh38]
Chr12:21639415 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.919C>G (p.Leu307Val) single nucleotide variant not provided [RCV001977887]|not specified [RCV004042315] Chr12:21476941 [GRCh38]
Chr12:21629875 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1055A>G (p.Asp352Gly) single nucleotide variant not provided [RCV001925294]|not specified [RCV004042568] Chr12:21475719 [GRCh38]
Chr12:21628653 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.623A>G (p.Tyr208Cys) single nucleotide variant Familial cancer of breast [RCV002508968]|not provided [RCV001937349]|not specified [RCV004039874] Chr12:21483453 [GRCh38]
Chr12:21636387 [GRCh37]
Chr12:12p12.1
uncertain significance|not provided
NM_002907.4(RECQL):c.1466_1470del (p.Ile489fs) deletion not provided [RCV001900964]|not specified [RCV004041531] Chr12:21471625..21471629 [GRCh38]
Chr12:21624559..21624563 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1099-5_1099-4insA insertion not provided [RCV001971973] Chr12:21475589..21475590 [GRCh38]
Chr12:21628523..21628524 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.622_623insTC (p.Tyr208fs) insertion not provided [RCV001982053] Chr12:21483453..21483454 [GRCh38]
Chr12:21636387..21636388 [GRCh37]
Chr12:12p12.1
uncertain significance
NC_000012.11:g.(?_21590665)_(22089608_?)dup duplication Dilated cardiomyopathy 1O [RCV001958184]|not provided [RCV001958183] Chr12:21590665..22089608 [GRCh37]
Chr12:12p12.1
uncertain significance|no classifications from unflagged records
NM_002907.4(RECQL):c.17-9C>T single nucleotide variant not provided [RCV001865037] Chr12:21491725 [GRCh38]
Chr12:21644659 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1743T>A (p.Asn581Lys) single nucleotide variant not provided [RCV002009846]|not specified [RCV004042397] Chr12:21471023 [GRCh38]
Chr12:21623957 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1525A>T (p.Lys509Ter) single nucleotide variant not provided [RCV002012403]|not specified [RCV004045370] Chr12:21471570 [GRCh38]
Chr12:21624504 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1196A>G (p.Tyr399Cys) single nucleotide variant not provided [RCV001918597]|not specified [RCV004042752] Chr12:21475488 [GRCh38]
Chr12:21628422 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1060A>C (p.Thr354Pro) single nucleotide variant not provided [RCV001996731]|not specified [RCV004043804] Chr12:21475714 [GRCh38]
Chr12:21628648 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.325G>A (p.Val109Ile) single nucleotide variant not provided [RCV001923970]|not specified [RCV004044242] Chr12:21490268 [GRCh38]
Chr12:21643202 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.310A>G (p.Met104Val) single nucleotide variant not provided [RCV001979804]|not specified [RCV004043817] Chr12:21490283 [GRCh38]
Chr12:21643217 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.880C>A (p.Pro294Thr) single nucleotide variant not provided [RCV002019929]|not specified [RCV004046022] Chr12:21476980 [GRCh38]
Chr12:21629914 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.394+4T>C single nucleotide variant not provided [RCV001924421] Chr12:21490195 [GRCh38]
Chr12:21643129 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.521A>G (p.His174Arg) single nucleotide variant not provided [RCV002009539]|not specified [RCV004857871] Chr12:21483555 [GRCh38]
Chr12:21636489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.4G>A (p.Ala2Thr) single nucleotide variant not provided [RCV001867091]|not specified [RCV004656682] Chr12:21499567 [GRCh38]
Chr12:21652501 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1363C>T (p.Arg455Cys) single nucleotide variant not provided [RCV001978707]|not specified [RCV004043079] Chr12:21473635 [GRCh38]
Chr12:21626569 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1069C>T (p.His357Tyr) single nucleotide variant not provided [RCV001990102]|not specified [RCV004043952] Chr12:21475705 [GRCh38]
Chr12:21628639 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.821G>A (p.Cys274Tyr) single nucleotide variant not provided [RCV001975637]|not specified [RCV004042174] Chr12:21477849 [GRCh38]
Chr12:21630783 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1849G>A (p.Glu617Lys) single nucleotide variant not provided [RCV001876424]|not specified [RCV004039015] Chr12:21470295 [GRCh38]
Chr12:21623229 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1102G>T (p.Val368Leu) single nucleotide variant not provided [RCV001990016] Chr12:21475582 [GRCh38]
Chr12:21628516 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1265A>T (p.Asp422Val) single nucleotide variant not provided [RCV001921218]|not specified [RCV004043518] Chr12:21474931 [GRCh38]
Chr12:21627865 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.36T>G (p.Asp12Glu) single nucleotide variant not provided [RCV001915808] Chr12:21491697 [GRCh38]
Chr12:21644631 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1765C>G (p.Gln589Glu) single nucleotide variant not provided [RCV001916025]|not specified [RCV004042725] Chr12:21471001 [GRCh38]
Chr12:21623935 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.432G>A (p.Met144Ile) single nucleotide variant not provided [RCV001975860] Chr12:21486548 [GRCh38]
Chr12:21639482 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1360C>T (p.Arg454Cys) single nucleotide variant not provided [RCV002011905]|not specified [RCV004043822] Chr12:21473638 [GRCh38]
Chr12:21626572 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1114G>C (p.Val372Leu) single nucleotide variant not provided [RCV001931649]|not specified [RCV004041986] Chr12:21475570 [GRCh38]
Chr12:21628504 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1598T>C (p.Val533Ala) single nucleotide variant not provided [RCV001899447] Chr12:21471497 [GRCh38]
Chr12:21624431 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1216+5G>A single nucleotide variant not provided [RCV002029342] Chr12:21475463 [GRCh38]
Chr12:21628397 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.189T>C (p.Ser63=) single nucleotide variant not provided [RCV002207371]|not specified [RCV004045627] Chr12:21491544 [GRCh38]
Chr12:21644478 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.642T>A (p.Thr214=) single nucleotide variant not provided [RCV002105990]|not specified [RCV004046302] Chr12:21483434 [GRCh38]
Chr12:21636368 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1314G>A (p.Gln438=) single nucleotide variant not provided [RCV002208925] Chr12:21474882 [GRCh38]
Chr12:21627816 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1476C>T (p.Tyr492=) single nucleotide variant not provided [RCV002110809]|not specified [RCV004046505] Chr12:21471619 [GRCh38]
Chr12:21624553 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1833T>C (p.Gly611=) single nucleotide variant not provided [RCV002109402]|not specified [RCV004045895] Chr12:21470311 [GRCh38]
Chr12:21623245 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.867+13del deletion not provided [RCV002090295] Chr12:21477790 [GRCh38]
Chr12:21630724 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.861T>C (p.Tyr287=) single nucleotide variant not provided [RCV002075239]|not specified [RCV004045700] Chr12:21477809 [GRCh38]
Chr12:21630743 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_002907.4(RECQL):c.700+19G>A single nucleotide variant not provided [RCV002088891] Chr12:21483357 [GRCh38]
Chr12:21636291 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.537T>C (p.Asn179=) single nucleotide variant not provided [RCV002110406]|not specified [RCV004046482] Chr12:21483539 [GRCh38]
Chr12:21636473 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-13_395-10del deletion not provided [RCV002129058] Chr12:21486595..21486598 [GRCh38]
Chr12:21639529..21639532 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.700+14A>C single nucleotide variant not provided [RCV002144687] Chr12:21483362 [GRCh38]
Chr12:21636296 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.395-5T>C single nucleotide variant not specified [RCV002246786] Chr12:21486590 [GRCh38]
Chr12:21639524 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV002085739]|not specified [RCV004847895] Chr12:21499565 [GRCh38]
Chr12:21652499 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1099-7A>T single nucleotide variant not provided [RCV002111831] Chr12:21475592 [GRCh38]
Chr12:21628526 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1692T>C (p.Tyr564=) single nucleotide variant not provided [RCV002111501]|not specified [RCV004045866] Chr12:21471074 [GRCh38]
Chr12:21624008 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.701-18C>T single nucleotide variant not provided [RCV002197649] Chr12:21477987 [GRCh38]
Chr12:21630921 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1848G>A (p.Glu616=) single nucleotide variant not provided [RCV002125920]|not specified [RCV004046571] Chr12:21470296 [GRCh38]
Chr12:21623230 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_002907.4(RECQL):c.1158T>C (p.Val386=) single nucleotide variant not provided [RCV002204980]|not specified [RCV004045602] Chr12:21475526 [GRCh38]
Chr12:21628460 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1448-14_1448-13del deletion not provided [RCV002096318] Chr12:21471660..21471661 [GRCh38]
Chr12:21624594..21624595 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.867+18C>A single nucleotide variant not provided [RCV002215927] Chr12:21477785 [GRCh38]
Chr12:21630719 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1448-12G>A single nucleotide variant not provided [RCV002093947] Chr12:21471659 [GRCh38]
Chr12:21624593 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.501+10A>T single nucleotide variant not provided [RCV002085823] Chr12:21486469 [GRCh38]
Chr12:21639403 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1356-15T>A single nucleotide variant not provided [RCV002085995] Chr12:21473657 [GRCh38]
Chr12:21626591 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.502-13_502-11del deletion not provided [RCV002195289] Chr12:21483585..21483587 [GRCh38]
Chr12:21636519..21636521 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.345A>G (p.Thr115=) single nucleotide variant not provided [RCV002113514] Chr12:21490248 [GRCh38]
Chr12:21643182 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.394+16dup duplication not provided [RCV002114486] Chr12:21490182..21490183 [GRCh38]
Chr12:21643116..21643117 [GRCh37]
Chr12:12p12.1
benign
NM_002907.4(RECQL):c.1506G>A (p.Gln502=) single nucleotide variant not provided [RCV002087920]|not specified [RCV004045721] Chr12:21471589 [GRCh38]
Chr12:21624523 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1920A>C (p.Gly640=) single nucleotide variant not provided [RCV002213171]|not specified [RCV004045642] Chr12:21470224 [GRCh38]
Chr12:21623158 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.405C>T (p.Leu135=) single nucleotide variant not provided [RCV002167531]|not specified [RCV004045017] Chr12:21486575 [GRCh38]
Chr12:21639509 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1217-18A>G single nucleotide variant not provided [RCV002091366] Chr12:21474997 [GRCh38]
Chr12:21627931 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.502-14T>G single nucleotide variant not provided [RCV002105637] Chr12:21483588 [GRCh38]
Chr12:21636522 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1098+8C>G single nucleotide variant not provided [RCV002131134] Chr12:21475668 [GRCh38]
Chr12:21628602 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.768T>G (p.Thr256=) single nucleotide variant not provided [RCV002117577]|not specified [RCV004046291] Chr12:21477902 [GRCh38]
Chr12:21630836 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.52C>T (p.Leu18=) single nucleotide variant not provided [RCV002122060] Chr12:21491681 [GRCh38]
Chr12:21644615 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_002907.4(RECQL):c.949+14_949+17del microsatellite not provided [RCV002082080] Chr12:21476894..21476897 [GRCh38]
Chr12:21629828..21629831 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.949+13C>T single nucleotide variant not provided [RCV002202708] Chr12:21476898 [GRCh38]
Chr12:21629832 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1710G>A (p.Leu570=) single nucleotide variant not provided [RCV002117477] Chr12:21471056 [GRCh38]
Chr12:21623990 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile) single nucleotide variant not specified [RCV002246781] Chr12:21470288 [GRCh38]
Chr12:21623222 [GRCh37]
Chr12:12p12.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.1667+15A>G single nucleotide variant not provided [RCV002154631] Chr12:21471413 [GRCh38]
Chr12:21624347 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1098+20T>C single nucleotide variant not provided [RCV002082290] Chr12:21475656 [GRCh38]
Chr12:21628590 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.16+16T>C single nucleotide variant not provided [RCV002119380] Chr12:21499539 [GRCh38]
Chr12:21652473 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1098+7T>C single nucleotide variant not provided [RCV002162933] Chr12:21475669 [GRCh38]
Chr12:21628603 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1448-14T>C single nucleotide variant not provided [RCV002082004] Chr12:21471661 [GRCh38]
Chr12:21624595 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.291T>G (p.Leu97=) single nucleotide variant not provided [RCV002104025]|not specified [RCV004045857] Chr12:21490302 [GRCh38]
Chr12:21643236 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.950-15C>T single nucleotide variant not provided [RCV002219392] Chr12:21475839 [GRCh38]
Chr12:21628773 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.215-14C>A single nucleotide variant not provided [RCV002202643] Chr12:21490392 [GRCh38]
Chr12:21643326 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1667+8C>G single nucleotide variant not provided [RCV002137227] Chr12:21471420 [GRCh38]
Chr12:21624354 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.701-14G>C single nucleotide variant not provided [RCV002199998] Chr12:21477983 [GRCh38]
Chr12:21630917 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.361T>C (p.Leu121=) single nucleotide variant not provided [RCV002123310] Chr12:21490232 [GRCh38]
Chr12:21643166 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.735C>T (p.Phe245=) single nucleotide variant RECQL-related disorder [RCV003916377]|not provided [RCV002203950]|not specified [RCV004047150] Chr12:21477935 [GRCh38]
Chr12:21630869 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1071T>C (p.His357=) single nucleotide variant not provided [RCV002138382]|not specified [RCV004046621] Chr12:21475703 [GRCh38]
Chr12:21628637 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1098+10A>G single nucleotide variant not provided [RCV002162893] Chr12:21475666 [GRCh38]
Chr12:21628600 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.502-19dup duplication not provided [RCV002176744] Chr12:21483592..21483593 [GRCh38]
Chr12:21636526..21636527 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1217-8C>A single nucleotide variant not provided [RCV003110726] Chr12:21474987 [GRCh38]
Chr12:21627921 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.701-15T>G single nucleotide variant not provided [RCV003111116] Chr12:21477984 [GRCh38]
Chr12:21630918 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1667+18C>G single nucleotide variant not provided [RCV003116903] Chr12:21471410 [GRCh38]
Chr12:21624344 [GRCh37]
Chr12:12p12.1
likely benign
NC_000012.11:g.(?_21629835)_(21652504_?)del deletion not provided [RCV003113150] Chr12:21629835..21652504 [GRCh37]
Chr12:12p12.1
uncertain significance
NC_000012.11:g.(?_21623128)_(21652504_?)dup duplication not provided [RCV003113151] Chr12:21623128..21652504 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1217-12C>G single nucleotide variant not provided [RCV003111382] Chr12:21474991 [GRCh38]
Chr12:21627925 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.949+17C>A single nucleotide variant not provided [RCV003117134] Chr12:21476894 [GRCh38]
Chr12:21629828 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1798-4dup duplication not provided [RCV003115603] Chr12:21470349..21470350 [GRCh38]
Chr12:21623283..21623284 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.349G>A (p.Gly117Ser) single nucleotide variant not provided [RCV003115604] Chr12:21490244 [GRCh38]
Chr12:21643178 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.868-3T>C single nucleotide variant not provided [RCV003117204] Chr12:21476995 [GRCh38]
Chr12:21629929 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1169C>T (p.Ser390Leu) single nucleotide variant not provided [RCV003115009]|not specified [RCV004244590] Chr12:21475515 [GRCh38]
Chr12:21628449 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1099-15G>A single nucleotide variant not provided [RCV003117271] Chr12:21475600 [GRCh38]
Chr12:21628534 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.394+17T>A single nucleotide variant not provided [RCV003120071] Chr12:21490182 [GRCh38]
Chr12:21643116 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1461_1462del (p.Asn488fs) deletion not provided [RCV003129212]|not specified [RCV004245986] Chr12:21471633..21471634 [GRCh38]
Chr12:21624567..21624568 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002907.4(RECQL):c.613G>C (p.Glu205Gln) single nucleotide variant not provided [RCV003152259]|not specified [RCV004246175] Chr12:21483463 [GRCh38]
Chr12:21636397 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.502-2A>G single nucleotide variant Malignant neoplastic disease [RCV002249152] Chr12:21483576 [GRCh38]
Chr12:21636510 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.1025G>C (p.Gly342Ala) single nucleotide variant not provided [RCV002259466]|not specified [RCV004047405] Chr12:21475749 [GRCh38]
Chr12:21628683 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.505_507delinsAAG (p.His169Lys) indel not provided [RCV003154333] Chr12:21483569..21483571 [GRCh38]
Chr12:21636503..21636505 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.342T>A (p.Pro114=) single nucleotide variant not provided [RCV003777109]|not specified [RCV004330069] Chr12:21490251 [GRCh38]
Chr12:21643185 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.389C>T (p.Ser130Leu) single nucleotide variant not specified [RCV004050356] Chr12:21490204 [GRCh38]
Chr12:21643138 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1628AGA[1] (p.Lys544del) microsatellite not provided [RCV002275798]|not specified [RCV004047506] Chr12:21471462..21471464 [GRCh38]
Chr12:21624396..21624398 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.624T>A (p.Tyr208Ter) single nucleotide variant not specified [RCV004053445] Chr12:21483452 [GRCh38]
Chr12:21636386 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.299T>G (p.Ile100Ser) single nucleotide variant not specified [RCV004065476] Chr12:21490294 [GRCh38]
Chr12:21643228 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.211G>A (p.Glu71Lys) single nucleotide variant not provided [RCV002274718]|not specified [RCV004047499] Chr12:21491522 [GRCh38]
Chr12:21644456 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1621G>C (p.Asp541His) single nucleotide variant not provided [RCV002274741]|not specified [RCV004047500] Chr12:21471474 [GRCh38]
Chr12:21624408 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.798G>T (p.Gln266His) single nucleotide variant not provided [RCV003776467]|not specified [RCV004055346] Chr12:21477872 [GRCh38]
Chr12:21630806 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.282A>G (p.Pro94=) single nucleotide variant not specified [RCV004062351] Chr12:21490311 [GRCh38]
Chr12:21643245 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.542A>G (p.Asn181Ser) single nucleotide variant not specified [RCV004053065] Chr12:21483534 [GRCh38]
Chr12:21636468 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1393G>A (p.Val465Ile) single nucleotide variant not provided [RCV002288101]|not specified [RCV004047601] Chr12:21473605 [GRCh38]
Chr12:21626539 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1637T>C (p.Ile546Thr) single nucleotide variant not provided [RCV002281438]|not specified [RCV004047561] Chr12:21471458 [GRCh38]
Chr12:21624392 [GRCh37]
Chr12:12p12.1
uncertain significance
NC_000012.12:g.21468736AGA[1] microsatellite not provided [RCV002287040] Chr12:21468736..21468738 [GRCh38]
Chr12:21621670..21621672 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.370C>G (p.Gln124Glu) single nucleotide variant not specified [RCV004049730] Chr12:21490223 [GRCh38]
Chr12:21643157 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1151G>A (p.Arg384Lys) single nucleotide variant not specified [RCV004049731] Chr12:21475533 [GRCh38]
Chr12:21628467 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.801_803del (p.Lys267_Ile268delinsAsn) deletion not specified [RCV004055380] Chr12:21477867..21477869 [GRCh38]
Chr12:21630801..21630803 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.339G>A (p.Met113Ile) single nucleotide variant not specified [RCV004047918] Chr12:21490254 [GRCh38]
Chr12:21643188 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.743C>T (p.Ala248Val) single nucleotide variant not specified [RCV004056278] Chr12:21477927 [GRCh38]
Chr12:21630861 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.365G>C (p.Cys122Ser) single nucleotide variant not specified [RCV004049592] Chr12:21490228 [GRCh38]
Chr12:21643162 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.744A>C (p.Ala248=) single nucleotide variant not specified [RCV004056284] Chr12:21477926 [GRCh38]
Chr12:21630860 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.203G>A (p.Trp68Ter) single nucleotide variant not specified [RCV004059597] Chr12:21491530 [GRCh38]
Chr12:21644464 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.988G>C (p.Val330Leu) single nucleotide variant not specified [RCV004057679] Chr12:21475786 [GRCh38]
Chr12:21628720 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.673A>C (p.Ser225Arg) single nucleotide variant not provided [RCV003098352]|not specified [RCV004052758] Chr12:21483403 [GRCh38]
Chr12:21636337 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.673A>T (p.Ser225Cys) single nucleotide variant not specified [RCV004052759] Chr12:21483403 [GRCh38]
Chr12:21636337 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1228A>G (p.Met410Val) single nucleotide variant not provided [RCV003103315]|not specified [RCV004054529] Chr12:21474968 [GRCh38]
Chr12:21627902 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.509T>G (p.Val170Gly) single nucleotide variant not specified [RCV004051012] Chr12:21483567 [GRCh38]
Chr12:21636501 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1332A>T (p.Val444=) single nucleotide variant not specified [RCV004058694] Chr12:21474864 [GRCh38]
Chr12:21627798 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.712C>T (p.Leu238Phe) single nucleotide variant RECON progeroid syndrome [RCV005008562]|not specified [RCV004055282] Chr12:21477958 [GRCh38]
Chr12:21630892 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1326G>A (p.Glu442=) single nucleotide variant not specified [RCV004058399] Chr12:21474870 [GRCh38]
Chr12:21627804 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1327A>G (p.Met443Val) single nucleotide variant not specified [RCV004058403] Chr12:21474869 [GRCh38]
Chr12:21627803 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.256G>A (p.Val86Ile) single nucleotide variant not specified [RCV004062776] Chr12:21490337 [GRCh38]
Chr12:21643271 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.989T>C (p.Val330Ala) single nucleotide variant not specified [RCV004057685] Chr12:21475785 [GRCh38]
Chr12:21628719 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.674G>A (p.Ser225Asn) single nucleotide variant not specified [RCV004052769] Chr12:21483402 [GRCh38]
Chr12:21636336 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.545C>A (p.Ser182Tyr) single nucleotide variant not specified [RCV004053096] Chr12:21483531 [GRCh38]
Chr12:21636465 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1329G>A (p.Met443Ile) single nucleotide variant not specified [RCV004058417] Chr12:21474867 [GRCh38]
Chr12:21627801 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.511A>G (p.Lys171Glu) single nucleotide variant not specified [RCV004051040] Chr12:21483565 [GRCh38]
Chr12:21636499 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.955A>G (p.Ile319Val) single nucleotide variant not specified [RCV004056914] Chr12:21475819 [GRCh38]
Chr12:21628753 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.80A>G (p.Glu27Gly) single nucleotide variant not specified [RCV004055447] Chr12:21491653 [GRCh38]
Chr12:21644587 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1220G>T (p.Arg407Leu) single nucleotide variant not specified [RCV004053875] Chr12:21474976 [GRCh38]
Chr12:21627910 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1284A>G (p.Ser428=) single nucleotide variant not specified [RCV004057689] Chr12:21474912 [GRCh38]
Chr12:21627846 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.289C>T (p.Leu97Phe) single nucleotide variant not provided [RCV003102850]|not specified [RCV004063090] Chr12:21490304 [GRCh38]
Chr12:21643238 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1323T>C (p.Tyr441=) single nucleotide variant not specified [RCV004058382] Chr12:21474873 [GRCh38]
Chr12:21627807 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1324G>A (p.Glu442Lys) single nucleotide variant not specified [RCV004058389] Chr12:21474872 [GRCh38]
Chr12:21627806 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.546C>T (p.Ser182=) single nucleotide variant RECQL-related disorder [RCV003896140]|not provided [RCV003096754]|not specified [RCV004053116] Chr12:21483530 [GRCh38]
Chr12:21636464 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.815A>G (p.Glu272Gly) single nucleotide variant not specified [RCV004055500] Chr12:21477855 [GRCh38]
Chr12:21630789 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1009C>T (p.Leu337=) single nucleotide variant not provided [RCV003102094]|not specified [RCV004063586] Chr12:21475765 [GRCh38]
Chr12:21628699 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1153T>C (p.Phe385Leu) single nucleotide variant not specified [RCV004048054] Chr12:21475531 [GRCh38]
Chr12:21628465 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.287A>G (p.Gln96Arg) single nucleotide variant not specified [RCV004063021] Chr12:21490306 [GRCh38]
Chr12:21643240 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.960T>C (p.Tyr320=) single nucleotide variant not specified [RCV004056955] Chr12:21475814 [GRCh38]
Chr12:21628748 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.664C>T (p.His222Tyr) single nucleotide variant not specified [RCV004054512] Chr12:21483412 [GRCh38]
Chr12:21636346 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.542A>C (p.Asn181Thr) single nucleotide variant not specified [RCV004053063] Chr12:21483534 [GRCh38]
Chr12:21636468 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.121del (p.Val41fs) deletion not specified [RCV004053806] Chr12:21491612 [GRCh38]
Chr12:21644546 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.631A>G (p.Arg211Gly) single nucleotide variant not specified [RCV004053829] Chr12:21483445 [GRCh38]
Chr12:21636379 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.552A>G (p.Leu184=) single nucleotide variant not provided [RCV003096781]|not specified [RCV004053190] Chr12:21483524 [GRCh38]
Chr12:21636458 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1331T>A (p.Val444Glu) single nucleotide variant not specified [RCV004058689] Chr12:21474865 [GRCh38]
Chr12:21627799 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.553A>C (p.Lys185Gln) single nucleotide variant not specified [RCV004053206] Chr12:21483523 [GRCh38]
Chr12:21636457 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.810C>G (p.Cys270Trp) single nucleotide variant not specified [RCV004055455] Chr12:21477860 [GRCh38]
Chr12:21630794 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.959_960del (p.Tyr320fs) microsatellite not specified [RCV004056939] Chr12:21475814..21475815 [GRCh38]
Chr12:21628748..21628749 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.812T>C (p.Ile271Thr) single nucleotide variant not specified [RCV004055482] Chr12:21477858 [GRCh38]
Chr12:21630792 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.263A>G (p.Lys88Arg) single nucleotide variant not specified [RCV004063504] Chr12:21490330 [GRCh38]
Chr12:21643264 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.493A>G (p.Ser165Gly) single nucleotide variant not specified [RCV004050258] Chr12:21486487 [GRCh38]
Chr12:21639421 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.985C>A (p.Gln329Lys) single nucleotide variant not specified [RCV004057656] Chr12:21475789 [GRCh38]
Chr12:21628723 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.194C>T (p.Pro65Leu) single nucleotide variant not specified [RCV004061474] Chr12:21491539 [GRCh38]
Chr12:21644473 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1070A>C (p.His357Pro) single nucleotide variant not specified [RCV004061475] Chr12:21475704 [GRCh38]
Chr12:21628638 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1070A>G (p.His357Arg) single nucleotide variant not specified [RCV004061485] Chr12:21475704 [GRCh38]
Chr12:21628638 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1001T>A (p.Leu334Ter) single nucleotide variant not specified [RCV004058350] Chr12:21475773 [GRCh38]
Chr12:21628707 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.709G>A (p.Ala237Thr) single nucleotide variant not specified [RCV004055252] Chr12:21477961 [GRCh38]
Chr12:21630895 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.970C>T (p.Gln324Ter) single nucleotide variant not specified [RCV004057547] Chr12:21475804 [GRCh38]
Chr12:21628738 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.329T>G (p.Phe110Cys) single nucleotide variant not specified [RCV004049493] Chr12:21490264 [GRCh38]
Chr12:21643198 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.811A>G (p.Ile271Val) single nucleotide variant not specified [RCV004055460] Chr12:21477859 [GRCh38]
Chr12:21630793 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.541A>T (p.Asn181Tyr) single nucleotide variant not specified [RCV004053047] Chr12:21483535 [GRCh38]
Chr12:21636469 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.807G>T (p.Leu269Phe) single nucleotide variant not specified [RCV004055429] Chr12:21477863 [GRCh38]
Chr12:21630797 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1124G>C (p.Gly375Ala) single nucleotide variant not provided [RCV003720640]|not specified [RCV004065490] Chr12:21475560 [GRCh38]
Chr12:21628494 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1860A>G (p.Ser620=) single nucleotide variant not specified [RCV004060058] Chr12:21470284 [GRCh38]
Chr12:21623218 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1874A>G (p.Lys625Arg) single nucleotide variant not provided [RCV003774535]|not specified [RCV004060120] Chr12:21470270 [GRCh38]
Chr12:21623204 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1877A>C (p.Lys626Thr) single nucleotide variant not specified [RCV004060142] Chr12:21470267 [GRCh38]
Chr12:21623201 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p12.1(chr12:21567573-21623649)x1 copy number loss not provided [RCV002473743] Chr12:21567573..21623649 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.181T>C (p.Tyr61His) single nucleotide variant not specified [RCV004059374] Chr12:21491552 [GRCh38]
Chr12:21644486 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1885A>G (p.Asn629Asp) single nucleotide variant not specified [RCV004060177] Chr12:21470259 [GRCh38]
Chr12:21623193 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1197C>G (p.Tyr399Ter) single nucleotide variant not specified [RCV004052250] Chr12:21475487 [GRCh38]
Chr12:21628421 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.804T>A (p.Ile268=) single nucleotide variant not specified [RCV004055404] Chr12:21477866 [GRCh38]
Chr12:21630800 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.805T>A (p.Leu269Met) single nucleotide variant not provided [RCV003099830]|not specified [RCV004055412] Chr12:21477865 [GRCh38]
Chr12:21630799 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1846G>T (p.Glu616Ter) single nucleotide variant not provided [RCV003738256]|not specified [RCV004060003] Chr12:21470298 [GRCh38]
Chr12:21623232 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1847A>T (p.Glu616Val) single nucleotide variant not specified [RCV004060005] Chr12:21470297 [GRCh38]
Chr12:21623231 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.562del (p.Tyr188fs) deletion not specified [RCV004053628] Chr12:21483514 [GRCh38]
Chr12:21636448 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1047G>A (p.Glu349=) single nucleotide variant not provided [RCV003012585] Chr12:21475727 [GRCh38]
Chr12:21628661 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1944T>C (p.Asp648=) single nucleotide variant not specified [RCV004060978] Chr12:21470200 [GRCh38]
Chr12:21623134 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.35A>C (p.Asp12Ala) single nucleotide variant not provided [RCV003099607]|not specified [RCV004049205] Chr12:21491698 [GRCh38]
Chr12:21644632 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.366T>G (p.Cys122Trp) single nucleotide variant not provided [RCV003478967]|not specified [RCV004049627] Chr12:21490227 [GRCh38]
Chr12:21643161 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1707T>C (p.Tyr569=) single nucleotide variant not specified [RCV004060554] Chr12:21471059 [GRCh38]
Chr12:21623993 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1430A>G (p.Asn477Ser) single nucleotide variant not specified [RCV004057800] Chr12:21473568 [GRCh38]
Chr12:21626502 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.612A>G (p.Leu204=) single nucleotide variant not provided [RCV003103266]|not specified [RCV004053290] Chr12:21483464 [GRCh38]
Chr12:21636398 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.684A>G (p.Gly228=) single nucleotide variant not provided [RCV003730124]|not specified [RCV004052874] Chr12:21483392 [GRCh38]
Chr12:21636326 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.863A>T (p.Tyr288Phe) single nucleotide variant not specified [RCV004056575] Chr12:21477807 [GRCh38]
Chr12:21630741 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1670A>C (p.Glu557Ala) single nucleotide variant not specified [RCV004059825] Chr12:21471096 [GRCh38]
Chr12:21624030 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1513del (p.Glu505fs) deletion not specified [RCV004058611] Chr12:21471582 [GRCh38]
Chr12:21624516 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.761C>G (p.Thr254Ser) single nucleotide variant not specified [RCV004056464] Chr12:21477909 [GRCh38]
Chr12:21630843 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1056T>C (p.Asp352=) single nucleotide variant not specified [RCV004060612] Chr12:21475718 [GRCh38]
Chr12:21628652 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1544T>C (p.Leu515Pro) single nucleotide variant not provided [RCV003095319]|not specified [RCV004059029] Chr12:21471551 [GRCh38]
Chr12:21624485 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.137T>G (p.Ile46Arg) single nucleotide variant not specified [RCV004058936] Chr12:21491596 [GRCh38]
Chr12:21644530 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1552T>A (p.Ser518Thr) single nucleotide variant not specified [RCV004059078] Chr12:21471543 [GRCh38]
Chr12:21624477 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.902T>C (p.Ile301Thr) single nucleotide variant not specified [RCV004054942] Chr12:21476958 [GRCh38]
Chr12:21629892 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.903T>C (p.Ile301=) single nucleotide variant not provided [RCV003120979]|not specified [RCV004054947] Chr12:21476957 [GRCh38]
Chr12:21629891 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1390dup (p.Glu464fs) duplication not specified [RCV004057087] Chr12:21473607..21473608 [GRCh38]
Chr12:21626541..21626542 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1195T>C (p.Tyr399His) single nucleotide variant not specified [RCV004051666] Chr12:21475489 [GRCh38]
Chr12:21628423 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.405C>G (p.Leu135=) single nucleotide variant not specified [RCV004051228] Chr12:21486575 [GRCh38]
Chr12:21639509 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1654C>T (p.Gln552Ter) single nucleotide variant not provided [RCV003097065]|not specified [RCV004059737] Chr12:21471441 [GRCh38]
Chr12:21624375 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.6G>T (p.Ala2=) single nucleotide variant not specified [RCV004055131] Chr12:21499565 [GRCh38]
Chr12:21652499 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1473G>A (p.Glu491=) single nucleotide variant not specified [RCV004058028] Chr12:21471622 [GRCh38]
Chr12:21624556 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1505A>G (p.Gln502Arg) single nucleotide variant not specified [RCV004058560] Chr12:21471590 [GRCh38]
Chr12:21624524 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1793T>G (p.Phe598Cys) single nucleotide variant not specified [RCV004059238] Chr12:21470973 [GRCh38]
Chr12:21623907 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1794C>A (p.Phe598Leu) single nucleotide variant not specified [RCV004059239] Chr12:21470972 [GRCh38]
Chr12:21623906 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1529_1530del (p.Leu510fs) deletion not specified [RCV004058944] Chr12:21471565..21471566 [GRCh38]
Chr12:21624499..21624500 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1757T>G (p.Ile586Ser) single nucleotide variant not specified [RCV004061319] Chr12:21471009 [GRCh38]
Chr12:21623943 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1788C>T (p.Asn596=) single nucleotide variant not specified [RCV004059209] Chr12:21470978 [GRCh38]
Chr12:21623912 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.788C>G (p.Thr263Arg) single nucleotide variant not specified [RCV004054755] Chr12:21477882 [GRCh38]
Chr12:21630816 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.281C>A (p.Pro94Gln) single nucleotide variant not specified [RCV004062314] Chr12:21490312 [GRCh38]
Chr12:21643246 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1608A>T (p.Thr536=) single nucleotide variant not specified [RCV004057456] Chr12:21471487 [GRCh38]
Chr12:21624421 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.32_33del (p.Leu11fs) deletion not specified [RCV004048933] Chr12:21491700..21491701 [GRCh38]
Chr12:21644634..21644635 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1767del (p.Gln589_Val590insTer) deletion not specified [RCV004061369] Chr12:21470999 [GRCh38]
Chr12:21623933 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1629G>T (p.Glu543Asp) single nucleotide variant not specified [RCV004599360] Chr12:21471466 [GRCh38]
Chr12:21624400 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.739A>G (p.Asn247Asp) single nucleotide variant not specified [RCV004055978] Chr12:21477931 [GRCh38]
Chr12:21630865 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1048C>G (p.Pro350Ala) single nucleotide variant not specified [RCV004057383] Chr12:21475726 [GRCh38]
Chr12:21628660 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1291G>T (p.Val431Leu) single nucleotide variant not provided [RCV003730162]|not specified [RCV004058197] Chr12:21474905 [GRCh38]
Chr12:21627839 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1651dup (p.Ile551fs) duplication not specified [RCV004059726] Chr12:21471443..21471444 [GRCh38]
Chr12:21624377..21624378 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1604C>G (p.Pro535Arg) single nucleotide variant not specified [RCV004057433] Chr12:21471491 [GRCh38]
Chr12:21624425 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.573A>G (p.Pro191=) single nucleotide variant not provided [RCV003096859]|not specified [RCV004053769] Chr12:21483503 [GRCh38]
Chr12:21636437 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1645T>C (p.Phe549Leu) single nucleotide variant not specified [RCV004058161] Chr12:21471450 [GRCh38]
Chr12:21624384 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.146G>A (p.Cys49Tyr) single nucleotide variant not specified [RCV004058007] Chr12:21491587 [GRCh38]
Chr12:21644521 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1291G>A (p.Val431Met) single nucleotide variant not specified [RCV004058196] Chr12:21474905 [GRCh38]
Chr12:21627839 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.214G>A (p.Asp72Asn) single nucleotide variant not specified [RCV004061029] Chr12:21491519 [GRCh38]
Chr12:21644453 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.421A>C (p.Ile141Leu) single nucleotide variant not specified [RCV004051914] Chr12:21486559 [GRCh38]
Chr12:21639493 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.886A>G (p.Asn296Asp) single nucleotide variant not specified [RCV004054827] Chr12:21476974 [GRCh38]
Chr12:21629908 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1480A>G (p.Arg494Gly) single nucleotide variant not specified [RCV004058446] Chr12:21471615 [GRCh38]
Chr12:21624549 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1303G>A (p.Val435Met) single nucleotide variant not provided [RCV003149029]|not specified [RCV004058264] Chr12:21474893 [GRCh38]
Chr12:21627827 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.380C>T (p.Ala127Val) single nucleotide variant not specified [RCV004048134] Chr12:21490213 [GRCh38]
Chr12:21643147 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1581G>T (p.Leu527=) single nucleotide variant not specified [RCV004057309] Chr12:21471514 [GRCh38]
Chr12:21624448 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1582A>G (p.Arg528Gly) single nucleotide variant not specified [RCV004599356] Chr12:21471513 [GRCh38]
Chr12:21624447 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.587A>G (p.Lys196Arg) single nucleotide variant not specified [RCV004054220] Chr12:21483489 [GRCh38]
Chr12:21636423 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.643C>G (p.Arg215Gly) single nucleotide variant not specified [RCV004053990] Chr12:21483433 [GRCh38]
Chr12:21636367 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1472_1473del (p.Glu491fs) microsatellite not specified [RCV004058016] Chr12:21471622..21471623 [GRCh38]
Chr12:21624556..21624557 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.478A>G (p.Met160Val) single nucleotide variant not specified [RCV004052134] Chr12:21486502 [GRCh38]
Chr12:21639436 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.423C>G (p.Ile141Met) single nucleotide variant not specified [RCV004051949] Chr12:21486557 [GRCh38]
Chr12:21639491 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.923T>C (p.Ile308Thr) single nucleotide variant not provided [RCV003718571]|not specified [RCV004055627] Chr12:21476937 [GRCh38]
Chr12:21629871 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1530C>T (p.Leu510=) single nucleotide variant not specified [RCV004058960] Chr12:21471565 [GRCh38]
Chr12:21624499 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.993_996dup (p.Ser333delinsGlyTer) duplication not specified [RCV004057705] Chr12:21475777..21475778 [GRCh38]
Chr12:21628711..21628712 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.600T>G (p.Phe200Leu) single nucleotide variant not specified [RCV004052577] Chr12:21483476 [GRCh38]
Chr12:21636410 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.215A>G (p.Asp72Gly) single nucleotide variant not provided [RCV003098675]|not specified [RCV004599383] Chr12:21490378 [GRCh38]
Chr12:21643312 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.222A>G (p.Pro74=) single nucleotide variant not provided [RCV003720621]|not specified [RCV004061827] Chr12:21490371 [GRCh38]
Chr12:21643305 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.143A>C (p.Gln48Pro) single nucleotide variant not provided [RCV003718592]|not specified [RCV004057852] Chr12:21491590 [GRCh38]
Chr12:21644524 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.686A>G (p.His229Arg) single nucleotide variant not provided [RCV003718542]|not specified [RCV004052898] Chr12:21483390 [GRCh38]
Chr12:21636324 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1536A>G (p.Pro512=) single nucleotide variant not specified [RCV004058985] Chr12:21471559 [GRCh38]
Chr12:21624493 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1537T>C (p.Leu513=) single nucleotide variant not provided [RCV003730178]|not specified [RCV004058992] Chr12:21471558 [GRCh38]
Chr12:21624492 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1539G>T (p.Leu513Phe) single nucleotide variant not specified [RCV004059001] Chr12:21471556 [GRCh38]
Chr12:21624490 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1721C>T (p.Pro574Leu) single nucleotide variant not specified [RCV004060627] Chr12:21471045 [GRCh38]
Chr12:21623979 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.873G>A (p.Arg291=) single nucleotide variant not specified [RCV004056679] Chr12:21476987 [GRCh38]
Chr12:21629921 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1406A>G (p.Glu469Gly) single nucleotide variant not provided [RCV003669301]|not specified [RCV004057158] Chr12:21473592 [GRCh38]
Chr12:21626526 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1422G>C (p.Met474Ile) single nucleotide variant not specified [RCV004057245] Chr12:21473576 [GRCh38]
Chr12:21626510 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.84T>G (p.Leu28=) single nucleotide variant not specified [RCV004056205] Chr12:21491649 [GRCh38]
Chr12:21644583 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1572A>G (p.Ala524=) single nucleotide variant not specified [RCV004059198] Chr12:21471523 [GRCh38]
Chr12:21624457 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1575A>G (p.Ala525=) single nucleotide variant not specified [RCV004057287] Chr12:21471520 [GRCh38]
Chr12:21624454 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1516C>G (p.Leu506Val) single nucleotide variant not specified [RCV004058627] Chr12:21471579 [GRCh38]
Chr12:21624513 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1516C>T (p.Leu506=) single nucleotide variant not specified [RCV004058629] Chr12:21471579 [GRCh38]
Chr12:21624513 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.316G>C (p.Gly106Arg) single nucleotide variant not specified [RCV004048825] Chr12:21490277 [GRCh38]
Chr12:21643211 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.271A>G (p.Lys91Glu) single nucleotide variant not specified [RCV004064001] Chr12:21490322 [GRCh38]
Chr12:21643256 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1427A>G (p.Asp476Gly) single nucleotide variant not specified [RCV004057265] Chr12:21473571 [GRCh38]
Chr12:21626505 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1669G>A (p.Glu557Lys) single nucleotide variant not specified [RCV004059813] Chr12:21471097 [GRCh38]
Chr12:21624031 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1710G>C (p.Leu570Phe) single nucleotide variant not specified [RCV004060569] Chr12:21471056 [GRCh38]
Chr12:21623990 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1710G>T (p.Leu570Phe) single nucleotide variant not provided [RCV003720592]|not specified [RCV004060570] Chr12:21471056 [GRCh38]
Chr12:21623990 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.769G>C (p.Ala257Pro) single nucleotide variant not specified [RCV004054593] Chr12:21477901 [GRCh38]
Chr12:21630835 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1099G>A (p.Val367Ile) single nucleotide variant not specified [RCV004063888] Chr12:21475585 [GRCh38]
Chr12:21628519 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.150A>G (p.Leu50=) single nucleotide variant not specified [RCV004058582] Chr12:21491583 [GRCh38]
Chr12:21644517 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1740C>A (p.Asn580Lys) single nucleotide variant not specified [RCV004061222] Chr12:21471026 [GRCh38]
Chr12:21623960 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.69T>C (p.Ile23=) single nucleotide variant not specified [RCV004055118] Chr12:21491664 [GRCh38]
Chr12:21644598 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1549_1552del (p.Asp517fs) microsatellite not specified [RCV004059052] Chr12:21471543..21471546 [GRCh38]
Chr12:21624477..21624480 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1274G>C (p.Arg425Thr) single nucleotide variant not specified [RCV004055613] Chr12:21474922 [GRCh38]
Chr12:21627856 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.820T>G (p.Cys274Gly) single nucleotide variant not specified [RCV004055552] Chr12:21477850 [GRCh38]
Chr12:21630784 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.863del (p.Tyr288fs) deletion not specified [RCV004056576] Chr12:21477807 [GRCh38]
Chr12:21630741 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1522G>T (p.Glu508Ter) single nucleotide variant not specified [RCV004599351] Chr12:21471573 [GRCh38]
Chr12:21624507 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1248G>C (p.Leu416Phe) single nucleotide variant not specified [RCV004056508] Chr12:21474948 [GRCh38]
Chr12:21627882 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.695G>C (p.Arg232Thr) single nucleotide variant not provided [RCV003103349]|not specified [RCV004053512] Chr12:21483381 [GRCh38]
Chr12:21636315 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.176A>G (p.Asn59Ser) single nucleotide variant not specified [RCV004061382] Chr12:21491557 [GRCh38]
Chr12:21644491 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1141C>T (p.Pro381Ser) single nucleotide variant not specified [RCV004048534] Chr12:21475543 [GRCh38]
Chr12:21628477 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1035T>C (p.His345=) single nucleotide variant not specified [RCV004057808] Chr12:21475739 [GRCh38]
Chr12:21628673 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1145A>G (p.Asp382Gly) single nucleotide variant not provided [RCV003099543]|not specified [RCV004048741] Chr12:21475539 [GRCh38]
Chr12:21628473 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.352G>A (p.Gly118Arg) single nucleotide variant not specified [RCV004048751] Chr12:21490241 [GRCh38]
Chr12:21643175 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.229G>A (p.Gly77Ser) single nucleotide variant not specified [RCV004062606] Chr12:21490364 [GRCh38]
Chr12:21643298 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1484A>T (p.Asp495Val) single nucleotide variant not specified [RCV004058468] Chr12:21471611 [GRCh38]
Chr12:21624545 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1783C>T (p.Gln595Ter) single nucleotide variant not specified [RCV004061462] Chr12:21470983 [GRCh38]
Chr12:21623917 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1718G>A (p.Gly573Glu) single nucleotide variant not specified [RCV004060601] Chr12:21471048 [GRCh38]
Chr12:21623982 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.854A>G (p.Asn285Ser) single nucleotide variant not provided [RCV002304600]|not specified [RCV004047655] Chr12:21477816 [GRCh38]
Chr12:21630750 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1385T>G (p.Phe462Cys) single nucleotide variant not specified [RCV004057048] Chr12:21473613 [GRCh38]
Chr12:21626547 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1058A>C (p.Lys353Thr) single nucleotide variant not specified [RCV004060711] Chr12:21475716 [GRCh38]
Chr12:21628650 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.161A>G (p.Asp54Gly) single nucleotide variant not specified [RCV004057510] Chr12:21491572 [GRCh38]
Chr12:21644506 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1512_1513del (p.Glu505fs) deletion not specified [RCV004058600] Chr12:21471582..21471583 [GRCh38]
Chr12:21624516..21624517 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1265A>G (p.Asp422Gly) single nucleotide variant not specified [RCV004056539] Chr12:21474931 [GRCh38]
Chr12:21627865 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.384A>G (p.Leu128=) single nucleotide variant not specified [RCV004048205] Chr12:21490209 [GRCh38]
Chr12:21643143 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1377T>C (p.Ala459=) single nucleotide variant not specified [RCV004058921] Chr12:21473621 [GRCh38]
Chr12:21626555 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.773C>T (p.Thr258Ile) single nucleotide variant not provided [RCV003099730]|not specified [RCV004054632] Chr12:21477897 [GRCh38]
Chr12:21630831 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.27G>A (p.Glu9=) single nucleotide variant not specified [RCV004062258] Chr12:21491706 [GRCh38]
Chr12:21644640 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1277T>C (p.Ile426Thr) single nucleotide variant not specified [RCV004056795] Chr12:21474919 [GRCh38]
Chr12:21627853 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1760C>T (p.Thr587Ile) single nucleotide variant not provided [RCV003476991]|not specified [RCV004061337] Chr12:21471006 [GRCh38]
Chr12:21623940 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1636A>T (p.Ile546Phe) single nucleotide variant not specified [RCV004599361] Chr12:21471459 [GRCh38]
Chr12:21624393 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.732G>C (p.Gln244His) single nucleotide variant not specified [RCV004055910] Chr12:21477938 [GRCh38]
Chr12:21630872 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1627_1629del (p.Glu543del) deletion not specified [RCV004058053] Chr12:21471466..21471468 [GRCh38]
Chr12:21624400..21624402 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.198C>G (p.Ala66=) single nucleotide variant not specified [RCV004061671] Chr12:21491535 [GRCh38]
Chr12:21644469 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1513G>T (p.Glu505Ter) single nucleotide variant not specified [RCV004058613] Chr12:21471582 [GRCh38]
Chr12:21624516 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1131A>C (p.Gly377=) single nucleotide variant not provided [RCV003099253]|not specified [RCV004048815] Chr12:21475553 [GRCh38]
Chr12:21628487 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1445G>A (p.Ser482Asn) single nucleotide variant not specified [RCV004057879] Chr12:21473553 [GRCh38]
Chr12:21626487 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.689A>G (p.Asp230Gly) single nucleotide variant not specified [RCV004052932] Chr12:21483387 [GRCh38]
Chr12:21636321 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1678A>C (p.Ser560Arg) single nucleotide variant not specified [RCV004059861] Chr12:21471088 [GRCh38]
Chr12:21624022 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1278A>G (p.Ile426Met) single nucleotide variant not specified [RCV004056818] Chr12:21474918 [GRCh38]
Chr12:21627852 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1641A>G (p.Ala547=) single nucleotide variant not specified [RCV004058138] Chr12:21471454 [GRCh38]
Chr12:21624388 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.734T>G (p.Phe245Cys) single nucleotide variant not specified [RCV004055925] Chr12:21477936 [GRCh38]
Chr12:21630870 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1584_1585del (p.Arg528fs) microsatellite RECON progeroid syndrome [RCV005008572]|not specified [RCV004057320] Chr12:21471510..21471511 [GRCh38]
Chr12:21624444..21624445 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1587A>C (p.Val529=) single nucleotide variant not specified [RCV004057334] Chr12:21471508 [GRCh38]
Chr12:21624442 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1494G>T (p.Lys498Asn) single nucleotide variant not specified [RCV004058512] Chr12:21471601 [GRCh38]
Chr12:21624535 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.932G>T (p.Arg311Ile) single nucleotide variant not specified [RCV004055691] Chr12:21476928 [GRCh38]
Chr12:21629862 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.317G>C (p.Gly106Ala) single nucleotide variant not specified [RCV004048848] Chr12:21490276 [GRCh38]
Chr12:21643210 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1548T>C (p.Ile516=) single nucleotide variant not specified [RCV004059050] Chr12:21471547 [GRCh38]
Chr12:21624481 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1607C>T (p.Thr536Ile) single nucleotide variant not provided [RCV002481083]|not specified [RCV004599357] Chr12:21471488 [GRCh38]
Chr12:21624422 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1768G>A (p.Val590Met) single nucleotide variant not specified [RCV004061377] Chr12:21470998 [GRCh38]
Chr12:21623932 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1485T>G (p.Asp495Glu) single nucleotide variant not specified [RCV004058472] Chr12:21471610 [GRCh38]
Chr12:21624544 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1620del (p.Asp541fs) deletion not specified [RCV004057518] Chr12:21471475 [GRCh38]
Chr12:21624409 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1768G>C (p.Val590Leu) single nucleotide variant not specified [RCV004599369] Chr12:21470998 [GRCh38]
Chr12:21623932 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1587A>T (p.Val529=) single nucleotide variant not specified [RCV004057336] Chr12:21471508 [GRCh38]
Chr12:21624442 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1362T>C (p.Arg454=) single nucleotide variant not provided [RCV003774288]|not specified [RCV004058849] Chr12:21473636 [GRCh38]
Chr12:21626570 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1503G>A (p.Lys501=) single nucleotide variant not specified [RCV004058552] Chr12:21471592 [GRCh38]
Chr12:21624526 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1550A>G (p.Asp517Gly) single nucleotide variant not specified [RCV004059062] Chr12:21471545 [GRCh38]
Chr12:21624479 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.694A>C (p.Arg232=) single nucleotide variant not provided [RCV003098426]|not specified [RCV004052986] Chr12:21483382 [GRCh38]
Chr12:21636316 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.695G>A (p.Arg232Lys) single nucleotide variant not specified [RCV004053511] Chr12:21483381 [GRCh38]
Chr12:21636315 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1618G>A (p.Glu540Lys) single nucleotide variant not specified [RCV004057501] Chr12:21471477 [GRCh38]
Chr12:21624411 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1619A>C (p.Glu540Ala) single nucleotide variant not specified [RCV004057503] Chr12:21471476 [GRCh38]
Chr12:21624410 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.927T>A (p.Asn309Lys) single nucleotide variant not specified [RCV004055652] Chr12:21476933 [GRCh38]
Chr12:21629867 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.867G>T (p.Glu289Asp) single nucleotide variant not specified [RCV004056624] Chr12:21477803 [GRCh38]
Chr12:21630737 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1770G>A (p.Val590=) single nucleotide variant not specified [RCV004061398] Chr12:21470996 [GRCh38]
Chr12:21623930 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1464C>T (p.Asn488=) single nucleotide variant not specified [RCV004057977] Chr12:21471631 [GRCh38]
Chr12:21624565 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1559T>A (p.Met520Lys) single nucleotide variant not specified [RCV004059114] Chr12:21471536 [GRCh38]
Chr12:21624470 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.136A>G (p.Ile46Val) single nucleotide variant not provided [RCV003730168]|not specified [RCV004058875] Chr12:21491597 [GRCh38]
Chr12:21644531 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1370T>C (p.Leu457Ser) single nucleotide variant not specified [RCV004058884] Chr12:21473628 [GRCh38]
Chr12:21626562 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1204A>G (p.Ser402Gly) single nucleotide variant not specified [RCV004053240] Chr12:21475480 [GRCh38]
Chr12:21628414 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1148T>G (p.Val383Gly) single nucleotide variant not specified [RCV004049222] Chr12:21475536 [GRCh38]
Chr12:21628470 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1755T>A (p.Ala585=) single nucleotide variant not specified [RCV004061311] Chr12:21471011 [GRCh38]
Chr12:21623945 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1554T>G (p.Ser518=) single nucleotide variant not specified [RCV004059089] Chr12:21471541 [GRCh38]
Chr12:21624475 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1129G>T (p.Gly377Ter) single nucleotide variant not provided [RCV003099207]|not specified [RCV004048372] Chr12:21475555 [GRCh38]
Chr12:21628489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.128C>T (p.Thr43Ile) single nucleotide variant not specified [RCV004058185] Chr12:21491605 [GRCh38]
Chr12:21644539 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1799C>G (p.Ala600Gly) single nucleotide variant not specified [RCV004059260] Chr12:21470345 [GRCh38]
Chr12:21623279 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.179A>G (p.Glu60Gly) single nucleotide variant not specified [RCV004059264] Chr12:21491554 [GRCh38]
Chr12:21644488 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1656G>T (p.Gln552His) single nucleotide variant RECON progeroid syndrome [RCV005008574]|not specified [RCV004059748] Chr12:21471439 [GRCh38]
Chr12:21624373 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.476C>A (p.Thr159Asn) single nucleotide variant not specified [RCV004052093] Chr12:21486504 [GRCh38]
Chr12:21639438 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.421A>T (p.Ile141Phe) single nucleotide variant not specified [RCV004051916] Chr12:21486559 [GRCh38]
Chr12:21639493 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1903G>T (p.Gly635Cys) single nucleotide variant not specified [RCV004060781] Chr12:21470241 [GRCh38]
Chr12:21623175 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1375G>A (p.Ala459Thr) single nucleotide variant not specified [RCV004058902] Chr12:21473623 [GRCh38]
Chr12:21626557 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1375G>C (p.Ala459Pro) single nucleotide variant not specified [RCV004058903] Chr12:21473623 [GRCh38]
Chr12:21626557 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.242A>G (p.Asp81Gly) single nucleotide variant not specified [RCV004063776] Chr12:21490351 [GRCh38]
Chr12:21643285 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.236_241del (p.Val79_Lys80del) deletion not specified [RCV004063294] Chr12:21490352..21490357 [GRCh38]
Chr12:21643286..21643291 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1061C>T (p.Thr354Ile) single nucleotide variant not specified [RCV004059271] Chr12:21475713 [GRCh38]
Chr12:21628647 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1666_1667+3dup duplication not provided [RCV002301036]|not specified [RCV004047641] Chr12:21471424..21471425 [GRCh38]
Chr12:21624358..21624359 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.-5A>G single nucleotide variant not specified [RCV004052553] Chr12:21499575 [GRCh38]
Chr12:21652509 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1126A>G (p.Met376Val) single nucleotide variant not specified [RCV004066351] Chr12:21475558 [GRCh38]
Chr12:21628492 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.304_308del (p.Val102fs) deletion not specified [RCV004066360] Chr12:21490285..21490289 [GRCh38]
Chr12:21643219..21643223 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1135G>C (p.Asp379His) single nucleotide variant not specified [RCV004049406] Chr12:21475549 [GRCh38]
Chr12:21628483 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1659G>C (p.Gln553His) single nucleotide variant not provided [RCV003476988]|not specified [RCV004059760] Chr12:21471436 [GRCh38]
Chr12:21624370 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1188A>C (p.Glu396Asp) single nucleotide variant not specified [RCV004050165] Chr12:21475496 [GRCh38]
Chr12:21628430 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.96A>G (p.Gln32=) single nucleotide variant not specified [RCV004057534] Chr12:21491637 [GRCh38]
Chr12:21644571 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.403C>A (p.Leu135Ile) single nucleotide variant not specified [RCV004051179] Chr12:21486577 [GRCh38]
Chr12:21639511 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.638T>G (p.Phe213Cys) single nucleotide variant not provided [RCV003718535]|not specified [RCV004053919] Chr12:21483438 [GRCh38]
Chr12:21636372 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.145T>C (p.Cys49Arg) single nucleotide variant not provided [RCV003718594]|not specified [RCV004057955] Chr12:21491588 [GRCh38]
Chr12:21644522 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1587A>G (p.Val529=) single nucleotide variant not specified [RCV004057335] Chr12:21471508 [GRCh38]
Chr12:21624442 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1698C>G (p.Thr566=) single nucleotide variant not specified [RCV004060493] Chr12:21471068 [GRCh38]
Chr12:21624002 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1896G>A (p.Gln632=) single nucleotide variant not specified [RCV004060738] Chr12:21470248 [GRCh38]
Chr12:21623182 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.120del (p.Val41fs) deletion not provided [RCV003476965]|not specified [RCV004054142] Chr12:21491613 [GRCh38]
Chr12:21644547 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.582T>G (p.Ile194Met) single nucleotide variant not provided [RCV003718526]|not specified [RCV004054161] Chr12:21483494 [GRCh38]
Chr12:21636428 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.597G>A (p.Met199Ile) single nucleotide variant not provided [RCV003776191]|not specified [RCV004052517] Chr12:21483479 [GRCh38]
Chr12:21636413 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.597G>T (p.Met199Ile) single nucleotide variant not provided [RCV003098086]|not specified [RCV004052518] Chr12:21483479 [GRCh38]
Chr12:21636413 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.304G>C (p.Val102Leu) single nucleotide variant not specified [RCV004066388] Chr12:21490289 [GRCh38]
Chr12:21643223 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.57T>G (p.His19Gln) single nucleotide variant not specified [RCV004054115] Chr12:21491676 [GRCh38]
Chr12:21644610 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1671A>G (p.Glu557=) single nucleotide variant not specified [RCV004059832] Chr12:21471095 [GRCh38]
Chr12:21624029 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.580A>G (p.Ile194Val) single nucleotide variant not specified [RCV004054131] Chr12:21483496 [GRCh38]
Chr12:21636430 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1473G>C (p.Glu491Asp) single nucleotide variant not specified [RCV004058029] Chr12:21471622 [GRCh38]
Chr12:21624556 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.508G>A (p.Val170Ile) single nucleotide variant not specified [RCV004051001] Chr12:21483568 [GRCh38]
Chr12:21636502 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1115T>G (p.Val372Gly) single nucleotide variant not specified [RCV004062267] Chr12:21475569 [GRCh38]
Chr12:21628503 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1633A>G (p.Ile545Val) single nucleotide variant not specified [RCV004058089] Chr12:21471462 [GRCh38]
Chr12:21624396 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.972G>A (p.Gln324=) single nucleotide variant not specified [RCV004057560] Chr12:21475802 [GRCh38]
Chr12:21628736 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1649T>C (p.Leu550Pro) single nucleotide variant not provided [RCV003774436]|not specified [RCV004059711] Chr12:21471446 [GRCh38]
Chr12:21624380 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1591G>C (p.Gly531Arg) single nucleotide variant not specified [RCV004057364] Chr12:21471504 [GRCh38]
Chr12:21624438 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1704G>C (p.Ser568=) single nucleotide variant not specified [RCV004060537] Chr12:21471062 [GRCh38]
Chr12:21623996 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1704G>T (p.Ser568=) single nucleotide variant not specified [RCV004060538] Chr12:21471062 [GRCh38]
Chr12:21623996 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1902T>G (p.Ser634=) single nucleotide variant not specified [RCV004060776] Chr12:21470242 [GRCh38]
Chr12:21623176 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.425C>G (p.Ser142Cys) single nucleotide variant not provided [RCV003094611]|not specified [RCV004049857] Chr12:21486555 [GRCh38]
Chr12:21639489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.880C>T (p.Pro294Ser) single nucleotide variant not provided [RCV003149027]|not specified [RCV004056731] Chr12:21476980 [GRCh38]
Chr12:21629914 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.603G>T (p.Met201Ile) single nucleotide variant not specified [RCV004052625] Chr12:21483473 [GRCh38]
Chr12:21636407 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.403C>T (p.Leu135Phe) single nucleotide variant not specified [RCV004051182] Chr12:21486577 [GRCh38]
Chr12:21639511 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1574C>G (p.Ala525Gly) single nucleotide variant not provided [RCV003718600]|not specified [RCV004057282] Chr12:21471521 [GRCh38]
Chr12:21624455 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1025G>A (p.Gly342Asp) single nucleotide variant not provided [RCV003094932]|not specified [RCV004058245] Chr12:21475749 [GRCh38]
Chr12:21628683 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.582T>C (p.Ile194=) single nucleotide variant not specified [RCV004054159] Chr12:21483494 [GRCh38]
Chr12:21636428 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.718A>G (p.Ile240Val) single nucleotide variant not provided [RCV003730130]|not specified [RCV004055336] Chr12:21477952 [GRCh38]
Chr12:21630886 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.441A>G (p.Gln147=) single nucleotide variant not provided [RCV003718502]|not specified [RCV004050666] Chr12:21486539 [GRCh38]
Chr12:21639473 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.324G>C (p.Glu108Asp) single nucleotide variant not specified [RCV004049350] Chr12:21490269 [GRCh38]
Chr12:21643203 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.910A>T (p.Ile304Phe) single nucleotide variant not specified [RCV004055006] Chr12:21476950 [GRCh38]
Chr12:21629884 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.641C>T (p.Thr214Ile) single nucleotide variant not specified [RCV004053967] Chr12:21483435 [GRCh38]
Chr12:21636369 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.911T>C (p.Ile304Thr) single nucleotide variant not provided [RCV003154253]|not specified [RCV004055013] Chr12:21476949 [GRCh38]
Chr12:21629883 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.738T>C (p.Pro246=) single nucleotide variant not specified [RCV004055974] Chr12:21477932 [GRCh38]
Chr12:21630866 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1096C>T (p.Gln366Ter) single nucleotide variant not specified [RCV004063405] Chr12:21475678 [GRCh38]
Chr12:21628612 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.426T>A (p.Ser142=) single nucleotide variant not provided [RCV003718500]|not specified [RCV004049883] Chr12:21486554 [GRCh38]
Chr12:21639488 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.883T>C (p.Ser295Pro) single nucleotide variant not specified [RCV004056754] Chr12:21476977 [GRCh38]
Chr12:21629911 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1144G>C (p.Asp382His) single nucleotide variant not specified [RCV004048702] Chr12:21475540 [GRCh38]
Chr12:21628474 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1477T>C (p.Cys493Arg) single nucleotide variant not specified [RCV004058434] Chr12:21471618 [GRCh38]
Chr12:21624552 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.727C>T (p.Arg243Trp) single nucleotide variant not specified [RCV004055836] Chr12:21477943 [GRCh38]
Chr12:21630877 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.839C>T (p.Ser280Phe) single nucleotide variant not specified [RCV004056109] Chr12:21477831 [GRCh38]
Chr12:21630765 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.531G>A (p.Met177Ile) single nucleotide variant not specified [RCV004052394] Chr12:21483545 [GRCh38]
Chr12:21636479 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.817A>C (p.Lys273Gln) single nucleotide variant not specified [RCV004055521] Chr12:21477853 [GRCh38]
Chr12:21630787 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.818del (p.Lys273fs) deletion not specified [RCV004055527] Chr12:21477852 [GRCh38]
Chr12:21630786 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.753T>C (p.Ile251=) single nucleotide variant not specified [RCV004056380] Chr12:21477917 [GRCh38]
Chr12:21630851 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.492T>C (p.Ser164=) single nucleotide variant not specified [RCV004050246] Chr12:21486488 [GRCh38]
Chr12:21639422 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1033C>T (p.His345Tyr) single nucleotide variant not specified [RCV004057151] Chr12:21475741 [GRCh38]
Chr12:21628675 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1214C>T (p.Ala405Val) single nucleotide variant not specified [RCV004052599] Chr12:21475470 [GRCh38]
Chr12:21628404 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.506A>C (p.His169Pro) single nucleotide variant not specified [RCV004050973] Chr12:21483570 [GRCh38]
Chr12:21636504 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.504G>A (p.Glu168=) single nucleotide variant not specified [RCV004050944] Chr12:21483572 [GRCh38]
Chr12:21636506 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1289T>C (p.Val430Ala) single nucleotide variant not specified [RCV004058178] Chr12:21474907 [GRCh38]
Chr12:21627841 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1624C>T (p.Leu542=) single nucleotide variant not specified [RCV004057530] Chr12:21471471 [GRCh38]
Chr12:21624405 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1356A>C (p.Lys452Asn) single nucleotide variant not specified [RCV004058812] Chr12:21473642 [GRCh38]
Chr12:21626576 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1815T>A (p.Thr605=) single nucleotide variant not specified [RCV004059346] Chr12:21470329 [GRCh38]
Chr12:21623263 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1817_1819del (p.Cys606_His607delinsTyr) deletion not specified [RCV004059352] Chr12:21470325..21470327 [GRCh38]
Chr12:21623259..21623261 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1818T>A (p.Cys606Ter) single nucleotide variant not specified [RCV004059361] Chr12:21470326 [GRCh38]
Chr12:21623260 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.436G>A (p.Asp146Asn) single nucleotide variant not specified [RCV004050073] Chr12:21486544 [GRCh38]
Chr12:21639478 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.918G>T (p.Lys306Asn) single nucleotide variant not specified [RCV004055063] Chr12:21476942 [GRCh38]
Chr12:21629876 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1478G>A (p.Cys493Tyr) single nucleotide variant not specified [RCV004058436] Chr12:21471617 [GRCh38]
Chr12:21624551 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1936dup (p.Ile646fs) duplication RECQL-related disorder [RCV004750740]|not specified [RCV004060933] Chr12:21470207..21470208 [GRCh38]
Chr12:21623141..21623142 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1658A>G (p.Gln553Arg) single nucleotide variant not specified [RCV004059757] Chr12:21471437 [GRCh38]
Chr12:21624371 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1736T>A (p.Leu579Gln) single nucleotide variant not specified [RCV004060709] Chr12:21471030 [GRCh38]
Chr12:21623964 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1870C>T (p.Gln624Ter) single nucleotide variant not specified [RCV004060104] Chr12:21470274 [GRCh38]
Chr12:21623208 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1872G>A (p.Gln624=) single nucleotide variant not specified [RCV004060112] Chr12:21470272 [GRCh38]
Chr12:21623206 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1873AAG[1] (p.Lys626del) microsatellite RECON progeroid syndrome [RCV005008579]|not provided [RCV003720599]|not specified [RCV004060133] Chr12:21470266..21470268 [GRCh38]
Chr12:21623200..21623202 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1876A>G (p.Lys626Glu) single nucleotide variant not provided [RCV003100905]|not specified [RCV004060136] Chr12:21470268 [GRCh38]
Chr12:21623202 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1490T>G (p.Ile497Ser) single nucleotide variant not specified [RCV004058496] Chr12:21471605 [GRCh38]
Chr12:21624539 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1246T>C (p.Leu416=) single nucleotide variant not specified [RCV004056435] Chr12:21474950 [GRCh38]
Chr12:21627884 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.88G>T (p.Glu30Ter) single nucleotide variant not specified [RCV004054853] Chr12:21491645 [GRCh38]
Chr12:21644579 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1491C>G (p.Ile497Met) single nucleotide variant not provided [RCV004999739]|not specified [RCV004058500] Chr12:21471604 [GRCh38]
Chr12:21624538 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1778C>T (p.Ser593Phe) single nucleotide variant not specified [RCV004061425] Chr12:21470988 [GRCh38]
Chr12:21623922 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.856C>A (p.Leu286Ile) single nucleotide variant not specified [RCV004056514] Chr12:21477814 [GRCh38]
Chr12:21630748 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.401C>G (p.Thr134Arg) single nucleotide variant not specified [RCV004051141] Chr12:21486579 [GRCh38]
Chr12:21639513 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.485A>G (p.Asn162Ser) single nucleotide variant not specified [RCV004050107] Chr12:21486495 [GRCh38]
Chr12:21639429 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.45C>G (p.Thr15=) single nucleotide variant not specified [RCV004051494] Chr12:21491688 [GRCh38]
Chr12:21644622 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1826A>G (p.Glu609Gly) single nucleotide variant not specified [RCV004059399] Chr12:21470318 [GRCh38]
Chr12:21623252 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1862G>A (p.Gly621Asp) single nucleotide variant not specified [RCV004060066] Chr12:21470282 [GRCh38]
Chr12:21623216 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.566T>C (p.Val189Ala) single nucleotide variant not specified [RCV004053678] Chr12:21483510 [GRCh38]
Chr12:21636444 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.173G>A (p.Ser58Asn) single nucleotide variant not provided [RCV003730187]|not specified [RCV004061219] Chr12:21491560 [GRCh38]
Chr12:21644494 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.833C>T (p.Thr278Ile) single nucleotide variant not specified [RCV004056052] Chr12:21477837 [GRCh38]
Chr12:21630771 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.358A>G (p.Ser120Gly) single nucleotide variant not specified [RCV004049194] Chr12:21490235 [GRCh38]
Chr12:21643169 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.933A>C (p.Arg311Ser) single nucleotide variant not specified [RCV004055694] Chr12:21476927 [GRCh38]
Chr12:21629861 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1443C>A (p.Asp481Glu) single nucleotide variant not specified [RCV004057870] Chr12:21473555 [GRCh38]
Chr12:21626489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.686A>T (p.His229Leu) single nucleotide variant not specified [RCV004052900] Chr12:21483390 [GRCh38]
Chr12:21636324 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.85A>C (p.Thr29Pro) single nucleotide variant not specified [RCV004056542] Chr12:21491648 [GRCh38]
Chr12:21644582 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1276A>G (p.Ile426Val) single nucleotide variant not provided [RCV003774170]|not specified [RCV004055689] Chr12:21474920 [GRCh38]
Chr12:21627854 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.934T>C (p.Tyr312His) single nucleotide variant not specified [RCV004055705] Chr12:21476926 [GRCh38]
Chr12:21629860 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1778C>A (p.Ser593Tyr) single nucleotide variant not specified [RCV004061424] Chr12:21470988 [GRCh38]
Chr12:21623922 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.486T>C (p.Asn162=) single nucleotide variant not specified [RCV004050132] Chr12:21486494 [GRCh38]
Chr12:21639428 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1055A>T (p.Asp352Val) single nucleotide variant not specified [RCV004060507] Chr12:21475719 [GRCh38]
Chr12:21628653 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.233A>G (p.Lys78Arg) single nucleotide variant not specified [RCV004062734] Chr12:21490360 [GRCh38]
Chr12:21643294 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1260T>C (p.Phe420=) single nucleotide variant not specified [RCV004056089] Chr12:21474936 [GRCh38]
Chr12:21627870 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1128G>A (p.Met376Ile) single nucleotide variant not specified [RCV004048291] Chr12:21475556 [GRCh38]
Chr12:21628490 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1504C>G (p.Gln502Glu) single nucleotide variant not specified [RCV004058557] Chr12:21471591 [GRCh38]
Chr12:21624525 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.859T>C (p.Tyr287His) single nucleotide variant not specified [RCV004056541] Chr12:21477811 [GRCh38]
Chr12:21630745 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.169G>A (p.Ala57Thr) single nucleotide variant not specified [RCV004060501] Chr12:21491564 [GRCh38]
Chr12:21644498 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1700T>C (p.Ile567Thr) single nucleotide variant not specified [RCV004060511] Chr12:21471066 [GRCh38]
Chr12:21624000 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.439C>G (p.Gln147Glu) single nucleotide variant not specified [RCV004050626] Chr12:21486541 [GRCh38]
Chr12:21639475 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.403C>G (p.Leu135Val) single nucleotide variant not specified [RCV004051180] Chr12:21486577 [GRCh38]
Chr12:21639511 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.128C>A (p.Thr43Lys) single nucleotide variant not specified [RCV004058183] Chr12:21491605 [GRCh38]
Chr12:21644539 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1355A>G (p.Lys452Arg) single nucleotide variant not specified [RCV004058808] Chr12:21474841 [GRCh38]
Chr12:21627775 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1359T>G (p.Cys453Trp) single nucleotide variant not specified [RCV004058831] Chr12:21473639 [GRCh38]
Chr12:21626573 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.526G>C (p.Glu176Gln) single nucleotide variant not provided [RCV003156381]|not specified [RCV004052314] Chr12:21483550 [GRCh38]
Chr12:21636484 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.802A>G (p.Ile268Val) single nucleotide variant not specified [RCV004055392] Chr12:21477868 [GRCh38]
Chr12:21630802 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1059G>T (p.Lys353Asn) single nucleotide variant not specified [RCV004061345] Chr12:21475715 [GRCh38]
Chr12:21628649 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.381A>C (p.Ala127=) single nucleotide variant not specified [RCV004048147] Chr12:21490212 [GRCh38]
Chr12:21643146 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1448C>T (p.Ala483Val) single nucleotide variant not specified [RCV004057890] Chr12:21471647 [GRCh38]
Chr12:21624581 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1744G>A (p.Glu582Lys) single nucleotide variant not specified [RCV004061245] Chr12:21471022 [GRCh38]
Chr12:21623956 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.489T>C (p.Ala163=) single nucleotide variant not specified [RCV004050178] Chr12:21486491 [GRCh38]
Chr12:21639425 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.805T>G (p.Leu269Val) single nucleotide variant not specified [RCV004055413] Chr12:21477865 [GRCh38]
Chr12:21630799 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1871A>C (p.Gln624Pro) single nucleotide variant not specified [RCV004060106] Chr12:21470273 [GRCh38]
Chr12:21623207 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.735C>G (p.Phe245Leu) single nucleotide variant not specified [RCV004055931] Chr12:21477935 [GRCh38]
Chr12:21630869 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.736C>G (p.Pro246Ala) single nucleotide variant not specified [RCV004055948] Chr12:21477934 [GRCh38]
Chr12:21630868 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1898A>G (p.Gln633Arg) single nucleotide variant not specified [RCV004060745] Chr12:21470246 [GRCh38]
Chr12:21623180 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1277T>G (p.Ile426Arg) single nucleotide variant not provided [RCV002296556] Chr12:21474919 [GRCh38]
Chr12:21627853 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1116T>C (p.Val372=) single nucleotide variant not specified [RCV004062308] Chr12:21475568 [GRCh38]
Chr12:21628502 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1174A>C (p.Ser392Arg) single nucleotide variant not specified [RCV004050622] Chr12:21475510 [GRCh38]
Chr12:21628444 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.433G>C (p.Glu145Gln) single nucleotide variant not specified [RCV004050022] Chr12:21486547 [GRCh38]
Chr12:21639481 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1919G>A (p.Gly640Glu) single nucleotide variant not specified [RCV004060849] Chr12:21470225 [GRCh38]
Chr12:21623159 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.529A>C (p.Met177Leu) single nucleotide variant not specified [RCV004052359] Chr12:21483547 [GRCh38]
Chr12:21636481 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1259T>C (p.Phe420Ser) single nucleotide variant not specified [RCV004055566] Chr12:21474937 [GRCh38]
Chr12:21627871 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1874del (p.Lys625fs) deletion not specified [RCV004060122] Chr12:21470270 [GRCh38]
Chr12:21623204 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1290G>A (p.Val430=) single nucleotide variant not specified [RCV004058192] Chr12:21474906 [GRCh38]
Chr12:21627840 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1005G>C (p.Gln335His) single nucleotide variant not provided [RCV003151895]|not specified [RCV004060774] Chr12:21475769 [GRCh38]
Chr12:21628703 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1838A>C (p.Lys613Thr) single nucleotide variant not specified [RCV004059448] Chr12:21470306 [GRCh38]
Chr12:21623240 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1839A>G (p.Lys613=) single nucleotide variant not specified [RCV004059967] Chr12:21470305 [GRCh38]
Chr12:21623239 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1841_1844dup (p.Met615fs) duplication not specified [RCV004059978] Chr12:21470299..21470300 [GRCh38]
Chr12:21623233..21623234 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1842G>T (p.Lys614Asn) single nucleotide variant not specified [RCV004059986] Chr12:21470302 [GRCh38]
Chr12:21623236 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1590A>C (p.Ala530=) single nucleotide variant not specified [RCV004057360] Chr12:21471505 [GRCh38]
Chr12:21624439 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1725A>G (p.Lys575=) single nucleotide variant not specified [RCV004060650] Chr12:21471041 [GRCh38]
Chr12:21623975 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1867T>G (p.Phe623Val) single nucleotide variant not specified [RCV004060086] Chr12:21470277 [GRCh38]
Chr12:21623211 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1601C>T (p.Ala534Val) single nucleotide variant not specified [RCV004057422] Chr12:21471494 [GRCh38]
Chr12:21624428 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1603_1621del (p.Pro535fs) deletion not specified [RCV004057429] Chr12:21471474..21471492 [GRCh38]
Chr12:21624408..21624426 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.477C>T (p.Thr159=) single nucleotide variant not specified [RCV004052112] Chr12:21486503 [GRCh38]
Chr12:21639437 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.737C>T (p.Pro246Leu) single nucleotide variant not specified [RCV004055962] Chr12:21477933 [GRCh38]
Chr12:21630867 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1835A>G (p.Asp612Gly) single nucleotide variant not specified [RCV004059439] Chr12:21470309 [GRCh38]
Chr12:21623243 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.557T>C (p.Leu186Pro) single nucleotide variant not specified [RCV004053552] Chr12:21483519 [GRCh38]
Chr12:21636453 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1838A>G (p.Lys613Arg) single nucleotide variant not provided [RCV003097288]|not specified [RCV004059449] Chr12:21470306 [GRCh38]
Chr12:21623240 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1697C>T (p.Thr566Ile) single nucleotide variant not specified [RCV004060488] Chr12:21471069 [GRCh38]
Chr12:21624003 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.649G>A (p.Ala217Thr) single nucleotide variant not specified [RCV004054330] Chr12:21483427 [GRCh38]
Chr12:21636361 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.613G>A (p.Glu205Lys) single nucleotide variant not provided [RCV003098152]|not specified [RCV004053304] Chr12:21483463 [GRCh38]
Chr12:21636397 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1426G>T (p.Asp476Tyr) single nucleotide variant not specified [RCV004057263] Chr12:21473572 [GRCh38]
Chr12:21626506 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.220C>T (p.Pro74Ser) single nucleotide variant not specified [RCV004061761] Chr12:21490373 [GRCh38]
Chr12:21643307 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.608G>T (p.Arg203Ile) single nucleotide variant not provided [RCV003098130]|not specified [RCV004052697] Chr12:21483468 [GRCh38]
Chr12:21636402 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.408C>T (p.Val136=) single nucleotide variant not specified [RCV004051302] Chr12:21486572 [GRCh38]
Chr12:21639506 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1656G>A (p.Gln552=) single nucleotide variant not provided [RCV003720590]|not specified [RCV004059746] Chr12:21471439 [GRCh38]
Chr12:21624373 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.725dup (p.Arg243fs) duplication not specified [RCV004055817] Chr12:21477944..21477945 [GRCh38]
Chr12:21630878..21630879 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1844T>C (p.Met615Thr) single nucleotide variant not specified [RCV004059995] Chr12:21470300 [GRCh38]
Chr12:21623234 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1581G>C (p.Leu527=) single nucleotide variant not specified [RCV004057307] Chr12:21471514 [GRCh38]
Chr12:21624448 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1672G>T (p.Asp558Tyr) single nucleotide variant not specified [RCV004059840] Chr12:21471094 [GRCh38]
Chr12:21624028 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1433G>A (p.Cys478Tyr) single nucleotide variant not specified [RCV004057818] Chr12:21473565 [GRCh38]
Chr12:21626499 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1216G>T (p.Gly406Cys) single nucleotide variant not specified [RCV004053299] Chr12:21475468 [GRCh38]
Chr12:21628402 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.22del (p.Thr8fs) deletion not specified [RCV004062612] Chr12:21491711 [GRCh38]
Chr12:21644645 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1579C>T (p.Leu527=) single nucleotide variant not specified [RCV004057297] Chr12:21471516 [GRCh38]
Chr12:21624450 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.298A>G (p.Ile100Val) single nucleotide variant not specified [RCV004065449] Chr12:21490295 [GRCh38]
Chr12:21643229 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1604C>A (p.Pro535His) single nucleotide variant not specified [RCV004057432] Chr12:21471491 [GRCh38]
Chr12:21624425 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1605C>A (p.Pro535=) single nucleotide variant not specified [RCV004057437] Chr12:21471490 [GRCh38]
Chr12:21624424 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1931G>T (p.Arg644Ile) single nucleotide variant not provided [RCV003476998]|not specified [RCV004060916] Chr12:21470213 [GRCh38]
Chr12:21623147 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1847del (p.Glu616fs) deletion not specified [RCV004060006] Chr12:21470297 [GRCh38]
Chr12:21623231 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1849del (p.Glu617fs) deletion not specified [RCV004060018] Chr12:21470295 [GRCh38]
Chr12:21623229 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1338C>T (p.Tyr446=) single nucleotide variant not provided [RCV003094991]|not specified [RCV004058714] Chr12:21474858 [GRCh38]
Chr12:21627792 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1520A>T (p.Asn507Ile) single nucleotide variant not provided [RCV003095283]|not specified [RCV004058650] Chr12:21471575 [GRCh38]
Chr12:21624509 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1515del (p.Glu505fs) deletion not specified [RCV004058623] Chr12:21471580 [GRCh38]
Chr12:21624514 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1517T>A (p.Leu506Gln) single nucleotide variant not specified [RCV004058637] Chr12:21471578 [GRCh38]
Chr12:21624512 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.943C>A (p.Gln315Lys) single nucleotide variant not specified [RCV004056802] Chr12:21476917 [GRCh38]
Chr12:21629851 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.448G>A (p.Val150Ile) single nucleotide variant not specified [RCV004050789] Chr12:21486532 [GRCh38]
Chr12:21639466 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1350A>G (p.Ile450Met) single nucleotide variant not specified [RCV004599341] Chr12:21474846 [GRCh38]
Chr12:21627780 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.829T>C (p.Phe277Leu) single nucleotide variant not provided [RCV003120974]|not specified [RCV004056017] Chr12:21477841 [GRCh38]
Chr12:21630775 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1250A>G (p.Tyr417Cys) single nucleotide variant not provided [RCV003120963]|not specified [RCV004054670] Chr12:21474946 [GRCh38]
Chr12:21627880 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1802A>C (p.Glu601Ala) single nucleotide variant not specified [RCV004059278] Chr12:21470342 [GRCh38]
Chr12:21623276 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1106T>C (p.Val369Ala) single nucleotide variant not specified [RCV004062930] Chr12:21475578 [GRCh38]
Chr12:21628512 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.125T>C (p.Leu42Pro) single nucleotide variant not specified [RCV004056018] Chr12:21491608 [GRCh38]
Chr12:21644542 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1306G>C (p.Gly436Arg) single nucleotide variant not specified [RCV004058282] Chr12:21474890 [GRCh38]
Chr12:21627824 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.171A>G (p.Ala57=) single nucleotide variant not specified [RCV004060608] Chr12:21491562 [GRCh38]
Chr12:21644496 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1730A>C (p.Asn577Thr) single nucleotide variant not provided [RCV003108085]|not specified [RCV004599367] Chr12:21471036 [GRCh38]
Chr12:21623970 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.-4A>T single nucleotide variant not specified [RCV004050874] Chr12:21499574 [GRCh38]
Chr12:21652508 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.38C>T (p.Ser13Phe) single nucleotide variant not provided [RCV003094433]|not specified [RCV004050361] Chr12:21491695 [GRCh38]
Chr12:21644629 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.394G>C (p.Gly132Arg) single nucleotide variant not specified [RCV004050462] Chr12:21490199 [GRCh38]
Chr12:21643133 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1387G>A (p.Asp463Asn) single nucleotide variant not specified [RCV004057062] Chr12:21473611 [GRCh38]
Chr12:21626545 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.516G>C (p.Trp172Cys) single nucleotide variant not specified [RCV004051634] Chr12:21483560 [GRCh38]
Chr12:21636494 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1814C>A (p.Thr605Asn) single nucleotide variant not specified [RCV004059339] Chr12:21470330 [GRCh38]
Chr12:21623264 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1814C>T (p.Thr605Ile) single nucleotide variant not specified [RCV004059341] Chr12:21470330 [GRCh38]
Chr12:21623264 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.611T>A (p.Leu204Gln) single nucleotide variant not provided [RCV002302629]|not specified [RCV004047643] Chr12:21483465 [GRCh38]
Chr12:21636399 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.581T>C (p.Ile194Thr) single nucleotide variant not specified [RCV004054141] Chr12:21483495 [GRCh38]
Chr12:21636429 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.207T>A (p.Asn69Lys) single nucleotide variant not provided [RCV003149034]|not specified [RCV004060259] Chr12:21491526 [GRCh38]
Chr12:21644460 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.957A>G (p.Ile319Met) single nucleotide variant not specified [RCV004056928] Chr12:21475817 [GRCh38]
Chr12:21628751 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.959A>G (p.Tyr320Cys) single nucleotide variant not specified [RCV004056945] Chr12:21475815 [GRCh38]
Chr12:21628749 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1540A>G (p.Lys514Glu) single nucleotide variant not specified [RCV004059016] Chr12:21471555 [GRCh38]
Chr12:21624489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.822TTTTAC[1] (p.275FT[1]) microsatellite not provided [RCV003730146]|not specified [RCV004055999] Chr12:21477837..21477842 [GRCh38]
Chr12:21630771..21630776 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1156G>A (p.Val386Ile) single nucleotide variant not specified [RCV004048198] Chr12:21475528 [GRCh38]
Chr12:21628462 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.776A>G (p.Asn259Ser) single nucleotide variant not specified [RCV004054661] Chr12:21477894 [GRCh38]
Chr12:21630828 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.35A>T (p.Asp12Val) single nucleotide variant not specified [RCV004049208] Chr12:21491698 [GRCh38]
Chr12:21644632 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.584C>G (p.Ala195Gly) single nucleotide variant not specified [RCV004054187] Chr12:21483492 [GRCh38]
Chr12:21636426 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395G>T (p.Gly132Val) single nucleotide variant not specified [RCV004050481] Chr12:21486585 [GRCh38]
Chr12:21639519 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1161C>T (p.Ile387=) single nucleotide variant not provided [RCV003094478]|not specified [RCV004050577] Chr12:21475523 [GRCh38]
Chr12:21628457 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.145T>G (p.Cys49Gly) single nucleotide variant not specified [RCV004057956] Chr12:21491588 [GRCh38]
Chr12:21644522 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.51G>A (p.Glu17=) single nucleotide variant not specified [RCV004051686] Chr12:21491682 [GRCh38]
Chr12:21644616 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.117A>C (p.Lys39Asn) single nucleotide variant not specified [RCV004051463] Chr12:21491616 [GRCh38]
Chr12:21644550 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.458A>C (p.Gln153Pro) single nucleotide variant not specified [RCV004051468] Chr12:21486522 [GRCh38]
Chr12:21639456 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.583G>A (p.Ala195Thr) single nucleotide variant not specified [RCV004054173] Chr12:21483493 [GRCh38]
Chr12:21636427 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.395-4_399dup duplication not specified [RCV004050469] Chr12:21486580..21486581 [GRCh38]
Chr12:21639514..21639515 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1556G>A (p.Trp519Ter) single nucleotide variant not provided [RCV003096929]|not specified [RCV004059096] Chr12:21471539 [GRCh38]
Chr12:21624473 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1640C>T (p.Ala547Val) single nucleotide variant not provided [RCV003100766]|not specified [RCV004058134] Chr12:21471455 [GRCh38]
Chr12:21624389 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.906G>A (p.Glu302=) single nucleotide variant not specified [RCV004054965] Chr12:21476954 [GRCh38]
Chr12:21629888 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1239C>A (p.Asp413Glu) single nucleotide variant not provided [RCV003718547]|not specified [RCV004055738] Chr12:21474957 [GRCh38]
Chr12:21627891 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1378C>T (p.Gln460Ter) single nucleotide variant not specified [RCV004058927] Chr12:21473620 [GRCh38]
Chr12:21626554 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1224T>C (p.Asp408=) single nucleotide variant not specified [RCV004054346] Chr12:21474972 [GRCh38]
Chr12:21627906 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1679G>C (p.Ser560Thr) single nucleotide variant not specified [RCV004059866] Chr12:21471087 [GRCh38]
Chr12:21624021 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.781G>A (p.Val261Ile) single nucleotide variant not provided [RCV003099756]|not specified [RCV004054710] Chr12:21477889 [GRCh38]
Chr12:21630823 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.367T>C (p.Tyr123His) single nucleotide variant not specified [RCV004049652] Chr12:21490226 [GRCh38]
Chr12:21643160 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.851C>A (p.Pro284Gln) single nucleotide variant not specified [RCV004056213] Chr12:21477819 [GRCh38]
Chr12:21630753 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1150A>G (p.Arg384Gly) single nucleotide variant not specified [RCV004049673] Chr12:21475534 [GRCh38]
Chr12:21628468 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.139A>T (p.Lys47Ter) single nucleotide variant not specified [RCV004057125] Chr12:21491594 [GRCh38]
Chr12:21644528 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1163A>G (p.His388Arg) single nucleotide variant not specified [RCV004051234] Chr12:21475521 [GRCh38]
Chr12:21628455 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.398T>C (p.Phe133Ser) single nucleotide variant not specified [RCV004050548] Chr12:21486582 [GRCh38]
Chr12:21639516 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.697C>T (p.Pro233Ser) single nucleotide variant not provided [RCV003108051]|not specified [RCV004053531] Chr12:21483379 [GRCh38]
Chr12:21636313 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.59C>G (p.Ala20Gly) single nucleotide variant not specified [RCV004052548] Chr12:21491674 [GRCh38]
Chr12:21644608 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV003718530]|not specified [RCV004052554] Chr12:21499566 [GRCh38]
Chr12:21652500 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1160T>C (p.Ile387Thr) single nucleotide variant not specified [RCV004050523] Chr12:21475524 [GRCh38]
Chr12:21628458 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1729A>C (p.Asn577His) single nucleotide variant not provided [RCV003097185]|not specified [RCV004599366] Chr12:21471037 [GRCh38]
Chr12:21623971 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_002907.4(RECQL):c.1194T>A (p.Tyr398Ter) single nucleotide variant not specified [RCV004051102] Chr12:21475490 [GRCh38]
Chr12:21628424 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.949+9A>C single nucleotide variant not provided [RCV002861501] Chr12:21476902 [GRCh38]
Chr12:21629836 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.949+4A>G single nucleotide variant not provided [RCV002681848] Chr12:21476907 [GRCh38]
Chr12:21629841 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.926A>G (p.Asn309Ser) single nucleotide variant not provided [RCV002616585]|not specified [RCV004070561] Chr12:21476934 [GRCh38]
Chr12:21629868 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1786A>C (p.Asn596His) single nucleotide variant not provided [RCV002681701] Chr12:21470980 [GRCh38]
Chr12:21623914 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.868-14T>G single nucleotide variant not provided [RCV002843675] Chr12:21477006 [GRCh38]
Chr12:21629940 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.949+8A>T single nucleotide variant not provided [RCV003097643] Chr12:21476903 [GRCh38]
Chr12:21629837 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1765C>T (p.Gln589Ter) single nucleotide variant not provided [RCV002614867] Chr12:21471001 [GRCh38]
Chr12:21623935 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.950-17C>T single nucleotide variant not provided [RCV002755070] Chr12:21475841 [GRCh38]
Chr12:21628775 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.615G>T (p.Glu205Asp) single nucleotide variant not provided [RCV002734864]|not specified [RCV004067688] Chr12:21483461 [GRCh38]
Chr12:21636395 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.752T>C (p.Ile251Thr) single nucleotide variant not provided [RCV002615635] Chr12:21477918 [GRCh38]
Chr12:21630852 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1217-16G>T single nucleotide variant not provided [RCV003017481] Chr12:21474995 [GRCh38]
Chr12:21627929 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.257T>A (p.Val86Asp) single nucleotide variant not provided [RCV002996590] Chr12:21490336 [GRCh38]
Chr12:21643270 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.169G>C (p.Ala57Pro) single nucleotide variant not provided [RCV002636520]|not specified [RCV004070491] Chr12:21491564 [GRCh38]
Chr12:21644498 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1485T>A (p.Asp495Glu) single nucleotide variant not provided [RCV002695085] Chr12:21471610 [GRCh38]
Chr12:21624544 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.820del (p.Cys274fs) deletion not provided [RCV002785446]|not specified [RCV004064646] Chr12:21477850 [GRCh38]
Chr12:21630784 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.605C>G (p.Ser202Ter) single nucleotide variant not provided [RCV002572088] Chr12:21483471 [GRCh38]
Chr12:21636405 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.701-16_701-15del deletion not provided [RCV003021807] Chr12:21477984..21477985 [GRCh38]
Chr12:21630918..21630919 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1763T>C (p.Met588Thr) single nucleotide variant not provided [RCV003035515] Chr12:21471003 [GRCh38]
Chr12:21623937 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.748C>T (p.Leu250=) single nucleotide variant not provided [RCV002619800] Chr12:21477922 [GRCh38]
Chr12:21630856 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1448-12_1448-8del deletion not provided [RCV002510225] Chr12:21471655..21471659 [GRCh38]
Chr12:21624589..21624593 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.825T>C (p.Phe275=) single nucleotide variant not provided [RCV002797295] Chr12:21477845 [GRCh38]
Chr12:21630779 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1217-26_1217-16del deletion not provided [RCV002885993] Chr12:21474995..21475005 [GRCh38]
Chr12:21627929..21627939 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.394+10A>G single nucleotide variant not provided [RCV002621048] Chr12:21490189 [GRCh38]
Chr12:21643123 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.754G>C (p.Gly252Arg) single nucleotide variant not provided [RCV002846576] Chr12:21477916 [GRCh38]
Chr12:21630850 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.58G>A (p.Ala20Thr) single nucleotide variant not provided [RCV002756864] Chr12:21491675 [GRCh38]
Chr12:21644609 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1356-11T>C single nucleotide variant not provided [RCV002952878] Chr12:21473653 [GRCh38]
Chr12:21626587 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1217-2A>C single nucleotide variant not provided [RCV003021375] Chr12:21474981 [GRCh38]
Chr12:21627915 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.608G>A (p.Arg203Lys) single nucleotide variant not provided [RCV002795479]|not specified [RCV004064781] Chr12:21483468 [GRCh38]
Chr12:21636402 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.422T>C (p.Ile141Thr) single nucleotide variant not provided [RCV002620592]|not specified [RCV004661587] Chr12:21486558 [GRCh38]
Chr12:21639492 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1882G>A (p.Ala628Thr) single nucleotide variant not specified [RCV004157050] Chr12:21470262 [GRCh38]
Chr12:21623196 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1750C>A (p.His584Asn) single nucleotide variant not provided [RCV003057754] Chr12:21471016 [GRCh38]
Chr12:21623950 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.236T>C (p.Val79Ala) single nucleotide variant not provided [RCV003043679]|not specified [RCV004068735] Chr12:21490357 [GRCh38]
Chr12:21643291 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1913A>T (p.Asn638Ile) single nucleotide variant not provided [RCV002574013] Chr12:21470231 [GRCh38]
Chr12:21623165 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1544T>G (p.Leu515Arg) single nucleotide variant not provided [RCV002801471]|not specified [RCV004857922] Chr12:21471551 [GRCh38]
Chr12:21624485 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.363dup (p.Cys122fs) duplication not provided [RCV003055991] Chr12:21490229..21490230 [GRCh38]
Chr12:21643163..21643164 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.525_533dup (p.Val178_Asn179insGluMetVal) duplication not provided [RCV002801765] Chr12:21483542..21483543 [GRCh38]
Chr12:21636476..21636477 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1947C>G (p.Ala649=) single nucleotide variant not provided [RCV002802079] Chr12:21470197 [GRCh38]
Chr12:21623131 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.151G>A (p.Glu51Lys) single nucleotide variant not provided [RCV002594696] Chr12:21491582 [GRCh38]
Chr12:21644516 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.867+18C>G single nucleotide variant not provided [RCV003024284] Chr12:21477785 [GRCh38]
Chr12:21630719 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1797+5A>G single nucleotide variant not provided [RCV002932377] Chr12:21470964 [GRCh38]
Chr12:21623898 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1163A>C (p.His388Pro) single nucleotide variant not provided [RCV002790957] Chr12:21475521 [GRCh38]
Chr12:21628455 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.936C>T (p.Tyr312=) single nucleotide variant not provided [RCV002581701]|not specified [RCV004847946] Chr12:21476924 [GRCh38]
Chr12:21629858 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1797+20C>T single nucleotide variant not provided [RCV002720867] Chr12:21470949 [GRCh38]
Chr12:21623883 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1448-17T>C single nucleotide variant not provided [RCV002900088] Chr12:21471664 [GRCh38]
Chr12:21624598 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1175G>A (p.Ser392Asn) single nucleotide variant not provided [RCV002602715]|not specified [RCV004068793] Chr12:21475509 [GRCh38]
Chr12:21628443 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.143A>G (p.Gln48Arg) single nucleotide variant not provided [RCV002581547]|not specified [RCV004857948] Chr12:21491590 [GRCh38]
Chr12:21644524 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.325G>T (p.Val109Leu) single nucleotide variant not provided [RCV002675640] Chr12:21490268 [GRCh38]
Chr12:21643202 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1581G>A (p.Leu527=) single nucleotide variant not provided [RCV002649738] Chr12:21471514 [GRCh38]
Chr12:21624448 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.89A>G (p.Glu30Gly) single nucleotide variant not specified [RCV004137312] Chr12:21491644 [GRCh38]
Chr12:21644578 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.17-7C>T single nucleotide variant not provided [RCV002599641] Chr12:21491723 [GRCh38]
Chr12:21644657 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1356-18C>G single nucleotide variant not provided [RCV002645851] Chr12:21473660 [GRCh38]
Chr12:21626594 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.119_120insG (p.Val41fs) insertion not provided [RCV003044904] Chr12:21491613..21491614 [GRCh38]
Chr12:21644547..21644548 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.950-502_1022del deletion not provided [RCV002812153] Chr12:21475752..21476326 [GRCh38]
Chr12:21628686..21629260 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1722T>C (p.Pro574=) single nucleotide variant not provided [RCV002746321] Chr12:21471044 [GRCh38]
Chr12:21623978 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1217-10C>T single nucleotide variant not provided [RCV003065519] Chr12:21474989 [GRCh38]
Chr12:21627923 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1609C>T (p.Leu537Phe) single nucleotide variant not provided [RCV003059939] Chr12:21471486 [GRCh38]
Chr12:21624420 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.16+13G>C single nucleotide variant not provided [RCV002583094] Chr12:21499542 [GRCh38]
Chr12:21652476 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.256G>T (p.Val86Phe) single nucleotide variant not provided [RCV002635796]|not specified [RCV004847917] Chr12:21490337 [GRCh38]
Chr12:21643271 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1801G>A (p.Glu601Lys) single nucleotide variant not provided [RCV003093257] Chr12:21470343 [GRCh38]
Chr12:21623277 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1447+12_1447+14del microsatellite not provided [RCV002605402] Chr12:21473537..21473539 [GRCh38]
Chr12:21626471..21626473 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1667+3A>G single nucleotide variant not provided [RCV002606460] Chr12:21471425 [GRCh38]
Chr12:21624359 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.651T>C (p.Ala217=) single nucleotide variant not provided [RCV002606026] Chr12:21483425 [GRCh38]
Chr12:21636359 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1488A>C (p.Leu496=) single nucleotide variant not provided [RCV002610822] Chr12:21471607 [GRCh38]
Chr12:21624541 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1355+9C>T single nucleotide variant not provided [RCV002588624] Chr12:21474832 [GRCh38]
Chr12:21627766 [GRCh37]
Chr12:12p12.1
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_002907.4(RECQL):c.395-75_395-73del deletion Hereditary cancer [RCV004698961] Chr12:21486658..21486660 [GRCh38]
Chr12:21639592..21639594 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.558G>T (p.Leu186=) single nucleotide variant not specified [RCV004243556] Chr12:21483518 [GRCh38]
Chr12:21636452 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1567G>C (p.Gly523Arg) single nucleotide variant not specified [RCV004243557] Chr12:21471528 [GRCh38]
Chr12:21624462 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1715T>C (p.Ile572Thr) single nucleotide variant not specified [RCV004244928] Chr12:21471051 [GRCh38]
Chr12:21623985 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1569T>G (p.Gly523=) single nucleotide variant not specified [RCV004244931] Chr12:21471526 [GRCh38]
Chr12:21624460 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.3:c.1066_1067insALU insertion not specified [RCV004244932]   uncertain significance
NM_002907.4(RECQL):c.1456A>G (p.Arg486Gly) single nucleotide variant not specified [RCV004244934] Chr12:21471639 [GRCh38]
Chr12:21624573 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.277A>G (p.Arg93Gly) single nucleotide variant not specified [RCV004266844] Chr12:21490316 [GRCh38]
Chr12:21643250 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.307A>C (p.Thr103Pro) single nucleotide variant not specified [RCV004246207] Chr12:21490286 [GRCh38]
Chr12:21643220 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.550T>C (p.Leu184=) single nucleotide variant not specified [RCV004246199] Chr12:21483526 [GRCh38]
Chr12:21636460 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1885_1889del (p.Asn629fs) deletion not specified [RCV004244933] Chr12:21470255..21470259 [GRCh38]
Chr12:21623189..21623193 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1572A>C (p.Ala524=) single nucleotide variant not specified [RCV004244935] Chr12:21471523 [GRCh38]
Chr12:21624457 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.405C>A (p.Leu135=) single nucleotide variant not specified [RCV004244936] Chr12:21486575 [GRCh38]
Chr12:21639509 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1857T>C (p.Asn619=) single nucleotide variant not specified [RCV004255576] Chr12:21470287 [GRCh38]
Chr12:21623221 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.144G>T (p.Gln48His) single nucleotide variant not specified [RCV004244924] Chr12:21491589 [GRCh38]
Chr12:21644523 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.811A>T (p.Ile271Phe) single nucleotide variant not specified [RCV004244925] Chr12:21477859 [GRCh38]
Chr12:21630793 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1321dup (p.Tyr441fs) duplication not specified [RCV004244927] Chr12:21474874..21474875 [GRCh38]
Chr12:21627808..21627809 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1773A>C (p.Thr591=) single nucleotide variant not specified [RCV004244938] Chr12:21470993 [GRCh38]
Chr12:21623927 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1471G>C (p.Glu491Gln) single nucleotide variant not specified [RCV004262392] Chr12:21471624 [GRCh38]
Chr12:21624558 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1473_1501del (p.Tyr492fs) deletion not specified [RCV004243554] Chr12:21471594..21471622 [GRCh38]
Chr12:21624528..21624556 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1643_1644del (p.His548fs) microsatellite RECON progeroid syndrome [RCV005012793]|not specified [RCV004243555] Chr12:21471451..21471452 [GRCh38]
Chr12:21624385..21624386 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1258T>C (p.Phe420Leu) single nucleotide variant not specified [RCV004243558] Chr12:21474938 [GRCh38]
Chr12:21627872 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1453G>C (p.Glu485Gln) single nucleotide variant not specified [RCV004243560] Chr12:21471642 [GRCh38]
Chr12:21624576 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1631A>G (p.Lys544Arg) single nucleotide variant not specified [RCV004244903] Chr12:21471464 [GRCh38]
Chr12:21624398 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1515A>T (p.Glu505Asp) single nucleotide variant not specified [RCV004244907] Chr12:21471580 [GRCh38]
Chr12:21624514 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1123G>A (p.Gly375Ser) single nucleotide variant not specified [RCV004244909] Chr12:21475561 [GRCh38]
Chr12:21628495 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.95A>C (p.Gln32Pro) single nucleotide variant not specified [RCV004244913] Chr12:21491638 [GRCh38]
Chr12:21644572 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.406_408del (p.Val136del) deletion not specified [RCV004244916] Chr12:21486572..21486574 [GRCh38]
Chr12:21639506..21639508 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1165C>T (p.His389Tyr) single nucleotide variant not specified [RCV004244926] Chr12:21475519 [GRCh38]
Chr12:21628453 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.804T>G (p.Ile268Met) single nucleotide variant not specified [RCV004244929] Chr12:21477866 [GRCh38]
Chr12:21630800 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1506G>C (p.Gln502His) single nucleotide variant not specified [RCV004246201] Chr12:21471589 [GRCh38]
Chr12:21624523 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1612C>G (p.Pro538Ala) single nucleotide variant not specified [RCV004246202] Chr12:21471483 [GRCh38]
Chr12:21624417 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.336dup (p.Met113fs) duplication not specified [RCV004246204] Chr12:21490256..21490257 [GRCh38]
Chr12:21643190..21643191 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1410A>G (p.Ala470=) single nucleotide variant not provided [RCV003730413]|not specified [RCV004246205] Chr12:21473588 [GRCh38]
Chr12:21626522 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.49G>A (p.Glu17Lys) single nucleotide variant not specified [RCV004246209] Chr12:21491684 [GRCh38]
Chr12:21644618 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1426G>C (p.Asp476His) single nucleotide variant not specified [RCV004246208] Chr12:21473572 [GRCh38]
Chr12:21626506 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1441G>T (p.Asp481Tyr) single nucleotide variant not specified [RCV004331536] Chr12:21473557 [GRCh38]
Chr12:21626491 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.876G>C (p.Gln292His) single nucleotide variant not specified [RCV004331551] Chr12:21476984 [GRCh38]
Chr12:21629918 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1742A>T (p.Asn581Ile) single nucleotide variant not specified [RCV004331552] Chr12:21471024 [GRCh38]
Chr12:21623958 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1381C>T (p.His461Tyr) single nucleotide variant not specified [RCV004331553] Chr12:21473617 [GRCh38]
Chr12:21626551 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.72A>G (p.Gln24=) single nucleotide variant not provided [RCV003738391]|not specified [RCV004255638] Chr12:21491661 [GRCh38]
Chr12:21644595 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.835G>A (p.Ala279Thr) single nucleotide variant not specified [RCV004255615] Chr12:21477835 [GRCh38]
Chr12:21630769 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1760C>A (p.Thr587Asn) single nucleotide variant not provided [RCV003720774]|not specified [RCV004246200] Chr12:21471006 [GRCh38]
Chr12:21623940 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.593A>C (p.Lys198Thr) single nucleotide variant not provided [RCV003227359] Chr12:21483483 [GRCh38]
Chr12:21636417 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1205G>A (p.Ser402Asn) single nucleotide variant not specified [RCV004262338] Chr12:21475479 [GRCh38]
Chr12:21628413 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1571C>G (p.Ala524Gly) single nucleotide variant not specified [RCV004243559] Chr12:21471524 [GRCh38]
Chr12:21624458 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.450T>C (p.Val150=) single nucleotide variant not specified [RCV004243561] Chr12:21486530 [GRCh38]
Chr12:21639464 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.583G>C (p.Ala195Pro) single nucleotide variant not specified [RCV004243563] Chr12:21483493 [GRCh38]
Chr12:21636427 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.782T>G (p.Val261Gly) single nucleotide variant not specified [RCV004244902] Chr12:21477888 [GRCh38]
Chr12:21630822 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.838T>G (p.Ser280Ala) single nucleotide variant not specified [RCV004244904] Chr12:21477832 [GRCh38]
Chr12:21630766 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1005G>T (p.Gln335His) single nucleotide variant RECQL-related disorder [RCV004731515]|not specified [RCV004244905] Chr12:21475769 [GRCh38]
Chr12:21628703 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.147T>C (p.Cys49=) single nucleotide variant not specified [RCV004244906] Chr12:21491586 [GRCh38]
Chr12:21644520 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1211G>C (p.Arg404Pro) single nucleotide variant not specified [RCV004244908] Chr12:21475473 [GRCh38]
Chr12:21628407 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.687T>A (p.His229Gln) single nucleotide variant not specified [RCV004244911] Chr12:21483389 [GRCh38]
Chr12:21636323 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.457C>T (p.Gln153Ter) single nucleotide variant not specified [RCV004244912] Chr12:21486523 [GRCh38]
Chr12:21639457 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.368A>G (p.Tyr123Cys) single nucleotide variant not specified [RCV004244914] Chr12:21490225 [GRCh38]
Chr12:21643159 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1466T>C (p.Ile489Thr) single nucleotide variant not specified [RCV004244915] Chr12:21471629 [GRCh38]
Chr12:21624563 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1717G>A (p.Gly573Arg) single nucleotide variant not specified [RCV004244917] Chr12:21471049 [GRCh38]
Chr12:21623983 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1606_1612delinsTG (p.Thr536fs) indel not specified [RCV004244918] Chr12:21471483..21471489 [GRCh38]
Chr12:21624417..21624423 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1660T>A (p.Tyr554Asn) single nucleotide variant not specified [RCV004244919] Chr12:21471435 [GRCh38]
Chr12:21624369 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.402A>G (p.Thr134=) single nucleotide variant not specified [RCV004244921] Chr12:21486578 [GRCh38]
Chr12:21639512 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.629C>A (p.Ala210Glu) single nucleotide variant not specified [RCV004244922] Chr12:21483447 [GRCh38]
Chr12:21636381 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1741A>T (p.Asn581Tyr) single nucleotide variant not specified [RCV004244923] Chr12:21471025 [GRCh38]
Chr12:21623959 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.980C>T (p.Ser327Phe) single nucleotide variant not specified [RCV004244937] Chr12:21475794 [GRCh38]
Chr12:21628728 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1474T>A (p.Tyr492Asn) single nucleotide variant not specified [RCV004244939] Chr12:21471621 [GRCh38]
Chr12:21624555 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.298A>C (p.Ile100Leu) single nucleotide variant not specified [RCV004244941] Chr12:21490295 [GRCh38]
Chr12:21643229 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1819C>T (p.His607Tyr) single nucleotide variant not specified [RCV004246203] Chr12:21470325 [GRCh38]
Chr12:21623259 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1541A>T (p.Lys514Ile) single nucleotide variant not specified [RCV004246206] Chr12:21471554 [GRCh38]
Chr12:21624488 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1603C>A (p.Pro535Thr) single nucleotide variant not specified [RCV004277010] Chr12:21471492 [GRCh38]
Chr12:21624426 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.566T>G (p.Val189Gly) single nucleotide variant not specified [RCV004328274] Chr12:21483510 [GRCh38]
Chr12:21636444 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1307G>A (p.Gly436Glu) single nucleotide variant not provided [RCV003730516]|not specified [RCV004328275] Chr12:21474889 [GRCh38]
Chr12:21627823 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.640A>T (p.Thr214Ser) single nucleotide variant not specified [RCV004328276] Chr12:21483436 [GRCh38]
Chr12:21636370 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1770G>T (p.Val590=) single nucleotide variant not specified [RCV004328277] Chr12:21470996 [GRCh38]
Chr12:21623930 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.518T>C (p.Val173Ala) single nucleotide variant not specified [RCV004328278] Chr12:21483558 [GRCh38]
Chr12:21636492 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1294A>C (p.Met432Leu) single nucleotide variant not specified [RCV004328279] Chr12:21474902 [GRCh38]
Chr12:21627836 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.85dup (p.Thr29fs) duplication not specified [RCV004328281] Chr12:21491647..21491648 [GRCh38]
Chr12:21644581..21644582 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.629C>T (p.Ala210Val) single nucleotide variant not specified [RCV004328282] Chr12:21483447 [GRCh38]
Chr12:21636381 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.235del (p.Val79fs) deletion not specified [RCV004331528] Chr12:21490358 [GRCh38]
Chr12:21643292 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1177A>G (p.Lys393Glu) single nucleotide variant not specified [RCV004331532] Chr12:21475507 [GRCh38]
Chr12:21628441 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1441_1442delinsTT (p.Asp481Phe) indel not specified [RCV004331534] Chr12:21473556..21473557 [GRCh38]
Chr12:21626490..21626491 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1442A>T (p.Asp481Val) single nucleotide variant not specified [RCV004331535] Chr12:21473556 [GRCh38]
Chr12:21626490 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1174A>G (p.Ser392Gly) single nucleotide variant not specified [RCV004331539] Chr12:21475510 [GRCh38]
Chr12:21628444 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1758T>G (p.Ile586Met) single nucleotide variant not specified [RCV004331540] Chr12:21471008 [GRCh38]
Chr12:21623942 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1270T>C (p.Phe424Leu) single nucleotide variant not specified [RCV004331541] Chr12:21474926 [GRCh38]
Chr12:21627860 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.313G>A (p.Ala105Thr) single nucleotide variant not specified [RCV004331543] Chr12:21490280 [GRCh38]
Chr12:21643214 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1570G>A (p.Ala524Thr) single nucleotide variant not specified [RCV004331544] Chr12:21471525 [GRCh38]
Chr12:21624459 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1230G>T (p.Met410Ile) single nucleotide variant not specified [RCV004331545] Chr12:21474966 [GRCh38]
Chr12:21627900 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1082C>A (p.Ser361Ter) single nucleotide variant not provided [RCV003330245] Chr12:21475692 [GRCh38]
Chr12:21628626 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_002907.4(RECQL):c.919C>T (p.Leu307Phe) single nucleotide variant not specified [RCV004341782] Chr12:21476941 [GRCh38]
Chr12:21629875 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.334G>A (p.Val112Ile) single nucleotide variant not specified [RCV004334164] Chr12:21490259 [GRCh38]
Chr12:21643193 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1631A>C (p.Lys544Thr) single nucleotide variant not specified [RCV004334175] Chr12:21471464 [GRCh38]
Chr12:21624398 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.651T>G (p.Ala217=) single nucleotide variant not specified [RCV004334194] Chr12:21483425 [GRCh38]
Chr12:21636359 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.226T>C (p.Ser76Pro) single nucleotide variant not specified [RCV004334195] Chr12:21490367 [GRCh38]
Chr12:21643301 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.99del (p.Glu34fs) deletion not specified [RCV004334190] Chr12:21491634 [GRCh38]
Chr12:21644568 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.77A>G (p.Gln26Arg) single nucleotide variant not specified [RCV004358840] Chr12:21491656 [GRCh38]
Chr12:21644590 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1295T>A (p.Met432Lys) single nucleotide variant not specified [RCV004334172] Chr12:21474901 [GRCh38]
Chr12:21627835 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.257T>C (p.Val86Ala) single nucleotide variant not specified [RCV004334185] Chr12:21490336 [GRCh38]
Chr12:21643270 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1747G>T (p.Ala583Ser) single nucleotide variant not specified [RCV004334193] Chr12:21471019 [GRCh38]
Chr12:21623953 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1310A>T (p.Gln437Leu) single nucleotide variant not specified [RCV004334166] Chr12:21474886 [GRCh38]
Chr12:21627820 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1332A>G (p.Val444=) single nucleotide variant not specified [RCV004334174] Chr12:21474864 [GRCh38]
Chr12:21627798 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.1483G>A (p.Asp495Asn) single nucleotide variant not specified [RCV004334196] Chr12:21471612 [GRCh38]
Chr12:21624546 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1111A>G (p.Thr371Ala) single nucleotide variant not provided [RCV004999926]|not specified [RCV004336685] Chr12:21475573 [GRCh38]
Chr12:21628507 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1287G>A (p.Met429Ile) single nucleotide variant not specified [RCV004334178] Chr12:21474909 [GRCh38]
Chr12:21627843 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1922C>G (p.Ala641Gly) single nucleotide variant not specified [RCV004334170] Chr12:21470222 [GRCh38]
Chr12:21623156 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.591C>T (p.Ser197=) single nucleotide variant not specified [RCV004334171] Chr12:21483485 [GRCh38]
Chr12:21636419 [GRCh37]
Chr12:12p12.1
likely benign
NM_002907.4(RECQL):c.682G>C (p.Gly228Arg) single nucleotide variant not specified [RCV004334181] Chr12:21483394 [GRCh38]
Chr12:21636328 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1616G>T (p.Arg539Leu) single nucleotide variant not specified [RCV004334182] Chr12:21471479 [GRCh38]
Chr12:21624413 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1918G>A (p.Gly640Arg) single nucleotide variant not specified [RCV004334183] Chr12:21470226 [GRCh38]
Chr12:21623160 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.521A>T (p.His174Leu) single nucleotide variant not specified [RCV004334184] Chr12:21483555 [GRCh38]
Chr12:21636489 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.922_923dup (p.Asn309fs) duplication not specified [RCV004334186] Chr12:21476936..21476937 [GRCh38]
Chr12:21629870..21629871 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1111A>T (p.Thr371Ser) single nucleotide variant not specified [RCV004334187] Chr12:21475573 [GRCh38]
Chr12:21628507 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.524C>T (p.Ala175Val) single nucleotide variant not specified [RCV004334188] Chr12:21483552 [GRCh38]
Chr12:21636486 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1490T>C (p.Ile497Thr) single nucleotide variant not specified [RCV004334189] Chr12:21471605 [GRCh38]
Chr12:21624539 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.304del (p.Asn101_Val102insTer) deletion not specified [RCV004334192] Chr12:21490289 [GRCh38]
Chr12:21643223 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.939A>C (p.Lys313Asn) single nucleotide variant not specified [RCV004334197] Chr12:21476921 [GRCh38]
Chr12:21629855 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.1677_1678del (p.Tyr559_Ser560delinsTer) deletion not specified [RCV004341842] Chr12:21471088..21471089 [GRCh38]
Chr12:21624022..21624023 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_002907.4(RECQL):c.479T>C (p.Met160Thr) single nucleotide variant not specified [RCV004341858] Chr12:21486501 [GRCh38]
Chr12:21639435 [GRCh37]
Chr12:12p12.1
uncertain significance