TONSL (tonsoku like, DNA repair protein) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: TONSL (tonsoku like, DNA repair protein) Homo sapiens
Analyze
Symbol: TONSL
Name: tonsoku like, DNA repair protein
RGD ID: 1316704
HGNC Page HGNC:7801
Description: Enables histone binding activity and histone reader activity. Involved in double-strand break repair via homologous recombination; protein localization to chromatin; and replication fork processing. Located in MCM complex and nuclear lumen. Is active in nuclear replication fork and site of double-strand break. Implicated in spondyloepimetaphyseal dysplasia, Sponastrime type.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ40087; I-kappa-B-related protein; ikappaBR; IKBR; inhibitor of kappa B-related protein; NF-kappa-B inhibitor-like protein 2; NFKBIL2; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2; SEMDSP; tonsoku-like protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,428,775 - 144,444,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,428,775 - 144,444,440 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,654,158 - 145,669,823 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,624,984 - 145,640,589 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,624,998 - 145,640,589NCBI
Celera8141,828,598 - 141,844,246 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,767,398 - 140,783,046 (-)NCBIHuRef
CHM1_18145,692,404 - 145,708,053 (-)NCBICHM1_1
T2T-CHM13v2.08145,598,589 - 145,614,253 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the vertebral column  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the nasal bone  (IAGP)
Arrhinencephaly  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Biconcave vertebral bodies  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Broad palm  (IAGP)
Bulbous nose  (IAGP)
Cataract  (IAGP)
Chiari malformation  (IAGP)
Congenital aphakia  (IAGP)
Congenital hypothyroidism  (IAGP)
Coxa vara  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased circulating IgG concentration  (IAGP)
Delayed epiphyseal ossification  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Epicanthus  (IAGP)
Flared metaphysis  (IAGP)
Flat capital femoral epiphysis  (IAGP)
Flattened humeral epiphyses  (IAGP)
Frontal bossing  (IAGP)
Generalized joint hypermobility  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Hip dislocation  (IAGP)
Hip subluxation  (IAGP)
Holoprosencephaly  (IAGP)
Hyperconvex vertebral body endplates  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the dental root  (IAGP)
Hypoplasia of the nasal bone  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, borderline  (IAGP)
Intellectual disability, progressive  (IAGP)
Intrauterine growth retardation  (IAGP)
Ivory epiphyses of the phalanges of the hand  (IAGP)
Joint hypermobility  (IAGP)
Knee pain  (IAGP)
Kyphoscoliosis  (IAGP)
Laryngotracheomalacia  (IAGP)
Limb undergrowth  (IAGP)
Limited elbow extension  (IAGP)
Long face  (IAGP)
Lower limb asymmetry  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lumbar interpedicular narrowing  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Mesomelia  (IAGP)
Metaphyseal irregularity  (IAGP)
Metaphyseal striations  (IAGP)
Metaphyseal widening  (IAGP)
Microcoria  (IAGP)
Microdontia  (IAGP)
Midface retrusion  (IAGP)
Narrow vertebral interpedicular distance  (IAGP)
Neck pain  (IAGP)
Neutropenia  (IAGP)
Nystagmus  (IAGP)
Obtuse angle of mandible  (IAGP)
Osteopathia striata  (IAGP)
Osteopenia  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Posterior subcapsular cataract  (IAGP)
Precocious puberty  (IAGP)
Prominent forehead  (IAGP)
Recurrent pneumonia  (IAGP)
Relative macrocephaly  (IAGP)
Rhizomelia  (IAGP)
Scoliosis  (IAGP)
Shallow acetabular fossae  (IAGP)
Short dental root  (IAGP)
Short femoral neck  (IAGP)
Short foot  (IAGP)
Short long bone  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Shoulder pain  (IAGP)
Small epiphyses  (IAGP)
Small for gestational age  (IAGP)
Spondyloepimetaphyseal dysplasia  (IAGP)
Spondylometaphyseal dysplasia  (IAGP)
Subglottic stenosis  (IAGP)
Thoracic kyphosis  (IAGP)
Weak voice  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7738005   PMID:11246458   PMID:12477932   PMID:14702039   PMID:15146197   PMID:17353931   PMID:18029348   PMID:20211142   PMID:20485444   PMID:21055983   PMID:21055984   PMID:21055985  
PMID:21113133   PMID:21171993   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22407294   PMID:22939629   PMID:24981860   PMID:25184681   PMID:25281560   PMID:25921289   PMID:26186194  
PMID:26527279   PMID:26972000   PMID:27248496   PMID:27338793   PMID:27797818   PMID:28242625   PMID:28514442   PMID:29478807   PMID:29568061   PMID:29656893   PMID:29844126   PMID:30154076  
PMID:30554943   PMID:30575818   PMID:30723051   PMID:30773277   PMID:30773278   PMID:30804502   PMID:31024071   PMID:31091453   PMID:31158361   PMID:31452512   PMID:31617661   PMID:32814769  
PMID:32959051   PMID:33187986   PMID:33729478   PMID:33961781   PMID:34079125   PMID:34373451   PMID:35044719   PMID:35156780   PMID:35256949   PMID:35271311   PMID:35439318   PMID:36215168  
PMID:36622344   PMID:37057595   PMID:37071682   PMID:37298484   PMID:37689310   PMID:37866880   PMID:38580884   PMID:38777146  


Genomics

Comparative Map Data
TONSL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,428,775 - 144,444,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,428,775 - 144,444,440 (-)EnsemblGRCh38hg38GRCh38
GRCh378145,654,158 - 145,669,823 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,624,984 - 145,640,589 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,624,998 - 145,640,589NCBI
Celera8141,828,598 - 141,844,246 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,767,398 - 140,783,046 (-)NCBIHuRef
CHM1_18145,692,404 - 145,708,053 (-)NCBICHM1_1
T2T-CHM13v2.08145,598,589 - 145,614,253 (-)NCBIT2T-CHM13v2.0
Tonsl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,510,437 - 76,524,129 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,510,202 - 76,524,158 (-)EnsemblGRCm39 Ensembl
GRCm381576,626,237 - 76,639,929 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,626,002 - 76,639,958 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,456,667 - 76,470,359 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,453,492 - 76,467,166 (-)NCBIMGSCv36mm8
Celera1578,119,844 - 78,133,536 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.18NCBI
Tonsl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,226,696 - 110,241,459 (-)NCBIGRCr8
mRatBN7.27108,345,704 - 108,360,792 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,346,047 - 108,360,750 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,087,909 - 110,102,598 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,311,483 - 112,326,174 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,272,312 - 112,287,018 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,688,397 - 117,703,139 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,688,397 - 117,703,094 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,676,480 - 117,691,180 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,674,549 - 114,689,284 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,708,853 - 114,723,447 (-)NCBI
Celera7104,696,209 - 104,710,912 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tonsl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,054,400 - 3,068,028 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,054,727 - 3,067,785 (-)NCBIChiLan1.0ChiLan1.0
TONSL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,920,096 - 161,936,289 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,449,461 - 137,465,352 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08141,195,959 - 141,211,849 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18144,185,674 - 144,200,930 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,185,674 - 144,201,040 (-)Ensemblpanpan1.1panPan2
TONSL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,846,010 - 37,857,633 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,846,149 - 37,857,668 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,807,109 - 37,818,700 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,320,076 - 38,331,667 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,320,131 - 38,331,728 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11338,011,918 - 38,023,454 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01338,120,565 - 38,132,086 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,596,909 - 38,608,509 (-)NCBIUU_Cfam_GSD_1.0
Tonsl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303389,660 - 402,914 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364707,817,444 - 7,829,124 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TONSL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4350,060 - 362,167 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14349,992 - 361,749 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24440,592 - 452,352 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TONSL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,641,514 - 138,657,429 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,641,575 - 138,656,673 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,199,538 - 1,214,793 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tonsl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,413,953 - 12,426,193 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TONSL
1026 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013432.5(TONSL):c.249C>T (p.Tyr83=) single nucleotide variant not provided [RCV001394451] Chr8:144443897 [GRCh38]
Chr8:145669280 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3 copy number gain See cases [RCV000052189] Chr8:144392063..144458958 [GRCh38]
Chr8:145617263..145684341 [GRCh37]
Chr8:145588071..145655149 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.838G>A (p.Ala280Thr) single nucleotide variant not provided [RCV001907876] Chr8:144442064 [GRCh38]
Chr8:145667447 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1117C>T (p.Arg373Cys) single nucleotide variant not provided [RCV001944975] Chr8:144440765 [GRCh38]
Chr8:145666148 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3		 benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3		 likely benign
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) indel Sponastrime dysplasia [RCV000790530] Chr8:144435786..144435795 [GRCh38]
Chr8:145661169..145661178 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_013432.5(TONSL):c.2366G>A (p.Arg789Gln) single nucleotide variant Inborn genetic diseases [RCV003290205] Chr8:144436067 [GRCh38]
Chr8:145661450 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1859G>T (p.Arg620Leu) single nucleotide variant Inborn genetic diseases [RCV003295846] Chr8:144436788 [GRCh38]
Chr8:145662171 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.1457G>T (p.Gly486Val) single nucleotide variant Inborn genetic diseases [RCV003270720] Chr8:144440044 [GRCh38]
Chr8:145665427 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145661547)x3 copy number gain not provided [RCV000748023] Chr8:145638753..145661547 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145655903-145742879)x1 copy number loss not provided [RCV000748028] Chr8:145655903..145742879 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145659010-145661294)x1 copy number loss not provided [RCV000748029] Chr8:145659010..145661294 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145659010-145661547)x1 copy number loss not provided [RCV000748030] Chr8:145659010..145661547 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145659010-145661648)x1 copy number loss not provided [RCV000748031] Chr8:145659010..145661648 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145659015-145661547)x1 copy number loss not provided [RCV000748032] Chr8:145659015..145661547 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145659015-145661648)x1 copy number loss not provided [RCV000748033] Chr8:145659015..145661648 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667662-145758635)x3 copy number gain not provided [RCV000748034] Chr8:145667662..145758635 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667662-145758661)x3 copy number gain not provided [RCV000748035] Chr8:145667662..145758661 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667662-145763152)x3 copy number gain not provided [RCV000748036] Chr8:145667662..145763152 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145667664-145755918)x3 copy number gain not provided [RCV000748037] Chr8:145667664..145755918 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1437G>C (p.Glu479Asp) single nucleotide variant not provided [RCV001889179] Chr8:144440064 [GRCh38]
Chr8:145665447 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) single nucleotide variant Sponastrime dysplasia [RCV000790527] Chr8:144432431 [GRCh38]
Chr8:145657814 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) single nucleotide variant Sponastrime dysplasia [RCV000790531]|not provided [RCV001869237] Chr8:144440021 [GRCh38]
Chr8:145665404 [GRCh37]
Chr8:8q24.3		 pathogenic|uncertain significance
NM_013432.5(TONSL):c.3144C>T (p.Ser1048=) single nucleotide variant not provided [RCV000921670] Chr8:144434221 [GRCh38]
Chr8:145659604 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1505C>T (p.Pro502Leu) single nucleotide variant not provided [RCV001888994] Chr8:144438711 [GRCh38]
Chr8:145664094 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3559+287_3735+546del deletion Sponastrime dysplasia [RCV000790534] Chr8:144431739..144433301 [GRCh38]
Chr8:145657122..145658684 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) single nucleotide variant Sponastrime dysplasia [RCV000790525]|TONSL-related disorder [RCV003411741]|not provided [RCV002535818] Chr8:144435526 [GRCh38]
Chr8:145660909 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) single nucleotide variant Sponastrime dysplasia [RCV000790528]|not provided [RCV001873229] Chr8:144440042 [GRCh38]
Chr8:145665425 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln) single nucleotide variant Sponastrime dysplasia [RCV000790535]|Spondylometaphyseal dysplasia [RCV004556067]|not provided [RCV001869239] Chr8:144437080 [GRCh38]
Chr8:145662463 [GRCh37]
Chr8:8q24.3		 pathogenic|uncertain significance
NM_013432.5(TONSL):c.1462G>A (p.Val488Met) single nucleotide variant TONSL-related disorder [RCV003975604]|not provided [RCV000888671] Chr8:144440039 [GRCh38]
Chr8:145665422 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2363G>A (p.Ser788Asn) single nucleotide variant TONSL-related disorder [RCV003968340]|not provided [RCV000907393] Chr8:144436070 [GRCh38]
Chr8:145661453 [GRCh37]
Chr8:8q24.3		 benign
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) deletion Sponastrime dysplasia [RCV000790529] Chr8:144438512..144438522 [GRCh38]
Chr8:145663895..145663905 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) single nucleotide variant Sponastrime dysplasia [RCV000790526]|not provided [RCV001873228] Chr8:144436026 [GRCh38]
Chr8:145661409 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145603133-145695493)x3 copy number gain not provided [RCV000846119] Chr8:145603133..145695493 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261770]|Sponastrime dysplasia [RCV000790533]|TONSL-related disorder [RCV000791266]|not provided [RCV001869238] Chr8:144442396 [GRCh38]
Chr8:145667779 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|uncertain significance
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261768]|TONSL-related disorder [RCV000791263] Chr8:144443257 [GRCh38]
Chr8:145668640 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261771]|TONSL-related disorder [RCV000791264] Chr8:144436810 [GRCh38]
Chr8:145662193 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
NM_013432.5(TONSL):c.866-1G>C single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261767]|Sponastrime dysplasia [RCV000790532]|TONSL-related disorder [RCV000791265] Chr8:144441112 [GRCh38]
Chr8:145666495 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_013432.5(TONSL):c.3226C>T (p.Arg1076Cys) single nucleotide variant not provided [RCV003105165] Chr8:144434139 [GRCh38]
Chr8:145659522 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.301C>T (p.Arg101Cys) single nucleotide variant Inborn genetic diseases [RCV003274876] Chr8:144443285 [GRCh38]
Chr8:145668668 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.645G>A (p.Ala215=) single nucleotide variant not provided [RCV001889090] Chr8:144442346 [GRCh38]
Chr8:145667729 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.3042G>A (p.Pro1014=) single nucleotide variant TONSL-related disorder [RCV003978414]|not provided [RCV000963919] Chr8:144434854 [GRCh38]
Chr8:145660237 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2137C>T (p.Gln713Ter) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261726] Chr8:144436296 [GRCh38]
Chr8:145661679 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.2540G>A (p.Arg847Gln) single nucleotide variant not provided [RCV002001561] Chr8:144435893 [GRCh38]
Chr8:145661276 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.1864dup (p.Ala622fs) duplication Sponastrime dysplasia [RCV001261723]|not provided [RCV001880025] Chr8:144436782..144436783 [GRCh38]
Chr8:145662165..145662166 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_013432.5(TONSL):c.3796dup (p.Arg1266fs) duplication Sponastrime dysplasia [RCV001261725] Chr8:144431090..144431091 [GRCh38]
Chr8:145656473..145656474 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.3096dup (p.Gln1033fs) duplication Sponastrime dysplasia [RCV001261721] Chr8:144434268..144434269 [GRCh38]
Chr8:145659651..145659652 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.460C>T (p.Gln154Ter) single nucleotide variant Sponastrime dysplasia [RCV001261722] Chr8:144442795 [GRCh38]
Chr8:145668178 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met) single nucleotide variant Skeletal dysplaisia with extra-skeletal manifestations [RCV001261769]|not provided [RCV001788438] Chr8:144436614 [GRCh38]
Chr8:145661997 [GRCh37]
Chr8:8q24.3		 likely pathogenic|uncertain significance
NM_013432.5(TONSL):c.3191G>A (p.Arg1064Gln) single nucleotide variant not provided [RCV001348187] Chr8:144434174 [GRCh38]
Chr8:145659557 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.122-5C>G single nucleotide variant Sponastrime dysplasia [RCV001261724] Chr8:144444029 [GRCh38]
Chr8:145669412 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.1457_1458delinsTT (p.Gly486Val) indel not provided [RCV001301375] Chr8:144440043..144440044 [GRCh38]
Chr8:145665426..145665427 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_013432.5(TONSL):c.3071A>G (p.Gln1024Arg) single nucleotide variant not provided [RCV001316554] Chr8:144434825 [GRCh38]
Chr8:145660208 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.712C>T (p.Arg238Trp) single nucleotide variant Inborn genetic diseases [RCV002543792]|TONSL-related disorder [RCV003938629]|not provided [RCV001320115] Chr8:144442279 [GRCh38]
Chr8:145667662 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.3931del (p.Gly1312fs) deletion not provided [RCV001298955] Chr8:144430416 [GRCh38]
Chr8:145655799 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1212C>T (p.Gly404=) single nucleotide variant not provided [RCV001298980] Chr8:144440429 [GRCh38]
Chr8:145665812 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.242A>G (p.Glu81Gly) single nucleotide variant not provided [RCV001338997] Chr8:144443904 [GRCh38]
Chr8:145669287 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3961C>T (p.Pro1321Ser) single nucleotide variant not provided [RCV001340448] Chr8:144429319 [GRCh38]
Chr8:145654702 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.262C>T (p.Gln88Ter) single nucleotide variant Susceptibility to severe COVID-19 [RCV004598575] Chr8:144443884 [GRCh38]
Chr8:145669267 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.1156G>A (p.Val386Met) single nucleotide variant Inborn genetic diseases [RCV002550103]|TONSL-related disorder [RCV003416287]|not provided [RCV001370385] Chr8:144440726 [GRCh38]
Chr8:145666109 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.2774T>G (p.Leu925Trp) single nucleotide variant not provided [RCV001362623] Chr8:144435659 [GRCh38]
Chr8:145661042 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.579-7T>C single nucleotide variant not provided [RCV001433754] Chr8:144442419 [GRCh38]
Chr8:145667802 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2479G>A (p.Glu827Lys) single nucleotide variant not provided [RCV001313307] Chr8:144435954 [GRCh38]
Chr8:145661337 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2401A>T (p.Ser801Cys) single nucleotide variant not provided [RCV001373668] Chr8:144436032 [GRCh38]
Chr8:145661415 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1114G>C (p.Val372Leu) single nucleotide variant not provided [RCV001343770] Chr8:144440768 [GRCh38]
Chr8:145666151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.610G>A (p.Ala204Thr) single nucleotide variant not provided [RCV001317797] Chr8:144442381 [GRCh38]
Chr8:145667764 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1735C>T (p.Arg579Cys) single nucleotide variant not provided [RCV001340842] Chr8:144436912 [GRCh38]
Chr8:145662295 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2458C>T (p.Pro820Ser) single nucleotide variant Inborn genetic diseases [RCV002547557]|not provided [RCV001352419] Chr8:144435975 [GRCh38]
Chr8:145661358 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.449-15G>C single nucleotide variant not provided [RCV001412501] Chr8:144442821 [GRCh38]
Chr8:145668204 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1426G>A (p.Ala476Thr) single nucleotide variant not provided [RCV001310052] Chr8:144440075 [GRCh38]
Chr8:145665458 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1433C>T (p.Ala478Val) single nucleotide variant not provided [RCV001413502] Chr8:144440068 [GRCh38]
Chr8:145665451 [GRCh37]
Chr8:8q24.3		 likely benign
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3086-16C>T single nucleotide variant not provided [RCV001416496] Chr8:144434295 [GRCh38]
Chr8:145659678 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.578+18C>T single nucleotide variant Sponastrime dysplasia [RCV001838662]|not provided [RCV001515522] Chr8:144442659 [GRCh38]
Chr8:145668042 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1164+7C>T single nucleotide variant TONSL-related disorder [RCV003946203]|not provided [RCV001461275] Chr8:144440711 [GRCh38]
Chr8:145666094 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1563+18C>T single nucleotide variant not provided [RCV001522964] Chr8:144438635 [GRCh38]
Chr8:145664018 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3563C>T (p.Ala1188Val) single nucleotide variant TONSL-related disorder [RCV003965857]|not provided [RCV001441730] Chr8:144432457 [GRCh38]
Chr8:145657840 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2853-12C>T single nucleotide variant not provided [RCV001516138] Chr8:144435182 [GRCh38]
Chr8:145660565 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3513C>T (p.Pro1171=) single nucleotide variant not provided [RCV001520910] Chr8:144433634 [GRCh38]
Chr8:145659017 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.3086-4G>T single nucleotide variant not provided [RCV001478138] Chr8:144434283 [GRCh38]
Chr8:145659666 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3195C>T (p.Ala1065=) single nucleotide variant not provided [RCV001522035] Chr8:144434170 [GRCh38]
Chr8:145659553 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2247C>T (p.Ser749=) single nucleotide variant not provided [RCV001501376] Chr8:144436186 [GRCh38]
Chr8:145661569 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3649A>G (p.Thr1217Ala) single nucleotide variant not provided [RCV001424717] Chr8:144432371 [GRCh38]
Chr8:145657754 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1492G>A (p.Asp498Asn) single nucleotide variant Inborn genetic diseases [RCV004038392]|not provided [RCV001441241] Chr8:144438724 [GRCh38]
Chr8:145664107 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.2328C>T (p.Pro776=) single nucleotide variant not provided [RCV001431002] Chr8:144436105 [GRCh38]
Chr8:145661488 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1317C>T (p.Thr439=) single nucleotide variant not provided [RCV001428279] Chr8:144440184 [GRCh38]
Chr8:145665567 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.750+14G>A single nucleotide variant not provided [RCV001401367] Chr8:144442227 [GRCh38]
Chr8:145667610 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2496C>T (p.Ala832=) single nucleotide variant Sponastrime dysplasia [RCV001838666]|not provided [RCV001515875] Chr8:144435937 [GRCh38]
Chr8:145661320 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2141C>T (p.Ala714Val) single nucleotide variant Sponastrime dysplasia [RCV001838667]|not provided [RCV001515876] Chr8:144436292 [GRCh38]
Chr8:145661675 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1477G>A (p.Gly493Ser) single nucleotide variant Sponastrime dysplasia [RCV001838668]|not provided [RCV001515877] Chr8:144440024 [GRCh38]
Chr8:145665407 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1368A>G (p.Leu456=) single nucleotide variant Sponastrime dysplasia [RCV001838669]|not provided [RCV001515878] Chr8:144440133 [GRCh38]
Chr8:145665516 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1263C>T (p.Ala421=) single nucleotide variant Sponastrime dysplasia [RCV001838670]|not provided [RCV001515879] Chr8:144440378 [GRCh38]
Chr8:145665761 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.546C>T (p.Asn182=) single nucleotide variant TONSL-related disorder [RCV003940929]|not provided [RCV001515880] Chr8:144442709 [GRCh38]
Chr8:145668092 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3642C>T (p.Pro1214=) single nucleotide variant TONSL-related disorder [RCV003921159]|not provided [RCV001520326] Chr8:144432378 [GRCh38]
Chr8:145657761 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.865+15G>C single nucleotide variant Sponastrime dysplasia [RCV001838665]|not provided [RCV001515842] Chr8:144442022 [GRCh38]
Chr8:145667405 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1248A>G (p.Lys416=) single nucleotide variant not provided [RCV001511827] Chr8:144440393 [GRCh38]
Chr8:145665776 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1578C>T (p.Asn526=) single nucleotide variant not provided [RCV001512240] Chr8:144438546 [GRCh38]
Chr8:145663929 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1767C>T (p.Asp589=) single nucleotide variant not provided [RCV001522108] Chr8:144436880 [GRCh38]
Chr8:145662263 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.2595G>A (p.Ser865=) single nucleotide variant not provided [RCV001512515] Chr8:144435838 [GRCh38]
Chr8:145661221 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2269C>G (p.Gln757Glu) single nucleotide variant TONSL-related disorder [RCV003931072]|not provided [RCV001513323] Chr8:144436164 [GRCh38]
Chr8:145661547 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3870C>T (p.Ser1290=) single nucleotide variant TONSL-related disorder [RCV003921138]|not provided [RCV001518095] Chr8:144430477 [GRCh38]
Chr8:145655860 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3520T>C (p.Phe1174Leu) single nucleotide variant TONSL-related disorder [RCV003931104]|not provided [RCV001518117] Chr8:144433627 [GRCh38]
Chr8:145659010 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1185C>T (p.Asn395=) single nucleotide variant not provided [RCV001489879] Chr8:144440456 [GRCh38]
Chr8:145665839 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.26-20C>T single nucleotide variant not provided [RCV001456739] Chr8:144444295 [GRCh38]
Chr8:145669678 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2014+14C>T single nucleotide variant not provided [RCV001518846] Chr8:144436544 [GRCh38]
Chr8:145661927 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3006+20G>A single nucleotide variant not provided [RCV001523107] Chr8:144434997 [GRCh38]
Chr8:145660380 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1149C>T (p.Ser383=) single nucleotide variant not provided [RCV001514176] Chr8:144440733 [GRCh38]
Chr8:145666116 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.865+12G>C single nucleotide variant not provided [RCV001478472] Chr8:144442025 [GRCh38]
Chr8:145667408 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3762C>G (p.Thr1254=) single nucleotide variant not provided [RCV001464878] Chr8:144431125 [GRCh38]
Chr8:145656508 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3111C>T (p.Ala1037=) single nucleotide variant TONSL-related disorder [RCV003940888]|not provided [RCV001510444] Chr8:144434254 [GRCh38]
Chr8:145659637 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3514A>G (p.Ser1172Gly) single nucleotide variant not provided [RCV001517008] Chr8:144433633 [GRCh38]
Chr8:145659016 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.2076T>C (p.Ser692=) single nucleotide variant TONSL-related disorder [RCV003946217]|not provided [RCV001468842] Chr8:144436357 [GRCh38]
Chr8:145661740 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.648C>T (p.Gly216=) single nucleotide variant TONSL-related disorder [RCV003908845]|not provided [RCV001517075] Chr8:144442343 [GRCh38]
Chr8:145667726 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.726C>T (p.Ser242=) single nucleotide variant TONSL-related disorder [RCV003900776]|not provided [RCV001523522] Chr8:144442265 [GRCh38]
Chr8:145667648 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2787G>T (p.Pro929=) single nucleotide variant not provided [RCV001497863] Chr8:144435539 [GRCh38]
Chr8:145660922 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2469G>A (p.Ala823=) single nucleotide variant not provided [RCV001461069] Chr8:144435964 [GRCh38]
Chr8:145661347 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3827C>T (p.Pro1276Leu) single nucleotide variant TONSL-related disorder [RCV003931051]|not provided [RCV001511043] Chr8:144430520 [GRCh38]
Chr8:145655903 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.885G>A (p.Leu295=) single nucleotide variant TONSL-related disorder [RCV003921136]|not provided [RCV001517546] Chr8:144441092 [GRCh38]
Chr8:145666475 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.2319G>A (p.Thr773=) single nucleotide variant not provided [RCV001505603] Chr8:144436114 [GRCh38]
Chr8:145661497 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2302C>T (p.Arg768Trp) single nucleotide variant Inborn genetic diseases [RCV004039238]|Sponastrime dysplasia [RCV001535595]|not provided [RCV001873787] Chr8:144436131 [GRCh38]
Chr8:145661514 [GRCh37]
Chr8:8q24.3		 uncertain significance|not provided
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_013432.5(TONSL):c.122-7C>G single nucleotide variant Sponastrime dysplasia [RCV002227887] Chr8:144444031 [GRCh38]
Chr8:145669414 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2723C>T (p.Thr908Ile) single nucleotide variant not provided [RCV003107041] Chr8:144435710 [GRCh38]
Chr8:145661093 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1531C>T (p.Gln511Ter) single nucleotide variant Sponastrime dysplasia [RCV001783891]|not provided [RCV002544275] Chr8:144438685 [GRCh38]
Chr8:145664068 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_013432.5(TONSL):c.994G>C (p.Glu332Gln) single nucleotide variant Sponastrime dysplasia [RCV002238726] Chr8:144440983 [GRCh38]
Chr8:145666366 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3967_3968dup (p.Leu1324fs) duplication Sponastrime dysplasia [RCV002238728] Chr8:144429311..144429312 [GRCh38]
Chr8:145654694..145654695 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.2776-2A>G single nucleotide variant Sponastrime dysplasia [RCV002240145] Chr8:144435552 [GRCh38]
Chr8:145660935 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.2341del (p.Glu781fs) deletion Sponastrime dysplasia [RCV001783890] Chr8:144436092 [GRCh38]
Chr8:145661475 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.1768G>A (p.Asp590Asn) single nucleotide variant not provided [RCV002001479] Chr8:144436879 [GRCh38]
Chr8:145662262 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1471_1472del (p.Ser491fs) microsatellite Sponastrime dysplasia [RCV001806402] Chr8:144440029..144440030 [GRCh38]
Chr8:145665412..145665413 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1986GCT[1] (p.Leu664del) microsatellite Sponastrime dysplasia [RCV001806403] Chr8:144436581..144436583 [GRCh38]
Chr8:145661964..145661966 [GRCh37]
Chr8:8q24.3		 uncertain significance
Single allele duplication Recombinant 8 syndrome [RCV004801486] Chr8:141711312..145138635 [GRCh38]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.521G>A (p.Ser174Asn) single nucleotide variant Sponastrime dysplasia [RCV001806401] Chr8:144442734 [GRCh38]
Chr8:145668117 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1706C>T (p.Ala569Val) single nucleotide variant Sponastrime dysplasia [RCV001802469] Chr8:144437047 [GRCh38]
Chr8:145662430 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2735C>T (p.Ser912Leu) single nucleotide variant not provided [RCV001912206] Chr8:144435698 [GRCh38]
Chr8:145661081 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2980C>T (p.Pro994Ser) single nucleotide variant Inborn genetic diseases [RCV002557863]|not provided [RCV001914377] Chr8:144435043 [GRCh38]
Chr8:145660426 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3155T>C (p.Leu1052Pro) single nucleotide variant not provided [RCV002045116] Chr8:144434210 [GRCh38]
Chr8:145659593 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.25+3A>G single nucleotide variant not provided [RCV002045816] Chr8:144444387 [GRCh38]
Chr8:145669770 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1290+35G>A single nucleotide variant Sponastrime dysplasia [RCV001838915]|not provided [RCV004713117] Chr8:144440316 [GRCh38]
Chr8:144440316..144440317 [GRCh38]
Chr8:145665699 [GRCh37]
Chr8:145665699..145665700 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3346C>T (p.Arg1116Cys) single nucleotide variant Inborn genetic diseases [RCV004041768]|not provided [RCV001896786] Chr8:144434019 [GRCh38]
Chr8:145659402 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2617C>T (p.Arg873Cys) single nucleotide variant Inborn genetic diseases [RCV004044287]|not provided [RCV001926965] Chr8:144435816 [GRCh38]
Chr8:145661199 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2126C>T (p.Pro709Leu) single nucleotide variant not provided [RCV002009260] Chr8:144436307 [GRCh38]
Chr8:145661690 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.47A>G (p.Lys16Arg) single nucleotide variant not provided [RCV002004199] Chr8:144444254 [GRCh38]
Chr8:145669637 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1550G>A (p.Arg517Gln) single nucleotide variant not provided [RCV001950592] Chr8:144438666 [GRCh38]
Chr8:145664049 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2248G>A (p.Ala750Thr) single nucleotide variant not provided [RCV001948799] Chr8:144436185 [GRCh38]
Chr8:145661568 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1145G>A (p.Arg382His) single nucleotide variant TONSL-related disorder [RCV003401837]|not provided [RCV001889462] Chr8:144440737 [GRCh38]
Chr8:145666120 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1198C>T (p.Arg400Cys) single nucleotide variant Inborn genetic diseases [RCV004045239]|not provided [RCV002008793] Chr8:144440443 [GRCh38]
Chr8:145665826 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.619A>G (p.Asn207Asp) single nucleotide variant not provided [RCV002043308] Chr8:144442372 [GRCh38]
Chr8:145667755 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV001988066] Chr8:144444242 [GRCh38]
Chr8:145669625 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3598G>A (p.Ala1200Thr) single nucleotide variant not provided [RCV002023711] Chr8:144432422 [GRCh38]
Chr8:145657805 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3560-14T>A single nucleotide variant not provided [RCV002008124] Chr8:144432474 [GRCh38]
Chr8:145657857 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3835A>G (p.Ile1279Val) single nucleotide variant not provided [RCV001950163] Chr8:144430512 [GRCh38]
Chr8:145655895 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3133C>A (p.Leu1045Ile) single nucleotide variant not provided [RCV002044625] Chr8:144434232 [GRCh38]
Chr8:145659615 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3007G>C (p.Val1003Leu) single nucleotide variant not provided [RCV001948686] Chr8:144434889 [GRCh38]
Chr8:145660272 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3560-20G>A single nucleotide variant not provided [RCV001864255] Chr8:144432480 [GRCh38]
Chr8:145657863 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.2522C>T (p.Pro841Leu) single nucleotide variant not provided [RCV002003912] Chr8:144435911 [GRCh38]
Chr8:145661294 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4127G>A (p.Arg1376Gln) single nucleotide variant not provided [RCV001969064] Chr8:144429153 [GRCh38]
Chr8:145654536 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3059G>A (p.Arg1020His) single nucleotide variant not provided [RCV001911716] Chr8:144434837 [GRCh38]
Chr8:145660220 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2351C>G (p.Thr784Arg) single nucleotide variant not provided [RCV001945346] Chr8:144436082 [GRCh38]
Chr8:145661465 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2759C>T (p.Ala920Val) single nucleotide variant not provided [RCV001891563] Chr8:144435674 [GRCh38]
Chr8:145661057 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2461C>A (p.Gln821Lys) single nucleotide variant not provided [RCV002042850] Chr8:144435972 [GRCh38]
Chr8:145661355 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2852+24C>T single nucleotide variant Sponastrime dysplasia [RCV001838910]|not provided [RCV004713114] Chr8:144435450 [GRCh38]
Chr8:145660833 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1118G>A (p.Arg373His) single nucleotide variant Inborn genetic diseases [RCV004042885]|not provided [RCV001984719] Chr8:144440764 [GRCh38]
Chr8:145666147 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.15C>T (p.Arg5=) single nucleotide variant not provided [RCV001891698] Chr8:144444400 [GRCh38]
Chr8:145669783 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.3131G>A (p.Gly1044Asp) single nucleotide variant not provided [RCV001870837] Chr8:144434234 [GRCh38]
Chr8:145659617 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1672C>T (p.Arg558Trp) single nucleotide variant Inborn genetic diseases [RCV004039911]|not provided [RCV001911844] Chr8:144437081 [GRCh38]
Chr8:145662464 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3007G>A (p.Val1003Met) single nucleotide variant not provided [RCV001983926] Chr8:144434889 [GRCh38]
Chr8:145660272 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1653+40T>C single nucleotide variant Sponastrime dysplasia [RCV001838911]|not provided [RCV004713115] Chr8:144438431 [GRCh38]
Chr8:145663814 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1291-44T>C single nucleotide variant Sponastrime dysplasia [RCV001838914]|not provided [RCV004713116] Chr8:144440254 [GRCh38]
Chr8:145665637 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.448+40G>A single nucleotide variant Sponastrime dysplasia [RCV001838916]|not provided [RCV004713118] Chr8:144443098 [GRCh38]
Chr8:145668481 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2291C>A (p.Ala764Asp) single nucleotide variant Inborn genetic diseases [RCV002555307]|not provided [RCV001908696] Chr8:144436142 [GRCh38]
Chr8:145661525 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.25+2dup duplication not provided [RCV001926723] Chr8:144444387..144444388 [GRCh38]
Chr8:145669770..145669771 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.686G>A (p.Arg229Gln) single nucleotide variant Inborn genetic diseases [RCV002563571]|not provided [RCV002004696] Chr8:144442305 [GRCh38]
Chr8:145667688 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_013432.5(TONSL):c.754C>T (p.Leu252Phe) single nucleotide variant not provided [RCV001965664] Chr8:144442148 [GRCh38]
Chr8:145667531 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2191C>T (p.Arg731Trp) single nucleotide variant not provided [RCV001893843] Chr8:144436242 [GRCh38]
Chr8:145661625 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3041C>T (p.Pro1014Leu) single nucleotide variant not provided [RCV001967508] Chr8:144434855 [GRCh38]
Chr8:145660238 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2014+5G>A single nucleotide variant not provided [RCV002008174] Chr8:144436553 [GRCh38]
Chr8:145661936 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2435G>A (p.Arg812Gln) single nucleotide variant not provided [RCV001947779] Chr8:144435998 [GRCh38]
Chr8:145661381 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.557G>A (p.Arg186Lys) single nucleotide variant not provided [RCV001914345] Chr8:144442698 [GRCh38]
Chr8:145668081 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.641G>A (p.Arg214His) single nucleotide variant not provided [RCV001987013] Chr8:144442350 [GRCh38]
Chr8:145667733 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2329G>A (p.Ala777Thr) single nucleotide variant not provided [RCV001985267] Chr8:144436104 [GRCh38]
Chr8:145661487 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1791A>C (p.Glu597Asp) single nucleotide variant not provided [RCV002020722] Chr8:144436856 [GRCh38]
Chr8:145662239 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3181C>G (p.Pro1061Ala) single nucleotide variant not provided [RCV002020717] Chr8:144434184 [GRCh38]
Chr8:145659567 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3157G>T (p.Ala1053Ser) single nucleotide variant Inborn genetic diseases [RCV004041634]|not provided [RCV001891786] Chr8:144434208 [GRCh38]
Chr8:145659591 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3610_3611delinsTA (p.Pro1204Tyr) indel not provided [RCV001966861] Chr8:144432409..144432410 [GRCh38]
Chr8:145657792..145657793 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1040C>T (p.Pro347Leu) single nucleotide variant not provided [RCV001872283] Chr8:144440842 [GRCh38]
Chr8:145666225 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1433C>A (p.Ala478Glu) single nucleotide variant Inborn genetic diseases [RCV002545334]|not provided [RCV002044099] Chr8:144440068 [GRCh38]
Chr8:145665451 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1106A>G (p.His369Arg) single nucleotide variant not provided [RCV001892651] Chr8:144440776 [GRCh38]
Chr8:145666159 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.264G>C (p.Gln88His) single nucleotide variant not provided [RCV002004622] Chr8:144443882 [GRCh38]
Chr8:145669265 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3851C>G (p.Ser1284Cys) single nucleotide variant not provided [RCV002044122] Chr8:144430496 [GRCh38]
Chr8:145655879 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2707C>T (p.Pro903Ser) single nucleotide variant not provided [RCV002002927] Chr8:144435726 [GRCh38]
Chr8:145661109 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1290G>C (p.Gln430His) single nucleotide variant Sponastrime dysplasia [RCV001823680] Chr8:144440351 [GRCh38]
Chr8:145665734 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2077CCT[1] (p.Pro694del) microsatellite not provided [RCV001894013] Chr8:144436351..144436353 [GRCh38]
Chr8:145661734..145661736 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145658472)_(145660261_?)del deletion not provided [RCV002043490] Chr8:145658472..145660261 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.787C>T (p.Arg263Ter) single nucleotide variant Sponastrime dysplasia [RCV001843995]|not provided [RCV002034721] Chr8:144442115 [GRCh38]
Chr8:145667498 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_145663834)_(145663963_?)del deletion not provided [RCV001946069] Chr8:145663834..145663963 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1628G>A (p.Arg543His) single nucleotide variant not provided [RCV001926757] Chr8:144438496 [GRCh38]
Chr8:145663879 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2618G>A (p.Arg873His) single nucleotide variant not provided [RCV001969732] Chr8:144435815 [GRCh38]
Chr8:145661198 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3559+15C>T single nucleotide variant not provided [RCV001969410] Chr8:144433573 [GRCh38]
Chr8:145658956 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_013432.5(TONSL):c.335C>T (p.Thr112Ile) single nucleotide variant not provided [RCV001909691] Chr8:144443251 [GRCh38]
Chr8:145668634 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3358A>T (p.Met1120Leu) single nucleotide variant not provided [RCV001966152] Chr8:144434007 [GRCh38]
Chr8:145659390 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2199C>G (p.Ser733Arg) single nucleotide variant not provided [RCV001894683] Chr8:144436234 [GRCh38]
Chr8:145661617 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3950C>T (p.Ala1317Val) single nucleotide variant not provided [RCV002021266] Chr8:144429330 [GRCh38]
Chr8:145654713 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1042G>A (p.Gly348Ser) single nucleotide variant not provided [RCV001948287] Chr8:144440840 [GRCh38]
Chr8:145666223 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.155A>T (p.Gln52Leu) single nucleotide variant not provided [RCV001890149] Chr8:144443991 [GRCh38]
Chr8:145669374 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1961G>A (p.Arg654Gln) single nucleotide variant not provided [RCV001984595] Chr8:144436611 [GRCh38]
Chr8:145661994 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2594C>T (p.Ser865Leu) single nucleotide variant Inborn genetic diseases [RCV003164036]|not provided [RCV002039613] Chr8:144435839 [GRCh38]
Chr8:145661222 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1406AGGAGGCGG[1] (p.469EEA[1]) microsatellite not provided [RCV002022309] Chr8:144440078..144440086 [GRCh38]
Chr8:145665461..145665469 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4047G>T (p.Arg1349Ser) single nucleotide variant Sponastrime dysplasia [RCV003136311]|not provided [RCV001943908] Chr8:144429233 [GRCh38]
Chr8:145654616 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2438G>A (p.Gly813Asp) single nucleotide variant not provided [RCV002037038] Chr8:144435995 [GRCh38]
Chr8:145661378 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1370G>C (p.Arg457Pro) single nucleotide variant not provided [RCV001886682] Chr8:144440131 [GRCh38]
Chr8:145665514 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2775+4G>C single nucleotide variant not provided [RCV001888512] Chr8:144435654 [GRCh38]
Chr8:145661037 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.579G>A (p.Glu193=) single nucleotide variant not provided [RCV001922150] Chr8:144442412 [GRCh38]
Chr8:145667795 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1235C>T (p.Pro412Leu) single nucleotide variant not provided [RCV002036072] Chr8:144440406 [GRCh38]
Chr8:145665789 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2105C>G (p.Pro702Arg) single nucleotide variant not provided [RCV001888539] Chr8:144436328 [GRCh38]
Chr8:145661711 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.979T>A (p.Phe327Ile) single nucleotide variant not provided [RCV001993896] Chr8:144440998 [GRCh38]
Chr8:145666381 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1389AGATGA[1] (p.464DE[1]) microsatellite not provided [RCV002037114] Chr8:144440101..144440106 [GRCh38]
Chr8:145665484..145665489 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2288C>T (p.Ser763Leu) single nucleotide variant not provided [RCV001961958] Chr8:144436145 [GRCh38]
Chr8:145661528 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.815G>A (p.Gly272Asp) single nucleotide variant not provided [RCV002009494] Chr8:144442087 [GRCh38]
Chr8:145667470 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1368_1369inv (p.Arg457Trp) inversion not provided [RCV001999261] Chr8:144440132..144440133 [GRCh38]
Chr8:145665515..145665516 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2404G>A (p.Ala802Thr) single nucleotide variant not provided [RCV002000538] Chr8:144436029 [GRCh38]
Chr8:145661412 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2775+5G>T single nucleotide variant not provided [RCV001918354] Chr8:144435653 [GRCh38]
Chr8:145661036 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2215AGC[6] (p.Ser744dup) microsatellite not provided [RCV001926270] Chr8:144436203..144436204 [GRCh38]
Chr8:145661586..145661587 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2690G>A (p.Ser897Asn) single nucleotide variant not provided [RCV001962106] Chr8:144435743 [GRCh38]
Chr8:145661126 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3061A>G (p.Arg1021Gly) single nucleotide variant not provided [RCV002035155] Chr8:144434835 [GRCh38]
Chr8:145660218 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.31A>G (p.Ser11Gly) single nucleotide variant not provided [RCV002001387] Chr8:144444270 [GRCh38]
Chr8:145669653 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.880C>T (p.Arg294Trp) single nucleotide variant not provided [RCV001888756] Chr8:144441097 [GRCh38]
Chr8:145666480 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2128G>A (p.Glu710Lys) single nucleotide variant not provided [RCV002011123] Chr8:144436305 [GRCh38]
Chr8:145661688 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1547G>A (p.Arg516Gln) single nucleotide variant not provided [RCV002028913] Chr8:144438669 [GRCh38]
Chr8:145664052 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2467G>A (p.Ala823Thr) single nucleotide variant not provided [RCV002018606] Chr8:144435966 [GRCh38]
Chr8:145661349 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1799C>T (p.Thr600Ile) single nucleotide variant not provided [RCV001887483] Chr8:144436848 [GRCh38]
Chr8:145662231 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1889A>C (p.Lys630Thr) single nucleotide variant not provided [RCV002038713] Chr8:144436758 [GRCh38]
Chr8:145662141 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.809G>A (p.Arg270Lys) single nucleotide variant not provided [RCV002046287] Chr8:144442093 [GRCh38]
Chr8:145667476 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2761G>C (p.Ala921Pro) single nucleotide variant not provided [RCV001943509] Chr8:144435672 [GRCh38]
Chr8:145661055 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2891C>T (p.Ala964Val) single nucleotide variant Sponastrime dysplasia [RCV002236190]|not provided [RCV001955269] Chr8:144435132 [GRCh38]
Chr8:145660515 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.750+13C>A single nucleotide variant not provided [RCV002036899] Chr8:144442228 [GRCh38]
Chr8:145667611 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2253C>T (p.Gly751=) single nucleotide variant not provided [RCV001943589] Chr8:144436180 [GRCh38]
Chr8:145661563 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.86T>A (p.Leu29Gln) single nucleotide variant not provided [RCV002037468] Chr8:144444215 [GRCh38]
Chr8:145669598 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1523A>T (p.Glu508Val) single nucleotide variant not provided [RCV001981269] Chr8:144438693 [GRCh38]
Chr8:145664076 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2552G>A (p.Arg851Gln) single nucleotide variant not provided [RCV002030561] Chr8:144435881 [GRCh38]
Chr8:145661264 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.442C>A (p.Leu148Met) single nucleotide variant Inborn genetic diseases [RCV002548993]|not provided [RCV002033950] Chr8:144443144 [GRCh38]
Chr8:145668527 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3004G>A (p.Glu1002Lys) single nucleotide variant not provided [RCV001887285] Chr8:144435019 [GRCh38]
Chr8:145660402 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1340A>G (p.Gln447Arg) single nucleotide variant not provided [RCV002046648] Chr8:144440161 [GRCh38]
Chr8:145665544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1516G>A (p.Glu506Lys) single nucleotide variant not provided [RCV001917670] Chr8:144438700 [GRCh38]
Chr8:145664083 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1199G>A (p.Arg400His) single nucleotide variant Inborn genetic diseases [RCV002562827]|not provided [RCV001952997] Chr8:144440442 [GRCh38]
Chr8:145665825 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2884G>A (p.Glu962Lys) single nucleotide variant not provided [RCV002029426] Chr8:144435139 [GRCh38]
Chr8:145660522 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2196G>T (p.Arg732Ser) single nucleotide variant not provided [RCV001931117] Chr8:144436237 [GRCh38]
Chr8:145661620 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3347G>A (p.Arg1116His) single nucleotide variant Inborn genetic diseases [RCV003355682]|not provided [RCV001936999] Chr8:144434018 [GRCh38]
Chr8:145659401 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2278C>T (p.Pro760Ser) single nucleotide variant Inborn genetic diseases [RCV004038833]|not provided [RCV002046839] Chr8:144436155 [GRCh38]
Chr8:145661538 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3735+4C>T single nucleotide variant not provided [RCV001991066] Chr8:144432281 [GRCh38]
Chr8:145657664 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4028G>A (p.Arg1343His) single nucleotide variant not provided [RCV001989872] Chr8:144429252 [GRCh38]
Chr8:145654635 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2239G>A (p.Glu747Lys) single nucleotide variant not provided [RCV001917953] Chr8:144436194 [GRCh38]
Chr8:145661577 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2669C>T (p.Pro890Leu) single nucleotide variant not provided [RCV001900468] Chr8:144435764 [GRCh38]
Chr8:145661147 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1564-2A>G single nucleotide variant not provided [RCV001972956] Chr8:144438562 [GRCh38]
Chr8:145663945 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.1789G>A (p.Glu597Lys) single nucleotide variant not provided [RCV001899313] Chr8:144436858 [GRCh38]
Chr8:145662241 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1290+4C>G single nucleotide variant not provided [RCV001937097] Chr8:144440347 [GRCh38]
Chr8:145665730 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.61G>A (p.Gly21Arg) single nucleotide variant not provided [RCV001877754] Chr8:144444240 [GRCh38]
Chr8:145669623 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2780C>T (p.Pro927Leu) single nucleotide variant Inborn genetic diseases [RCV004044861]|not provided [RCV002049665] Chr8:144435546 [GRCh38]
Chr8:145660929 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.2853-8C>G single nucleotide variant not provided [RCV001994099] Chr8:144435178 [GRCh38]
Chr8:145660561 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1222G>A (p.Glu408Lys) single nucleotide variant not provided [RCV002051140] Chr8:144440419 [GRCh38]
Chr8:145665802 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.640C>T (p.Arg214Cys) single nucleotide variant not provided [RCV001974708] Chr8:144442351 [GRCh38]
Chr8:145667734 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2006C>T (p.Ser669Leu) single nucleotide variant not provided [RCV002030234] Chr8:144436566 [GRCh38]
Chr8:145661949 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2500del (p.Asp834fs) deletion not provided [RCV001956136] Chr8:144435933 [GRCh38]
Chr8:145661316 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.800A>C (p.Lys267Thr) single nucleotide variant not provided [RCV001875378] Chr8:144442102 [GRCh38]
Chr8:145667485 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2806C>T (p.Arg936Ter) single nucleotide variant not provided [RCV001951086] Chr8:144435520 [GRCh38]
Chr8:145660903 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.2365C>T (p.Arg789Trp) single nucleotide variant not provided [RCV001920959] Chr8:144436068 [GRCh38]
Chr8:145661451 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1615G>A (p.Glu539Lys) single nucleotide variant not provided [RCV001995922] Chr8:144438509 [GRCh38]
Chr8:145663892 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2413C>T (p.Arg805Trp) single nucleotide variant Inborn genetic diseases [RCV003303489]|not provided [RCV002014817] Chr8:144436020 [GRCh38]
Chr8:145661403 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1015C>T (p.Arg339Cys) single nucleotide variant not provided [RCV001936790] Chr8:144440867 [GRCh38]
Chr8:145666250 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2281C>T (p.Arg761Trp) single nucleotide variant not provided [RCV001922851] Chr8:144436152 [GRCh38]
Chr8:145661535 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1816C>T (p.Leu606Phe) single nucleotide variant not provided [RCV002046438] Chr8:144436831 [GRCh38]
Chr8:145662214 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3584C>G (p.Ser1195Cys) single nucleotide variant not provided [RCV001958089] Chr8:144432436 [GRCh38]
Chr8:145657819 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1186A>C (p.Ile396Leu) single nucleotide variant not provided [RCV001953930] Chr8:144440455 [GRCh38]
Chr8:145665838 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1406AGGAGGCGG[3] (p.469EEA[3]) microsatellite not provided [RCV001919076] Chr8:144440077..144440078 [GRCh38]
Chr8:145665460..145665461 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1661C>T (p.Pro554Leu) single nucleotide variant not provided [RCV002015195] Chr8:144437092 [GRCh38]
Chr8:145662475 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1744C>A (p.Leu582Met) single nucleotide variant not provided [RCV001978514] Chr8:144436903 [GRCh38]
Chr8:145662286 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.775_776del (p.Leu259fs) deletion not provided [RCV001972716] Chr8:144442126..144442127 [GRCh38]
Chr8:145667509..145667510 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.1136T>G (p.Leu379Arg) single nucleotide variant not provided [RCV001897903] Chr8:144440746 [GRCh38]
Chr8:145666129 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4050C>A (p.Asp1350Glu) single nucleotide variant not provided [RCV001935059] Chr8:144429230 [GRCh38]
Chr8:145654613 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1637A>G (p.Gln546Arg) single nucleotide variant not provided [RCV001902755] Chr8:144438487 [GRCh38]
Chr8:145663870 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.67C>T (p.Arg23Trp) single nucleotide variant not provided [RCV001940240] Chr8:144444234 [GRCh38]
Chr8:145669617 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1250C>T (p.Ala417Val) single nucleotide variant not provided [RCV002046869] Chr8:144440391 [GRCh38]
Chr8:145665774 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3560-8C>T single nucleotide variant not provided [RCV002030794] Chr8:144432468 [GRCh38]
Chr8:145657851 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1870G>A (p.Val624Ile) single nucleotide variant not provided [RCV002046843] Chr8:144436777 [GRCh38]
Chr8:145662160 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3515G>T (p.Ser1172Ile) single nucleotide variant Inborn genetic diseases [RCV002557766]|not provided [RCV001951827] Chr8:144433632 [GRCh38]
Chr8:145659015 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3518T>G (p.Phe1173Cys) single nucleotide variant not provided [RCV001924511] Chr8:144433629 [GRCh38]
Chr8:145659012 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2257G>A (p.Ala753Thr) single nucleotide variant not provided [RCV002018843] Chr8:144436176 [GRCh38]
Chr8:145661559 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2398G>A (p.Gly800Ser) single nucleotide variant not provided [RCV001906402] Chr8:144436035 [GRCh38]
Chr8:145661418 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2215A>T (p.Ser739Cys) single nucleotide variant Inborn genetic diseases [RCV002552766]|not provided [RCV001885751] Chr8:144436218 [GRCh38]
Chr8:145661601 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.788G>A (p.Arg263Gln) single nucleotide variant not provided [RCV001939736] Chr8:144442114 [GRCh38]
Chr8:145667497 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2569C>T (p.Arg857Cys) single nucleotide variant not provided [RCV001906433] Chr8:144435864 [GRCh38]
Chr8:145661247 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3397G>A (p.Glu1133Lys) single nucleotide variant not provided [RCV001957849] Chr8:144433750 [GRCh38]
Chr8:145659133 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1016G>A (p.Arg339His) single nucleotide variant not provided [RCV001939203] Chr8:144440866 [GRCh38]
Chr8:145666249 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.5G>A (p.Ser2Asn) single nucleotide variant not provided [RCV002012013] Chr8:144444410 [GRCh38]
Chr8:145669793 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3275C>T (p.Ala1092Val) single nucleotide variant not provided [RCV002019037] Chr8:144434090 [GRCh38]
Chr8:145659473 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4081G>T (p.Gly1361Cys) single nucleotide variant not provided [RCV001885916] Chr8:144429199 [GRCh38]
Chr8:145654582 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2546G>A (p.Arg849His) single nucleotide variant not provided [RCV001974462] Chr8:144435887 [GRCh38]
Chr8:145661270 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1822T>G (p.Cys608Gly) single nucleotide variant not provided [RCV001924087] Chr8:144436825 [GRCh38]
Chr8:145662208 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2649C>T (p.Cys883=) single nucleotide variant not provided [RCV001899692] Chr8:144435784 [GRCh38]
Chr8:145661167 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.3323A>G (p.Asn1108Ser) single nucleotide variant not provided [RCV001994220] Chr8:144434042 [GRCh38]
Chr8:145659425 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1400AGG[7] (p.Glu468_Glu470dup) microsatellite not provided [RCV001972012] Chr8:144440089..144440090 [GRCh38]
Chr8:145665472..145665473 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2545C>T (p.Arg849Cys) single nucleotide variant not provided [RCV001973369] Chr8:144435888 [GRCh38]
Chr8:145661271 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2408A>G (p.Gln803Arg) single nucleotide variant not provided [RCV001879432] Chr8:144436025 [GRCh38]
Chr8:145661408 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3245T>G (p.Leu1082Arg) single nucleotide variant not provided [RCV001974578] Chr8:144434120 [GRCh38]
Chr8:145659503 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4082G>A (p.Gly1361Asp) single nucleotide variant not provided [RCV001980890] Chr8:144429198 [GRCh38]
Chr8:145654581 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1879C>T (p.Arg627Cys) single nucleotide variant Inborn genetic diseases [RCV004044088]|not provided [RCV001923626] Chr8:144436768 [GRCh38]
Chr8:145662151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3858C>G (p.Asn1286Lys) single nucleotide variant not provided [RCV001979758] Chr8:144430489 [GRCh38]
Chr8:145655872 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1483GAC[1] (p.Asp496del) microsatellite not provided [RCV001926046] Chr8:144438728..144438730 [GRCh38]
Chr8:145664111..145664113 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3487C>T (p.Arg1163Cys) single nucleotide variant not provided [RCV001865083] Chr8:144433660 [GRCh38]
Chr8:145659043 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2390G>A (p.Arg797Gln) single nucleotide variant Inborn genetic diseases [RCV002562741]|not provided [RCV001955231] Chr8:144436043 [GRCh38]
Chr8:145661426 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.707G>A (p.Arg236Lys) single nucleotide variant not provided [RCV002050328] Chr8:144442284 [GRCh38]
Chr8:145667667 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2068G>A (p.Glu690Lys) single nucleotide variant Inborn genetic diseases [RCV004681321]|not provided [RCV001935754] Chr8:144436365 [GRCh38]
Chr8:145661748 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1727A>C (p.Glu576Ala) single nucleotide variant not provided [RCV001997433] Chr8:144436920 [GRCh38]
Chr8:145662303 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter) single nucleotide variant Sponastrime dysplasia [RCV004699565]|TONSL-related disorder [RCV003416628]|not provided [RCV001938891] Chr8:144435810 [GRCh38]
Chr8:145661193 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_013432.5(TONSL):c.1736G>A (p.Arg579His) single nucleotide variant not provided [RCV001940665] Chr8:144436911 [GRCh38]
Chr8:145662294 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3676G>C (p.Val1226Leu) single nucleotide variant not provided [RCV001918742] Chr8:144432344 [GRCh38]
Chr8:145657727 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3685G>A (p.Gly1229Ser) single nucleotide variant not provided [RCV001934661] Chr8:144432335 [GRCh38]
Chr8:145657718 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3080G>A (p.Gly1027Glu) single nucleotide variant not provided [RCV002015034] Chr8:144434816 [GRCh38]
Chr8:145660199 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.692G>A (p.Cys231Tyr) single nucleotide variant not provided [RCV002019263] Chr8:144442299 [GRCh38]
Chr8:145667682 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.742A>G (p.Ile248Val) single nucleotide variant not provided [RCV001961330] Chr8:144442249 [GRCh38]
Chr8:145667632 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3242G>T (p.Arg1081Leu) single nucleotide variant not provided [RCV002046433] Chr8:144434123 [GRCh38]
Chr8:145659506 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2456C>A (p.Ala819Asp) single nucleotide variant Inborn genetic diseases [RCV002642141]|not provided [RCV002017535] Chr8:144435977 [GRCh38]
Chr8:145661360 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2530C>A (p.Arg844Ser) single nucleotide variant not provided [RCV001938329] Chr8:144435903 [GRCh38]
Chr8:145661286 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.933G>A (p.Met311Ile) single nucleotide variant Inborn genetic diseases [RCV002561445]|not provided [RCV001982228] Chr8:144441044 [GRCh38]
Chr8:145666427 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1571G>A (p.Arg524Gln) single nucleotide variant Inborn genetic diseases [RCV002608054]|See cases [RCV004584458]|not provided [RCV002010139] Chr8:144438553 [GRCh38]
Chr8:145663936 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2303G>A (p.Arg768Gln) single nucleotide variant not provided [RCV001976492] Chr8:144436130 [GRCh38]
Chr8:145661513 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1645G>A (p.Val549Met) single nucleotide variant not provided [RCV001973661] Chr8:144438479 [GRCh38]
Chr8:145663862 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.643G>A (p.Ala215Thr) single nucleotide variant not provided [RCV001901467] Chr8:144442348 [GRCh38]
Chr8:145667731 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2570G>A (p.Arg857His) single nucleotide variant not provided [RCV001883709] Chr8:144435863 [GRCh38]
Chr8:145661246 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1759G>A (p.Ala587Thr) single nucleotide variant not provided [RCV001938440] Chr8:144436888 [GRCh38]
Chr8:145662271 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3250G>A (p.Asp1084Asn) single nucleotide variant not provided [RCV001980068] Chr8:144434115 [GRCh38]
Chr8:145659498 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.42A>C (p.Lys14Asn) single nucleotide variant not provided [RCV002036540] Chr8:144444259 [GRCh38]
Chr8:145669642 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1291A>G (p.Arg431Gly) single nucleotide variant not provided [RCV002019097] Chr8:144440210 [GRCh38]
Chr8:145665593 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2156C>T (p.Ser719Phe) single nucleotide variant not provided [RCV001925372] Chr8:144436277 [GRCh38]
Chr8:145661660 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1011+3G>A single nucleotide variant not provided [RCV001885811] Chr8:144440963 [GRCh38]
Chr8:145666346 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2704C>T (p.Pro902Ser) single nucleotide variant not provided [RCV001883549] Chr8:144435729 [GRCh38]
Chr8:145661112 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3291G>T (p.Met1097Ile) single nucleotide variant not provided [RCV001980583] Chr8:144434074 [GRCh38]
Chr8:145659457 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.706_725dup (p.Ser242fs) duplication not provided [RCV001950847] Chr8:144442265..144442266 [GRCh38]
Chr8:145667648..145667649 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.3000T>G (p.Asn1000Lys) single nucleotide variant not provided [RCV002010567] Chr8:144435023 [GRCh38]
Chr8:145660406 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1066G>A (p.Val356Met) single nucleotide variant not provided [RCV001915652] Chr8:144440816 [GRCh38]
Chr8:145666199 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3240C>G (p.Asn1080Lys) single nucleotide variant not provided [RCV001995675] Chr8:144434125 [GRCh38]
Chr8:145659508 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.5G>T (p.Ser2Ile) single nucleotide variant Inborn genetic diseases [RCV002545706]|not provided [RCV002047149] Chr8:144444410 [GRCh38]
Chr8:145669793 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2515G>A (p.Asp839Asn) single nucleotide variant not provided [RCV001933134] Chr8:144435918 [GRCh38]
Chr8:145661301 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4004G>A (p.Arg1335Gln) single nucleotide variant not provided [RCV002014293] Chr8:144429276 [GRCh38]
Chr8:145654659 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3943+6T>A single nucleotide variant not provided [RCV001935065] Chr8:144430398 [GRCh38]
Chr8:145655781 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3052C>T (p.Arg1018Cys) single nucleotide variant not provided [RCV002026146] Chr8:144434844 [GRCh38]
Chr8:145660227 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1318G>A (p.Val440Met) single nucleotide variant not provided [RCV001978879] Chr8:144440183 [GRCh38]
Chr8:145665566 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3058C>T (p.Arg1020Cys) single nucleotide variant not provided [RCV002009884] Chr8:144434838 [GRCh38]
Chr8:145660221 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3809+5C>T single nucleotide variant not provided [RCV001991960] Chr8:144431073 [GRCh38]
Chr8:145656456 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
NM_013432.5(TONSL):c.343C>T (p.Arg115Cys) single nucleotide variant not provided [RCV001989246] Chr8:144443243 [GRCh38]
Chr8:145668626 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2222G>C (p.Ser741Thr) single nucleotide variant not provided [RCV001974910] Chr8:144436211 [GRCh38]
Chr8:145661594 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1891-1G>C single nucleotide variant not provided [RCV002014367] Chr8:144436682 [GRCh38]
Chr8:145662065 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NC_000008.10:g.(?_145666498)_(145668740_?)del deletion not provided [RCV001972367] Chr8:145666498..145668740 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.2497G>A (p.Gly833Arg) single nucleotide variant not provided [RCV002027430] Chr8:144435936 [GRCh38]
Chr8:145661319 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1481-18G>A single nucleotide variant not provided [RCV002028331] Chr8:144438753 [GRCh38]
Chr8:145664136 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.1627C>T (p.Arg543Cys) single nucleotide variant Inborn genetic diseases [RCV002573409]|not provided [RCV001973459] Chr8:144438497 [GRCh38]
Chr8:145663880 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2551C>T (p.Arg851Trp) single nucleotide variant Inborn genetic diseases [RCV003167102]|not provided [RCV001935356] Chr8:144435882 [GRCh38]
Chr8:145661265 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.402G>C (p.Gln134His) single nucleotide variant not provided [RCV001903231] Chr8:144443184 [GRCh38]
Chr8:145668567 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2639G>A (p.Arg880His) single nucleotide variant not provided [RCV001952329] Chr8:144435794 [GRCh38]
Chr8:145661177 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2638C>T (p.Arg880Cys) single nucleotide variant not provided [RCV002046559] Chr8:144435795 [GRCh38]
Chr8:145661178 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.556A>G (p.Arg186Gly) single nucleotide variant Inborn genetic diseases [RCV002551225]|not provided [RCV002032295] Chr8:144442699 [GRCh38]
Chr8:145668082 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1095G>A (p.Met365Ile) single nucleotide variant not provided [RCV001977998] Chr8:144440787 [GRCh38]
Chr8:145666170 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.866-20C>T single nucleotide variant not provided [RCV002017351] Chr8:144441131 [GRCh38]
Chr8:145666514 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.2781G>A (p.Pro927=) single nucleotide variant TONSL-related disorder [RCV003951099]|not provided [RCV002129805] Chr8:144435545 [GRCh38]
Chr8:145660928 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.105G>A (p.Glu35=) single nucleotide variant not provided [RCV002187739] Chr8:144444196 [GRCh38]
Chr8:145669579 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3831A>G (p.Ser1277=) single nucleotide variant not provided [RCV002088781] Chr8:144430516 [GRCh38]
Chr8:145655899 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.579-9C>T single nucleotide variant not provided [RCV002192720] Chr8:144442421 [GRCh38]
Chr8:145667804 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1464G>A (p.Val488=) single nucleotide variant not provided [RCV002187607] Chr8:144440037 [GRCh38]
Chr8:145665420 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3576G>A (p.Lys1192=) single nucleotide variant not provided [RCV002108252] Chr8:144432444 [GRCh38]
Chr8:145657827 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1291-15C>A single nucleotide variant not provided [RCV002125640] Chr8:144440225 [GRCh38]
Chr8:145665608 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1155C>T (p.Asn385=) single nucleotide variant not provided [RCV002189227] Chr8:144440727 [GRCh38]
Chr8:145666110 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3735+11G>A single nucleotide variant not provided [RCV002209021] Chr8:144432274 [GRCh38]
Chr8:145657657 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1809C>T (p.His603=) single nucleotide variant not provided [RCV002129034] Chr8:144436838 [GRCh38]
Chr8:145662221 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4080G>A (p.Pro1360=) single nucleotide variant not provided [RCV002085915] Chr8:144429200 [GRCh38]
Chr8:145654583 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3027G>A (p.Ser1009=) single nucleotide variant not provided [RCV002108521] Chr8:144434869 [GRCh38]
Chr8:145660252 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1563+13C>G single nucleotide variant not provided [RCV002189009] Chr8:144438640 [GRCh38]
Chr8:145664023 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.108C>T (p.Leu36=) single nucleotide variant not provided [RCV002090515] Chr8:144444193 [GRCh38]
Chr8:145669576 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1910C>T (p.Thr637Met) single nucleotide variant not provided [RCV002186947] Chr8:144436662 [GRCh38]
Chr8:145662045 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.450G>C (p.Gly150=) single nucleotide variant not provided [RCV002086362] Chr8:144442805 [GRCh38]
Chr8:145668188 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.969G>A (p.Lys323=) single nucleotide variant not provided [RCV002074630] Chr8:144441008 [GRCh38]
Chr8:145666391 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3165C>T (p.Asp1055=) single nucleotide variant not provided [RCV002130629] Chr8:144434200 [GRCh38]
Chr8:145659583 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.25+17C>T single nucleotide variant not provided [RCV002149103] Chr8:144444373 [GRCh38]
Chr8:145669756 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3003C>T (p.Asp1001=) single nucleotide variant not provided [RCV002148302] Chr8:144435020 [GRCh38]
Chr8:145660403 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3462C>T (p.His1154=) single nucleotide variant not provided [RCV002206393] Chr8:144433685 [GRCh38]
Chr8:145659068 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3828C>G (p.Pro1276=) single nucleotide variant not provided [RCV002210338] Chr8:144430519 [GRCh38]
Chr8:145655902 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3388-6C>T single nucleotide variant not provided [RCV002125100] Chr8:144433765 [GRCh38]
Chr8:145659148 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1480+12C>T single nucleotide variant not provided [RCV002073580] Chr8:144440009 [GRCh38]
Chr8:145665392 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1476G>A (p.Glu492=) single nucleotide variant not provided [RCV002188487] Chr8:144440025 [GRCh38]
Chr8:145665408 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.882G>A (p.Arg294=) single nucleotide variant not provided [RCV002165742] Chr8:144441095 [GRCh38]
Chr8:145666478 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3312C>T (p.Asp1104=) single nucleotide variant not provided [RCV002168120] Chr8:144434053 [GRCh38]
Chr8:145659436 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2916C>T (p.Cys972=) single nucleotide variant not provided [RCV002130304] Chr8:144435107 [GRCh38]
Chr8:145660490 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2775+18G>A single nucleotide variant not provided [RCV002125842] Chr8:144435640 [GRCh38]
Chr8:145661023 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1032G>A (p.Leu344=) single nucleotide variant not provided [RCV002088689] Chr8:144440850 [GRCh38]
Chr8:145666233 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.448+19G>A single nucleotide variant not provided [RCV002076041] Chr8:144443119 [GRCh38]
Chr8:145668502 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3645C>T (p.Ala1215=) single nucleotide variant not provided [RCV002206312] Chr8:144432375 [GRCh38]
Chr8:145657758 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1481-17G>A single nucleotide variant not provided [RCV002147054] Chr8:144438752 [GRCh38]
Chr8:145664135 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.513C>T (p.Thr171=) single nucleotide variant not provided [RCV002145650] Chr8:144442742 [GRCh38]
Chr8:145668125 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3007-18C>T single nucleotide variant not provided [RCV002087974] Chr8:144434907 [GRCh38]
Chr8:145660290 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3582G>A (p.Leu1194=) single nucleotide variant not provided [RCV002109064] Chr8:144432438 [GRCh38]
Chr8:145657821 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1441G>A (p.Glu481Lys) single nucleotide variant Inborn genetic diseases [RCV004046496]|TONSL-related disorder [RCV003958832]|not provided [RCV002108900] Chr8:144440060 [GRCh38]
Chr8:145665443 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1653+9C>T single nucleotide variant TONSL-related disorder [RCV003958778]|not provided [RCV002146921] Chr8:144438462 [GRCh38]
Chr8:145663845 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1858C>A (p.Arg620=) single nucleotide variant not provided [RCV002127440] Chr8:144436789 [GRCh38]
Chr8:145662172 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1480+10A>G single nucleotide variant not provided [RCV002147927] Chr8:144440011 [GRCh38]
Chr8:145665394 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.868C>T (p.Leu290=) single nucleotide variant not provided [RCV002147429] Chr8:144441109 [GRCh38]
Chr8:145666492 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2676C>T (p.Asn892=) single nucleotide variant not provided [RCV002074610] Chr8:144435757 [GRCh38]
Chr8:145661140 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1291-14C>T single nucleotide variant not provided [RCV002191403] Chr8:144440224 [GRCh38]
Chr8:145665607 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2512C>T (p.Leu838=) single nucleotide variant not provided [RCV002169433] Chr8:144435921 [GRCh38]
Chr8:145661304 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3429C>T (p.Asp1143=) single nucleotide variant not provided [RCV002187163] Chr8:144433718 [GRCh38]
Chr8:145659101 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3336C>G (p.Pro1112=) single nucleotide variant not provided [RCV002191220] Chr8:144434029 [GRCh38]
Chr8:145659412 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1800C>T (p.Thr600=) single nucleotide variant not provided [RCV002209729] Chr8:144436847 [GRCh38]
Chr8:145662230 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.750+11T>C single nucleotide variant not provided [RCV002188670] Chr8:144442230 [GRCh38]
Chr8:145667613 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1881C>T (p.Arg627=) single nucleotide variant not provided [RCV002075841] Chr8:144436766 [GRCh38]
Chr8:145662149 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3388-17G>A single nucleotide variant not provided [RCV002210478] Chr8:144433776 [GRCh38]
Chr8:145659159 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3184C>T (p.Leu1062=) single nucleotide variant not provided [RCV002088561] Chr8:144434181 [GRCh38]
Chr8:145659564 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1653+13C>G single nucleotide variant not provided [RCV002116383] Chr8:144438458 [GRCh38]
Chr8:145663841 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.259T>C (p.Leu87=) single nucleotide variant not provided [RCV002197239] Chr8:144443887 [GRCh38]
Chr8:145669270 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1875C>T (p.Thr625=) single nucleotide variant not provided [RCV002096055] Chr8:144436772 [GRCh38]
Chr8:145662155 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1065C>T (p.His355=) single nucleotide variant not provided [RCV002124566] Chr8:144440817 [GRCh38]
Chr8:145666200 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3594C>T (p.Tyr1198=) single nucleotide variant not provided [RCV002172404] Chr8:144432426 [GRCh38]
Chr8:145657809 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3222G>A (p.Glu1074=) single nucleotide variant not provided [RCV002089417] Chr8:144434143 [GRCh38]
Chr8:145659526 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1653+16G>A single nucleotide variant not provided [RCV002191386] Chr8:144438455 [GRCh38]
Chr8:145663838 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.597G>A (p.Glu199=) single nucleotide variant not provided [RCV002209657] Chr8:144442394 [GRCh38]
Chr8:145667777 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1398T>C (p.Asp466=) single nucleotide variant not provided [RCV002134481] Chr8:144440103 [GRCh38]
Chr8:145665486 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1998G>A (p.Ala666=) single nucleotide variant not provided [RCV002097458] Chr8:144436574 [GRCh38]
Chr8:145661957 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.578+15C>T single nucleotide variant not provided [RCV002151350] Chr8:144442662 [GRCh38]
Chr8:145668045 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2844C>T (p.Val948=) single nucleotide variant not provided [RCV002096295] Chr8:144435482 [GRCh38]
Chr8:145660865 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4131C>T (p.Arg1377=) single nucleotide variant not provided [RCV002213071] Chr8:144429149 [GRCh38]
Chr8:145654532 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.644C>T (p.Ala215Val) single nucleotide variant not provided [RCV002116585] Chr8:144442347 [GRCh38]
Chr8:145667730 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3510C>A (p.Gly1170=) single nucleotide variant not provided [RCV002205434] Chr8:144433637 [GRCh38]
Chr8:145659020 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3006+7C>T single nucleotide variant not provided [RCV002211937] Chr8:144435010 [GRCh38]
Chr8:145660393 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1869C>T (p.Ser623=) single nucleotide variant TONSL-related disorder [RCV003958515]|not provided [RCV002175045] Chr8:144436778 [GRCh38]
Chr8:145662161 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1905G>A (p.Leu635=) single nucleotide variant not provided [RCV002212756] Chr8:144436667 [GRCh38]
Chr8:145662050 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1011+13G>A single nucleotide variant not provided [RCV002130941] Chr8:144440953 [GRCh38]
Chr8:145666336 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1008G>A (p.Lys336=) single nucleotide variant not provided [RCV002150489] Chr8:144440969 [GRCh38]
Chr8:145666352 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2014+19G>T single nucleotide variant not provided [RCV002132029] Chr8:144436539 [GRCh38]
Chr8:145661922 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2025C>T (p.Ser675=) single nucleotide variant not provided [RCV002105041] Chr8:144436408 [GRCh38]
Chr8:145661791 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.449-18T>A single nucleotide variant not provided [RCV002187748] Chr8:144442824 [GRCh38]
Chr8:145668207 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2014+15C>G single nucleotide variant not provided [RCV002132107] Chr8:144436543 [GRCh38]
Chr8:145661926 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.1891-5C>A single nucleotide variant not provided [RCV002085451] Chr8:144436686 [GRCh38]
Chr8:145662069 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2529C>G (p.Thr843=) single nucleotide variant not provided [RCV002087517] Chr8:144435904 [GRCh38]
Chr8:145661287 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.866-6C>T single nucleotide variant not provided [RCV002215860] Chr8:144441117 [GRCh38]
Chr8:145666500 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1440C>T (p.Ser480=) single nucleotide variant not provided [RCV002214697] Chr8:144440061 [GRCh38]
Chr8:145665444 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1357G>A (p.Glu453Lys) single nucleotide variant Inborn genetic diseases [RCV004681452]|not provided [RCV002134287] Chr8:144440144 [GRCh38]
Chr8:145665527 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.1485C>T (p.Asp495=) single nucleotide variant not provided [RCV002152083] Chr8:144438731 [GRCh38]
Chr8:145664114 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.642C>T (p.Arg214=) single nucleotide variant not provided [RCV002173654] Chr8:144442349 [GRCh38]
Chr8:145667732 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.10G>C (p.Glu4Gln) single nucleotide variant Inborn genetic diseases [RCV004046605]|not provided [RCV002134263] Chr8:144444405 [GRCh38]
Chr8:145669788 [GRCh37]
Chr8:8q24.3		 benign|uncertain significance
NM_013432.5(TONSL):c.3085+15A>C single nucleotide variant not provided [RCV002191016] Chr8:144434796 [GRCh38]
Chr8:145660179 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3736-20G>C single nucleotide variant not provided [RCV002077563] Chr8:144431171 [GRCh38]
Chr8:145656554 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1594C>T (p.Leu532=) single nucleotide variant not provided [RCV002170276] Chr8:144438530 [GRCh38]
Chr8:145663913 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1936C>T (p.Arg646Cys) single nucleotide variant not provided [RCV002194173] Chr8:144436636 [GRCh38]
Chr8:145662019 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2853-28AGC[5] microsatellite not provided [RCV002133724] Chr8:144435186..144435187 [GRCh38]
Chr8:145660569..145660570 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.264+9G>A single nucleotide variant not provided [RCV002213221] Chr8:144443873 [GRCh38]
Chr8:145669256 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3138G>A (p.Ser1046=) single nucleotide variant not provided [RCV002095642] Chr8:144434227 [GRCh38]
Chr8:145659610 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1653+12T>G single nucleotide variant not provided [RCV002079160] Chr8:144438459 [GRCh38]
Chr8:145663842 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3636C>T (p.Ser1212=) single nucleotide variant not provided [RCV002109717] Chr8:144432384 [GRCh38]
Chr8:145657767 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2677G>A (p.Ala893Thr) single nucleotide variant TONSL-related disorder [RCV003923504]|not provided [RCV002194866] Chr8:144435756 [GRCh38]
Chr8:145661139 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1631G>A (p.Arg544His) single nucleotide variant Inborn genetic diseases [RCV003007128]|not provided [RCV002112869] Chr8:144438493 [GRCh38]
Chr8:145663876 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.1866G>A (p.Ala622=) single nucleotide variant not provided [RCV002132643] Chr8:144436781 [GRCh38]
Chr8:145662164 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.408C>G (p.Ala136=) single nucleotide variant not provided [RCV002131560] Chr8:144443178 [GRCh38]
Chr8:145668561 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2265G>A (p.Pro755=) single nucleotide variant not provided [RCV002194570] Chr8:144436168 [GRCh38]
Chr8:145661551 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1251G>A (p.Ala417=) single nucleotide variant not provided [RCV002094246] Chr8:144440390 [GRCh38]
Chr8:145665773 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2775+12G>C single nucleotide variant not provided [RCV002194373] Chr8:144435646 [GRCh38]
Chr8:145661029 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2938C>T (p.Leu980=) single nucleotide variant not provided [RCV002194724] Chr8:144435085 [GRCh38]
Chr8:145660468 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.527A>G (p.Gln176Arg) single nucleotide variant not provided [RCV002111828] Chr8:144442728 [GRCh38]
Chr8:145668111 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1833C>T (p.Phe611=) single nucleotide variant not provided [RCV002075473] Chr8:144436814 [GRCh38]
Chr8:145662197 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3597C>T (p.Asn1199=) single nucleotide variant not provided [RCV002212341] Chr8:144432423 [GRCh38]
Chr8:145657806 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3086-5C>T single nucleotide variant not provided [RCV002212342] Chr8:144434284 [GRCh38]
Chr8:145659667 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.578+13C>T single nucleotide variant not provided [RCV002151426] Chr8:144442664 [GRCh38]
Chr8:145668047 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.502C>T (p.Leu168=) single nucleotide variant not provided [RCV002172767] Chr8:144442753 [GRCh38]
Chr8:145668136 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2760G>A (p.Ala920=) single nucleotide variant not provided [RCV002173431] Chr8:144435673 [GRCh38]
Chr8:145661056 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1653+10G>A single nucleotide variant not provided [RCV002157207] Chr8:144438461 [GRCh38]
Chr8:145663844 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_013432.5(TONSL):c.2775+19A>G single nucleotide variant not provided [RCV002181019] Chr8:144435639 [GRCh38]
Chr8:145661022 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4041G>A (p.Glu1347=) single nucleotide variant not provided [RCV002159758] Chr8:144429239 [GRCh38]
Chr8:145654622 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3237G>A (p.Gly1079=) single nucleotide variant not provided [RCV002102174] Chr8:144434128 [GRCh38]
Chr8:145659511 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2442C>T (p.His814=) single nucleotide variant not provided [RCV002201801] Chr8:144435991 [GRCh38]
Chr8:145661374 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2015-19C>T single nucleotide variant not provided [RCV002118082] Chr8:144436437 [GRCh38]
Chr8:145661820 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.3952G>A (p.Val1318Ile) single nucleotide variant Inborn genetic diseases [RCV003269124]|not provided [RCV002200129] Chr8:144429328 [GRCh38]
Chr8:145654711 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.1633G>A (p.Val545Ile) single nucleotide variant not provided [RCV002176026] Chr8:144438491 [GRCh38]
Chr8:145663874 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2338A>C (p.Arg780=) single nucleotide variant not provided [RCV002102317] Chr8:144436095 [GRCh38]
Chr8:145661478 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2776-15G>A single nucleotide variant not provided [RCV002158371] Chr8:144435565 [GRCh38]
Chr8:145660948 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3809+9C>G single nucleotide variant TONSL-related disorder [RCV003913705]|not provided [RCV002120264] Chr8:144431069 [GRCh38]
Chr8:145656452 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1458C>T (p.Gly486=) single nucleotide variant not provided [RCV002155082] Chr8:144440043 [GRCh38]
Chr8:145665426 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.448+16C>T single nucleotide variant not provided [RCV002118669] Chr8:144443122 [GRCh38]
Chr8:145668505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2015-16A>G single nucleotide variant not provided [RCV002217777] Chr8:144436434 [GRCh38]
Chr8:145661817 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3243G>A (p.Arg1081=) single nucleotide variant not provided [RCV002137037] Chr8:144434122 [GRCh38]
Chr8:145659505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1290+9G>C single nucleotide variant not provided [RCV002121311] Chr8:144440342 [GRCh38]
Chr8:145665725 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1135C>T (p.Leu379=) single nucleotide variant not provided [RCV002123260] Chr8:144440747 [GRCh38]
Chr8:145666130 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2168C>T (p.Ala723Val) single nucleotide variant Inborn genetic diseases [RCV003161518]|not provided [RCV002117654] Chr8:144436265 [GRCh38]
Chr8:145661648 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.2667G>A (p.Ala889=) single nucleotide variant not provided [RCV002119813] Chr8:144435766 [GRCh38]
Chr8:145661149 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2214C>T (p.Ala738=) single nucleotide variant not provided [RCV002156239] Chr8:144436219 [GRCh38]
Chr8:145661602 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2193G>A (p.Arg731=) single nucleotide variant not provided [RCV002200117] Chr8:144436240 [GRCh38]
Chr8:145661623 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1413G>A (p.Ala471=) single nucleotide variant not provided [RCV002177767] Chr8:144440088 [GRCh38]
Chr8:145665471 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.3551C>T (p.Ala1184Val) single nucleotide variant TONSL-related disorder [RCV003933520]|not provided [RCV002082058] Chr8:144433596 [GRCh38]
Chr8:145658979 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.449-11dup duplication not provided [RCV002163971] Chr8:144442816..144442817 [GRCh38]
Chr8:145668199..145668200 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.750+7G>A single nucleotide variant not provided [RCV002183784] Chr8:144442234 [GRCh38]
Chr8:145667617 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1654-15T>C single nucleotide variant not provided [RCV002178272] Chr8:144437114 [GRCh38]
Chr8:145662497 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3630G>A (p.Leu1210=) single nucleotide variant not provided [RCV002164238] Chr8:144432390 [GRCh38]
Chr8:145657773 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.26-18C>G single nucleotide variant not provided [RCV002099179] Chr8:144444293 [GRCh38]
Chr8:145669676 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2088C>T (p.Ser696=) single nucleotide variant TONSL-related disorder [RCV003903428]|not provided [RCV002142243] Chr8:144436345 [GRCh38]
Chr8:145661728 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1455C>T (p.Ala485=) single nucleotide variant not provided [RCV002182357] Chr8:144440046 [GRCh38]
Chr8:145665429 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2100A>G (p.Glu700=) single nucleotide variant not provided [RCV002162808] Chr8:144436333 [GRCh38]
Chr8:145661716 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1726+18G>A single nucleotide variant not provided [RCV002160723] Chr8:144437009 [GRCh38]
Chr8:145662392 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.579-16C>T single nucleotide variant not provided [RCV002143991] Chr8:144442428 [GRCh38]
Chr8:145667811 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2846C>A (p.Pro949Gln) single nucleotide variant not provided [RCV002081329] Chr8:144435480 [GRCh38]
Chr8:145660863 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2776-25_2776-16del deletion not provided [RCV002203085] Chr8:144435566..144435575 [GRCh38]
Chr8:145660949..145660958 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3453C>T (p.Ser1151=) single nucleotide variant TONSL-related disorder [RCV003903395]|not provided [RCV002122872] Chr8:144433694 [GRCh38]
Chr8:145659077 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.2007G>A (p.Ser669=) single nucleotide variant not provided [RCV002142598] Chr8:144436565 [GRCh38]
Chr8:145661948 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3717A>T (p.Val1239=) single nucleotide variant not provided [RCV002140734] Chr8:144432303 [GRCh38]
Chr8:145657686 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.865+19A>G single nucleotide variant not provided [RCV002201773] Chr8:144442018 [GRCh38]
Chr8:145667401 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2624G>C (p.Arg875Pro) single nucleotide variant TONSL-related disorder [RCV003923799]|not provided [RCV002154430] Chr8:144435809 [GRCh38]
Chr8:145661192 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3508G>A (p.Gly1170Ser) single nucleotide variant not provided [RCV002103831] Chr8:144433639 [GRCh38]
Chr8:145659022 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3687C>T (p.Gly1229=) single nucleotide variant not provided [RCV002120056] Chr8:144432333 [GRCh38]
Chr8:145657716 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3810-12A>T single nucleotide variant not provided [RCV002142882] Chr8:144430549 [GRCh38]
Chr8:145655932 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1404G>A (p.Glu468=) single nucleotide variant not provided [RCV002181102] Chr8:144440097 [GRCh38]
Chr8:145665480 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1164+18C>T single nucleotide variant not provided [RCV002198589] Chr8:144440700 [GRCh38]
Chr8:145666083 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.579-15G>A single nucleotide variant not provided [RCV002200576] Chr8:144442427 [GRCh38]
Chr8:145667810 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3498G>A (p.Ala1166=) single nucleotide variant not provided [RCV002219462] Chr8:144433649 [GRCh38]
Chr8:145659032 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2451C>A (p.Ala817=) single nucleotide variant not provided [RCV002161930] Chr8:144435982 [GRCh38]
Chr8:145661365 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1464G>C (p.Val488=) single nucleotide variant not provided [RCV002120727] Chr8:144440037 [GRCh38]
Chr8:145665420 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.448+17G>A single nucleotide variant not provided [RCV002118781] Chr8:144443121 [GRCh38]
Chr8:145668504 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.25+16A>T single nucleotide variant not provided [RCV002143676] Chr8:144444374 [GRCh38]
Chr8:145669757 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1950C>G (p.Asp650Glu) single nucleotide variant TONSL-related disorder [RCV004734464]|not provided [RCV002118965] Chr8:144436622 [GRCh38]
Chr8:145662005 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1480+13G>A single nucleotide variant not provided [RCV002143748] Chr8:144440008 [GRCh38]
Chr8:145665391 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1447C>T (p.Leu483=) single nucleotide variant not provided [RCV002103195] Chr8:144440054 [GRCh38]
Chr8:145665437 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.25+17C>G single nucleotide variant not provided [RCV002199840] Chr8:144444373 [GRCh38]
Chr8:145669756 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.449-17G>T single nucleotide variant not provided [RCV002155967] Chr8:144442823 [GRCh38]
Chr8:145668206 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3507C>T (p.Phe1169=) single nucleotide variant not provided [RCV002159652] Chr8:144433640 [GRCh38]
Chr8:145659023 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1233C>T (p.Ala411=) single nucleotide variant not provided [RCV002179782] Chr8:144440408 [GRCh38]
Chr8:145665791 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2169G>A (p.Ala723=) single nucleotide variant not provided [RCV002154431] Chr8:144436264 [GRCh38]
Chr8:145661647 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3914C>T (p.Pro1305Leu) single nucleotide variant Inborn genetic diseases [RCV002562972]|TONSL-related disorder [RCV003968812]|not provided [RCV002217110] Chr8:144430433 [GRCh38]
Chr8:145655816 [GRCh37]
Chr8:8q24.3		 benign|likely benign|uncertain significance
NM_013432.5(TONSL):c.1191A>G (p.Ala397=) single nucleotide variant TONSL-related disorder [RCV003951305]|not provided [RCV002200515] Chr8:144440450 [GRCh38]
Chr8:145665833 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.576G>T (p.Ala192=) single nucleotide variant not provided [RCV002200610] Chr8:144442679 [GRCh38]
Chr8:145668062 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3294C>A (p.Pro1098=) single nucleotide variant not provided [RCV002141381] Chr8:144434071 [GRCh38]
Chr8:145659454 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_013432.5(TONSL):c.2244C>T (p.Asp748=) single nucleotide variant not provided [RCV002138484] Chr8:144436189 [GRCh38]
Chr8:145661572 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1236G>A (p.Pro412=) single nucleotide variant not provided [RCV002101465] Chr8:144440405 [GRCh38]
Chr8:145665788 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3996G>T (p.Ala1332=) single nucleotide variant not provided [RCV002158683] Chr8:144429284 [GRCh38]
Chr8:145654667 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.710A>G (p.Lys237Arg) single nucleotide variant TONSL-related disorder [RCV003951274]|not provided [RCV002144357] Chr8:144442281 [GRCh38]
Chr8:145667664 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2856T>C (p.Ser952=) single nucleotide variant not provided [RCV002163091] Chr8:144435167 [GRCh38]
Chr8:145660550 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2853-16G>A single nucleotide variant not provided [RCV002082834] Chr8:144435186 [GRCh38]
Chr8:145660569 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.579-3C>T single nucleotide variant not provided [RCV003112393] Chr8:144442415 [GRCh38]
Chr8:145667798 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145654526)_(145656554_?)dup duplication not provided [RCV003116659] Chr8:145654526..145656554 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145664016)_(145668209_?)dup duplication not provided [RCV003116660] Chr8:145664016..145668209 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NC_000008.10:g.(?_145654526)_(145669797_?)dup duplication not provided [RCV003116661] Chr8:145654526..145669797 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1614C>T (p.Ile538=) single nucleotide variant not provided [RCV003118232] Chr8:144438510 [GRCh38]
Chr8:145663893 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2974C>T (p.Leu992Phe) single nucleotide variant not provided [RCV003118268] Chr8:144435049 [GRCh38]
Chr8:145660432 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2318C>T (p.Thr773Met) single nucleotide variant not provided [RCV003117337] Chr8:144436115 [GRCh38]
Chr8:145661498 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3497C>T (p.Ala1166Val) single nucleotide variant not provided [RCV003115167] Chr8:144433650 [GRCh38]
Chr8:145659033 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2756C>G (p.Ser919Cys) single nucleotide variant not provided [RCV003118688] Chr8:144435677 [GRCh38]
Chr8:145661060 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3488G>A (p.Arg1163His) single nucleotide variant Inborn genetic diseases [RCV003162144]|not provided [RCV003121092] Chr8:144433659 [GRCh38]
Chr8:145659042 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.3166C>T (p.Gln1056Ter) single nucleotide variant Sponastrime dysplasia [RCV004797222] Chr8:144434199 [GRCh38]
Chr8:145659582 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.466_467delinsTT (p.Glu156Leu) indel not provided [RCV002274597] Chr8:144442788..144442789 [GRCh38]
Chr8:145668171..145668172 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_013432.5(TONSL):c.611C>G (p.Ala204Gly) single nucleotide variant Inborn genetic diseases [RCV003288124] Chr8:144442380 [GRCh38]
Chr8:145667763 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3809+36G>A single nucleotide variant Sponastrime dysplasia [RCV002471546] Chr8:144431042 [GRCh38]
Chr8:145656425 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.750+1G>A single nucleotide variant not provided [RCV002726564] Chr8:144442240 [GRCh38]
Chr8:145667623 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.3549del (p.Ser1183fs) deletion Sponastrime dysplasia [RCV002471485] Chr8:144433598 [GRCh38]
Chr8:145658981 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.295T>C (p.Ser99Pro) single nucleotide variant Inborn genetic diseases [RCV002772413] Chr8:144443291 [GRCh38]
Chr8:145668674 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2621C>T (p.Ala874Val) single nucleotide variant not provided [RCV002304723] Chr8:144435812 [GRCh38]
Chr8:145661195 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2665G>A (p.Ala889Thr) single nucleotide variant not provided [RCV002295400] Chr8:144435768 [GRCh38]
Chr8:145661151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.739G>A (p.Val247Ile) single nucleotide variant not provided [RCV002301973] Chr8:144442252 [GRCh38]
Chr8:145667635 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.788G>C (p.Arg263Pro) single nucleotide variant not provided [RCV002298333] Chr8:144442114 [GRCh38]
Chr8:145667497 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.881G>T (p.Arg294Leu) single nucleotide variant not provided [RCV002295273] Chr8:144441096 [GRCh38]
Chr8:145666479 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.948G>T (p.Gln316His) single nucleotide variant not provided [RCV002296092] Chr8:144441029 [GRCh38]
Chr8:145666412 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2484G>C (p.Glu828Asp) single nucleotide variant not provided [RCV003033399] Chr8:144435949 [GRCh38]
Chr8:145661332 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2274G>A (p.Lys758=) single nucleotide variant not provided [RCV002726533] Chr8:144436159 [GRCh38]
Chr8:145661542 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3086-13A>G single nucleotide variant not provided [RCV002686082] Chr8:144434292 [GRCh38]
Chr8:145659675 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2618G>C (p.Arg873Pro) single nucleotide variant Inborn genetic diseases [RCV003080718]|not provided [RCV003095603] Chr8:144435815 [GRCh38]
Chr8:145661198 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3613G>T (p.Ala1205Ser) single nucleotide variant not provided [RCV003074670] Chr8:144432407 [GRCh38]
Chr8:145657790 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3939G>A (p.Leu1313=) single nucleotide variant not provided [RCV002995665] Chr8:144430408 [GRCh38]
Chr8:145655791 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3342C>A (p.Gly1114=) single nucleotide variant not provided [RCV002903538] Chr8:144434023 [GRCh38]
Chr8:145659406 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1542G>A (p.Leu514=) single nucleotide variant not provided [RCV002903978] Chr8:144438674 [GRCh38]
Chr8:145664057 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.585C>T (p.Asn195=) single nucleotide variant not provided [RCV002880936] Chr8:144442406 [GRCh38]
Chr8:145667789 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3944-20T>C single nucleotide variant not provided [RCV002730500] Chr8:144429356 [GRCh38]
Chr8:145654739 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1150G>A (p.Gly384Ser) single nucleotide variant not provided [RCV002972062] Chr8:144440732 [GRCh38]
Chr8:145666115 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2931G>C (p.Arg977Ser) single nucleotide variant Inborn genetic diseases [RCV002751400]|not provided [RCV002751401] Chr8:144435092 [GRCh38]
Chr8:145660475 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.701C>T (p.Thr234Ile) single nucleotide variant Inborn genetic diseases [RCV004681583]|not provided [RCV002972397] Chr8:144442290 [GRCh38]
Chr8:145667673 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3134T>C (p.Leu1045Pro) single nucleotide variant Inborn genetic diseases [RCV002863941] Chr8:144434231 [GRCh38]
Chr8:145659614 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2613G>A (p.Arg871=) single nucleotide variant not provided [RCV002616885] Chr8:144435820 [GRCh38]
Chr8:145661203 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3822G>C (p.Leu1274=) single nucleotide variant not provided [RCV003017026] Chr8:144430525 [GRCh38]
Chr8:145655908 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3421C>G (p.Leu1141Val) single nucleotide variant not provided [RCV002690238] Chr8:144433726 [GRCh38]
Chr8:145659109 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1902G>A (p.Pro634=) single nucleotide variant not provided [RCV002908449] Chr8:144436670 [GRCh38]
Chr8:145662053 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4027C>T (p.Arg1343Cys) single nucleotide variant not provided [RCV003074589] Chr8:144429253 [GRCh38]
Chr8:145654636 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2192G>A (p.Arg731Gln) single nucleotide variant Inborn genetic diseases [RCV002974694] Chr8:144436241 [GRCh38]
Chr8:145661624 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2669C>A (p.Pro890Gln) single nucleotide variant not provided [RCV002819211] Chr8:144435764 [GRCh38]
Chr8:145661147 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2418G>A (p.Leu806=) single nucleotide variant not provided [RCV003011748] Chr8:144436015 [GRCh38]
Chr8:145661398 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1351G>C (p.Glu451Gln) single nucleotide variant not provided [RCV003035075] Chr8:144440150 [GRCh38]
Chr8:145665533 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3698C>T (p.Ser1233Leu) single nucleotide variant not provided [RCV002751248] Chr8:144432322 [GRCh38]
Chr8:145657705 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3853G>A (p.Ala1285Thr) single nucleotide variant not provided [RCV002947657] Chr8:144430494 [GRCh38]
Chr8:145655877 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1587G>A (p.Gly529=) single nucleotide variant not provided [RCV002731522] Chr8:144438537 [GRCh38]
Chr8:145663920 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3189G>A (p.Leu1063=) single nucleotide variant not provided [RCV002681586] Chr8:144434176 [GRCh38]
Chr8:145659559 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.649C>G (p.Gln217Glu) single nucleotide variant not provided [RCV002842646] Chr8:144442342 [GRCh38]
Chr8:145667725 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1422G>A (p.Ala474=) single nucleotide variant not provided [RCV002614464] Chr8:144440079 [GRCh38]
Chr8:145665462 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3288C>T (p.Thr1096=) single nucleotide variant not provided [RCV002863413] Chr8:144434077 [GRCh38]
Chr8:145659460 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.865+20T>C single nucleotide variant not provided [RCV002861431] Chr8:144442017 [GRCh38]
Chr8:145667400 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.25+16A>G single nucleotide variant not provided [RCV003013993] Chr8:144444374 [GRCh38]
Chr8:145669757 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.650A>G (p.Gln217Arg) single nucleotide variant not provided [RCV002774974] Chr8:144442341 [GRCh38]
Chr8:145667724 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2775+20G>A single nucleotide variant not provided [RCV002861605] Chr8:144435638 [GRCh38]
Chr8:145661021 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2089C>T (p.Pro697Ser) single nucleotide variant Inborn genetic diseases [RCV002979365]|not provided [RCV002972396] Chr8:144436344 [GRCh38]
Chr8:145661727 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3675C>T (p.Ser1225=) single nucleotide variant not provided [RCV003075559] Chr8:144432345 [GRCh38]
Chr8:145657728 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2592G>C (p.Gly864=) single nucleotide variant not provided [RCV003097525] Chr8:144435841 [GRCh38]
Chr8:145661224 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2539C>T (p.Arg847Trp) single nucleotide variant not provided [RCV003097539] Chr8:144435894 [GRCh38]
Chr8:145661277 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1200C>T (p.Arg400=) single nucleotide variant not provided [RCV002971152] Chr8:144440441 [GRCh38]
Chr8:145665824 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2270A>G (p.Gln757Arg) single nucleotide variant not provided [RCV003014624] Chr8:144436163 [GRCh38]
Chr8:145661546 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3891C>T (p.Leu1297=) single nucleotide variant not provided [RCV002972489] Chr8:144430456 [GRCh38]
Chr8:145655839 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4119CTT[1] (p.Phe1375del) microsatellite not provided [RCV002903274] Chr8:144429156..144429158 [GRCh38]
Chr8:145654539..145654541 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2530C>T (p.Arg844Cys) single nucleotide variant Inborn genetic diseases [RCV002908215]|not provided [RCV002908214] Chr8:144435903 [GRCh38]
Chr8:145661286 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1165-13C>T single nucleotide variant not provided [RCV002613371] Chr8:144440489 [GRCh38]
Chr8:145665872 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2267C>T (p.Ser756Phe) single nucleotide variant Inborn genetic diseases [RCV002778722] Chr8:144436166 [GRCh38]
Chr8:145661549 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2282G>A (p.Arg761Gln) single nucleotide variant Inborn genetic diseases [RCV002748835] Chr8:144436151 [GRCh38]
Chr8:145661534 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3643G>A (p.Ala1215Thr) single nucleotide variant not provided [RCV002616629] Chr8:144432377 [GRCh38]
Chr8:145657760 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3387+10C>G single nucleotide variant not provided [RCV002731098] Chr8:144433968 [GRCh38]
Chr8:145659351 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.561G>C (p.Lys187Asn) single nucleotide variant not provided [RCV002681302] Chr8:144442694 [GRCh38]
Chr8:145668077 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.663T>C (p.Ala221=) single nucleotide variant not provided [RCV002839015] Chr8:144442328 [GRCh38]
Chr8:145667711 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.488G>A (p.Arg163His) single nucleotide variant not provided [RCV002617567] Chr8:144442767 [GRCh38]
Chr8:145668150 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3729G>C (p.Leu1243=) single nucleotide variant not provided [RCV002617795] Chr8:144432291 [GRCh38]
Chr8:145657674 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4052C>G (p.Ala1351Gly) single nucleotide variant Inborn genetic diseases [RCV002860240] Chr8:144429228 [GRCh38]
Chr8:145654611 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2215AGC[7] (p.Ser744_Glu745insSerSer) microsatellite not provided [RCV002755626] Chr8:144436203..144436204 [GRCh38]
Chr8:145661586..145661587 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1883C>T (p.Thr628Ile) single nucleotide variant Inborn genetic diseases [RCV002972667]|not provided [RCV002972668] Chr8:144436764 [GRCh38]
Chr8:145662147 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1114G>A (p.Val372Met) single nucleotide variant not provided [RCV002927794] Chr8:144440768 [GRCh38]
Chr8:145666151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3007-13C>T single nucleotide variant not provided [RCV002593173] Chr8:144434902 [GRCh38]
Chr8:145660285 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3050A>G (p.Asp1017Gly) single nucleotide variant not provided [RCV002953159] Chr8:144434846 [GRCh38]
Chr8:145660229 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.802G>A (p.Ala268Thr) single nucleotide variant Inborn genetic diseases [RCV002848947] Chr8:144442100 [GRCh38]
Chr8:145667483 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3967GGCCTG[3] (p.Leu1326_Trp1327insGlyLeu) microsatellite not provided [RCV002800461] Chr8:144429301..144429302 [GRCh38]
Chr8:145654684..145654685 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.182_192del (p.Asp61fs) deletion not provided [RCV002695797] Chr8:144443954..144443964 [GRCh38]
Chr8:145669337..145669347 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.1727-16G>A single nucleotide variant not provided [RCV002570900] Chr8:144436936 [GRCh38]
Chr8:145662319 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.449-16G>C single nucleotide variant not provided [RCV002695876] Chr8:144442822 [GRCh38]
Chr8:145668205 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1579G>A (p.Asp527Asn) single nucleotide variant not provided [RCV002923272] Chr8:144438545 [GRCh38]
Chr8:145663928 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1369C>T (p.Arg457Trp) single nucleotide variant Inborn genetic diseases [RCV002925540] Chr8:144440132 [GRCh38]
Chr8:145665515 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.696G>A (p.Ala232=) single nucleotide variant not provided [RCV002662994] Chr8:144442295 [GRCh38]
Chr8:145667678 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.109C>T (p.Leu37=) single nucleotide variant not provided [RCV002824647] Chr8:144444192 [GRCh38]
Chr8:145669575 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2334C>T (p.Ser778=) single nucleotide variant not provided [RCV002593223] Chr8:144436099 [GRCh38]
Chr8:145661482 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.799A>G (p.Lys267Glu) single nucleotide variant not provided [RCV002926694] Chr8:144442103 [GRCh38]
Chr8:145667486 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3944-11C>G single nucleotide variant not provided [RCV002662777] Chr8:144429347 [GRCh38]
Chr8:145654730 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3085+6G>C single nucleotide variant not provided [RCV002927758] Chr8:144434805 [GRCh38]
Chr8:145660188 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.169C>T (p.Arg57Trp) single nucleotide variant not provided [RCV002590962] Chr8:144443977 [GRCh38]
Chr8:145669360 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1653+19C>T single nucleotide variant not provided [RCV002662731] Chr8:144438452 [GRCh38]
Chr8:145663835 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1353_1365del (p.Glu451fs) deletion not provided [RCV002695956] Chr8:144440136..144440148 [GRCh38]
Chr8:145665519..145665531 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.487C>T (p.Arg163Cys) single nucleotide variant not provided [RCV002760347] Chr8:144442768 [GRCh38]
Chr8:145668151 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.312G>A (p.Thr104=) single nucleotide variant not provided [RCV002569792] Chr8:144443274 [GRCh38]
Chr8:145668657 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2205T>C (p.His735=) single nucleotide variant not provided [RCV002659401] Chr8:144436228 [GRCh38]
Chr8:145661611 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1188T>C (p.Ile396=) single nucleotide variant not provided [RCV002690761] Chr8:144440453 [GRCh38]
Chr8:145665836 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.928G>A (p.Ala310Thr) single nucleotide variant not provided [RCV002998811] Chr8:144441049 [GRCh38]
Chr8:145666432 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.735C>T (p.Cys245=) single nucleotide variant not provided [RCV003079770] Chr8:144442256 [GRCh38]
Chr8:145667639 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.265-5C>T single nucleotide variant not provided [RCV002867879] Chr8:144443326 [GRCh38]
Chr8:145668709 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2245A>G (p.Ser749Gly) single nucleotide variant not provided [RCV002736162] Chr8:144436188 [GRCh38]
Chr8:145661571 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.695C>T (p.Ala232Val) single nucleotide variant Inborn genetic diseases [RCV003078497]|not provided [RCV003078498] Chr8:144442296 [GRCh38]
Chr8:145667679 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3735+4C>G single nucleotide variant not provided [RCV003019049] Chr8:144432281 [GRCh38]
Chr8:145657664 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.460C>A (p.Gln154Lys) single nucleotide variant Inborn genetic diseases [RCV002737044] Chr8:144442795 [GRCh38]
Chr8:145668178 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3676G>A (p.Val1226Met) single nucleotide variant not provided [RCV002636997] Chr8:144432344 [GRCh38]
Chr8:145657727 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2376C>G (p.Tyr792Ter) single nucleotide variant not provided [RCV002847361] Chr8:144436057 [GRCh38]
Chr8:145661440 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.1891-7C>A single nucleotide variant not provided [RCV002735067] Chr8:144436688 [GRCh38]
Chr8:145662071 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1716C>T (p.Tyr572=) single nucleotide variant not provided [RCV002795560] Chr8:144437037 [GRCh38]
Chr8:145662420 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2892G>A (p.Ala964=) single nucleotide variant not provided [RCV002948528] Chr8:144435131 [GRCh38]
Chr8:145660514 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1072C>T (p.Leu358=) single nucleotide variant not provided [RCV002735385] Chr8:144440810 [GRCh38]
Chr8:145666193 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.449-12G>A single nucleotide variant not provided [RCV003021136] Chr8:144442818 [GRCh38]
Chr8:145668201 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1859G>A (p.Arg620Gln) single nucleotide variant not provided [RCV002705749] Chr8:144436788 [GRCh38]
Chr8:145662171 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1815C>T (p.Ala605=) single nucleotide variant not provided [RCV002760831] Chr8:144436832 [GRCh38]
Chr8:145662215 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3387+15A>T single nucleotide variant not provided [RCV002695430] Chr8:144433963 [GRCh38]
Chr8:145659346 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3242G>A (p.Arg1081Gln) single nucleotide variant not provided [RCV003080744] Chr8:144434123 [GRCh38]
Chr8:145659506 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.804C>T (p.Ala268=) single nucleotide variant not provided [RCV002638930] Chr8:144442098 [GRCh38]
Chr8:145667481 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2641C>T (p.Leu881=) single nucleotide variant not provided [RCV003038374] Chr8:144435792 [GRCh38]
Chr8:145661175 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1104C>T (p.His368=) single nucleotide variant not provided [RCV002639392] Chr8:144440778 [GRCh38]
Chr8:145666161 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3279C>G (p.Ala1093=) single nucleotide variant not provided [RCV002848061] Chr8:144434086 [GRCh38]
Chr8:145659469 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1564-8G>T single nucleotide variant not provided [RCV002695666] Chr8:144438568 [GRCh38]
Chr8:145663951 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1486G>A (p.Asp496Asn) single nucleotide variant not provided [RCV002622576] Chr8:144438730 [GRCh38]
Chr8:145664113 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3179C>T (p.Thr1060Ile) single nucleotide variant not provided [RCV002886317] Chr8:144434186 [GRCh38]
Chr8:145659569 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.641G>T (p.Arg214Leu) single nucleotide variant not provided [RCV002621013] Chr8:144442350 [GRCh38]
Chr8:145667733 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4082G>T (p.Gly1361Val) single nucleotide variant not provided [RCV002662337] Chr8:144429198 [GRCh38]
Chr8:145654581 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2279C>T (p.Pro760Leu) single nucleotide variant not provided [RCV002695551] Chr8:144436154 [GRCh38]
Chr8:145661537 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1210G>A (p.Gly404Ser) single nucleotide variant not provided [RCV002621279] Chr8:144440431 [GRCh38]
Chr8:145665814 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4021A>G (p.Ser1341Gly) single nucleotide variant not provided [RCV003020533] Chr8:144429259 [GRCh38]
Chr8:145654642 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2852+13C>T single nucleotide variant not provided [RCV002695223] Chr8:144435461 [GRCh38]
Chr8:145660844 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2163G>A (p.Gly721=) single nucleotide variant not provided [RCV002619872] Chr8:144436270 [GRCh38]
Chr8:145661653 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.866-3C>T single nucleotide variant not provided [RCV002571707] Chr8:144441114 [GRCh38]
Chr8:145666497 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1936C>G (p.Arg646Gly) single nucleotide variant not provided [RCV003038336] Chr8:144436636 [GRCh38]
Chr8:145662019 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.562A>G (p.Ser188Gly) single nucleotide variant not provided [RCV002706652] Chr8:144442693 [GRCh38]
Chr8:145668076 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.30G>A (p.Leu10=) single nucleotide variant not provided [RCV002636770] Chr8:144444271 [GRCh38]
Chr8:145669654 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3548G>A (p.Ser1183Asn) single nucleotide variant not provided [RCV002952366] Chr8:144433599 [GRCh38]
Chr8:145658982 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.654C>G (p.His218Gln) single nucleotide variant Inborn genetic diseases [RCV002910518] Chr8:144442337 [GRCh38]
Chr8:145667720 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.437del (p.Glu146fs) deletion not provided [RCV002889227] Chr8:144443149 [GRCh38]
Chr8:145668532 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.2139G>T (p.Gln713His) single nucleotide variant not provided [RCV002866874] Chr8:144436294 [GRCh38]
Chr8:145661677 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.53A>G (p.Gln18Arg) single nucleotide variant not provided [RCV002571077] Chr8:144444248 [GRCh38]
Chr8:145669631 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3377C>G (p.Ala1126Gly) single nucleotide variant Inborn genetic diseases [RCV002761787] Chr8:144433988 [GRCh38]
Chr8:145659371 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2252G>T (p.Gly751Val) single nucleotide variant not provided [RCV003054435] Chr8:144436181 [GRCh38]
Chr8:145661564 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2434C>T (p.Arg812Trp) single nucleotide variant not provided [RCV002690674] Chr8:144435999 [GRCh38]
Chr8:145661382 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1481-9C>G single nucleotide variant not provided [RCV002853433] Chr8:144438744 [GRCh38]
Chr8:145664127 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.18G>A (p.Glu6=) single nucleotide variant not provided [RCV002853458] Chr8:144444397 [GRCh38]
Chr8:145669780 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1852C>G (p.Leu618Val) single nucleotide variant not provided [RCV002667053] Chr8:144436795 [GRCh38]
Chr8:145662178 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.449-11del deletion not provided [RCV002594263] Chr8:144442817 [GRCh38]
Chr8:145668200 [GRCh37]
Chr8:8q24.3		 benign
NM_013432.5(TONSL):c.24C>T (p.Arg8=) single nucleotide variant not provided [RCV002791452] Chr8:144444391 [GRCh38]
Chr8:145669774 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1022C>G (p.Ala341Gly) single nucleotide variant not provided [RCV002645773] Chr8:144440860 [GRCh38]
Chr8:145666243 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1701C>T (p.His567=) single nucleotide variant not provided [RCV002875757] Chr8:144437052 [GRCh38]
Chr8:145662435 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.292C>T (p.His98Tyr) single nucleotide variant not provided [RCV003005880] Chr8:144443294 [GRCh38]
Chr8:145668677 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3387G>A (p.Gln1129=) single nucleotide variant not provided [RCV002711403] Chr8:144433978 [GRCh38]
Chr8:145659361 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1110G>A (p.Gly370=) single nucleotide variant not provided [RCV002918491] Chr8:144440772 [GRCh38]
Chr8:145666155 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.601C>G (p.Leu201Val) single nucleotide variant Inborn genetic diseases [RCV004066955]|not provided [RCV002700868] Chr8:144442390 [GRCh38]
Chr8:145667773 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2040C>T (p.His680=) single nucleotide variant not provided [RCV002745707] Chr8:144436393 [GRCh38]
Chr8:145661776 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2874C>G (p.Ala958=) single nucleotide variant not provided [RCV003040133] Chr8:144435149 [GRCh38]
Chr8:145660532 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.264+9G>T single nucleotide variant not provided [RCV002741455] Chr8:144443873 [GRCh38]
Chr8:145669256 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.7C>G (p.Leu3Val) single nucleotide variant Inborn genetic diseases [RCV003274060]|not provided [RCV002876834] Chr8:144444408 [GRCh38]
Chr8:145669791 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1290+5G>A single nucleotide variant not provided [RCV002627365] Chr8:144440346 [GRCh38]
Chr8:145665729 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.302G>A (p.Arg101His) single nucleotide variant not provided [RCV002595908] Chr8:144443284 [GRCh38]
Chr8:145668667 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.176G>T (p.Arg59Leu) single nucleotide variant not provided [RCV002666805] Chr8:144443970 [GRCh38]
Chr8:145669353 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2374_2375insG (p.Tyr792Ter) insertion not provided [RCV003024785] Chr8:144436058..144436059 [GRCh38]
Chr8:145661441..145661442 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.290C>T (p.Ala97Val) single nucleotide variant not provided [RCV002766631] Chr8:144443296 [GRCh38]
Chr8:145668679 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2853-20C>T single nucleotide variant not provided [RCV002701216] Chr8:144435190 [GRCh38]
Chr8:145660573 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2852+13C>G single nucleotide variant not provided [RCV002741594] Chr8:144435461 [GRCh38]
Chr8:145660844 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1521C>T (p.Asp507=) single nucleotide variant not provided [RCV002928303] Chr8:144438695 [GRCh38]
Chr8:145664078 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.339C>T (p.Ile113=) single nucleotide variant not provided [RCV002800848] Chr8:144443247 [GRCh38]
Chr8:145668630 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3006+15G>A single nucleotide variant not provided [RCV002572984] Chr8:144435002 [GRCh38]
Chr8:145660385 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3559+4A>G single nucleotide variant not provided [RCV002573719] Chr8:144433584 [GRCh38]
Chr8:145658967 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3086-15A>G single nucleotide variant not provided [RCV002574301] Chr8:144434294 [GRCh38]
Chr8:145659677 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2455_2456insA (p.Ala819fs) insertion not provided [RCV003058039] Chr8:144435977..144435978 [GRCh38]
Chr8:145661360..145661361 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.99G>C (p.Leu33=) single nucleotide variant not provided [RCV002828993] Chr8:144444202 [GRCh38]
Chr8:145669585 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3736-12G>C single nucleotide variant not provided [RCV002852522] Chr8:144431163 [GRCh38]
Chr8:145656546 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.713G>A (p.Arg238Gln) single nucleotide variant not provided [RCV002623482] Chr8:144442278 [GRCh38]
Chr8:145667661 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1670C>G (p.Pro557Arg) single nucleotide variant not provided [RCV002982134] Chr8:144437083 [GRCh38]
Chr8:145662466 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3736-18G>T single nucleotide variant not provided [RCV002872558] Chr8:144431169 [GRCh38]
Chr8:145656552 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2394T>C (p.Gly798=) single nucleotide variant not provided [RCV002624812] Chr8:144436039 [GRCh38]
Chr8:145661422 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.866-19A>G single nucleotide variant not provided [RCV002574059]|not specified [RCV004700774] Chr8:144441130 [GRCh38]
Chr8:145666513 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_013432.5(TONSL):c.170G>A (p.Arg57Gln) single nucleotide variant not provided [RCV003004977] Chr8:144443976 [GRCh38]
Chr8:145669359 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2830T>G (p.Phe944Val) single nucleotide variant Inborn genetic diseases [RCV002827887] Chr8:144435496 [GRCh38]
Chr8:145660879 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1368A>T (p.Leu456=) single nucleotide variant not provided [RCV003006427] Chr8:144440133 [GRCh38]
Chr8:145665516 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1885C>T (p.Arg629Ter) single nucleotide variant not provided [RCV002663204] Chr8:144436762 [GRCh38]
Chr8:145662145 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.1036A>C (p.Arg346=) single nucleotide variant not provided [RCV003024244] Chr8:144440846 [GRCh38]
Chr8:145666229 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1157T>G (p.Val386Gly) single nucleotide variant Inborn genetic diseases [RCV002826880] Chr8:144440725 [GRCh38]
Chr8:145666108 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1518G>A (p.Glu506=) single nucleotide variant not provided [RCV002891159] Chr8:144438698 [GRCh38]
Chr8:145664081 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2734T>C (p.Ser912Pro) single nucleotide variant not provided [RCV002643757] Chr8:144435699 [GRCh38]
Chr8:145661082 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2356A>G (p.Ser786Gly) single nucleotide variant not provided [RCV002928250] Chr8:144436077 [GRCh38]
Chr8:145661460 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.114C>T (p.Ala38=) single nucleotide variant not provided [RCV002594238] Chr8:144444187 [GRCh38]
Chr8:145669570 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.608G>A (p.Arg203His) single nucleotide variant not provided [RCV002741544] Chr8:144442383 [GRCh38]
Chr8:145667766 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1713C>T (p.Asn571=) single nucleotide variant not provided [RCV002929026] Chr8:144437040 [GRCh38]
Chr8:145662423 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2468C>T (p.Ala823Val) single nucleotide variant not provided [RCV002593813] Chr8:144435965 [GRCh38]
Chr8:145661348 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3124G>A (p.Gly1042Ser) single nucleotide variant not provided [RCV002741366] Chr8:144434241 [GRCh38]
Chr8:145659624 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2776-17C>T single nucleotide variant not provided [RCV003023974] Chr8:144435567 [GRCh38]
Chr8:145660950 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2531G>A (p.Arg844His) single nucleotide variant TONSL-related disorder [RCV003926549]|not provided [RCV002914658] Chr8:144435902 [GRCh38]
Chr8:145661285 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.219C>T (p.Ile73=) single nucleotide variant not provided [RCV002872489] Chr8:144443927 [GRCh38]
Chr8:145669310 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2298A>T (p.Ala766=) single nucleotide variant not provided [RCV002711961] Chr8:144436135 [GRCh38]
Chr8:145661518 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.824A>G (p.Lys275Arg) single nucleotide variant not provided [RCV003056215] Chr8:144442078 [GRCh38]
Chr8:145667461 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1374G>A (p.Glu458=) single nucleotide variant not provided [RCV002574274] Chr8:144440127 [GRCh38]
Chr8:145665510 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.442C>T (p.Leu148=) single nucleotide variant not provided [RCV003005882] Chr8:144443144 [GRCh38]
Chr8:145668527 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.30G>C (p.Leu10=) single nucleotide variant not provided [RCV003024773] Chr8:144444271 [GRCh38]
Chr8:145669654 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2521C>T (p.Pro841Ser) single nucleotide variant not provided [RCV003008065] Chr8:144435912 [GRCh38]
Chr8:145661295 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1348C>T (p.Pro450Ser) single nucleotide variant not provided [RCV002741471] Chr8:144440153 [GRCh38]
Chr8:145665536 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2537G>A (p.Arg846His) single nucleotide variant Inborn genetic diseases [RCV002743136] Chr8:144435896 [GRCh38]
Chr8:145661279 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4119C>G (p.Leu1373=) single nucleotide variant not provided [RCV002919056] Chr8:144429161 [GRCh38]
Chr8:145654544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.175C>G (p.Arg59Gly) single nucleotide variant not provided [RCV002765423] Chr8:144443971 [GRCh38]
Chr8:145669354 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.186C>T (p.Asp62=) single nucleotide variant not provided [RCV002985345] Chr8:144443960 [GRCh38]
Chr8:145669343 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3086-10C>T single nucleotide variant not provided [RCV002830199] Chr8:144434289 [GRCh38]
Chr8:145659672 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1213G>A (p.Asp405Asn) single nucleotide variant not provided [RCV002954151] Chr8:144440428 [GRCh38]
Chr8:145665811 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3560-15C>G single nucleotide variant not provided [RCV003007655] Chr8:144432475 [GRCh38]
Chr8:145657858 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.16G>A (p.Glu6Lys) single nucleotide variant not provided [RCV003043266] Chr8:144444399 [GRCh38]
Chr8:145669782 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1891-10T>G single nucleotide variant not provided [RCV002626974] Chr8:144436691 [GRCh38]
Chr8:145662074 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.25+12G>C single nucleotide variant not provided [RCV003056115] Chr8:144444378 [GRCh38]
Chr8:145669761 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.529C>T (p.Gln177Ter) single nucleotide variant TONSL-related disorder [RCV003395566]|not provided [RCV003024372] Chr8:144442726 [GRCh38]
Chr8:145668109 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic
NM_013432.5(TONSL):c.3559+10C>T single nucleotide variant not provided [RCV003085037] Chr8:144433578 [GRCh38]
Chr8:145658961 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1758C>T (p.Ala586=) single nucleotide variant not provided [RCV003042765] Chr8:144436889 [GRCh38]
Chr8:145662272 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1111del (p.Ala371fs) deletion not provided [RCV003039804] Chr8:144440771 [GRCh38]
Chr8:145666154 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.13C>T (p.Arg5Cys) single nucleotide variant not provided [RCV003059170] Chr8:144444402 [GRCh38]
Chr8:145669785 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3152C>T (p.Ser1051Phe) single nucleotide variant not provided [RCV002954036] Chr8:144434213 [GRCh38]
Chr8:145659596 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1726+8A>G single nucleotide variant not provided [RCV002667283] Chr8:144437019 [GRCh38]
Chr8:145662402 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3007-12G>A single nucleotide variant not provided [RCV002642706] Chr8:144434901 [GRCh38]
Chr8:145660284 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3219G>C (p.Arg1073=) single nucleotide variant not provided [RCV002786455] Chr8:144434146 [GRCh38]
Chr8:145659529 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3404A>G (p.Asp1135Gly) single nucleotide variant not provided [RCV003006238] Chr8:144433743 [GRCh38]
Chr8:145659126 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2922G>A (p.Leu974=) single nucleotide variant not provided [RCV002957889] Chr8:144435101 [GRCh38]
Chr8:145660484 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.865+17G>C single nucleotide variant not provided [RCV002575651] Chr8:144442020 [GRCh38]
Chr8:145667403 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.235G>A (p.Glu79Lys) single nucleotide variant Inborn genetic diseases [RCV003167600]|not provided [RCV002667185] Chr8:144443911 [GRCh38]
Chr8:145669294 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1862G>A (p.Gly621Glu) single nucleotide variant not provided [RCV002929164] Chr8:144436785 [GRCh38]
Chr8:145662168 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2133C>G (p.Ala711=) single nucleotide variant not provided [RCV002745468] Chr8:144436300 [GRCh38]
Chr8:145661683 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3603G>A (p.Leu1201=) single nucleotide variant not provided [RCV002643291] Chr8:144432417 [GRCh38]
Chr8:145657800 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1890+18G>A single nucleotide variant not provided [RCV003041630] Chr8:144436739 [GRCh38]
Chr8:145662122 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2067C>T (p.Pro689=) single nucleotide variant not provided [RCV002741946] Chr8:144436366 [GRCh38]
Chr8:145661749 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.934G>T (p.Val312Phe) single nucleotide variant not provided [RCV002953861] Chr8:144441043 [GRCh38]
Chr8:145666426 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3691G>A (p.Gly1231Ser) single nucleotide variant not provided [RCV002786700] Chr8:144432329 [GRCh38]
Chr8:145657712 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1947G>A (p.Leu649=) single nucleotide variant not provided [RCV002626255] Chr8:144436625 [GRCh38]
Chr8:145662008 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2041A>T (p.Thr681Ser) single nucleotide variant not provided [RCV002918760] Chr8:144436392 [GRCh38]
Chr8:145661775 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2613G>T (p.Arg871Ser) single nucleotide variant not provided [RCV003049205] Chr8:144435820 [GRCh38]
Chr8:145661203 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2464G>T (p.Ala822Ser) single nucleotide variant not provided [RCV003049206] Chr8:144435969 [GRCh38]
Chr8:145661352 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV002806123] Chr8:144440986 [GRCh38]
Chr8:145666369 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1115T>C (p.Val372Ala) single nucleotide variant not provided [RCV002676457] Chr8:144440767 [GRCh38]
Chr8:145666150 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.449-19T>C single nucleotide variant not provided [RCV002649992] Chr8:144442825 [GRCh38]
Chr8:145668208 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.420C>T (p.Ser140=) single nucleotide variant not provided [RCV003031859] Chr8:144443166 [GRCh38]
Chr8:145668549 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1165-17C>G single nucleotide variant not provided [RCV002646050] Chr8:144440493 [GRCh38]
Chr8:145665876 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1124A>C (p.Tyr375Ser) single nucleotide variant not provided [RCV002716841] Chr8:144440758 [GRCh38]
Chr8:145666141 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3417C>T (p.Asn1139=) single nucleotide variant not provided [RCV003087335] Chr8:144433730 [GRCh38]
Chr8:145659113 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2260C>T (p.Arg754Trp) single nucleotide variant not provided [RCV002721290] Chr8:144436173 [GRCh38]
Chr8:145661556 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2022C>T (p.His674=) single nucleotide variant not provided [RCV002628734] Chr8:144436411 [GRCh38]
Chr8:145661794 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2721C>T (p.Ser907=) single nucleotide variant not provided [RCV003046516] Chr8:144435712 [GRCh38]
Chr8:145661095 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2592del (p.Ser865fs) deletion not provided [RCV003063892] Chr8:144435841 [GRCh38]
Chr8:145661224 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.1726+5G>A single nucleotide variant not provided [RCV003065669] Chr8:144437022 [GRCh38]
Chr8:145662405 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3026C>T (p.Ser1009Leu) single nucleotide variant not provided [RCV003092165] Chr8:144434870 [GRCh38]
Chr8:145660253 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2289G>A (p.Ser763=) single nucleotide variant not provided [RCV002650299] Chr8:144436144 [GRCh38]
Chr8:145661527 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.382G>A (p.Asp128Asn) single nucleotide variant not provided [RCV003048687] Chr8:144443204 [GRCh38]
Chr8:145668587 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1549C>T (p.Arg517Trp) single nucleotide variant not provided [RCV002581780] Chr8:144438667 [GRCh38]
Chr8:145664050 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.490C>G (p.Leu164Val) single nucleotide variant not provided [RCV002791649] Chr8:144442765 [GRCh38]
Chr8:145668148 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1653+6C>T single nucleotide variant not provided [RCV002720772] Chr8:144438465 [GRCh38]
Chr8:145663848 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3387+10_3387+11del microsatellite not provided [RCV002988621] Chr8:144433967..144433968 [GRCh38]
Chr8:145659350..145659351 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1693C>T (p.Pro565Ser) single nucleotide variant Inborn genetic diseases [RCV004681578]|not provided [RCV002966865] Chr8:144437060 [GRCh38]
Chr8:145662443 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.448+13C>G single nucleotide variant not provided [RCV002646402] Chr8:144443125 [GRCh38]
Chr8:145668508 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2249C>T (p.Ala750Val) single nucleotide variant not provided [RCV002833498] Chr8:144436184 [GRCh38]
Chr8:145661567 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.751-10T>G single nucleotide variant not provided [RCV003030373] Chr8:144442161 [GRCh38]
Chr8:145667544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2461dup (p.Gln821fs) duplication not provided [RCV002856129] Chr8:144435971..144435972 [GRCh38]
Chr8:145661354..145661355 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.3042G>C (p.Pro1014=) single nucleotide variant not provided [RCV003011241] Chr8:144434854 [GRCh38]
Chr8:145660237 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2174C>T (p.Pro725Leu) single nucleotide variant not provided [RCV003044553] Chr8:144436259 [GRCh38]
Chr8:145661642 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.944A>G (p.Glu315Gly) single nucleotide variant Inborn genetic diseases [RCV002920380] Chr8:144441033 [GRCh38]
Chr8:145666416 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2015-18G>C single nucleotide variant not provided [RCV002715566] Chr8:144436436 [GRCh38]
Chr8:145661819 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1820A>G (p.Asn607Ser) single nucleotide variant not provided [RCV002806056] Chr8:144436827 [GRCh38]
Chr8:145662210 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1946T>C (p.Leu649Pro) single nucleotide variant not provided [RCV002647071] Chr8:144436626 [GRCh38]
Chr8:145662009 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1546C>T (p.Arg516Trp) single nucleotide variant not provided [RCV002598236] Chr8:144438670 [GRCh38]
Chr8:145664053 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.26-18C>A single nucleotide variant not provided [RCV002832907] Chr8:144444293 [GRCh38]
Chr8:145669676 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3283G>A (p.Gly1095Ser) single nucleotide variant Inborn genetic diseases [RCV002897813] Chr8:144434082 [GRCh38]
Chr8:145659465 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3798A>G (p.Arg1266=) single nucleotide variant not provided [RCV002810348] Chr8:144431089 [GRCh38]
Chr8:145656472 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2748G>A (p.Gly916=) single nucleotide variant not provided [RCV002746099] Chr8:144435685 [GRCh38]
Chr8:145661068 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3387+1G>A single nucleotide variant not provided [RCV002792015] Chr8:144433977 [GRCh38]
Chr8:145659360 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.311C>T (p.Thr104Met) single nucleotide variant not provided [RCV002717081] Chr8:144443275 [GRCh38]
Chr8:145668658 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1884T>A (p.Thr628=) single nucleotide variant not provided [RCV003046760] Chr8:144436763 [GRCh38]
Chr8:145662146 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3388-20C>T single nucleotide variant not provided [RCV003043946] Chr8:144433779 [GRCh38]
Chr8:145659162 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.53A>C (p.Gln18Pro) single nucleotide variant not provided [RCV003044189] Chr8:144444248 [GRCh38]
Chr8:145669631 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2721del (p.Ser907fs) deletion not provided [RCV002832996] Chr8:144435712 [GRCh38]
Chr8:145661095 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.757C>G (p.Gln253Glu) single nucleotide variant Inborn genetic diseases [RCV004065738]|not provided [RCV002630518] Chr8:144442145 [GRCh38]
Chr8:145667528 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.586C>T (p.His196Tyr) single nucleotide variant Inborn genetic diseases [RCV002808683] Chr8:144442405 [GRCh38]
Chr8:145667788 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1011+12C>T single nucleotide variant not provided [RCV002645900] Chr8:144440954 [GRCh38]
Chr8:145666337 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1727-9G>A single nucleotide variant not provided [RCV003087558] Chr8:144436929 [GRCh38]
Chr8:145662312 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.258C>T (p.Ala86=) single nucleotide variant not provided [RCV003026579] Chr8:144443888 [GRCh38]
Chr8:145669271 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.578+16G>C single nucleotide variant not provided [RCV002601961] Chr8:144442661 [GRCh38]
Chr8:145668044 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3616C>G (p.Leu1206Val) single nucleotide variant not provided [RCV003048486] Chr8:144432404 [GRCh38]
Chr8:145657787 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3820_3821del (p.Leu1274fs) microsatellite not provided [RCV003010213] Chr8:144430526..144430527 [GRCh38]
Chr8:145655909..145655910 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.699C>T (p.His233=) single nucleotide variant not provided [RCV003031056] Chr8:144442292 [GRCh38]
Chr8:145667675 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.751-8del deletion not provided [RCV003030372] Chr8:144442159 [GRCh38]
Chr8:145667542 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2176G>A (p.Ala726Thr) single nucleotide variant not provided [RCV002597773] Chr8:144436257 [GRCh38]
Chr8:145661640 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3193G>T (p.Ala1065Ser) single nucleotide variant not provided [RCV002714908] Chr8:144434172 [GRCh38]
Chr8:145659555 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3560A>G (p.Asp1187Gly) single nucleotide variant not provided [RCV002833497] Chr8:144432460 [GRCh38]
Chr8:145657843 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1165-17C>T single nucleotide variant not provided [RCV002856488] Chr8:144440493 [GRCh38]
Chr8:145665876 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1164+19G>A single nucleotide variant not provided [RCV002581175] Chr8:144440699 [GRCh38]
Chr8:145666082 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1370G>A (p.Arg457Gln) single nucleotide variant Inborn genetic diseases [RCV004070571]|not provided [RCV002628303] Chr8:144440131 [GRCh38]
Chr8:145665514 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.3608C>A (p.Ala1203Asp) single nucleotide variant not provided [RCV002650209] Chr8:144432412 [GRCh38]
Chr8:145657795 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1170C>T (p.Ala390=) single nucleotide variant not provided [RCV002792076] Chr8:144440471 [GRCh38]
Chr8:145665854 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2608A>G (p.Ser870Gly) single nucleotide variant not provided [RCV003030204] Chr8:144435825 [GRCh38]
Chr8:145661208 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.750+18C>T single nucleotide variant not provided [RCV002856836] Chr8:144442223 [GRCh38]
Chr8:145667606 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3006+19G>C single nucleotide variant not provided [RCV002630568] Chr8:144434998 [GRCh38]
Chr8:145660381 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3634A>G (p.Ser1212Gly) single nucleotide variant not provided [RCV002631052] Chr8:144432386 [GRCh38]
Chr8:145657769 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.25+1G>C single nucleotide variant not provided [RCV002877072] Chr8:144444389 [GRCh38]
Chr8:145669772 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.121+10G>A single nucleotide variant not provided [RCV003009892] Chr8:144444170 [GRCh38]
Chr8:145669553 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2437G>A (p.Gly813Ser) single nucleotide variant not provided [RCV002922371] Chr8:144435996 [GRCh38]
Chr8:145661379 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1441G>C (p.Glu481Gln) single nucleotide variant not provided [RCV002810921] Chr8:144440060 [GRCh38]
Chr8:145665443 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.16G>C (p.Glu6Gln) single nucleotide variant Inborn genetic diseases [RCV002808560] Chr8:144444399 [GRCh38]
Chr8:145669782 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3204G>A (p.Leu1068=) single nucleotide variant not provided [RCV002899445] Chr8:144434161 [GRCh38]
Chr8:145659544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1834G>A (p.Glu612Lys) single nucleotide variant not provided [RCV002630907] Chr8:144436813 [GRCh38]
Chr8:145662196 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1231G>A (p.Ala411Thr) single nucleotide variant not provided [RCV002627398] Chr8:144440410 [GRCh38]
Chr8:145665793 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1135C>A (p.Leu379Met) single nucleotide variant not provided [RCV003028434] Chr8:144440747 [GRCh38]
Chr8:145666130 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1200C>A (p.Arg400=) single nucleotide variant not provided [RCV002599992] Chr8:144440441 [GRCh38]
Chr8:145665824 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3277G>T (p.Ala1093Ser) single nucleotide variant not provided [RCV002581647] Chr8:144434088 [GRCh38]
Chr8:145659471 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1997C>A (p.Ala666Glu) single nucleotide variant Inborn genetic diseases [RCV003375677]|not provided [RCV002716096] Chr8:144436575 [GRCh38]
Chr8:145661958 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3944-8C>T single nucleotide variant not provided [RCV003049957] Chr8:144429344 [GRCh38]
Chr8:145654727 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2776-3C>G single nucleotide variant not provided [RCV002814895] Chr8:144435553 [GRCh38]
Chr8:145660936 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2786C>T (p.Pro929Leu) single nucleotide variant not provided [RCV002584462] Chr8:144435540 [GRCh38]
Chr8:145660923 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3086-4G>A single nucleotide variant not provided [RCV003069088] Chr8:144434283 [GRCh38]
Chr8:145659666 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.403G>C (p.Ala135Pro) single nucleotide variant Inborn genetic diseases [RCV002656527] Chr8:144443183 [GRCh38]
Chr8:145668566 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3590C>G (p.Ser1197Cys) single nucleotide variant not provided [RCV002721656] Chr8:144432430 [GRCh38]
Chr8:145657813 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3006+8G>A single nucleotide variant not provided [RCV002604410] Chr8:144435009 [GRCh38]
Chr8:145660392 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.656C>G (p.Ser219Cys) single nucleotide variant not provided [RCV002658096] Chr8:144442335 [GRCh38]
Chr8:145667718 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.67C>A (p.Arg23=) single nucleotide variant not provided [RCV002944223] Chr8:144444234 [GRCh38]
Chr8:145669617 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2456C>G (p.Ala819Gly) single nucleotide variant not provided [RCV002605416] Chr8:144435977 [GRCh38]
Chr8:145661360 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2070G>T (p.Glu690Asp) single nucleotide variant not provided [RCV002635685] Chr8:144436363 [GRCh38]
Chr8:145661746 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1564-4A>G single nucleotide variant not provided [RCV003068363] Chr8:144438564 [GRCh38]
Chr8:145663947 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.448+16C>G single nucleotide variant not provided [RCV002635060] Chr8:144443122 [GRCh38]
Chr8:145668505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV003052161] Chr8:144443953 [GRCh38]
Chr8:145669336 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1691C>T (p.Thr564Ile) single nucleotide variant not provided [RCV002582512] Chr8:144437062 [GRCh38]
Chr8:145662445 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4127G>C (p.Arg1376Pro) single nucleotide variant not provided [RCV002606368] Chr8:144429153 [GRCh38]
Chr8:145654536 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.38C>T (p.Ala13Val) single nucleotide variant not provided [RCV002722134] Chr8:144444263 [GRCh38]
Chr8:145669646 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1630C>T (p.Arg544Cys) single nucleotide variant not provided [RCV003068306] Chr8:144438494 [GRCh38]
Chr8:145663877 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2434C>A (p.Arg812=) single nucleotide variant not provided [RCV002608377] Chr8:144435999 [GRCh38]
Chr8:145661382 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1842T>C (p.Ala614=) single nucleotide variant not provided [RCV002583105] Chr8:144436805 [GRCh38]
Chr8:145662188 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.403G>A (p.Ala135Thr) single nucleotide variant not provided [RCV002815029] Chr8:144443183 [GRCh38]
Chr8:145668566 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3810-14C>G single nucleotide variant not provided [RCV003050447] Chr8:144430551 [GRCh38]
Chr8:145655934 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3560-3C>T single nucleotide variant not provided [RCV002609781] Chr8:144432463 [GRCh38]
Chr8:145657846 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3006+14C>T single nucleotide variant not provided [RCV002604003] Chr8:144435003 [GRCh38]
Chr8:145660386 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3559+11C>T single nucleotide variant not provided [RCV002589615] Chr8:144433577 [GRCh38]
Chr8:145658960 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1409A>C (p.Glu470Ala) single nucleotide variant not provided [RCV002587027] Chr8:144440092 [GRCh38]
Chr8:145665475 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3559+14G>A single nucleotide variant not provided [RCV002589800] Chr8:144433574 [GRCh38]
Chr8:145658957 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1480+18C>T single nucleotide variant not provided [RCV002587102] Chr8:144440003 [GRCh38]
Chr8:145665386 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2701G>A (p.Glu901Lys) single nucleotide variant not provided [RCV002608776] Chr8:144435732 [GRCh38]
Chr8:145661115 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3684C>T (p.Ala1228=) single nucleotide variant not provided [RCV002607921] Chr8:144432336 [GRCh38]
Chr8:145657719 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2472C>A (p.Leu824=) single nucleotide variant not provided [RCV002814700] Chr8:144435961 [GRCh38]
Chr8:145661344 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1356C>T (p.Thr452=) single nucleotide variant not provided [RCV002606089] Chr8:144440145 [GRCh38]
Chr8:145665528 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2518A>G (p.Met840Val) single nucleotide variant not provided [RCV002583389] Chr8:144435915 [GRCh38]
Chr8:145661298 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2392G>A (p.Gly798Ser) single nucleotide variant not provided [RCV002721495] Chr8:144436041 [GRCh38]
Chr8:145661424 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1165-10_1165-8del microsatellite not provided [RCV002604380] Chr8:144440484..144440486 [GRCh38]
Chr8:145665867..145665869 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3993C>T (p.Ala1331=) single nucleotide variant not provided [RCV002607312] Chr8:144429287 [GRCh38]
Chr8:145654670 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.815G>T (p.Gly272Val) single nucleotide variant not provided [RCV002653189] Chr8:144442087 [GRCh38]
Chr8:145667470 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2624G>A (p.Arg875Gln) single nucleotide variant not provided [RCV002607817] Chr8:144435809 [GRCh38]
Chr8:145661192 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.823A>T (p.Lys275Ter) single nucleotide variant not provided [RCV002589107] Chr8:144442079 [GRCh38]
Chr8:145667462 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.578+16G>A single nucleotide variant not provided [RCV002725286] Chr8:144442661 [GRCh38]
Chr8:145668044 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1563+10G>A single nucleotide variant not provided [RCV002604995] Chr8:144438643 [GRCh38]
Chr8:145664026 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1144C>T (p.Arg382Cys) single nucleotide variant not provided [RCV002589560] Chr8:144440738 [GRCh38]
Chr8:145666121 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.446A>G (p.Glu149Gly) single nucleotide variant not provided [RCV002725547] Chr8:144443140 [GRCh38]
Chr8:145668523 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2304G>A (p.Arg768=) single nucleotide variant not provided [RCV002585793] Chr8:144436129 [GRCh38]
Chr8:145661512 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.175C>T (p.Arg59Cys) single nucleotide variant not provided [RCV002612372] Chr8:144443971 [GRCh38]
Chr8:145669354 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2014+12G>A single nucleotide variant not provided [RCV002586142] Chr8:144436546 [GRCh38]
Chr8:145661929 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1209C>T (p.Ala403=) single nucleotide variant not provided [RCV002653930] Chr8:144440432 [GRCh38]
Chr8:145665815 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1456G>A (p.Gly486Ser) single nucleotide variant Inborn genetic diseases [RCV002610565]|not provided [RCV002610564] Chr8:144440045 [GRCh38]
Chr8:145665428 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_013432.5(TONSL):c.2986G>A (p.Val996Met) single nucleotide variant Inborn genetic diseases [RCV003215777] Chr8:144435037 [GRCh38]
Chr8:145660420 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1435del (p.Glu479fs) deletion Sponastrime dysplasia [RCV003226106] Chr8:144440066 [GRCh38]
Chr8:145665449 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.4073G>A (p.Ser1358Asn) single nucleotide variant Inborn genetic diseases [RCV003185834] Chr8:144429207 [GRCh38]
Chr8:145654590 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3590C>A (p.Ser1197Tyr) single nucleotide variant not provided [RCV003228248] Chr8:144432430 [GRCh38]
Chr8:145657813 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3611del (p.Pro1204fs) deletion not provided [RCV003319028] Chr8:144432409 [GRCh38]
Chr8:145657792 [GRCh37]
Chr8:8q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_013432.5(TONSL):c.1483G>A (p.Asp495Asn) single nucleotide variant Inborn genetic diseases [RCV003286455] Chr8:144438733 [GRCh38]
Chr8:145664116 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1850T>A (p.Leu617Gln) single nucleotide variant Inborn genetic diseases [RCV003356548] Chr8:144436797 [GRCh38]
Chr8:145662180 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.919C>G (p.Pro307Ala) single nucleotide variant Inborn genetic diseases [RCV003381103] Chr8:144441058 [GRCh38]
Chr8:145666441 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2952_2953delinsT (p.Ala985fs) indel Sponastrime dysplasia [RCV003334465] Chr8:144435070..144435071 [GRCh38]
Chr8:145660453..145660454 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.2102C>A (p.Pro701His) single nucleotide variant Inborn genetic diseases [RCV003364272] Chr8:144436331 [GRCh38]
Chr8:145661714 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3052C>A (p.Arg1018Ser) single nucleotide variant Inborn genetic diseases [RCV003373480] Chr8:144434844 [GRCh38]
Chr8:145660227 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1604G>A (p.Arg535Gln) single nucleotide variant Inborn genetic diseases [RCV003362127] Chr8:144438520 [GRCh38]
Chr8:145663903 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3629T>C (p.Leu1210Pro) single nucleotide variant Inborn genetic diseases [RCV003353281] Chr8:144432391 [GRCh38]
Chr8:145657774 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1043G>A (p.Gly348Asp) single nucleotide variant Inborn genetic diseases [RCV003352580] Chr8:144440839 [GRCh38]
Chr8:145666222 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1960C>T (p.Arg654Trp) single nucleotide variant Inborn genetic diseases [RCV003375819] Chr8:144436612 [GRCh38]
Chr8:145661995 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3814C>T (p.Leu1272Phe) single nucleotide variant Inborn genetic diseases [RCV003371634] Chr8:144430533 [GRCh38]
Chr8:145655916 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.448+17G>T single nucleotide variant not provided [RCV003875216] Chr8:144443121 [GRCh38]
Chr8:145668504 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.121+1G>A single nucleotide variant not provided [RCV003569633] Chr8:144444179 [GRCh38]
Chr8:145669562 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.25+1del deletion not provided [RCV003543740] Chr8:144444389 [GRCh38]
Chr8:145669772 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.448+10C>T single nucleotide variant not provided [RCV003712423] Chr8:144443128 [GRCh38]
Chr8:145668511 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.48G>A (p.Lys16=) single nucleotide variant not provided [RCV003873970] Chr8:144444253 [GRCh38]
Chr8:145669636 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.614G>A (p.Arg205His) single nucleotide variant not provided [RCV003874110] Chr8:144442377 [GRCh38]
Chr8:145667760 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.449-4C>T single nucleotide variant not provided [RCV003874224] Chr8:144442810 [GRCh38]
Chr8:145668193 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.659dup (p.Ala221fs) duplication TONSL-related disorder [RCV003397697] Chr8:144442331..144442332 [GRCh38]
Chr8:145667714..145667715 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3007-2A>C single nucleotide variant TONSL-related disorder [RCV003400416] Chr8:144434891 [GRCh38]
Chr8:145660274 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.2865C>T (p.His955=) single nucleotide variant not provided [RCV003827946] Chr8:144435158 [GRCh38]
Chr8:145660541 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3192G>A (p.Arg1064=) single nucleotide variant not provided [RCV003738650] Chr8:144434173 [GRCh38]
Chr8:145659556 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.750+17G>A single nucleotide variant not provided [RCV003544449] Chr8:144442224 [GRCh38]
Chr8:145667607 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1581C>T (p.Asp527=) single nucleotide variant not provided [RCV003693186] Chr8:144438543 [GRCh38]
Chr8:145663926 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1291-9G>A single nucleotide variant not provided [RCV003694560] Chr8:144440219 [GRCh38]
Chr8:145665602 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2478G>A (p.Pro826=) single nucleotide variant not provided [RCV003828336] Chr8:144435955 [GRCh38]
Chr8:145661338 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2853-17C>T single nucleotide variant not provided [RCV003831379] Chr8:144435187 [GRCh38]
Chr8:145660570 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1290+15C>G single nucleotide variant not provided [RCV003579262] Chr8:144440336 [GRCh38]
Chr8:145665719 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3183_3184del (p.Leu1062fs) deletion not provided [RCV003831619] Chr8:144434181..144434182 [GRCh38]
Chr8:145659564..145659565 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.2554G>A (p.Gly852Ser) single nucleotide variant not provided [RCV003545453] Chr8:144435879 [GRCh38]
Chr8:145661262 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.103dup (p.Glu35fs) duplication not provided [RCV003693725] Chr8:144444197..144444198 [GRCh38]
Chr8:145669580..145669581 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.2948_2949del (p.Glu983fs) microsatellite not provided [RCV003692523] Chr8:144435074..144435075 [GRCh38]
Chr8:145660457..145660458 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.1727-17C>T single nucleotide variant not provided [RCV003829900] Chr8:144436937 [GRCh38]
Chr8:145662320 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3470C>T (p.Pro1157Leu) single nucleotide variant not provided [RCV003572496] Chr8:144433677 [GRCh38]
Chr8:145659060 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3944-16C>T single nucleotide variant not provided [RCV003662921] Chr8:144429352 [GRCh38]
Chr8:145654735 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3007-20C>T single nucleotide variant not provided [RCV003712681] Chr8:144434909 [GRCh38]
Chr8:145660292 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.265-18A>T single nucleotide variant not provided [RCV003659894] Chr8:144443339 [GRCh38]
Chr8:145668722 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2472C>T (p.Leu824=) single nucleotide variant not provided [RCV003831189] Chr8:144435961 [GRCh38]
Chr8:145661344 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3810-11T>C single nucleotide variant not provided [RCV003825733] Chr8:144430548 [GRCh38]
Chr8:145655931 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.448+9A>G single nucleotide variant not provided [RCV003714191] Chr8:144443129 [GRCh38]
Chr8:145668512 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1290+3G>A single nucleotide variant not provided [RCV003696190] Chr8:144440348 [GRCh38]
Chr8:145665731 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3093C>T (p.His1031=) single nucleotide variant not provided [RCV003691723] Chr8:144434272 [GRCh38]
Chr8:145659655 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3944-10C>T single nucleotide variant not provided [RCV003828670] Chr8:144429346 [GRCh38]
Chr8:145654729 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1162G>T (p.Glu388Ter) single nucleotide variant not provided [RCV003694962] Chr8:144440720 [GRCh38]
Chr8:145666103 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.26-1G>T single nucleotide variant not provided [RCV003696014] Chr8:144444276 [GRCh38]
Chr8:145669659 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.3580C>T (p.Leu1194=) single nucleotide variant not provided [RCV003662659] Chr8:144432440 [GRCh38]
Chr8:145657823 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3669C>T (p.Leu1223=) single nucleotide variant not provided [RCV003688592] Chr8:144432351 [GRCh38]
Chr8:145657734 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.613C>T (p.Arg205Cys) single nucleotide variant not provided [RCV003716461] Chr8:144442378 [GRCh38]
Chr8:145667761 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3241C>T (p.Arg1081Trp) single nucleotide variant not provided [RCV003876923] Chr8:144434124 [GRCh38]
Chr8:145659507 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3229C>T (p.Leu1077=) single nucleotide variant not provided [RCV003691891] Chr8:144434136 [GRCh38]
Chr8:145659519 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3198C>T (p.Leu1066=) single nucleotide variant not provided [RCV003692778] Chr8:144434167 [GRCh38]
Chr8:145659550 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.690G>A (p.Glu230=) single nucleotide variant not provided [RCV003713698] Chr8:144442301 [GRCh38]
Chr8:145667684 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1653+18A>T single nucleotide variant not provided [RCV003688637] Chr8:144438453 [GRCh38]
Chr8:145663836 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3600C>G (p.Ala1200=) single nucleotide variant not provided [RCV003692572] Chr8:144432420 [GRCh38]
Chr8:145657803 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3560-11C>T single nucleotide variant not provided [RCV003827447] Chr8:144432471 [GRCh38]
Chr8:145657854 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2433G>T (p.Pro811=) single nucleotide variant not provided [RCV003661166] Chr8:144436000 [GRCh38]
Chr8:145661383 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3681A>G (p.Ala1227=) single nucleotide variant not provided [RCV003547718] Chr8:144432339 [GRCh38]
Chr8:145657722 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2364C>T (p.Ser788=) single nucleotide variant not provided [RCV003659538] Chr8:144436069 [GRCh38]
Chr8:145661452 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3280C>T (p.Leu1094=) single nucleotide variant not provided [RCV003664383] Chr8:144434085 [GRCh38]
Chr8:145659468 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3736-16C>T single nucleotide variant not provided [RCV003697839] Chr8:144431167 [GRCh38]
Chr8:145656550 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1481-15T>G single nucleotide variant not provided [RCV003852619] Chr8:144438750 [GRCh38]
Chr8:145664133 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2015-12T>C single nucleotide variant not provided [RCV003663742] Chr8:144436430 [GRCh38]
Chr8:145661813 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.923A>G (p.Gln308Arg) single nucleotide variant not provided [RCV003697004] Chr8:144441054 [GRCh38]
Chr8:145666437 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1872C>T (p.Val624=) single nucleotide variant not provided [RCV003659357] Chr8:144436775 [GRCh38]
Chr8:145662158 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2685C>G (p.Pro895=) single nucleotide variant not provided [RCV003851939] Chr8:144435748 [GRCh38]
Chr8:145661131 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1794C>T (p.Gly598=) single nucleotide variant not provided [RCV003698409] Chr8:144436853 [GRCh38]
Chr8:145662236 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.865+15_865+16delinsCT indel not provided [RCV003855550] Chr8:144442021..144442022 [GRCh38]
Chr8:145667404..145667405 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3662T>C (p.Leu1221Ser) single nucleotide variant not provided [RCV003668222] Chr8:144432358 [GRCh38]
Chr8:145657741 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.26-5C>T single nucleotide variant not provided [RCV003850083] Chr8:144444280 [GRCh38]
Chr8:145669663 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.578+15C>G single nucleotide variant not provided [RCV003840286] Chr8:144442662 [GRCh38]
Chr8:145668045 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3631C>T (p.Gln1211Ter) single nucleotide variant not provided [RCV003549254] Chr8:144432389 [GRCh38]
Chr8:145657772 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.609C>T (p.Arg203=) single nucleotide variant not provided [RCV003717366] Chr8:144442382 [GRCh38]
Chr8:145667765 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.449-16G>A single nucleotide variant not provided [RCV003836128] Chr8:144442822 [GRCh38]
Chr8:145668205 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3736-7T>C single nucleotide variant not provided [RCV003561502] Chr8:144431158 [GRCh38]
Chr8:145656541 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1291-11C>T single nucleotide variant not provided [RCV003838925] Chr8:144440221 [GRCh38]
Chr8:145665604 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3855C>T (p.Ala1285=) single nucleotide variant not provided [RCV003673307] Chr8:144430492 [GRCh38]
Chr8:145655875 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1165-19G>T single nucleotide variant not provided [RCV003839281] Chr8:144440495 [GRCh38]
Chr8:145665878 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2776-13C>T single nucleotide variant not provided [RCV003839318] Chr8:144435563 [GRCh38]
Chr8:145660946 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3549T>C (p.Ser1183=) single nucleotide variant not provided [RCV003700223] Chr8:144433598 [GRCh38]
Chr8:145658981 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.751-2A>C single nucleotide variant not provided [RCV003836784] Chr8:144442153 [GRCh38]
Chr8:145667536 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.1788C>T (p.Cys596=) single nucleotide variant not provided [RCV003673652] Chr8:144436859 [GRCh38]
Chr8:145662242 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1902G>T (p.Pro634=) single nucleotide variant not provided [RCV003668068] Chr8:144436670 [GRCh38]
Chr8:145662053 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2133C>A (p.Ala711=) single nucleotide variant not provided [RCV003700568] Chr8:144436300 [GRCh38]
Chr8:145661683 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3086-8_3086-5del microsatellite not provided [RCV003835503] Chr8:144434284..144434287 [GRCh38]
Chr8:145659667..145659670 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.865+17G>A single nucleotide variant not provided [RCV003835438] Chr8:144442020 [GRCh38]
Chr8:145667403 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1002C>T (p.Tyr334=) single nucleotide variant not provided [RCV003814100] Chr8:144440975 [GRCh38]
Chr8:145666358 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2358C>T (p.Ser786=) single nucleotide variant not provided [RCV003671684] Chr8:144436075 [GRCh38]
Chr8:145661458 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1182G>C (p.Leu394=) single nucleotide variant not provided [RCV003725399] Chr8:144440459 [GRCh38]
Chr8:145665842 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.786G>A (p.Lys262=) single nucleotide variant not provided [RCV003702423] Chr8:144442116 [GRCh38]
Chr8:145667499 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3861T>G (p.Pro1287=) single nucleotide variant not provided [RCV003717395] Chr8:144430486 [GRCh38]
Chr8:145655869 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3841C>T (p.Leu1281=) single nucleotide variant not provided [RCV003701124] Chr8:144430506 [GRCh38]
Chr8:145655889 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1197C>A (p.Ser399=) single nucleotide variant not provided [RCV003723736] Chr8:144440444 [GRCh38]
Chr8:145665827 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1041G>A (p.Pro347=) single nucleotide variant not provided [RCV003813840] Chr8:144440841 [GRCh38]
Chr8:145666224 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2355C>T (p.Ala785=) single nucleotide variant not provided [RCV003701314] Chr8:144436078 [GRCh38]
Chr8:145661461 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2862C>A (p.Thr954=) single nucleotide variant not provided [RCV003664233] Chr8:144435161 [GRCh38]
Chr8:145660544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1803C>T (p.Pro601=) single nucleotide variant not provided [RCV003854904] Chr8:144436844 [GRCh38]
Chr8:145662227 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.579-11C>T single nucleotide variant not provided [RCV003835889] Chr8:144442423 [GRCh38]
Chr8:145667806 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1890+12G>A single nucleotide variant not provided [RCV003672377] Chr8:144436745 [GRCh38]
Chr8:145662128 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3978G>A (p.Leu1326=) single nucleotide variant not provided [RCV003710106] Chr8:144429302 [GRCh38]
Chr8:145654685 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3560-10C>T single nucleotide variant not provided [RCV003846325] Chr8:144432470 [GRCh38]
Chr8:145657853 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3471C>G (p.Pro1157=) single nucleotide variant not provided [RCV003675911] Chr8:144433676 [GRCh38]
Chr8:145659059 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2154C>T (p.Val718=) single nucleotide variant not provided [RCV003674969] Chr8:144436279 [GRCh38]
Chr8:145661662 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3735+16_3735+18del microsatellite not provided [RCV003821227] Chr8:144432267..144432269 [GRCh38]
Chr8:145657650..145657652 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.736G>A (p.Val246Met) single nucleotide variant not provided [RCV003731087] Chr8:144442255 [GRCh38]
Chr8:145667638 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.119A>T (p.His40Leu) single nucleotide variant not provided [RCV003567967] Chr8:144444182 [GRCh38]
Chr8:145669565 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.854A>G (p.Asn285Ser) single nucleotide variant not provided [RCV003679546] Chr8:144442048 [GRCh38]
Chr8:145667431 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2112T>C (p.Asn704=) single nucleotide variant not provided [RCV003678767] Chr8:144436321 [GRCh38]
Chr8:145661704 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4089C>T (p.Gly1363=) single nucleotide variant not provided [RCV003705551] Chr8:144429191 [GRCh38]
Chr8:145654574 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3962C>T (p.Pro1321Leu) single nucleotide variant not provided [RCV003729575] Chr8:144429318 [GRCh38]
Chr8:145654701 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1062C>T (p.Ile354=) single nucleotide variant not provided [RCV003681246] Chr8:144440820 [GRCh38]
Chr8:145666203 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4136G>A (p.Ter1379=) single nucleotide variant not provided [RCV003679348] Chr8:144429144 [GRCh38]
Chr8:145654527 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3721C>T (p.Arg1241Ter) single nucleotide variant not provided [RCV003683092] Chr8:144432299 [GRCh38]
Chr8:145657682 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.449-15G>A single nucleotide variant not provided [RCV003818453] Chr8:144442821 [GRCh38]
Chr8:145668204 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4002C>T (p.Leu1334=) single nucleotide variant not provided [RCV003708129] Chr8:144429278 [GRCh38]
Chr8:145654661 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3051C>T (p.Asp1017=) single nucleotide variant not provided [RCV003567852] Chr8:144434845 [GRCh38]
Chr8:145660228 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3420C>T (p.Pro1140=) single nucleotide variant not provided [RCV003858965] Chr8:144433727 [GRCh38]
Chr8:145659110 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.865+15del deletion not provided [RCV003704671] Chr8:144442022 [GRCh38]
Chr8:145667405 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.948G>A (p.Gln316=) single nucleotide variant not provided [RCV003734402] Chr8:144441029 [GRCh38]
Chr8:145666412 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3039C>T (p.Pro1013=) single nucleotide variant not provided [RCV003872428] Chr8:144434857 [GRCh38]
Chr8:145660240 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.60C>T (p.Ala20=) single nucleotide variant not provided [RCV003852934] Chr8:144444241 [GRCh38]
Chr8:145669624 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.489C>T (p.Arg163=) single nucleotide variant not provided [RCV003711632] Chr8:144442766 [GRCh38]
Chr8:145668149 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.25+15G>A single nucleotide variant not provided [RCV003682438] Chr8:144444375 [GRCh38]
Chr8:145669758 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.704T>A (p.Met235Lys) single nucleotide variant not provided [RCV003844957] Chr8:144442287 [GRCh38]
Chr8:145667670 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3543G>C (p.Leu1181=) single nucleotide variant not provided [RCV003840690] Chr8:144433604 [GRCh38]
Chr8:145658987 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.750+10G>T single nucleotide variant not provided [RCV003733359] Chr8:144442231 [GRCh38]
Chr8:145667614 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2019C>T (p.Pro673=) single nucleotide variant not provided [RCV003554087] Chr8:144436414 [GRCh38]
Chr8:145661797 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3007-17A>G single nucleotide variant not provided [RCV003682894] Chr8:144434906 [GRCh38]
Chr8:145660289 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.26-12T>C single nucleotide variant not provided [RCV003867846] Chr8:144444287 [GRCh38]
Chr8:145669670 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.121+8C>T single nucleotide variant not provided [RCV003821460] Chr8:144444172 [GRCh38]
Chr8:145669555 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_013432.5(TONSL):c.3560-7G>A single nucleotide variant not provided [RCV003872033] Chr8:144432467 [GRCh38]
Chr8:145657850 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.834G>A (p.Gln278=) single nucleotide variant not provided [RCV003842738] Chr8:144442068 [GRCh38]
Chr8:145667451 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.959T>G (p.Leu320Arg) single nucleotide variant not provided [RCV003567591] Chr8:144441018 [GRCh38]
Chr8:145666401 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3186G>C (p.Leu1062=) single nucleotide variant not provided [RCV003685529] Chr8:144434179 [GRCh38]
Chr8:145659562 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2117C>T (p.Thr706Ile) single nucleotide variant not provided [RCV003862818] Chr8:144436316 [GRCh38]
Chr8:145661699 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1891-15A>T single nucleotide variant not provided [RCV003685621] Chr8:144436696 [GRCh38]
Chr8:145662079 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1884T>C (p.Thr628=) single nucleotide variant not provided [RCV003722578] Chr8:144436763 [GRCh38]
Chr8:145662146 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3085+14G>A single nucleotide variant not provided [RCV003869842] Chr8:144434797 [GRCh38]
Chr8:145660180 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.265-6A>G single nucleotide variant not provided [RCV003720267] Chr8:144443327 [GRCh38]
Chr8:145668710 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2883C>T (p.Ala961=) single nucleotide variant not provided [RCV003869512] Chr8:144435140 [GRCh38]
Chr8:145660523 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2883C>G (p.Ala961=) single nucleotide variant not provided [RCV003721231] Chr8:144435140 [GRCh38]
Chr8:145660523 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2727C>A (p.Pro909=) single nucleotide variant not provided [RCV003711928] Chr8:144435706 [GRCh38]
Chr8:145661089 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.378G>A (p.Ser126=) single nucleotide variant not provided [RCV003712055] Chr8:144443208 [GRCh38]
Chr8:145668591 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3966G>A (p.Leu1322=) single nucleotide variant not provided [RCV003865922] Chr8:144429314 [GRCh38]
Chr8:145654697 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.664A>G (p.Met222Val) single nucleotide variant not provided [RCV003867625] Chr8:144442327 [GRCh38]
Chr8:145667710 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.787C>A (p.Arg263=) single nucleotide variant not provided [RCV003735772] Chr8:144442115 [GRCh38]
Chr8:145667498 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.26-18C>T single nucleotide variant not provided [RCV003867689] Chr8:144444293 [GRCh38]
Chr8:145669676 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1727-7T>C single nucleotide variant not provided [RCV003868940] Chr8:144436927 [GRCh38]
Chr8:145662310 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3612T>C (p.Pro1204=) single nucleotide variant not provided [RCV003846088] Chr8:144432408 [GRCh38]
Chr8:145657791 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3809+20G>A single nucleotide variant not provided [RCV003854183] Chr8:144431058 [GRCh38]
Chr8:145656441 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1752C>T (p.His584=) single nucleotide variant not provided [RCV003721884] Chr8:144436895 [GRCh38]
Chr8:145662278 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1290+2T>C single nucleotide variant not provided [RCV003860525] Chr8:144440349 [GRCh38]
Chr8:145665732 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.2574G>A (p.Arg858=) single nucleotide variant not provided [RCV003731708] Chr8:144435859 [GRCh38]
Chr8:145661242 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3735+1G>A single nucleotide variant not provided [RCV003566910] Chr8:144432284 [GRCh38]
Chr8:145657667 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.3218G>A (p.Arg1073Gln) single nucleotide variant not provided [RCV003730682] Chr8:144434147 [GRCh38]
Chr8:145659530 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2790C>T (p.Pro930=) single nucleotide variant not provided [RCV003676837] Chr8:144435536 [GRCh38]
Chr8:145660919 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2421G>T (p.Gly807=) single nucleotide variant not provided [RCV003857961] Chr8:144436012 [GRCh38]
Chr8:145661395 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3793G>A (p.Val1265Ile) single nucleotide variant not provided [RCV003865711] Chr8:144431094 [GRCh38]
Chr8:145656477 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.11:g.144433758CT[1] microsatellite not provided [RCV003707537] Chr8:144433758..144433759 [GRCh38]
Chr8:145659141..145659142 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_013432.5(TONSL):c.3944-19G>T single nucleotide variant not provided [RCV003842031] Chr8:144429355 [GRCh38]
Chr8:145654738 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.866-4G>A single nucleotide variant not provided [RCV003675615] Chr8:144441115 [GRCh38]
Chr8:145666498 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2667G>C (p.Ala889=) single nucleotide variant not provided [RCV003564662] Chr8:144435766 [GRCh38]
Chr8:145661149 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3525G>A (p.Leu1175=) single nucleotide variant not provided [RCV003858332] Chr8:144433622 [GRCh38]
Chr8:145659005 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.4086C>T (p.Pro1362=) single nucleotide variant not provided [RCV003712241] Chr8:144429194 [GRCh38]
Chr8:145654577 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.474T>C (p.Asn158=) single nucleotide variant not provided [RCV003708194] Chr8:144442781 [GRCh38]
Chr8:145668164 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.547G>A (p.Asp183Asn) single nucleotide variant not provided [RCV003727305] Chr8:144442708 [GRCh38]
Chr8:145668091 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2328C>A (p.Pro776=) single nucleotide variant not provided [RCV003861787] Chr8:144436105 [GRCh38]
Chr8:145661488 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.171G>A (p.Arg57=) single nucleotide variant not provided [RCV003680462] Chr8:144443975 [GRCh38]
Chr8:145669358 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2508G>T (p.Leu836=) single nucleotide variant not provided [RCV003819850] Chr8:144435925 [GRCh38]
Chr8:145661308 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1926G>A (p.Val642=) single nucleotide variant not provided [RCV003843601] Chr8:144436646 [GRCh38]
Chr8:145662029 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.1291-6C>T single nucleotide variant not provided [RCV003710966] Chr8:144440216 [GRCh38]
Chr8:145665599 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV003683354] Chr8:144444414 [GRCh38]
Chr8:145669797 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.4077G>A (p.Arg1359=) single nucleotide variant not provided [RCV003731640] Chr8:144429203 [GRCh38]
Chr8:145654586 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.2015-18G>T single nucleotide variant not provided [RCV003821541] Chr8:144436436 [GRCh38]
Chr8:145661819 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.26-3C>T single nucleotide variant TONSL-related disorder [RCV003899062] Chr8:144444278 [GRCh38]
Chr8:145669661 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_013432.5(TONSL):c.2530C>G (p.Arg844Gly) single nucleotide variant Inborn genetic diseases [RCV004468013] Chr8:144435903 [GRCh38]
Chr8:145661286 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3667C>T (p.Leu1223Phe) single nucleotide variant Inborn genetic diseases [RCV004468019] Chr8:144432353 [GRCh38]
Chr8:145657736 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2300A>G (p.Gln767Arg) single nucleotide variant Inborn genetic diseases [RCV004468010] Chr8:144436133 [GRCh38]
Chr8:145661516 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3248G>A (p.Gly1083Glu) single nucleotide variant Inborn genetic diseases [RCV004468015] Chr8:144434117 [GRCh38]
Chr8:145659500 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3722G>A (p.Arg1241Gln) single nucleotide variant Inborn genetic diseases [RCV004468020] Chr8:144432298 [GRCh38]
Chr8:145657681 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.901G>A (p.Glu301Lys) single nucleotide variant Inborn genetic diseases [RCV004468023] Chr8:144441076 [GRCh38]
Chr8:145666459 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1201G>A (p.Glu401Lys) single nucleotide variant Inborn genetic diseases [RCV004468007] Chr8:144440440 [GRCh38]
Chr8:145665823 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3 copy number gain not provided [RCV004577489] Chr8:145033578..146296885 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1880G>A (p.Arg627His) single nucleotide variant Inborn genetic diseases [RCV004468009] Chr8:144436767 [GRCh38]
Chr8:145662150 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2528C>A (p.Thr843Asn) single nucleotide variant Inborn genetic diseases [RCV004468011] Chr8:144435905 [GRCh38]
Chr8:145661288 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2567A>G (p.Asn856Ser) single nucleotide variant Inborn genetic diseases [RCV004468014] Chr8:144435866 [GRCh38]
Chr8:145661249 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.3267G>T (p.Glu1089Asp) single nucleotide variant Inborn genetic diseases [RCV004468016] Chr8:144434098 [GRCh38]
Chr8:145659481 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3769G>A (p.Ala1257Thr) single nucleotide variant Inborn genetic diseases [RCV004468021] Chr8:144431118 [GRCh38]
Chr8:145656501 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3415A>T (p.Asn1139Tyr) single nucleotide variant Inborn genetic diseases [RCV004468018] Chr8:144433732 [GRCh38]
Chr8:145659115 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2003C>A (p.Ala668Asp) single nucleotide variant Inborn genetic diseases [RCV004682575] Chr8:144436569 [GRCh38]
Chr8:145661952 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2011C>A (p.Gln671Lys) single nucleotide variant Inborn genetic diseases [RCV004682576] Chr8:144436561 [GRCh38]
Chr8:145661944 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.727G>A (p.Glu243Lys) single nucleotide variant Inborn genetic diseases [RCV004682578] Chr8:144442264 [GRCh38]
Chr8:145667647 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.1438A>T (p.Ser480Cys) single nucleotide variant Inborn genetic diseases [RCV004682579] Chr8:144440063 [GRCh38]
Chr8:145665446 [GRCh37]
Chr8:8q24.3		 likely benign
NM_013432.5(TONSL):c.263A>C (p.Gln88Pro) single nucleotide variant Inborn genetic diseases [RCV004682580] Chr8:144443883 [GRCh38]
Chr8:145669266 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2819A>G (p.Gln940Arg) single nucleotide variant Inborn genetic diseases [RCV004682581] Chr8:144435507 [GRCh38]
Chr8:145660890 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.2383G>T (p.Ala795Ser) single nucleotide variant Inborn genetic diseases [RCV004682582] Chr8:144436050 [GRCh38]
Chr8:145661433 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.251C>T (p.Pro84Leu) single nucleotide variant Inborn genetic diseases [RCV004682584] Chr8:144443895 [GRCh38]
Chr8:145669278 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.596A>G (p.Glu199Gly) single nucleotide variant Inborn genetic diseases [RCV004682585] Chr8:144442395 [GRCh38]
Chr8:145667778 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3781G>A (p.Gly1261Arg) single nucleotide variant Inborn genetic diseases [RCV004682586] Chr8:144431106 [GRCh38]
Chr8:145656489 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_145657648)_(145669797_?)del deletion not provided [RCV004583340] Chr8:145657648..145669797 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_145655767)_(145669797_?)dup duplication not provided [RCV004583342] Chr8:145655767..145669797 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3269T>G (p.Leu1090Arg) single nucleotide variant TONSL-related disorder [RCV004735163] Chr8:144434096 [GRCh38]
Chr8:145659479 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3086-173C>T single nucleotide variant TONSL-related disorder [RCV004728627] Chr8:144434452 [GRCh38]
Chr8:145659835 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_013432.5(TONSL):c.3006_3006+1del deletion Sponastrime dysplasia [RCV004797435] Chr8:144435016..144435017 [GRCh38]
Chr8:145660399..145660400 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_013432.5(TONSL):c.449-2A>C single nucleotide variant TONSL-related disorder [RCV004736505] Chr8:144442808 [GRCh38]
Chr8:145668191 [GRCh37]
Chr8:8q24.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:719
Count of miRNA genes:536
Interacting mature miRNAs:598
Transcripts:ENST00000409379, ENST00000497613
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH71203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,662,172 - 145,662,436UniSTSGRCh37
Build 368145,632,980 - 145,633,244RGDNCBI36
Celera8141,836,606 - 141,836,870RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,775,407 - 140,775,671UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map