WRN (WRN RecQ like helicase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: WRN (WRN RecQ like helicase) Homo sapiens
Analyze
Symbol: WRN
Name: WRN RecQ like helicase
RGD ID: 1318280
HGNC Page HGNC:12791
Description: Enables several functions, including DNA binding activity; DNA helicase activity; and metal ion binding activity. Involved in several processes, including DNA geometric change; DNA metabolic process; and cellular response to gamma radiation. Acts upstream of or within cellular response to starvation and protein localization to nucleolus. Located in centrosome; chromosome, telomeric region; and nuclear lumen. Implicated in Werner syndrome; breast cancer; coronary artery disease (multiple); diffuse scleroderma; and senile cataract. Biomarker of restrictive cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN; DKFZp686C2056; DNA helicase, RecQ-like type 3; exonuclease WRN; recQ protein-like 2; RECQ3; RECQL2; RECQL3; Werner syndrome ATP-dependent helicase; Werner syndrome RecQ like helicase; Werner syndrome, RecQ helicase-like
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
GRCh38831,033,810 - 31,176,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl831,033,788 - 31,176,138 (+)EnsemblGRCh38hg38GRCh38
GRCh37830,891,326 - 31,033,654 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36831,010,320 - 31,150,818 (+)NCBINCBI36Build 36hg18NCBI36
Build 34831,010,319 - 31,150,818NCBI
Celera829,850,819 - 29,989,925 (+)NCBICelera
Cytogenetic Map8p12NCBI
HuRef829,435,610 - 29,576,278 (+)NCBIHuRef
CHM1_1831,092,222 - 31,232,737 (+)NCBICHM1_1
T2T-CHM13v2.0831,314,935 - 31,457,266 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IDA)
chromosome  (IBA,IEA)
chromosome, telomeric region  (IDA,IEA)
cytoplasm  (IBA)
nuclear speck  (IDA)
nucleolus  (IDA,IEA,ISO)
nucleoplasm  (IBA,IDA,IEA,TAS)
nucleus  (IBA,IEA)
replication fork  (IEA,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral vascular morphology  (IAGP)
Abnormal hair whorl  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the voice  (IAGP)
Abnormally high-pitched voice  (IAGP)
Achilles tendon calcification  (IAGP)
Acral lentiginous melanoma  (IAGP)
Age-related cataract  (IAGP)
Alopecia of scalp  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplasia/Hypoplasia of the testes  (IAGP)
Atherosclerosis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bird-like facies  (IAGP)
Body ache  (IAGP)
Breast carcinoma  (IAGP)
Cataract  (IAGP)
Chondrocalcinosis  (IAGP)
Congestive heart failure  (IAGP)
Convex nasal ridge  (IAGP)
Cutaneous melanoma  (IAGP)
Decreased body weight  (IAGP)
Decreased fertility  (IAGP)
Dermal atrophy  (IAGP)
Diabetes mellitus  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated hemoglobin A1c  (IAGP)
Gastrointestinal carcinoma  (IAGP)
Hyperglycemia  (IAGP)
Hyperkeratosis  (IAGP)
Hypertension  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypogonadism  (IAGP)
Increased bone mineral density  (IAGP)
Insulin resistance  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Lack of skin elasticity  (IAGP)
Laryngomalacia  (IAGP)
Lipoatrophy  (IAGP)
Lipodystrophy  (IAGP)
Low back pain  (IAGP)
Mask-like facies  (IAGP)
Medulloblastoma  (IAGP)
Melanoma  (IAGP)
Meningioma  (IAGP)
Miscarriage  (IAGP)
Myelodysplasia  (IAGP)
Myocardial infarction  (IAGP)
Nail dystrophy  (IAGP)
Narrow face  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the oral cavity  (IAGP)
Neoplasm of the small intestine  (IAGP)
Osteoporosis  (IAGP)
Osteosarcoma  (IAGP)
Ovarian neoplasm  (IAGP)
Pili torti  (IAGP)
Plantar hyperkeratosis  (IAGP)
Premature arteriosclerosis  (IAGP)
Premature graying of hair  (IAGP)
Prematurely aged appearance  (IAGP)
Progeroid facial appearance  (IAGP)
Pulmonary artery stenosis  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced visual acuity  (IAGP)
Renal neoplasm  (IAGP)
Retinal degeneration  (IAGP)
Rocker bottom foot  (IAGP)
Sarcoma  (IAGP)
Scleroderma  (IAGP)
Secondary amenorrhea  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin ulcer  (IAGP)
Slender build  (IAGP)
Small hand  (IAGP)
Sparse scalp hair  (IAGP)
Squamous cell carcinoma  (IAGP)
Subcutaneous calcification  (IAGP)
Telangiectasia of the skin  (IAGP)
Thyroid carcinoma  (IAGP)
Type II diabetes mellitus  (IAGP)
White forelock  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Werner syndrome protein 1367 variants and disposition towards coronary artery disease in Caucasian patients. Bohr VA, etal., Mech Ageing Dev. 2004 Jul;125(7):491-6.
2. Polymorphisms at the Werner locus: II. 1074Leu/Phe, 1367Cys/Arg, longevity, and atherosclerosis. Castro E, etal., Am J Med Genet. 2000 Dec 11;95(4):374-80.
3. Genetic variation in the premature aging gene WRN: a case-control study on breast cancer susceptibility. Ding SL, etal., Cancer Epidemiol Biomarkers Prev. 2007 Feb;16(2):263-9.
4. Lack of association of the WRN C1367T polymorphism with senile cataract in the Israeli population. Ehrenberg M, etal., Mol Vis. 2010 Aug 28;16:1771-5.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis. Goto M, etal., Mod Rheumatol. 2006;16(4):229-34.
7. The spectrum of WRN mutations in Werner syndrome patients. Huang S, etal., Hum Mutat. 2006 Jun;27(6):558-67.
8. Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population. Jiang S, etal., Age (Dordr). 2013 Dec;35(6):2435-44. doi: 10.1007/s11357-013-9512-4. Epub 2013 Jan 20.
9. Hyperinsulinemia and insulin resistance in Wrn null mice fed a diabetogenic diet. Moore G, etal., Mech Ageing Dev. 2008 Apr;129(4):201-6. doi: 10.1016/j.mad.2007.12.009. Epub 2008 Jan 17.
10. WRN mutations in Werner syndrome. Moser MJ, etal., Hum Mutat. 1999;13(4):271-9.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Werner's syndrome and restrictive cardiomyopathy. Theodoropoulos TA, etal., Int J Cardiol. 2006 Apr 4;108(2):284-5.
16. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. Wang Z, etal., Breast Cancer Res Treat. 2009 Nov;118(1):169-75. doi: 10.1007/s10549-009-0327-z. Epub 2009 Feb 10.
17. Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population. Ye L, etal., Am J Med Genet. 1997 Feb 11;68(4):494-8.
Additional References at PubMed
PMID:1741060   PMID:8602509   PMID:9225981   PMID:9288107   PMID:9450180   PMID:9618508   PMID:9671808   PMID:9681877   PMID:9774636   PMID:10049920   PMID:10069711   PMID:10206685  
PMID:10373438   PMID:10608806   PMID:10779560   PMID:10783163   PMID:10839545   PMID:10871373   PMID:10871376   PMID:10880505   PMID:11027336   PMID:11161804   PMID:11252893   PMID:11301316  
PMID:11328876   PMID:11399766   PMID:11420665   PMID:11427532   PMID:11433031   PMID:11498731   PMID:11598021   PMID:11735402   PMID:11798788   PMID:11809708   PMID:11863428   PMID:11889123  
PMID:11919194   PMID:11971179   PMID:12020873   PMID:12034829   PMID:12067711   PMID:12080066   PMID:12177300   PMID:12181313   PMID:12242278   PMID:12244128   PMID:12356323   PMID:12384494  
PMID:12629512   PMID:12633936   PMID:12665521   PMID:12704184   PMID:12750383   PMID:12810661   PMID:12842909   PMID:12882351   PMID:12934712   PMID:12937274   PMID:12944467   PMID:14499497  
PMID:14534320   PMID:14578343   PMID:14596914   PMID:14612404   PMID:14657243   PMID:14688284   PMID:14734561   PMID:15026416   PMID:15037256   PMID:15084309   PMID:15140983   PMID:15149862  
PMID:15187093   PMID:15200954   PMID:15336909   PMID:15342556   PMID:15355988   PMID:15385537   PMID:15467456   PMID:15489508   PMID:15591207   PMID:15733840   PMID:15735006   PMID:15845538  
PMID:15965237   PMID:15995249   PMID:16030011   PMID:16087220   PMID:16098926   PMID:16132834   PMID:16150736   PMID:16223718   PMID:16287861   PMID:16326861   PMID:16339893   PMID:16380375  
PMID:16405962   PMID:16412221   PMID:16449207   PMID:16524884   PMID:16622405   PMID:16714450   PMID:16723399   PMID:16728435   PMID:16738949   PMID:16804003   PMID:16807477   PMID:17015833  
PMID:17043893   PMID:17115688   PMID:17118963   PMID:17148451   PMID:17173071   PMID:17266675   PMID:17317667   PMID:17498979   PMID:17521388   PMID:17541157   PMID:17563354   PMID:17611195  
PMID:17624410   PMID:17715146   PMID:17764108   PMID:17875398   PMID:17903301   PMID:17911100   PMID:17961633   PMID:17996922   PMID:18029348   PMID:18084250   PMID:18203716   PMID:18209099  
PMID:18212065   PMID:18250621   PMID:18270339   PMID:18271933   PMID:18312663   PMID:18524993   PMID:18558713   PMID:18596042   PMID:18596239   PMID:18639560   PMID:18670736   PMID:18676680  
PMID:18677484   PMID:18771289   PMID:18830263   PMID:18852298   PMID:18978339   PMID:18982914   PMID:19056482   PMID:19077115   PMID:19116388   PMID:19170196   PMID:19262689   PMID:19282863  
PMID:19343720   PMID:19487340   PMID:19502800   PMID:19554081   PMID:19573080   PMID:19591272   PMID:19615732   PMID:19625176   PMID:19652551   PMID:19692168   PMID:19734539   PMID:19773279  
PMID:19896421   PMID:19913121   PMID:19945966   PMID:19948975   PMID:19966859   PMID:20008939   PMID:20157511   PMID:20157518   PMID:20300059   PMID:20301687   PMID:20346739   PMID:20379614  
PMID:20428248   PMID:20443122   PMID:20447876   PMID:20453000   PMID:20477760   PMID:20508983   PMID:20516064   PMID:20522537   PMID:20585393   PMID:20600238   PMID:20628086   PMID:20657174  
PMID:20691646   PMID:20708636   PMID:20802463   PMID:20813000   PMID:20855428   PMID:21098121   PMID:21107010   PMID:21123451   PMID:21210717   PMID:21267443   PMID:21285356   PMID:21365542  
PMID:21389352   PMID:21558802   PMID:21558813   PMID:21639834   PMID:21679440   PMID:21736299   PMID:21763283   PMID:21873635   PMID:22002307   PMID:22037268   PMID:22039056   PMID:22159421  
PMID:22173703   PMID:22272300   PMID:22351772   PMID:22390926   PMID:22410776   PMID:22547774   PMID:22562358   PMID:22659133   PMID:22675465   PMID:22689923   PMID:22713343   PMID:22766507  
PMID:22787159   PMID:22797812   PMID:22871734   PMID:22989712   PMID:23045531   PMID:23253856   PMID:23322570   PMID:23329665   PMID:23523974   PMID:23619945   PMID:23671665   PMID:23849162  
PMID:23867477   PMID:24104479   PMID:24126761   PMID:24308646   PMID:24332808   PMID:24359226   PMID:24429382   PMID:24608430   PMID:24626809   PMID:24709898   PMID:24757718   PMID:24965941  
PMID:24989684   PMID:25122754   PMID:25170083   PMID:25178586   PMID:25228686   PMID:25257404   PMID:25294835   PMID:25456133   PMID:25468760   PMID:25637295   PMID:25730140   PMID:25801465  
PMID:25921289   PMID:25931448   PMID:26037922   PMID:26186194   PMID:26241669   PMID:26391948   PMID:26394601   PMID:26420422   PMID:26474068   PMID:26496610   PMID:26690424   PMID:26695548  
PMID:26808708   PMID:26959889   PMID:26984941   PMID:26993153   PMID:27121793   PMID:27173435   PMID:27238185   PMID:27407146   PMID:27427477   PMID:27453043   PMID:27492502   PMID:27612385  
PMID:27634057   PMID:27672210   PMID:27723720   PMID:27829440   PMID:27849570   PMID:27918544   PMID:27922005   PMID:28012115   PMID:28063943   PMID:28069813   PMID:28192407   PMID:28276523  
PMID:28394436   PMID:28436335   PMID:28514442   PMID:28700943   PMID:29146545   PMID:29395067   PMID:29656893   PMID:29668972   PMID:29800817   PMID:29952303   PMID:30021884   PMID:30154076  
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PMID:33571504   PMID:33907225   PMID:33961781   PMID:34079125   PMID:34709727   PMID:34732716   PMID:34772932   PMID:34944512   PMID:35163467   PMID:35563538   PMID:35751457   PMID:35844135  
PMID:35915203   PMID:36089195   PMID:36214313   PMID:36244648   PMID:36352191   PMID:36583333   PMID:37071664   PMID:37689310   PMID:37827155   PMID:37932011   PMID:38503516   PMID:38874681  


Genomics

Comparative Map Data
WRN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38831,033,810 - 31,176,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl831,033,788 - 31,176,138 (+)EnsemblGRCh38hg38GRCh38
GRCh37830,891,326 - 31,033,654 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36831,010,320 - 31,150,818 (+)NCBINCBI36Build 36hg18NCBI36
Build 34831,010,319 - 31,150,818NCBI
Celera829,850,819 - 29,989,925 (+)NCBICelera
Cytogenetic Map8p12NCBI
HuRef829,435,610 - 29,576,278 (+)NCBIHuRef
CHM1_1831,092,222 - 31,232,737 (+)NCBICHM1_1
T2T-CHM13v2.0831,314,935 - 31,457,266 (+)NCBIT2T-CHM13v2.0
Wrn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39833,724,400 - 33,875,591 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl833,724,412 - 33,875,555 (-)EnsemblGRCm39 Ensembl
GRCm38833,234,372 - 33,385,543 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl833,234,384 - 33,385,527 (-)EnsemblGRCm38mm10GRCm38
MGSCv37834,344,845 - 34,495,999 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36834,700,308 - 34,851,437 (-)NCBIMGSCv36mm8
Celera835,829,900 - 36,023,160 (-)NCBICelera
Cytogenetic Map8A3NCBI
cM Map820.3NCBI
Wrn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81665,466,552 - 65,602,951 (+)NCBIGRCr8
mRatBN7.21658,763,517 - 58,898,604 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1658,763,504 - 58,895,450 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01662,483,773 - 62,619,018 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1662,483,761 - 62,615,375 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01662,148,560 - 62,283,748 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41662,535,144 - 62,668,700 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1656,796,927 - 56,929,877 (+)NCBICelera
Cytogenetic Map16q12.3NCBI
Wrn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554637,525,100 - 7,633,596 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554637,495,243 - 7,633,532 (+)NCBIChiLan1.0ChiLan1.0
WRN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2749,612,933 - 49,764,582 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1825,329,155 - 25,486,021 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0830,353,643 - 30,492,978 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1827,541,145 - 27,679,855 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl827,541,145 - 27,679,855 (+)Ensemblpanpan1.1panPan2
WRN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11633,164,662 - 33,304,466 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1633,167,364 - 33,304,625 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1633,688,179 - 33,763,508 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01635,190,440 - 35,330,557 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1635,190,442 - 35,331,243 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11633,288,917 - 33,429,126 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01633,863,786 - 34,003,844 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01633,981,929 - 34,122,272 (-)NCBIUU_Cfam_GSD_1.0
Wrn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494356,358,222 - 56,501,123 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936792862,383 - 1,005,755 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936792862,659 - 1,005,065 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WRN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1553,966,986 - 54,094,587 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11553,966,968 - 54,094,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21561,329,196 - 61,464,598 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WRN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1829,150,256 - 29,288,830 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl829,174,229 - 29,289,129 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605212,803,116 - 12,942,546 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wrn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478012,876,093 - 13,025,739 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478012,875,747 - 13,051,492 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WRN
3315 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000553.6(WRN):c.2960G>A (p.Arg987Gln) single nucleotide variant Werner syndrome [RCV000543017] Chr8:31132499 [GRCh38]
Chr8:30990015 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2614G>A (p.Asp872Asn) single nucleotide variant Werner syndrome [RCV000526360] Chr8:31120408 [GRCh38]
Chr8:30977924 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.75A>G (p.Arg25=) single nucleotide variant Werner syndrome [RCV000552344]|Wiskott-Aldrich syndrome [RCV003316688]|not provided [RCV003437241] Chr8:31058522 [GRCh38]
Chr8:30916038 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3471T>C (p.Tyr1157=) single nucleotide variant Werner syndrome [RCV000543587] Chr8:31147375 [GRCh38]
Chr8:31004891 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3280G>A (p.Val1094Ile) single nucleotide variant Werner syndrome [RCV000526879] Chr8:31142672 [GRCh38]
Chr8:31000188 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2102C>A (p.Ala701Glu) single nucleotide variant Werner syndrome [RCV000547319] Chr8:31111628 [GRCh38]
Chr8:30969144 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3418T>G (p.Ser1140Ala) single nucleotide variant Inborn genetic diseases [RCV002527686]|Werner syndrome [RCV000530203] Chr8:31147087 [GRCh38]
Chr8:31004603 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3528T>C (p.Ala1176=) single nucleotide variant Werner syndrome [RCV000547796] Chr8:31147432 [GRCh38]
Chr8:31004948 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2569_2571dup (p.Arg857dup) duplication Werner syndrome [RCV000527792]|not provided [RCV002281105] Chr8:31120360..31120361 [GRCh38]
Chr8:30977876..30977877 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3676A>G (p.Asn1226Asp) single nucleotide variant Werner syndrome [RCV000550515] Chr8:31150444 [GRCh38]
Chr8:31007960 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3688-3T>C single nucleotide variant Werner syndrome [RCV000528929] Chr8:31154621 [GRCh38]
Chr8:31012137 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.523T>C (p.Trp175Arg) single nucleotide variant Werner syndrome [RCV000553387] Chr8:31067051 [GRCh38]
Chr8:30924567 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1879G>A (p.Val627Ile) single nucleotide variant Werner syndrome [RCV000531246]|not provided [RCV000598531] Chr8:31091879 [GRCh38]
Chr8:30949395 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1829+7C>T single nucleotide variant Werner syndrome [RCV001459937] Chr8:31090949 [GRCh38]
Chr8:30948465 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.25A>G (p.Thr9Ala) single nucleotide variant Werner syndrome [RCV000547889] Chr8:31058472 [GRCh38]
Chr8:30915988 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1582T>C (p.Leu528=) single nucleotide variant Werner syndrome [RCV000551055] Chr8:31088895 [GRCh38]
Chr8:30946411 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) single nucleotide variant WRN-related disorder [RCV003942745]|Werner syndrome [RCV000551303]|Wiskott-Aldrich syndrome [RCV003316686] Chr8:31085193 [GRCh38]
Chr8:30942709 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.1067A>G (p.Lys356Arg) single nucleotide variant Werner syndrome [RCV000529145] Chr8:31081094 [GRCh38]
Chr8:30938610 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2281T>C (p.Trp761Arg) single nucleotide variant Werner syndrome [RCV000532200] Chr8:31116361 [GRCh38]
Chr8:30973877 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.679T>C (p.Leu227=) single nucleotide variant Werner syndrome [RCV000549363] Chr8:31068282 [GRCh38]
Chr8:30925798 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2089-3024A>G single nucleotide variant Werner syndrome [RCV000032135] Chr8:31108591 [GRCh38]
Chr8:30966107 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2179dup (p.Cys727fs) duplication Werner syndrome [RCV000032136] Chr8:31111704..31111705 [GRCh38]
Chr8:30969220..30969221 [GRCh37]
Chr8:8p12		 pathogenic|not provided
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) single nucleotide variant Werner syndrome [RCV000032137]|not provided [RCV004704818]|not specified [RCV000122280] Chr8:31120294 [GRCh38]
Chr8:30977810 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.3460-2A>C single nucleotide variant Werner syndrome [RCV000032138] Chr8:31147362 [GRCh38]
Chr8:31004878 [GRCh37]
Chr8:8p12		 pathogenic|not provided
NM_000553.6(WRN):c.3590del (p.Asn1197fs) deletion Werner syndrome [RCV000032139] Chr8:31150355 [GRCh38]
Chr8:31007871 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.373A>G (p.Lys125Glu) single nucleotide variant Werner syndrome [RCV000144437] Chr8:31064932 [GRCh38]
Chr8:30922448 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) single nucleotide variant Werner syndrome [RCV000005777] Chr8:31157461 [GRCh38]
Chr8:31014977 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter) single nucleotide variant Werner syndrome [RCV000005778] Chr8:31147397 [GRCh38]
Chr8:31004913 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3690_3693del microsatellite Werner syndrome [RCV000005779] Chr8:31154622..31154625 [GRCh38]
Chr8:31012142..31012145 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3139-1G>C single nucleotide variant Werner syndrome [RCV000005780]|not provided [RCV000058932] Chr8:31141680 [GRCh38]
Chr8:30999196 [GRCh37]
Chr8:8p12		 pathogenic|not provided
NM_000553.6(WRN):c.3915dup (p.Ala1306fs) duplication Werner syndrome [RCV000005781] Chr8:31157462..31157463 [GRCh38]
Chr8:31014978..31014979 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) single nucleotide variant Medulloblastoma [RCV000722025]|Werner syndrome [RCV000005782]|not provided [RCV001546857] Chr8:31081132 [GRCh38]
Chr8:30938648 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu) single nucleotide variant Werner syndrome [RCV000005783] Chr8:31150454 [GRCh38]
Chr8:31007970 [GRCh37]
Chr8:8p12		 pathogenic
RECQL2, 1-BP DEL, NT1396 deletion Werner syndrome [RCV000005784] Chr8:8p12-p11.2 pathogenic
NM_000553.6(WRN):c.1730A>T (p.Lys577Met) single nucleotide variant Werner syndrome [RCV000005785] Chr8:31090843 [GRCh38]
Chr8:30948359 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.1588C>A (p.Pro530Thr) single nucleotide variant Werner syndrome [RCV000524935] Chr8:31088901 [GRCh38]
Chr8:30946417 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.919A>T (p.Thr307Ser) single nucleotide variant Inborn genetic diseases [RCV004678738]|Werner syndrome [RCV000544632]|not provided [RCV001535594] Chr8:31080946 [GRCh38]
Chr8:30938462 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.2059T>G (p.Leu687Val) single nucleotide variant WRN-related disorder [RCV003925599]|Werner syndrome [RCV000544660] Chr8:31100926 [GRCh38]
Chr8:30958442 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.229dup (p.Asp77fs) duplication Werner syndrome [RCV000543106] Chr8:31064304..31064305 [GRCh38]
Chr8:30921820..30921821 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.513_514delinsTC (p.Thr172Pro) indel Werner syndrome [RCV000543218] Chr8:31067041..31067042 [GRCh38]
Chr8:30924557..30924558 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3962G>A (p.Arg1321Gln) single nucleotide variant Werner syndrome [RCV000530272]|not provided [RCV004691850] Chr8:31157510 [GRCh38]
Chr8:31015026 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.628A>C (p.Lys210Gln) single nucleotide variant Werner syndrome [RCV000546155] Chr8:31067156 [GRCh38]
Chr8:30924672 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.42A>G (p.Lys14=) single nucleotide variant Werner syndrome [RCV000524721] Chr8:31058489 [GRCh38]
Chr8:30916005 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2631-8del deletion Werner syndrome [RCV000525998] Chr8:31124513 [GRCh38]
Chr8:30982029 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val) single nucleotide variant Werner syndrome [RCV000546368] Chr8:31157429 [GRCh38]
Chr8:31014945 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3819+3A>G single nucleotide variant Werner syndrome [RCV000552793] Chr8:31154758 [GRCh38]
Chr8:31012274 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.4231T>C (p.Phe1411Leu) single nucleotide variant Werner syndrome [RCV000525485] Chr8:31173034 [GRCh38]
Chr8:31030550 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3420C>A (p.Ser1140=) single nucleotide variant Werner syndrome [RCV000544532] Chr8:31147089 [GRCh38]
Chr8:31004605 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1628A>C (p.Tyr543Ser) single nucleotide variant Werner syndrome [RCV000550132]|not provided [RCV002281104] Chr8:31088941 [GRCh38]
Chr8:30946457 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2517C>T (p.Tyr839=) single nucleotide variant Werner syndrome [RCV000553438] Chr8:31120311 [GRCh38]
Chr8:30977827 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1719T>G (p.Thr573=) single nucleotide variant Werner syndrome [RCV000527975] Chr8:31090531 [GRCh38]
Chr8:30948047 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3328T>G (p.Tyr1110Asp) single nucleotide variant Werner syndrome [RCV000531089] Chr8:31143568 [GRCh38]
Chr8:31001084 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3724C>A (p.Gln1242Lys) single nucleotide variant Werner syndrome [RCV000553578] Chr8:31154660 [GRCh38]
Chr8:31012176 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2891T>G (p.Phe964Cys) single nucleotide variant Werner syndrome [RCV000554236] Chr8:31132430 [GRCh38]
Chr8:30989946 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.747C>A (p.Asp249Glu) single nucleotide variant Inborn genetic diseases [RCV002528314]|WRN-related disorder [RCV003409772]|Werner syndrome [RCV000526842] Chr8:31076195 [GRCh38]
Chr8:30933711 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) deletion Werner syndrome [RCV000525763] Chr8:31111628..31111629 [GRCh38]
Chr8:30969144..30969145 [GRCh37]
Chr8:8p12		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21		 pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 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 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 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 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 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12		 pathogenic
NM_000553.4(WRN):c.2844C>T (p.Ser948=) single nucleotide variant Malignant melanoma [RCV000061795] Chr8:31132383 [GRCh38]
Chr8:30989899 [GRCh37]
Chr8:31109441 [NCBI36]
Chr8:8p12		 not provided
NM_000553.6(WRN):c.1577-3C>A single nucleotide variant Werner syndrome [RCV000380943]|Wiskott-Aldrich syndrome [RCV003315686]|not provided [RCV000836716]|not specified [RCV000118871] Chr8:31088887 [GRCh38]
Chr8:30946403 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.3138+6C>T single nucleotide variant Werner syndrome [RCV000294562]|Wiskott-Aldrich syndrome [RCV003315687]|not provided [RCV000836718]|not specified [RCV000118872] Chr8:31141606 [GRCh38]
Chr8:30999122 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.3138+7G>A single nucleotide variant Werner syndrome [RCV000316826]|Wiskott-Aldrich syndrome [RCV003315688]|not provided [RCV001636677]|not specified [RCV000118873] Chr8:31141607 [GRCh38]
Chr8:30999123 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) single nucleotide variant Werner syndrome [RCV000397558]|Wiskott-Aldrich syndrome [RCV003315689]|not provided [RCV000844486]|not specified [RCV000118874] Chr8:31142628 [GRCh38]
Chr8:31000144 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) single nucleotide variant Werner syndrome [RCV000320404]|Wiskott-Aldrich syndrome [RCV003315690]|not provided [RCV000836843]|not specified [RCV000118875] Chr8:31081188 [GRCh38]
Chr8:30938704 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000553.6(WRN):c.2361G>T (p.Leu787=) single nucleotide variant Werner syndrome [RCV000358122]|Wiskott-Aldrich syndrome [RCV003315691]|not provided [RCV000836743]|not specified [RCV000118876] Chr8:31116441 [GRCh38]
Chr8:30973957 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) single nucleotide variant Werner syndrome [RCV000281792]|Wiskott-Aldrich syndrome [RCV003315692]|not provided [RCV000835593]|not specified [RCV000118877] Chr8:31141764 [GRCh38]
Chr8:30999280 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000553.6(WRN):c.340G>A (p.Val114Ile) single nucleotide variant Werner syndrome [RCV000312662]|Wiskott-Aldrich syndrome [RCV003315693]|not provided [RCV001668268]|not specified [RCV000118878] Chr8:31064419 [GRCh38]
Chr8:30921935 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) single nucleotide variant Werner syndrome [RCV000368541]|Wiskott-Aldrich syndrome [RCV003315694]|not provided [RCV000836844]|not specified [RCV000118879] Chr8:31167122 [GRCh38]
Chr8:31024638 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) single nucleotide variant Werner syndrome [RCV000273969]|Wiskott-Aldrich syndrome [RCV003315695]|not provided [RCV000835594]|not specified [RCV000118880] Chr8:31167138 [GRCh38]
Chr8:31024654 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000553.6(WRN):c.513C>T (p.Cys171=) single nucleotide variant Werner syndrome [RCV000313663]|Wiskott-Aldrich syndrome [RCV003315696]|not provided [RCV000836715]|not specified [RCV000118881] Chr8:31067041 [GRCh38]
Chr8:30924557 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.1413A>C (p.Leu471Phe) single nucleotide variant Werner syndrome [RCV003764846]|not specified [RCV000122271] Chr8:31085228 [GRCh38]
Chr8:30942744 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) single nucleotide variant Werner syndrome [RCV000226111]|not provided [RCV003237732]|not specified [RCV000122272] Chr8:31087874 [GRCh38]
Chr8:30945390 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.1708G>C (p.Val570Leu) single nucleotide variant Werner syndrome [RCV000703075]|not specified [RCV000122273] Chr8:31090520 [GRCh38]
Chr8:30948036 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.1762G>A (p.Val588Ile) single nucleotide variant Werner syndrome [RCV001367832]|not specified [RCV000122274] Chr8:31090875 [GRCh38]
Chr8:30948391 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys) single nucleotide variant Werner syndrome [RCV000552831]|not specified [RCV000122275] Chr8:31091835 [GRCh38]
Chr8:30949351 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) single nucleotide variant Werner syndrome [RCV000227204]|Wiskott-Aldrich syndrome [RCV003315782]|not specified [RCV000122276] Chr8:31091882 [GRCh38]
Chr8:30949398 [GRCh37]
Chr8:8p12		 benign|likely benign|not provided
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) single nucleotide variant WRN-related disorder [RCV003398738]|Werner syndrome [RCV001080213]|not provided [RCV000725735]|not specified [RCV000122277] Chr8:31096778 [GRCh38]
Chr8:30954294 [GRCh37]
Chr8:8p12		 benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.2165A>G (p.Asn722Ser) single nucleotide variant Werner syndrome [RCV000528548]|not specified [RCV000122278] Chr8:31111691 [GRCh38]
Chr8:30969207 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) single nucleotide variant Werner syndrome [RCV000344080]|not provided [RCV000857870]|not specified [RCV000122279] Chr8:31058542 [GRCh38]
Chr8:30916058 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) single nucleotide variant Werner syndrome [RCV000233425]|Wiskott-Aldrich syndrome [RCV003315783]|not provided [RCV004721269]|not specified [RCV000122281] Chr8:31132476 [GRCh38]
Chr8:30989992 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) single nucleotide variant Werner syndrome [RCV000231217]|Wiskott-Aldrich syndrome [RCV003315784]|not specified [RCV000122282] Chr8:31132489 [GRCh38]
Chr8:30990005 [GRCh37]
Chr8:8p12		 benign|likely benign|not provided
NM_000553.6(WRN):c.3097C>T (p.Arg1033Trp) single nucleotide variant Werner syndrome [RCV000234763]|not specified [RCV000122283] Chr8:31141559 [GRCh38]
Chr8:30999075 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.2978G>A (p.Arg993His) single nucleotide variant Ovarian cancer [RCV003153404]|Werner syndrome [RCV000456321]|not provided [RCV001579799]|not specified [RCV000122284] Chr8:31141440 [GRCh38]
Chr8:30998956 [GRCh37]
Chr8:8p12		 likely pathogenic|uncertain significance|not provided
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) single nucleotide variant Inborn genetic diseases [RCV004019696]|Werner syndrome [RCV000227936]|not provided [RCV000857886]|not specified [RCV000122285] Chr8:31141445 [GRCh38]
Chr8:30998961 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) single nucleotide variant Werner syndrome [RCV000230775]|not provided [RCV000726887]|not specified [RCV000122286] Chr8:31141448 [GRCh38]
Chr8:30998964 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.3251C>T (p.Ser1084Leu) single nucleotide variant Werner syndrome [RCV000821490]|not specified [RCV000122287] Chr8:31142643 [GRCh38]
Chr8:31000159 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) single nucleotide variant WRN-related disorder [RCV003915221]|Werner syndrome [RCV001083827]|not provided [RCV000724001]|not specified [RCV000122288] Chr8:31147091 [GRCh38]
Chr8:31004607 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.107G>A (p.Arg36Gln) single nucleotide variant WRN-related disorder [RCV003925216]|Werner syndrome [RCV001085837]|Wiskott-Aldrich syndrome [RCV003315785]|not provided [RCV000733018]|not specified [RCV000122289] Chr8:31059163 [GRCh38]
Chr8:30916679 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.145T>A (p.Phe49Ile) single nucleotide variant Werner syndrome [RCV001854678]|not specified [RCV000122290] Chr8:31059201 [GRCh38]
Chr8:30916717 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.3506A>G (p.Asn1169Ser) single nucleotide variant Werner syndrome [RCV001854679]|not specified [RCV000122291] Chr8:31147410 [GRCh38]
Chr8:31004926 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.3731C>T (p.Thr1244Met) single nucleotide variant Werner syndrome [RCV000477406]|not specified [RCV000122292] Chr8:31154667 [GRCh38]
Chr8:31012183 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) single nucleotide variant Werner syndrome [RCV000231281]|not provided [RCV000858031]|not specified [RCV000122293] Chr8:31154721 [GRCh38]
Chr8:31012237 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) single nucleotide variant Werner syndrome [RCV000228973]|not provided [RCV000727484]|not specified [RCV000122294] Chr8:31157423 [GRCh38]
Chr8:31014939 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.4165A>G (p.Lys1389Glu) single nucleotide variant Werner syndrome [RCV000464895]|not specified [RCV000122295] Chr8:31167204 [GRCh38]
Chr8:31024720 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu) single nucleotide variant Werner syndrome [RCV000547973]|not specified [RCV000122296] Chr8:31167166 [GRCh38]
Chr8:31024682 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) single nucleotide variant Werner syndrome [RCV000234534]|Wiskott-Aldrich syndrome [RCV003315786]|not provided [RCV001550970]|not specified [RCV000122297] Chr8:31167054 [GRCh38]
Chr8:31024570 [GRCh37]
Chr8:8p12		 benign|likely benign|not provided
NM_000553.6(WRN):c.4051G>A (p.Ala1351Thr) single nucleotide variant Werner syndrome [RCV003764847]|not specified [RCV000122298] Chr8:31167090 [GRCh38]
Chr8:31024606 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.4191G>A (p.Glu1397=) single nucleotide variant WRN-related disorder [RCV004748590]|Werner syndrome [RCV000473088]|not provided [RCV001535604]|not specified [RCV000122299] Chr8:31167230 [GRCh38]
Chr8:31024746 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance|not provided
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) single nucleotide variant Werner syndrome [RCV000988046]|Wiskott-Aldrich syndrome [RCV003315787]|not provided [RCV001785472]|not specified [RCV000122300] Chr8:31173019 [GRCh38]
Chr8:31030535 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000553.6(WRN):c.443T>A (p.Leu148Gln) single nucleotide variant Werner syndrome [RCV001229545]|not specified [RCV000122301] Chr8:31065002 [GRCh38]
Chr8:30922518 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.514A>C (p.Thr172Pro) single nucleotide variant Werner syndrome [RCV000464655]|not provided [RCV001753506]|not specified [RCV000122302] Chr8:31067042 [GRCh38]
Chr8:30924558 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.587G>A (p.Arg196His) single nucleotide variant WRN-related disorder [RCV004748591]|Werner syndrome [RCV000633190]|not specified [RCV000122303] Chr8:31067115 [GRCh38]
Chr8:30924631 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.667A>G (p.Ile223Val) single nucleotide variant Werner syndrome [RCV000802981]|not specified [RCV000122304] Chr8:31068270 [GRCh38]
Chr8:30925786 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) single nucleotide variant WRN-related disorder [RCV003935170]|Werner syndrome [RCV000533817]|not specified [RCV000122305] Chr8:31068323 [GRCh38]
Chr8:30925839 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) single nucleotide variant Malignant tumor of breast [RCV001269485]|Werner syndrome [RCV000231527]|Wiskott-Aldrich syndrome [RCV003315788]|not provided [RCV001579808]|not specified [RCV000122306] Chr8:31080997 [GRCh38]
Chr8:30938513 [GRCh37]
Chr8:8p12		 benign|likely benign|not provided
NM_000553.6(WRN):c.1240C>G (p.Leu414Val) single nucleotide variant Werner syndrome [RCV000228964]|not specified [RCV000122307] Chr8:31081267 [GRCh38]
Chr8:30938783 [GRCh37]
Chr8:8p12		 uncertain significance|not provided
NM_000553.6(WRN):c.968C>T (p.Ser323Leu) single nucleotide variant Werner syndrome [RCV000470767]|not provided [RCV002469016]|not specified [RCV000122308] Chr8:31080995 [GRCh38]
Chr8:30938511 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance|not provided
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) single nucleotide variant Inborn genetic diseases [RCV002515905]|Werner syndrome [RCV000228291]|not provided [RCV000857885]|not specified [RCV000122309] Chr8:31081176 [GRCh38]
Chr8:30938692 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000553.6(WRN):c.2176A>G (p.Thr726Ala) single nucleotide variant Werner syndrome [RCV001231049] Chr8:31111702 [GRCh38]
Chr8:30969218 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1757T>C (p.Val586Ala) single nucleotide variant Werner syndrome [RCV001348460] Chr8:31090870 [GRCh38]
Chr8:30948386 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.487_488del (p.Asp163fs) deletion Werner syndrome [RCV000190647] Chr8:31065045..31065046 [GRCh38]
Chr8:30922561..30922562 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.561A>G (p.Lys187=) single nucleotide variant Werner syndrome [RCV001095680]|not provided [RCV000179333] Chr8:31067089 [GRCh38]
Chr8:30924605 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.1899-10G>T single nucleotide variant not provided [RCV001726602]|not specified [RCV001579438] Chr8:31096758 [GRCh38]
Chr8:30954274 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.355+91C>T single nucleotide variant not provided [RCV001572323] Chr8:31064525 [GRCh38]
Chr8:30922041 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.724+74C>T single nucleotide variant not provided [RCV001545477] Chr8:31068401 [GRCh38]
Chr8:30925917 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3294A>T (p.Leu1098Phe) single nucleotide variant Werner syndrome [RCV001348680] Chr8:31142686 [GRCh38]
Chr8:31000202 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.113G>A (p.Ser38Asn) single nucleotide variant Werner syndrome [RCV001302833] Chr8:31059169 [GRCh38]
Chr8:30916685 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del) microsatellite WRN-related disorder [RCV003975268]|Werner syndrome [RCV000469474]|not provided [RCV000174258] Chr8:31087861..31087863 [GRCh38]
Chr8:30945377..30945379 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 copy number loss See cases [RCV000136878] Chr8:29362097..40231708 [GRCh38]
Chr8:29219614..40089227 [GRCh37]
Chr8:29275533..40208384 [NCBI36]
Chr8:8p12-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12		 pathogenic
NM_000553.6(WRN):c.1992C>T (p.Leu664=) single nucleotide variant Werner syndrome [RCV001088323]|not provided [RCV000175276] Chr8:31100859 [GRCh38]
Chr8:30958375 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 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 8p12(chr8:30368765-36421541)x3 copy number gain See cases [RCV000139926] Chr8:30368765..36421541 [GRCh38]
Chr8:30226281..36279059 [GRCh37]
Chr8:30345823..36398222 [NCBI36]
Chr8:8p12		 uncertain significance
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 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 8p12(chr8:30958352-32189009)x3 copy number gain See cases [RCV000142168] Chr8:30958352..32189009 [GRCh38]
Chr8:30815868..32046525 [GRCh37]
Chr8:30935410..32166067 [NCBI36]
Chr8:8p12		 likely benign|uncertain significance
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 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 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 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 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
NM_000553.6(WRN):c.2521G>A (p.Ala841Thr) single nucleotide variant Inborn genetic diseases [RCV002516701]|Werner syndrome [RCV000225916]|not provided [RCV000176165] Chr8:31120315 [GRCh38]
Chr8:30977831 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3091G>C (p.Val1031Leu) single nucleotide variant Inborn genetic diseases [RCV002516708]|Werner syndrome [RCV000560597]|not provided [RCV000176534] Chr8:31141553 [GRCh38]
Chr8:30999069 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3627T>A (p.Ala1209=) single nucleotide variant Werner syndrome [RCV000524746]|not specified [RCV000177521] Chr8:31150395 [GRCh38]
Chr8:31007911 [GRCh37]
Chr8:8p12		 benign|likely benign|uncertain significance
NM_000553.6(WRN):c.3801A>G (p.Gln1267=) single nucleotide variant WRN-related disorder [RCV003403263]|Werner syndrome [RCV000542580] Chr8:31154737 [GRCh38]
Chr8:31012253 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1892T>C (p.Ile631Thr) single nucleotide variant Werner syndrome [RCV000546148] Chr8:31091892 [GRCh38]
Chr8:30949408 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3132G>A (p.Thr1044=) single nucleotide variant Werner syndrome [RCV000547259]|Wiskott-Aldrich syndrome [RCV003316687] Chr8:31141594 [GRCh38]
Chr8:30999110 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3384-1G>A single nucleotide variant Werner syndrome [RCV000548461] Chr8:31147052 [GRCh38]
Chr8:31004568 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2886A>G (p.Gln962=) single nucleotide variant Werner syndrome [RCV000543951] Chr8:31132425 [GRCh38]
Chr8:30989941 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.2123C>T (p.Ser708Phe) single nucleotide variant Werner syndrome [RCV000525505] Chr8:31111649 [GRCh38]
Chr8:30969165 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1260A>G (p.Lys420=) single nucleotide variant Werner syndrome [RCV000543833] Chr8:31081287 [GRCh38]
Chr8:30938803 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1084G>A (p.Val362Ile) single nucleotide variant Werner syndrome [RCV000544065] Chr8:31081111 [GRCh38]
Chr8:30938627 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) single nucleotide variant Werner syndrome [RCV000229443]|not provided [RCV001357192] Chr8:31124910 [GRCh38]
Chr8:30982426 [GRCh37]
Chr8:8p12		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1439A>T (p.Glu480Val) single nucleotide variant Werner syndrome [RCV000229629]|not provided [RCV001762521] Chr8:31087783 [GRCh38]
Chr8:30945299 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) single nucleotide variant WRN-related disorder [RCV003919923]|Werner syndrome [RCV000227669]|not provided [RCV000858340] Chr8:31090529 [GRCh38]
Chr8:30948045 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) single nucleotide variant Werner syndrome [RCV000228151]|Wiskott-Aldrich syndrome [RCV003316248]|not provided [RCV004706672] Chr8:31142629 [GRCh38]
Chr8:31000145 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.3101A>T (p.Tyr1034Phe) single nucleotide variant WRN-related disorder [RCV003401171]|Werner syndrome [RCV000228590]|Wiskott-Aldrich syndrome [RCV003316247] Chr8:31141563 [GRCh38]
Chr8:30999079 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.106C>T (p.Arg36Trp) single nucleotide variant Werner syndrome [RCV000228744] Chr8:31059162 [GRCh38]
Chr8:30916678 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2029G>A (p.Gly677Arg) single nucleotide variant WRN-related disorder [RCV004748674]|Werner syndrome [RCV000229000] Chr8:31100896 [GRCh38]
Chr8:30958412 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.362C>G (p.Pro121Arg) single nucleotide variant Werner syndrome [RCV000230828] Chr8:31064921 [GRCh38]
Chr8:30922437 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1530A>G (p.Glu510=) single nucleotide variant Werner syndrome [RCV000229174] Chr8:31087874 [GRCh38]
Chr8:30945390 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3139-9T>C single nucleotide variant Werner syndrome [RCV000231433] Chr8:31141672 [GRCh38]
Chr8:30999188 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.16T>C (p.Leu6=) single nucleotide variant Werner syndrome [RCV000229850] Chr8:31058463 [GRCh38]
Chr8:30915979 [GRCh37]
Chr8:8p12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1275A>G (p.Leu425=) single nucleotide variant Werner syndrome [RCV001461629] Chr8:31083704 [GRCh38]
Chr8:30941220 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2067C>T (p.Ser689=) single nucleotide variant WRN-related disorder [RCV003955314]|Werner syndrome [RCV001081277]|not provided [RCV000596682] Chr8:31100934 [GRCh38]
Chr8:30958450 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3459+6G>C single nucleotide variant Werner syndrome [RCV000230150] Chr8:31147134 [GRCh38]
Chr8:31004650 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu) single nucleotide variant WRN-related disorder [RCV003919924]|Werner syndrome [RCV000232120]|not provided [RCV001356218] Chr8:31142651 [GRCh38]
Chr8:31000167 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) single nucleotide variant Werner syndrome [RCV000230502]|Wiskott-Aldrich syndrome [RCV003316245]|not provided [RCV001547339]|not specified [RCV001818573] Chr8:31090838 [GRCh38]
Chr8:30948354 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.3972C>G (p.Pro1324=) single nucleotide variant Werner syndrome [RCV000230611] Chr8:31157520 [GRCh38]
Chr8:31015036 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1411T>A (p.Leu471Ile) single nucleotide variant Werner syndrome [RCV000226782] Chr8:31085226 [GRCh38]
Chr8:30942742 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.430C>G (p.Gln144Glu) single nucleotide variant Inborn genetic diseases [RCV004678653]|Werner syndrome [RCV000228747] Chr8:31064989 [GRCh38]
Chr8:30922505 [GRCh37]
Chr8:8p12		 likely pathogenic|uncertain significance
NM_000553.6(WRN):c.326G>A (p.Cys109Tyr) single nucleotide variant WRN-related disorder [RCV003907855]|Werner syndrome [RCV000225964] Chr8:31064405 [GRCh38]
Chr8:30921921 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) single nucleotide variant Werner syndrome [RCV001083791]|not provided [RCV000393449]|not specified [RCV001818576] Chr8:31147122 [GRCh38]
Chr8:31004638 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.339C>T (p.His113=) single nucleotide variant Werner syndrome [RCV000231656] Chr8:31064418 [GRCh38]
Chr8:30921934 [GRCh37]
Chr8:8p12		 likely pathogenic|likely benign
NM_000553.6(WRN):c.2546_2547dup (p.Gln850fs) duplication Werner syndrome [RCV000229897] Chr8:31120338..31120339 [GRCh38]
Chr8:30977854..30977855 [GRCh37]
Chr8:8p12		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
NM_000553.6(WRN):c.2241T>G (p.Leu747=) single nucleotide variant Werner syndrome [RCV000226355]|not provided [RCV001706248] Chr8:31111767 [GRCh38]
Chr8:30969283 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3437C>T (p.Ser1146Leu) single nucleotide variant Werner syndrome [RCV000233471] Chr8:31147106 [GRCh38]
Chr8:31004622 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.144A>G (p.Glu48=) single nucleotide variant Werner syndrome [RCV000232487]|Wiskott-Aldrich syndrome [RCV003316244]|not provided [RCV004705053]|not specified [RCV001818572] Chr8:31059200 [GRCh38]
Chr8:30916716 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1899A>T (p.Leu633Phe) single nucleotide variant Werner syndrome [RCV000231171] Chr8:31096768 [GRCh38]
Chr8:30954284 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1652C>T (p.Pro551Leu) single nucleotide variant Werner syndrome [RCV000226962]|not provided [RCV004692848] Chr8:31088965 [GRCh38]
Chr8:30946481 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1953C>T (p.Gly651=) single nucleotide variant Werner syndrome [RCV000234039]|not provided [RCV001706247] Chr8:31096822 [GRCh38]
Chr8:30954338 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3738G>A (p.Leu1246=) single nucleotide variant Werner syndrome [RCV000232559]|not provided [RCV001579969] Chr8:31154674 [GRCh38]
Chr8:31012190 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.1704T>C (p.Val568=) single nucleotide variant Werner syndrome [RCV000232704] Chr8:31090516 [GRCh38]
Chr8:30948032 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2825+6G>T single nucleotide variant Werner syndrome [RCV000232756] Chr8:31125006 [GRCh38]
Chr8:30982522 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.355+4G>C single nucleotide variant Werner syndrome [RCV000233017]|not provided [RCV000597305]|not specified [RCV001818577] Chr8:31064438 [GRCh38]
Chr8:30921954 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.2940G>C (p.Gly980=) single nucleotide variant Werner syndrome [RCV000227258]|not provided [RCV001579436] Chr8:31132479 [GRCh38]
Chr8:30989995 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3781A>G (p.Ile1261Val) single nucleotide variant Inborn genetic diseases [RCV003343715]|Werner syndrome [RCV000227397] Chr8:31154717 [GRCh38]
Chr8:31012233 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1788T>C (p.Ser596=) single nucleotide variant Werner syndrome [RCV000234497]|Wiskott-Aldrich syndrome [RCV003316246]|not provided [RCV001563125]|not specified [RCV001818574] Chr8:31090901 [GRCh38]
Chr8:30948417 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1165del (p.Arg389fs) deletion Werner syndrome [RCV000232269]|not provided [RCV000999016] Chr8:31081190 [GRCh38]
Chr8:30938706 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.221C>T (p.Ser74Leu) single nucleotide variant Werner syndrome [RCV000232519] Chr8:31064300 [GRCh38]
Chr8:30921816 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.15del (p.Lys5fs) deletion Werner syndrome [RCV000233160] Chr8:31058455 [GRCh38]
Chr8:30915971 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2596G>A (p.Val866Ile) single nucleotide variant Werner syndrome [RCV000227720]|not provided [RCV001770192] Chr8:31120390 [GRCh38]
Chr8:30977906 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3559A>G (p.Met1187Val) single nucleotide variant Werner syndrome [RCV000227983] Chr8:31147463 [GRCh38]
Chr8:31004979 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2114C>T (p.Thr705Ile) single nucleotide variant Werner syndrome [RCV000234699]|not specified [RCV002282074] Chr8:31111640 [GRCh38]
Chr8:30969156 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4248T>C (p.Asp1416=) single nucleotide variant WRN-related disorder [RCV003947753]|Werner syndrome [RCV000225967]|not provided [RCV004712176] Chr8:31173051 [GRCh38]
Chr8:31030567 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1027G>A (p.Glu343Lys) single nucleotide variant WRN-related disorder [RCV003967618]|Werner syndrome [RCV000233788] Chr8:31081054 [GRCh38]
Chr8:30938570 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3819+5G>C single nucleotide variant WRN-related disorder [RCV003407771]|Werner syndrome [RCV000234079] Chr8:31154760 [GRCh38]
Chr8:31012276 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2980C>T (p.Leu994Phe) single nucleotide variant Werner syndrome [RCV000234097] Chr8:31141442 [GRCh38]
Chr8:30998958 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3209_3211delinsTTT (p.Cys1070_Pro1071delinsPheSer) indel Werner syndrome [RCV000234297] Chr8:31141751..31141753 [GRCh38]
Chr8:30999267..30999269 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4203A>G (p.Ala1401=) single nucleotide variant Werner syndrome [RCV000228300] Chr8:31173006 [GRCh38]
Chr8:31030522 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1513A>C (p.Thr505Pro) single nucleotide variant Werner syndrome [RCV000226327] Chr8:31087857 [GRCh38]
Chr8:30945373 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2131C>T (p.Arg711Trp) single nucleotide variant WRN-related disorder [RCV003967619]|Werner syndrome [RCV000228524]|not provided [RCV003237788]|not specified [RCV001818575] Chr8:31111657 [GRCh38]
Chr8:30969173 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3384-3T>C single nucleotide variant WRN-related disorder [RCV003919925]|Werner syndrome [RCV000228819]|not provided [RCV001706249] Chr8:31147050 [GRCh38]
Chr8:31004566 [GRCh37]
Chr8:8p12		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.3417T>C (p.Ser1139=) single nucleotide variant Werner syndrome [RCV000226632]|not provided [RCV003437017] Chr8:31147086 [GRCh38]
Chr8:31004602 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile) single nucleotide variant Ovarian cancer [RCV003153528]|WRN-related disorder [RCV003967620]|Werner syndrome [RCV000229198] Chr8:31116422 [GRCh38]
Chr8:30973938 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.586C>T (p.Arg196Cys) single nucleotide variant Werner syndrome [RCV000546978]|not provided [RCV003480671] Chr8:31067114 [GRCh38]
Chr8:30924630 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2518G>A (p.Gly840Ser) single nucleotide variant Werner syndrome [RCV000545246] Chr8:31120312 [GRCh38]
Chr8:30977828 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2360T>G (p.Leu787Arg) single nucleotide variant Werner syndrome [RCV000546735] Chr8:31116440 [GRCh38]
Chr8:30973956 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2095A>G (p.Ile699Val) single nucleotide variant Werner syndrome [RCV000548830] Chr8:31111621 [GRCh38]
Chr8:30969137 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.698C>T (p.Thr233Ile) single nucleotide variant Werner syndrome [RCV000528213] Chr8:31068301 [GRCh38]
Chr8:30925817 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1806G>C (p.Met602Ile) single nucleotide variant Werner syndrome [RCV000553203] Chr8:31090919 [GRCh38]
Chr8:30948435 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1577-17T>G single nucleotide variant Werner syndrome [RCV002057395]|Wiskott-Aldrich syndrome [RCV003316349]|not provided [RCV001589243]|not specified [RCV000246373] Chr8:31088873 [GRCh38]
Chr8:30946389 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.774T>C (p.Ser258=) single nucleotide variant Werner syndrome [RCV000526088] Chr8:31076222 [GRCh38]
Chr8:30933738 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3162T>G (p.Ala1054=) single nucleotide variant Werner syndrome [RCV000528369] Chr8:31141704 [GRCh38]
Chr8:30999220 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2557G>A (p.Gly853Ser) single nucleotide variant Werner syndrome [RCV000549402] Chr8:31120351 [GRCh38]
Chr8:30977867 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3983-12dup duplication Werner syndrome [RCV002057397]|not provided [RCV001689799]|not specified [RCV000251892] Chr8:31167003..31167004 [GRCh38]
Chr8:31024519..31024520 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.355+20A>T single nucleotide variant Werner syndrome [RCV002057396]|Wiskott-Aldrich syndrome [RCV003316351]|not provided [RCV001618394]|not specified [RCV000247141] Chr8:31064454 [GRCh38]
Chr8:30921970 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.3234-130T>C single nucleotide variant Werner syndrome [RCV002244070]|Wiskott-Aldrich syndrome [RCV003316350]|not provided [RCV001618393]|not specified [RCV000252196] Chr8:31142496 [GRCh38]
Chr8:31000012 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.1982-5del deletion Werner syndrome [RCV000394980]|not provided [RCV000836717]|not specified [RCV000242946] Chr8:31100838 [GRCh38]
Chr8:30958354 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1982-6_1982-5del deletion Werner syndrome [RCV000529746] Chr8:31100838..31100839 [GRCh38]
Chr8:30958354..30958355 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.725-9del deletion Werner syndrome [RCV002244071]|not provided [RCV001764231]|not specified [RCV000243367] Chr8:31076157 [GRCh38]
Chr8:30933673 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.*570A>G single nucleotide variant Werner syndrome [RCV000320616] Chr8:31173672 [GRCh38]
Chr8:31031188 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1795A>G (p.Ile599Val) single nucleotide variant Werner syndrome [RCV000346065] Chr8:31090908 [GRCh38]
Chr8:30948424 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) single nucleotide variant Werner syndrome [RCV000269754]|not provided [RCV003884511] Chr8:31132498 [GRCh38]
Chr8:30990014 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000553.5(WRN):c.-618C>G single nucleotide variant Werner syndrome [RCV000286259] Chr8:31033432 [GRCh38]
Chr8:30890948 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.2312G>C (p.Cys771Ser) single nucleotide variant Werner syndrome [RCV000303338] Chr8:31116392 [GRCh38]
Chr8:30973908 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-519C>A single nucleotide variant Werner syndrome [RCV000398113] Chr8:31033531 [GRCh38]
Chr8:30891047 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.421G>A (p.Glu141Lys) single nucleotide variant Werner syndrome [RCV000399299] Chr8:31064980 [GRCh38]
Chr8:30922496 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.*543C>G single nucleotide variant Werner syndrome [RCV000374072] Chr8:31173645 [GRCh38]
Chr8:31031161 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-699G>C single nucleotide variant Werner syndrome [RCV000374756] Chr8:31033351 [GRCh38]
Chr8:30890867 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1981+11A>G single nucleotide variant Werner syndrome [RCV000351456]|not provided [RCV003237831] Chr8:31096861 [GRCh38]
Chr8:30954377 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3972C>T (p.Pro1324=) single nucleotide variant Werner syndrome [RCV000309215] Chr8:31157520 [GRCh38]
Chr8:31015036 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.725-3del deletion Werner syndrome [RCV000354522] Chr8:31076170 [GRCh38]
Chr8:30933686 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.*194C>T single nucleotide variant Werner syndrome [RCV000354606]|not provided [RCV001584090] Chr8:31173296 [GRCh38]
Chr8:31030812 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.-197C>T single nucleotide variant Werner syndrome [RCV000379868] Chr8:31033853 [GRCh38]
Chr8:30891369 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.*588A>G single nucleotide variant Werner syndrome [RCV000379906] Chr8:31173690 [GRCh38]
Chr8:31031206 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val) single nucleotide variant Werner syndrome [RCV000332436] Chr8:31167219 [GRCh38]
Chr8:31024735 [GRCh37]
Chr8:8p12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.-213G>A single nucleotide variant Werner syndrome [RCV000260515] Chr8:31033837 [GRCh38]
Chr8:30891353 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.-37A>G single nucleotide variant Werner syndrome [RCV000383374] Chr8:31058411 [GRCh38]
Chr8:30915927 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-278G>C single nucleotide variant Werner syndrome [RCV000261551]|not provided [RCV004712577] Chr8:31033772 [GRCh38]
Chr8:30891288 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1831A>G (p.Met611Val) single nucleotide variant Werner syndrome [RCV000386626] Chr8:31091831 [GRCh38]
Chr8:30949347 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2128A>G (p.Ile710Val) single nucleotide variant Inborn genetic diseases [RCV003168567]|Ovarian cancer [RCV003153566]|Werner syndrome [RCV000338817] Chr8:31111654 [GRCh38]
Chr8:30969170 [GRCh37]
Chr8:8p12		 benign|uncertain significance
NM_000553.6(WRN):c.1155G>A (p.Glu385=) single nucleotide variant Werner syndrome [RCV000265538]|Wiskott-Aldrich syndrome [RCV003316508]|not provided [RCV001712766] Chr8:31081182 [GRCh38]
Chr8:30938698 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.5(WRN):c.-408C>T single nucleotide variant Werner syndrome [RCV000365374] Chr8:31033642 [GRCh38]
Chr8:30891158 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1466C>T (p.Pro489Leu) single nucleotide variant Werner syndrome [RCV000266339] Chr8:31087810 [GRCh38]
Chr8:30945326 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.-163C>G single nucleotide variant Werner syndrome [RCV000283028] Chr8:31033887 [GRCh38]
Chr8:30891403 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.3323A>C (p.Lys1108Thr) single nucleotide variant Werner syndrome [RCV000282967] Chr8:31143563 [GRCh38]
Chr8:31001079 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.-240G>A single nucleotide variant Werner syndrome [RCV000319342] Chr8:31033810 [GRCh38]
Chr8:30891326 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.*511C>T single nucleotide variant Werner syndrome [RCV000319580] Chr8:31173613 [GRCh38]
Chr8:31031129 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-605C>A single nucleotide variant Werner syndrome [RCV000343512] Chr8:31033445 [GRCh38]
Chr8:30890961 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.839+11del deletion Werner syndrome [RCV000259525] Chr8:31076298 [GRCh38]
Chr8:30933814 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.*458T>A single nucleotide variant Werner syndrome [RCV000259750] Chr8:31173560 [GRCh38]
Chr8:31031076 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-683G>T single nucleotide variant Werner syndrome [RCV000282651] Chr8:31033367 [GRCh38]
Chr8:30890883 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4035G>A (p.Thr1345=) single nucleotide variant Werner syndrome [RCV001087786]|not provided [RCV000276259] Chr8:31167074 [GRCh38]
Chr8:31024590 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3078A>G (p.Gly1026=) single nucleotide variant Werner syndrome [RCV000275448] Chr8:31141540 [GRCh38]
Chr8:30999056 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.229G>C (p.Asp77His) single nucleotide variant Werner syndrome [RCV000476369]|not provided [RCV000353835] Chr8:31064308 [GRCh38]
Chr8:30921824 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1005A>T (p.Glu335Asp) single nucleotide variant Werner syndrome [RCV001340086]|not provided [RCV000289087] Chr8:31081032 [GRCh38]
Chr8:30938548 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-289dup duplication Werner syndrome [RCV000277003] Chr8:31033756..31033757 [GRCh38]
Chr8:30891272..30891273 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.769A>G (p.Ile257Val) single nucleotide variant Werner syndrome [RCV000633239]|not provided [RCV000260722] Chr8:31076217 [GRCh38]
Chr8:30933733 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.747C>T (p.Asp249=) single nucleotide variant Werner syndrome [RCV000542155]|not provided [RCV000263920] Chr8:31076195 [GRCh38]
Chr8:30933711 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3098G>T (p.Arg1033Leu) single nucleotide variant Werner syndrome [RCV001207896]|not provided [RCV000300333] Chr8:31141560 [GRCh38]
Chr8:30999076 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1189A>G (p.Ile397Val) single nucleotide variant Werner syndrome [RCV001368115] Chr8:31081216 [GRCh38]
Chr8:30938732 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.96+1G>T single nucleotide variant Werner syndrome [RCV002282834] Chr8:31058544 [GRCh38]
Chr8:30916060 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.1814A>G (p.Gln605Arg) single nucleotide variant Werner syndrome [RCV001367988] Chr8:31090927 [GRCh38]
Chr8:30948443 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1431+149T>A single nucleotide variant not provided [RCV001566697] Chr8:31085395 [GRCh38]
Chr8:30942911 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4184A>G (p.Asn1395Ser) single nucleotide variant Werner syndrome [RCV000526253] Chr8:31167223 [GRCh38]
Chr8:31024739 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2671T>C (p.Tyr891His) single nucleotide variant Werner syndrome [RCV001367532] Chr8:31124562 [GRCh38]
Chr8:30982078 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2300C>G (p.Thr767Arg) single nucleotide variant Werner syndrome [RCV000531851] Chr8:31116380 [GRCh38]
Chr8:30973896 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.106_117del (p.Arg36_Val39del) deletion Werner syndrome [RCV000555390] Chr8:31059157..31059168 [GRCh38]
Chr8:30916673..30916684 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3819+14T>C single nucleotide variant Werner syndrome [RCV000362535] Chr8:31154769 [GRCh38]
Chr8:31012285 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000553.5(WRN):c.-437C>T single nucleotide variant Werner syndrome [RCV000303804] Chr8:31033613 [GRCh38]
Chr8:30891129 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3148T>C (p.Trp1050Arg) single nucleotide variant Werner syndrome [RCV000549957] Chr8:31141690 [GRCh38]
Chr8:30999206 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-295_-294insG insertion Werner syndrome [RCV000364219] Chr8:31033755..31033756 [GRCh38]
Chr8:30891271..30891272 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2529G>C (p.Lys843Asn) single nucleotide variant Werner syndrome [RCV000401378] Chr8:31120323 [GRCh38]
Chr8:30977839 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2537A>G (p.Glu846Gly) single nucleotide variant Werner syndrome [RCV000305051] Chr8:31120331 [GRCh38]
Chr8:30977847 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3000G>C (p.Arg1000Ser) single nucleotide variant Werner syndrome [RCV000365301] Chr8:31141462 [GRCh38]
Chr8:30998978 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.*553dup duplication Werner syndrome [RCV000284223] Chr8:31173649..31173650 [GRCh38]
Chr8:31031165..31031166 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-677G>T single nucleotide variant Werner syndrome [RCV000335390] Chr8:31033373 [GRCh38]
Chr8:30890889 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-284dup duplication Werner syndrome [RCV000368153] Chr8:31033762..31033763 [GRCh38]
Chr8:30891278..30891279 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly) single nucleotide variant Werner syndrome [RCV000551629]|not specified [RCV004767337] Chr8:31111645 [GRCh38]
Chr8:30969161 [GRCh37]
Chr8:8p12		 pathogenic|uncertain significance
NM_000553.6(WRN):c.*626A>G single nucleotide variant Werner syndrome [RCV000285214] Chr8:31173728 [GRCh38]
Chr8:31031244 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-297dup duplication Werner syndrome [RCV000307223] Chr8:31033751..31033752 [GRCh38]
Chr8:30891267..30891268 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3328T>C (p.Tyr1110His) single nucleotide variant Inborn genetic diseases [RCV004678737]|Werner syndrome [RCV000552089] Chr8:31143568 [GRCh38]
Chr8:31001084 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.-209T>G single nucleotide variant Werner syndrome [RCV000322759] Chr8:31033841 [GRCh38]
Chr8:30891357 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2088+6C>T single nucleotide variant WRN-related disorder [RCV003897808]|Werner syndrome [RCV000297853] Chr8:31100961 [GRCh38]
Chr8:30958477 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.-234T>A single nucleotide variant Werner syndrome [RCV000371648] Chr8:31033816 [GRCh38]
Chr8:30891332 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-289delG deletion Werner syndrome [RCV000311109] Chr8:31033757 [GRCh38]
Chr8:30891273 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.-152G>A single nucleotide variant Werner syndrome [RCV000340458] Chr8:31033898 [GRCh38]
Chr8:30891414 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.839+25dup duplication Werner syndrome [RCV000300644] Chr8:31076300..31076301 [GRCh38]
Chr8:30933816..30933817 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3343T>A (p.Cys1115Ser) single nucleotide variant Werner syndrome [RCV000342760] Chr8:31143583 [GRCh38]
Chr8:31001099 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-636G>C single nucleotide variant Werner syndrome [RCV000398121] Chr8:31033414 [GRCh38]
Chr8:30890930 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.5(WRN):c.-380G>A single nucleotide variant Werner syndrome [RCV000398283] Chr8:31033670 [GRCh38]
Chr8:30891186 [GRCh37]
Chr8:8p12		 uncertain significance
NC_000008.11:g.(?_31059147)_(31059271_?)del deletion Werner syndrome [RCV000530791] Chr8:31059147..31059271 [GRCh38]
Chr8:30916663..30916787 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3088G>A (p.Glu1030Lys) single nucleotide variant Werner syndrome [RCV000550331] Chr8:31141550 [GRCh38]
Chr8:30999066 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.446G>A (p.Arg149His) single nucleotide variant Werner syndrome [RCV000554130]|not provided [RCV003237899] Chr8:31065005 [GRCh38]
Chr8:30922521 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2245G>T (p.Asp749Tyr) single nucleotide variant Werner syndrome [RCV000806262] Chr8:31111771 [GRCh38]
Chr8:30969287 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2847G>A (p.Met949Ile) single nucleotide variant Werner syndrome [RCV000529631] Chr8:31132386 [GRCh38]
Chr8:30989902 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.452T>A (p.Phe151Tyr) single nucleotide variant Werner syndrome [RCV000533021] Chr8:31065011 [GRCh38]
Chr8:30922527 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.915T>C (p.Ile305=) single nucleotide variant Werner syndrome [RCV000529861] Chr8:31080942 [GRCh38]
Chr8:30938458 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2162G>T (p.Arg721Ile) single nucleotide variant Werner syndrome [RCV000555241] Chr8:31111688 [GRCh38]
Chr8:30969204 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.394G>A (p.Ala132Thr) single nucleotide variant Werner syndrome [RCV000556492] Chr8:31064953 [GRCh38]
Chr8:30922469 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1074T>G (p.Asp358Glu) single nucleotide variant Werner syndrome [RCV000806106] Chr8:31081101 [GRCh38]
Chr8:30938617 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1124A>C (p.Glu375Ala) single nucleotide variant Werner syndrome [RCV000559585] Chr8:31081151 [GRCh38]
Chr8:30938667 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.588C>A (p.Arg196=) single nucleotide variant Werner syndrome [RCV000557118] Chr8:31067116 [GRCh38]
Chr8:30924632 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1448A>G (p.Asn483Ser) single nucleotide variant Werner syndrome [RCV000557174] Chr8:31087792 [GRCh38]
Chr8:30945308 [GRCh37]
Chr8:8p12		 uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_000553.6(WRN):c.3517G>T (p.Val1173Phe) single nucleotide variant Werner syndrome [RCV000537444] Chr8:31147421 [GRCh38]
Chr8:31004937 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.436A>C (p.Lys146Gln) single nucleotide variant Werner syndrome [RCV000539380] Chr8:31064995 [GRCh38]
Chr8:30922511 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3100T>C (p.Tyr1034His) single nucleotide variant Werner syndrome [RCV000535084]|not provided [RCV001764538] Chr8:31141562 [GRCh38]
Chr8:30999078 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.210-1G>A single nucleotide variant Werner syndrome [RCV000537557] Chr8:31064288 [GRCh38]
Chr8:30921804 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2522C>T (p.Ala841Val) single nucleotide variant Werner syndrome [RCV000560064] Chr8:31120316 [GRCh38]
Chr8:30977832 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.504+4A>G single nucleotide variant not provided [RCV000733291] Chr8:31065067 [GRCh38]
Chr8:30922583 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3984T>C (p.Asp1328=) single nucleotide variant Werner syndrome [RCV000560263] Chr8:31167023 [GRCh38]
Chr8:31024539 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.197C>T (p.Ser66Leu) single nucleotide variant Werner syndrome [RCV000560389] Chr8:31059253 [GRCh38]
Chr8:30916769 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3642T>C (p.Pro1214=) single nucleotide variant Werner syndrome [RCV000539595] Chr8:31150410 [GRCh38]
Chr8:31007926 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1604A>T (p.Glu535Val) single nucleotide variant Werner syndrome [RCV000539789] Chr8:31088917 [GRCh38]
Chr8:30946433 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2162G>C (p.Arg721Thr) single nucleotide variant Werner syndrome [RCV000540355] Chr8:31111688 [GRCh38]
Chr8:30969204 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1565A>G (p.Asp522Gly) single nucleotide variant Werner syndrome [RCV000535593] Chr8:31087909 [GRCh38]
Chr8:30945425 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2592T>G (p.Cys864Trp) single nucleotide variant Werner syndrome [RCV000538116] Chr8:31120386 [GRCh38]
Chr8:30977902 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3584T>C (p.Val1195Ala) single nucleotide variant Werner syndrome [RCV000535951] Chr8:31150352 [GRCh38]
Chr8:31007868 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1302G>A (p.Thr434=) single nucleotide variant WRN-related disorder [RCV003942744]|Werner syndrome [RCV000558517] Chr8:31083731 [GRCh38]
Chr8:30941247 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.834_835delinsTT (p.Arg279Trp) indel Werner syndrome [RCV000540807] Chr8:31076282..31076283 [GRCh38]
Chr8:30933798..30933799 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2715T>C (p.Ser905=) single nucleotide variant Werner syndrome [RCV000540864] Chr8:31124606 [GRCh38]
Chr8:30982122 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3494A>G (p.Gln1165Arg) single nucleotide variant Werner syndrome [RCV000558969] Chr8:31147398 [GRCh38]
Chr8:31004914 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.327T>A (p.Cys109Ter) single nucleotide variant Werner syndrome [RCV000538668] Chr8:31064406 [GRCh38]
Chr8:30921922 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) duplication Werner syndrome [RCV000556275] Chr8:31147072..31147073 [GRCh38]
Chr8:31004588..31004589 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2098G>A (p.Val700Ile) single nucleotide variant Inborn genetic diseases [RCV004023785]|Werner syndrome [RCV000559084] Chr8:31111624 [GRCh38]
Chr8:30969140 [GRCh37]
Chr8:8p12		 uncertain significance
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p12(chr8:30928145-31026440)x3 copy number gain See cases [RCV000446412] Chr8:30928145..31026440 [GRCh37]
Chr8:8p12		 likely benign
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
NM_000553.6(WRN):c.2215G>A (p.Val739Ile) single nucleotide variant Werner syndrome [RCV000553764] Chr8:31111741 [GRCh38]
Chr8:30969257 [GRCh37]
Chr8:8p12		 uncertain significance
GRCh37/hg19 8p12(chr8:30959469-30984173)x1 copy number loss See cases [RCV000448816] Chr8:30959469..30984173 [GRCh37]
Chr8:8p12		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12		 pathogenic
NM_000553.6(WRN):c.1982G>A (p.Gly661Asp) single nucleotide variant Werner syndrome [RCV000462742] Chr8:31100849 [GRCh38]
Chr8:30958365 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.132C>A (p.Leu44=) single nucleotide variant Werner syndrome [RCV001397035] Chr8:31059188 [GRCh38]
Chr8:30916704 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2850T>G (p.Asp950Glu) single nucleotide variant Werner syndrome [RCV000456868] Chr8:31132389 [GRCh38]
Chr8:30989905 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val) single nucleotide variant Ovarian cancer [RCV003153572]|Werner syndrome [RCV000462991] Chr8:31157441 [GRCh38]
Chr8:31014957 [GRCh37]
Chr8:8p12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1270-4A>G single nucleotide variant Werner syndrome [RCV001459446] Chr8:31083695 [GRCh38]
Chr8:30941211 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1383G>A (p.Thr461=) single nucleotide variant WRN-related disorder [RCV003902657]|Werner syndrome [RCV000466908]|not specified [RCV001821302] Chr8:31085198 [GRCh38]
Chr8:30942714 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3283C>T (p.Pro1095Ser) single nucleotide variant Werner syndrome [RCV000470475] Chr8:31142675 [GRCh38]
Chr8:31000191 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.725-9T>C single nucleotide variant Werner syndrome [RCV001417439] Chr8:31076164 [GRCh38]
Chr8:30933680 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2158C>G (p.Leu720Val) single nucleotide variant Werner syndrome [RCV000460879] Chr8:31111684 [GRCh38]
Chr8:30969200 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2450G>C (p.Cys817Ser) single nucleotide variant Werner syndrome [RCV000459444] Chr8:31120244 [GRCh38]
Chr8:30977760 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1717A>C (p.Thr573Pro) single nucleotide variant Werner syndrome [RCV000459455] Chr8:31090529 [GRCh38]
Chr8:30948045 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3335A>G (p.Tyr1112Cys) single nucleotide variant Werner syndrome [RCV000459528] Chr8:31143575 [GRCh38]
Chr8:31001091 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4148C>G (p.Ser1383Ter) single nucleotide variant Werner syndrome [RCV000463264] Chr8:31167187 [GRCh38]
Chr8:31024703 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.998T>G (p.Ile333Ser) single nucleotide variant WRN-related disorder [RCV004748765]|Werner syndrome [RCV000466961] Chr8:31081025 [GRCh38]
Chr8:30938541 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3859A>G (p.Ile1287Val) single nucleotide variant Werner syndrome [RCV000470620] Chr8:31157407 [GRCh38]
Chr8:31014923 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.504+7G>A single nucleotide variant Werner syndrome [RCV000474432] Chr8:31065070 [GRCh38]
Chr8:30922586 [GRCh37]
Chr8:8p12		 likely benign
NC_000008.11:g.(?_31150341)_(31157530_?)del deletion Werner syndrome [RCV000474572] Chr8:31150341..31157530 [GRCh38]
Chr8:31007857..31015046 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.444A>G (p.Leu148=) single nucleotide variant Werner syndrome [RCV000465034] Chr8:31065003 [GRCh38]
Chr8:30922519 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1431+5G>A single nucleotide variant Werner syndrome [RCV000459680] Chr8:31085251 [GRCh38]
Chr8:30942767 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.744C>T (p.Ser248=) single nucleotide variant Werner syndrome [RCV000459693]|not provided [RCV003437209] Chr8:31076192 [GRCh38]
Chr8:30933708 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2294G>A (p.Gly765Asp) single nucleotide variant Werner syndrome [RCV000463399] Chr8:31116374 [GRCh38]
Chr8:30973890 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1162G>A (p.Glu388Lys) single nucleotide variant Werner syndrome [RCV000463448] Chr8:31081189 [GRCh38]
Chr8:30938705 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2689G>T (p.Ala897Ser) single nucleotide variant Werner syndrome [RCV000467238] Chr8:31124580 [GRCh38]
Chr8:30982096 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.847A>T (p.Ile283Phe) single nucleotide variant Werner syndrome [RCV000467335] Chr8:31080874 [GRCh38]
Chr8:30938390 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.210-10C>A single nucleotide variant Werner syndrome [RCV000470916] Chr8:31064279 [GRCh38]
Chr8:30921795 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4125T>C (p.Phe1375=) single nucleotide variant Werner syndrome [RCV000470961] Chr8:31167164 [GRCh38]
Chr8:31024680 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1898+2T>G single nucleotide variant Werner syndrome [RCV000471062]|not provided [RCV004597802] Chr8:31091900 [GRCh38]
Chr8:30949416 [GRCh37]
Chr8:8p12		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.2052C>T (p.Phe684=) single nucleotide variant Werner syndrome [RCV000474797] Chr8:31100919 [GRCh38]
Chr8:30958435 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) single nucleotide variant Werner syndrome [RCV000456191]|not provided [RCV001580038] Chr8:31124556 [GRCh38]
Chr8:30982072 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.1382C>T (p.Thr461Met) single nucleotide variant Ovarian cancer [RCV003153573]|Werner syndrome [RCV000456237] Chr8:31085197 [GRCh38]
Chr8:30942713 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3460-6del deletion Werner syndrome [RCV000456246] Chr8:31147358 [GRCh38]
Chr8:31004874 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4055T>C (p.Ile1352Thr) single nucleotide variant Werner syndrome [RCV000459882] Chr8:31167094 [GRCh38]
Chr8:31024610 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.903G>A (p.Gly301=) single nucleotide variant Werner syndrome [RCV001086619] Chr8:31080930 [GRCh38]
Chr8:30938446 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.4027A>G (p.Ile1343Val) single nucleotide variant Werner syndrome [RCV000467537] Chr8:31167066 [GRCh38]
Chr8:31024582 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3472G>T (p.Gly1158Cys) single nucleotide variant Werner syndrome [RCV000471157] Chr8:31147376 [GRCh38]
Chr8:31004892 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2012A>G (p.His671Arg) single nucleotide variant Werner syndrome [RCV000471180] Chr8:31100879 [GRCh38]
Chr8:30958395 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2256A>G (p.Pro752=) single nucleotide variant Werner syndrome [RCV000474909]|not provided [RCV003884549] Chr8:31111782 [GRCh38]
Chr8:30969298 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.1301C>T (p.Thr434Met) single nucleotide variant Werner syndrome [RCV000456501] Chr8:31083730 [GRCh38]
Chr8:30941246 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1217A>C (p.Glu406Ala) single nucleotide variant Werner syndrome [RCV000460173] Chr8:31081244 [GRCh38]
Chr8:30938760 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.488A>T (p.Asp163Val) single nucleotide variant Werner syndrome [RCV000460262] Chr8:31065047 [GRCh38]
Chr8:30922563 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2543A>G (p.Tyr848Cys) single nucleotide variant Werner syndrome [RCV000463979] Chr8:31120337 [GRCh38]
Chr8:30977853 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1769A>G (p.Lys590Arg) single nucleotide variant Werner syndrome [RCV000467620] Chr8:31090882 [GRCh38]
Chr8:30948398 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1531G>C (p.Asp511His) single nucleotide variant WRN-related disorder [RCV003942469]|Werner syndrome [RCV000471405] Chr8:31087875 [GRCh38]
Chr8:30945391 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4280G>C (p.Arg1427Thr) single nucleotide variant Werner syndrome [RCV000475184]|not provided [RCV004760494] Chr8:31173083 [GRCh38]
Chr8:31030599 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.138C>G (p.Phe46Leu) single nucleotide variant Werner syndrome [RCV000460346] Chr8:31059194 [GRCh38]
Chr8:30916710 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu) single nucleotide variant Werner syndrome [RCV000464118]|not provided [RCV002510900] Chr8:31081208 [GRCh38]
Chr8:30938724 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1256A>G (p.Tyr419Cys) single nucleotide variant Werner syndrome [RCV000464131] Chr8:31081283 [GRCh38]
Chr8:30938799 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4191+5T>C single nucleotide variant Werner syndrome [RCV000467860] Chr8:31167235 [GRCh38]
Chr8:31024751 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3284C>T (p.Pro1095Leu) single nucleotide variant Werner syndrome [RCV000471725] Chr8:31142676 [GRCh38]
Chr8:31000192 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2146C>T (p.Arg716Cys) single nucleotide variant WRN-related disorder [RCV004748767]|Werner syndrome [RCV000475450] Chr8:31111672 [GRCh38]
Chr8:30969188 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3604G>A (p.Asp1202Asn) single nucleotide variant Werner syndrome [RCV000475564] Chr8:31150372 [GRCh38]
Chr8:31007888 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2192A>C (p.Asp731Ala) single nucleotide variant Werner syndrome [RCV000456916] Chr8:31111718 [GRCh38]
Chr8:30969234 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1798T>C (p.Ser600Pro) single nucleotide variant Werner syndrome [RCV000460558] Chr8:31090911 [GRCh38]
Chr8:30948427 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.666T>C (p.Ile222=) single nucleotide variant Werner syndrome [RCV000460651] Chr8:31068269 [GRCh38]
Chr8:30925785 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3288T>A (p.Val1096=) single nucleotide variant Werner syndrome [RCV000460758] Chr8:31142680 [GRCh38]
Chr8:31000196 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3059G>A (p.Arg1020His) single nucleotide variant WRN-related disorder [RCV003972753]|Werner syndrome [RCV000468223] Chr8:31141521 [GRCh38]
Chr8:30999037 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3001C>T (p.His1001Tyr) single nucleotide variant Werner syndrome [RCV000472035] Chr8:31141463 [GRCh38]
Chr8:30998979 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3900C>A (p.Pro1300=) single nucleotide variant Werner syndrome [RCV000475640]|not provided [RCV001579420]|not specified [RCV000502949] Chr8:31157448 [GRCh38]
Chr8:31014964 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.1920C>T (p.Tyr640=) single nucleotide variant WRN-related disorder [RCV003902656]|Werner syndrome [RCV000457146] Chr8:31096789 [GRCh38]
Chr8:30954305 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3460-9T>C single nucleotide variant Werner syndrome [RCV000457183] Chr8:31147355 [GRCh38]
Chr8:31004871 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1171T>G (p.Cys391Gly) single nucleotide variant Werner syndrome [RCV000460793] Chr8:31081198 [GRCh38]
Chr8:30938714 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.427G>A (p.Asp143Asn) single nucleotide variant Werner syndrome [RCV000464757] Chr8:31064986 [GRCh38]
Chr8:30922502 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1182G>A (p.Ser394=) single nucleotide variant Werner syndrome [RCV000468360] Chr8:31081209 [GRCh38]
Chr8:30938725 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2784A>G (p.Gly928=) single nucleotide variant Werner syndrome [RCV001409017]|not provided [RCV000730682] Chr8:31124959 [GRCh38]
Chr8:30982475 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.2149T>C (p.Cys717Arg) single nucleotide variant Werner syndrome [RCV000461270] Chr8:31111675 [GRCh38]
Chr8:30969191 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4191+7A>G single nucleotide variant Werner syndrome [RCV000464886] Chr8:31167237 [GRCh38]
Chr8:31024753 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3713C>T (p.Pro1238Leu) single nucleotide variant Werner syndrome [RCV000468613] Chr8:31154649 [GRCh38]
Chr8:31012165 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2996G>A (p.Arg999His) single nucleotide variant Werner syndrome [RCV000472316] Chr8:31141458 [GRCh38]
Chr8:30998974 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.502_503del (p.Lys168fs) deletion Werner syndrome [RCV000472438] Chr8:31065058..31065059 [GRCh38]
Chr8:30922574..30922575 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2571T>C (p.Arg857=) single nucleotide variant WRN-related disorder [RCV003970294]|Werner syndrome [RCV000476176] Chr8:31120365 [GRCh38]
Chr8:30977881 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2217T>C (p.Val739=) single nucleotide variant Werner syndrome [RCV001438036] Chr8:31111743 [GRCh38]
Chr8:30969259 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4018C>T (p.Pro1340Ser) single nucleotide variant Werner syndrome [RCV000457589]|not provided [RCV001753860] Chr8:31167057 [GRCh38]
Chr8:31024573 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3555G>T (p.Val1185=) single nucleotide variant Werner syndrome [RCV001479981] Chr8:31147459 [GRCh38]
Chr8:31004975 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1840A>G (p.Ile614Val) single nucleotide variant Inborn genetic diseases [RCV002522763]|Werner syndrome [RCV000468774] Chr8:31091840 [GRCh38]
Chr8:30949356 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1081G>T (p.Asp361Tyr) single nucleotide variant Werner syndrome [RCV000472561] Chr8:31081108 [GRCh38]
Chr8:30938624 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1922T>A (p.Val641Glu) single nucleotide variant Werner syndrome [RCV000472604] Chr8:31096791 [GRCh38]
Chr8:30954307 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1199A>G (p.His400Arg) single nucleotide variant Werner syndrome [RCV000457881] Chr8:31081226 [GRCh38]
Chr8:30938742 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.538C>T (p.Leu180=) single nucleotide variant Werner syndrome [RCV000461581] Chr8:31067066 [GRCh38]
Chr8:30924582 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4099_4100inv (p.Cys1367His) inversion Werner syndrome [RCV000461684] Chr8:31167138..31167139 [GRCh38]
Chr8:31024654..31024655 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.527G>T (p.Ser176Ile) single nucleotide variant Werner syndrome [RCV000465306] Chr8:31067055 [GRCh38]
Chr8:30924571 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.674G>A (p.Arg225Gln) single nucleotide variant Werner syndrome [RCV000465492] Chr8:31068277 [GRCh38]
Chr8:30925793 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2947A>G (p.Ile983Val) single nucleotide variant Werner syndrome [RCV000469151] Chr8:31132486 [GRCh38]
Chr8:30990002 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3162T>C (p.Ala1054=) single nucleotide variant Werner syndrome [RCV000469169] Chr8:31141704 [GRCh38]
Chr8:30999220 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.1426C>T (p.Leu476Phe) single nucleotide variant Werner syndrome [RCV000469189] Chr8:31085241 [GRCh38]
Chr8:30942757 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1901G>A (p.Gly634Asp) single nucleotide variant Inborn genetic diseases [RCV003168727]|Werner syndrome [RCV000472837] Chr8:31096770 [GRCh38]
Chr8:30954286 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.548A>G (p.His183Arg) single nucleotide variant Inborn genetic diseases [RCV004023786]|Werner syndrome [RCV000531682] Chr8:31067076 [GRCh38]
Chr8:30924592 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1271A>G (p.His424Arg) single nucleotide variant Werner syndrome [RCV000461760] Chr8:31083700 [GRCh38]
Chr8:30941216 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3383+5A>C single nucleotide variant Werner syndrome [RCV000465573]|not provided [RCV000594507] Chr8:31143628 [GRCh38]
Chr8:31001144 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1350+3A>G single nucleotide variant WRN-related disorder [RCV003392287]|Werner syndrome [RCV000465749] Chr8:31083782 [GRCh38]
Chr8:30941298 [GRCh37]
Chr8:8p12		 benign|likely benign|uncertain significance
NM_000553.6(WRN):c.1652+4A>C single nucleotide variant Werner syndrome [RCV000473105] Chr8:31088969 [GRCh38]
Chr8:30946485 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3365G>A (p.Ser1122Asn) single nucleotide variant Werner syndrome [RCV000473129] Chr8:31143605 [GRCh38]
Chr8:31001121 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2967+9A>T single nucleotide variant Werner syndrome [RCV000458257] Chr8:31132515 [GRCh38]
Chr8:30990031 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.436A>G (p.Lys146Glu) single nucleotide variant WRN-related disorder [RCV004748766]|Werner syndrome [RCV000458348] Chr8:31064995 [GRCh38]
Chr8:30922511 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3134A>G (p.Lys1045Arg) single nucleotide variant Inborn genetic diseases [RCV002522761]|Werner syndrome [RCV000462027]|not provided [RCV001770297] Chr8:31141596 [GRCh38]
Chr8:30999112 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.841G>T (p.Val281Phe) single nucleotide variant Werner syndrome [RCV000465809] Chr8:31080868 [GRCh38]
Chr8:30938384 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.742A>G (p.Ser248Gly) single nucleotide variant Werner syndrome [RCV000465858] Chr8:31076190 [GRCh38]
Chr8:30933706 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.579G>A (p.Lys193=) single nucleotide variant Werner syndrome [RCV000465975] Chr8:31067107 [GRCh38]
Chr8:30924623 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2944C>T (p.Pro982Ser) single nucleotide variant Werner syndrome [RCV000469532] Chr8:31132483 [GRCh38]
Chr8:30989999 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1518AGA[6] (p.Glu510dup) microsatellite Werner syndrome [RCV000473375] Chr8:31087860..31087861 [GRCh38]
Chr8:30945376..30945377 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.349A>G (p.Met117Val) single nucleotide variant Werner syndrome [RCV000473389] Chr8:31064428 [GRCh38]
Chr8:30921944 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1606C>G (p.Gln536Glu) single nucleotide variant Werner syndrome [RCV000477082] Chr8:31088919 [GRCh38]
Chr8:30946435 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2995C>T (p.Arg999Cys) single nucleotide variant Werner syndrome [RCV000477142] Chr8:31141457 [GRCh38]
Chr8:30998973 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1276T>C (p.Ser426Pro) single nucleotide variant Werner syndrome [RCV000477151] Chr8:31083705 [GRCh38]
Chr8:30941221 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1505G>T (p.Gly502Val) single nucleotide variant Inborn genetic diseases [RCV002522762]|WRN-related disorder [RCV003970271]|Werner syndrome [RCV000477187] Chr8:31087849 [GRCh38]
Chr8:30945365 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.487G>T (p.Asp163Tyr) single nucleotide variant Werner syndrome [RCV000462417] Chr8:31065046 [GRCh38]
Chr8:30922562 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1665A>C (p.Lys555Asn) single nucleotide variant Werner syndrome [RCV000466022] Chr8:31090477 [GRCh38]
Chr8:30947993 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3687+6A>G single nucleotide variant Werner syndrome [RCV000466245] Chr8:31150461 [GRCh38]
Chr8:31007977 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.755A>G (p.Lys252Arg) single nucleotide variant Werner syndrome [RCV000469781] Chr8:31076203 [GRCh38]
Chr8:30933719 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2985C>T (p.Ala995=) single nucleotide variant Werner syndrome [RCV000469843] Chr8:31141447 [GRCh38]
Chr8:30998963 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) single nucleotide variant WRN-related disorder [RCV003418150]|Werner syndrome [RCV000473494] Chr8:31068276 [GRCh38]
Chr8:30925792 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2747A>C (p.His916Pro) single nucleotide variant Werner syndrome [RCV000477383]|not provided [RCV004722757]|not specified [RCV001821223] Chr8:31124922 [GRCh38]
Chr8:30982438 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1882C>A (p.Leu628Ile) single nucleotide variant Werner syndrome [RCV000458662]|not provided [RCV003237847] Chr8:31091882 [GRCh38]
Chr8:30949398 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2631-5G>A single nucleotide variant Werner syndrome [RCV002063671] Chr8:31124517 [GRCh38]
Chr8:30982033 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.130C>G (p.Leu44Val) single nucleotide variant Werner syndrome [RCV000470096]|not provided [RCV001591059] Chr8:31059186 [GRCh38]
Chr8:30916702 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1989G>A (p.Thr663=) single nucleotide variant Werner syndrome [RCV000473705]|not provided [RCV003437210] Chr8:31100856 [GRCh38]
Chr8:30958372 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2716A>G (p.Ser906Gly) single nucleotide variant Inborn genetic diseases [RCV002526382]|Werner syndrome [RCV000477510]|not provided [RCV003128800] Chr8:31124607 [GRCh38]
Chr8:30982123 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.350T>C (p.Met117Thr) single nucleotide variant Werner syndrome [RCV000477589] Chr8:31064429 [GRCh38]
Chr8:30921945 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3880G>A (p.Ala1294Thr) single nucleotide variant Werner syndrome [RCV000531638] Chr8:31157428 [GRCh38]
Chr8:31014944 [GRCh37]
Chr8:8p12		 uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
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 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_000553.6(WRN):c.1856T>C (p.Leu619Pro) single nucleotide variant Werner syndrome [RCV000698839] Chr8:31091856 [GRCh38]
Chr8:30949372 [GRCh37]
Chr8:8p12		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 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
NM_000553.6(WRN):c.4116_4118del (p.Arg1373del) deletion Werner syndrome [RCV001202644] Chr8:31167153..31167155 [GRCh38]
Chr8:31024669..31024671 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter) single nucleotide variant Werner syndrome [RCV000633177] Chr8:31111747 [GRCh38]
Chr8:30969263 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.16T>A (p.Leu6Met) single nucleotide variant Werner syndrome [RCV000633182] Chr8:31058463 [GRCh38]
Chr8:30915979 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1451G>T (p.Ser484Ile) single nucleotide variant WRN-related disorder [RCV003892427]|Werner syndrome [RCV000633183] Chr8:31087795 [GRCh38]
Chr8:30945311 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.573_575del (p.Lys191_Asp192delinsAsn) deletion Werner syndrome [RCV000633185] Chr8:31067100..31067102 [GRCh38]
Chr8:30924616..30924618 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3580A>G (p.Thr1194Ala) single nucleotide variant Werner syndrome [RCV000633186] Chr8:31150348 [GRCh38]
Chr8:31007864 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.445C>T (p.Arg149Cys) single nucleotide variant Werner syndrome [RCV000633187] Chr8:31065004 [GRCh38]
Chr8:30922520 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3578C>A (p.Thr1193Asn) single nucleotide variant Werner syndrome [RCV000633188] Chr8:31150346 [GRCh38]
Chr8:31007862 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2371T>G (p.Cys791Gly) single nucleotide variant Werner syndrome [RCV000633189]|not specified [RCV001821792] Chr8:31116451 [GRCh38]
Chr8:30973967 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4129G>A (p.Gly1377Ser) single nucleotide variant Werner syndrome [RCV000633191] Chr8:31167168 [GRCh38]
Chr8:31024684 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.835C>T (p.Arg279Trp) single nucleotide variant Inborn genetic diseases [RCV004025425]|Werner syndrome [RCV000633192] Chr8:31076283 [GRCh38]
Chr8:30933799 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.97-6C>G single nucleotide variant Werner syndrome [RCV000633193] Chr8:31059147 [GRCh38]
Chr8:30916663 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.839+3T>C single nucleotide variant Werner syndrome [RCV000633194] Chr8:31076290 [GRCh38]
Chr8:30933806 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1379A>G (p.Asp460Gly) single nucleotide variant Werner syndrome [RCV000633199] Chr8:31085194 [GRCh38]
Chr8:30942710 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1830-3T>C single nucleotide variant WRN-related disorder [RCV003892428]|Werner syndrome [RCV000633200] Chr8:31091827 [GRCh38]
Chr8:30949343 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.977G>A (p.Gly326Glu) single nucleotide variant Inborn genetic diseases [RCV002528862]|Werner syndrome [RCV000633201] Chr8:31081004 [GRCh38]
Chr8:30938520 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.82G>C (p.Val28Leu) single nucleotide variant Werner syndrome [RCV000633202] Chr8:31058529 [GRCh38]
Chr8:30916045 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4126C>T (p.Pro1376Ser) single nucleotide variant Inborn genetic diseases [RCV002533183]|Werner syndrome [RCV000633203] Chr8:31167165 [GRCh38]
Chr8:31024681 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.187T>C (p.Ser63Pro) single nucleotide variant Werner syndrome [RCV000633227] Chr8:31059243 [GRCh38]
Chr8:30916759 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2773G>T (p.Ala925Ser) single nucleotide variant Werner syndrome [RCV000633237] Chr8:31124948 [GRCh38]
Chr8:30982464 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.77G>A (p.Cys26Tyr) single nucleotide variant Werner syndrome [RCV000633238] Chr8:31058524 [GRCh38]
Chr8:30916040 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2635CTT[1] (p.Leu880del) microsatellite Werner syndrome [RCV000633240] Chr8:31124526..31124528 [GRCh38]
Chr8:30982042..30982044 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2631G>T (p.Arg877Ser) single nucleotide variant Werner syndrome [RCV000633244] Chr8:31124522 [GRCh38]
Chr8:30982038 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3986T>C (p.Met1329Thr) single nucleotide variant Werner syndrome [RCV000633245] Chr8:31167025 [GRCh38]
Chr8:31024541 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.685A>G (p.Ile229Val) single nucleotide variant Werner syndrome [RCV000633246] Chr8:31068288 [GRCh38]
Chr8:30925804 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1168G>C (p.Ala390Pro) single nucleotide variant Werner syndrome [RCV000633250] Chr8:31081195 [GRCh38]
Chr8:30938711 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2088+4A>T single nucleotide variant Werner syndrome [RCV000633251] Chr8:31100959 [GRCh38]
Chr8:30958475 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1432-4del deletion Werner syndrome [RCV000633262] Chr8:31087770 [GRCh38]
Chr8:30945286 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.670T>A (p.Tyr224Asn) single nucleotide variant Werner syndrome [RCV000633267] Chr8:31068273 [GRCh38]
Chr8:30925789 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1324G>A (p.Glu442Lys) single nucleotide variant Werner syndrome [RCV000633268] Chr8:31083753 [GRCh38]
Chr8:30941269 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3205T>C (p.Leu1069=) single nucleotide variant WRN-related disorder [RCV003892429]|Werner syndrome [RCV000633269] Chr8:31141747 [GRCh38]
Chr8:30999263 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3057C>G (p.Ser1019=) single nucleotide variant Werner syndrome [RCV000633271] Chr8:31141519 [GRCh38]
Chr8:30999035 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1269+9T>G single nucleotide variant Werner syndrome [RCV000633273] Chr8:31081305 [GRCh38]
Chr8:30938821 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2031G>A (p.Gly677=) single nucleotide variant Werner syndrome [RCV000633274] Chr8:31100898 [GRCh38]
Chr8:30958414 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3897C>T (p.Cys1299=) single nucleotide variant Werner syndrome [RCV000633277] Chr8:31157445 [GRCh38]
Chr8:31014961 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1194A>G (p.Thr398=) single nucleotide variant Werner syndrome [RCV000633278] Chr8:31081221 [GRCh38]
Chr8:30938737 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3983-9C>T single nucleotide variant Werner syndrome [RCV000633279] Chr8:31167013 [GRCh38]
Chr8:31024529 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3021C>A (p.Gly1007=) single nucleotide variant WRN-related disorder [RCV003935766]|Werner syndrome [RCV000633281] Chr8:31141483 [GRCh38]
Chr8:30998999 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2733-4del deletion Werner syndrome [RCV000633282] Chr8:31124902 [GRCh38]
Chr8:30982418 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2274-7T>C single nucleotide variant WRN-related disorder [RCV003892430]|Werner syndrome [RCV000633283] Chr8:31116347 [GRCh38]
Chr8:30973863 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2724T>C (p.Cys908=) single nucleotide variant Werner syndrome [RCV000633284] Chr8:31124615 [GRCh38]
Chr8:30982131 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3591C>T (p.Asn1197=) single nucleotide variant Werner syndrome [RCV000633287]|not provided [RCV003437341] Chr8:31150359 [GRCh38]
Chr8:31007875 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2742G>A (p.Leu914=) single nucleotide variant Werner syndrome [RCV000633291] Chr8:31124917 [GRCh38]
Chr8:30982433 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.486A>G (p.Thr162=) single nucleotide variant Werner syndrome [RCV002060720] Chr8:31065045 [GRCh38]
Chr8:30922561 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1341G>A (p.Glu447=) single nucleotide variant Werner syndrome [RCV000633293]|not provided [RCV003437342] Chr8:31083770 [GRCh38]
Chr8:30941286 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.738A>C (p.Leu246=) single nucleotide variant Werner syndrome [RCV000633294] Chr8:31076186 [GRCh38]
Chr8:30933702 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2448+8G>A single nucleotide variant Werner syndrome [RCV000633295] Chr8:31116536 [GRCh38]
Chr8:30974052 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2630+10dup duplication Werner syndrome [RCV000633296] Chr8:31120426..31120427 [GRCh38]
Chr8:30977942..30977943 [GRCh37]
Chr8:8p12		 benign|likely benign
NM_000553.6(WRN):c.505-4C>G single nucleotide variant Werner syndrome [RCV000633297] Chr8:31067029 [GRCh38]
Chr8:30924545 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3780C>T (p.Ala1260=) single nucleotide variant Werner syndrome [RCV000633298] Chr8:31154716 [GRCh38]
Chr8:31012232 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3588A>G (p.Glu1196=) single nucleotide variant WRN-related disorder [RCV003935767]|Werner syndrome [RCV000633299] Chr8:31150356 [GRCh38]
Chr8:31007872 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3123C>T (p.Cys1041=) single nucleotide variant Werner syndrome [RCV000633300]|not provided [RCV003437343] Chr8:31141585 [GRCh38]
Chr8:30999101 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.725-4C>T single nucleotide variant Werner syndrome [RCV000633301] Chr8:31076169 [GRCh38]
Chr8:30933685 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4200T>G (p.Ser1400=) single nucleotide variant Werner syndrome [RCV000633302] Chr8:31173003 [GRCh38]
Chr8:31030519 [GRCh37]
Chr8:8p12		 likely benign
NC_000008.11:g.(?_31150335)_(31167236_?)del deletion Werner syndrome [RCV000633303] Chr8:31150335..31167236 [GRCh38]
Chr8:31007851..31024752 [GRCh37]
Chr8:8p12		 likely pathogenic
NC_000008.10:g.(?_30915958)_(31030624_?)dup duplication Werner syndrome [RCV000633304] Chr8:31058442..31173108 [GRCh38]
Chr8:30915958..31030624 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3438G>A (p.Ser1146=) single nucleotide variant WRN-related disorder [RCV004748813]|Werner syndrome [RCV000533252] Chr8:31147107 [GRCh38]
Chr8:31004623 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.2825G>C (p.Arg942Thr) single nucleotide variant Werner syndrome [RCV000555723] Chr8:31125000 [GRCh38]
Chr8:30982516 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3304AAG[1] (p.Lys1103del) microsatellite Werner syndrome [RCV000541756] Chr8:31142694..31142696 [GRCh38]
Chr8:31000210..31000212 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2631-6C>T single nucleotide variant Werner syndrome [RCV000556077] Chr8:31124516 [GRCh38]
Chr8:30982032 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.172G>A (p.Asp58Asn) single nucleotide variant Ovarian cancer [RCV003153686]|Werner syndrome [RCV000538283] Chr8:31059228 [GRCh38]
Chr8:30916744 [GRCh37]
Chr8:8p12		 benign|uncertain significance
NM_000553.6(WRN):c.654+4C>T single nucleotide variant WRN-related disorder [RCV003979952]|Werner syndrome [RCV000560828]|not provided [RCV001755811] Chr8:31067186 [GRCh38]
Chr8:30924702 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.2390G>A (p.Gly797Asp) single nucleotide variant Werner syndrome [RCV000556444] Chr8:31116470 [GRCh38]
Chr8:30973986 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2175C>T (p.Ile725=) single nucleotide variant Werner syndrome [RCV001434459] Chr8:31111701 [GRCh38]
Chr8:30969217 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2556T>A (p.Ile852=) single nucleotide variant Werner syndrome [RCV000534472] Chr8:31120350 [GRCh38]
Chr8:30977866 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2422C>T (p.His808Tyr) single nucleotide variant Werner syndrome [RCV000534910] Chr8:31116502 [GRCh38]
Chr8:30974018 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.613C>G (p.Leu205Val) single nucleotide variant WRN-related disorder [RCV004748814]|Werner syndrome [RCV000535386] Chr8:31067141 [GRCh38]
Chr8:30924657 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3037_3038del (p.Ser1013fs) microsatellite Werner syndrome [RCV000535445] Chr8:31141495..31141496 [GRCh38]
Chr8:30999011..30999012 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3582G>T (p.Thr1194=) single nucleotide variant Werner syndrome [RCV000558067] Chr8:31150350 [GRCh38]
Chr8:31007866 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2967+2dup duplication Werner syndrome [RCV000536918] Chr8:31132507..31132508 [GRCh38]
Chr8:30990023..30990024 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2081T>C (p.Leu694Pro) single nucleotide variant Werner syndrome [RCV000559439] Chr8:31100948 [GRCh38]
Chr8:30958464 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1038A>G (p.Thr346=) single nucleotide variant Werner syndrome [RCV000540951] Chr8:31081065 [GRCh38]
Chr8:30938581 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2630+9A>T single nucleotide variant Werner syndrome [RCV000541222] Chr8:31120433 [GRCh38]
Chr8:30977949 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3383+8G>C single nucleotide variant Werner syndrome [RCV001475498] Chr8:31143631 [GRCh38]
Chr8:31001147 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4001T>G (p.Leu1334Arg) single nucleotide variant Werner syndrome [RCV000534016]|not provided [RCV003237897] Chr8:31167040 [GRCh38]
Chr8:31024556 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3000G>A (p.Arg1000=) single nucleotide variant Werner syndrome [RCV000556978] Chr8:31141462 [GRCh38]
Chr8:30998978 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.654T>C (p.Tyr218=) single nucleotide variant Werner syndrome [RCV000534605] Chr8:31067182 [GRCh38]
Chr8:30924698 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2666G>A (p.Arg889Gln) single nucleotide variant Werner syndrome [RCV000633174] Chr8:31124557 [GRCh38]
Chr8:30982073 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4193C>T (p.Thr1398Ile) single nucleotide variant Werner syndrome [RCV000633175] Chr8:31172996 [GRCh38]
Chr8:31030512 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3011T>C (p.Phe1004Ser) single nucleotide variant Werner syndrome [RCV000633176] Chr8:31141473 [GRCh38]
Chr8:30998989 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.522_523dup (p.Trp175fs) duplication Werner syndrome [RCV000633178] Chr8:31067049..31067050 [GRCh38]
Chr8:30924565..30924566 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2505A>C (p.Gln835His) single nucleotide variant Werner syndrome [RCV000633196] Chr8:31120299 [GRCh38]
Chr8:30977815 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.725-6C>T single nucleotide variant Werner syndrome [RCV000633204] Chr8:31076167 [GRCh38]
Chr8:30933683 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1178T>C (p.Met393Thr) single nucleotide variant Werner syndrome [RCV000633205] Chr8:31081205 [GRCh38]
Chr8:30938721 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4229G>T (p.Trp1410Leu) single nucleotide variant Werner syndrome [RCV000633206] Chr8:31173032 [GRCh38]
Chr8:31030548 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1159A>G (p.Met387Val) single nucleotide variant Werner syndrome [RCV000633223] Chr8:31081186 [GRCh38]
Chr8:30938702 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4054A>G (p.Ile1352Val) single nucleotide variant Werner syndrome [RCV000633224] Chr8:31167093 [GRCh38]
Chr8:31024609 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3700T>G (p.Ser1234Ala) single nucleotide variant Werner syndrome [RCV000633225] Chr8:31154636 [GRCh38]
Chr8:31012152 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4217G>A (p.Arg1406Gln) single nucleotide variant Werner syndrome [RCV000633226] Chr8:31173020 [GRCh38]
Chr8:31030536 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1576+5G>A single nucleotide variant Werner syndrome [RCV000633230] Chr8:31087925 [GRCh38]
Chr8:30945441 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3211C>T (p.Pro1071Ser) single nucleotide variant Inborn genetic diseases [RCV004678771]|Werner syndrome [RCV000633231] Chr8:31141753 [GRCh38]
Chr8:30999269 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1652+1G>A single nucleotide variant Werner syndrome [RCV000633232] Chr8:31088966 [GRCh38]
Chr8:30946482 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.2733A>G (p.Gln911=) single nucleotide variant Werner syndrome [RCV000633233] Chr8:31124908 [GRCh38]
Chr8:30982424 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.2822C>A (p.Ser941Tyr) single nucleotide variant Werner syndrome [RCV000633234] Chr8:31124997 [GRCh38]
Chr8:30982513 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2332C>T (p.Gln778Ter) single nucleotide variant Werner syndrome [RCV000633241] Chr8:31116412 [GRCh38]
Chr8:30973928 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.509_510dup (p.Cys171fs) duplication Werner syndrome [RCV000633242] Chr8:31067035..31067036 [GRCh38]
Chr8:30924551..30924552 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2423A>G (p.His808Arg) single nucleotide variant Werner syndrome [RCV000633243] Chr8:31116503 [GRCh38]
Chr8:30974019 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3631A>G (p.Met1211Val) single nucleotide variant Werner syndrome [RCV000633247] Chr8:31150399 [GRCh38]
Chr8:31007915 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3826A>G (p.Ile1276Val) single nucleotide variant Werner syndrome [RCV000633248] Chr8:31157374 [GRCh38]
Chr8:31014890 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1582T>A (p.Leu528Met) single nucleotide variant Werner syndrome [RCV000633249] Chr8:31088895 [GRCh38]
Chr8:30946411 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.724_724+3del deletion Werner syndrome [RCV000633255] Chr8:31068326..31068329 [GRCh38]
Chr8:30925842..30925845 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.1495A>G (p.Arg499Gly) single nucleotide variant Werner syndrome [RCV000633257] Chr8:31087839 [GRCh38]
Chr8:30945355 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4143C>T (p.Ile1381=) single nucleotide variant Werner syndrome [RCV000633270] Chr8:31167182 [GRCh38]
Chr8:31024698 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1359T>G (p.Ser453=) single nucleotide variant Werner syndrome [RCV000633272] Chr8:31085174 [GRCh38]
Chr8:30942690 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3982+10A>G single nucleotide variant Werner syndrome [RCV000633275] Chr8:31157540 [GRCh38]
Chr8:31015056 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3582G>A (p.Thr1194=) single nucleotide variant Werner syndrome [RCV000633285] Chr8:31150350 [GRCh38]
Chr8:31007866 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity
NM_000553.6(WRN):c.294A>G (p.Ala98=) single nucleotide variant Werner syndrome [RCV000633286] Chr8:31064373 [GRCh38]
Chr8:30921889 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2900dup (p.Leu967fs) duplication not provided [RCV000595228] Chr8:31132435..31132436 [GRCh38]
Chr8:30989951..30989952 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.4275G>A (p.Thr1425=) single nucleotide variant Werner syndrome [RCV000555488]|not provided [RCV003237898] Chr8:31173078 [GRCh38]
Chr8:31030594 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.876A>G (p.Leu292=) single nucleotide variant Werner syndrome [RCV000556083] Chr8:31080903 [GRCh38]
Chr8:30938419 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3434T>C (p.Ile1145Thr) single nucleotide variant Werner syndrome [RCV000559338] Chr8:31147103 [GRCh38]
Chr8:31004619 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4059G>A (p.Glu1353=) single nucleotide variant Werner syndrome [RCV000559480] Chr8:31167098 [GRCh38]
Chr8:31024614 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4191+3A>G single nucleotide variant Werner syndrome [RCV000536986] Chr8:31167233 [GRCh38]
Chr8:31024749 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.96+7T>C single nucleotide variant Werner syndrome [RCV000554696] Chr8:31058550 [GRCh38]
Chr8:30916066 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4114A>G (p.Arg1372Gly) single nucleotide variant Werner syndrome [RCV000537786] Chr8:31167153 [GRCh38]
Chr8:31024669 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1254T>A (p.Ala418=) single nucleotide variant Werner syndrome [RCV000533359] Chr8:31081281 [GRCh38]
Chr8:30938797 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2089-9A>G single nucleotide variant Werner syndrome [RCV000533910] Chr8:31111606 [GRCh38]
Chr8:30969122 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.724+1G>T single nucleotide variant Type 2 diabetes mellitus [RCV000626713]|Werner syndrome [RCV001197400] Chr8:31068328 [GRCh38]
Chr8:30925844 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.3703A>G (p.Ser1235Gly) single nucleotide variant Werner syndrome [RCV000539236] Chr8:31154639 [GRCh38]
Chr8:31012155 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2963G>T (p.Gly988Val) single nucleotide variant Werner syndrome [RCV000558458] Chr8:31132502 [GRCh38]
Chr8:30990018 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2107dup (p.Thr703fs) duplication Werner syndrome [RCV000536055] Chr8:31111632..31111633 [GRCh38]
Chr8:30969148..30969149 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.4256A>C (p.Lys1419Thr) single nucleotide variant Werner syndrome [RCV000540193] Chr8:31173059 [GRCh38]
Chr8:31030575 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1367A>C (p.Asp456Ala) single nucleotide variant Werner syndrome [RCV000536552] Chr8:31085182 [GRCh38]
Chr8:30942698 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2023G>C (p.Glu675Gln) single nucleotide variant Werner syndrome [RCV000633179] Chr8:31100890 [GRCh38]
Chr8:30958406 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4030G>A (p.Asp1344Asn) single nucleotide variant Werner syndrome [RCV000633180] Chr8:31167069 [GRCh38]
Chr8:31024585 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2108C>G (p.Thr703Ser) single nucleotide variant Werner syndrome [RCV000633181] Chr8:31111634 [GRCh38]
Chr8:30969150 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3814C>T (p.Pro1272Ser) single nucleotide variant Werner syndrome [RCV000633184] Chr8:31154750 [GRCh38]
Chr8:31012266 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2225A>C (p.Lys742Thr) single nucleotide variant Werner syndrome [RCV000633195] Chr8:31111751 [GRCh38]
Chr8:30969267 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.457A>G (p.Ile153Val) single nucleotide variant Werner syndrome [RCV000633197] Chr8:31065016 [GRCh38]
Chr8:30922532 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2132G>C (p.Arg711Pro) single nucleotide variant Werner syndrome [RCV000633198] Chr8:31111658 [GRCh38]
Chr8:30969174 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) single nucleotide variant Ovarian cancer [RCV003153773]|Werner syndrome [RCV000633207] Chr8:31154714 [GRCh38]
Chr8:31012230 [GRCh37]
Chr8:8p12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1215G>A (p.Leu405=) single nucleotide variant Werner syndrome [RCV000633208] Chr8:31081242 [GRCh38]
Chr8:30938758 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1537G>C (p.Glu513Gln) single nucleotide variant Werner syndrome [RCV000633209] Chr8:31087881 [GRCh38]
Chr8:30945397 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2879G>A (p.Gly960Asp) single nucleotide variant Werner syndrome [RCV000633210] Chr8:31132418 [GRCh38]
Chr8:30989934 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.528C>A (p.Ser176Arg) single nucleotide variant Werner syndrome [RCV000633211] Chr8:31067056 [GRCh38]
Chr8:30924572 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3989G>A (p.Ser1330Asn) single nucleotide variant Werner syndrome [RCV000633212] Chr8:31167028 [GRCh38]
Chr8:31024544 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.803_808dup (p.Leu268_Pro269dup) duplication Werner syndrome [RCV000633213] Chr8:31076248..31076249 [GRCh38]
Chr8:30933764..30933765 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1621A>G (p.Lys541Glu) single nucleotide variant Werner syndrome [RCV000633214] Chr8:31088934 [GRCh38]
Chr8:30946450 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3973G>A (p.Val1325Ile) single nucleotide variant Werner syndrome [RCV000633215] Chr8:31157521 [GRCh38]
Chr8:31015037 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) single nucleotide variant Werner syndrome [RCV000633216] Chr8:31111720 [GRCh38]
Chr8:30969236 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter) single nucleotide variant Werner syndrome [RCV000633217] Chr8:31120398 [GRCh38]
Chr8:30977914 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2435G>T (p.Arg812Ile) single nucleotide variant Werner syndrome [RCV000633218] Chr8:31116515 [GRCh38]
Chr8:30974031 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.275G>A (p.Gly92Glu) single nucleotide variant Werner syndrome [RCV000633219] Chr8:31064354 [GRCh38]
Chr8:30921870 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3058C>T (p.Arg1020Cys) single nucleotide variant Werner syndrome [RCV000633220]|not provided [RCV004691967] Chr8:31141520 [GRCh38]
Chr8:30999036 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.59A>T (p.Asn20Ile) single nucleotide variant Werner syndrome [RCV000633221] Chr8:31058506 [GRCh38]
Chr8:30916022 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1037C>T (p.Thr346Ile) single nucleotide variant Werner syndrome [RCV000633222] Chr8:31081064 [GRCh38]
Chr8:30938580 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.976G>T (p.Gly326Trp) single nucleotide variant Werner syndrome [RCV000633228] Chr8:31081003 [GRCh38]
Chr8:30938519 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2583A>G (p.Gln861=) single nucleotide variant Werner syndrome [RCV000633229] Chr8:31120377 [GRCh38]
Chr8:30977893 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1457C>T (p.Thr486Met) single nucleotide variant Inborn genetic diseases [RCV002533184]|Werner syndrome [RCV000633235] Chr8:31087801 [GRCh38]
Chr8:30945317 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2443A>G (p.Ile815Val) single nucleotide variant WRN-related disorder [RCV003411503]|Werner syndrome [RCV000633236] Chr8:31116523 [GRCh38]
Chr8:30974039 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2192A>T (p.Asp731Val) single nucleotide variant Werner syndrome [RCV000633252] Chr8:31111718 [GRCh38]
Chr8:30969234 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2158C>A (p.Leu720Met) single nucleotide variant Werner syndrome [RCV000633253] Chr8:31111684 [GRCh38]
Chr8:30969200 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2263G>A (p.Val755Ile) single nucleotide variant Inborn genetic diseases [RCV004678772]|Werner syndrome [RCV000633254] Chr8:31111789 [GRCh38]
Chr8:30969305 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.252_266del (p.Glu84_Tyr89delinsAsp) deletion Werner syndrome [RCV000633256] Chr8:31064330..31064344 [GRCh38]
Chr8:30921846..30921860 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2713T>A (p.Ser905Thr) single nucleotide variant Werner syndrome [RCV000633258] Chr8:31124604 [GRCh38]
Chr8:30982120 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3454A>G (p.Thr1152Ala) single nucleotide variant Werner syndrome [RCV000633259] Chr8:31147123 [GRCh38]
Chr8:31004639 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2501G>A (p.Arg834His) single nucleotide variant Werner syndrome [RCV000633260] Chr8:31120295 [GRCh38]
Chr8:30977811 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3014G>A (p.Gly1005Asp) single nucleotide variant Werner syndrome [RCV000633261]|not provided [RCV003437340] Chr8:31141476 [GRCh38]
Chr8:30998992 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1745A>G (p.Gln582Arg) single nucleotide variant Werner syndrome [RCV000633263] Chr8:31090858 [GRCh38]
Chr8:30948374 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3389T>C (p.Met1130Thr) single nucleotide variant Werner syndrome [RCV000633264] Chr8:31147058 [GRCh38]
Chr8:31004574 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1504G>C (p.Gly502Arg) single nucleotide variant Werner syndrome [RCV000633265]|not specified [RCV003321699] Chr8:31087848 [GRCh38]
Chr8:30945364 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.847A>G (p.Ile283Val) single nucleotide variant Inborn genetic diseases [RCV004678773]|Werner syndrome [RCV000633266] Chr8:31080874 [GRCh38]
Chr8:30938390 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.315T>C (p.Ser105=) single nucleotide variant Werner syndrome [RCV000633276] Chr8:31064394 [GRCh38]
Chr8:30921910 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2238C>T (p.Ile746=) single nucleotide variant Werner syndrome [RCV000633280] Chr8:31111764 [GRCh38]
Chr8:30969280 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2338G>A (p.Val780Ile) single nucleotide variant Werner syndrome [RCV001163334]|not provided [RCV001572660] Chr8:31116418 [GRCh38]
Chr8:30973934 [GRCh37]
Chr8:8p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.1146A>G (p.Lys382=) single nucleotide variant Werner syndrome [RCV000633289] Chr8:31081173 [GRCh38]
Chr8:30938689 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1458G>C (p.Thr486=) single nucleotide variant Werner syndrome [RCV000633290] Chr8:31087802 [GRCh38]
Chr8:30945318 [GRCh37]
Chr8:8p12		 likely benign
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
NM_000553.6(WRN):c.4128del (p.Gly1377fs) deletion Werner syndrome [RCV000700729] Chr8:31167165 [GRCh38]
Chr8:31024681 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3523C>T (p.Pro1175Ser) single nucleotide variant Werner syndrome [RCV000686705] Chr8:31147427 [GRCh38]
Chr8:31004943 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.209+5G>A single nucleotide variant Werner syndrome [RCV000698561] Chr8:31059270 [GRCh38]
Chr8:30916786 [GRCh37]
Chr8:8p12		 likely pathogenic|uncertain significance
NM_000553.6(WRN):c.201A>G (p.Glu67=) single nucleotide variant Werner syndrome [RCV000699639]|not provided [RCV001771982] Chr8:31059257 [GRCh38]
Chr8:30916773 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.554T>G (p.Leu185Ter) single nucleotide variant Werner syndrome [RCV000700194] Chr8:31067082 [GRCh38]
Chr8:30924598 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2222G>A (p.Arg741Gln) single nucleotide variant Werner syndrome [RCV000698650] Chr8:31111748 [GRCh38]
Chr8:30969264 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.327T>G (p.Cys109Trp) single nucleotide variant Werner syndrome [RCV000700003] Chr8:31064406 [GRCh38]
Chr8:30921922 [GRCh37]
Chr8:8p12		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p12(chr8:30335124-33770070)x1 copy number loss not provided [RCV000683024] Chr8:30335124..33770070 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3919G>A (p.Gly1307Ser) single nucleotide variant Werner syndrome [RCV000702025] Chr8:31157467 [GRCh38]
Chr8:31014983 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.319A>C (p.Ser107Arg) single nucleotide variant Werner syndrome [RCV000702175] Chr8:31064398 [GRCh38]
Chr8:30921914 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter) single nucleotide variant Werner syndrome [RCV000687948] Chr8:31141564 [GRCh38]
Chr8:30999080 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2569C>G (p.Arg857Gly) single nucleotide variant Werner syndrome [RCV000688409] Chr8:31120363 [GRCh38]
Chr8:30977879 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1418T>A (p.Met473Lys) single nucleotide variant Werner syndrome [RCV000702729] Chr8:31085233 [GRCh38]
Chr8:30942749 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3323A>G (p.Lys1108Arg) single nucleotide variant Werner syndrome [RCV000684932] Chr8:31143563 [GRCh38]
Chr8:31001079 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2560A>G (p.Arg854Gly) single nucleotide variant Werner syndrome [RCV000684951] Chr8:31120354 [GRCh38]
Chr8:30977870 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1533TGA[1] (p.Asp512del) microsatellite Werner syndrome [RCV000699332] Chr8:31087875..31087877 [GRCh38]
Chr8:30945391..30945393 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3967C>G (p.Pro1323Ala) single nucleotide variant Werner syndrome [RCV000699579] Chr8:31157515 [GRCh38]
Chr8:31015031 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3711del (p.Lys1237fs) deletion Werner syndrome [RCV000700486] Chr8:31154644 [GRCh38]
Chr8:31012160 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2104C>T (p.Leu702Phe) single nucleotide variant Werner syndrome [RCV000686634] Chr8:31111630 [GRCh38]
Chr8:30969146 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1543G>C (p.Glu515Gln) single nucleotide variant Inborn genetic diseases [RCV002544750]|Werner syndrome [RCV000686451] Chr8:31087887 [GRCh38]
Chr8:30945403 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.565C>G (p.Leu189Val) single nucleotide variant Werner syndrome [RCV000687023] Chr8:31067093 [GRCh38]
Chr8:30924609 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1957C>G (p.Leu653Val) single nucleotide variant Inborn genetic diseases [RCV002544856]|Werner syndrome [RCV000689828] Chr8:31096826 [GRCh38]
Chr8:30954342 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2086A>G (p.Met696Val) single nucleotide variant Werner syndrome [RCV000694578] Chr8:31100953 [GRCh38]
Chr8:30958469 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4084G>A (p.Gly1362Arg) single nucleotide variant Werner syndrome [RCV000687221] Chr8:31167123 [GRCh38]
Chr8:31024639 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4225G>A (p.Val1409Met) single nucleotide variant Werner syndrome [RCV000690115] Chr8:31173028 [GRCh38]
Chr8:31030544 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4034C>A (p.Thr1345Lys) single nucleotide variant Werner syndrome [RCV000701628] Chr8:31167073 [GRCh38]
Chr8:31024589 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.547C>T (p.His183Tyr) single nucleotide variant Werner syndrome [RCV000701668] Chr8:31067075 [GRCh38]
Chr8:30924591 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2515T>G (p.Tyr839Asp) single nucleotide variant Werner syndrome [RCV000693029] Chr8:31120309 [GRCh38]
Chr8:30977825 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1304C>T (p.Ser435Phe) single nucleotide variant Werner syndrome [RCV000693094] Chr8:31083733 [GRCh38]
Chr8:30941249 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.499A>G (p.Lys167Glu) single nucleotide variant Werner syndrome [RCV000693102] Chr8:31065058 [GRCh38]
Chr8:30922574 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3862G>A (p.Gly1288Ser) single nucleotide variant Werner syndrome [RCV000690376] Chr8:31157410 [GRCh38]
Chr8:31014926 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3946A>G (p.Ile1316Val) single nucleotide variant Werner syndrome [RCV000694986]|not specified [RCV003987668] Chr8:31157494 [GRCh38]
Chr8:31015010 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4178G>T (p.Gly1393Val) single nucleotide variant Werner syndrome [RCV000695015] Chr8:31167217 [GRCh38]
Chr8:31024733 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.755_758del (p.Lys252fs) microsatellite Werner syndrome [RCV000695070] Chr8:31076199..31076202 [GRCh38]
Chr8:30933715..30933718 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.406G>A (p.Ala136Thr) single nucleotide variant Werner syndrome [RCV000690488] Chr8:31064965 [GRCh38]
Chr8:30922481 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.137T>C (p.Phe46Ser) single nucleotide variant Werner syndrome [RCV000690700] Chr8:31059193 [GRCh38]
Chr8:30916709 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2650C>T (p.Arg884Cys) single nucleotide variant Werner syndrome [RCV000704915] Chr8:31124541 [GRCh38]
Chr8:30982057 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4274C>T (p.Thr1425Met) single nucleotide variant Werner syndrome [RCV000702389] Chr8:31173077 [GRCh38]
Chr8:31030593 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1046C>T (p.Pro349Leu) single nucleotide variant Werner syndrome [RCV000707729] Chr8:31081073 [GRCh38]
Chr8:30938589 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.611C>T (p.Pro204Leu) single nucleotide variant Werner syndrome [RCV000691042] Chr8:31067139 [GRCh38]
Chr8:30924655 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3382A>C (p.Ser1128Arg) single nucleotide variant Werner syndrome [RCV000705250] Chr8:31143622 [GRCh38]
Chr8:31001138 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.321C>G (p.Ser107Arg) single nucleotide variant Werner syndrome [RCV000702913] Chr8:31064400 [GRCh38]
Chr8:30921916 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3616G>C (p.Glu1206Gln) single nucleotide variant Werner syndrome [RCV000688817] Chr8:31150384 [GRCh38]
Chr8:31007900 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3233+1G>C single nucleotide variant Werner syndrome [RCV000705760] Chr8:31141776 [GRCh38]
Chr8:30999292 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.1247A>G (p.Asp416Gly) single nucleotide variant Werner syndrome [RCV000699192]|not provided [RCV003884709] Chr8:31081274 [GRCh38]
Chr8:30938790 [GRCh37]
Chr8:8p12		 benign|likely benign|uncertain significance
NM_000553.6(WRN):c.2649A>G (p.Ile883Met) single nucleotide variant Werner syndrome [RCV000699432] Chr8:31124540 [GRCh38]
Chr8:30982056 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2922C>T (p.Gly974=) single nucleotide variant Werner syndrome [RCV000689039] Chr8:31132461 [GRCh38]
Chr8:30989977 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3679A>T (p.Ser1227Cys) single nucleotide variant Werner syndrome [RCV000689068] Chr8:31150447 [GRCh38]
Chr8:31007963 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3340C>T (p.Pro1114Ser) single nucleotide variant Inborn genetic diseases [RCV002544922]|Werner syndrome [RCV000691827] Chr8:31143580 [GRCh38]
Chr8:31001096 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2545T>C (p.Tyr849His) single nucleotide variant Werner syndrome [RCV000691841] Chr8:31120339 [GRCh38]
Chr8:30977855 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2234A>C (p.Asn745Thr) single nucleotide variant Werner syndrome [RCV000694207] Chr8:31111760 [GRCh38]
Chr8:30969276 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.32A>C (p.Gln11Pro) single nucleotide variant Werner syndrome [RCV000699537] Chr8:31058479 [GRCh38]
Chr8:30915995 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3309+1G>A single nucleotide variant Werner syndrome [RCV000685191] Chr8:31142702 [GRCh38]
Chr8:31000218 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.1007A>G (p.His336Arg) single nucleotide variant Werner syndrome [RCV000699590] Chr8:31081034 [GRCh38]
Chr8:30938550 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1133T>C (p.Val378Ala) single nucleotide variant Werner syndrome [RCV000699643] Chr8:31081160 [GRCh38]
Chr8:30938676 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) single nucleotide variant Werner syndrome [RCV000689198] Chr8:31090857 [GRCh38]
Chr8:30948373 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.3459+7C>T single nucleotide variant Werner syndrome [RCV000703663] Chr8:31147135 [GRCh38]
Chr8:31004651 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter) single nucleotide variant Werner syndrome [RCV000706164] Chr8:31141456 [GRCh38]
Chr8:30998972 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.1430A>G (p.Lys477Arg) single nucleotide variant Werner syndrome [RCV000692190] Chr8:31085245 [GRCh38]
Chr8:30942761 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.715A>G (p.Ile239Val) single nucleotide variant Werner syndrome [RCV000686089] Chr8:31068318 [GRCh38]
Chr8:30925834 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1721G>A (p.Gly574Glu) single nucleotide variant Werner syndrome [RCV000703706] Chr8:31090834 [GRCh38]
Chr8:30948350 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4070A>G (p.His1357Arg) single nucleotide variant Werner syndrome [RCV000692370] Chr8:31167109 [GRCh38]
Chr8:31024625 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1558G>A (p.Glu520Lys) single nucleotide variant Werner syndrome [RCV000700811] Chr8:31087902 [GRCh38]
Chr8:30945418 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3070A>G (p.Thr1024Ala) single nucleotide variant Werner syndrome [RCV000686507] Chr8:31141532 [GRCh38]
Chr8:30999048 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1075G>A (p.Gly359Arg) single nucleotide variant Werner syndrome [RCV000686575] Chr8:31081102 [GRCh38]
Chr8:30938618 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4129G>T (p.Gly1377Cys) single nucleotide variant Werner syndrome [RCV000703885] Chr8:31167168 [GRCh38]
Chr8:31024684 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.289G>T (p.Val97Phe) single nucleotide variant Werner syndrome [RCV000692583] Chr8:31064368 [GRCh38]
Chr8:30921884 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) indel Werner syndrome [RCV000686812]|not provided [RCV003480767] Chr8:31081141..31081142 [GRCh38]
Chr8:30938657..30938658 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.3643C>G (p.Leu1215Val) single nucleotide variant Werner syndrome [RCV000697302] Chr8:31150411 [GRCh38]
Chr8:31007927 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2231G>A (p.Gly744Glu) single nucleotide variant Werner syndrome [RCV000697215] Chr8:31111757 [GRCh38]
Chr8:30969273 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1382_1383delinsTT (p.Thr461Ile) indel Werner syndrome [RCV000697390] Chr8:31085197..31085198 [GRCh38]
Chr8:30942713..30942714 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1469C>T (p.Thr490Ile) single nucleotide variant Werner syndrome [RCV000697409] Chr8:31087813 [GRCh38]
Chr8:30945329 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1948A>G (p.Met650Val) single nucleotide variant Werner syndrome [RCV000697528] Chr8:31096817 [GRCh38]
Chr8:30954333 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3103A>G (p.Asn1035Asp) single nucleotide variant Werner syndrome [RCV000704031] Chr8:31141565 [GRCh38]
Chr8:30999081 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) single nucleotide variant Werner syndrome [RCV000689923] Chr8:31058535 [GRCh38]
Chr8:30916051 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.1566T>G (p.Asp522Glu) single nucleotide variant Werner syndrome [RCV000706826] Chr8:31087910 [GRCh38]
Chr8:30945426 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2388G>A (p.Ala796=) single nucleotide variant Werner syndrome [RCV000706840] Chr8:31116468 [GRCh38]
Chr8:30973984 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1598A>G (p.Asn533Ser) single nucleotide variant Werner syndrome [RCV000687750] Chr8:31088911 [GRCh38]
Chr8:30946427 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3581C>T (p.Thr1194Met) single nucleotide variant Werner syndrome [RCV000706856] Chr8:31150349 [GRCh38]
Chr8:31007865 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.270T>G (p.Asn90Lys) single nucleotide variant Werner syndrome [RCV000706983] Chr8:31064349 [GRCh38]
Chr8:30921865 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3310-6A>G single nucleotide variant Werner syndrome [RCV000704461] Chr8:31143544 [GRCh38]
Chr8:31001060 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1404T>G (p.Asp468Glu) single nucleotide variant Werner syndrome [RCV000695309] Chr8:31085219 [GRCh38]
Chr8:30942735 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1181C>G (p.Ser394Trp) single nucleotide variant Werner syndrome [RCV000704525] Chr8:31081208 [GRCh38]
Chr8:30938724 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.619G>C (p.Glu207Gln) single nucleotide variant Werner syndrome [RCV000690441] Chr8:31067147 [GRCh38]
Chr8:30924663 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3382del (p.Ser1128fs) deletion Werner syndrome [RCV000693200] Chr8:31143616 [GRCh38]
Chr8:31001132 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.1726G>C (p.Gly576Arg) single nucleotide variant Werner syndrome [RCV000695455] Chr8:31090839 [GRCh38]
Chr8:30948355 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3682del (p.Val1228fs) deletion Werner syndrome [RCV000704808] Chr8:31150450 [GRCh38]
Chr8:31007966 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2707C>G (p.Leu903Val) single nucleotide variant Werner syndrome [RCV000707360] Chr8:31124598 [GRCh38]
Chr8:30982114 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3253G>A (p.Gly1085Ser) single nucleotide variant Werner syndrome [RCV000702813] Chr8:31142645 [GRCh38]
Chr8:31000161 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.724+3A>G single nucleotide variant Werner syndrome [RCV000690872] Chr8:31068330 [GRCh38]
Chr8:30925846 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1351-2A>G single nucleotide variant Werner syndrome [RCV000705137] Chr8:31085164 [GRCh38]
Chr8:30942680 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.3850C>T (p.Leu1284Phe) single nucleotide variant Werner syndrome [RCV000693717] Chr8:31157398 [GRCh38]
Chr8:31014914 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1518AGA[3] (p.Glu509_Glu510del) microsatellite Werner syndrome [RCV000696022]|not provided [RCV001357949] Chr8:31087861..31087866 [GRCh38]
Chr8:30945377..30945382 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.2569C>T (p.Arg857Cys) single nucleotide variant Werner syndrome [RCV000693832] Chr8:31120363 [GRCh38]
Chr8:30977879 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1145A>G (p.Lys382Arg) single nucleotide variant Inborn genetic diseases [RCV002532345]|Ovarian cancer [RCV003153809]|Werner syndrome [RCV000696122] Chr8:31081172 [GRCh38]
Chr8:30938688 [GRCh37]
Chr8:8p12		 benign|uncertain significance
NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer) deletion Werner syndrome [RCV000703201] Chr8:31067052 [GRCh38]
Chr8:30924568 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.1478A>T (p.Lys493Ile) single nucleotide variant Werner syndrome [RCV000703244] Chr8:31087822 [GRCh38]
Chr8:30945338 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1408G>T (p.Asp470Tyr) single nucleotide variant Werner syndrome [RCV000696410] Chr8:31085223 [GRCh38]
Chr8:30942739 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1982-3C>A single nucleotide variant Werner syndrome [RCV000696472] Chr8:31100846 [GRCh38]
Chr8:30958362 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.410G>C (p.Gly137Ala) single nucleotide variant Werner syndrome [RCV000696517] Chr8:31064969 [GRCh38]
Chr8:30922485 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1921G>A (p.Val641Ile) single nucleotide variant Werner syndrome [RCV000698386] Chr8:31096790 [GRCh38]
Chr8:30954306 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1760A>G (p.Tyr587Cys) single nucleotide variant Werner syndrome [RCV000691475] Chr8:31090873 [GRCh38]
Chr8:30948389 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter) single nucleotide variant Werner syndrome [RCV000691593] Chr8:31111696 [GRCh38]
Chr8:30969212 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.515C>T (p.Thr172Ile) single nucleotide variant Werner syndrome [RCV000694179] Chr8:31067043 [GRCh38]
Chr8:30924559 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.644C>T (p.Thr215Ile) single nucleotide variant Werner syndrome [RCV000700325] Chr8:31067172 [GRCh38]
Chr8:30924688 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2207A>G (p.Tyr736Cys) single nucleotide variant Werner syndrome [RCV000698462] Chr8:31111733 [GRCh38]
Chr8:30969249 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1172G>T (p.Cys391Phe) single nucleotide variant Werner syndrome [RCV000703295]|not provided [RCV001555226] Chr8:31081199 [GRCh38]
Chr8:30938715 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1366G>A (p.Asp456Asn) single nucleotide variant Werner syndrome [RCV000691747] Chr8:31085181 [GRCh38]
Chr8:30942697 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1024G>A (p.Val342Ile) single nucleotide variant Inborn genetic diseases [RCV002533463]|Werner syndrome [RCV000696778] Chr8:31081051 [GRCh38]
Chr8:30938567 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3455C>A (p.Thr1152Asn) single nucleotide variant Werner syndrome [RCV000696850] Chr8:31147124 [GRCh38]
Chr8:31004640 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4099_4100delinsCC (p.Cys1367Pro) indel Werner syndrome [RCV000700617] Chr8:31167138..31167139 [GRCh38]
Chr8:31024654..31024655 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4055T>G (p.Ile1352Ser) single nucleotide variant Werner syndrome [RCV000689125] Chr8:31167094 [GRCh38]
Chr8:31024610 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2197C>T (p.Pro733Ser) single nucleotide variant Werner syndrome [RCV000703474] Chr8:31111723 [GRCh38]
Chr8:30969239 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3281T>G (p.Val1094Gly) single nucleotide variant Werner syndrome [RCV000705901] Chr8:31142673 [GRCh38]
Chr8:31000189 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) duplication Werner syndrome [RCV000705937] Chr8:31143615..31143616 [GRCh38]
Chr8:31001131..31001132 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2464A>G (p.Ile822Val) single nucleotide variant Inborn genetic diseases [RCV002532265]|Werner syndrome [RCV000694437] Chr8:31120258 [GRCh38]
Chr8:30977774 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3406A>G (p.Lys1136Glu) single nucleotide variant Werner syndrome [RCV000694472] Chr8:31147075 [GRCh38]
Chr8:31004591 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1519G>A (p.Glu507Lys) single nucleotide variant Werner syndrome [RCV000696945] Chr8:31087863 [GRCh38]
Chr8:30945379 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter) single nucleotide variant Werner syndrome [RCV000701196] Chr8:31157509 [GRCh38]
Chr8:31015025 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3309G>C (p.Lys1103Asn) single nucleotide variant Werner syndrome [RCV000701218] Chr8:31142701 [GRCh38]
Chr8:31000217 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2431G>T (p.Val811Leu) single nucleotide variant Werner syndrome [RCV000703505]|not provided [RCV003238193] Chr8:31116511 [GRCh38]
Chr8:30974027 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.60T>G (p.Asn20Lys) single nucleotide variant Werner syndrome [RCV000692009] Chr8:31058507 [GRCh38]
Chr8:30916023 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3241A>G (p.Thr1081Ala) single nucleotide variant Werner syndrome [RCV000694653] Chr8:31142633 [GRCh38]
Chr8:31000149 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) deletion Werner syndrome [RCV000697109] Chr8:31141490..31141493 [GRCh38]
Chr8:30999006..30999009 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.1111G>T (p.Glu371Ter) single nucleotide variant Werner syndrome [RCV000703720] Chr8:31081138 [GRCh38]
Chr8:30938654 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) duplication Werner syndrome [RCV000778859]|not provided [RCV003311886] Chr8:31141591..31141592 [GRCh38]
Chr8:30999107..30999108 [GRCh37]
Chr8:8p12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.3863G>A (p.Gly1288Asp) single nucleotide variant Werner syndrome [RCV001064986] Chr8:31157411 [GRCh38]
Chr8:31014927 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1192A>G (p.Thr398Ala) single nucleotide variant Werner syndrome [RCV001064991] Chr8:31081219 [GRCh38]
Chr8:30938735 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3294A>G (p.Leu1098=) single nucleotide variant Werner syndrome [RCV001412290] Chr8:31142686 [GRCh38]
Chr8:31000202 [GRCh37]
Chr8:8p12		 likely 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 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 8p12(chr8:30962693-30982426)x1 copy number loss not provided [RCV000747501] Chr8:30962693..30982426 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3572+304T>A single nucleotide variant not provided [RCV001648145] Chr8:31147780 [GRCh38]
Chr8:31005296 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.3384-104T>A single nucleotide variant not provided [RCV001667431] Chr8:31146949 [GRCh38]
Chr8:31004465 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.3234-141A>G single nucleotide variant not provided [RCV001584910] Chr8:31142485 [GRCh38]
Chr8:31000001 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.68A>G (p.Asn23Ser) single nucleotide variant Werner syndrome [RCV001043312] Chr8:31058515 [GRCh38]
Chr8:30916031 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.348del (p.Met117fs) deletion not provided [RCV000762504] Chr8:31064426 [GRCh38]
Chr8:30921942 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.1578del (p.Leu528fs) deletion Werner syndrome [RCV000796411]|not provided [RCV000762505] Chr8:31088891 [GRCh38]
Chr8:30946407 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_000553.6(WRN):c.2826-207C>T single nucleotide variant not provided [RCV001568982] Chr8:31132158 [GRCh38]
Chr8:30989674 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.654+210T>C single nucleotide variant not provided [RCV001569174] Chr8:31067392 [GRCh38]
Chr8:30924908 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4033A>G (p.Thr1345Ala) single nucleotide variant Werner syndrome [RCV001068026] Chr8:31167072 [GRCh38]
Chr8:31024588 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.248T>C (p.Met83Thr) single nucleotide variant Werner syndrome [RCV001066005] Chr8:31064327 [GRCh38]
Chr8:30921843 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3233+137T>C single nucleotide variant not provided [RCV001641377] Chr8:31141912 [GRCh38]
Chr8:30999428 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.908C>G (p.Thr303Ser) single nucleotide variant Werner syndrome [RCV001044527] Chr8:31080935 [GRCh38]
Chr8:30938451 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.172G>T (p.Asp58Tyr) single nucleotide variant Werner syndrome [RCV001066755] Chr8:31059228 [GRCh38]
Chr8:30916744 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2830G>A (p.Asp944Asn) single nucleotide variant Werner syndrome [RCV001165438] Chr8:31132369 [GRCh38]
Chr8:30989885 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4171G>A (p.Glu1391Lys) single nucleotide variant Werner syndrome [RCV001045152] Chr8:31167210 [GRCh38]
Chr8:31024726 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1898+291T>C single nucleotide variant not provided [RCV001708359] Chr8:31092189 [GRCh38]
Chr8:30949705 [GRCh37]
Chr8:8p12		 benign
NM_000553.6(WRN):c.530T>G (p.Leu177Arg) single nucleotide variant Werner syndrome [RCV001067098] Chr8:31067058 [GRCh38]
Chr8:30924574 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2305A>G (p.Ile769Val) single nucleotide variant Werner syndrome [RCV001045411] Chr8:31116385 [GRCh38]
Chr8:30973901 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.295C>T (p.Leu99=) single nucleotide variant Werner syndrome [RCV001427050] Chr8:31064374 [GRCh38]
Chr8:30921890 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3222G>C (p.Leu1074Phe) single nucleotide variant Werner syndrome [RCV001434072] Chr8:31141764 [GRCh38]
Chr8:30999280 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1878T>C (p.Asn626=) single nucleotide variant Werner syndrome [RCV001432401] Chr8:31091878 [GRCh38]
Chr8:30949394 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2250G>T (p.Leu750=) single nucleotide variant Werner syndrome [RCV001431340] Chr8:31111776 [GRCh38]
Chr8:30969292 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4092A>G (p.Gln1364=) single nucleotide variant Werner syndrome [RCV001473217] Chr8:31167131 [GRCh38]
Chr8:31024647 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1909C>A (p.Arg637=) single nucleotide variant Werner syndrome [RCV000869401] Chr8:31096778 [GRCh38]
Chr8:30954294 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2922C>A (p.Gly974=) single nucleotide variant Werner syndrome [RCV001501862] Chr8:31132461 [GRCh38]
Chr8:30989977 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.984A>G (p.Val328=) single nucleotide variant Werner syndrome [RCV001489994] Chr8:31081011 [GRCh38]
Chr8:30938527 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2904T>C (p.Ser968=) single nucleotide variant Werner syndrome [RCV000983149] Chr8:31132443 [GRCh38]
Chr8:30989959 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1458G>A (p.Thr486=) single nucleotide variant Werner syndrome [RCV000945320] Chr8:31087802 [GRCh38]
Chr8:30945318 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.96+10T>C single nucleotide variant Werner syndrome [RCV000936961] Chr8:31058553 [GRCh38]
Chr8:30916069 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1632T>C (p.Phe544=) single nucleotide variant Werner syndrome [RCV001406506] Chr8:31088945 [GRCh38]
Chr8:30946461 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3702A>G (p.Ser1234=) single nucleotide variant Werner syndrome [RCV001461628] Chr8:31154638 [GRCh38]
Chr8:31012154 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2502C>T (p.Arg834=) single nucleotide variant Werner syndrome [RCV000937482] Chr8:31120296 [GRCh38]
Chr8:30977812 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.837G>C (p.Arg279=) single nucleotide variant Werner syndrome [RCV000875813] Chr8:31076285 [GRCh38]
Chr8:30933801 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.396A>G (p.Ala132=) single nucleotide variant Werner syndrome [RCV001480069] Chr8:31064955 [GRCh38]
Chr8:30922471 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3308del (p.Lys1103fs) deletion Werner syndrome [RCV001070766] Chr8:31142699 [GRCh38]
Chr8:31000215 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3048G>C (p.Lys1016Asn) single nucleotide variant Werner syndrome [RCV001049035] Chr8:31141510 [GRCh38]
Chr8:30999026 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2078C>G (p.Ala693Gly) single nucleotide variant Werner syndrome [RCV001034954] Chr8:31100945 [GRCh38]
Chr8:30958461 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3538A>G (p.Thr1180Ala) single nucleotide variant Werner syndrome [RCV001055198] Chr8:31147442 [GRCh38]
Chr8:31004958 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3857C>T (p.Thr1286Ile) single nucleotide variant Werner syndrome [RCV001069255] Chr8:31157405 [GRCh38]
Chr8:31014921 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.215G>A (p.Ser72Asn) single nucleotide variant Werner syndrome [RCV001037441] Chr8:31064294 [GRCh38]
Chr8:30921810 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2628T>C (p.Asn876=) single nucleotide variant Werner syndrome [RCV001051731] Chr8:31120422 [GRCh38]
Chr8:30977938 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.3459G>A (p.Gln1153=) single nucleotide variant Werner syndrome [RCV001038717] Chr8:31147128 [GRCh38]
Chr8:31004644 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1364A>G (p.Asn455Ser) single nucleotide variant Werner syndrome [RCV001062168] Chr8:31085179 [GRCh38]
Chr8:30942695 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.97-1G>A single nucleotide variant Werner syndrome [RCV001069280] Chr8:31059152 [GRCh38]
Chr8:30916668 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.3820-2A>G single nucleotide variant Werner syndrome [RCV001035119] Chr8:31157366 [GRCh38]
Chr8:31014882 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.754A>G (p.Lys252Glu) single nucleotide variant Werner syndrome [RCV001041226] Chr8:31076202 [GRCh38]
Chr8:30933718 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3676_3679del (p.Asn1226fs) deletion Werner syndrome [RCV001055585] Chr8:31150443..31150446 [GRCh38]
Chr8:31007959..31007962 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2829G>A (p.Leu943=) single nucleotide variant Werner syndrome [RCV001062382] Chr8:31132368 [GRCh38]
Chr8:30989884 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.269A>G (p.Asn90Ser) single nucleotide variant Werner syndrome [RCV001037113] Chr8:31064348 [GRCh38]
Chr8:30921864 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3526G>A (p.Ala1176Thr) single nucleotide variant Werner syndrome [RCV001037133] Chr8:31147430 [GRCh38]
Chr8:31004946 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3146A>G (p.Asn1049Ser) single nucleotide variant Werner syndrome [RCV001061593] Chr8:31141688 [GRCh38]
Chr8:30999204 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2428T>C (p.Phe810Leu) single nucleotide variant Werner syndrome [RCV001056076] Chr8:31116508 [GRCh38]
Chr8:30974024 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3310-4G>A single nucleotide variant Werner syndrome [RCV001058571] Chr8:31143546 [GRCh38]
Chr8:31001062 [GRCh37]
Chr8:8p12		 likely benign|uncertain significance
NM_000553.6(WRN):c.1643G>A (p.Ser548Asn) single nucleotide variant Werner syndrome [RCV001053087] Chr8:31088956 [GRCh38]
Chr8:30946472 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2008G>T (p.Ala670Ser) single nucleotide variant Werner syndrome [RCV001056215] Chr8:31100875 [GRCh38]
Chr8:30958391 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.355+1G>T single nucleotide variant Werner syndrome [RCV001056217] Chr8:31064435 [GRCh38]
Chr8:30921951 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.2968-1G>A single nucleotide variant Werner syndrome [RCV001049593]|not provided [RCV001354971] Chr8:31141429 [GRCh38]
Chr8:30998945 [GRCh37]
Chr8:8p12		 likely pathogenic
NM_000553.6(WRN):c.1474T>G (p.Ser492Ala) single nucleotide variant Werner syndrome [RCV001053506] Chr8:31087818 [GRCh38]
Chr8:30945334 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.515C>A (p.Thr172Lys) single nucleotide variant Werner syndrome [RCV001059009] Chr8:31067043 [GRCh38]
Chr8:30924559 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3295A>G (p.Ser1099Gly) single nucleotide variant Werner syndrome [RCV001048042] Chr8:31142687 [GRCh38]
Chr8:31000203 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.921_922del (p.Glu308fs) deletion Werner syndrome [RCV001053556] Chr8:31080948..31080949 [GRCh38]
Chr8:30938464..30938465 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.3131C>T (p.Thr1044Met) single nucleotide variant Werner syndrome [RCV001042428] Chr8:31141593 [GRCh38]
Chr8:30999109 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2570G>A (p.Arg857His) single nucleotide variant Werner syndrome [RCV001037932] Chr8:31120364 [GRCh38]
Chr8:30977880 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.788A>G (p.Asp263Gly) single nucleotide variant Werner syndrome [RCV001037945] Chr8:31076236 [GRCh38]
Chr8:30933752 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1516A>G (p.Lys506Glu) single nucleotide variant Werner syndrome [RCV001059434] Chr8:31087860 [GRCh38]
Chr8:30945376 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3977A>G (p.Asn1326Ser) single nucleotide variant Werner syndrome [RCV001059450]|not provided [RCV002511026] Chr8:31157525 [GRCh38]
Chr8:31015041 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3988A>C (p.Ser1330Arg) single nucleotide variant Werner syndrome [RCV001052276] Chr8:31167027 [GRCh38]
Chr8:31024543 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1618C>T (p.Leu540Phe) single nucleotide variant Werner syndrome [RCV001057109] Chr8:31088931 [GRCh38]
Chr8:30946447 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3350A>C (p.Lys1117Thr) single nucleotide variant Werner syndrome [RCV001057128] Chr8:31143590 [GRCh38]
Chr8:31001106 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1563A>T (p.Glu521Asp) single nucleotide variant Werner syndrome [RCV001042890] Chr8:31087907 [GRCh38]
Chr8:30945423 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.610C>T (p.Pro204Ser) single nucleotide variant Werner syndrome [RCV001042891] Chr8:31067138 [GRCh38]
Chr8:30924654 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) single nucleotide variant Werner syndrome [RCV001057497] Chr8:31154660 [GRCh38]
Chr8:31012176 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.3325T>G (p.Leu1109Val) single nucleotide variant Werner syndrome [RCV001048581] Chr8:31143565 [GRCh38]
Chr8:31001081 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1847C>T (p.Ala616Val) single nucleotide variant Werner syndrome [RCV001036184] Chr8:31091847 [GRCh38]
Chr8:30949363 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2807G>A (p.Cys936Tyr) single nucleotide variant Werner syndrome [RCV001052753] Chr8:31124982 [GRCh38]
Chr8:30982498 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1783A>G (p.Ile595Val) single nucleotide variant Werner syndrome [RCV001070646] Chr8:31090896 [GRCh38]
Chr8:30948412 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2977C>T (p.Arg993Cys) single nucleotide variant Werner syndrome [RCV001036889] Chr8:31141439 [GRCh38]
Chr8:30998955 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1886C>T (p.Thr629Ile) single nucleotide variant Werner syndrome [RCV001054233] Chr8:31091886 [GRCh38]
Chr8:30949402 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1542T>G (p.Asn514Lys) single nucleotide variant Werner syndrome [RCV001054331] Chr8:31087886 [GRCh38]
Chr8:30945402 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2296C>G (p.Pro766Ala) single nucleotide variant Werner syndrome [RCV001057637] Chr8:31116376 [GRCh38]
Chr8:30973892 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1898+3G>C single nucleotide variant Werner syndrome [RCV001054541] Chr8:31091901 [GRCh38]
Chr8:30949417 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3500A>G (p.His1167Arg) single nucleotide variant Werner syndrome [RCV001040347] Chr8:31147404 [GRCh38]
Chr8:31004920 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.26C>T (p.Thr9Ile) single nucleotide variant Werner syndrome [RCV001057691] Chr8:31058473 [GRCh38]
Chr8:30915989 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2825G>A (p.Arg942Lys) single nucleotide variant Werner syndrome [RCV000808873] Chr8:31125000 [GRCh38]
Chr8:30982516 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1982-2A>G single nucleotide variant Werner syndrome [RCV000778858] Chr8:31100847 [GRCh38]
Chr8:30958363 [GRCh37]
Chr8:8p12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000553.6(WRN):c.4194T>G (p.Thr1398=) single nucleotide variant Werner syndrome [RCV001417111] Chr8:31172997 [GRCh38]
Chr8:31030513 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2712T>C (p.His904=) single nucleotide variant Werner syndrome [RCV000873025] Chr8:31124603 [GRCh38]
Chr8:30982119 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.210-10C>T single nucleotide variant Werner syndrome [RCV001391883] Chr8:31064279 [GRCh38]
Chr8:30921795 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.879T>C (p.Tyr293=) single nucleotide variant Werner syndrome [RCV000866307] Chr8:31080906 [GRCh38]
Chr8:30938422 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4167G>A (p.Lys1389=) single nucleotide variant Werner syndrome [RCV000866324] Chr8:31167206 [GRCh38]
Chr8:31024722 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2460T>C (p.Ala820=) single nucleotide variant Werner syndrome [RCV001456399] Chr8:31120254 [GRCh38]
Chr8:30977770 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1764A>G (p.Val588=) single nucleotide variant Werner syndrome [RCV001441302] Chr8:31090877 [GRCh38]
Chr8:30948393 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3807G>A (p.Lys1269=) single nucleotide variant Werner syndrome [RCV001468104] Chr8:31154743 [GRCh38]
Chr8:31012259 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2355G>A (p.Arg785=) single nucleotide variant Werner syndrome [RCV001406031] Chr8:31116435 [GRCh38]
Chr8:30973951 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2763A>G (p.Gln921=) single nucleotide variant Werner syndrome [RCV001447966] Chr8:31124938 [GRCh38]
Chr8:30982454 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3945T>A (p.Ile1315=) single nucleotide variant Werner syndrome [RCV000917467] Chr8:31157493 [GRCh38]
Chr8:31015009 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4191+7_4191+10del microsatellite Werner syndrome [RCV000940864] Chr8:31167233..31167236 [GRCh38]
Chr8:31024749..31024752 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.171C>T (p.Tyr57=) single nucleotide variant Werner syndrome [RCV000896518] Chr8:31059227 [GRCh38]
Chr8:30916743 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3342A>G (p.Pro1114=) single nucleotide variant Werner syndrome [RCV000983243] Chr8:31143582 [GRCh38]
Chr8:31001098 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.4191+10A>G single nucleotide variant Werner syndrome [RCV000860946] Chr8:31167240 [GRCh38]
Chr8:31024756 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1872A>C (p.Ser624=) single nucleotide variant Werner syndrome [RCV001431933] Chr8:31091872 [GRCh38]
Chr8:30949388 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.108G>A (p.Arg36=) single nucleotide variant Werner syndrome [RCV001471160]|not provided [RCV003438645] Chr8:31059164 [GRCh38]
Chr8:30916680 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2967+9A>G single nucleotide variant Werner syndrome [RCV000878089] Chr8:31132515 [GRCh38]
Chr8:30990031 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3399A>G (p.Ser1133=) single nucleotide variant Werner syndrome [RCV000871852] Chr8:31147068 [GRCh38]
Chr8:31004584 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2631-5G>C single nucleotide variant Werner syndrome [RCV001435484] Chr8:31124517 [GRCh38]
Chr8:30982033 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1143C>T (p.Asn381=) single nucleotide variant Werner syndrome [RCV001421545] Chr8:31081170 [GRCh38]
Chr8:30938686 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2655T>C (p.Asn885=) single nucleotide variant Werner syndrome [RCV001464980] Chr8:31124546 [GRCh38]
Chr8:30982062 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1509T>C (p.Leu503=) single nucleotide variant Werner syndrome [RCV000964746] Chr8:31087853 [GRCh38]
Chr8:30945369 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1938T>C (p.Cys646=) single nucleotide variant Werner syndrome [RCV001466182] Chr8:31096807 [GRCh38]
Chr8:30954323 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.3870C>T (p.His1290=) single nucleotide variant Werner syndrome [RCV001415368] Chr8:31157418 [GRCh38]
Chr8:31014934 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.724+10G>C single nucleotide variant Werner syndrome [RCV000865771] Chr8:31068337 [GRCh38]
Chr8:30925853 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.853C>T (p.Leu285=) single nucleotide variant Werner syndrome [RCV000972025] Chr8:31080880 [GRCh38]
Chr8:30938396 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.1407A>G (p.Glu469=) single nucleotide variant Werner syndrome [RCV000875036] Chr8:31085222 [GRCh38]
Chr8:30942738 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.2630+7A>T single nucleotide variant Werner syndrome [RCV000863843] Chr8:31120431 [GRCh38]
Chr8:30977947 [GRCh37]
Chr8:8p12		 likely benign
NM_000553.6(WRN):c.504+3A>G single nucleotide variant Werner syndrome [RCV000796474] Chr8:31065066 [GRCh38]
Chr8:30922582 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1087C>T (p.Leu363Phe) single nucleotide variant Werner syndrome [RCV000800893] Chr8:31081114 [GRCh38]
Chr8:30938630 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1829+5G>A single nucleotide variant Werner syndrome [RCV000804468] Chr8:31090947 [GRCh38]
Chr8:30948463 [GRCh37]
Chr8:8p12		 likely pathogenic|uncertain significance
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) single nucleotide variant Werner syndrome [RCV000822792] Chr8:31141504 [GRCh38]
Chr8:30999020 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.2647A>T (p.Ile883Leu) single nucleotide variant Werner syndrome [RCV000810261] Chr8:31124538 [GRCh38]
Chr8:30982054 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4178G>C (p.Gly1393Ala) single nucleotide variant Werner syndrome [RCV000813116] Chr8:31167217 [GRCh38]
Chr8:31024733 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3232A>G (p.Ser1078Gly) single nucleotide variant Werner syndrome [RCV000802690] Chr8:31141774 [GRCh38]
Chr8:30999290 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2479G>A (p.Gly827Ser) single nucleotide variant Werner syndrome [RCV000823061] Chr8:31120273 [GRCh38]
Chr8:30977789 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2028G>A (p.Trp676Ter) single nucleotide variant Werner syndrome [RCV000814029] Chr8:31100895 [GRCh38]
Chr8:30958411 [GRCh37]
Chr8:8p12		 pathogenic
NM_000553.6(WRN):c.2360_2361delinsCT (p.Leu787Pro) indel Werner syndrome [RCV000810316] Chr8:31116440..31116441 [GRCh38]
Chr8:30973956..30973957 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.4139A>G (p.Glu1380Gly) single nucleotide variant Werner syndrome [RCV000817478] Chr8:31167178 [GRCh38]
Chr8:31024694 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3214A>G (p.Lys1072Glu) single nucleotide variant Werner syndrome [RCV000802817] Chr8:31141756 [GRCh38]
Chr8:30999272 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1187A>G (p.Asp396Gly) single nucleotide variant Werner syndrome [RCV000819296] Chr8:31081214 [GRCh38]
Chr8:30938730 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1885A>G (p.Thr629Ala) single nucleotide variant Werner syndrome [RCV000810391] Chr8:31091885 [GRCh38]
Chr8:30949401 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.340G>T (p.Val114Phe) single nucleotide variant Werner syndrome [RCV000814396] Chr8:31064419 [GRCh38]
Chr8:30921935 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) deletion Werner syndrome [RCV000793398] Chr8:31090475 [GRCh38]
Chr8:30947991 [GRCh37]
Chr8:8p12		 pathogenic|likely pathogenic
NM_000553.6(WRN):c.1307A>G (p.Tyr436Cys) single nucleotide variant Werner syndrome [RCV000814573] Chr8:31083736 [GRCh38]
Chr8:30941252 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.2452G>A (p.Val818Ile) single nucleotide variant Werner syndrome [RCV000814603] Chr8:31120246 [GRCh38]
Chr8:30977762 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.82G>A (p.Val28Ile) single nucleotide variant Werner syndrome [RCV000801144] Chr8:31058529 [GRCh38]
Chr8:30916045 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3019G>A (p.Gly1007Ser) single nucleotide variant Werner syndrome [RCV000801148] Chr8:31141481 [GRCh38]
Chr8:30998997 [GRCh37]
Chr8:8p12		 uncertain significance
NM_000553.6(WRN):c.3468A>T (p.Leu1156Phe) single nucleotide variant Werner syndrome [RCV000821224] Chr8:31147372 [GRCh38]
Chr8:31004888 [GRCh37]
Chr8