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# | Reference Title | Reference Citation |
1. | Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. | Awata T, etal., Biochem Biophys Res Commun. 2000 Feb 16;268(2):612-6. |
2. | Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. | Bespalova IN, etal., Hum Mol Genet. 2001 Oct 15;10(22):2501-8. |
3. | A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients. | Chistiakov DA, etal., Rev Diabet Stud. 2010 Winter;7(4):285-92. doi: 10.1900/RDS.2010.7.285. Epub 2011 Feb 10. |
4. | The wolframin His611Arg polymorphism influences medication overuse headache. | Di Lorenzo C, etal., Neurosci Lett. 2007 Sep 13;424(3):179-84. Epub 2007 Aug 6. |
5. | WFS1 mutations in Spanish patients with diabetes mellitus and deafness. | Domenech E, etal., Eur J Hum Genet. 2002 Jul;10(7):421-6. |
6. | Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. | Florez JC, etal., Diabetologia. 2008 Mar;51(3):451-7. Epub 2007 Dec 4. |
7. | Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. | Franks PW, etal., Diabetologia. 2008 Mar;51(3):458-63. Epub 2007 Nov 27. |
8. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
9. | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). | Inoue H, etal., Nat Genet. 1998 Oct;20(2):143-8. |
10. | Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. | Ishihara H, etal., Hum Mol Genet. 2004 Jun 1;13(11):1159-70. Epub 2004 Mar 31. |
11. | WFS1 gene as a putative biomarker for development of post-traumatic syndrome in an animal model. | Kesner Y, etal., Mol Psychiatry. 2009 Jan;14(1):86-94. Epub 2007 Oct 30. |
12. | WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims. | Kytovuori L, etal., J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18. |
13. | Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene. | Larsen ZM, etal., Diabet Med. 2004 Mar;21(3):218-22. |
14. | Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. | Minton JA, etal., Diabetes. 2002 Apr;51(4):1287-90. |
15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
16. | CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes. | Peng D, etal., Sci Rep. 2017 Aug 18;7(1):8812. doi: 10.1038/s41598-017-09010-w. |
17. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
18. | Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. | Plaas M, etal., Sci Rep. 2017 Aug 31;7(1):10220. doi: 10.1038/s41598-017-09392-x. |
19. | Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. | Rendtorff ND, etal., Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. |
20. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
21. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
22. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
23. | Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome. | Toots M, etal., Sci Rep. 2018 Jul 5;8(1):10183. doi: 10.1038/s41598-018-28314-z. |
24. | The microtubule interacting drug candidate NAP protects against kainic acid toxicity in a rat model of epilepsy. | Zemlyak I, etal., J Neurochem. 2009 Dec;111(5):1252-63. doi: 10.1111/j.1471-4159.2009.06415.x. Epub 2009 Oct 3. |
PMID:7987399 | PMID:8595423 | PMID:9817917 | PMID:10424813 | PMID:10521293 | PMID:10624825 | PMID:10760554 | PMID:11161832 | PMID:11181517 | PMID:11181571 | PMID:11295831 | PMID:11317350 |
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PMID:17603484 | PMID:17947299 | PMID:18197395 | PMID:18212765 | PMID:18426861 | PMID:18518985 | PMID:18544103 | PMID:18566338 | PMID:18568334 | PMID:18591388 | PMID:18597214 | PMID:18660851 |
PMID:18688868 | PMID:18694974 | PMID:18806274 | PMID:18853134 | PMID:18984664 | PMID:18991055 | PMID:19020324 | PMID:19042979 | PMID:19082521 | PMID:19115052 | PMID:19139842 | PMID:19258404 |
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PMID:37931151 | PMID:38721948 |
WFS1 (Homo sapiens - human) |
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Wfs1 (Mus musculus - house mouse) |
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Wfs1 (Rattus norvegicus - Norway rat) |
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Wfs1 (Chinchilla lanigera - long-tailed chinchilla) |
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WFS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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WFS1 (Canis lupus familiaris - dog) |
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Wfs1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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WFS1 (Sus scrofa - pig) |
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WFS1 (Chlorocebus sabaeus - green monkey) |
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Wfs1 (Heterocephalus glaber - naked mole-rat) |
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.
Variants in WFS1
1602 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs) | deletion | Wolfram syndrome 1 [RCV000023511] | Chr4:6301726..6301733 [GRCh38] Chr4:6303453..6303460 [GRCh37] Chr4:4p16.1 |
pathogenic |
WFS1, ARG228GLN | variation | Wolfram-like syndrome, autosomal dominant [RCV000023512] | Chr4:4p16.1 | pathogenic |
WFS1, LYS836ASN | single nucleotide variant | Wolfram-like syndrome, autosomal dominant [RCV000023513] | Chr4:4p16.1 | pathogenic |
V415del | deletion | Wolfram syndrome 1 [RCV000023516] | Chr4:4p16.1 | pathogenic |
WFS1, 4-BP DEL, 1387CTCT | deletion | Wolfram syndrome 1 [RCV000023517] | Chr4:4p16.1 | pathogenic |
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) | deletion | Wolfram syndrome 1 [RCV000004772] | Chr4:6301175..6301183 [GRCh38] Chr4:6302902..6302910 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.460+1G>A | single nucleotide variant | Wolfram syndrome 1 [RCV000004773]|not provided [RCV001588798] | Chr4:6289132 [GRCh38] Chr4:6290859 [GRCh37] Chr4:4p16.1 |
pathogenic |
WFS1, 4-BP DEL, NT2648 AND Diabetes mellitus AND insipidus with optic atrophy | deletion | Diabetes mellitus AND insipidus with optic atrophy AND deafness [RCV000004776] | Chr4:4p16.1 | pathogenic |
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) | duplication | Type 2 diabetes mellitus [RCV001542530]|WFS1-Related Spectrum Disorders [RCV000778736]|Wolfram syndrome 1 [RCV000004777]|Wolfram syndrome [RCV000499974]|not provided [RCV001385126] | Chr4:6289078..6289079 [GRCh38] Chr4:6290805..6290806 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
WFS1, 16-BP DEL, NT1362 | deletion | Wolfram syndrome 1 [RCV000004783] | Chr4:4p16.1 | pathogenic |
WFS1, 2-BP DEL, 2812TC | deletion | Wolfram syndrome 1 [RCV000004765] | Chr4:4p16.1 | pathogenic |
WFS1, 15-BP DEL, NT1685 | deletion | Wolfram syndrome 1 [RCV000004766] | Chr4:4p16.1 | pathogenic |
WFS1, 7-BP INS, NT1610 | insertion | Wolfram syndrome 1 [RCV000004771] | Chr4:4p16.1 | pathogenic |
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) | single nucleotide variant | Cataract 41 [RCV000723288]|Cataract 41 [RCV002485847]|WFS1-related disorder [RCV004535807]|not provided [RCV001700452] | Chr4:6302289 [GRCh38] Chr4:6304016 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.615C>G (p.Gly205=) | single nucleotide variant | not provided [RCV000729921] | Chr4:6291351 [GRCh38] Chr4:6293078 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153358]|WFS1-Related Spectrum Disorders [RCV001153357]|Wolfram syndrome 1 [RCV002468026]|not provided [RCV000722247] | Chr4:6301788 [GRCh38] Chr4:6303515 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1613T>C (p.Phe538Ser) | single nucleotide variant | Wolfram syndrome 1 [RCV003126921]|not provided [RCV000722408] | Chr4:6301408 [GRCh38] Chr4:6303135 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) | single nucleotide variant | not provided [RCV000727902] | Chr4:6300772 [GRCh38] Chr4:6302499 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) | indel | Wolfram syndrome 1 [RCV003148856]|not provided [RCV000722519]|not specified [RCV001816793] | Chr4:6302358..6302360 [GRCh38] Chr4:6304085..6304087 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) | single nucleotide variant | Dandy-Walker syndrome [RCV000735330]|Inborn genetic diseases [RCV002536536]|not provided [RCV002263960] | Chr4:6301794 [GRCh38] Chr4:6303521 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2201T>A (p.Leu734His) | single nucleotide variant | Wolfram syndrome 1 [RCV003126923]|not provided [RCV000729131] | Chr4:6301996 [GRCh38] Chr4:6303723 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.2532C>T (p.Ala844=) | single nucleotide variant | Wolfram syndrome 1 [RCV003147518]|not specified [RCV000602823] | Chr4:6302327 [GRCh38] Chr4:6304054 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155662]|WFS1-Related Spectrum Disorders [RCV001155663]|not provided [RCV000132655]|not specified [RCV001195409] | Chr4:6301029 [GRCh38] Chr4:6302756 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000264975]|WFS1-Related Spectrum Disorders [RCV000324875]|Wolfram syndrome 1 [RCV000490497]|not provided [RCV000132656]|not specified [RCV000155350] | Chr4:6302004 [GRCh38] Chr4:6303731 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) | single nucleotide variant | not provided [RCV003778168] | Chr4:6301914 [GRCh38] Chr4:6303641 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001542531]|Inborn genetic diseases [RCV000623116]|WFS1-related disorder [RCV002280094]|Wolfram syndrome 1 [RCV000023515]|Wolfram syndrome 1 [RCV000605882]|Wolfram-like syndrome [RCV000023514]|not provided [RCV000200668] | Chr4:6301846 [GRCh38] Chr4:6303573 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) | single nucleotide variant | Wolfram-like syndrome [RCV000023518]|not provided [RCV001762055] | Chr4:6302133 [GRCh38] Chr4:6303860 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV000004767]|not provided [RCV000756934] | Chr4:6301966 [GRCh38] Chr4:6303693 [GRCh37] Chr4:4p16.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) | single nucleotide variant | Wolfram syndrome 1 [RCV000004768] | Chr4:6301879 [GRCh38] Chr4:6303606 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV000004769]|not provided [RCV003114176] | Chr4:6301739 [GRCh38] Chr4:6303466 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) | single nucleotide variant | Cataract 41 [RCV002496259]|Wolfram syndrome 1 [RCV000004770]|Wolfram syndrome 1 [RCV002243622]|not provided [RCV001387727] | Chr4:6301306 [GRCh38] Chr4:6303033 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV000004774] | Chr4:6291961 [GRCh38] Chr4:6293688 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV000004775] | Chr4:6302250 [GRCh38] Chr4:6303977 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000004778]|Rare genetic deafness [RCV000599627]|not provided [RCV000522349] | Chr4:6301941 [GRCh38] Chr4:6303668 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000004779]|Inborn genetic diseases [RCV001267554]|Wolfram syndrome 1 [RCV003155015]|not provided [RCV000726781] | Chr4:6302281 [GRCh38] Chr4:6304008 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000004780]|not provided [RCV001851653]|not specified [RCV000238945] | Chr4:6301891 [GRCh38] Chr4:6303618 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000004781]|not provided [RCV000521055] | Chr4:6302287 [GRCh38] Chr4:6304014 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000004782] | Chr4:6301696 [GRCh38] Chr4:6303423 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000020637]|Nonsyndromic genetic hearing loss [RCV001544536]|Rare genetic deafness [RCV000599631]|Wolfram syndrome 1 [RCV001528145]|Wolfram-like syndrome [RCV000004784]|not provided [RCV000523215] | Chr4:6302385 [GRCh38] Chr4:6304112 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.461-9A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000325882]|Type 2 diabetes mellitus [RCV000004785]|WFS1-Related Spectrum Disorders [RCV000273205]|Wolfram syndrome 1 [RCV002225069]|not provided [RCV001513863]|not specified [RCV000038664] | Chr4:6291188 [GRCh38] Chr4:6292915 [GRCh37] Chr4:4p16.1 |
pathogenic|association|benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_006005.3(WFS1):c.713-1075C>G | single nucleotide variant | Diabetes mellitus, noninsulin-dependent, association with [RCV000004786]|Type 2 diabetes mellitus [RCV001255180]|Wolfram syndrome 1 [RCV000987406]|not provided [RCV000830171]|not specified [RCV001777131] | Chr4:6293966 [GRCh38] Chr4:6295693 [GRCh37] Chr4:4p16.1 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000004787]|Cataract 41 [RCV002490313]|WFS1-Related Spectrum Disorders [RCV000275899]|WFS1-related disorder [RCV004532289]|not provided [RCV000480362] | Chr4:6302371 [GRCh38] Chr4:6304098 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) | single nucleotide variant | Cataract 41 [RCV000077875] | Chr4:6301180 [GRCh38] Chr4:6302907 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000319531]|WFS1-Related Spectrum Disorders [RCV000374136]|Wolfram syndrome 1 [RCV002465495]|not provided [RCV001517176]|not specified [RCV000038632] | Chr4:6300818 [GRCh38] Chr4:6302545 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn) | single nucleotide variant | Wolfram syndrome 1 [RCV002509034]|not provided [RCV001775561]|not specified [RCV000038633] | Chr4:6300898 [GRCh38] Chr4:6302625 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000285280]|WFS1-Related Spectrum Disorders [RCV000379830]|Wolfram syndrome 1 [RCV002463626]|not provided [RCV000876661]|not specified [RCV000038634] | Chr4:6300929 [GRCh38] Chr4:6302656 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.1185C>T (p.Val395=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000344908]|WFS1-Related Spectrum Disorders [RCV000380942]|Wolfram syndrome 1 [RCV002463627]|not provided [RCV001523397]|not specified [RCV000038635] | Chr4:6300980 [GRCh38] Chr4:6302707 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) | single nucleotide variant | Monogenic diabetes [RCV001174420]|WFS1-Related Spectrum Disorders [RCV001157341]|Wolfram syndrome 1 [RCV002464095]|not provided [RCV000756927]|not specified [RCV000038636] | Chr4:6301072 [GRCh38] Chr4:6302799 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000394964]|WFS1-Related Spectrum Disorders [RCV000297855]|Wolfram syndrome 1 [RCV003125862]|not provided [RCV000871115]|not specified [RCV000038637] | Chr4:6301103 [GRCh38] Chr4:6302830 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000269758]|WFS1-Related Spectrum Disorders [RCV000363867]|Wolfram syndrome 1 [RCV002464096]|not provided [RCV001523400]|not specified [RCV000038638] | Chr4:6301162 [GRCh38] Chr4:6302889 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) | single nucleotide variant | Wolfram syndrome 1 [RCV002509035]|not provided [RCV000766857]|not specified [RCV000038639] | Chr4:6277598 [GRCh38] Chr4:6279325 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000384013]|Cataract 41 [RCV002504898]|Monogenic diabetes [RCV000664089]|WFS1-Related Spectrum Disorders [RCV000329452]|Wolfram syndrome 1 [RCV002464097]|not provided [RCV000870509]|not specified [RCV000038640] | Chr4:6301290 [GRCh38] Chr4:6303017 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000294241]|Type 2 diabetes mellitus [RCV002285139]|WFS1-Related Spectrum Disorders [RCV000330600]|not provided [RCV001513865]|not specified [RCV000038641] | Chr4:6301295 [GRCh38] Chr4:6303022 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000361141]|WFS1-Related Spectrum Disorders [RCV000396690]|not provided [RCV001517177]|not specified [RCV000038642] | Chr4:6301520 [GRCh38] Chr4:6303247 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000307804]|Monogenic diabetes [RCV000445534]|WFS1-Related Spectrum Disorders [RCV000362526]|Wolfram syndrome 1 [RCV002464003]|not provided [RCV000755448]|not specified [RCV000038643] | Chr4:6301521 [GRCh38] Chr4:6303248 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain risk allele |
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000374202]|Monogenic diabetes [RCV000445501]|WFS1-Related Spectrum Disorders [RCV000284377]|Wolfram syndrome 1 [RCV002464004]|not provided [RCV000870649]|not specified [RCV000038644] | Chr4:6301600 [GRCh38] Chr4:6303327 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) | single nucleotide variant | Cataract 41 [RCV002482999]|Inborn genetic diseases [RCV002513506]|Monogenic diabetes [RCV001174424]|not provided [RCV001588853]|not specified [RCV000038645] | Chr4:6301615 [GRCh38] Chr4:6303342 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000339307]|WFS1-Related Spectrum Disorders [RCV000404430]|Wolfram syndrome 1 [RCV000987411]|not provided [RCV001523401]|not specified [RCV000038646] | Chr4:6301627 [GRCh38] Chr4:6303354 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) | single nucleotide variant | Inborn genetic diseases [RCV002513507]|Monogenic diabetes [RCV001174425]|Rare genetic deafness [RCV000038647]|Wolfram syndrome 1 [RCV003125863]|not provided [RCV000196272] | Chr4:6301681 [GRCh38] Chr4:6303408 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) | single nucleotide variant | Cataract 41 [RCV002490526]|Inborn genetic diseases [RCV004018878]|not provided [RCV003546463]|not specified [RCV000038648] | Chr4:6301738 [GRCh38] Chr4:6303465 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000345107]|Monogenic diabetes [RCV000664091]|WFS1-Related Spectrum Disorders [RCV000405887]|Wolfram syndrome 1 [RCV002463628]|not provided [RCV000755449]|not specified [RCV000038649] | Chr4:6301807 [GRCh38] Chr4:6303534 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) | single nucleotide variant | Rare genetic deafness [RCV000038650] | Chr4:6301849 [GRCh38] Chr4:6303576 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) | single nucleotide variant | Rare genetic deafness [RCV000038651] | Chr4:6301936 [GRCh38] Chr4:6303663 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000318906]|Cataract 41 [RCV002490527]|WFS1-Related Spectrum Disorders [RCV000378185]|Wolfram syndrome 1 [RCV002463629]|not provided [RCV000876662]|not specified [RCV000038652] | Chr4:6301979 [GRCh38] Chr4:6303706 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.21G>T (p.Pro7=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000403693]|WFS1-Related Spectrum Disorders [RCV000344123]|Wolfram syndrome 1 [RCV002463630]|not provided [RCV001521310]|not specified [RCV000038653] | Chr4:6277476 [GRCh38] Chr4:6279203 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) | single nucleotide variant | Wolfram syndrome 1 [RCV003125864]|not provided [RCV000876954]|not specified [RCV000038654] | Chr4:6301997 [GRCh38] Chr4:6303724 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000289183]|WFS1-Related Spectrum Disorders [RCV000379444]|Wolfram syndrome 1 [RCV003125865]|not provided [RCV000756929]|not specified [RCV000038655] | Chr4:6302042 [GRCh38] Chr4:6303769 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000315287]|WFS1-Related Spectrum Disorders [RCV000404074]|Wolfram syndrome 1 [RCV002463631]|not provided [RCV001517178]|not specified [RCV000038656] | Chr4:6302117 [GRCh38] Chr4:6303844 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000300529]|Cataract 41 [RCV002496613]|Monogenic diabetes [RCV000664095]|WFS1-Related Spectrum Disorders [RCV000404342]|Wolfram syndrome 1 [RCV002464005]|not provided [RCV000515097]|not specified [RCV000038657] | Chr4:6302130 [GRCh38] Chr4:6303857 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain risk allele |
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) | microsatellite | WFS1-related disorder [RCV004534816]|not provided [RCV000658992]|not specified [RCV000038658] | Chr4:6302180..6302181 [GRCh38] Chr4:6303907..6303908 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000352148]|Diabetes mellitus [RCV002287353]|Sensorineural hearing loss disorder [RCV002287352]|WFS1-Related Spectrum Disorders [RCV000292566]|not provided [RCV001523402]|not specified [RCV000038659] | Chr4:6302228 [GRCh38] Chr4:6303955 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000329623]|WFS1-Related Spectrum Disorders [RCV000272258]|not provided [RCV001523403]|not specified [RCV000038660] | Chr4:6302360 [GRCh38] Chr4:6304087 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) | single nucleotide variant | Diabetes mellitus [RCV002326743]|Monogenic diabetes [RCV001174385]|WFS1-related disorder [RCV004534817]|not provided [RCV000872827]|not specified [RCV000038661] | Chr4:6289021 [GRCh38] Chr4:6290748 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.402G>A (p.Ala134=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000362055]|WFS1-Related Spectrum Disorders [RCV000396757]|Wolfram syndrome 1 [RCV002509036]|not provided [RCV000871734]|not specified [RCV000038662] | Chr4:6289073 [GRCh38] Chr4:6290800 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.461-15C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000303369]|WFS1-Related Spectrum Disorders [RCV000365086]|Wolfram syndrome 1 [RCV002464098]|not provided [RCV001513862]|not specified [RCV000038663] | Chr4:6291182 [GRCh38] Chr4:6292909 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.684C>G (p.Arg228=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000319343]|WFS1-Related Spectrum Disorders [RCV000261705]|Wolfram syndrome 1 [RCV002464099]|not provided [RCV001513864]|not specified [RCV000038665] | Chr4:6291969 [GRCh38] Chr4:6293696 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_006005.3(WFS1):c.83A>G (p.Asn28Ser) | single nucleotide variant | Wolfram syndrome 1 [RCV002509037]|not provided [RCV002513508]|not specified [RCV000038666] | Chr4:6277538 [GRCh38] Chr4:6279265 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.930A>G (p.Ala310=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155561]|Cataract 41 [RCV002496614]|WFS1-Related Spectrum Disorders [RCV001155562]|Wolfram syndrome 1 [RCV002509188]|not provided [RCV000865492]|not specified [RCV000038667] | Chr4:6300725 [GRCh38] Chr4:6302452 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157248]|Cataract 41 [RCV002496615]|WFS1-Related Spectrum Disorders [RCV000259675]|Wolfram syndrome 1 [RCV002464100]|not provided [RCV001523396]|not specified [RCV000038668] | Chr4:6300792 [GRCh38] Chr4:6302519 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 | copy number gain | See cases [RCV000050906] | Chr4:51519..8222798 [GRCh38] Chr4:51413..8224525 [GRCh37] Chr4:41413..8275425 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 | copy number loss | See cases [RCV000051642] | Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 | copy number loss | See cases [RCV000051614] | Chr4:56878..14499760 [GRCh38] Chr4:56772..14501384 [GRCh37] Chr4:46772..14110482 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 | copy number loss | See cases [RCV000051641] | Chr4:72555..7829425 [GRCh38] Chr4:72447..7831152 [GRCh37] Chr4:62447..7882052 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] | Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 | copy number gain | See cases [RCV000051753] | Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1 |
pathogenic |
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 | copy number gain | See cases [RCV000051757] | Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 | copy number gain | See cases [RCV000051755] | Chr4:85149..22450018 [GRCh38] Chr4:85040..22451641 [GRCh37] Chr4:75040..22060739 [NCBI36] Chr4:4p16.3-15.2 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] | Chr4:2231690..11197847 [GRCh38] Chr4:2233417..11199471 [GRCh37] Chr4:2203215..10808569 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] | Chr4:72555..10004195 [GRCh38] Chr4:72447..10005819 [GRCh37] Chr4:62447..9614917 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] | Chr4:72555..11610824 [GRCh38] Chr4:72447..11612448 [GRCh37] Chr4:62447..11221546 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 | copy number loss | See cases [RCV000051678] | Chr4:85149..7063699 [GRCh38] Chr4:85040..7065426 [GRCh37] Chr4:75040..7116327 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 | copy number loss | See cases [RCV000051679] | Chr4:85149..17486742 [GRCh38] Chr4:85040..17488365 [GRCh37] Chr4:75040..17097463 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 | copy number gain | See cases [RCV000051743] | Chr4:51319..10250807 [GRCh38] Chr4:51213..10252431 [GRCh37] Chr4:41213..9861529 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 | copy number loss | See cases [RCV000051680] | Chr4:85149..7843616 [GRCh38] Chr4:85040..7845343 [GRCh37] Chr4:75040..7896243 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 | copy number loss | See cases [RCV000053262] | Chr4:5455628..10640216 [GRCh38] Chr4:5457355..10641840 [GRCh37] Chr4:5508256..10250938 [NCBI36] Chr4:4p16.2-16.1 |
pathogenic |
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) | single nucleotide variant | Cataract 41 [RCV002485511]|Monogenic diabetes [RCV000664088]|not provided [RCV001855424] | Chr4:6300774 [GRCh38] Chr4:6302501 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) | single nucleotide variant | Spastic ataxia [RCV001644744]|not provided [RCV000657864] | Chr4:6300976 [GRCh38] Chr4:6302703 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) | single nucleotide variant | Cataract 41 [RCV002493069]|Wolfram syndrome 1 [RCV003126895]|not provided [RCV000658092] | Chr4:6301512 [GRCh38] Chr4:6303239 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) | single nucleotide variant | Monogenic diabetes [RCV000664096]|Wolfram syndrome 1 [RCV002464286]|not provided [RCV000952030]|not specified [RCV001700444] | Chr4:6302358 [GRCh38] Chr4:6304085 [GRCh37] Chr4:4p16.1 |
pathogenic|benign|likely benign |
NM_006005.3(WFS1):c.2570C>A (p.Thr857Asn) | single nucleotide variant | Monogenic diabetes [RCV000664097] | Chr4:6302365 [GRCh38] Chr4:6304092 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000336857]|Monogenic diabetes [RCV001174423]|WFS1-Related Spectrum Disorders [RCV000281797]|Wolfram syndrome 1 [RCV002464105]|not provided [RCV000081339]|not specified [RCV000150097] | Chr4:6301470 [GRCh38] Chr4:6303197 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000301562]|Inborn genetic diseases [RCV004019566]|Monogenic diabetes [RCV001174427]|WFS1-Related Spectrum Disorders [RCV000361228]|Wolfram syndrome 1 [RCV002464007]|not provided [RCV000872722]|not specified [RCV000081340] | Chr4:6302151 [GRCh38] Chr4:6303878 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2500G>A (p.Gly834Ser) | single nucleotide variant | not provided [RCV000081341] | Chr4:6302295 [GRCh38] Chr4:6304022 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000342228]|Cataract 41 [RCV002498427]|Monogenic diabetes [RCV000445441]|WFS1-Related Spectrum Disorders [RCV001156285]|Wolfram syndrome 1 [RCV002464106]|not provided [RCV000421798]|not specified [RCV000081342] | Chr4:6302406 [GRCh38] Chr4:6304133 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157249]|WFS1-Related Spectrum Disorders [RCV001157250]|Wolfram syndrome 1 [RCV002509227]|not provided [RCV000118863]|not specified [RCV000825497] | Chr4:6300819 [GRCh38] Chr4:6302546 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000403034]|Monogenic diabetes [RCV000445373]|WFS1-Related Spectrum Disorders [RCV000336052]|Wolfram syndrome 1 [RCV000987413]|not provided [RCV000487646]|not specified [RCV000118865] | Chr4:6302247 [GRCh38] Chr4:6303974 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000309925]|WFS1-Related Spectrum Disorders [RCV000364662]|Wolfram syndrome 1 [RCV002463643]|not provided [RCV000870843]|not specified [RCV000118867] | Chr4:6301814 [GRCh38] Chr4:6303541 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) | single nucleotide variant | Wolfram syndrome 1 [RCV003126500]|not provided [RCV000118868]|not specified [RCV000152692] | Chr4:6301977 [GRCh38] Chr4:6303704 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000393279]|WFS1-Related Spectrum Disorders [RCV000361257]|Wolfram syndrome 1 [RCV003147339]|not provided [RCV000870844]|not specified [RCV000118869] | Chr4:6302264 [GRCh38] Chr4:6303991 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.9C>T (p.Ser3=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000291481]|WFS1-Related Spectrum Disorders [RCV000383272]|Wolfram syndrome 1 [RCV002472308]|not provided [RCV000756923]|not specified [RCV000118870] | Chr4:6277464 [GRCh38] Chr4:6279191 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | See cases [RCV002292704] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001154623]|Cataract 41 [RCV002483249]|WFS1-Related Spectrum Disorders [RCV001154624]|Wolfram syndrome 1 [RCV000709886]|not provided [RCV000756925]|not specified [RCV000152665] | Chr4:6291218 [GRCh38] Chr4:6292945 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_006005.3(WFS1):c.1158C>T (p.Pro386=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509231]|not provided [RCV000871458]|not specified [RCV000126316] | Chr4:6300953 [GRCh38] Chr4:6302680 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157342]|Meniere disease [RCV004567069]|Monogenic diabetes [RCV000445544]|WFS1-Related Spectrum Disorders [RCV000351887]|Wolfram syndrome 1 [RCV000987408]|not provided [RCV000415767]|not specified [RCV000155411] | Chr4:6301089 [GRCh38] Chr4:6302816 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151986]|Inborn genetic diseases [RCV002514675]|Monogenic diabetes [RCV000664090]|WFS1-Related Spectrum Disorders [RCV001151987]|WFS1-related disorder [RCV004528845]|not provided [RCV000724541]|not specified [RCV000155342] | Chr4:6301392 [GRCh38] Chr4:6303119 [GRCh37] Chr4:4p16.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_006005.3(WFS1):c.1797C>A (p.Val599=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000368428]|Cataract 41 [RCV002505090]|WFS1-Related Spectrum Disorders [RCV000273823]|Wolfram syndrome 1 [RCV003126506]|not provided [RCV000865310]|not specified [RCV000155409] | Chr4:6301592 [GRCh38] Chr4:6303319 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000319583]|WFS1-Related Spectrum Disorders [RCV000278581]|Wolfram syndrome 1 [RCV003126507]|not provided [RCV000865311]|not specified [RCV000152682] | Chr4:6301595 [GRCh38] Chr4:6303322 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157672]|WFS1-Related Spectrum Disorders [RCV001157673]|Wolfram syndrome 1 [RCV003126508]|not provided [RCV000487609]|not specified [RCV000152687] | Chr4:6301847 [GRCh38] Chr4:6303574 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157670]|WFS1-Related Spectrum Disorders [RCV001157676]|WFS1-related disorder [RCV004528846]|not provided [RCV000487871]|not specified [RCV000155348] | Chr4:6301919 [GRCh38] Chr4:6303646 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) | single nucleotide variant | Cataract 41 [RCV002498615]|Diabetes mellitus [RCV002285142]|Monogenic diabetes [RCV001174426]|WFS1-Related Spectrum Disorders [RCV000263623]|not provided [RCV000756928]|not specified [RCV000152691] | Chr4:6301953 [GRCh38] Chr4:6303680 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153483]|WFS1-Related Spectrum Disorders [RCV001153482]|not provided [RCV000756926]|not specified [RCV000155349] | Chr4:6302000 [GRCh38] Chr4:6303727 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.-6+11C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001154415]|WFS1-Related Spectrum Disorders [RCV001154416]|Wolfram syndrome 1 [RCV002472309]|not specified [RCV000126334] | Chr4:6270025 [GRCh38] Chr4:6271752 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2366G>C (p.Gly789Ala) | single nucleotide variant | not provided [RCV001766289] | Chr4:6302161 [GRCh38] Chr4:6303888 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862G>A (p.Val288Met) | single nucleotide variant | Cataract 41 [RCV002498858]|not provided [RCV001303065]|not specified [RCV000171514] | Chr4:6300657 [GRCh38] Chr4:6302384 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1764G>A (p.Trp588Ter) | single nucleotide variant | not provided [RCV003221497] | Chr4:6301559 [GRCh38] Chr4:6303286 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) | single nucleotide variant | Diabetes mellitus [RCV001175325]|Type 2 diabetes mellitus [RCV003227696]|WFS1-Related Spectrum Disorders [RCV000778739]|WFS1-related disorder [RCV004537507]|Wolfram syndrome 1 [RCV001706152]|Wolfram syndrome [RCV000501459]|not provided [RCV000255189]|not specified [RCV000599628] | Chr4:6301467 [GRCh38] Chr4:6303194 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.578dup (p.Gln194fs) | duplication | Wolfram syndrome 1 [RCV001291716]|Wolfram-like syndrome [RCV001291715] | Chr4:6291312..6291313 [GRCh38] Chr4:6293039..6293040 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.416G>A (p.Arg139His) | single nucleotide variant | not provided [RCV001565038] | Chr4:6289087 [GRCh38] Chr4:6290814 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1514G>C (p.Cys505Ser) | single nucleotide variant | not provided [RCV001312645] | Chr4:6301309 [GRCh38] Chr4:6303036 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 | copy number gain | See cases [RCV000133677] | Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 | copy number loss | See cases [RCV000135336] | Chr4:78578..10335613 [GRCh38] Chr4:78470..10337237 [GRCh37] Chr4:68470..9946335 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 | copy number gain | See cases [RCV000135349] | Chr4:78578..15625573 [GRCh38] Chr4:78470..15627196 [GRCh37] Chr4:68470..15236294 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 | copy number loss | See cases [RCV000135657] | Chr4:72555..17278013 [GRCh38] Chr4:72447..17279636 [GRCh37] Chr4:62447..16888734 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.2-16.1(chr4:5875413-6557271)x1 | copy number loss | See cases [RCV000135671] | Chr4:5875413..6557271 [GRCh38] Chr4:5877140..6558998 [GRCh37] Chr4:5928041..6609899 [NCBI36] Chr4:4p16.2-16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 | copy number loss | See cases [RCV000135436] | Chr4:135972..9369341 [GRCh38] Chr4:129753..9371067 [GRCh37] Chr4:119753..8980165 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 | copy number loss | See cases [RCV000135532] | Chr4:72555..15658035 [GRCh38] Chr4:72447..15659658 [GRCh37] Chr4:62447..15268756 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 | copy number loss | See cases [RCV000135992] | Chr4:37335..9369258 [GRCh38] Chr4:37336..9370984 [GRCh37] Chr4:27336..8980082 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 | copy number loss | See cases [RCV000137036] | Chr4:72555..10250666 [GRCh38] Chr4:72447..10252290 [GRCh37] Chr4:62447..9861388 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 | copy number gain | See cases [RCV000137071] | Chr4:51519..17798196 [GRCh38] Chr4:51413..17799819 [GRCh37] Chr4:41413..17408917 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 | copy number gain | See cases [RCV000137261] | Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 | copy number loss | See cases [RCV000138198] | Chr4:72555..12898612 [GRCh38] Chr4:72447..12900236 [GRCh37] Chr4:62447..12509334 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 | copy number gain | See cases [RCV000138305] | Chr4:72555..21022414 [GRCh38] Chr4:72447..21024037 [GRCh37] Chr4:62447..20633135 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 | copy number loss | See cases [RCV000138227] | Chr4:36424..9369341 [GRCh38] Chr4:36424..9371067 [GRCh37] Chr4:26424..8980165 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|uncertain significance |
GRCh38/hg38 4p16.2-16.1(chr4:5859050-6557271)x1 | copy number loss | See cases [RCV000139511] | Chr4:5859050..6557271 [GRCh38] Chr4:5860777..6558998 [GRCh37] Chr4:5911678..6609899 [NCBI36] Chr4:4p16.2-16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 | copy number loss | See cases [RCV000139551] | Chr4:37335..15869056 [GRCh38] Chr4:37336..15870679 [GRCh37] Chr4:27336..15479777 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 | copy number loss | See cases [RCV000141502] | Chr4:4426403..17460549 [GRCh38] Chr4:4428130..17462172 [GRCh37] Chr4:4479031..17071270 [NCBI36] Chr4:4p16.3-15.32 |
pathogenic |
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 | copy number loss | See cases [RCV000142951] | Chr4:36424..7359817 [GRCh38] Chr4:36424..7361544 [GRCh37] Chr4:26424..7412445 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic|likely benign |
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 | copy number loss | See cases [RCV000143377] | Chr4:68453..8730129 [GRCh38] Chr4:68345..8731855 [GRCh37] Chr4:58345..8782755 [NCBI36] Chr4:4p16.3-16.1 |
pathogenic |
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 | copy number loss | See cases [RCV000143686] | Chr4:68453..14612453 [GRCh38] Chr4:68345..14614077 [GRCh37] Chr4:58345..14223175 [NCBI36] Chr4:4p16.3-15.33 |
pathogenic |
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 | copy number loss | See cases [RCV000143713] | Chr4:68453..20385608 [GRCh38] Chr4:68345..20387231 [GRCh37] Chr4:58345..19996329 [NCBI36] Chr4:4p16.3-15.31 |
pathogenic |
NM_006005.3(WFS1):c.1441C>T (p.Leu481=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126558]|not provided [RCV002056105]|not specified [RCV000155928] | Chr4:6301236 [GRCh38] Chr4:6302963 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.654C>T (p.Pro218=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155461]|WFS1-Related Spectrum Disorders [RCV001155462]|WFS1-related disorder [RCV004544445]|Wolfram syndrome 1 [RCV002509043]|not provided [RCV002056106]|not specified [RCV000155932] | Chr4:6291939 [GRCh38] Chr4:6293666 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155255]|Cataract 41 [RCV002484944]|WFS1-Related Spectrum Disorders [RCV001155256]|Wolfram syndrome 1 [RCV002509044]|not provided [RCV001857537]|not specified [RCV000156025] | Chr4:6277550 [GRCh38] Chr4:6279277 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) | duplication | Rare genetic deafness [RCV000152660]|Wolfram syndrome 1 [RCV002273965] | Chr4:6301235..6301236 [GRCh38] Chr4:6302962..6302963 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.128C>T (p.Ala43Val) | single nucleotide variant | Wolfram syndrome 1 [RCV002509039]|not specified [RCV000152662] | Chr4:6277583 [GRCh38] Chr4:6279310 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) | single nucleotide variant | Cataract 41 [RCV000765774]|Inborn genetic diseases [RCV002516065]|Wolfram syndrome 1 [RCV002509249]|not provided [RCV001857525]|not specified [RCV000152666] | Chr4:6295044 [GRCh38] Chr4:6296771 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.881A>T (p.His294Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV002509250]|not specified [RCV000152668] | Chr4:6300676 [GRCh38] Chr4:6302403 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) | single nucleotide variant | Inborn genetic diseases [RCV002516066]|Wolfram syndrome 1 [RCV002265628]|Wolfram syndrome 1 [RCV002509251]|not provided [RCV001309844]|not specified [RCV000152669] | Chr4:6300678 [GRCh38] Chr4:6302405 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1261A>G (p.Ile421Val) | single nucleotide variant | Wolfram syndrome 1 [RCV002509254]|not specified [RCV000152672] | Chr4:6301056 [GRCh38] Chr4:6302783 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153153]|WFS1-Related Spectrum Disorders [RCV001153152]|Wolfram syndrome 1 [RCV003126546]|not provided [RCV001505804]|not specified [RCV000152675] | Chr4:6301187 [GRCh38] Chr4:6302914 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) | single nucleotide variant | Cataract 41 [RCV000765781]|Wolfram syndrome 1 [RCV003126547]|not provided [RCV000756932]|not specified [RCV000152676] | Chr4:6301191 [GRCh38] Chr4:6302918 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126550]|not provided [RCV000725029]|not specified [RCV000152681] | Chr4:6301538 [GRCh38] Chr4:6303265 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) | single nucleotide variant | not provided [RCV001857526]|not specified [RCV000152683] | Chr4:6301717 [GRCh38] Chr4:6303444 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) | single nucleotide variant | Cataract 41 [RCV002478442]|Wolfram syndrome 1 [RCV003147358]|not provided [RCV001850080]|not specified [RCV000152684] | Chr4:6301779 [GRCh38] Chr4:6303506 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2080G>C (p.Glu694Gln) | single nucleotide variant | not specified [RCV000152689] | Chr4:6301875 [GRCh38] Chr4:6303602 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg) | single nucleotide variant | Wolfram syndrome 1 [RCV003128187]|not specified [RCV000152693] | Chr4:6302088 [GRCh38] Chr4:6303815 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.2323T>G (p.Phe775Val) | single nucleotide variant | Wolfram syndrome 1 [RCV003147359]|not specified [RCV000152694] | Chr4:6302118 [GRCh38] Chr4:6303845 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) | single nucleotide variant | Cataract 41 [RCV002498720]|Wolfram syndrome 1 [RCV003148660]|not provided [RCV000870805]|not specified [RCV000152696] | Chr4:6302201 [GRCh38] Chr4:6303928 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp) | single nucleotide variant | Wolfram syndrome 1 [RCV003148661]|not provided [RCV002056020]|not specified [RCV000152697] | Chr4:6302164 [GRCh38] Chr4:6303891 [GRCh37] Chr4:4p16.1 |
likely risk allele|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) | single nucleotide variant | Cataract 41 [RCV002498721]|Wolfram syndrome 1 [RCV003147360]|not provided [RCV000726782]|not specified [RCV000152700] | Chr4:6302265 [GRCh38] Chr4:6303992 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.2610C>T (p.Thr870=) | single nucleotide variant | Wolfram syndrome 1 [RCV003147361]|not provided [RCV000874952]|not specified [RCV000152701] | Chr4:6302405 [GRCh38] Chr4:6304132 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1935G>T (p.Leu645=) | single nucleotide variant | Wolfram syndrome 1 [RCV003128188]|not provided [RCV001618313]|not specified [RCV000156297] | Chr4:6301730 [GRCh38] Chr4:6303457 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000355811]|Monogenic diabetes [RCV001174388]|WFS1-Related Spectrum Disorders [RCV000312681]|Wolfram syndrome 1 [RCV002464008]|not provided [RCV000870981]|not specified [RCV000154149] | Chr4:6300712 [GRCh38] Chr4:6302439 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln) | duplication | Inborn genetic diseases [RCV002516340]|Wolfram syndrome 1 [RCV003147365]|not provided [RCV002515028]|not specified [RCV000156576] | Chr4:6302349..6302350 [GRCh38] Chr4:6304076..6304077 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1645C>G (p.Leu549Val) | single nucleotide variant | not specified [RCV000156674] | Chr4:6301440 [GRCh38] Chr4:6303167 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.825G>A (p.Ala275=) | single nucleotide variant | Cataract 41 [RCV002484957]|WFS1-related disorder [RCV004544458]|Wolfram syndrome 1 [RCV002509258]|not provided [RCV000904623]|not specified [RCV000156803] | Chr4:6295153 [GRCh38] Chr4:6296880 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) | single nucleotide variant | Monogenic diabetes [RCV000445448]|not provided [RCV000756930]|not specified [RCV000155333] | Chr4:6289024 [GRCh38] Chr4:6290751 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) | single nucleotide variant | Type 2 diabetes mellitus [RCV003227677]|not provided [RCV000949462]|not specified [RCV000155334] | Chr4:6289120 [GRCh38] Chr4:6290847 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) | single nucleotide variant | Cataract 41 [RCV002498751]|Wolfram syndrome 1 [RCV002509257]|not provided [RCV001640192]|not specified [RCV000155335] | Chr4:6295090 [GRCh38] Chr4:6296817 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.854G>A (p.Arg285His) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000279216]|Cataract 41 [RCV002484937]|WFS1-Related Spectrum Disorders [RCV000371650]|not provided [RCV000870648]|not specified [RCV000155336] | Chr4:6295182 [GRCh38] Chr4:6296909 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.997G>T (p.Val333Phe) | single nucleotide variant | not specified [RCV000155337] | Chr4:6300792 [GRCh38] Chr4:6302519 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153036]|WFS1-Related Spectrum Disorders [RCV001153037]|Wolfram syndrome 1 [RCV002509042]|not provided [RCV000733966]|not specified [RCV000155338] | Chr4:6300947 [GRCh38] Chr4:6302674 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153038]|Monogenic diabetes [RCV000445390]|WFS1-Related Spectrum Disorders [RCV001153039]|WFS1-related disorder [RCV004544437]|not provided [RCV000870736]|not specified [RCV000155339] | Chr4:6300948 [GRCh38] Chr4:6302675 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1321G>A (p.Val441Met) | single nucleotide variant | WFS1-related disorder [RCV004534991]|Wolfram syndrome 1 [RCV003126552]|not provided [RCV001517049]|not specified [RCV000155340] | Chr4:6301116 [GRCh38] Chr4:6302843 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) | single nucleotide variant | Cataract 41 [RCV002498752]|Wolfram syndrome 1 [RCV003126553]|not provided [RCV001503148]|not specified [RCV000155341] | Chr4:6301265 [GRCh38] Chr4:6302992 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) | single nucleotide variant | WFS1-related disorder [RCV004544438]|Wolfram syndrome 1 [RCV003126554]|not provided [RCV000487945]|not specified [RCV000155343] | Chr4:6301427 [GRCh38] Chr4:6303154 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000335610]|WFS1-Related Spectrum Disorders [RCV000402869]|Wolfram syndrome 1 [RCV003126555]|not provided [RCV000877309]|not specified [RCV000155344] | Chr4:6301469 [GRCh38] Chr4:6303196 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000327617]|WFS1-Related Spectrum Disorders [RCV000272593]|Wolfram syndrome 1 [RCV003126556]|not provided [RCV001704130]|not specified [RCV000155345] | Chr4:6301553 [GRCh38] Chr4:6303280 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155849]|WFS1-Related Spectrum Disorders [RCV001155848]|Wolfram syndrome 1 [RCV003126557]|not provided [RCV001510415]|not specified [RCV000155346] | Chr4:6301587 [GRCh38] Chr4:6303314 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000677339]|Cataract 41 [RCV000515318]|WFS1-Related Spectrum Disorders [RCV001152091]|WFS1-related disorder [RCV004534992]|not provided [RCV000767006]|not specified [RCV000155347] | Chr4:6301752 [GRCh38] Chr4:6303479 [GRCh37] Chr4:4p16.1 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157876]|WFS1-Related Spectrum Disorders [RCV001157875]|Wolfram syndrome 1 [RCV003147364]|not provided [RCV003546482]|not specified [RCV000155351] | Chr4:6302249 [GRCh38] Chr4:6303976 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000333986]|Cataract 41 [RCV002498754]|Monogenic diabetes [RCV000445506]|WFS1-Related Spectrum Disorders [RCV000386661]|Wolfram syndrome 1 [RCV002464131]|not provided [RCV000433970]|not specified [RCV000155410] | Chr4:6291313 [GRCh38] Chr4:6293040 [GRCh37] Chr4:4p16.1 |
likely risk allele|benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000284874]|Cataract 41 [RCV002492587]|Monogenic diabetes [RCV000664098]|WFS1-Related Spectrum Disorders [RCV000376917]|Wolfram syndrome 1 [RCV002464132]|not provided [RCV000871130]|not specified [RCV000155412] | Chr4:6302391 [GRCh38] Chr4:6304118 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.96G>A (p.Ser32=) | single nucleotide variant | WFS1-related disorder [RCV004532712]|Wolfram syndrome 1 [RCV002509038]|not provided [RCV000951768]|not specified [RCV000152661] | Chr4:6277551 [GRCh38] Chr4:6279278 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.225C>T (p.Asp75=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151496]|WFS1-Related Spectrum Disorders [RCV001151495]|Wolfram syndrome 1 [RCV002509040]|not provided [RCV000864281]|not specified [RCV000152663] | Chr4:6277680 [GRCh38] Chr4:6279407 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002516064]|Monogenic diabetes [RCV000664085]|Wolfram syndrome 1 [RCV002509041]|not provided [RCV000727284]|not specified [RCV000152664] | Chr4:6288996 [GRCh38] Chr4:6290723 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) | single nucleotide variant | not provided [RCV000767003]|not specified [RCV000152667] | Chr4:6295127 [GRCh38] Chr4:6296854 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) | single nucleotide variant | Cataract 41 [RCV002505159]|Wolfram syndrome 1 [RCV002509252]|not provided [RCV001308356]|not specified [RCV000152670] | Chr4:6301014 [GRCh38] Chr4:6302741 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) | single nucleotide variant | Inborn genetic diseases [RCV002514938]|Wolfram syndrome 1 [RCV002509253]|not provided [RCV001719944]|not specified [RCV000152671] | Chr4:6301032 [GRCh38] Chr4:6302759 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157343]|WFS1-Related Spectrum Disorders [RCV001157344]|WFS1-related disorder [RCV004532713]|not provided [RCV000838006]|not specified [RCV000152673] | Chr4:6301089 [GRCh38] Chr4:6302816 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000477805]|Inborn genetic diseases [RCV003278672]|not provided [RCV001298335]|not specified [RCV000152674] | Chr4:6301092 [GRCh38] Chr4:6302819 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1491C>T (p.Val497=) | single nucleotide variant | WFS1-related disorder [RCV004532714]|Wolfram syndrome 1 [RCV003126548]|not provided [RCV000945633]|not specified [RCV000152677] | Chr4:6301286 [GRCh38] Chr4:6303013 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000389673]|Cataract 41 [RCV002498719]|WFS1-Related Spectrum Disorders [RCV000295433]|Wolfram syndrome 1 [RCV003126549]|not provided [RCV000756924]|not specified [RCV000152678] | Chr4:6301325 [GRCh38] Chr4:6303052 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) | single nucleotide variant | Cataract 41 [RCV002483323]|not provided [RCV000767005]|not specified [RCV000152679] | Chr4:6301351 [GRCh38] Chr4:6303078 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000403088]|WFS1-Related Spectrum Disorders [RCV000301768]|Wolfram syndrome 1 [RCV002463650]|not provided [RCV000872436]|not specified [RCV000152680] | Chr4:6301478 [GRCh38] Chr4:6303205 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2013G>A (p.Ala671=) | single nucleotide variant | WFS1-related disorder [RCV004544388]|Wolfram syndrome 1 [RCV003126551]|not provided [RCV000946249]|not specified [RCV000152685] | Chr4:6301808 [GRCh38] Chr4:6303535 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2103C>T (p.Thr701=) | single nucleotide variant | Wolfram syndrome 1 [RCV003128186]|not provided [RCV001707537]|not specified [RCV000152690] | Chr4:6301898 [GRCh38] Chr4:6303625 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157779]|Monogenic diabetes [RCV000664094]|Nonsyndromic genetic hearing loss [RCV001544546]|WFS1-Related Spectrum Disorders [RCV000351538]|WFS1-related disorder [RCV004532715]|not provided [RCV000658991]|not specified [RCV000152695] | Chr4:6302122 [GRCh38] Chr4:6303849 [GRCh37] Chr4:4p16.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) | single nucleotide variant | Inborn genetic diseases [RCV002514939]|Monogenic diabetes [RCV000445494]|Wolfram syndrome 1 [RCV003335136]|not provided [RCV001574430]|not specified [RCV000152698] | Chr4:6302180 [GRCh38] Chr4:6303907 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) | single nucleotide variant | Cataract 41 [RCV002492568]|Wolfram syndrome 1 [RCV003148662]|not provided [RCV002516067]|not specified [RCV000152699] | Chr4:6302209 [GRCh38] Chr4:6303936 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156288]|WFS1-Related Spectrum Disorders [RCV001157955]|Wolfram syndrome 1 [RCV003128231]|not provided [RCV000864405]|not specified [RCV000152702] | Chr4:6302462 [GRCh38] Chr4:6304189 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) | single nucleotide variant | Cataract 41 [RCV002492751]|Monogenic diabetes [RCV000445453]|not provided [RCV000175817] | Chr4:6277475 [GRCh38] Chr4:6279202 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn) | single nucleotide variant | not provided [RCV001504622]|not specified [RCV000192394] | Chr4:6301980 [GRCh38] Chr4:6303707 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) | single nucleotide variant | Wolfram syndrome [RCV000192573] | Chr4:6300668 [GRCh38] Chr4:6302395 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) | single nucleotide variant | Cataract 41 [RCV001536034]|Inborn genetic diseases [RCV002515205]|Meniere disease [RCV004567372]|Type 2 diabetes mellitus [RCV001199167]|WFS1-related disorder [RCV004528924]|Wolfram syndrome 1 [RCV000169684]|Wolfram syndrome 1 [RCV000509458]|Wolfram syndrome 1 [RCV002467643]|not provided [RCV000514926] | Chr4:6277579 [GRCh38] Chr4:6279306 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000386848]|WFS1-Related Spectrum Disorders [RCV000327535]|WFS1-related disorder [RCV004530151]|Wolfram syndrome 1 [RCV003128234]|not provided [RCV000727290]|not specified [RCV000194535] | Chr4:6302219 [GRCh38] Chr4:6303946 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.683G>A (p.Arg228His) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155464]|Cataract 41 [RCV000515386]|WFS1-Related Spectrum Disorders [RCV001155463]|WFS1-related disorder [RCV004537488]|Wolfram-like syndrome [RCV000023512]|not provided [RCV000724125]|not specified [RCV000200201] | Chr4:6291968 [GRCh38] Chr4:6293695 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) | single nucleotide variant | Cataract 41 [RCV000765785]|Childhood onset hearing loss [RCV001328016]|Wolfram syndrome 1 [RCV003126571]|not provided [RCV000180289]|not specified [RCV004526628] | Chr4:6301824 [GRCh38] Chr4:6303551 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) | single nucleotide variant | Wolfram syndrome 1 [RCV003148665]|not provided [RCV000724671] | Chr4:6302175 [GRCh38] Chr4:6303902 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2181C>T (p.Ile727=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126572]|not provided [RCV000180292] | Chr4:6301976 [GRCh38] Chr4:6303703 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.*131C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000260124]|WFS1-Related Spectrum Disorders [RCV000371195]|Wolfram syndrome 1 [RCV003126695]|not provided [RCV001548595] | Chr4:6302599 [GRCh38] Chr4:6304326 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.-106A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000319102]|WFS1-Related Spectrum Disorders [RCV000261786]|Wolfram syndrome 1 [RCV002465630] | Chr4:6269914 [GRCh38] Chr4:6271641 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*357CTTT[2] | microsatellite | Nonsyndromic Hearing Loss, Dominant [RCV000265586]|WFS1-Related Spectrum Disorders [RCV000358044]|Wolfram syndrome 1 [RCV003126703] | Chr4:6302824..6302827 [GRCh38] Chr4:6304551..6304554 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*241T>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000320318]|WFS1-Related Spectrum Disorders [RCV000262863]|Wolfram syndrome 1 [RCV003126696]|not provided [RCV001692004] | Chr4:6302709 [GRCh38] Chr4:6304436 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del) | microsatellite | Wolfram syndrome [RCV000193337]|not provided [RCV001853123] | Chr4:6301030..6301032 [GRCh38] Chr4:6302757..6302759 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) | microsatellite | Cataract 41 [RCV002503760]|Wolfram syndrome 1 [RCV001824671]|Wolfram syndrome [RCV000194382]|not provided [RCV001762414] | Chr4:6301484..6301489 [GRCh38] Chr4:6303211..6303216 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) | single nucleotide variant | Wolfram syndrome [RCV000193050] | Chr4:6302164 [GRCh38] Chr4:6303891 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) | single nucleotide variant | Wolfram syndrome 1 [RCV000191145]|not provided [RCV001852540] | Chr4:6302058 [GRCh38] Chr4:6303785 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely risk allele |
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) | deletion | Cataract 41 [RCV001536011]|Wolfram syndrome 1 [RCV000191146]|not provided [RCV000200365] | Chr4:6302441..6302444 [GRCh38] Chr4:6304168..6304171 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1142T>C (p.Leu381Pro) | single nucleotide variant | Wolfram syndrome 1 [RCV002509045]|not specified [RCV000193916] | Chr4:6300937 [GRCh38] Chr4:6302664 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2390_2391insACG (p.Asp797delinsGluArg) | insertion | Wolfram syndrome 1 [RCV003148676]|not specified [RCV000201518] | Chr4:6302185..6302186 [GRCh38] Chr4:6303912..6303913 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1930G>T (p.Val644Leu) | single nucleotide variant | not specified [RCV000200274] | Chr4:6301725 [GRCh38] Chr4:6303452 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) | single nucleotide variant | Cataract 41 [RCV000765776]|not provided [RCV000767004]|not specified [RCV000200344] | Chr4:6295145 [GRCh38] Chr4:6296872 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) | single nucleotide variant | Cataract 41 [RCV002500616]|Monogenic diabetes [RCV000445445]|Type 2 diabetes mellitus [RCV001542532]|not provided [RCV001857736] | Chr4:6301989 [GRCh38] Chr4:6303716 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) | single nucleotide variant | Inborn genetic diseases [RCV004020438]|not provided [RCV000196477] | Chr4:6291367 [GRCh38] Chr4:6293094 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) | single nucleotide variant | Inborn genetic diseases [RCV004020436]|WFS1-related disorder [RCV004541267]|Wolfram syndrome 1 [RCV003126582]|not provided [RCV001705134]|not specified [RCV000196541] | Chr4:6301574 [GRCh38] Chr4:6303301 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) | indel | Cataract 41 [RCV002492910]|Wolfram syndrome 1 [RCV003126590]|not provided [RCV000196564] | Chr4:6301626..6301627 [GRCh38] Chr4:6303353..6303354 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) | single nucleotide variant | WFS1-related disorder [RCV004530178]|not provided [RCV000196664] | Chr4:6291241 [GRCh38] Chr4:6292968 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) | single nucleotide variant | Inborn genetic diseases [RCV002517276]|Monogenic diabetes [RCV000664093]|WFS1-related disorder [RCV004541268]|Wolfram syndrome 1 [RCV003126587]|not provided [RCV001705135]|not specified [RCV000200554] | Chr4:6302028 [GRCh38] Chr4:6303755 [GRCh37] Chr4:4p16.1 |
likely pathogenic|benign|likely benign |
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) | single nucleotide variant | Wolfram-like syndrome [RCV000656404]|not provided [RCV000200584] | Chr4:6302220 [GRCh38] Chr4:6303947 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) | single nucleotide variant | Inborn genetic diseases [RCV002515446]|Wolfram syndrome 1 [RCV003126581]|not provided [RCV000196751] | Chr4:6301452 [GRCh38] Chr4:6303179 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2164A>G (p.Met722Val) | single nucleotide variant | Wolfram syndrome 1 [RCV003126586]|not provided [RCV001853209] | Chr4:6301959 [GRCh38] Chr4:6303686 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157458]|Cataract 41 [RCV000765782]|WFS1-Related Spectrum Disorders [RCV001157457]|not provided [RCV000196844] | Chr4:6301333 [GRCh38] Chr4:6303060 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.712+16G>A | single nucleotide variant | Wolfram syndrome 1 [RCV000987405]|not provided [RCV000487791]|not specified [RCV000196951] | Chr4:6292013 [GRCh38] Chr4:6293740 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) | single nucleotide variant | not provided [RCV000729975]|not specified [RCV000196981] | Chr4:6302193 [GRCh38] Chr4:6303920 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157674]|WFS1-Related Spectrum Disorders [RCV001157675]|Wolfram syndrome 1 [RCV003128189]|not provided [RCV001853208]|not specified [RCV000200753] | Chr4:6301914 [GRCh38] Chr4:6303641 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1192G>C (p.Gly398Arg) | single nucleotide variant | not provided [RCV000200779] | Chr4:6300987 [GRCh38] Chr4:6302714 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) | single nucleotide variant | Inborn genetic diseases [RCV003015247]|Wolfram syndrome 1 [RCV002509128]|not provided [RCV002102698] | Chr4:6300771 [GRCh38] Chr4:6302498 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) | single nucleotide variant | Type 2 diabetes mellitus [RCV002467661]|WFS1-related disorder [RCV004541270]|not provided [RCV000197209] | Chr4:6301990 [GRCh38] Chr4:6303717 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000339404]|WFS1-Related Spectrum Disorders [RCV000300930]|Wolfram syndrome 1 [RCV003147402]|not provided [RCV000197313] | Chr4:6302248 [GRCh38] Chr4:6303975 [GRCh37] Chr4:4p16.1 |
likely risk allele|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.510C>G (p.Thr170=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000364218]|WFS1-Related Spectrum Disorders [RCV000276573]|Wolfram syndrome 1 [RCV002509046]|not provided [RCV000872702]|not specified [RCV000197385] | Chr4:6291246 [GRCh38] Chr4:6292973 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) | single nucleotide variant | Diabetes mellitus [RCV001175319]|Hearing impairment [RCV001375186]|Inborn genetic diseases [RCV002517281]|WFS1-Related Spectrum Disorders [RCV000625904]|WFS1-related disorder [RCV004530182]|Wolfram syndrome 1 [RCV001789765]|Wolfram-like syndrome [RCV003884394]|not provided [RCV000197395]|not specified [RCV000825499] | Chr4:6301815 [GRCh38] Chr4:6303542 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155752]|WFS1-Related Spectrum Disorders [RCV001155751]|Wolfram syndrome 1 [RCV003126580]|not provided [RCV001722099] | Chr4:6301302 [GRCh38] Chr4:6303029 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2582T>G (p.Val861Gly) | single nucleotide variant | not provided [RCV000197483] | Chr4:6302377 [GRCh38] Chr4:6304104 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1676C>G (p.Ala559Gly) | single nucleotide variant | not specified [RCV000197598] | Chr4:6301471 [GRCh38] Chr4:6303198 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) | duplication | WFS1-Related Spectrum Disorders [RCV000778737]|WFS1-related disorder [RCV004528984]|not provided [RCV000197607] | Chr4:6300702..6300703 [GRCh38] Chr4:6302429..6302430 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000357260]|WFS1-Related Spectrum Disorders [RCV000262536]|not provided [RCV001510485]|not specified [RCV000197658] | Chr4:6301104 [GRCh38] Chr4:6302831 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151498]|Inborn genetic diseases [RCV002517278]|Monogenic diabetes [RCV000445379]|WFS1-Related Spectrum Disorders [RCV001151497]|WFS1-related disorder [RCV004541269]|Wolfram syndrome 1 [RCV002509049]|not provided [RCV000945649]|not specified [RCV000197713] | Chr4:6277682 [GRCh38] Chr4:6279409 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) | single nucleotide variant | Inborn genetic diseases [RCV004020437]|Wolfram syndrome 1 [RCV002509048]|not provided [RCV002057034] | Chr4:6277547 [GRCh38] Chr4:6279274 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000490282]|WFS1-Related Spectrum Disorders [RCV000345927]|Wolfram syndrome 1 [RCV000987407]|not provided [RCV000953870]|not specified [RCV000825691] | Chr4:6301030 [GRCh38] Chr4:6302757 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1106A>C (p.Lys369Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV002509050]|not provided [RCV000198191] | Chr4:6300901 [GRCh38] Chr4:6302628 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) | single nucleotide variant | Hearing impairment [RCV001375052]|Wolfram-like syndrome [RCV002288800]|not provided [RCV000513230] | Chr4:6301849 [GRCh38] Chr4:6303576 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg) | single nucleotide variant | Wolfram syndrome 1 [RCV003126589]|not provided [RCV000198315] | Chr4:6301479 [GRCh38] Chr4:6303206 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely risk allele |
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157669]|WFS1-Related Spectrum Disorders [RCV001157671]|Wolfram syndrome 1 [RCV003126585]|not provided [RCV000871453]|not specified [RCV000198535] | Chr4:6301835 [GRCh38] Chr4:6303562 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157024]|Cataract 41 [RCV002485312]|Monogenic diabetes [RCV001174386]|WFS1-Related Spectrum Disorders [RCV001157025]|not provided [RCV000585599]|not specified [RCV000826085] | Chr4:6289071 [GRCh38] Chr4:6290798 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+5G>A | single nucleotide variant | Cataract 41 [RCV002492909]|Wolfram syndrome 1 [RCV002509051]|not provided [RCV000198681] | Chr4:6291372 [GRCh38] Chr4:6293099 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1801G>A (p.Val601Met) | single nucleotide variant | Wolfram syndrome 1 [RCV003126583]|not provided [RCV000728671]|not specified [RCV000198752] | Chr4:6301596 [GRCh38] Chr4:6303323 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2359_2360delinsAA (p.Ala787Asn) | indel | not provided [RCV003876927] | Chr4:6302154..6302155 [GRCh38] Chr4:6303881..6303882 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152301]|Inborn genetic diseases [RCV002517277]|WFS1-Related Spectrum Disorders [RCV001152302]|WFS1-related disorder [RCV004530177]|Wolfram syndrome 1 [RCV003147401]|not provided [RCV001722100]|not specified [RCV000198824] | Chr4:6302142 [GRCh38] Chr4:6303869 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) | single nucleotide variant | Cataract 41 [RCV002492911]|WFS1-related disorder [RCV004528985]|Wolfram-like syndrome [RCV002288801]|not provided [RCV000198858] | Chr4:6302458 [GRCh38] Chr4:6304185 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2666C>T (p.Ala889Val) | single nucleotide variant | not provided [RCV002918384] | Chr4:6302461 [GRCh38] Chr4:6304188 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001329514]|Cataract 41 [RCV000765779]|not provided [RCV000199078] | Chr4:6300962 [GRCh38] Chr4:6302689 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn) | single nucleotide variant | Wolfram syndrome 1 [RCV002509047]|not provided [RCV002517273]|not specified [RCV000195462] | Chr4:6300930 [GRCh38] Chr4:6302657 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) | single nucleotide variant | Wolfram-like syndrome [RCV001730586]|not provided [RCV000195490] | Chr4:6302049 [GRCh38] Chr4:6303776 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153150]|Cataract 41 [RCV000765780]|Hearing impairment [RCV001375054]|Inborn genetic diseases [RCV004020439]|Monogenic diabetes [RCV001174421]|Spastic ataxia [RCV001640297]|WFS1-Related Spectrum Disorders [RCV001153151]|WFS1-related disorder [RCV004530181]|not provided [RCV000488089]|not specified [RCV000603890] | Chr4:6301166 [GRCh38] Chr4:6302893 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) | single nucleotide variant | Cataract 41 [RCV002478695]|Wolfram syndrome 1 [RCV003126588]|not provided [RCV001705136] | Chr4:6277511 [GRCh38] Chr4:6279238 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) | single nucleotide variant | Wolfram syndrome 1 [RCV002509293]|not provided [RCV001853207]|not specified [RCV000199397] | Chr4:6300810 [GRCh38] Chr4:6302537 [GRCh37] Chr4:4p16.1 |
likely risk allele|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2222C>T (p.Ala741Val) | single nucleotide variant | not provided [RCV002576485] | Chr4:6302017 [GRCh38] Chr4:6303744 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2651T>A (p.Phe884Tyr) | single nucleotide variant | Wolfram syndrome 1 [RCV003128235]|not provided [RCV000195766] | Chr4:6302446 [GRCh38] Chr4:6304173 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) | single nucleotide variant | Cataract 41 [RCV002500615]|WFS1-related disorder [RCV004530179]|Wolfram syndrome 1 [RCV002509294]|not provided [RCV000727080] | Chr4:6300990 [GRCh38] Chr4:6302717 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.2492G>C (p.Gly831Ala) | single nucleotide variant | not provided [RCV003555147] | Chr4:6302287 [GRCh38] Chr4:6304014 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157140]|Cataract 41 [RCV000765775]|Inborn genetic diseases [RCV002517279]|Monogenic diabetes [RCV001174387]|WFS1-Related Spectrum Disorders [RCV001157139]|not provided [RCV000732080]|not specified [RCV000825496] | Chr4:6295056 [GRCh38] Chr4:6296783 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) | single nucleotide variant | Hearing impairment [RCV001375053]|WFS1-related disorder [RCV004530180]|not provided [RCV000199551] | Chr4:6301111 [GRCh38] Chr4:6302838 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) | deletion | Wolfram syndrome 1 [RCV001668365]|not provided [RCV000199613] | Chr4:6302437..6302438 [GRCh38] Chr4:6304164..6304165 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) | single nucleotide variant | Cataract 41 [RCV002485310]|Inborn genetic diseases [RCV002515447]|Meniere disease [RCV004567405]|not provided [RCV001857735]|not specified [RCV000601338] | Chr4:6300918 [GRCh38] Chr4:6302645 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) | single nucleotide variant | Cataract 41 [RCV000765783]|not provided [RCV000732082]|not specified [RCV000196092] | Chr4:6301428 [GRCh38] Chr4:6303155 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) | single nucleotide variant | not provided [RCV001853210]|not specified [RCV000196208] | Chr4:6277624 [GRCh38] Chr4:6279351 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) | single nucleotide variant | Autistic behavior [RCV000502304]|Autosomal dominant nonsyndromic hearing loss 6 [RCV001156283]|Cataract 41 [RCV002485311]|Inborn genetic diseases [RCV002517282]|WFS1-Related Spectrum Disorders [RCV001156284]|not provided [RCV000199675] | Chr4:6302398 [GRCh38] Chr4:6304125 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155846]|Inborn genetic diseases [RCV002517275]|Monogenic diabetes [RCV000445430]|WFS1-Related Spectrum Disorders [RCV001155847]|Wolfram syndrome 1 [RCV003227712]|not provided [RCV000726428]|not specified [RCV000199802] | Chr4:6301555 [GRCh38] Chr4:6303282 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) | deletion | Cataract 41 [RCV002478696]|Rare genetic deafness [RCV000611263]|WFS1-Related Spectrum Disorders [RCV001849340]|WFS1-related disorder [RCV004541271]|Wolfram syndrome 1 [RCV001843422]|not provided [RCV000199829] | Chr4:6301036..6301038 [GRCh38] Chr4:6302763..6302765 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153353]|Cataract 41 [RCV002485309]|Spastic ataxia [RCV001640296]|WFS1-Related Spectrum Disorders [RCV001153354]|Wolfram syndrome 1 [RCV003126584]|not provided [RCV000656991]|not specified [RCV000196354] | Chr4:6301764 [GRCh38] Chr4:6303491 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) | single nucleotide variant | Inborn genetic diseases [RCV002517274]|Monogenic diabetes [RCV000445413]|WFS1-Related Spectrum Disorders [RCV001157459]|not provided [RCV000945650]|not specified [RCV000200008] | Chr4:6301349 [GRCh38] Chr4:6303076 [GRCh37] Chr4:4p16.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002517280]|Monogenic diabetes [RCV001174422]|not provided [RCV000200051] | Chr4:6301405 [GRCh38] Chr4:6303132 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1772C>G (p.Ser591Cys) | single nucleotide variant | not specified [RCV000200170] | Chr4:6301567 [GRCh38] Chr4:6303294 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 | copy number loss | See cases [RCV000203431] | Chr4:44020..19796182 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV003147503]|not provided [RCV000518978] | Chr4:6302395 [GRCh38] Chr4:6304122 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) | single nucleotide variant | Cataract 41 [RCV002490902]|not provided [RCV000518926] | Chr4:6301944 [GRCh38] Chr4:6303671 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) | copy number loss | 4p partial monosomy syndrome [RCV000767672] | Chr4:75742..8672411 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) | single nucleotide variant | Rare genetic deafness [RCV000219504]|Wolfram-like syndrome [RCV000023513] | Chr4:6302303 [GRCh38] Chr4:6304030 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1395C>T (p.Ala465=) | single nucleotide variant | Wolfram syndrome 1 [RCV002463663]|not provided [RCV000878576]|not specified [RCV000219568] | Chr4:6301190 [GRCh38] Chr4:6302917 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.631+12C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509052]|not provided [RCV001522280]|not specified [RCV000223620] | Chr4:6291379 [GRCh38] Chr4:6293106 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000385208]|WFS1-Related Spectrum Disorders [RCV000344712]|Wolfram syndrome 1 [RCV003128236]|not provided [RCV001092548]|not specified [RCV000215408] | Chr4:6302080 [GRCh38] Chr4:6303807 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1552A>G (p.Met518Val) | single nucleotide variant | not provided [RCV001582739]|not specified [RCV000222121] | Chr4:6301347 [GRCh38] Chr4:6303074 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.375C>T (p.Thr125=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155341]|WFS1-Related Spectrum Disorders [RCV001155342]|Wolfram syndrome 1 [RCV002509053]|not provided [RCV002057162]|not specified [RCV000213245] | Chr4:6289046 [GRCh38] Chr4:6290773 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1479C>T (p.Val493=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126608]|not provided [RCV001722165]|not specified [RCV000219863] | Chr4:6301274 [GRCh38] Chr4:6303001 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156085]|WFS1-Related Spectrum Disorders [RCV001156086]|WFS1-related disorder [RCV004532750]|Wolfram syndrome 1 [RCV003128239]|not provided [RCV000993558]|not specified [RCV000220143] | Chr4:6302045 [GRCh38] Chr4:6303772 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile) | single nucleotide variant | Wolfram syndrome 1 [RCV003126610]|not specified [RCV000217826] | Chr4:6301177 [GRCh38] Chr4:6302904 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1020C>G (p.Phe340Leu) | single nucleotide variant | not specified [RCV000217887] | Chr4:6300815 [GRCh38] Chr4:6302542 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) | deletion | Monogenic diabetes [RCV001174417]|Rare genetic deafness [RCV000599633]|not provided [RCV000215662] | Chr4:6300854..6300856 [GRCh38] Chr4:6302581..6302583 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2355C>T (p.Ser785=) | single nucleotide variant | WFS1-related disorder [RCV004532751]|Wolfram syndrome 1 [RCV003147414]|not provided [RCV001668382]|not specified [RCV000217941] | Chr4:6302150 [GRCh38] Chr4:6303877 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) | single nucleotide variant | Cataract 41 [RCV002485411]|Inborn genetic diseases [RCV004020642]|Wolfram syndrome 1 [RCV002509310]|not provided [RCV001325067]|not specified [RCV000220517] | Chr4:6300786 [GRCh38] Chr4:6302513 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2638G>C (p.Asp880His) | single nucleotide variant | Inborn genetic diseases [RCV003362731]|not provided [RCV003736651] | Chr4:6302433 [GRCh38] Chr4:6304160 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.901G>A (p.Glu301Lys) | single nucleotide variant | Wolfram syndrome 1 [RCV002509525]|not provided [RCV000722241] | Chr4:6300696 [GRCh38] Chr4:6302423 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.996C>T (p.Ile332=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509309]|not specified [RCV000218368] | Chr4:6300791 [GRCh38] Chr4:6302518 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) | single nucleotide variant | Cataract 41 [RCV000765773]|Wolfram syndrome 1 [RCV002509054]|not provided [RCV002519659]|not specified [RCV000214251] | Chr4:6291271 [GRCh38] Chr4:6292998 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153154]|WFS1-Related Spectrum Disorders [RCV001153155]|Wolfram syndrome 1 [RCV003150109]|not provided [RCV000945710]|not specified [RCV000216086] | Chr4:6301194 [GRCh38] Chr4:6302921 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) | single nucleotide variant | Cataract 41 [RCV002485410]|not provided [RCV001857755]|not specified [RCV000220960] | Chr4:6302202 [GRCh38] Chr4:6303929 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) | single nucleotide variant | Cataract 41 [RCV002478782]|Wolfram syndrome 1 [RCV003148683]|not specified [RCV000222582] | Chr4:6302355 [GRCh38] Chr4:6304082 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) | single nucleotide variant | Wolfram syndrome 1 [RCV001838992]|Wolfram syndrome 1 [RCV003126611]|not provided [RCV001589140]|not specified [RCV000214468] | Chr4:6301488 [GRCh38] Chr4:6303215 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV003147416]|not provided [RCV000998220]|not specified [RCV000216280] | Chr4:6302427 [GRCh38] Chr4:6304154 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) | single nucleotide variant | not provided [RCV001393083]|not specified [RCV000218719] | Chr4:6302164 [GRCh38] Chr4:6303891 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) | single nucleotide variant | Cataract 41 [RCV002485409]|not specified [RCV000218792] | Chr4:6301500 [GRCh38] Chr4:6303227 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV002288843]|not provided [RCV001291575]|not specified [RCV000221182] | Chr4:6300832 [GRCh38] Chr4:6302559 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) | single nucleotide variant | Nonsyndromic Hearing Loss, Dominant [RCV000404067]|WFS1-Related Spectrum Disorders [RCV000311096]|Wolfram syndrome 1 [RCV003126607]|not provided [RCV001853422]|not specified [RCV000223036] | Chr4:6301085 [GRCh38] Chr4:6302812 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) | single nucleotide variant | Cataract 41 [RCV002494578]|Monogenic diabetes [RCV001174389]|not provided [RCV001853497]|not specified [RCV000214867] | Chr4:6300847 [GRCh38] Chr4:6302574 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) | single nucleotide variant | not provided [RCV002057181]|not specified [RCV000216669] | Chr4:6302201 [GRCh38] Chr4:6303928 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2575C>A (p.Arg859=) | single nucleotide variant | not specified [RCV000221575] | Chr4:6302370 [GRCh38] Chr4:6304097 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000266552]|WFS1-Related Spectrum Disorders [RCV000326197]|Wolfram syndrome 1 [RCV003148681]|not provided [RCV000870982]|not specified [RCV000214987] | Chr4:6302165 [GRCh38] Chr4:6303892 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000394887]|WFS1-Related Spectrum Disorders [RCV000299874]|not provided [RCV000946363]|not specified [RCV000219272] | Chr4:6277496 [GRCh38] Chr4:6279223 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.1194C>A (p.Gly398=) | single nucleotide variant | not provided [RCV002519622]|not specified [RCV000219435] | Chr4:6300989 [GRCh38] Chr4:6302716 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.712+20C>G | single nucleotide variant | not provided [RCV002185522] | Chr4:6292017 [GRCh38] Chr4:6293744 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2207G>A (p.Gly736Asp) | single nucleotide variant | not provided [RCV000756931] | Chr4:6302002 [GRCh38] Chr4:6303729 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1558C>G (p.Gln520Glu) | single nucleotide variant | Inborn genetic diseases [RCV002533800]|not provided [RCV000756933] | Chr4:6301353 [GRCh38] Chr4:6303080 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.601C>A (p.Leu201Met) | single nucleotide variant | Wolfram syndrome 1 [RCV002509092]|not provided [RCV000756935] | Chr4:6291337 [GRCh38] Chr4:6293064 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) | single nucleotide variant | Cataract 41 [RCV002479950]|Wolfram syndrome 1 [RCV002509055]|not provided [RCV001857836]|not specified [RCV000238677] | Chr4:6277624 [GRCh38] Chr4:6279351 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 | copy number loss | See cases [RCV000240003] | Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1 | copy number loss | See cases [RCV000239959] | Chr4:3776784..7361544 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) | single nucleotide variant | Rare genetic deafness [RCV000616575]|WFS1-related disorder [RCV004533263]|Wolfram syndrome 1 [RCV003148806]|not provided [RCV001092549] | Chr4:6302184 [GRCh38] Chr4:6303911 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain risk allele |
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 | copy number loss | See cases [RCV000239427] | Chr4:49450..8872474 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.132C>T (p.Pro44=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000267799]|WFS1-Related Spectrum Disorders [RCV000320494]|Wolfram syndrome 1 [RCV002509060]|not provided [RCV003546544] | Chr4:6277587 [GRCh38] Chr4:6279314 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.*683C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000278025]|WFS1-Related Spectrum Disorders [RCV000388760]|Wolfram syndrome 1 [RCV003126714] | Chr4:6303151 [GRCh38] Chr4:6304878 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000278650]|WFS1-Related Spectrum Disorders [RCV000388081]|Wolfram syndrome 1 [RCV003147449]|not provided [RCV000842423] | Chr4:6302231 [GRCh38] Chr4:6303958 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.*242G>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000377244]|WFS1-Related Spectrum Disorders [RCV000285131]|Wolfram syndrome 1 [RCV003126697] | Chr4:6302710 [GRCh38] Chr4:6304437 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) | single nucleotide variant | Cataract 41 [RCV002502346]|Diabetes mellitus [RCV001175324]|WFS1-Related Spectrum Disorders [RCV000285512]|not provided [RCV001861234] | Chr4:6301634 [GRCh38] Chr4:6303361 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000279459]|Cataract 41 [RCV002488769]|WFS1-Related Spectrum Disorders [RCV000319996]|not provided [RCV000998219] | Chr4:6302390 [GRCh38] Chr4:6304117 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1122C>G (p.Phe374Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV002509078]|not provided [RCV000519714] | Chr4:6300917 [GRCh38] Chr4:6302644 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) | single nucleotide variant | Cataract 41 [RCV002500904]|Wolfram syndrome 1 [RCV003126655]|not provided [RCV001403247]|not specified [RCV000248752] | Chr4:6301115 [GRCh38] Chr4:6302842 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*637T>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000270540]|WFS1-Related Spectrum Disorders [RCV000362796]|Wolfram syndrome 1 [RCV003126712] | Chr4:6303105 [GRCh38] Chr4:6304832 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 | copy number gain | See cases [RCV000240562] | Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_006005.3(WFS1):c.2364C>T (p.Asp788=) | single nucleotide variant | Wolfram syndrome 1 [RCV003148697]|not provided [RCV000949210]|not specified [RCV000246884] | Chr4:6302159 [GRCh38] Chr4:6303886 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2623G>A (p.Val875Met) | single nucleotide variant | Wolfram syndrome 1 [RCV003126656]|not specified [RCV000249383] | Chr4:6302418 [GRCh38] Chr4:6304145 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.168C>T (p.Asp56=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000271264]|WFS1-Related Spectrum Disorders [RCV000358930]|Wolfram syndrome 1 [RCV002509061]|not provided [RCV000871785] | Chr4:6277623 [GRCh38] Chr4:6279350 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 | copy number gain | See cases [RCV000240481] | Chr4:127233..8667610 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000323738]|WFS1-Related Spectrum Disorders [RCV000268583]|Wolfram syndrome 1 [RCV003126693]|not provided [RCV001795968] | Chr4:6301128 [GRCh38] Chr4:6302855 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1510C>A (p.Pro504Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV003126752]|not provided [RCV000487542] | Chr4:6301305 [GRCh38] Chr4:6303032 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151789]|WFS1-Related Spectrum Disorders [RCV001151790]|not provided [RCV001577332]|not specified [RCV000247636] | Chr4:6300929 [GRCh38] Chr4:6302656 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000370480]|Cataract 41 [RCV002480219]|WFS1-Related Spectrum Disorders [RCV000275825]|not provided [RCV001861235] | Chr4:6301933 [GRCh38] Chr4:6303660 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000380880]|Cataract 41 [RCV002502347]|WFS1-Related Spectrum Disorders [RCV000272522]|Wolfram syndrome 1 [RCV003148733]|not provided [RCV001861236] | Chr4:6302167 [GRCh38] Chr4:6303894 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-130C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000277097]|WFS1-Related Spectrum Disorders [RCV000369984]|Wolfram syndrome 1 [RCV002465628]|not provided [RCV002263626] | Chr4:6269890 [GRCh38] Chr4:6271617 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.1452T>C (p.Leu484=) | single nucleotide variant | not provided [RCV003718147]|not specified [RCV000248256] | Chr4:6301247 [GRCh38] Chr4:6302974 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.*366_*369del | deletion | Nonsyndromic Hearing Loss, Dominant [RCV000268947]|WFS1-Related Spectrum Disorders [RCV000326374]|Wolfram syndrome 1 [RCV003126705] | Chr4:6302834..6302837 [GRCh38] Chr4:6304561..6304564 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000298399]|WFS1-Related Spectrum Disorders [RCV000360155]|Wolfram syndrome 1 [RCV002509059]|not provided [RCV003137967] | Chr4:6277570 [GRCh38] Chr4:6279297 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.*91C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000397008]|WFS1-Related Spectrum Disorders [RCV000314379]|not provided [RCV001712333] | Chr4:6302559 [GRCh38] Chr4:6304286 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.*333C>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000315129]|WFS1-Related Spectrum Disorders [RCV000334933]|Wolfram syndrome 1 [RCV003126701] | Chr4:6302801 [GRCh38] Chr4:6304528 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2580C>T (p.His860=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000371575]|WFS1-Related Spectrum Disorders [RCV000333338]|not provided [RCV000879402]|not specified [RCV000611244] | Chr4:6302375 [GRCh38] Chr4:6304102 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.*700C>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000373505]|WFS1-Related Spectrum Disorders [RCV000316482]|Wolfram syndrome 1 [RCV003126715] | Chr4:6303168 [GRCh38] Chr4:6304895 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*567C>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000403353]|WFS1-Related Spectrum Disorders [RCV000336866]|Wolfram syndrome 1 [RCV003126710] | Chr4:6303035 [GRCh38] Chr4:6304762 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*604G>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000341007]|WFS1-Related Spectrum Disorders [RCV000302430] | Chr4:6303072 [GRCh38] Chr4:6304799 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.*149G>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000317741]|WFS1-Related Spectrum Disorders [RCV000356153]|not provided [RCV001712140] | Chr4:6302617 [GRCh38] Chr4:6304344 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000394859]|WFS1-Related Spectrum Disorders [RCV000357100]|Wolfram syndrome 1 [RCV002509058] | Chr4:6277525 [GRCh38] Chr4:6279252 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.*47T>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000393152]|WFS1-Related Spectrum Disorders [RCV000288103]|not provided [RCV001643058]|not specified [RCV000727866] | Chr4:6302515 [GRCh38] Chr4:6304242 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000304238]|Cataract 41 [RCV002502348]|Inborn genetic diseases [RCV002520262]|WFS1-Related Spectrum Disorders [RCV000403291]|not provided [RCV000489025] | Chr4:6302254 [GRCh38] Chr4:6303981 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2298C>A (p.His766Gln) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000290786]|WFS1-Related Spectrum Disorders [RCV000350469]|Wolfram syndrome 1 [RCV003151041] | Chr4:6302093 [GRCh38] Chr4:6303820 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.315+11C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000396764]|WFS1-Related Spectrum Disorders [RCV000305042]|Wolfram syndrome 1 [RCV002509062]|not provided [RCV002523474] | Chr4:6287186 [GRCh38] Chr4:6288913 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*274A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000408026]|WFS1-Related Spectrum Disorders [RCV000292459]|Wolfram syndrome 1 [RCV003126699]|not provided [RCV001653679] | Chr4:6302742 [GRCh38] Chr4:6304469 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*253G>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000380949]|WFS1-Related Spectrum Disorders [RCV000323988]|not provided [RCV001618624] | Chr4:6302721 [GRCh38] Chr4:6304448 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*54A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000406595]|WFS1-Related Spectrum Disorders [RCV000345360]|Wolfram syndrome 1 [RCV003128242]|not provided [RCV001643059] | Chr4:6302522 [GRCh38] Chr4:6304249 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*520G>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000294472]|WFS1-Related Spectrum Disorders [RCV000351770]|Wolfram syndrome 1 [RCV003126708] | Chr4:6302988 [GRCh38] Chr4:6304715 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.-141A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000309275]|WFS1-Related Spectrum Disorders [RCV000347836]|Wolfram syndrome 1 [RCV002465626]|not provided [RCV003437109] | Chr4:6269879 [GRCh38] Chr4:6271606 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000295015]|WFS1-Related Spectrum Disorders [RCV000348875]|Wolfram syndrome 1 [RCV002508932]|Wolfram syndrome 1 [RCV003227746]|not provided [RCV003546543]|not specified [RCV002248624] | Chr4:6277483 [GRCh38] Chr4:6279210 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.*90G>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000310820]|WFS1-Related Spectrum Disorders [RCV000367887]|not provided [RCV001653678] | Chr4:6302558 [GRCh38] Chr4:6304285 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000397077]|WFS1-Related Spectrum Disorders [RCV000311200]|not provided [RCV001555289]|not specified [RCV000612443] | Chr4:6301821 [GRCh38] Chr4:6303548 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*512C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000386534]|WFS1-Related Spectrum Disorders [RCV000329697]|Wolfram syndrome 1 [RCV003126707] | Chr4:6302980 [GRCh38] Chr4:6304707 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*288C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000349775]|WFS1-Related Spectrum Disorders [RCV000405094]|Wolfram syndrome 1 [RCV003126700] | Chr4:6302756 [GRCh38] Chr4:6304483 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2157C>T (p.Ala719=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000298215]|WFS1-Related Spectrum Disorders [RCV000353840]|Wolfram syndrome 1 [RCV003126694]|not provided [RCV000916957] | Chr4:6301952 [GRCh38] Chr4:6303679 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.975C>T (p.Asn325=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509056]|not provided [RCV000726076]|not specified [RCV000304909] | Chr4:6300770 [GRCh38] Chr4:6302497 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.*724_*727del | deletion | Nonsyndromic Hearing Loss, Dominant [RCV000338798]|WFS1-Related Spectrum Disorders [RCV000281452]|Wolfram syndrome 1 [RCV003126716] | Chr4:6303189..6303192 [GRCh38] Chr4:6304916..6304919 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) | single nucleotide variant | Cataract 41 [RCV002494843]|Inborn genetic diseases [RCV004021170]|Monogenic diabetes [RCV000445375]|WFS1-related disorder [RCV004535338]|not provided [RCV000585352] | Chr4:6301917 [GRCh38] Chr4:6303644 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr) | single nucleotide variant | Wolfram syndrome 1 [RCV003147443]|not provided [RCV000377710] | Chr4:6302344 [GRCh38] Chr4:6304071 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.-105T>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000371417]|WFS1-Related Spectrum Disorders [RCV000260447]|Wolfram syndrome 1 [RCV002465631] | Chr4:6269915 [GRCh38] Chr4:6271642 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.1947C>T (p.Phe649=) | single nucleotide variant | not provided [RCV000276447] | Chr4:6301742 [GRCh38] Chr4:6303469 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*506C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000383357]|WFS1-Related Spectrum Disorders [RCV000272626]|Wolfram syndrome 1 [RCV003126706] | Chr4:6302974 [GRCh38] Chr4:6304701 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.-55C>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000321748]|WFS1-Related Spectrum Disorders [RCV000283088] | Chr4:6269965 [GRCh38] Chr4:6271692 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1416C>A (p.Pro472=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126666]|not provided [RCV000312475] | Chr4:6301211 [GRCh38] Chr4:6302938 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) | single nucleotide variant | Cataract 41 [RCV002480014]|not provided [RCV000312654] | Chr4:6302415 [GRCh38] Chr4:6304142 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152090]|WFS1-Related Spectrum Disorders [RCV001152089]|not provided [RCV000280969] | Chr4:6301666 [GRCh38] Chr4:6303393 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.*683delinsTGGCTGTGGGGGA | indel | Nonsyndromic Hearing Loss, Dominant [RCV000274395]|WFS1-Related Spectrum Disorders [RCV000331804] | Chr4:6303151 [GRCh38] Chr4:6304878 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) | single nucleotide variant | Monogenic diabetes [RCV000664092]|WFS1-related disorder [RCV004543084]|Wolfram syndrome 1 [RCV002467719]|Wolfram syndrome 1 [RCV003126663]|not provided [RCV000725856]|not specified [RCV000354766] | Chr4:6301834 [GRCh38] Chr4:6303561 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2340C>A (p.Gly780=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000265146]|WFS1-Related Spectrum Disorders [RCV000355409]|Wolfram syndrome 1 [RCV003147448] | Chr4:6302135 [GRCh38] Chr4:6303862 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) | single nucleotide variant | not provided [RCV000374776] | Chr4:6300732 [GRCh38] Chr4:6302459 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) | single nucleotide variant | Cataract 41 [RCV002502148]|not provided [RCV001711862]|not specified [RCV000323516] | Chr4:6300938 [GRCh38] Chr4:6302665 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000320553]|WFS1-Related Spectrum Disorders [RCV000265550]|not provided [RCV003766010] | Chr4:6300894 [GRCh38] Chr4:6302621 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) | single nucleotide variant | Type 2 diabetes mellitus [RCV003227736]|not provided [RCV000724935] | Chr4:6302422 [GRCh38] Chr4:6304149 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) | single nucleotide variant | not provided [RCV000726324]|not specified [RCV000292988] | Chr4:6302165 [GRCh38] Chr4:6303892 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.*526A>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000371638]|WFS1-Related Spectrum Disorders [RCV000279361]|Wolfram syndrome 1 [RCV003126709] | Chr4:6302994 [GRCh38] Chr4:6304721 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.114C>T (p.Ser38=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156918]|WFS1-Related Spectrum Disorders [RCV001156919]|Wolfram syndrome 1 [RCV002509057]|not provided [RCV000878611]|not specified [RCV000302883] | Chr4:6277569 [GRCh38] Chr4:6279296 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) | single nucleotide variant | Cataract 41 [RCV002487286]|Wolfram syndrome 1 [RCV002509354]|not provided [RCV000370601] | Chr4:6300789 [GRCh38] Chr4:6302516 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2026C>A (p.Arg676Ser) | single nucleotide variant | not provided [RCV000489108] | Chr4:6301821 [GRCh38] Chr4:6303548 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.938A>C (p.His313Pro) | single nucleotide variant | not provided [RCV002285980] | Chr4:6300733 [GRCh38] Chr4:6302460 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2580C>G (p.His860Gln) | single nucleotide variant | not provided [RCV000487937] | Chr4:6302375 [GRCh38] Chr4:6304102 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1572C>G (p.Phe524Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV003126790]|not provided [RCV000523871] | Chr4:6301367 [GRCh38] Chr4:6303094 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000490380]|not provided [RCV001300481] | Chr4:6301641 [GRCh38] Chr4:6303368 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) | single nucleotide variant | Cataract 41 [RCV002489199]|WFS1-related disorder [RCV004527597]|Wolfram syndrome [RCV004017644]|not provided [RCV000489883] | Chr4:6301468 [GRCh38] Chr4:6303195 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) | single nucleotide variant | Cataract 41 [RCV002496882]|WFS1-related disorder [RCV004541536]|Wolfram syndrome 1 [RCV003126753]|not provided [RCV000488126] | Chr4:6301586 [GRCh38] Chr4:6303313 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) | deletion | Wolfram syndrome 1 [RCV003126754]|not provided [RCV000488192] | Chr4:6302002..6302005 [GRCh38] Chr4:6303729..6303732 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2061G>C (p.Gln687His) | single nucleotide variant | not provided [RCV000490103] | Chr4:6301856 [GRCh38] Chr4:6303583 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) | single nucleotide variant | not provided [RCV000490173] | Chr4:6301822 [GRCh38] Chr4:6303549 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1311C>T (p.Gly437=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000303795]|WFS1-Related Spectrum Disorders [RCV000358560]|Wolfram syndrome 1 [RCV003126692] | Chr4:6301106 [GRCh38] Chr4:6302833 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*365_*369del | deletion | Nonsyndromic Hearing Loss, Dominant [RCV000304463]|WFS1-Related Spectrum Disorders [RCV000361481]|Wolfram syndrome 1 [RCV003126704] | Chr4:6302830..6302834 [GRCh38] Chr4:6304557..6304561 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000388178]|WFS1-Related Spectrum Disorders [RCV000333607] | Chr4:6301594 [GRCh38] Chr4:6303321 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*605T>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000305800]|WFS1-Related Spectrum Disorders [RCV000403148]|Wolfram syndrome 1 [RCV003126711] | Chr4:6303073 [GRCh38] Chr4:6304800 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000307840]|WFS1-Related Spectrum Disorders [RCV000364583]|Wolfram syndrome 1 [RCV003147450]|not provided [RCV002057941] | Chr4:6302276 [GRCh38] Chr4:6304003 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.-133G>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000397359]|WFS1-Related Spectrum Disorders [RCV000308356]|Wolfram syndrome 1 [RCV002465627] | Chr4:6269887 [GRCh38] Chr4:6271614 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.*654G>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000366224]|WFS1-Related Spectrum Disorders [RCV000309170]|Wolfram syndrome 1 [RCV003126713] | Chr4:6303122 [GRCh38] Chr4:6304849 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.-100C>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000322692]|WFS1-Related Spectrum Disorders [RCV000379949] | Chr4:6269920 [GRCh38] Chr4:6271647 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1089G>A (p.Lys363=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509468]|not specified [RCV000599664] | Chr4:6300884 [GRCh38] Chr4:6302611 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*356_*357insTT | insertion | Nonsyndromic Hearing Loss, Dominant [RCV000299844]|WFS1-Related Spectrum Disorders [RCV000405832]|Wolfram syndrome 1 [RCV003126702] | Chr4:6302823..6302824 [GRCh38] Chr4:6304550..6304551 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-129A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000311162]|WFS1-Related Spectrum Disorders [RCV000368062]|Wolfram syndrome 1 [RCV002465629] | Chr4:6269891 [GRCh38] Chr4:6271618 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*258A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000288853]|WFS1-Related Spectrum Disorders [RCV000346119]|Wolfram syndrome 1 [RCV003126698] | Chr4:6302726 [GRCh38] Chr4:6304453 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.471C>T (p.Ser157=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509083]|not provided [RCV000877801] | Chr4:6291207 [GRCh38] Chr4:6292934 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.634G>A (p.Gly212Arg) | single nucleotide variant | WFS1-related disorder [RCV004530695]|Wolfram syndrome 1 [RCV002509079]|not provided [RCV000593925] | Chr4:6291919 [GRCh38] Chr4:6293646 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.498C>G (p.Leu166=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509090]|not provided [RCV000730089] | Chr4:6291234 [GRCh38] Chr4:6292961 [GRCh37] Chr4:4p16.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met) | single nucleotide variant | Type 2 diabetes mellitus [RCV001198043]|Wolfram syndrome 1 [RCV003126789]|not provided [RCV000520862] | Chr4:6301262 [GRCh38] Chr4:6302989 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) | single nucleotide variant | Cataract 41 [RCV002481734]|Wolfram syndrome 1 [RCV003126795]|not provided [RCV000520878] | Chr4:6301987 [GRCh38] Chr4:6303714 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1461C>T (p.Thr487=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126864]|not specified [RCV000601147] | Chr4:6301256 [GRCh38] Chr4:6302983 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1656C>A (p.Thr552=) | single nucleotide variant | not provided [RCV001712682] | Chr4:6301451 [GRCh38] Chr4:6303178 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.816C>T (p.Asp272=) | single nucleotide variant | Cataract 41 [RCV002483676]|Wolfram syndrome 1 [RCV002509464]|not provided [RCV002062136]|not specified [RCV000602954] | Chr4:6295144 [GRCh38] Chr4:6296871 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152404]|WFS1-Related Spectrum Disorders [RCV001152405]|Wolfram syndrome 1 [RCV003147593]|not provided [RCV002558325] | Chr4:6302309 [GRCh38] Chr4:6304036 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) | single nucleotide variant | Cataract 41 [RCV002507272]|Wolfram syndrome 1 [RCV003126922]|not provided [RCV000722473] | Chr4:6301978 [GRCh38] Chr4:6303705 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.726C>T (p.Ile242=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509460]|not provided [RCV000727378] | Chr4:6295054 [GRCh38] Chr4:6296781 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) | single nucleotide variant | Type 2 diabetes mellitus [RCV000626276]|Wolfram syndrome 1 [RCV002509088] | Chr4:6289001 [GRCh38] Chr4:6290728 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1149C>T (p.Arg383=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509091]|not provided [RCV000730231] | Chr4:6300944 [GRCh38] Chr4:6302671 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.884C>T (p.Ala295Val) | single nucleotide variant | not provided [RCV000732469] | Chr4:6300679 [GRCh38] Chr4:6302406 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV002509089]|not provided [RCV000729050] | Chr4:6277609 [GRCh38] Chr4:6279336 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV000714795]|Cataract 41 [RCV000765777]|Wolfram syndrome 1 [RCV000414884]|not provided [RCV001851006] | Chr4:6300874 [GRCh38] Chr4:6302601 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) | single nucleotide variant | Cataract 41 [RCV002477720]|WFS1-related disorder [RCV004535859]|not provided [RCV000732844] | Chr4:6301717 [GRCh38] Chr4:6303444 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) | single nucleotide variant | Cataract 41 [RCV002506007]|Hearing impairment [RCV000414885]|not provided [RCV002521447] | Chr4:6302232 [GRCh38] Chr4:6303959 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) | single nucleotide variant | Wolfram syndrome 1 [RCV000415192]|not provided [RCV002521464] | Chr4:6301986 [GRCh38] Chr4:6303713 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV002469144]|not provided [RCV000413912] | Chr4:6289047 [GRCh38] Chr4:6290774 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2385G>A (p.Glu795=) | single nucleotide variant | not provided [RCV000728079] | Chr4:6302180 [GRCh38] Chr4:6303907 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | not specified [RCV003986479] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 | copy number loss | See cases [RCV000449197] | Chr4:68345..20533787 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 | copy number loss | See cases [RCV000446287] | Chr4:68345..15197147 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 | copy number gain | See cases [RCV000446451] | Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 | copy number gain | See cases [RCV000447633] | Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.543G>C (p.Leu181=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509067]|not specified [RCV000420748] | Chr4:6291279 [GRCh38] Chr4:6293006 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1302C>T (p.Val434=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126722]|not provided [RCV000420773] | Chr4:6301097 [GRCh38] Chr4:6302824 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) | single nucleotide variant | Cataract 41 [RCV002488971]|Wolfram syndrome 1 [RCV003126735]|not provided [RCV000865092] | Chr4:6301601 [GRCh38] Chr4:6303328 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.231C>T (p.Thr77=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509068]|not provided [RCV001721437] | Chr4:6277686 [GRCh38] Chr4:6279413 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.924C>T (p.Ser308=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509383]|not provided [RCV000982187]|not specified [RCV000427602] | Chr4:6300719 [GRCh38] Chr4:6302446 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.-27C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002465651]|not specified [RCV000437981] | Chr4:6269993 [GRCh38] Chr4:6271720 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1923G>A (p.Thr641=) | single nucleotide variant | Wolfram syndrome 1 [RCV003128190]|not provided [RCV001459951]|not specified [RCV000441905] | Chr4:6301718 [GRCh38] Chr4:6303445 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.578A>G (p.Lys193Arg) | single nucleotide variant | Monogenic diabetes [RCV000445392]|Wolfram syndrome 1 [RCV002509071]|not provided [RCV001851111] | Chr4:6291314 [GRCh38] Chr4:6293041 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1896G>T (p.Met632Ile) | single nucleotide variant | Monogenic diabetes [RCV000445427]|Wolfram syndrome 1 [RCV003128192]|not provided [RCV001851112] | Chr4:6301691 [GRCh38] Chr4:6303418 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157339]|Monogenic diabetes [RCV000445460]|WFS1-Related Spectrum Disorders [RCV001157340]|Wolfram syndrome 1 [RCV002509384]|not provided [RCV000993556]|not specified [RCV000825498] | Chr4:6301060 [GRCh38] Chr4:6302787 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) | single nucleotide variant | Monogenic diabetes [RCV000445466]|Wolfram syndrome 1 [RCV002509072]|not provided [RCV000766821]|not specified [RCV000518948] | Chr4:6291932 [GRCh38] Chr4:6293659 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1761G>C (p.Arg587=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126726]|not provided [RCV002062625]|not specified [RCV000424281] | Chr4:6301556 [GRCh38] Chr4:6303283 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2589C>T (p.Ile863=) | single nucleotide variant | not provided [RCV000886060] | Chr4:6302384 [GRCh38] Chr4:6304111 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) | single nucleotide variant | Cataract 41 [RCV002502581]|not provided [RCV001721445] | Chr4:6302360 [GRCh38] Chr4:6304087 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) | single nucleotide variant | Meniere disease [RCV004567928]|Monogenic diabetes [RCV000445499]|WFS1-related disorder [RCV004529580]|Wolfram syndrome 1 [RCV002250628]|not provided [RCV001351930] | Chr4:6301848 [GRCh38] Chr4:6303575 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) | single nucleotide variant | Cataract 41 [RCV002488989]|Monogenic diabetes [RCV000445526]|Wolfram syndrome 1 [RCV002509070] | Chr4:6277627 [GRCh38] Chr4:6279354 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.667C>A (p.Leu223Met) | single nucleotide variant | Monogenic diabetes [RCV000445527]|Wolfram syndrome 1 [RCV002509073] | Chr4:6291952 [GRCh38] Chr4:6293679 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1868T>A (p.Met623Lys) | single nucleotide variant | Monogenic diabetes [RCV000445535]|Wolfram syndrome 1 [RCV003126740]|not provided [RCV001861647] | Chr4:6301663 [GRCh38] Chr4:6303390 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.129A>T (p.Ala43=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509066]|not provided [RCV001704317] | Chr4:6277584 [GRCh38] Chr4:6279311 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.316-14T>C | single nucleotide variant | Cataract 41 [RCV002488931]|not provided [RCV002062781]|not specified [RCV000439042] | Chr4:6288973 [GRCh38] Chr4:6290700 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) | single nucleotide variant | Cataract 41 [RCV002488895]|WFS1-related disorder [RCV004539787]|Wolfram syndrome 1 [RCV003147453]|not provided [RCV000872828] | Chr4:6302417 [GRCh38] Chr4:6304144 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) | single nucleotide variant | Cataract 41 [RCV002488955]|Wolfram syndrome 1 [RCV003126734]|not provided [RCV000872583]|not specified [RCV000432861] | Chr4:6301565 [GRCh38] Chr4:6303292 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1740G>A (p.Val580=) | single nucleotide variant | not provided [RCV001704539]|not specified [RCV000432930] | Chr4:6301535 [GRCh38] Chr4:6303262 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.69G>A (p.Ala23=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509065]|not provided [RCV001698243] | Chr4:6277524 [GRCh38] Chr4:6279251 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) | single nucleotide variant | Cataract 41 [RCV002481317]|Wolfram syndrome 1 [RCV003128191]|not provided [RCV002521794]|not specified [RCV000433100] | Chr4:6301724 [GRCh38] Chr4:6303451 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1350T>C (p.His450=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126723]|not specified [RCV000420336] | Chr4:6301145 [GRCh38] Chr4:6302872 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.342C>T (p.Ala114=) | single nucleotide variant | Cataract 41 [RCV002502588]|WFS1-related disorder [RCV004539910]|Wolfram syndrome 1 [RCV002509069]|not provided [RCV000872226]|not specified [RCV000430540] | Chr4:6289013 [GRCh38] Chr4:6290740 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2310C>T (p.Phe770=) | single nucleotide variant | Wolfram syndrome 1 [RCV003128243]|not provided [RCV000973844]|not specified [RCV000434111] | Chr4:6302105 [GRCh38] Chr4:6303832 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser) | single nucleotide variant | not provided [RCV000440768] | Chr4:6301965 [GRCh38] Chr4:6303692 [GRCh37] Chr4:4p16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 | copy number loss | See cases [RCV000448933] | Chr4:71552..15302739 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 | copy number loss | See cases [RCV000512104] | Chr4:68345..10336032 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.124del (p.Arg42fs) | deletion | Wolfram syndrome 1 [RCV002509074]|not provided [RCV000479033] | Chr4:6277576 [GRCh38] Chr4:6279303 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) | single nucleotide variant | Wolfram syndrome 1 [RCV002469171]|not provided [RCV000486801] | Chr4:6291341 [GRCh38] Chr4:6293068 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.291C>T (p.Ala97=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509075]|not provided [RCV001857185]|not specified [RCV000503242] | Chr4:6287151 [GRCh38] Chr4:6288878 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV003335435]|Cataract 41 [RCV002506232]|Wolfram syndrome 1 [RCV003233655]|Wolfram syndrome [RCV000503566]|Wolfram-like syndrome [RCV001849390]|not provided [RCV001857186] | Chr4:6302449 [GRCh38] Chr4:6304176 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.966C>T (p.His322=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155564]|WFS1-Related Spectrum Disorders [RCV001155563]|WFS1-related disorder [RCV004535626]|Wolfram syndrome 1 [RCV002509076]|not provided [RCV000951748]|not specified [RCV000499529] | Chr4:6300761 [GRCh38] Chr4:6302488 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 | copy number loss | See cases [RCV000510662] | Chr4:68345..15973383 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
NM_006005.3(WFS1):c.2540G>A (p.Cys847Tyr) | single nucleotide variant | Autistic behavior [RCV000500223]|Wolfram syndrome 1 [RCV003147488]|not provided [RCV000519327] | Chr4:6302335 [GRCh38] Chr4:6304062 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 | copy number gain | See cases [RCV000510565] | Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV003126758]|not provided [RCV000498226] | Chr4:6301984 [GRCh38] Chr4:6303711 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1607T>A (p.Val536Glu) | single nucleotide variant | Wolfram syndrome 1 [RCV003126759]|not provided [RCV000498432] | Chr4:6301402 [GRCh38] Chr4:6303129 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) | single nucleotide variant | not provided [RCV000493450] | Chr4:6300877 [GRCh38] Chr4:6302604 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 | copy number loss | See cases [RCV000511351] | Chr4:68345..13770107 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) | microsatellite | Cataract 41 [RCV002481565]|See cases [RCV002252138]|WFS1-Related Spectrum Disorders [RCV000778738]|WFS1-related disorder [RCV004535551]|Wolfram syndrome 1 [RCV001672804]|not provided [RCV000494474] | Chr4:6301023..6301026 [GRCh38] Chr4:6302750..6302753 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2074C>T (p.His692Tyr) | single nucleotide variant | Wolfram syndrome 1 [RCV003126755]|not provided [RCV000494489] | Chr4:6301869 [GRCh38] Chr4:6303596 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV003335407]|not provided [RCV000494515] | Chr4:6302206 [GRCh38] Chr4:6303933 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) | single nucleotide variant | Cataract 41 [RCV000765784]|not provided [RCV000506948] | Chr4:6301519 [GRCh38] Chr4:6303246 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
Single allele | variation | not specified [RCV000507010] | Chr4:6303908..6303909 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 | copy number gain | See cases [RCV000511193] | Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1 |
pathogenic |
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) | single nucleotide variant | not provided [RCV000730495] | Chr4:6277628 [GRCh38] Chr4:6279355 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1014C>T (p.Ile338=) | single nucleotide variant | not provided [RCV000597457] | Chr4:6300809 [GRCh38] Chr4:6302536 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2001G>C (p.Gln667His) | single nucleotide variant | not provided [RCV000585072] | Chr4:6301796 [GRCh38] Chr4:6303523 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1084C>T (p.Leu362Phe) | single nucleotide variant | Inborn genetic diseases [RCV003295551] | Chr4:6300879 [GRCh38] Chr4:6302606 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2397C>G (p.Thr799=) | single nucleotide variant | WFS1-related disorder [RCV004530749]|Wolfram syndrome 1 [RCV003148802]|not provided [RCV002062897]|not specified [RCV000605848] | Chr4:6302192 [GRCh38] Chr4:6303919 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.642G>A (p.Ala214=) | single nucleotide variant | Cataract 41 [RCV002498926]|Wolfram syndrome 1 [RCV002509082]|not provided [RCV000873315]|not specified [RCV000600994] | Chr4:6291927 [GRCh38] Chr4:6293654 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.787C>T (p.Leu263=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509084]|not provided [RCV002528583]|not specified [RCV000607667] | Chr4:6295115 [GRCh38] Chr4:6296842 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1335G>C (p.Leu445=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126871]|not provided [RCV000876767]|not specified [RCV000607704] | Chr4:6301130 [GRCh38] Chr4:6302857 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1818G>A (p.Val606=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126858]|not specified [RCV000602464] | Chr4:6301613 [GRCh38] Chr4:6303340 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153484]|WFS1-Related Spectrum Disorders [RCV001153485]|WFS1-related disorder [RCV004544798]|Wolfram syndrome 1 [RCV003126869]|not provided [RCV001704817] | Chr4:6302003 [GRCh38] Chr4:6303730 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155566]|WFS1-Related Spectrum Disorders [RCV001155565]|not provided [RCV001558737]|not specified [RCV000609447] | Chr4:6300780 [GRCh38] Chr4:6302507 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) | single nucleotide variant | Cataract 41 [RCV002491248]|WFS1-related disorder [RCV004530750]|Wolfram syndrome 1 [RCV003128193]|not provided [RCV000949208] | Chr4:6301880 [GRCh38] Chr4:6303607 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.132C>A (p.Pro44=) | single nucleotide variant | WFS1-related disorder [RCV004530747]|not provided [RCV002062855]|not specified [RCV000609785] | Chr4:6277587 [GRCh38] Chr4:6279314 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.754A>G (p.Lys252Glu) | single nucleotide variant | Wolfram syndrome 1 [RCV002509466]|not specified [RCV000612590] | Chr4:6295082 [GRCh38] Chr4:6296809 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) | single nucleotide variant | Cataract 41 [RCV000765778]|Monogenic diabetes [RCV001174418]|not provided [RCV000762133]|not specified [RCV000615343] | Chr4:6300919 [GRCh38] Chr4:6302646 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV003128249]|not specified [RCV000615392] | Chr4:6302225 [GRCh38] Chr4:6303952 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) | single nucleotide variant | Inborn genetic diseases [RCV002532738]|Wolfram syndrome 1 [RCV003126842]|not provided [RCV001366053]|not specified [RCV000615776] | Chr4:6301501 [GRCh38] Chr4:6303228 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.220G>A (p.Ala74Thr) | single nucleotide variant | not provided [RCV003312600] | Chr4:6277675 [GRCh38] Chr4:6279402 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) | single nucleotide variant | WFS1-related disorder [RCV004530733]|Wolfram syndrome 1 [RCV002509080]|not provided [RCV002532737]|not specified [RCV000612750] | Chr4:6295120 [GRCh38] Chr4:6296847 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.436C>T (p.Arg146Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV002509085]|not specified [RCV000612852] | Chr4:6289107 [GRCh38] Chr4:6290834 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.1242C>T (p.Phe414=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509471]|not provided [RCV002065384]|not specified [RCV000616090] | Chr4:6301037 [GRCh38] Chr4:6302764 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151989]|WFS1-Related Spectrum Disorders [RCV001151988]|Wolfram syndrome 1 [RCV003126866]|not provided [RCV001718966] | Chr4:6301451 [GRCh38] Chr4:6303178 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2278C>A (p.Leu760Met) | single nucleotide variant | Inborn genetic diseases [RCV002529364]|Wolfram syndrome 1 [RCV003128248]|not provided [RCV001860258]|not specified [RCV000610637] | Chr4:6302073 [GRCh38] Chr4:6303800 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.771C>T (p.Gly257=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509469]|not provided [RCV002064060]|not specified [RCV000610763] | Chr4:6295099 [GRCh38] Chr4:6296826 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) | single nucleotide variant | Wolfram syndrome 1 [RCV003126844]|not provided [RCV002529336]|not specified [RCV000608372] | Chr4:6301564 [GRCh38] Chr4:6303291 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.889A>G (p.Met297Val) | single nucleotide variant | Cataract 41 [RCV002491238]|Wolfram syndrome 1 [RCV002509467]|not provided [RCV002508236]|not specified [RCV000611113] | Chr4:6300684 [GRCh38] Chr4:6302411 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1503C>T (p.Val501=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126865]|not provided [RCV000914401]|not specified [RCV000613935] | Chr4:6301298 [GRCh38] Chr4:6303025 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.345C>T (p.Gly115=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155340]|WFS1-Related Spectrum Disorders [RCV001155339]|Wolfram syndrome 1 [RCV002509081]|not provided [RCV001722603] | Chr4:6289016 [GRCh38] Chr4:6290743 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.-4C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002472311]|not specified [RCV000608618] | Chr4:6277452 [GRCh38] Chr4:6279179 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala) | single nucleotide variant | Wolfram syndrome 1 [RCV003126843]|not specified [RCV000614284] | Chr4:6301263 [GRCh38] Chr4:6302990 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1204C>T (p.Leu402=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509472]|not provided [RCV002064214]|not specified [RCV000609060] | Chr4:6300999 [GRCh38] Chr4:6302726 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.831G>A (p.Lys277=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509474]|not provided [RCV000827310]|not specified [RCV000611723] | Chr4:6295159 [GRCh38] Chr4:6296886 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) | single nucleotide variant | Cataract 41 [RCV002498982]|Wolfram syndrome 1 [RCV002509473]|not specified [RCV000614845] | Chr4:6301005 [GRCh38] Chr4:6302732 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.477C>T (p.Asn159=) | single nucleotide variant | Cataract 41 [RCV002498986]|Wolfram syndrome 1 [RCV002509086]|not provided [RCV001568880]|not specified [RCV000614885] | Chr4:6291213 [GRCh38] Chr4:6292940 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) | single nucleotide variant | Wolfram syndrome 1 [RCV003126870]|not provided [RCV001860339]|not specified [RCV000599723] | Chr4:6277580 [GRCh38] Chr4:6279307 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) | single nucleotide variant | not provided [RCV000512770]|not specified [RCV000825267] | Chr4:6302154 [GRCh38] Chr4:6303881 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.594G>A (p.Ala198=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509087]|not provided [RCV000827309]|not specified [RCV000605696] | Chr4:6291330 [GRCh38] Chr4:6293057 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) | single nucleotide variant | Cataract 41 [RCV002498906]|WFS1-related disorder [RCV004530761]|Wolfram syndrome 1 [RCV003126855]|not provided [RCV001697364] | Chr4:6301214 [GRCh38] Chr4:6302941 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1536C>T (p.Leu512=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126840]|not provided [RCV000596732] | Chr4:6301331 [GRCh38] Chr4:6303058 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.2358C>T (p.Gly786=) | single nucleotide variant | Wolfram syndrome 1 [RCV003148804]|not provided [RCV000871916] | Chr4:6302153 [GRCh38] Chr4:6303880 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.958C>T (p.Pro320Ser) | single nucleotide variant | Wolfram syndrome 1 [RCV002509077]|not provided [RCV000513421] | Chr4:6300753 [GRCh38] Chr4:6302480 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_006005.3(WFS1):c.2337G>C (p.Val779=) | single nucleotide variant | not provided [RCV000513574] | Chr4:6302132 [GRCh38] Chr4:6303859 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2516T>C (p.Val839Ala) | single nucleotide variant | Wolfram syndrome 1 [RCV003147519]|not provided [RCV002529322]|not specified [RCV000606633] | Chr4:6302311 [GRCh38] Chr4:6304038 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2296C>G (p.His766Asp) | single nucleotide variant | not provided [RCV000658990] | Chr4:6302091 [GRCh38] Chr4:6303818 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.361C>T (p.Leu121Phe) | single nucleotide variant | not provided [RCV000658088] | Chr4:6289032 [GRCh38] Chr4:6290759 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | not provided [RCV000682363] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 | copy number loss | not provided [RCV000682373] | Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) | microsatellite | Wolfram syndrome 1 [RCV002509508]|not provided [RCV000681944] | Chr4:6300841..6300843 [GRCh38] Chr4:6302568..6302570 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) | deletion | Cataract 41 [RCV002499212]|Wolfram syndrome 1 [RCV001712777]|not provided [RCV000681953] | Chr4:6302436..6302439 [GRCh38] Chr4:6304163..6304166 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV001806811]|not provided [RCV001814605] | Chr4:6289068 [GRCh38] Chr4:6290795 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.*1G>C | single nucleotide variant | not provided [RCV001567732] | Chr4:6302469 [GRCh38] Chr4:6304196 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 | copy number gain | not provided [RCV000743201] | Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 | copy number gain | not provided [RCV000743154] | Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
NM_006005.3(WFS1):c.1291G>C (p.Glu431Gln) | single nucleotide variant | Wolfram syndrome 1 [RCV001647212] | Chr4:6301086 [GRCh38] Chr4:6302813 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) | single nucleotide variant | Cataract 41 [RCV002493510]|Wolfram syndrome 1 [RCV002509650]|not provided [RCV001776169] | Chr4:6300833 [GRCh38] Chr4:6302560 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.-5-131C>T | single nucleotide variant | not provided [RCV001668931] | Chr4:6277320 [GRCh38] Chr4:6279047 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1107_1108insA (p.Ala370fs) | insertion | Wolfram syndrome 1 [RCV001667854] | Chr4:6300902..6300903 [GRCh38] Chr4:6302629..6302630 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.528_531dup (p.Lys178fs) | microsatellite | Wolfram syndrome 1 [RCV001667858] | Chr4:6291263..6291264 [GRCh38] Chr4:6292990..6292991 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+143C>G | single nucleotide variant | not provided [RCV001666644] | Chr4:6291510 [GRCh38] Chr4:6293237 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.439del (p.Arg147fs) | deletion | Wolfram syndrome 1 [RCV000760988] | Chr4:6289109 [GRCh38] Chr4:6290836 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) | microsatellite | See cases [RCV002252232]|Wolfram syndrome 1 [RCV000761346]|not provided [RCV001561058] | Chr4:6291304..6291306 [GRCh38] Chr4:6293031..6293033 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.981C>T (p.Leu327=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509529]|not provided [RCV000762132] | Chr4:6300776 [GRCh38] Chr4:6302503 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1653C>A (p.Ser551=) | single nucleotide variant | not provided [RCV000762134] | Chr4:6301448 [GRCh38] Chr4:6303175 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2350A>T (p.Ser784Cys) | single nucleotide variant | not provided [RCV000762135] | Chr4:6302145 [GRCh38] Chr4:6303872 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1174C>T (p.Gln392Ter) | single nucleotide variant | not provided [RCV000760394] | Chr4:6300969 [GRCh38] Chr4:6302696 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1309G>C (p.Gly437Arg) | single nucleotide variant | not provided [RCV001564069] | Chr4:6301104 [GRCh38] Chr4:6302831 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.461-244C>T | single nucleotide variant | not provided [RCV001545996] | Chr4:6290953 [GRCh38] Chr4:6292680 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) | single nucleotide variant | Cataract 41 [RCV002493715]|Spastic ataxia [RCV001647248] | Chr4:6289072 [GRCh38] Chr4:6290799 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.232+45T>C | single nucleotide variant | not provided [RCV001566403] | Chr4:6277732 [GRCh38] Chr4:6279459 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.393C>T (p.Val131=) | single nucleotide variant | Cataract 41 [RCV002476881]|not provided [RCV001575356] | Chr4:6289064 [GRCh38] Chr4:6290791 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2141_2164del (p.Asn714_Asn721del) | deletion | Wolfram syndrome 1 [RCV003448859]|not provided [RCV003732589] | Chr4:6301933..6301956 [GRCh38] Chr4:6303660..6303683 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.461-169_461-168insAGGGGCATGGC | insertion | not provided [RCV001612778] | Chr4:6291024..6291025 [GRCh38] Chr4:6292751..6292752 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.71G>A (p.Arg24His) | single nucleotide variant | Cataract 41 [RCV002488370]|not provided [RCV001550019] | Chr4:6277526 [GRCh38] Chr4:6279253 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1893C>T (p.Ser631=) | single nucleotide variant | Wolfram syndrome 1 [RCV003128194]|not provided [RCV000898352] | Chr4:6301688 [GRCh38] Chr4:6303415 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.801C>T (p.Asp267=) | single nucleotide variant | Cataract 41 [RCV002495325]|Wolfram syndrome 1 [RCV002509108]|not provided [RCV000877251] | Chr4:6295129 [GRCh38] Chr4:6296856 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.363C>T (p.Leu121=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509109]|not provided [RCV000878734] | Chr4:6289034 [GRCh38] Chr4:6290761 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1884G>A (p.Thr628=) | single nucleotide variant | WFS1-related disorder [RCV004533649]|Wolfram syndrome 1 [RCV003127554]|not provided [RCV000951502] | Chr4:6301679 [GRCh38] Chr4:6303406 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.417C>G (p.Arg139=) | single nucleotide variant | WFS1-related disorder [RCV004533622]|not provided [RCV000946034] | Chr4:6289088 [GRCh38] Chr4:6290815 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1863G>C (p.Val621=) | single nucleotide variant | Wolfram syndrome 1 [RCV003127538]|not provided [RCV000880097] | Chr4:6301658 [GRCh38] Chr4:6303385 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2445C>G (p.Leu815=) | single nucleotide variant | Wolfram syndrome 1 [RCV003128261]|not provided [RCV000946207] | Chr4:6302240 [GRCh38] Chr4:6303967 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) | single nucleotide variant | Cataract 41 [RCV002495472]|Wolfram syndrome 1 [RCV003147565]|not provided [RCV000904510] | Chr4:6302402 [GRCh38] Chr4:6304129 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157877]|WFS1-Related Spectrum Disorders [RCV001157878]|WFS1-related disorder [RCV004533549]|not provided [RCV000921941] | Chr4:6302261 [GRCh38] Chr4:6303988 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) | single nucleotide variant | Cataract 41 [RCV002502637]|Wolfram syndrome 1 [RCV002509577]|not provided [RCV000898449] | Chr4:6301028 [GRCh38] Chr4:6302755 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2631C>T (p.Phe877=) | single nucleotide variant | Wolfram syndrome 1 [RCV003147567]|not provided [RCV000950921] | Chr4:6302426 [GRCh38] Chr4:6304153 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) | single nucleotide variant | Cataract 41 [RCV002479087]|Wolfram syndrome 1 [RCV003127553]|not provided [RCV000945765] | Chr4:6301475 [GRCh38] Chr4:6303202 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1173G>A (p.Glu391=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509578]|not provided [RCV000900083] | Chr4:6300968 [GRCh38] Chr4:6302695 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2032T>G (p.Trp678Gly) | single nucleotide variant | Wolfram syndrome 1 [RCV003127480]|not specified [RCV000825501] | Chr4:6301827 [GRCh38] Chr4:6303554 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2531C>T (p.Ala844Val) | single nucleotide variant | Spastic ataxia [RCV001644837]|not provided [RCV001858398]|not specified [RCV000825502] | Chr4:6302326 [GRCh38] Chr4:6304053 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.315+12G>A | single nucleotide variant | Wolfram syndrome 1 [RCV002509093]|not provided [RCV000827401] | Chr4:6287187 [GRCh38] Chr4:6288914 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1836G>A (p.Trp612Ter) | single nucleotide variant | WFS1-Related Spectrum Disorders [RCV000778740]|not provided [RCV003546599] | Chr4:6301631 [GRCh38] Chr4:6303358 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.234G>C (p.Gly78=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509113]|not provided [RCV000939697] | Chr4:6287094 [GRCh38] Chr4:6288821 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1893C>A (p.Ser631=) | single nucleotide variant | not provided [RCV000929605] | Chr4:6301688 [GRCh38] Chr4:6303415 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2625G>A (p.Val875=) | single nucleotide variant | Wolfram syndrome 1 [RCV003147566]|not provided [RCV000938798] | Chr4:6302420 [GRCh38] Chr4:6304147 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.57G>A (p.Pro19=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509114]|not provided [RCV000982666] | Chr4:6277512 [GRCh38] Chr4:6279239 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2445C>T (p.Leu815=) | single nucleotide variant | not provided [RCV000959181] | Chr4:6302240 [GRCh38] Chr4:6303967 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1125C>T (p.Arg375=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509111]|not provided [RCV000922275] | Chr4:6300920 [GRCh38] Chr4:6302647 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.712+8C>T | single nucleotide variant | Cataract 41 [RCV002495248]|Wolfram syndrome 1 [RCV002509107]|not provided [RCV000865400]|not specified [RCV001816972] | Chr4:6292005 [GRCh38] Chr4:6293732 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.399C>T (p.Ala133=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509112]|not provided [RCV000927396] | Chr4:6289070 [GRCh38] Chr4:6290797 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) | single nucleotide variant | Cataract 41 [RCV002505402]|Wolfram syndrome 1 [RCV003128196]|not provided [RCV000945380] | Chr4:6302081 [GRCh38] Chr4:6303808 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1362C>T (p.Tyr454=) | single nucleotide variant | not provided [RCV000892557] | Chr4:6301157 [GRCh38] Chr4:6302884 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.232+90G>A | single nucleotide variant | Wolfram syndrome 1 [RCV002509101]|not provided [RCV000835873] | Chr4:6277777 [GRCh38] Chr4:6279504 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2466C>A (p.Leu822=) | single nucleotide variant | WFS1-related disorder [RCV004538149]|Wolfram syndrome 1 [RCV003147561]|not provided [RCV000836063] | Chr4:6302261 [GRCh38] Chr4:6303988 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.316-235C>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509102]|not provided [RCV000836128] | Chr4:6288752 [GRCh38] Chr4:6290479 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1191C>T (p.Phe397=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509568]|not provided [RCV000842424] | Chr4:6300986 [GRCh38] Chr4:6302713 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.417C>T (p.Arg139=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509105]|not provided [RCV000842658] | Chr4:6289088 [GRCh38] Chr4:6290815 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.461-166_461-165insCA | insertion | Wolfram syndrome 1 [RCV002509096]|not provided [RCV000829434] | Chr4:6291031..6291032 [GRCh38] Chr4:6292758..6292759 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.712+195C>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509097]|not provided [RCV000829449] | Chr4:6292192 [GRCh38] Chr4:6293919 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.712+243G>A | single nucleotide variant | not provided [RCV000829450] | Chr4:6292240 [GRCh38] Chr4:6293967 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2334C>T (p.Thr778=) | single nucleotide variant | Wolfram syndrome 1 [RCV003147558]|not provided [RCV002062202]|not specified [RCV000825266] | Chr4:6302129 [GRCh38] Chr4:6303856 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.713-321G>T | single nucleotide variant | not provided [RCV000832462] | Chr4:6294720 [GRCh38] Chr4:6296447 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.461-91G>A | single nucleotide variant | Wolfram syndrome 1 [RCV002509103]|not provided [RCV000836415] | Chr4:6291106 [GRCh38] Chr4:6292833 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV002509116]|not provided [RCV000998213] | Chr4:6291265 [GRCh38] Chr4:6292992 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.712+1G>A | single nucleotide variant | not provided [RCV000998214] | Chr4:6291998 [GRCh38] Chr4:6293725 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2576G>T (p.Arg859Leu) | single nucleotide variant | not provided [RCV000998218] | Chr4:6302371 [GRCh38] Chr4:6304098 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1236C>T (p.Val412=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509558]|not provided [RCV002067410]|not specified [RCV000825265] | Chr4:6301031 [GRCh38] Chr4:6302758 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.862-164C>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509562]|not provided [RCV000829452] | Chr4:6300493 [GRCh38] Chr4:6302220 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.-264A>G | single nucleotide variant | Wolfram syndrome 1 [RCV002465802]|not provided [RCV000838623] | Chr4:6269756 [GRCh38] Chr4:6271483 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.747G>A (p.Glu249=) | single nucleotide variant | Cataract 41 [RCV002487989]|Wolfram syndrome 1 [RCV002509579]|not provided [RCV000914468] | Chr4:6295075 [GRCh38] Chr4:6296802 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1080C>T (p.Cys360=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509580]|not provided [RCV000914480] | Chr4:6300875 [GRCh38] Chr4:6302602 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.-331G>T | single nucleotide variant | not provided [RCV000844553] | Chr4:6269689 [GRCh38] Chr4:6271416 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.461-281G>C | single nucleotide variant | Wolfram syndrome 1 [RCV002509106]|not provided [RCV000844554] | Chr4:6290916 [GRCh38] Chr4:6292643 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.631+256T>C | single nucleotide variant | not provided [RCV000844555] | Chr4:6291623 [GRCh38] Chr4:6293350 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.712+277A>G | single nucleotide variant | not provided [RCV000844557] | Chr4:6292274 [GRCh38] Chr4:6294001 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-915C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509572]|not provided [RCV000844564] | Chr4:6294126 [GRCh38] Chr4:6295853 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-783G>A | single nucleotide variant | Wolfram syndrome 1 [RCV002509573]|not provided [RCV000844565] | Chr4:6294258 [GRCh38] Chr4:6295985 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.316-37C>T | single nucleotide variant | not provided [RCV000835317] | Chr4:6288950 [GRCh38] Chr4:6290677 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.396C>T (p.Leu132=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509094]|not provided [RCV000827603] | Chr4:6289067 [GRCh38] Chr4:6290794 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 | copy number loss | not provided [RCV000845896] | Chr4:3374195..13468480 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_006005.3(WFS1):c.713-993C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509564]|not provided [RCV000830651] | Chr4:6294048 [GRCh38] Chr4:6295775 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.396C>G (p.Leu132=) | single nucleotide variant | not provided [RCV000998212] | Chr4:6289067 [GRCh38] Chr4:6290794 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.713-1018A>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509560]|not provided [RCV000828674] | Chr4:6294023 [GRCh38] Chr4:6295750 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151494]|WFS1-Related Spectrum Disorders [RCV001151493]|Wolfram syndrome 1 [RCV002509118]|Wolfram syndrome 1 [RCV003336307]|not provided [RCV001571953] | Chr4:6277631 [GRCh38] Chr4:6279358 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 | copy number loss | not provided [RCV001005519] | Chr4:5914109..17264668 [GRCh37] Chr4:4p16.2-15.32 |
likely pathogenic |
NM_006005.3(WFS1):c.1674C>G (p.Arg558=) | single nucleotide variant | not specified [RCV000825264] | Chr4:6301469 [GRCh38] Chr4:6303196 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 | copy number gain | not provided [RCV001005510] | Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 | copy number loss | not provided [RCV001005512] | Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 | copy number loss | See cases [RCV001007422] | Chr4:49450..24280482 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
NM_006005.3(WFS1):c.-43G>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151390]|WFS1-Related Spectrum Disorders [RCV001151389]|Wolfram syndrome 1 [RCV002465834]|not provided [RCV001882467] | Chr4:6269977 [GRCh38] Chr4:6271704 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.461-208G>C | single nucleotide variant | Wolfram syndrome 1 [RCV002509095]|not provided [RCV000829432] | Chr4:6290989 [GRCh38] Chr4:6292716 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.461-169_461-168insAGGGGCATG | insertion | not provided [RCV000829433] | Chr4:6291028..6291029 [GRCh38] Chr4:6292755..6292756 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.632-170A>G | single nucleotide variant | not provided [RCV000829448] | Chr4:6291747 [GRCh38] Chr4:6293474 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.862-185C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509561]|not provided [RCV000829451] | Chr4:6300472 [GRCh38] Chr4:6302199 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-1024A>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509563]|not provided [RCV000830648] | Chr4:6294017 [GRCh38] Chr4:6295744 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-1360G>A | single nucleotide variant | Wolfram syndrome 1 [RCV002509565]|not provided [RCV000830802] | Chr4:6293681 [GRCh38] Chr4:6295408 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1184T>A (p.Val395Asp) | single nucleotide variant | Wolfram syndrome 1 [RCV002509559]|not provided [RCV001858397]|not specified [RCV000825500] | Chr4:6300979 [GRCh38] Chr4:6302706 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1185C>G (p.Val395=) | single nucleotide variant | not specified [RCV000825690] | Chr4:6300980 [GRCh38] Chr4:6302707 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) | single nucleotide variant | Cataract 41 [RCV002501174]|Wolfram syndrome 1 [RCV003127489]|not provided [RCV000841306] | Chr4:6301355 [GRCh38] Chr4:6303082 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.713-1341C>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509569]|not provided [RCV000844559] | Chr4:6293700 [GRCh38] Chr4:6295427 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-1317A>G | single nucleotide variant | not provided [RCV000844560] | Chr4:6293724 [GRCh38] Chr4:6295451 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-1203C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509570]|not provided [RCV000844561] | Chr4:6293838 [GRCh38] Chr4:6295565 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-1185C>A | single nucleotide variant | Wolfram syndrome 1 [RCV002509571]|not provided [RCV000844563] | Chr4:6293856 [GRCh38] Chr4:6295583 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.632-198T>C | single nucleotide variant | not provided [RCV000829435] | Chr4:6291719 [GRCh38] Chr4:6293446 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.316-164A>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509098]|not provided [RCV000831850] | Chr4:6288823 [GRCh38] Chr4:6290550 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.631+164G>C | single nucleotide variant | Wolfram syndrome 1 [RCV002509099]|not provided [RCV000831851] | Chr4:6291531 [GRCh38] Chr4:6293258 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-231G>A | single nucleotide variant | Wolfram syndrome 1 [RCV002509567]|not provided [RCV000839247] | Chr4:6294810 [GRCh38] Chr4:6296537 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.632-5T>C | single nucleotide variant | Wolfram syndrome 1 [RCV002509104]|not provided [RCV000842422] | Chr4:6291912 [GRCh38] Chr4:6293639 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3:c.713-1075C>G | single nucleotide variant | not provided [RCV000830171] | Chr4:6295693 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-1219C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509100]|not provided [RCV000832680] | Chr4:6293822 [GRCh38] Chr4:6295549 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.713-945A>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509566]|not provided [RCV000832681] | Chr4:6294096 [GRCh38] Chr4:6295823 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.*260G>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152597]|WFS1-Related Spectrum Disorders [RCV001152598]|Wolfram syndrome 1 [RCV003127653] | Chr4:6302728 [GRCh38] Chr4:6304455 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152197]|WFS1-Related Spectrum Disorders [RCV001152196]|Wolfram syndrome 1 [RCV003127652] | Chr4:6301930 [GRCh38] Chr4:6303657 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*80C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153772]|WFS1-Related Spectrum Disorders [RCV001152504]|Wolfram syndrome 1 [RCV003128313] | Chr4:6302548 [GRCh38] Chr4:6304275 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1871T>G (p.Val624Gly) | single nucleotide variant | not provided [RCV000998216] | Chr4:6301666 [GRCh38] Chr4:6303393 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.2-16.1(chr4:5537684-6624559)x1 | copy number loss | not provided [RCV000847759] | Chr4:5537684..6624559 [GRCh37] Chr4:4p16.2-16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 | copy number loss | not provided [RCV001005513] | Chr4:68345..6984507 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 | copy number loss | not provided [RCV001005514] | Chr4:68345..10312798 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) | single nucleotide variant | Cataract 41 [RCV002479153]|See cases [RCV002252279]|WFS1-Related Spectrum Disorders [RCV002221595]|Wolfram syndrome 1 [RCV000987412]|not provided [RCV001858665] | Chr4:6301802 [GRCh38] Chr4:6303529 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1514G>A (p.Cys505Tyr) | single nucleotide variant | Diabetes mellitus [RCV001175317] | Chr4:6301309 [GRCh38] Chr4:6303036 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.61C>G (p.Pro21Ala) | single nucleotide variant | Wolfram syndrome 1 [RCV002509123]|not specified [RCV001195276] | Chr4:6277516 [GRCh38] Chr4:6279243 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2480C>T (p.Thr827Ile) | single nucleotide variant | Type 2 diabetes mellitus [RCV001195948]|Wolfram syndrome 1 [RCV003147594] | Chr4:6302275 [GRCh38] Chr4:6304002 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1162C>G (p.Leu388Val) | single nucleotide variant | Wolfram syndrome 1 [RCV002509586]|not provided [RCV000993555] | Chr4:6300957 [GRCh38] Chr4:6302684 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.133G>A (p.Gly45Arg) | single nucleotide variant | Wolfram syndrome 1 [RCV002509115]|not provided [RCV000993557] | Chr4:6277588 [GRCh38] Chr4:6279315 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1829del (p.Leu610fs) | deletion | Wolfram syndrome 1 [RCV000987410] | Chr4:6301623 [GRCh38] Chr4:6303350 [GRCh37] Chr4:4p16.1 |
pathogenic|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) | duplication | Wolfram syndrome 1 [RCV000995912] | Chr4:6302018..6302019 [GRCh38] Chr4:6303745..6303746 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) | deletion | Wolfram syndrome 1 [RCV000995913]|not provided [RCV002550684] | Chr4:6302429..6302434 [GRCh38] Chr4:6304156..6304161 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.-127A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156813]|WFS1-Related Spectrum Disorders [RCV001156812]|Wolfram syndrome 1 [RCV002465836] | Chr4:6269893 [GRCh38] Chr4:6271620 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.*14C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157958]|WFS1-Related Spectrum Disorders [RCV001157959]|Wolfram syndrome 1 [RCV003128315] | Chr4:6302482 [GRCh38] Chr4:6304209 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.2001G>A (p.Gln667=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126401] | Chr4:6301796 [GRCh38] Chr4:6303523 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1947C>G (p.Phe649Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV003128225] | Chr4:6301742 [GRCh38] Chr4:6303469 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1836G>C (p.Trp612Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV003127193] | Chr4:6301631 [GRCh38] Chr4:6303358 [GRCh37] Chr4:4p16.1 |
uncertain risk allele |
NM_006005.3(WFS1):c.591G>A (p.Val197=) | single nucleotide variant | not provided [RCV003104885] | Chr4:6291327 [GRCh38] Chr4:6293054 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV003126290] | Chr4:6301157 [GRCh38] Chr4:6302884 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.*553G>C | single nucleotide variant | Wolfram syndrome 1 [RCV003127185] | Chr4:6303021 [GRCh38] Chr4:6304748 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2061G>T (p.Gln687His) | single nucleotide variant | Wolfram syndrome 1 [RCV003127196] | Chr4:6301856 [GRCh38] Chr4:6303583 [GRCh37] Chr4:4p16.1 |
likely risk allele |
NM_006005.3(WFS1):c.211C>T (p.Arg71Trp) | single nucleotide variant | Inborn genetic diseases [RCV003161108]|not provided [RCV001568256] | Chr4:6277666 [GRCh38] Chr4:6279393 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.712T>C (p.Ser238Pro) | single nucleotide variant | not provided [RCV001550129] | Chr4:6291997 [GRCh38] Chr4:6293724 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-5-134T>C | single nucleotide variant | not provided [RCV001565620] | Chr4:6277317 [GRCh38] Chr4:6279044 [GRCh37] Chr4:4p16.1 |
likely benign |
NC_000004.11:g.(?_4861627)_(6304195_?)del | deletion | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003107680] | Chr4:4861627..6304195 [GRCh37] Chr4:4p16.2-16.1 |
pathogenic |
NM_006005.3(WFS1):c.2449C>A (p.Leu817Met) | single nucleotide variant | Inborn genetic diseases [RCV003292612] | Chr4:6302244 [GRCh38] Chr4:6303971 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) | single nucleotide variant | Cataract 41 [RCV002501894]|not provided [RCV001554902] | Chr4:6302176 [GRCh38] Chr4:6303903 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-303C>T | single nucleotide variant | not provided [RCV001554987] | Chr4:6300354 [GRCh38] Chr4:6302081 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr) | single nucleotide variant | Cataract 41 [RCV002495887]|not provided [RCV001556041] | Chr4:6301059 [GRCh38] Chr4:6302786 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-1G>A | single nucleotide variant | not provided [RCV001723485] | Chr4:6300656 [GRCh38] Chr4:6302383 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg) | single nucleotide variant | not provided [RCV001723490] | Chr4:6301615 [GRCh38] Chr4:6303342 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1629C>T (p.Leu543=) | single nucleotide variant | not provided [RCV001586712] | Chr4:6301424 [GRCh38] Chr4:6303151 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.*7del | deletion | not provided [RCV001556836] | Chr4:6302475 [GRCh38] Chr4:6304202 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.588C>T (p.Ala196=) | single nucleotide variant | not provided [RCV001562212] | Chr4:6291324 [GRCh38] Chr4:6293051 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1187A>G (p.Asn396Ser) | single nucleotide variant | not provided [RCV001699876] | Chr4:6300982 [GRCh38] Chr4:6302709 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) | single nucleotide variant | Cataract 41 [RCV002488381]|Inborn genetic diseases [RCV002573175]|not provided [RCV001562495] | Chr4:6302046 [GRCh38] Chr4:6303773 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.712+78T>C | single nucleotide variant | not provided [RCV001685570] | Chr4:6292075 [GRCh38] Chr4:6293802 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.461-125A>C | single nucleotide variant | not provided [RCV001718036] | Chr4:6291072 [GRCh38] Chr4:6292799 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.229_230delinsCA (p.Thr77His) | indel | not provided [RCV002280048] | Chr4:6277684..6277685 [GRCh38] Chr4:6279411..6279412 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.712+182G>A | single nucleotide variant | not provided [RCV001707983] | Chr4:6292179 [GRCh38] Chr4:6293906 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.861+137_861+138insGGG | insertion | not provided [RCV001614240] | Chr4:6295326..6295327 [GRCh38] Chr4:6297053..6297054 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.861+266C>T | single nucleotide variant | not provided [RCV001557905] | Chr4:6295455 [GRCh38] Chr4:6297182 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1072G>C (p.Val358Leu) | single nucleotide variant | not provided [RCV001558648] | Chr4:6300867 [GRCh38] Chr4:6302594 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-118G>A | single nucleotide variant | not provided [RCV001643822] | Chr4:6300539 [GRCh38] Chr4:6302266 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.-5-205G>C | single nucleotide variant | not provided [RCV001674822] | Chr4:6277246 [GRCh38] Chr4:6278973 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) | single nucleotide variant | Cataract 41 [RCV002477889]|not provided [RCV001701221] | Chr4:6289014 [GRCh38] Chr4:6290741 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1737G>A (p.Leu579=) | single nucleotide variant | not provided [RCV001552424] | Chr4:6301532 [GRCh38] Chr4:6303259 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly) | single nucleotide variant | Wolfram syndrome 1 [RCV001667857] | Chr4:6301992 [GRCh38] Chr4:6303719 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.713-79C>A | single nucleotide variant | not provided [RCV001552867] | Chr4:6294962 [GRCh38] Chr4:6296689 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.772G>A (p.Val258Ile) | single nucleotide variant | Wolfram syndrome 1 [RCV002509110]|not provided [RCV000908039] | Chr4:6295100 [GRCh38] Chr4:6296827 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2298C>T (p.His766=) | single nucleotide variant | Wolfram syndrome 1 [RCV003128195]|not provided [RCV000930388] | Chr4:6302093 [GRCh38] Chr4:6303820 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1824G>A (p.Leu608=) | single nucleotide variant | Wolfram syndrome 1 [RCV003127544]|not provided [RCV000908586] | Chr4:6301619 [GRCh38] Chr4:6303346 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1633G>C (p.Val545Leu) | single nucleotide variant | not provided [RCV001766209] | Chr4:6301428 [GRCh38] Chr4:6303155 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1695C>G (p.Leu565=) | single nucleotide variant | not provided [RCV000959425] | Chr4:6301490 [GRCh38] Chr4:6303217 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155664]|WFS1-Related Spectrum Disorders [RCV001155665]|Wolfram syndrome 1 [RCV002509582]|not provided [RCV000939866] | Chr4:6301058 [GRCh38] Chr4:6302785 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1695C>T (p.Leu565=) | single nucleotide variant | Wolfram syndrome 1 [RCV003127555]|not provided [RCV000951873] | Chr4:6301490 [GRCh38] Chr4:6303217 [GRCh37] Chr4:4p16.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) | single nucleotide variant | Cataract 41 [RCV002505291]|Wolfram syndrome 1 [RCV003148892]|not provided [RCV000895193] | Chr4:6302183 [GRCh38] Chr4:6303910 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.*553G>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001158182]|WFS1-Related Spectrum Disorders [RCV001158183] | Chr4:6303021 [GRCh38] Chr4:6304748 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*300A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153881]|WFS1-Related Spectrum Disorders [RCV001153880]|Wolfram syndrome 1 [RCV003127658] | Chr4:6302768 [GRCh38] Chr4:6304495 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.861+2T>C | single nucleotide variant | Wolfram syndrome 1 [RCV004527413]|not provided [RCV001092545] | Chr4:6295191 [GRCh38] Chr4:6296918 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.504C>T (p.Ser168=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001154625]|WFS1-Related Spectrum Disorders [RCV001154626]|Wolfram syndrome 1 [RCV002509119]|not provided [RCV001502896] | Chr4:6291240 [GRCh38] Chr4:6292967 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157677]|WFS1-Related Spectrum Disorders [RCV001152195]|Wolfram syndrome 1 [RCV003128197]|not provided [RCV002032402] | Chr4:6301924 [GRCh38] Chr4:6303651 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) | single nucleotide variant | Cataract 41 [RCV002497609]|Diabetes mellitus [RCV001175321]|not provided [RCV001875777] | Chr4:6295145 [GRCh38] Chr4:6296872 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.*223C>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001158066]|WFS1-Related Spectrum Disorders [RCV001156398]|Wolfram syndrome 1 [RCV003127667] | Chr4:6302691 [GRCh38] Chr4:6304418 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.445T>C (p.Leu149=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157026]|WFS1-Related Spectrum Disorders [RCV001157027]|Wolfram syndrome 1 [RCV002509120] | Chr4:6289116 [GRCh38] Chr4:6290843 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2051C>G (p.Ala684Gly) | single nucleotide variant | Type 2 diabetes mellitus [RCV001196420]|not provided [RCV001863106] | Chr4:6301846 [GRCh38] Chr4:6303573 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2082G>C (p.Glu694Asp) | single nucleotide variant | Diabetes mellitus [RCV001175323]|Wolfram syndrome 1 [RCV003127672]|not provided [RCV001875778] | Chr4:6301877 [GRCh38] Chr4:6303604 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) | single nucleotide variant | Cataract 41 [RCV002479183]|Wolfram syndrome 1 [RCV002509587]|not provided [RCV000998215] | Chr4:6295055 [GRCh38] Chr4:6296782 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2041A>G (p.Thr681Ala) | single nucleotide variant | Wolfram syndrome 1 [RCV003127577]|not provided [RCV000998217] | Chr4:6301836 [GRCh38] Chr4:6303563 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) | single nucleotide variant | Cataract 41 [RCV002495392]|Wolfram syndrome 1 [RCV003127541]|not provided [RCV000891050] | Chr4:6301550 [GRCh38] Chr4:6303277 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.862-332A>T | single nucleotide variant | not provided [RCV001659513] | Chr4:6300325 [GRCh38] Chr4:6302052 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1540C>T (p.Leu514Phe) | single nucleotide variant | not provided [RCV001577373] | Chr4:6301335 [GRCh38] Chr4:6303062 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-224G>C | single nucleotide variant | not provided [RCV001577427] | Chr4:6300433 [GRCh38] Chr4:6302160 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.68C>T (p.Ala23Val) | single nucleotide variant | not provided [RCV001557176] | Chr4:6277523 [GRCh38] Chr4:6279250 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1620G>T (p.Trp540Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV002468534] | Chr4:6301415 [GRCh38] Chr4:6303142 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.315+29C>T | single nucleotide variant | not provided [RCV001562615] | Chr4:6287204 [GRCh38] Chr4:6288931 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV002466872] | Chr4:6301431 [GRCh38] Chr4:6303158 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.861+204G>A | single nucleotide variant | not provided [RCV001640893] | Chr4:6295393 [GRCh38] Chr4:6297120 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys) | single nucleotide variant | Cataract 41 [RCV002488403]|not provided [RCV001575905] | Chr4:6302397 [GRCh38] Chr4:6304124 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1525G>A (p.Val509Ile) | single nucleotide variant | not provided [RCV001564250] | Chr4:6301320 [GRCh38] Chr4:6303047 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.514C>T (p.Leu172=) | single nucleotide variant | Cataract 41 [RCV002495911]|not provided [RCV001571797] | Chr4:6291250 [GRCh38] Chr4:6292977 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.232+140C>T | single nucleotide variant | not provided [RCV001576271] | Chr4:6277827 [GRCh38] Chr4:6279554 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2148C>T (p.Ala716=) | single nucleotide variant | not provided [RCV001566741] | Chr4:6301943 [GRCh38] Chr4:6303670 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.950C>G (p.Thr317Ser) | single nucleotide variant | WFS1-related disorder [RCV004534106]|not provided [RCV002467302] | Chr4:6300745 [GRCh38] Chr4:6302472 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.315+236A>T | single nucleotide variant | not provided [RCV001561586] | Chr4:6287411 [GRCh38] Chr4:6289138 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.962C>T (p.Thr321Met) | single nucleotide variant | not provided [RCV001567031] | Chr4:6300757 [GRCh38] Chr4:6302484 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2047A>G (p.Met683Val) | single nucleotide variant | not provided [RCV002467240] | Chr4:6301842 [GRCh38] Chr4:6303569 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.289G>T (p.Ala97Ser) | single nucleotide variant | not provided [RCV002469891] | Chr4:6287149 [GRCh38] Chr4:6288876 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-100C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002465961] | Chr4:6269920 [GRCh38] Chr4:6271647 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 | copy number loss | not provided [RCV002473869] | Chr4:68346..12369983 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 | copy number loss | not provided [RCV002473938] | Chr4:1..12785001 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_006005.3(WFS1):c.461-169_461-168insAGGGGCGTGGC | insertion | not provided [RCV001540661] | Chr4:6291019..6291020 [GRCh38] Chr4:6292746..6292747 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.316-225G>A | single nucleotide variant | not provided [RCV001675162] | Chr4:6288762 [GRCh38] Chr4:6290489 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.232+225C>A | single nucleotide variant | not provided [RCV001716952] | Chr4:6277912 [GRCh38] Chr4:6279639 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.709G>A (p.Glu237Lys) | single nucleotide variant | not provided [RCV001700803] | Chr4:6291994 [GRCh38] Chr4:6293721 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.632-94G>A | single nucleotide variant | not provided [RCV001720830] | Chr4:6291823 [GRCh38] Chr4:6293550 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.-6+32_-6+49dup | duplication | not provided [RCV001618749] | Chr4:6270040..6270041 [GRCh38] Chr4:6271767..6271768 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) | single nucleotide variant | Cataract 41 [RCV002477860]|not provided [RCV001592475] | Chr4:6301744 [GRCh38] Chr4:6303471 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2422A>G (p.Ser808Gly) | single nucleotide variant | not provided [RCV001592533] | Chr4:6302217 [GRCh38] Chr4:6303944 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1289C>G (p.Ser430Trp) | single nucleotide variant | not provided [RCV001723317] | Chr4:6301084 [GRCh38] Chr4:6302811 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) | single nucleotide variant | Cataract 41 [RCV002477901]|not provided [RCV001723374] | Chr4:6301903 [GRCh38] Chr4:6303630 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1549del (p.Arg517fs) | deletion | not provided [RCV001572293] | Chr4:6301343 [GRCh38] Chr4:6303070 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2621C>A (p.Ala874Asp) | single nucleotide variant | not provided [RCV001589689] | Chr4:6302416 [GRCh38] Chr4:6304143 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.712+131C>T | single nucleotide variant | not provided [RCV001595983] | Chr4:6292128 [GRCh38] Chr4:6293855 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) | single nucleotide variant | Cataract 41 [RCV002476898]|WFS1-related disorder [RCV004536218]|not provided [RCV001593670] | Chr4:6301287 [GRCh38] Chr4:6303014 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.713-147G>A | single nucleotide variant | not provided [RCV001589940] | Chr4:6294894 [GRCh38] Chr4:6296621 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.861+101G>A | single nucleotide variant | not provided [RCV001719167] | Chr4:6295290 [GRCh38] Chr4:6297017 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1744G>A (p.Val582Met) | single nucleotide variant | Cataract 41 [RCV002495945]|not provided [RCV001586687] | Chr4:6301539 [GRCh38] Chr4:6303266 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-6+85T>C | single nucleotide variant | not provided [RCV001718034] | Chr4:6270099 [GRCh38] Chr4:6271826 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.862-156G>A | single nucleotide variant | not provided [RCV001594267] | Chr4:6300501 [GRCh38] Chr4:6302228 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.951C>T (p.Thr317=) | single nucleotide variant | not provided [RCV001593484] | Chr4:6300746 [GRCh38] Chr4:6302473 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.-6+14C>A | single nucleotide variant | not provided [RCV001621645] | Chr4:6270028 [GRCh38] Chr4:6271755 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.316-120T>C | single nucleotide variant | not provided [RCV001718035] | Chr4:6288867 [GRCh38] Chr4:6290594 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2015T>C (p.Leu672Pro) | single nucleotide variant | Diabetes mellitus [RCV001175326] | Chr4:6301810 [GRCh38] Chr4:6303537 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1509C>T (p.Val503=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155753]|WFS1-Related Spectrum Disorders [RCV001157456]|Wolfram syndrome 1 [RCV003127663] | Chr4:6301304 [GRCh38] Chr4:6303031 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*158G>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156397]|WFS1-Related Spectrum Disorders [RCV001156396]|Wolfram syndrome 1 [RCV003127666] | Chr4:6302626 [GRCh38] Chr4:6304353 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.804C>T (p.Asp268=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157142]|WFS1-Related Spectrum Disorders [RCV001157141]|Wolfram syndrome 1 [RCV002509122]|not provided [RCV001759913] | Chr4:6295132 [GRCh38] Chr4:6296859 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.837T>C (p.Pro279=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157144]|WFS1-Related Spectrum Disorders [RCV001157143] | Chr4:6295165 [GRCh38] Chr4:6296892 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157460]|Inborn genetic diseases [RCV004032829]|WFS1-Related Spectrum Disorders [RCV001157461]|WFS1-related disorder [RCV004528398]|Wolfram syndrome 1 [RCV003127668]|not provided [RCV002070938] | Chr4:6301375 [GRCh38] Chr4:6303102 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.695G>A (p.Arg232His) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157137]|WFS1-Related Spectrum Disorders [RCV001157138]|Wolfram syndrome 1 [RCV002509121]|not provided [RCV002032453] | Chr4:6291980 [GRCh38] Chr4:6293707 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157549]|Cataract 41 [RCV002491456]|WFS1-Related Spectrum Disorders [RCV001157550]|not provided [RCV001570232] | Chr4:6301626 [GRCh38] Chr4:6303353 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*11C>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157956]|WFS1-Related Spectrum Disorders [RCV001157957]|Wolfram syndrome 1 [RCV003128378] | Chr4:6302479 [GRCh38] Chr4:6304206 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*37C>A | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001157960]|WFS1-Related Spectrum Disorders [RCV001157961]|Wolfram syndrome 1 [RCV003128379] | Chr4:6302505 [GRCh38] Chr4:6304232 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*263T>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152599]|WFS1-Related Spectrum Disorders [RCV001152600]|Wolfram syndrome 1 [RCV003127654] | Chr4:6302731 [GRCh38] Chr4:6304458 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.955A>T (p.Ile319Phe) | single nucleotide variant | Wolfram syndrome 1 [RCV002509117]|not provided [RCV001092546] | Chr4:6300750 [GRCh38] Chr4:6302477 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.*448A>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153884]|WFS1-Related Spectrum Disorders [RCV001154727]|Wolfram syndrome 1 [RCV003127660] | Chr4:6302916 [GRCh38] Chr4:6304643 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.*656C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153981]|WFS1-Related Spectrum Disorders [RCV001153982]|Wolfram syndrome 1 [RCV003127661] | Chr4:6303124 [GRCh38] Chr4:6304851 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153360]|WFS1-Related Spectrum Disorders [RCV001153359]|Wolfram syndrome 1 [RCV003127657]|not provided [RCV001560362] | Chr4:6301806 [GRCh38] Chr4:6303533 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.961A>C (p.Thr321Pro) | single nucleotide variant | Diabetes mellitus [RCV001175318]|not provided [RCV001875776] | Chr4:6300756 [GRCh38] Chr4:6302483 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2356G>T (p.Gly786Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153585]|WFS1-Related Spectrum Disorders [RCV001153584] | Chr4:6302151 [GRCh38] Chr4:6303878 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1425C>T (p.Pro475=) | single nucleotide variant | WFS1-related disorder [RCV004545101]|Wolfram syndrome 1 [RCV003127671]|not provided [RCV001171736] | Chr4:6301220 [GRCh38] Chr4:6302947 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1135G>T (p.Asp379Tyr) | single nucleotide variant | Monogenic diabetes [RCV001174419] | Chr4:6300930 [GRCh38] Chr4:6302657 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) | deletion | Cataract 41 [RCV003142122]|Wolfram syndrome 1 [RCV001195288]|not provided [RCV002561030] | Chr4:6301743..6301744 [GRCh38] Chr4:6303470..6303471 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156084]|Cataract 41 [RCV002491451]|WFS1-Related Spectrum Disorders [RCV001156083]|Wolfram syndrome 1 [RCV003127665]|not provided [RCV002558354] | Chr4:6302041 [GRCh38] Chr4:6303768 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156286]|Cataract 41 [RCV002483899]|WFS1-Related Spectrum Disorders [RCV001156287]|Wolfram syndrome 1 [RCV003128314]|not provided [RCV002032442] | Chr4:6302459 [GRCh38] Chr4:6304186 [GRCh37] Chr4:4p16.1 |
benign|likely benign|uncertain significance |
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151791]|Cataract 41 [RCV002483888]|WFS1-Related Spectrum Disorders [RCV001151792]|not provided [RCV001759907] | Chr4:6300942 [GRCh38] Chr4:6302669 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) | single nucleotide variant | Cataract 41 [RCV002496000]|Wolfram syndrome 1 [RCV001667855] | Chr4:6289058 [GRCh38] Chr4:6290785 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV001667856] | Chr4:6301756 [GRCh38] Chr4:6303483 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1656C>G (p.Thr552=) | single nucleotide variant | not provided [RCV001532504] | Chr4:6301451 [GRCh38] Chr4:6303178 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.672G>A (p.Gln224=) | single nucleotide variant | not provided [RCV001588257] | Chr4:6291957 [GRCh38] Chr4:6293684 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer) | deletion | Diabetes mellitus [RCV001172534]|Wolfram syndrome 1 [RCV002274141]|not provided [RCV001873597] | Chr4:6301157..6301172 [GRCh38] Chr4:6302884..6302899 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.712+47C>T | single nucleotide variant | not provided [RCV001585108] | Chr4:6292044 [GRCh38] Chr4:6293771 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1523A>G (p.Tyr508Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV001647213]|not provided [RCV001859246] | Chr4:6301318 [GRCh38] Chr4:6303045 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.713-1206C>T | single nucleotide variant | not provided [RCV001585366] | Chr4:6293835 [GRCh38] Chr4:6295562 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 | copy number loss | not provided [RCV001537927] | Chr4:68598..18912995 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_006005.3(WFS1):c.510C>T (p.Thr170=) | single nucleotide variant | Cataract 41 [RCV002501986]|WFS1-related disorder [RCV004536238]|not provided [RCV001651530] | Chr4:6291246 [GRCh38] Chr4:6292973 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.461-106C>G | single nucleotide variant | not provided [RCV001610201] | Chr4:6291091 [GRCh38] Chr4:6292818 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.461-173_461-172insGCAGGGGCA | insertion | not provided [RCV001546560] | Chr4:6291024..6291025 [GRCh38] Chr4:6292751..6292752 [GRCh37] Chr4:4p16.1 |
likely benign |
NC_000004.12:g.6269836_6269841dup | duplication | not provided [RCV001643808] | Chr4:6269830..6269831 [GRCh38] Chr4:6271557..6271558 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2385_2390delinsCGACGT (p.Glu795_Asp797delinsAspAspVal) | indel | not provided [RCV001586267] | Chr4:6302180..6302185 [GRCh38] Chr4:6303907..6303912 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.712+114A>G | single nucleotide variant | not provided [RCV001615768] | Chr4:6292111 [GRCh38] Chr4:6293838 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.558G>C (p.Lys186Asn) | single nucleotide variant | not provided [RCV001537423] | Chr4:6291294 [GRCh38] Chr4:6293021 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*69C>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152502]|WFS1-Related Spectrum Disorders [RCV001152503]|Wolfram syndrome 1 [RCV003128312] | Chr4:6302537 [GRCh38] Chr4:6304264 [GRCh37] Chr4:4p16.1 |
benign |
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 | copy number gain | See cases [RCV001194594] | Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001156082]|WFS1-Related Spectrum Disorders [RCV001156081]|Wolfram syndrome 1 [RCV003127664]|not provided [RCV002559500] | Chr4:6302020 [GRCh38] Chr4:6303747 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.-93G>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151387]|WFS1-Related Spectrum Disorders [RCV001151388]|Wolfram syndrome 1 [RCV002465833] | Chr4:6269927 [GRCh38] Chr4:6271654 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153040]|Cataract 41 [RCV002480552]|WFS1-Related Spectrum Disorders [RCV001153041]|not provided [RCV001348921] | Chr4:6300975 [GRCh38] Chr4:6302702 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.*358T>C | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153882]|WFS1-Related Spectrum Disorders [RCV001153883]|Wolfram syndrome 1 [RCV003127659] | Chr4:6302826 [GRCh38] Chr4:6304553 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.*455A>G | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001154728]|WFS1-Related Spectrum Disorders [RCV001154729]|Wolfram syndrome 1 [RCV003127662] | Chr4:6302923 [GRCh38] Chr4:6304650 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV003128198]|not provided [RCV001863085]|not specified [RCV001195275] | Chr4:6302094 [GRCh38] Chr4:6303821 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1837T>G (p.Trp613Gly) | single nucleotide variant | WFS1-related disorder [RCV004545118]|Wolfram syndrome 1 [RCV003127679]|not specified [RCV001195274] | Chr4:6301632 [GRCh38] Chr4:6303359 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) | single nucleotide variant | Cataract 41 [RCV002491598]|Type 2 diabetes mellitus [RCV001198917] | Chr4:6302398 [GRCh38] Chr4:6304125 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV001195287] | Chr4:6301415 [GRCh38] Chr4:6303142 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.81C>T (p.Leu27=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155254]|Cataract 41 [RCV002505732]|WFS1-Related Spectrum Disorders [RCV001155253] | Chr4:6277536 [GRCh38] Chr4:6279263 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153248]|Cataract 41 [RCV002491447]|Inborn genetic diseases [RCV003284000]|WFS1-Related Spectrum Disorders [RCV001153249]|Wolfram syndrome 1 [RCV003127655]|not provided [RCV002557298] | Chr4:6301534 [GRCh38] Chr4:6303261 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.968A>G (p.His323Arg) | single nucleotide variant | not provided [RCV001092547] | Chr4:6300763 [GRCh38] Chr4:6302490 [GRCh37] Chr4:4p16.1 |
pathogenic |
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 | copy number loss | not provided [RCV001005511] | Chr4:68345..9768141 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.2030C>T (p.Ala677Val) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155967]|WFS1-Related Spectrum Disorders [RCV001155966] | Chr4:6301825 [GRCh38] Chr4:6303552 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-148G>T | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001155156]|WFS1-Related Spectrum Disorders [RCV001155155]|Wolfram syndrome 1 [RCV002465835] | Chr4:6269872 [GRCh38] Chr4:6271599 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001151500]|WFS1-Related Spectrum Disorders [RCV001151499]|Wolfram syndrome 1 [RCV003127651]|not provided [RCV001882469] | Chr4:6277687 [GRCh38] Chr4:6279414 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001152927]|WFS1-Related Spectrum Disorders [RCV001152928]|Wolfram syndrome 1 [RCV002509618] | Chr4:6300667 [GRCh38] Chr4:6302394 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1986C>T (p.Ser662=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001153355]|WFS1-Related Spectrum Disorders [RCV001153356]|Wolfram syndrome 1 [RCV003127656] | Chr4:6301781 [GRCh38] Chr4:6303508 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV003148959]|Wolfram-like syndrome [RCV001253644] | Chr4:6302200 [GRCh38] Chr4:6303927 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.468G>T (p.Thr156=) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001253964]|WFS1-Related Spectrum Disorders [RCV001253984]|not provided [RCV001538217] | Chr4:6291204 [GRCh38] Chr4:6292931 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) | copy number loss | microdeletion 4p16.3p16.1 [RCV001255691] | Chr4:2909440..6871516 [GRCh37] Chr4:4p16.3-16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1713del (p.Ile572fs) | deletion | Autosomal dominant nonsyndromic deafness 6 [RCV001333472] | Chr4:6301505 [GRCh38] Chr4:6303232 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.972C>G (p.Ile324Met) | single nucleotide variant | not provided [RCV001907654] | Chr4:6300767 [GRCh38] Chr4:6302494 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2293del (p.Cys765fs) | deletion | Cataract 41 [RCV001536100] | Chr4:6302088 [GRCh38] Chr4:6303815 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) | single nucleotide variant | Cataract 41 [RCV002507664]|Wolfram syndrome 1 [RCV003128202]|not provided [RCV001982615] | Chr4:6301725 [GRCh38] Chr4:6303452 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-3C>G | single nucleotide variant | Cataract 41 [RCV002488365]|not provided [RCV001546108] | Chr4:6300654 [GRCh38] Chr4:6302381 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1171G>A (p.Glu391Lys) | single nucleotide variant | not provided [RCV002284950] | Chr4:6300966 [GRCh38] Chr4:6302693 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu) | single nucleotide variant | Wolfram syndrome 1 [RCV001262572] | Chr4:6288991 [GRCh38] Chr4:6290718 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
GRCh37/hg19 4p16.2-16.1(chr4:4896232-6366623)x1 | copy number loss | not provided [RCV001258629] | Chr4:4896232..6366623 [GRCh37] Chr4:4p16.2-16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001329515]|Cataract 41 [RCV002486328]|not provided [RCV001562691] | Chr4:6302166 [GRCh38] Chr4:6303893 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1623T>G (p.Cys541Trp) | single nucleotide variant | Inborn genetic diseases [RCV003284244]|Wolfram syndrome 1 [RCV003127829]|not provided [RCV001350530] | Chr4:6301418 [GRCh38] Chr4:6303145 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1966G>A (p.Gly656Ser) | single nucleotide variant | not provided [RCV001312790] | Chr4:6301761 [GRCh38] Chr4:6303488 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter) | single nucleotide variant | Inborn genetic diseases [RCV004040016]|Wolfram syndrome 1 [RCV001730050] | Chr4:6302458 [GRCh38] Chr4:6304185 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1347C>T (p.Thr449=) | single nucleotide variant | not provided [RCV001415185] | Chr4:6301142 [GRCh38] Chr4:6302869 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.624C>T (p.Asn208=) | single nucleotide variant | not provided [RCV001396740] | Chr4:6291360 [GRCh38] Chr4:6293087 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001352903]|Wolfram syndrome 1 [RCV003147621] | Chr4:6302272 [GRCh38] Chr4:6303999 [GRCh37] Chr4:4p16.1 |
pathogenic|likely risk allele |
NM_006005.3(WFS1):c.996_997delinsAA (p.Val333Ile) | indel | not provided [RCV001414831] | Chr4:6300791..6300792 [GRCh38] Chr4:6302518..6302519 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2495G>A (p.Arg832His) | single nucleotide variant | Cataract 41 [RCV002499716]|not provided [RCV001357086] | Chr4:6302290 [GRCh38] Chr4:6304017 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1401_1403del (p.Leu468del) | deletion | not provided [RCV001383030] | Chr4:6301194..6301196 [GRCh38] Chr4:6302921..6302923 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) | single nucleotide variant | Cataract 41 [RCV002499541]|Inborn genetic diseases [RCV002541826]|Wolfram syndrome 1 [RCV003128199]|not provided [RCV001295108] | Chr4:6301929 [GRCh38] Chr4:6303656 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) | single nucleotide variant | Cataract 41 [RCV002486188]|Wolfram syndrome 1 [RCV003128200]|not provided [RCV001305498] | Chr4:6302043 [GRCh38] Chr4:6303770 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) | single nucleotide variant | Cataract 41 [RCV002499558]|Inborn genetic diseases [RCV004036162]|Wolfram syndrome 1 [RCV003127769]|not provided [RCV001300363] | Chr4:6301188 [GRCh38] Chr4:6302915 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.382G>T (p.Asp128Tyr) | single nucleotide variant | Wolfram syndrome 1 [RCV002509125]|not provided [RCV001345240] | Chr4:6289053 [GRCh38] Chr4:6290780 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1817T>G (p.Val606Gly) | single nucleotide variant | WFS1-related disorder [RCV004531083]|Wolfram syndrome 1 [RCV003127770]|not provided [RCV001300722] | Chr4:6301612 [GRCh38] Chr4:6303339 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) | single nucleotide variant | Cataract 41 [RCV002499595]|not provided [RCV001310826] | Chr4:6300891 [GRCh38] Chr4:6302618 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.830A>G (p.Lys277Arg) | single nucleotide variant | WFS1-related disorder [RCV004531165]|not provided [RCV001363976] | Chr4:6295158 [GRCh38] Chr4:6296885 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2484C>G (p.Ile828Met) | single nucleotide variant | not provided [RCV001297451] | Chr4:6302279 [GRCh38] Chr4:6304006 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.412C>T (p.Arg138Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV002509124]|not provided [RCV001296231] | Chr4:6289083 [GRCh38] Chr4:6290810 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.630C>T (p.His210=) | single nucleotide variant | not specified [RCV001449728] | Chr4:6291366 [GRCh38] Chr4:6293093 [GRCh37] Chr4:4p16.1 |
likely benign |
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 | copy number gain | not provided [RCV001537928] | Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_006005.3(WFS1):c.2028C>T (p.Arg676=) | single nucleotide variant | WFS1-related disorder [RCV004533759]|not provided [RCV001574894]|not specified [RCV001449729] | Chr4:6301823 [GRCh38] Chr4:6303550 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2498T>A (p.Leu833Gln) | single nucleotide variant | Hearing impairment [RCV001375085] | Chr4:6302293 [GRCh38] Chr4:6304020 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2140A>G (p.Asn714Asp) | single nucleotide variant | not provided [RCV001365841] | Chr4:6301935 [GRCh38] Chr4:6303662 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.920C>T (p.Ala307Val) | single nucleotide variant | not provided [RCV001365933] | Chr4:6300715 [GRCh38] Chr4:6302442 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1885C>T (p.Arg629Trp) | single nucleotide variant | not provided [RCV001384572] | Chr4:6301680 [GRCh38] Chr4:6303407 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) | single nucleotide variant | Cataract 41 [RCV002501816]|not provided [RCV001519101] | Chr4:6300943 [GRCh38] Chr4:6302670 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.691G>A (p.Glu231Lys) | single nucleotide variant | not provided [RCV001393184] | Chr4:6291976 [GRCh38] Chr4:6293703 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.612C>T (p.Val204=) | single nucleotide variant | not provided [RCV001444828] | Chr4:6291348 [GRCh38] Chr4:6293075 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2610C>G (p.Thr870=) | single nucleotide variant | not provided [RCV001408318] | Chr4:6302405 [GRCh38] Chr4:6304132 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) | single nucleotide variant | Cataract 41 [RCV001535831] | Chr4:6277531 [GRCh38] Chr4:6279258 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1878C>T (p.Ser626=) | single nucleotide variant | not provided [RCV001426008] | Chr4:6301673 [GRCh38] Chr4:6303400 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.460+145C>G | single nucleotide variant | not provided [RCV001614941] | Chr4:6289276 [GRCh38] Chr4:6291003 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2487G>A (p.Leu829=) | single nucleotide variant | not provided [RCV001715381] | Chr4:6302282 [GRCh38] Chr4:6304009 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.-5-255G>C | single nucleotide variant | not provided [RCV001698575] | Chr4:6277196 [GRCh38] Chr4:6278923 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.-6+229G>C | single nucleotide variant | not provided [RCV001618840] | Chr4:6270243 [GRCh38] Chr4:6271970 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) | single nucleotide variant | Inborn genetic diseases [RCV003346586]|not provided [RCV001504964] | Chr4:6302227 [GRCh38] Chr4:6303954 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2416G>C (p.Ala806Pro) | single nucleotide variant | not provided [RCV001386851] | Chr4:6302211 [GRCh38] Chr4:6303938 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.882C>T (p.His294=) | single nucleotide variant | Cataract 41 [RCV002495708]|not provided [RCV001476016] | Chr4:6300677 [GRCh38] Chr4:6302404 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.567C>A (p.Pro189=) | single nucleotide variant | not provided [RCV001500897] | Chr4:6291303 [GRCh38] Chr4:6293030 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.9dup (p.Asn4fs) | duplication | not provided [RCV001389688] | Chr4:6277462..6277463 [GRCh38] Chr4:6279189..6279190 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) | single nucleotide variant | Cataract 41 [RCV001535945]|not provided [RCV003708603] | Chr4:6301751 [GRCh38] Chr4:6303478 [GRCh37] Chr4:4p16.1 |
pathogenic |
Single allele | deletion | not provided [RCV002227826] | Chr4:3101924..7588850 [GRCh38] Chr4:4p16.3-16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.940T>C (p.Trp314Arg) | single nucleotide variant | not provided [RCV001727284] | Chr4:6300735 [GRCh38] Chr4:6302462 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) | microsatellite | Cataract 41 [RCV002503178]|not provided [RCV001727285] | Chr4:6301336..6301338 [GRCh38] Chr4:6303063..6303065 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2059C>T (p.Gln687Ter) | single nucleotide variant | not provided [RCV001727286] | Chr4:6301854 [GRCh38] Chr4:6303581 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1682T>G (p.Ile561Ser) | single nucleotide variant | not provided [RCV003108876] | Chr4:6301477 [GRCh38] Chr4:6303204 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.418G>A (p.Glu140Lys) | single nucleotide variant | not provided [RCV001730436] | Chr4:6289089 [GRCh38] Chr4:6290816 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.233-18G>T | single nucleotide variant | not provided [RCV003108358] | Chr4:6287075 [GRCh38] Chr4:6288802 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2030C>G (p.Ala677Gly) | single nucleotide variant | Wolfram syndrome 1 [RCV003127192] | Chr4:6301825 [GRCh38] Chr4:6303552 [GRCh37] Chr4:4p16.1 |
uncertain risk allele |
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV001730049]|not provided [RCV002538697] | Chr4:6301902 [GRCh38] Chr4:6303629 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1109C>T (p.Ala370Val) | single nucleotide variant | Developmental cataract [RCV001775024] | Chr4:6300904 [GRCh38] Chr4:6302631 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.876C>G (p.Pro292=) | single nucleotide variant | Cataract 41 [RCV002496051]|not provided [RCV001727283] | Chr4:6300671 [GRCh38] Chr4:6302398 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1145T>C (p.Leu382Pro) | single nucleotide variant | Wolfram-like syndrome [RCV003138144]|not provided [RCV002273402] | Chr4:6300940 [GRCh38] Chr4:6302667 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.663G>C (p.Lys221Asn) | single nucleotide variant | not provided [RCV001768020] | Chr4:6291948 [GRCh38] Chr4:6293675 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2330T>G (p.Ile777Ser) | single nucleotide variant | not provided [RCV001758928] | Chr4:6302125 [GRCh38] Chr4:6303852 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.908T>C (p.Leu303Pro) | single nucleotide variant | not provided [RCV001768179] | Chr4:6300703 [GRCh38] Chr4:6302430 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2513C>T (p.Pro838Leu) | single nucleotide variant | not provided [RCV001768196] | Chr4:6302308 [GRCh38] Chr4:6304035 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2575C>T (p.Arg859Trp) | single nucleotide variant | not provided [RCV001768230] | Chr4:6302370 [GRCh38] Chr4:6304097 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1424C>T (p.Pro475Leu) | single nucleotide variant | not provided [RCV001768370] | Chr4:6301219 [GRCh38] Chr4:6302946 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) | single nucleotide variant | Cataract 41 [RCV002482285]|WFS1-related disorder [RCV004528532]|not provided [RCV001768391] | Chr4:6301161 [GRCh38] Chr4:6302888 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2615A>C (p.His872Pro) | single nucleotide variant | not provided [RCV002272117] | Chr4:6302410 [GRCh38] Chr4:6304137 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2224T>C (p.Cys742Arg) | single nucleotide variant | not provided [RCV001768424] | Chr4:6302019 [GRCh38] Chr4:6303746 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1583A>G (p.Tyr528Cys) | single nucleotide variant | not provided [RCV001767986] | Chr4:6301378 [GRCh38] Chr4:6303105 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2113A>G (p.Lys705Glu) | single nucleotide variant | Cataract 41 [RCV002249202] | Chr4:6301908 [GRCh38] Chr4:6303635 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1553T>A (p.Met518Lys) | single nucleotide variant | not provided [RCV001776466] | Chr4:6301348 [GRCh38] Chr4:6303075 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2166G>A (p.Met722Ile) | single nucleotide variant | not provided [RCV001776475] | Chr4:6301961 [GRCh38] Chr4:6303688 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.907C>A (p.Leu303Met) | single nucleotide variant | not provided [RCV001776675] | Chr4:6300702 [GRCh38] Chr4:6302429 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1910T>C (p.Leu637Pro) | single nucleotide variant | not provided [RCV001753390] | Chr4:6301705 [GRCh38] Chr4:6303432 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.718A>T (p.Asn240Tyr) | single nucleotide variant | not provided [RCV001755635] | Chr4:6295046 [GRCh38] Chr4:6296773 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) | single nucleotide variant | Cataract 41 [RCV002489812]|not provided [RCV001757511] | Chr4:6277532 [GRCh38] Chr4:6279259 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1014C>G (p.Ile338Met) | single nucleotide variant | Wolfram syndrome 1 [RCV002509696]|not provided [RCV001755380] | Chr4:6300809 [GRCh38] Chr4:6302536 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) | single nucleotide variant | Cataract 41 [RCV002506803]|not provided [RCV001774918] | Chr4:6300774 [GRCh38] Chr4:6302501 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) | single nucleotide variant | Cataract 41 [RCV002489824]|not provided [RCV001776381] | Chr4:6301579 [GRCh38] Chr4:6303306 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2619C>T (p.Gly873=) | single nucleotide variant | not provided [RCV001776428] | Chr4:6302414 [GRCh38] Chr4:6304141 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.61C>A (p.Pro21Thr) | single nucleotide variant | not provided [RCV001757322] | Chr4:6277516 [GRCh38] Chr4:6279243 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.693G>A (p.Glu231=) | single nucleotide variant | not provided [RCV001775000] | Chr4:6291978 [GRCh38] Chr4:6293705 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2432_2433delinsGA (p.Lys811Arg) | indel | not provided [RCV001768421] | Chr4:6302227..6302228 [GRCh38] Chr4:6303954..6303955 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2035A>C (p.Lys679Gln) | single nucleotide variant | Inborn genetic diseases [RCV004047551]|not provided [RCV002280552] | Chr4:6301830 [GRCh38] Chr4:6303557 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) | single nucleotide variant | Cataract 41 [RCV002503241]|Inborn genetic diseases [RCV003346690]|not provided [RCV001774828] | Chr4:6291359 [GRCh38] Chr4:6293086 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter) | single nucleotide variant | not provided [RCV001785144] | Chr4:6301797 [GRCh38] Chr4:6303524 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr) | single nucleotide variant | Wolfram syndrome 1 [RCV001789842] | Chr4:6300883 [GRCh38] Chr4:6302610 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.527T>C (p.Val176Ala) | single nucleotide variant | Cataract 41 [RCV002489835]|not provided [RCV001787592] | Chr4:6291263 [GRCh38] Chr4:6292990 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1235T>A (p.Val412Asp) | single nucleotide variant | Inborn genetic diseases [RCV002540658]|not provided [RCV001759069] | Chr4:6301030 [GRCh38] Chr4:6302757 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.763G>A (p.Ala255Thr) | single nucleotide variant | not provided [RCV001759212] | Chr4:6295091 [GRCh38] Chr4:6296818 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1726G>T (p.Gly576Cys) | single nucleotide variant | not provided [RCV001776837] | Chr4:6301521 [GRCh38] Chr4:6303248 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2333C>T (p.Thr778Ile) | single nucleotide variant | not provided [RCV001777064] | Chr4:6302128 [GRCh38] Chr4:6303855 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2580C>A (p.His860Gln) | single nucleotide variant | Cataract 41 [RCV002478023]|not provided [RCV001794723] | Chr4:6302375 [GRCh38] Chr4:6304102 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2542C>G (p.Leu848Val) | single nucleotide variant | not provided [RCV001767953] | Chr4:6302337 [GRCh38] Chr4:6304064 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1897G>C (p.Val633Leu) | single nucleotide variant | not provided [RCV001753225] | Chr4:6301692 [GRCh38] Chr4:6303419 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) | single nucleotide variant | Cataract 41 [RCV002503235]|not provided [RCV001755328] | Chr4:6300895 [GRCh38] Chr4:6302622 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala) | single nucleotide variant | Cataract 41 [RCV002477994]|not provided [RCV001757328] | Chr4:6302085 [GRCh38] Chr4:6303812 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1965G>T (p.Glu655Asp) | single nucleotide variant | not provided [RCV001757476] | Chr4:6301760 [GRCh38] Chr4:6303487 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1495C>A (p.Leu499Ile) | single nucleotide variant | not provided [RCV001769810] | Chr4:6301290 [GRCh38] Chr4:6303017 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) | single nucleotide variant | Inborn genetic diseases [RCV002541286]|Wolfram-like syndrome [RCV002291002]|not provided [RCV001795517] | Chr4:6301554 [GRCh38] Chr4:6303281 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg) | single nucleotide variant | not provided [RCV001795701] | Chr4:6301306 [GRCh38] Chr4:6303033 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.47C>T (p.Pro16Leu) | single nucleotide variant | not provided [RCV001795764] | Chr4:6277502 [GRCh38] Chr4:6279229 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser) | single nucleotide variant | Cataract 41 [RCV002489817]|not provided [RCV001759353] | Chr4:6277681 [GRCh38] Chr4:6279408 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+2T>G | single nucleotide variant | not provided [RCV001795717] | Chr4:6291369 [GRCh38] Chr4:6293096 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2624T>C (p.Val875Ala) | single nucleotide variant | not provided [RCV001776680] | Chr4:6302419 [GRCh38] Chr4:6304146 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val) | single nucleotide variant | not provided [RCV001776739] | Chr4:6301569 [GRCh38] Chr4:6303296 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.175G>T (p.Ala59Ser) | single nucleotide variant | Inborn genetic diseases [RCV002541070]|not provided [RCV001776703] | Chr4:6277630 [GRCh38] Chr4:6279357 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2275C>G (p.Leu759Val) | single nucleotide variant | not provided [RCV001776969] | Chr4:6302070 [GRCh38] Chr4:6303797 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.530G>A (p.Arg177His) | single nucleotide variant | not provided [RCV001776903] | Chr4:6291266 [GRCh38] Chr4:6292993 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) | single nucleotide variant | Cataract 41 [RCV002503250]|Wolfram-like syndrome [RCV004564024]|not provided [RCV001752911] | Chr4:6300871 [GRCh38] Chr4:6302598 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2331dup (p.Thr778fs) | duplication | not provided [RCV001797226] | Chr4:6302124..6302125 [GRCh38] Chr4:6303851..6303852 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.358G>A (p.Glu120Lys) | single nucleotide variant | not provided [RCV001797256] | Chr4:6289029 [GRCh38] Chr4:6290756 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) | single nucleotide variant | Wolfram syndrome 1 [RCV003321872]|not provided [RCV001797328] | Chr4:6302001 [GRCh38] Chr4:6303728 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2528A>T (p.Lys843Met) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001825039]|not provided [RCV001797460] | Chr4:6302323 [GRCh38] Chr4:6304050 [GRCh37] Chr4:4p16.1 |
uncertain significance|not provided |
NM_006005.3(WFS1):c.2296C>T (p.His766Tyr) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV001825040]|Wolfram syndrome 1 [RCV003128201]|not provided [RCV001797517] | Chr4:6302091 [GRCh38] Chr4:6303818 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance|not provided |
NM_006005.3(WFS1):c.1649A>T (p.Glu550Val) | single nucleotide variant | not provided [RCV001755421] | Chr4:6301444 [GRCh38] Chr4:6303171 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2325T>G (p.Phe775Leu) | single nucleotide variant | not provided [RCV001757432] | Chr4:6302120 [GRCh38] Chr4:6303847 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2290C>T (p.Pro764Ser) | single nucleotide variant | not provided [RCV001757478] | Chr4:6302085 [GRCh38] Chr4:6303812 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val) | single nucleotide variant | Inborn genetic diseases [RCV002541056]|not provided [RCV001776371] | Chr4:6301476 [GRCh38] Chr4:6303203 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.920C>A (p.Ala307Asp) | single nucleotide variant | not provided [RCV001776758] | Chr4:6300715 [GRCh38] Chr4:6302442 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1243_1251dup (p.Val415_Phe417dup) | duplication | not provided [RCV001777060] | Chr4:6301032..6301033 [GRCh38] Chr4:6302759..6302760 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.888C>A (p.Ile296=) | single nucleotide variant | not provided [RCV001777118] | Chr4:6300683 [GRCh38] Chr4:6302410 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2620G>C (p.Ala874Pro) | single nucleotide variant | not provided [RCV001776958] | Chr4:6302415 [GRCh38] Chr4:6304142 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2601G>C (p.Trp867Cys) | single nucleotide variant | not specified [RCV001733633] | Chr4:6302396 [GRCh38] Chr4:6304123 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2521G>C (p.Glu841Gln) | single nucleotide variant | not provided [RCV001755304] | Chr4:6302316 [GRCh38] Chr4:6304043 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.437G>A (p.Arg146His) | single nucleotide variant | WFS1-related disorder [RCV004528533]|not provided [RCV001755690] | Chr4:6289108 [GRCh38] Chr4:6290835 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.463A>G (p.Ile155Val) | single nucleotide variant | not provided [RCV001757326] | Chr4:6291199 [GRCh38] Chr4:6292926 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2163C>G (p.Asn721Lys) | single nucleotide variant | not provided [RCV001755258] | Chr4:6301958 [GRCh38] Chr4:6303685 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2581G>A (p.Val861Met) | single nucleotide variant | not provided [RCV001755260] | Chr4:6302376 [GRCh38] Chr4:6304103 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1329C>G (p.Ser443Arg) | single nucleotide variant | not provided [RCV001755337] | Chr4:6301124 [GRCh38] Chr4:6302851 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.456A>T (p.Arg152Ser) | single nucleotide variant | not provided [RCV001757386] | Chr4:6289127 [GRCh38] Chr4:6290854 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) | single nucleotide variant | Cataract 41 [RCV002503237]|not provided [RCV001757412] | Chr4:6301239 [GRCh38] Chr4:6302966 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV001805739] | Chr4:6300975 [GRCh38] Chr4:6302702 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1165G>C (p.Asp389His) | single nucleotide variant | Wolfram-like syndrome [RCV001809161] | Chr4:6300960 [GRCh38] Chr4:6302687 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) | single nucleotide variant | Cataract 41 [RCV002482335]|Inborn genetic diseases [RCV003247030]|not provided [RCV001806920] | Chr4:6301273 [GRCh38] Chr4:6303000 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1002C>G (p.Ser334Arg) | single nucleotide variant | not provided [RCV001806581] | Chr4:6300797 [GRCh38] Chr4:6302524 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn) | single nucleotide variant | not provided [RCV001811876] | Chr4:6291247 [GRCh38] Chr4:6292974 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2004G>C (p.Gln668His) | single nucleotide variant | not provided [RCV001889087] | Chr4:6301799 [GRCh38] Chr4:6303526 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1764G>T (p.Trp588Cys) | single nucleotide variant | not provided [RCV001909744] | Chr4:6301559 [GRCh38] Chr4:6303286 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1731G>A (p.Leu577=) | single nucleotide variant | WFS1-related disorder [RCV004536392]|not provided [RCV001874491] | Chr4:6301526 [GRCh38] Chr4:6303253 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) | single nucleotide variant | not provided [RCV002008311] | Chr4:6301084 [GRCh38] Chr4:6302811 [GRCh37] Chr4:4p16.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_006005.3(WFS1):c.2089A>G (p.Arg697Gly) | single nucleotide variant | not provided [RCV001929566] | Chr4:6301884 [GRCh38] Chr4:6303611 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1016A>G (p.Asp339Gly) | single nucleotide variant | not provided [RCV001971551] | Chr4:6300811 [GRCh38] Chr4:6302538 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1135G>C (p.Asp379His) | single nucleotide variant | not provided [RCV002008525] | Chr4:6300930 [GRCh38] Chr4:6302657 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1017C>G (p.Asp339Glu) | single nucleotide variant | not provided [RCV001950222] | Chr4:6300812 [GRCh38] Chr4:6302539 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2162A>G (p.Asn721Ser) | single nucleotide variant | not provided [RCV001950605] | Chr4:6301957 [GRCh38] Chr4:6303684 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1538A>G (p.Tyr513Cys) | single nucleotide variant | not provided [RCV001864314] | Chr4:6301333 [GRCh38] Chr4:6303060 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) | single nucleotide variant | Cataract 41 [RCV002507701]|not provided [RCV001970045] | Chr4:6301353 [GRCh38] Chr4:6303080 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1495_1497del (p.Leu499del) | deletion | not provided [RCV002024756] | Chr4:6301288..6301290 [GRCh38] Chr4:6303015..6303017 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.928G>C (p.Ala310Pro) | single nucleotide variant | not provided [RCV001863978] | Chr4:6300723 [GRCh38] Chr4:6302450 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1955A>G (p.Tyr652Cys) | single nucleotide variant | not provided [RCV001864497] | Chr4:6301750 [GRCh38] Chr4:6303477 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1675G>T (p.Ala559Ser) | single nucleotide variant | not provided [RCV001950262] | Chr4:6301470 [GRCh38] Chr4:6303197 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV002275258]|not provided [RCV001964530] | Chr4:6301970 [GRCh38] Chr4:6303697 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1232C>T (p.Ser411Phe) | single nucleotide variant | not provided [RCV001948887] | Chr4:6301027 [GRCh38] Chr4:6302754 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2251G>C (p.Glu751Gln) | single nucleotide variant | Inborn genetic diseases [RCV003170432]|not provided [RCV001983745] | Chr4:6302046 [GRCh38] Chr4:6303773 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.284C>A (p.Ala95Asp) | single nucleotide variant | not provided [RCV001970933] | Chr4:6287144 [GRCh38] Chr4:6288871 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.641C>G (p.Ala214Gly) | single nucleotide variant | not provided [RCV001964882] | Chr4:6291926 [GRCh38] Chr4:6293653 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.2-16.1(chr4:5864059-7458744)x1 | copy number loss | not provided [RCV001829101] | Chr4:5864059..7458744 [GRCh37] Chr4:4p16.2-16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu) | single nucleotide variant | Cataract 41 [RCV002482615]|not provided [RCV001914530] | Chr4:6301006 [GRCh38] Chr4:6302733 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.861+4A>G | single nucleotide variant | not provided [RCV001970250] | Chr4:6295193 [GRCh38] Chr4:6296920 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1605G>A (p.Leu535=) | single nucleotide variant | not provided [RCV001892186] | Chr4:6301400 [GRCh38] Chr4:6303127 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1895T>C (p.Met632Thr) | single nucleotide variant | not provided [RCV001967590] | Chr4:6301690 [GRCh38] Chr4:6303417 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr) | single nucleotide variant | Cataract 41 [RCV002503428]|not provided [RCV001947214] | Chr4:6302391 [GRCh38] Chr4:6304118 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser) | single nucleotide variant | not provided [RCV002003819] | Chr4:6300877 [GRCh38] Chr4:6302604 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) | single nucleotide variant | Cataract 41 [RCV002479629]|Inborn genetic diseases [RCV002573371]|not provided [RCV002005192] | Chr4:6302109 [GRCh38] Chr4:6303836 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1918C>G (p.Leu640Val) | single nucleotide variant | not provided [RCV001984827] | Chr4:6301713 [GRCh38] Chr4:6303440 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2099G>A (p.Trp700Ter) | single nucleotide variant | not provided [RCV001946870] | Chr4:6301894 [GRCh38] Chr4:6303621 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1489G>C (p.Val497Leu) | single nucleotide variant | not provided [RCV001824480] | Chr4:6301284 [GRCh38] Chr4:6303011 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.964CAC[1] (p.His323del) | microsatellite | not provided [RCV002042335] | Chr4:6300759..6300761 [GRCh38] Chr4:6302486..6302488 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1050C>G (p.Phe350Leu) | single nucleotide variant | Inborn genetic diseases [RCV004039689]|not provided [RCV001872212] | Chr4:6300845 [GRCh38] Chr4:6302572 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1858G>A (p.Val620Met) | single nucleotide variant | not provided [RCV001965753] | Chr4:6301653 [GRCh38] Chr4:6303380 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser) | single nucleotide variant | Inborn genetic diseases [RCV002557824]|not provided [RCV001910518] | Chr4:6302160 [GRCh38] Chr4:6303887 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile) | single nucleotide variant | Cataract 41 [RCV002503375]|not provided [RCV002040082] | Chr4:6301114 [GRCh38] Chr4:6302841 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.686T>C (p.Met229Thr) | single nucleotide variant | Cataract 41 [RCV002484702]|not provided [RCV001965346] | Chr4:6291971 [GRCh38] Chr4:6293698 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1495C>G (p.Leu499Val) | single nucleotide variant | not provided [RCV001892220] | Chr4:6301290 [GRCh38] Chr4:6303017 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2026_2027insA (p.Arg676fs) | insertion | not provided [RCV001908994] | Chr4:6301821..6301822 [GRCh38] Chr4:6303548..6303549 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.683_684delinsAG (p.Arg228Gln) | indel | not provided [RCV002042600] | Chr4:6291968..6291969 [GRCh38] Chr4:6293695..6293696 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1205T>C (p.Leu402Pro) | single nucleotide variant | not provided [RCV002024019] | Chr4:6301000 [GRCh38] Chr4:6302727 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2027G>C (p.Arg676Pro) | single nucleotide variant | not provided [RCV002024673] | Chr4:6301822 [GRCh38] Chr4:6303549 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2640CTT[3] (p.Phe884dup) | microsatellite | not provided [RCV002042150] | Chr4:6302434..6302435 [GRCh38] Chr4:6304161..6304162 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr) | single nucleotide variant | Cataract 41 [RCV002486621]|not provided [RCV002040252] | Chr4:6301173 [GRCh38] Chr4:6302900 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1220A>G (p.His407Arg) | single nucleotide variant | Cataract 41 [RCV002486755]|not provided [RCV002024697] | Chr4:6301015 [GRCh38] Chr4:6302742 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2524C>T (p.Leu842Phe) | single nucleotide variant | not provided [RCV002021438] | Chr4:6302319 [GRCh38] Chr4:6304046 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.625G>A (p.Glu209Lys) | single nucleotide variant | not provided [RCV001914077] | Chr4:6291361 [GRCh38] Chr4:6293088 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1453G>A (p.Gly485Ser) | single nucleotide variant | not provided [RCV002044377] | Chr4:6301248 [GRCh38] Chr4:6302975 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV002052070]|not provided [RCV002552343] | Chr4:6301228 [GRCh38] Chr4:6302955 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1008_1018del (p.Thr337fs) | deletion | Wolfram syndrome 1 [RCV001822905] | Chr4:6300801..6300811 [GRCh38] Chr4:6302528..6302538 [GRCh37] Chr4:4p16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 | copy number loss | not provided [RCV001829146] | Chr4:68345..20587167 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_006005.3(WFS1):c.1437C>G (p.Pro479=) | single nucleotide variant | not provided [RCV002006889] | Chr4:6301232 [GRCh38] Chr4:6302959 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2564_2565inv (p.Ser855Leu) | inversion | not provided [RCV001893060] | Chr4:6302359..6302360 [GRCh38] Chr4:6304086..6304087 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) | single nucleotide variant | Cataract 41 [RCV002482746]|Inborn genetic diseases [RCV002554216]|not provided [RCV001927568] | Chr4:6287164 [GRCh38] Chr4:6288891 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2598C>G (p.Asp866Glu) | single nucleotide variant | not provided [RCV002041130] | Chr4:6302393 [GRCh38] Chr4:6304120 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1242C>A (p.Phe414Leu) | single nucleotide variant | not provided [RCV001909013] | Chr4:6301037 [GRCh38] Chr4:6302764 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+4C>T | single nucleotide variant | WFS1-related disorder [RCV004542187]|Wolfram syndrome 1 [RCV003228031]|not provided [RCV001987146] | Chr4:6291371 [GRCh38] Chr4:6293098 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1501G>A (p.Val501Ile) | single nucleotide variant | not provided [RCV001837132] | Chr4:6301296 [GRCh38] Chr4:6303023 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1000A>C (p.Ser334Arg) | single nucleotide variant | not provided [RCV001890486] | Chr4:6300795 [GRCh38] Chr4:6302522 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1442T>C (p.Leu481Pro) | single nucleotide variant | not provided [RCV001927232] | Chr4:6301237 [GRCh38] Chr4:6302964 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2137G>C (p.Asp713His) | single nucleotide variant | not provided [RCV001912803] | Chr4:6301932 [GRCh38] Chr4:6303659 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2267G>A (p.Arg756His) | single nucleotide variant | not provided [RCV002005725] | Chr4:6302062 [GRCh38] Chr4:6303789 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.104A>G (p.Gln35Arg) | single nucleotide variant | not provided [RCV001872312] | Chr4:6277559 [GRCh38] Chr4:6279286 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2498T>G (p.Leu833Arg) | single nucleotide variant | not provided [RCV002043528] | Chr4:6302293 [GRCh38] Chr4:6304020 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) | single nucleotide variant | Cataract 41 [RCV002492193]|not provided [RCV001969453] | Chr4:6301104 [GRCh38] Chr4:6302831 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) | single nucleotide variant | Cataract 41 [RCV002484411]|not provided [RCV001927943] | Chr4:6302110 [GRCh38] Chr4:6303837 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.673A>G (p.Lys225Glu) | single nucleotide variant | not provided [RCV002040035] | Chr4:6291958 [GRCh38] Chr4:6293685 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2379C>T (p.Arg793=) | single nucleotide variant | WFS1-related disorder [RCV004538713]|not provided [RCV002005758] | Chr4:6302174 [GRCh38] Chr4:6303901 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) | single nucleotide variant | Cataract 41 [RCV002478290]|not provided [RCV001891460] | Chr4:6277568 [GRCh38] Chr4:6279295 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1550G>A (p.Arg517His) | single nucleotide variant | Cataract 41 [RCV002478328]|not provided [RCV001909120] | Chr4:6301345 [GRCh38] Chr4:6303072 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile) | single nucleotide variant | Cataract 41 [RCV002506972]|not provided [RCV001911084] | Chr4:6301038 [GRCh38] Chr4:6302765 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.271G>A (p.Val91Ile) | single nucleotide variant | not provided [RCV001931007] | Chr4:6287131 [GRCh38] Chr4:6288858 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1460C>G (p.Thr487Ser) | single nucleotide variant | not provided [RCV001938300] | Chr4:6301255 [GRCh38] Chr4:6302982 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2377C>T (p.Arg793Cys) | single nucleotide variant | not provided [RCV002036686] | Chr4:6302172 [GRCh38] Chr4:6303899 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1799C>G (p.Thr600Ser) | single nucleotide variant | Wolfram syndrome 1 [RCV003125948]|not provided [RCV001888604] | Chr4:6301594 [GRCh38] Chr4:6303321 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.632A>G (p.Asp211Gly) | single nucleotide variant | not provided [RCV002019642] | Chr4:6291917 [GRCh38] Chr4:6293644 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.962C>G (p.Thr321Arg) | single nucleotide variant | not provided [RCV002000456] | Chr4:6300757 [GRCh38] Chr4:6302484 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1214A>G (p.Tyr405Cys) | single nucleotide variant | not provided [RCV001919563] | Chr4:6301009 [GRCh38] Chr4:6302736 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1391C>G (p.Thr464Ser) | single nucleotide variant | not provided [RCV001952267] | Chr4:6301186 [GRCh38] Chr4:6302913 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.593C>T (p.Ala198Val) | single nucleotide variant | Cataract 41 [RCV002506875]|not provided [RCV002033208] | Chr4:6291329 [GRCh38] Chr4:6293056 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1789A>C (p.Ile597Leu) | single nucleotide variant | not provided [RCV002018321] | Chr4:6301584 [GRCh38] Chr4:6303311 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1583A>C (p.Tyr528Ser) | single nucleotide variant | not provided [RCV001961502] | Chr4:6301378 [GRCh38] Chr4:6303105 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1692C>G (p.Phe564Leu) | single nucleotide variant | not provided [RCV001942873] | Chr4:6301487 [GRCh38] Chr4:6303214 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1896G>A (p.Met632Ile) | single nucleotide variant | not provided [RCV002026196] | Chr4:6301691 [GRCh38] Chr4:6303418 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2144G>T (p.Ser715Ile) | single nucleotide variant | not provided [RCV001962061] | Chr4:6301939 [GRCh38] Chr4:6303666 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1457A>T (p.Gln486Leu) | single nucleotide variant | not provided [RCV001875326] | Chr4:6301252 [GRCh38] Chr4:6302979 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1816G>T (p.Val606Leu) | single nucleotide variant | not provided [RCV001933117] | Chr4:6301611 [GRCh38] Chr4:6303338 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2005T>C (p.Tyr669His) | single nucleotide variant | not provided [RCV001956527] | Chr4:6301800 [GRCh38] Chr4:6303527 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.807A>T (p.Glu269Asp) | single nucleotide variant | not provided [RCV001936103] | Chr4:6295135 [GRCh38] Chr4:6296862 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.127G>A (p.Ala43Thr) | single nucleotide variant | not provided [RCV001962225] | Chr4:6277582 [GRCh38] Chr4:6279309 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) | deletion | Autosomal dominant nonsyndromic hearing loss 6 [RCV003336476]|Cataract 41 [RCV002507696]|Wolfram syndrome 1 [RCV002274237]|not provided [RCV001941578] | Chr4:6301310..6301324 [GRCh38] Chr4:6303037..6303051 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.212G>A (p.Arg71Gln) | single nucleotide variant | not provided [RCV001887077] | Chr4:6277667 [GRCh38] Chr4:6279394 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.468G>A (p.Thr156=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509126]|not provided [RCV001942155] | Chr4:6291204 [GRCh38] Chr4:6292931 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.2115G>C (p.Lys705Asn) | single nucleotide variant | not provided [RCV001975012] | Chr4:6301910 [GRCh38] Chr4:6303637 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2640CTT[1] (p.Phe884del) | microsatellite | not provided [RCV001920207] | Chr4:6302435..6302437 [GRCh38] Chr4:6304162..6304164 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1343G>A (p.Ser448Asn) | single nucleotide variant | not provided [RCV001993683] | Chr4:6301138 [GRCh38] Chr4:6302865 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1429A>C (p.Asn477His) | single nucleotide variant | not provided [RCV001979096] | Chr4:6301224 [GRCh38] Chr4:6302951 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser) | single nucleotide variant | not provided [RCV001900340] | Chr4:6301899 [GRCh38] Chr4:6303626 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.572A>G (p.Lys191Arg) | single nucleotide variant | not provided [RCV001979195] | Chr4:6291308 [GRCh38] Chr4:6293035 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala) | single nucleotide variant | Cataract 41 [RCV002506877]|not provided [RCV002046712] | Chr4:6301444 [GRCh38] Chr4:6303171 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2192T>A (p.Met731Lys) | single nucleotide variant | not provided [RCV001899119] | Chr4:6301987 [GRCh38] Chr4:6303714 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) | single nucleotide variant | Cataract 41 [RCV002482616]|not provided [RCV001881006] | Chr4:6301440 [GRCh38] Chr4:6303167 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) | single nucleotide variant | Cataract 41 [RCV002506999]|Inborn genetic diseases [RCV003167067]|WFS1-related disorder [RCV004538599]|not provided [RCV001935060] | Chr4:6301678 [GRCh38] Chr4:6303405 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1778A>C (p.Glu593Ala) | single nucleotide variant | not provided [RCV001900515] | Chr4:6301573 [GRCh38] Chr4:6303300 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1621T>C (p.Cys541Arg) | single nucleotide variant | not provided [RCV002051469] | Chr4:6301416 [GRCh38] Chr4:6303143 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr) | single nucleotide variant | Cataract 41 [RCV002478376]|not provided [RCV001920757] | Chr4:6302007 [GRCh38] Chr4:6303734 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) | single nucleotide variant | Cataract 41 [RCV002484528]|Inborn genetic diseases [RCV003247159]|not provided [RCV001951950] | Chr4:6277609 [GRCh38] Chr4:6279336 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn) | single nucleotide variant | Cataract 41 [RCV002492350]|not provided [RCV002016364] | Chr4:6302401 [GRCh38] Chr4:6304128 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1869G>A (p.Met623Ile) | single nucleotide variant | not provided [RCV001877790] | Chr4:6301664 [GRCh38] Chr4:6303391 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) | single nucleotide variant | Cataract 41 [RCV002478203]|not provided [RCV001879323] | Chr4:6291923 [GRCh38] Chr4:6293650 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser) | single nucleotide variant | Cataract 41 [RCV002506963]|not provided [RCV001875309] | Chr4:6277474 [GRCh38] Chr4:6279201 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1446G>C (p.Lys482Asn) | single nucleotide variant | not provided [RCV001869914] | Chr4:6301241 [GRCh38] Chr4:6302968 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1791C>G (p.Ile597Met) | single nucleotide variant | not provided [RCV002028868] | Chr4:6301586 [GRCh38] Chr4:6303313 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1025C>T (p.Ala342Val) | single nucleotide variant | not provided [RCV001878188] | Chr4:6300820 [GRCh38] Chr4:6302547 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) | single nucleotide variant | Cataract 41 [RCV002497881]|not provided [RCV001951122] | Chr4:6301414 [GRCh38] Chr4:6303141 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.735T>G (p.Asp245Glu) | single nucleotide variant | not provided [RCV001900999] | Chr4:6295063 [GRCh38] Chr4:6296790 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) | single nucleotide variant | Cataract 41 [RCV002479407]|not provided [RCV001933234] | Chr4:6301920 [GRCh38] Chr4:6303647 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2548T>G (p.Cys850Gly) | single nucleotide variant | not provided [RCV001878138] | Chr4:6302343 [GRCh38] Chr4:6304070 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1780C>T (p.Leu594Phe) | single nucleotide variant | not provided [RCV001877082] | Chr4:6301575 [GRCh38] Chr4:6303302 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) | single nucleotide variant | Cataract 41 [RCV002503473]|WFS1-related disorder [RCV004529034]|not provided [RCV001922151] | Chr4:6291349 [GRCh38] Chr4:6293076 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.923C>G (p.Ser308Cys) | single nucleotide variant | Congenital bilateral perisylvian syndrome [RCV003446983]|not provided [RCV001991879] | Chr4:6300718 [GRCh38] Chr4:6302445 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1282C>G (p.Pro428Ala) | single nucleotide variant | not provided [RCV001936810] | Chr4:6301077 [GRCh38] Chr4:6302804 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) | single nucleotide variant | Cataract 41 [RCV002491877]|Inborn genetic diseases [RCV002556405]|not provided [RCV001930759] | Chr4:6301479 [GRCh38] Chr4:6303206 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_4861627)_(6304195_?)dup | duplication | not provided [RCV001918830] | Chr4:4861627..6304195 [GRCh37] Chr4:4p16.2-16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1013_1014delinsAT (p.Ile338Asn) | indel | not provided [RCV001901661] | Chr4:6300808..6300809 [GRCh38] Chr4:6302535..6302536 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1900A>C (p.Lys634Gln) | single nucleotide variant | not provided [RCV001922339] | Chr4:6301695 [GRCh38] Chr4:6303422 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) | single nucleotide variant | Cataract 41 [RCV002490271]|not provided [RCV001919107] | Chr4:6301275 [GRCh38] Chr4:6303002 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2615A>G (p.His872Arg) | single nucleotide variant | Inborn genetic diseases [RCV002555212]|not provided [RCV001882272] | Chr4:6302410 [GRCh38] Chr4:6304137 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2225G>C (p.Cys742Ser) | single nucleotide variant | not provided [RCV001870581] | Chr4:6302020 [GRCh38] Chr4:6303747 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.836C>G (p.Pro279Arg) | single nucleotide variant | not provided [RCV001955737] | Chr4:6295164 [GRCh38] Chr4:6296891 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.997_998inv (p.Val333Thr) | inversion | not provided [RCV001904627] | Chr4:6300792..6300793 [GRCh38] Chr4:6302519..6302520 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.934A>G (p.Met312Val) | single nucleotide variant | not provided [RCV001939096] | Chr4:6300729 [GRCh38] Chr4:6302456 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2315G>T (p.Arg772Leu) | single nucleotide variant | not provided [RCV001877636] | Chr4:6302110 [GRCh38] Chr4:6303837 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg) | single nucleotide variant | Cataract 41 [RCV002479614]|not provided [RCV001961582] | Chr4:6302347 [GRCh38] Chr4:6304074 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_6271704)_(6293744_?)dup | duplication | not provided [RCV001992563] | Chr4:6271704..6293744 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2512C>G (p.Pro838Ala) | single nucleotide variant | not provided [RCV001883361] | Chr4:6302307 [GRCh38] Chr4:6304034 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.481C>T (p.Arg161Trp) | single nucleotide variant | not provided [RCV001919492] | Chr4:6291217 [GRCh38] Chr4:6292944 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2091G>C (p.Arg697Ser) | single nucleotide variant | not provided [RCV001935385] | Chr4:6301886 [GRCh38] Chr4:6303613 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.415C>T (p.Arg139Cys) | single nucleotide variant | not provided [RCV001957872] | Chr4:6289086 [GRCh38] Chr4:6290813 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly) | single nucleotide variant | Cataract 41 [RCV002482733]|not provided [RCV001884628] | Chr4:6295152 [GRCh38] Chr4:6296879 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2501G>A (p.Gly834Asp) | single nucleotide variant | not provided [RCV001880780] | Chr4:6302296 [GRCh38] Chr4:6304023 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2050G>A (p.Ala684Thr) | single nucleotide variant | not provided [RCV001958686] | Chr4:6301845 [GRCh38] Chr4:6303572 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) | single nucleotide variant | Cataract 41 [RCV002484465]|Inborn genetic diseases [RCV002557652]|not provided [RCV001922888] | Chr4:6291941 [GRCh38] Chr4:6293668 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) | single nucleotide variant | Cataract 41 [RCV002484824]|not provided [RCV001961167] | Chr4:6302077 [GRCh38] Chr4:6303804 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2237A>G (p.Asn746Ser) | single nucleotide variant | not provided [RCV001898546] | Chr4:6302032 [GRCh38] Chr4:6303759 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile) | single nucleotide variant | Cataract 41 [RCV002492110]|not provided [RCV001993013] | Chr4:6302187 [GRCh38] Chr4:6303914 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.192G>A (p.Gln64=) | single nucleotide variant | not provided [RCV001915861] | Chr4:6277647 [GRCh38] Chr4:6279374 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.228C>T (p.Gly76=) | single nucleotide variant | not provided [RCV001955064] | Chr4:6277683 [GRCh38] Chr4:6279410 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) | single nucleotide variant | Cataract 41 [RCV002498000]|not provided [RCV002019721] | Chr4:6301824 [GRCh38] Chr4:6303551 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.440G>A (p.Arg147Gln) | single nucleotide variant | not provided [RCV001875442] | Chr4:6289111 [GRCh38] Chr4:6290838 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2141_2164dup (p.Asn714_Asn721dup) | duplication | not provided [RCV002012460] | Chr4:6301932..6301933 [GRCh38] Chr4:6303659..6303660 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.203C>T (p.Thr68Ile) | single nucleotide variant | not provided [RCV001982115] | Chr4:6277658 [GRCh38] Chr4:6279385 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) | single nucleotide variant | Cataract 41 [RCV002479826]|not provided [RCV002049028] | Chr4:6301614 [GRCh38] Chr4:6303341 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1958G>A (p.Arg653His) | single nucleotide variant | Cataract 41 [RCV002479732]|not provided [RCV002015956] | Chr4:6301753 [GRCh38] Chr4:6303480 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2456A>C (p.Gln819Pro) | single nucleotide variant | not provided [RCV001886195] | Chr4:6302251 [GRCh38] Chr4:6303978 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) | single nucleotide variant | not provided [RCV001899046]|not specified [RCV002246586] | Chr4:6291208 [GRCh38] Chr4:6292935 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.158G>T (p.Gly53Val) | single nucleotide variant | not provided [RCV001902663] | Chr4:6277613 [GRCh38] Chr4:6279340 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2250C>A (p.Ala750=) | single nucleotide variant | not provided [RCV002051299] | Chr4:6302045 [GRCh38] Chr4:6303772 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2311G>C (p.Asp771His) | single nucleotide variant | not provided [RCV001958688] | Chr4:6302106 [GRCh38] Chr4:6303833 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1488G>A (p.Leu496=) | single nucleotide variant | not provided [RCV001958477] | Chr4:6301283 [GRCh38] Chr4:6303010 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.2597A>G (p.Asp866Gly) | single nucleotide variant | not provided [RCV001923709] | Chr4:6302392 [GRCh38] Chr4:6304119 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1676C>T (p.Ala559Val) | single nucleotide variant | Wolfram syndrome 1 [RCV003126105]|not provided [RCV002034090] | Chr4:6301471 [GRCh38] Chr4:6303198 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu) | single nucleotide variant | Cataract 41 [RCV002482571]|not provided [RCV001877134] | Chr4:6301038 [GRCh38] Chr4:6302765 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.67G>T (p.Ala23Ser) | single nucleotide variant | not provided [RCV001883458] | Chr4:6277522 [GRCh38] Chr4:6279249 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) | deletion | Cataract 41 [RCV002492133]|not provided [RCV001972770] | Chr4:6301026..6301029 [GRCh38] Chr4:6302753..6302756 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1768A>T (p.Thr590Ser) | single nucleotide variant | not provided [RCV002017946] | Chr4:6301563 [GRCh38] Chr4:6303290 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) | deletion | Cataract 41 [RCV002497889]|not provided [RCV001958685] | Chr4:6301399..6301412 [GRCh38] Chr4:6303126..6303139 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) | single nucleotide variant | Cataract 41 [RCV002482653]|not provided [RCV001924602] | Chr4:6301159 [GRCh38] Chr4:6302886 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) | single nucleotide variant | Cataract 41 [RCV002482794]|Inborn genetic diseases [RCV002554376]|not provided [RCV001906440] | Chr4:6301266 [GRCh38] Chr4:6302993 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2213C>A (p.Ala738Asp) | single nucleotide variant | not provided [RCV002019239] | Chr4:6302008 [GRCh38] Chr4:6303735 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2136C>A (p.Ile712=) | single nucleotide variant | not provided [RCV001907406] | Chr4:6301931 [GRCh38] Chr4:6303658 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) | single nucleotide variant | Cataract 41 [RCV002486595]|Inborn genetic diseases [RCV002625388]|not provided [RCV001991673] | Chr4:6291926 [GRCh38] Chr4:6293653 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.932G>A (p.Gly311Asp) | single nucleotide variant | not provided [RCV001998393] | Chr4:6300727 [GRCh38] Chr4:6302454 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2611G>C (p.Val871Leu) | single nucleotide variant | not provided [RCV001989950] | Chr4:6302406 [GRCh38] Chr4:6304133 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) | single nucleotide variant | Cataract 41 [RCV002478128]|not provided [RCV001878181] | Chr4:6289066 [GRCh38] Chr4:6290793 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1111T>G (p.Trp371Gly) | single nucleotide variant | not provided [RCV002030822] | Chr4:6300906 [GRCh38] Chr4:6302633 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2586G>T (p.Lys862Asn) | single nucleotide variant | not provided [RCV002048810] | Chr4:6302381 [GRCh38] Chr4:6304108 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2063T>C (p.Ile688Thr) | single nucleotide variant | not provided [RCV001978868] | Chr4:6301858 [GRCh38] Chr4:6303585 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.712+1G>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509127]|not provided [RCV001990256] | Chr4:6291998 [GRCh38] Chr4:6293725 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV003323960]|not provided [RCV001994853] | Chr4:6302000 [GRCh38] Chr4:6303727 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.164G>A (p.Arg55Lys) | single nucleotide variant | not provided [RCV001877417] | Chr4:6277619 [GRCh38] Chr4:6279346 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2318A>G (p.Tyr773Cys) | single nucleotide variant | not provided [RCV001957960] | Chr4:6302113 [GRCh38] Chr4:6303840 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) | single nucleotide variant | Cataract 41 [RCV002503521]|not provided [RCV001902943] | Chr4:6301344 [GRCh38] Chr4:6303071 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.92C>A (p.Ala31Asp) | single nucleotide variant | not provided [RCV002030255] | Chr4:6277547 [GRCh38] Chr4:6279274 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2404A>G (p.Ile802Val) | single nucleotide variant | not provided [RCV001880566] | Chr4:6302199 [GRCh38] Chr4:6303926 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2024C>T (p.Pro675Leu) | single nucleotide variant | not provided [RCV001900521] | Chr4:6301819 [GRCh38] Chr4:6303546 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.933C>T (p.Gly311=) | single nucleotide variant | not provided [RCV002109753] | Chr4:6300728 [GRCh38] Chr4:6302455 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1833C>T (p.Arg611=) | single nucleotide variant | WFS1-related disorder [RCV004531509]|not provided [RCV002149055] | Chr4:6301628 [GRCh38] Chr4:6303355 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) | single nucleotide variant | Cataract 41 [RCV002507962]|not provided [RCV002112258] | Chr4:6300974 [GRCh38] Chr4:6302701 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2658C>T (p.Phe886=) | single nucleotide variant | not provided [RCV002107398] | Chr4:6302453 [GRCh38] Chr4:6304180 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.818A>C (p.Glu273Ala) | single nucleotide variant | Inborn genetic diseases [RCV003033334]|not provided [RCV002075957] | Chr4:6295146 [GRCh38] Chr4:6296873 [GRCh37] Chr4:4p16.1 |
likely benign|uncertain significance |
NM_006005.3(WFS1):c.862-16A>G | single nucleotide variant | not provided [RCV002107643] | Chr4:6300641 [GRCh38] Chr4:6302368 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1188C>T (p.Asn396=) | single nucleotide variant | not provided [RCV002109393] | Chr4:6300983 [GRCh38] Chr4:6302710 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2499G>A (p.Leu833=) | single nucleotide variant | not provided [RCV002191248] | Chr4:6302294 [GRCh38] Chr4:6304021 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2343G>A (p.Met781Ile) | single nucleotide variant | not provided [RCV002224636] | Chr4:6302138 [GRCh38] Chr4:6303865 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.204C>A (p.Thr68=) | single nucleotide variant | not provided [RCV002147728] | Chr4:6277659 [GRCh38] Chr4:6279386 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) | single nucleotide variant | Cataract 41 [RCV002507909]|not provided [RCV002206694] | Chr4:6301547 [GRCh38] Chr4:6303274 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1401G>A (p.Leu467=) | single nucleotide variant | not provided [RCV002148091] | Chr4:6301196 [GRCh38] Chr4:6302923 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.861+18C>T | single nucleotide variant | not provided [RCV002092156] | Chr4:6295207 [GRCh38] Chr4:6296934 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1800C>A (p.Thr600=) | single nucleotide variant | not provided [RCV002110332] | Chr4:6301595 [GRCh38] Chr4:6303322 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1272G>A (p.Lys424=) | single nucleotide variant | not provided [RCV002112224] | Chr4:6301067 [GRCh38] Chr4:6302794 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1557A>G (p.Ala519=) | single nucleotide variant | not provided [RCV002187121] | Chr4:6301352 [GRCh38] Chr4:6303079 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1740G>T (p.Val580=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126155]|not provided [RCV002105630] | Chr4:6301535 [GRCh38] Chr4:6303262 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1494C>T (p.Val498=) | single nucleotide variant | Cataract 41 [RCV002500005]|not provided [RCV002127216] | Chr4:6301289 [GRCh38] Chr4:6303016 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1969A>T (p.Met657Leu) | single nucleotide variant | not provided [RCV002206207] | Chr4:6301764 [GRCh38] Chr4:6303491 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.315+7_315+23del | deletion | not provided [RCV002186566] | Chr4:6287179..6287195 [GRCh38] Chr4:6288906..6288922 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2526C>T (p.Leu842=) | single nucleotide variant | not provided [RCV002106357] | Chr4:6302321 [GRCh38] Chr4:6304048 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) | single nucleotide variant | Cataract 41 [RCV002500292]|not provided [RCV002145960] | Chr4:6302315 [GRCh38] Chr4:6304042 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.862-10T>G | single nucleotide variant | not provided [RCV002125365] | Chr4:6300647 [GRCh38] Chr4:6302374 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2262C>T (p.Leu754=) | single nucleotide variant | not provided [RCV002190111] | Chr4:6302057 [GRCh38] Chr4:6303784 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.632-8C>T | single nucleotide variant | not provided [RCV002111471] | Chr4:6291909 [GRCh38] Chr4:6293636 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1026C>T (p.Ala342=) | single nucleotide variant | Cataract 41 [RCV002507918]|not provided [RCV002210081] | Chr4:6300821 [GRCh38] Chr4:6302548 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1545C>T (p.Phe515=) | single nucleotide variant | not provided [RCV002092207] | Chr4:6301340 [GRCh38] Chr4:6303067 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.315+18G>C | single nucleotide variant | not provided [RCV002130306] | Chr4:6287193 [GRCh38] Chr4:6288920 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1134C>T (p.Thr378=) | single nucleotide variant | not provided [RCV002125800] | Chr4:6300929 [GRCh38] Chr4:6302656 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.862-19C>T | single nucleotide variant | Cataract 41 [RCV002486843]|not provided [RCV002205927] | Chr4:6300638 [GRCh38] Chr4:6302365 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1533G>A (p.Leu511=) | single nucleotide variant | not provided [RCV002109234] | Chr4:6301328 [GRCh38] Chr4:6303055 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.33C>A (p.Ser11=) | single nucleotide variant | Cataract 41 [RCV002494474]|not provided [RCV002149082] | Chr4:6277488 [GRCh38] Chr4:6279215 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1411C>T (p.Leu471=) | single nucleotide variant | not provided [RCV002170716] | Chr4:6301206 [GRCh38] Chr4:6302933 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.713-12C>G | single nucleotide variant | not provided [RCV002072729] | Chr4:6295029 [GRCh38] Chr4:6296756 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1734C>T (p.Ala578=) | single nucleotide variant | WFS1-related disorder [RCV004531382]|not provided [RCV002112889] | Chr4:6301529 [GRCh38] Chr4:6303256 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.978G>A (p.Ala326=) | single nucleotide variant | not provided [RCV002125019] | Chr4:6300773 [GRCh38] Chr4:6302500 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.735T>C (p.Asp245=) | single nucleotide variant | not provided [RCV002129510] | Chr4:6295063 [GRCh38] Chr4:6296790 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1406C>T (p.Ser469Leu) | single nucleotide variant | not provided [RCV002116770] | Chr4:6301201 [GRCh38] Chr4:6302928 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.525C>T (p.Ala175=) | single nucleotide variant | not provided [RCV002171026] | Chr4:6291261 [GRCh38] Chr4:6292988 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2370G>T (p.Ser790=) | single nucleotide variant | not provided [RCV002151602] | Chr4:6302165 [GRCh38] Chr4:6303892 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2640C>T (p.Asp880=) | single nucleotide variant | not provided [RCV002078799] | Chr4:6302435 [GRCh38] Chr4:6304162 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1410G>A (p.Leu470=) | single nucleotide variant | not provided [RCV002131701] | Chr4:6301205 [GRCh38] Chr4:6302932 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) | single nucleotide variant | Cataract 41 [RCV002494144]|WFS1-related disorder [RCV004531333]|not provided [RCV002216050] | Chr4:6300803 [GRCh38] Chr4:6302530 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1047C>T (p.Ile349=) | single nucleotide variant | not provided [RCV002095475] | Chr4:6300842 [GRCh38] Chr4:6302569 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) | single nucleotide variant | Cataract 41 [RCV002494216]|not provided [RCV002107272] | Chr4:6302144 [GRCh38] Chr4:6303871 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1908C>T (p.Ile636=) | single nucleotide variant | not provided [RCV002095735] | Chr4:6301703 [GRCh38] Chr4:6303430 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.461-7C>T | single nucleotide variant | not provided [RCV002152298] | Chr4:6291190 [GRCh38] Chr4:6292917 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1056G>C (p.Leu352=) | single nucleotide variant | not provided [RCV002078739] | Chr4:6300851 [GRCh38] Chr4:6302578 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.926G>A (p.Arg309Lys) | single nucleotide variant | not provided [RCV002107755] | Chr4:6300721 [GRCh38] Chr4:6302448 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2136C>T (p.Ile712=) | single nucleotide variant | not provided [RCV002126164] | Chr4:6301931 [GRCh38] Chr4:6303658 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.795G>C (p.Leu265=) | single nucleotide variant | not provided [RCV002195840] | Chr4:6295123 [GRCh38] Chr4:6296850 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1785C>T (p.Thr595=) | single nucleotide variant | not provided [RCV002108092] | Chr4:6301580 [GRCh38] Chr4:6303307 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1467C>T (p.Ile489=) | single nucleotide variant | not provided [RCV002111687] | Chr4:6301262 [GRCh38] Chr4:6302989 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1012A>G (p.Ile338Val) | single nucleotide variant | Inborn genetic diseases [RCV004045652]|not provided [RCV002213509] | Chr4:6300807 [GRCh38] Chr4:6302534 [GRCh37] Chr4:4p16.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp) | single nucleotide variant | not provided [RCV002214314] | Chr4:6302208 [GRCh38] Chr4:6303935 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.2172G>A (p.Pro724=) | single nucleotide variant | not provided [RCV002151404] | Chr4:6301967 [GRCh38] Chr4:6303694 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.713-19G>A | single nucleotide variant | Cataract 41 [RCV002500392]|not provided [RCV002193499] | Chr4:6295022 [GRCh38] Chr4:6296749 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) | single nucleotide variant | Cataract 41 [RCV002500281]|not provided [RCV002153419] | Chr4:6301160 [GRCh38] Chr4:6302887 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) | single nucleotide variant | Cataract 41 [RCV002494154]|not provided [RCV002078654] | Chr4:6301271 [GRCh38] Chr4:6302998 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2637C>T (p.Phe879=) | single nucleotide variant | not provided [RCV002105137] | Chr4:6302432 [GRCh38] Chr4:6304159 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.862-4C>G | single nucleotide variant | not provided [RCV002199367] | Chr4:6300653 [GRCh38] Chr4:6302380 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1179C>G (p.Ala393=) | single nucleotide variant | not provided [RCV002140772] | Chr4:6300974 [GRCh38] Chr4:6302701 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.654C>G (p.Pro218=) | single nucleotide variant | not provided [RCV002177255] | Chr4:6291939 [GRCh38] Chr4:6293666 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1460C>T (p.Thr487Ile) | single nucleotide variant | not provided [RCV002155981] | Chr4:6301255 [GRCh38] Chr4:6302982 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1662G>A (p.Leu554=) | single nucleotide variant | not provided [RCV002154080] | Chr4:6301457 [GRCh38] Chr4:6303184 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1017C>T (p.Asp339=) | single nucleotide variant | not provided [RCV002216634] | Chr4:6300812 [GRCh38] Chr4:6302539 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.729G>A (p.Ala243=) | single nucleotide variant | not provided [RCV002157993] | Chr4:6295057 [GRCh38] Chr4:6296784 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1605G>C (p.Leu535=) | single nucleotide variant | not provided [RCV002220869] | Chr4:6301400 [GRCh38] Chr4:6303127 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2217C>T (p.Tyr739=) | single nucleotide variant | not provided [RCV002082093] | Chr4:6302012 [GRCh38] Chr4:6303739 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1692C>T (p.Phe564=) | single nucleotide variant | not provided [RCV002158376] | Chr4:6301487 [GRCh38] Chr4:6303214 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) | single nucleotide variant | Cataract 41 [RCV002500009]|not provided [RCV002120291] | Chr4:6301913 [GRCh38] Chr4:6303640 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.862-18G>A | single nucleotide variant | Cataract 41 [RCV002479885]|not provided [RCV002217466] | Chr4:6300639 [GRCh38] Chr4:6302366 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.456A>G (p.Arg152=) | single nucleotide variant | not provided [RCV002202500] | Chr4:6289127 [GRCh38] Chr4:6290854 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.712+19C>T | single nucleotide variant | Cataract 41 [RCV002498199]|not provided [RCV002202907] | Chr4:6292016 [GRCh38] Chr4:6293743 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.903G>A (p.Glu301=) | single nucleotide variant | not provided [RCV002142646] | Chr4:6300698 [GRCh38] Chr4:6302425 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2352C>T (p.Ser784=) | single nucleotide variant | not provided [RCV002141041] | Chr4:6302147 [GRCh38] Chr4:6303874 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1221T>C (p.His407=) | single nucleotide variant | not provided [RCV002081600] | Chr4:6301016 [GRCh38] Chr4:6302743 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2160C>T (p.Ile720=) | single nucleotide variant | not provided [RCV002143076] | Chr4:6301955 [GRCh38] Chr4:6303682 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2145C>T (p.Ser715=) | single nucleotide variant | not provided [RCV002139666] | Chr4:6301940 [GRCh38] Chr4:6303667 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1239C>T (p.Phe413=) | single nucleotide variant | not provided [RCV002102400] | Chr4:6301034 [GRCh38] Chr4:6302761 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1392C>G (p.Thr464=) | single nucleotide variant | not provided [RCV002102452] | Chr4:6301187 [GRCh38] Chr4:6302914 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1452T>G (p.Leu484=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126186]|not provided [RCV002143640] | Chr4:6301247 [GRCh38] Chr4:6302974 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1644G>A (p.Leu548=) | single nucleotide variant | not provided [RCV002118583] | Chr4:6301439 [GRCh38] Chr4:6303166 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.861+19G>A | single nucleotide variant | not provided [RCV002082808] | Chr4:6295208 [GRCh38] Chr4:6296935 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2499G>T (p.Leu833=) | single nucleotide variant | not provided [RCV002176934] | Chr4:6302294 [GRCh38] Chr4:6304021 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1398C>A (p.Gly466=) | single nucleotide variant | not provided [RCV002202967] | Chr4:6301193 [GRCh38] Chr4:6302920 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.987C>T (p.Phe329=) | single nucleotide variant | not provided [RCV002121487] | Chr4:6300782 [GRCh38] Chr4:6302509 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) | single nucleotide variant | Cataract 41 [RCV002480953]|not provided [RCV002117977] | Chr4:6302186 [GRCh38] Chr4:6303913 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.915C>T (p.Asp305=) | single nucleotide variant | not provided [RCV002201971] | Chr4:6300710 [GRCh38] Chr4:6302437 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.712+18C>G | single nucleotide variant | not provided [RCV002198371] | Chr4:6292015 [GRCh38] Chr4:6293742 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.276G>A (p.Leu92=) | single nucleotide variant | not provided [RCV002179741] | Chr4:6287136 [GRCh38] Chr4:6288863 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.861+15C>A | single nucleotide variant | not provided [RCV002200506] | Chr4:6295204 [GRCh38] Chr4:6296931 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2595C>T (p.His865=) | single nucleotide variant | Wolfram syndrome 1 [RCV003147737]|not provided [RCV002178146] | Chr4:6302390 [GRCh38] Chr4:6304117 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) | single nucleotide variant | Cataract 41 [RCV002496131]|not provided [RCV002203823] | Chr4:6301172 [GRCh38] Chr4:6302899 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2612T>G (p.Val871Gly) | single nucleotide variant | not provided [RCV002219519] | Chr4:6302407 [GRCh38] Chr4:6304134 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2655A>G (p.Pro885=) | single nucleotide variant | not provided [RCV002161997] | Chr4:6302450 [GRCh38] Chr4:6304177 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2232T>G (p.Pro744=) | single nucleotide variant | not provided [RCV002118979] | Chr4:6302027 [GRCh38] Chr4:6303754 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.315+18G>A | single nucleotide variant | Cataract 41 [RCV002494321]|not provided [RCV002155531] | Chr4:6287193 [GRCh38] Chr4:6288920 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.315+17C>T | single nucleotide variant | Cataract 41 [RCV002505822]|not provided [RCV002138970] | Chr4:6287192 [GRCh38] Chr4:6288919 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1158C>G (p.Pro386=) | single nucleotide variant | not provided [RCV002083309] | Chr4:6300953 [GRCh38] Chr4:6302680 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1506C>T (p.Ser502=) | single nucleotide variant | WFS1-related disorder [RCV004543892]|not provided [RCV002140732] | Chr4:6301301 [GRCh38] Chr4:6303028 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.444C>T (p.Cys148=) | single nucleotide variant | Cataract 41 [RCV002494512]|not provided [RCV002180938] | Chr4:6289115 [GRCh38] Chr4:6290842 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2031C>G (p.Ala677=) | single nucleotide variant | not provided [RCV002200422] | Chr4:6301826 [GRCh38] Chr4:6303553 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1814G>A (p.Ser605Asn) | single nucleotide variant | not provided [RCV003110581] | Chr4:6301609 [GRCh38] Chr4:6303336 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-11C>A | single nucleotide variant | not provided [RCV003115189] | Chr4:6300646 [GRCh38] Chr4:6302373 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2057C>A (p.Thr686Asn) | single nucleotide variant | not provided [RCV003113055] | Chr4:6301852 [GRCh38] Chr4:6303579 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2529G>A (p.Lys843=) | single nucleotide variant | not provided [RCV003115211] | Chr4:6302324 [GRCh38] Chr4:6304051 [GRCh37] Chr4:4p16.1 |
likely benign |
NC_000004.11:g.(?_6279183)_(6279434_?)del | deletion | not provided [RCV003116473] | Chr4:6279183..6279434 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter) | single nucleotide variant | not provided [RCV003112160] | Chr4:6291928 [GRCh38] Chr4:6293655 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1661_1687del (p.Leu554_Tyr563delinsHis) | deletion | not provided [RCV003112161] | Chr4:6301456..6301482 [GRCh38] Chr4:6303183..6303209 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.875C>T (p.Pro292Leu) | single nucleotide variant | not provided [RCV003121578] | Chr4:6300670 [GRCh38] Chr4:6302397 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1653C>T (p.Ser551=) | single nucleotide variant | Wolfram syndrome 1 [RCV003126403]|not provided [RCV003883957] | Chr4:6301448 [GRCh38] Chr4:6303175 [GRCh37] Chr4:4p16.1 |
benign|likely benign |
NM_006005.3(WFS1):c.*683delinsTGTGGGGGA | indel | Wolfram syndrome 1 [RCV003127184] | Chr4:6303151 [GRCh38] Chr4:6304878 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2455C>G (p.Gln819Glu) | single nucleotide variant | Wolfram syndrome 1 [RCV003148578] | Chr4:6302250 [GRCh38] Chr4:6303977 [GRCh37] Chr4:4p16.1 |
likely risk allele |
NM_006005.3(WFS1):c.2337G>A (p.Val779=) | single nucleotide variant | Wolfram syndrome 1 [RCV003148580] | Chr4:6302132 [GRCh38] Chr4:6303859 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1246A>G (p.Ile416Val) | single nucleotide variant | not provided [RCV003152046] | Chr4:6301041 [GRCh38] Chr4:6302768 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2668G>C (p.Ala890Pro) | single nucleotide variant | not provided [RCV003235962] | Chr4:6302463 [GRCh38] Chr4:6304190 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1243G>T (p.Val415Phe) | single nucleotide variant | Cataract 41 [RCV002278852] | Chr4:6301038 [GRCh38] Chr4:6302765 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1787A>T (p.Lys596Met) | single nucleotide variant | not provided [RCV002265098] | Chr4:6301582 [GRCh38] Chr4:6303309 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1971G>C (p.Met657Ile) | single nucleotide variant | not provided [RCV002293101] | Chr4:6301766 [GRCh38] Chr4:6303493 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) | single nucleotide variant | Cataract 41 [RCV002488669]|not provided [RCV002269488] | Chr4:6301011 [GRCh38] Chr4:6302738 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys) | single nucleotide variant | Type 2 diabetes mellitus [RCV003228060]|not provided [RCV002265152] | Chr4:6302061 [GRCh38] Chr4:6303788 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.848C>T (p.Pro283Leu) | single nucleotide variant | not provided [RCV002269601] | Chr4:6295176 [GRCh38] Chr4:6296903 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1462_1464del (p.Phe488del) | deletion | not provided [RCV002293910] | Chr4:6301256..6301258 [GRCh38] Chr4:6302983..6302985 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg) | single nucleotide variant | Wolfram syndrome 1 [RCV002283617]|not provided [RCV003096372] | Chr4:6301786 [GRCh38] Chr4:6303513 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.599T>C (p.Leu200Pro) | single nucleotide variant | not provided [RCV002291963] | Chr4:6291335 [GRCh38] Chr4:6293062 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.239C>T (p.Thr80Ile) | single nucleotide variant | not provided [RCV002267427] | Chr4:6287099 [GRCh38] Chr4:6288826 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 | copy number loss | See cases [RCV002286359] | Chr4:68345..20964575 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_006005.3(WFS1):c.-2_-1inv | inversion | not provided [RCV002285988] | Chr4:6277454..6277455 [GRCh38] Chr4:6279181..6279182 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.753dup (p.Lys252Ter) | duplication | not provided [RCV002269782] | Chr4:6295080..6295081 [GRCh38] Chr4:6296807..6296808 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1258C>T (p.Pro420Ser) | single nucleotide variant | not provided [RCV002286970] | Chr4:6301053 [GRCh38] Chr4:6302780 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 | copy number gain | FETAL DEMISE [RCV002282978] | Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV002286558] | Chr4:6301712 [GRCh38] Chr4:6303439 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1381_1383del (p.Thr461del) | deletion | not specified [RCV003236555] | Chr4:6301174..6301176 [GRCh38] Chr4:6302901..6302903 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2528A>G (p.Lys843Arg) | single nucleotide variant | not provided [RCV002287074] | Chr4:6302323 [GRCh38] Chr4:6304050 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV002290283] | Chr4:6287115 [GRCh38] Chr4:6288842 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2123G>A (p.Arg708His) | single nucleotide variant | not provided [RCV003230106] | Chr4:6301918 [GRCh38] Chr4:6303645 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1970T>C (p.Met657Thr) | single nucleotide variant | not provided [RCV002293727] | Chr4:6301765 [GRCh38] Chr4:6303492 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe) | duplication | Wolfram syndrome 1 [RCV002289299] | Chr4:6300811..6300812 [GRCh38] Chr4:6302538..6302539 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV002289346] | Chr4:6300907 [GRCh38] Chr4:6302634 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV002267791] | Chr4:6301738 [GRCh38] Chr4:6303465 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.939C>G (p.His313Gln) | single nucleotide variant | not provided [RCV002281412] | Chr4:6300734 [GRCh38] Chr4:6302461 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.259C>T (p.Pro87Ser) | single nucleotide variant | not provided [RCV002297707] | Chr4:6287119 [GRCh38] Chr4:6288846 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1491_1492insT (p.Val498fs) | insertion | Wolfram syndrome 1 [RCV002284028] | Chr4:6301286..6301287 [GRCh38] Chr4:6303013..6303014 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1892C>G (p.Ser631Cys) | single nucleotide variant | Inborn genetic diseases [RCV003305017] | Chr4:6301687 [GRCh38] Chr4:6303414 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2350A>C (p.Ser784Arg) | single nucleotide variant | Wolfram syndrome 1 [RCV003148591] | Chr4:6302145 [GRCh38] Chr4:6303872 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1063A>G (p.Ile355Val) | single nucleotide variant | WFS1-related disorder [RCV004529253]|not provided [RCV003149359] | Chr4:6300858 [GRCh38] Chr4:6302585 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.996C>A (p.Ile332=) | single nucleotide variant | not provided [RCV002474230] | Chr4:6300791 [GRCh38] Chr4:6302518 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.230C>G (p.Thr77Ser) | single nucleotide variant | not provided [RCV002302164] | Chr4:6277685 [GRCh38] Chr4:6279412 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1840A>G (p.Thr614Ala) | single nucleotide variant | not provided [RCV002303679] | Chr4:6301635 [GRCh38] Chr4:6303362 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.158G>C (p.Gly53Ala) | single nucleotide variant | Wolfram syndrome 1 [RCV002468547] | Chr4:6277613 [GRCh38] Chr4:6279340 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-55C>T | single nucleotide variant | Wolfram syndrome 1 [RCV002465958] | Chr4:6269965 [GRCh38] Chr4:6271692 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.2135T>G (p.Ile712Ser) | single nucleotide variant | not provided [RCV003149442] | Chr4:6301930 [GRCh38] Chr4:6303657 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.157G>C (p.Gly53Arg) | single nucleotide variant | not provided [RCV002299919] | Chr4:6277612 [GRCh38] Chr4:6279339 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.424G>T (p.Val142Leu) | single nucleotide variant | not provided [RCV002301013] | Chr4:6289095 [GRCh38] Chr4:6290822 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2078T>C (p.Leu693Pro) | single nucleotide variant | not provided [RCV002296073] | Chr4:6301873 [GRCh38] Chr4:6303600 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1247TCT[1] (p.Phe417del) | microsatellite | not provided [RCV002511178] | Chr4:6301042..6301044 [GRCh38] Chr4:6302769..6302771 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr) | single nucleotide variant | Wolfram syndrome 1 [RCV002509844]|not provided [RCV003689020] | Chr4:6300894 [GRCh38] Chr4:6302621 [GRCh37] Chr4:4p16.1 |
likely risk allele|uncertain significance |
NM_006005.3(WFS1):c.884C>G (p.Ala295Gly) | single nucleotide variant | Wolfram syndrome 1 [RCV002509848] | Chr4:6300679 [GRCh38] Chr4:6302406 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1020C>T (p.Phe340=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509850] | Chr4:6300815 [GRCh38] Chr4:6302542 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1192G>A (p.Gly398Ser) | single nucleotide variant | WFS1-related disorder [RCV004534111]|Wolfram syndrome 1 [RCV002509851]|not provided [RCV003225237] | Chr4:6300987 [GRCh38] Chr4:6302714 [GRCh37] Chr4:4p16.1 |
uncertain risk allele|uncertain significance |
NM_006005.3(WFS1):c.1450C>T (p.Leu484Phe) | single nucleotide variant | not provided [RCV002686247] | Chr4:6301245 [GRCh38] Chr4:6302972 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2223C>A (p.Ala741=) | single nucleotide variant | not provided [RCV003014043] | Chr4:6302018 [GRCh38] Chr4:6303745 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.453C>T (p.Asp151=) | single nucleotide variant | not provided [RCV002904281] | Chr4:6289124 [GRCh38] Chr4:6290851 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.122C>T (p.Pro41Leu) | single nucleotide variant | not provided [RCV002508606] | Chr4:6277577 [GRCh38] Chr4:6279304 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1421T>G (p.Met474Arg) | single nucleotide variant | Inborn genetic diseases [RCV002879856] | Chr4:6301216 [GRCh38] Chr4:6302943 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1603C>T (p.Leu535=) | single nucleotide variant | not provided [RCV003033149] | Chr4:6301398 [GRCh38] Chr4:6303125 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.154C>G (p.Pro52Ala) | single nucleotide variant | not provided [RCV002461686] | Chr4:6277609 [GRCh38] Chr4:6279336 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.615C>T (p.Gly205=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509136]|not provided [RCV002571569] | Chr4:6291351 [GRCh38] Chr4:6293078 [GRCh37] Chr4:4p16.1 |
benign|uncertain significance |
NM_006005.3(WFS1):c.2664G>C (p.Ser888=) | single nucleotide variant | not provided [RCV003074622] | Chr4:6302459 [GRCh38] Chr4:6304186 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1797C>T (p.Val599=) | single nucleotide variant | not provided [RCV003074080] | Chr4:6301592 [GRCh38] Chr4:6303319 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.413G>A (p.Arg138His) | single nucleotide variant | Inborn genetic diseases [RCV004068338]|not provided [RCV002971803] | Chr4:6289084 [GRCh38] Chr4:6290811 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.696C>T (p.Arg232=) | single nucleotide variant | not provided [RCV002681706] | Chr4:6291981 [GRCh38] Chr4:6293708 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1232C>G (p.Ser411Cys) | single nucleotide variant | not provided [RCV002995564] | Chr4:6301027 [GRCh38] Chr4:6302754 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser) | single nucleotide variant | Wolfram syndrome 1 [RCV003228102]|not provided [RCV002909007] | Chr4:6301896 [GRCh38] Chr4:6303623 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1825C>T (p.Leu609=) | single nucleotide variant | not provided [RCV002775033] | Chr4:6301620 [GRCh38] Chr4:6303347 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1832_1833delinsAT (p.Arg611His) | indel | not provided [RCV003075593] | Chr4:6301627..6301628 [GRCh38] Chr4:6303354..6303355 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2481C>G (p.Thr827=) | single nucleotide variant | not provided [RCV002685635] | Chr4:6302276 [GRCh38] Chr4:6304003 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.96G>C (p.Ser32=) | single nucleotide variant | not provided [RCV003017617] | Chr4:6277551 [GRCh38] Chr4:6279278 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.660C>T (p.Pro220=) | single nucleotide variant | not provided [RCV002972394] | Chr4:6291945 [GRCh38] Chr4:6293672 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.990C>T (p.Phe330=) | single nucleotide variant | not provided [RCV002756068] | Chr4:6300785 [GRCh38] Chr4:6302512 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1398C>T (p.Gly466=) | single nucleotide variant | not provided [RCV002967878] | Chr4:6301193 [GRCh38] Chr4:6302920 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.232+13G>A | single nucleotide variant | not provided [RCV002775663] | Chr4:6277700 [GRCh38] Chr4:6279427 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2268C>T (p.Arg756=) | single nucleotide variant | not provided [RCV002971919] | Chr4:6302063 [GRCh38] Chr4:6303790 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.837T>G (p.Pro279=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509849] | Chr4:6295165 [GRCh38] Chr4:6296892 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.873C>T (p.Tyr291=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509847]|not provided [RCV002574722] | Chr4:6300668 [GRCh38] Chr4:6302395 [GRCh37] Chr4:4p16.1 |
likely pathogenic|likely benign |
NM_006005.3(WFS1):c.1435C>T (p.Pro479Ser) | single nucleotide variant | not provided [RCV002614092] | Chr4:6301230 [GRCh38] Chr4:6302957 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1581C>G (p.Thr527=) | single nucleotide variant | not provided [RCV002838731] | Chr4:6301376 [GRCh38] Chr4:6303103 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.354T>A (p.Asp118Glu) | single nucleotide variant | Inborn genetic diseases [RCV002906498] | Chr4:6289025 [GRCh38] Chr4:6290752 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.713-1317A>T | single nucleotide variant | Wolfram syndrome 1 [RCV002509846] | Chr4:6293724 [GRCh38] Chr4:6295451 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1194C>T (p.Gly398=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509867] | Chr4:6300989 [GRCh38] Chr4:6302716 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1153G>C (p.Glu385Gln) | single nucleotide variant | not provided [RCV002993933] | Chr4:6300948 [GRCh38] Chr4:6302675 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1483C>T (p.His495Tyr) | single nucleotide variant | not provided [RCV003095630] | Chr4:6301278 [GRCh38] Chr4:6303005 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2259G>C (p.Glu753Asp) | single nucleotide variant | not provided [RCV002993570] | Chr4:6302054 [GRCh38] Chr4:6303781 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2646T>A (p.Phe882Leu) | single nucleotide variant | Inborn genetic diseases [RCV002817483] | Chr4:6302441 [GRCh38] Chr4:6304168 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.966C>G (p.His322Gln) | single nucleotide variant | not provided [RCV002908392] | Chr4:6300761 [GRCh38] Chr4:6302488 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.83A>C (p.Asn28Thr) | single nucleotide variant | not provided [RCV003033873] | Chr4:6277538 [GRCh38] Chr4:6279265 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1941C>A (p.Cys647Ter) | single nucleotide variant | Inborn genetic diseases [RCV002882906] | Chr4:6301736 [GRCh38] Chr4:6303463 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1094T>C (p.Phe365Ser) | single nucleotide variant | not provided [RCV002461655] | Chr4:6300889 [GRCh38] Chr4:6302616 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.589G>A (p.Val197Met) | single nucleotide variant | not provided [RCV002974825] | Chr4:6291325 [GRCh38] Chr4:6293052 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2539T>C (p.Cys847Arg) | single nucleotide variant | not provided [RCV003074552] | Chr4:6302334 [GRCh38] Chr4:6304061 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.604G>C (p.Glu202Gln) | single nucleotide variant | not provided [RCV002863449] | Chr4:6291340 [GRCh38] Chr4:6293067 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1435C>G (p.Pro479Ala) | single nucleotide variant | not provided [RCV002838300] | Chr4:6301230 [GRCh38] Chr4:6302957 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.764C>T (p.Ala255Val) | single nucleotide variant | not provided [RCV002462460] | Chr4:6295092 [GRCh38] Chr4:6296819 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.773T>C (p.Val258Ala) | single nucleotide variant | not provided [RCV002794829] | Chr4:6295101 [GRCh38] Chr4:6296828 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1530C>G (p.Tyr510Ter) | single nucleotide variant | not provided [RCV002908712] | Chr4:6301325 [GRCh38] Chr4:6303052 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.963G>A (p.Thr321=) | single nucleotide variant | not provided [RCV002912570] | Chr4:6300758 [GRCh38] Chr4:6302485 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2284A>G (p.Lys762Glu) | single nucleotide variant | Inborn genetic diseases [RCV002798555] | Chr4:6302079 [GRCh38] Chr4:6303806 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2343G>C (p.Met781Ile) | single nucleotide variant | not provided [RCV003080291] | Chr4:6302138 [GRCh38] Chr4:6303865 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.632-8C>A | single nucleotide variant | not provided [RCV002871502] | Chr4:6291909 [GRCh38] Chr4:6293636 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1328G>C (p.Ser443Thr) | single nucleotide variant | not provided [RCV003055669] | Chr4:6301123 [GRCh38] Chr4:6302850 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1767C>T (p.Phe589=) | single nucleotide variant | not provided [RCV003038407] | Chr4:6301562 [GRCh38] Chr4:6303289 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1170G>A (p.Val390=) | single nucleotide variant | not provided [RCV002622857] | Chr4:6300965 [GRCh38] Chr4:6302692 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1670_1671insA (p.Arg558fs) | insertion | not provided [RCV002870937] | Chr4:6301465..6301466 [GRCh38] Chr4:6303192..6303193 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1227G>A (p.Leu409=) | single nucleotide variant | not provided [RCV002593379] | Chr4:6301022 [GRCh38] Chr4:6302749 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1492G>C (p.Val498Leu) | single nucleotide variant | Inborn genetic diseases [RCV002797907] | Chr4:6301287 [GRCh38] Chr4:6303014 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del) | deletion | not provided [RCV002695972] | Chr4:6302248..6302295 [GRCh38] Chr4:6303975..6304022 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2552T>C (p.Met851Thr) | single nucleotide variant | not provided [RCV003055589] | Chr4:6302347 [GRCh38] Chr4:6304074 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.909G>A (p.Leu303=) | single nucleotide variant | not provided [RCV003022000] | Chr4:6300704 [GRCh38] Chr4:6302431 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1956C>T (p.Tyr652=) | single nucleotide variant | not provided [RCV002923233] | Chr4:6301751 [GRCh38] Chr4:6303478 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2662T>G (p.Ser888Ala) | single nucleotide variant | not provided [RCV002923234] | Chr4:6302457 [GRCh38] Chr4:6304184 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.136C>T (p.Pro46Ser) | single nucleotide variant | not provided [RCV003081683] | Chr4:6277591 [GRCh38] Chr4:6279318 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1646T>C (p.Leu549Pro) | single nucleotide variant | not provided [RCV002914419] | Chr4:6301441 [GRCh38] Chr4:6303168 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1407G>A (p.Ser469=) | single nucleotide variant | not provided [RCV002620240] | Chr4:6301202 [GRCh38] Chr4:6302929 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.337T>C (p.Leu113=) | single nucleotide variant | not provided [RCV002846606] | Chr4:6289008 [GRCh38] Chr4:6290735 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.862-3C>T | single nucleotide variant | not provided [RCV002800570] | Chr4:6300654 [GRCh38] Chr4:6302381 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.995T>C (p.Ile332Thr) | single nucleotide variant | Inborn genetic diseases [RCV002708180] | Chr4:6300790 [GRCh38] Chr4:6302517 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1372G>A (p.Ala458Thr) | single nucleotide variant | not provided [RCV003081312] | Chr4:6301167 [GRCh38] Chr4:6302894 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1446G>A (p.Lys482=) | single nucleotide variant | not provided [RCV002622942] | Chr4:6301241 [GRCh38] Chr4:6302968 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.812_835del (p.Asp271_Pro279delinsAla) | deletion | not provided [RCV002825219] | Chr4:6295140..6295163 [GRCh38] Chr4:6296867..6296890 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1801G>T (p.Val601Leu) | single nucleotide variant | not provided [RCV002979015] | Chr4:6301596 [GRCh38] Chr4:6303323 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.632-10T>G | single nucleotide variant | not provided [RCV002871499] | Chr4:6291907 [GRCh38] Chr4:6293634 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.316-9G>C | single nucleotide variant | not provided [RCV002622957] | Chr4:6288978 [GRCh38] Chr4:6290705 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.232+19_232+32del | deletion | not provided [RCV002622889] | Chr4:6277697..6277710 [GRCh38] Chr4:6279424..6279437 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.361C>A (p.Leu121Ile) | single nucleotide variant | Wolfram syndrome 1 [RCV002509133]|not provided [RCV003679139] | Chr4:6289032 [GRCh38] Chr4:6290759 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-21_862-14del | deletion | not provided [RCV002658635] | Chr4:6300634..6300641 [GRCh38] Chr4:6302361..6302368 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1224C>T (p.Phe408=) | single nucleotide variant | not provided [RCV002976251] | Chr4:6301019 [GRCh38] Chr4:6302746 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.176C>A (p.Ala59Asp) | single nucleotide variant | not provided [RCV002659597] | Chr4:6277631 [GRCh38] Chr4:6279358 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.386_398del (p.Trp129fs) | deletion | not provided [RCV002847607] | Chr4:6289057..6289069 [GRCh38] Chr4:6290784..6290796 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.460+11G>A | single nucleotide variant | not provided [RCV003079175] | Chr4:6289142 [GRCh38] Chr4:6290869 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs) | insertion | Autosomal dominant nonsyndromic hearing loss 6 [RCV002509845] | Chr4:6301339..6301340 [GRCh38] Chr4:6303066..6303067 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.665C>A (p.Ser222Tyr) | single nucleotide variant | not provided [RCV002953047] | Chr4:6291950 [GRCh38] Chr4:6293677 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.784del (p.Ser262fs) | deletion | not provided [RCV002885374] | Chr4:6295112 [GRCh38] Chr4:6296839 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1190T>G (p.Phe397Cys) | single nucleotide variant | not provided [RCV002706432] | Chr4:6300985 [GRCh38] Chr4:6302712 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.712+12C>T | single nucleotide variant | not provided [RCV002621799] | Chr4:6292009 [GRCh38] Chr4:6293736 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.813T>C (p.Asp271=) | single nucleotide variant | not provided [RCV002927006] | Chr4:6295141 [GRCh38] Chr4:6296868 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1370G>C (p.Arg457Thr) | single nucleotide variant | not provided [RCV003054314] | Chr4:6301165 [GRCh38] Chr4:6302892 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2335G>T (p.Val779Leu) | single nucleotide variant | not provided [RCV002636865] | Chr4:6302130 [GRCh38] Chr4:6303857 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.45C>T (p.Pro15=) | single nucleotide variant | not provided [RCV002694940] | Chr4:6277500 [GRCh38] Chr4:6279227 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2550C>T (p.Cys850=) | single nucleotide variant | not provided [RCV002866837] | Chr4:6302345 [GRCh38] Chr4:6304072 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1187A>C (p.Asn396Thr) | single nucleotide variant | Inborn genetic diseases [RCV002692703] | Chr4:6300982 [GRCh38] Chr4:6302709 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.115G>T (p.Glu39Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV002509132] | Chr4:6277570 [GRCh38] Chr4:6279297 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.316-14T>G | single nucleotide variant | Wolfram syndrome 1 [RCV002509134] | Chr4:6288973 [GRCh38] Chr4:6290700 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.461-169_461-168insAGGAGCATG | insertion | Wolfram syndrome 1 [RCV002509135] | Chr4:6291028..6291029 [GRCh38] Chr4:6292755..6292756 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1813A>G (p.Ser605Gly) | single nucleotide variant | not provided [RCV003079099] | Chr4:6301608 [GRCh38] Chr4:6303335 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.138C>T (p.Pro46=) | single nucleotide variant | not provided [RCV002847319] | Chr4:6277593 [GRCh38] Chr4:6279320 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2637C>A (p.Phe879Leu) | single nucleotide variant | not provided [RCV002781008] | Chr4:6302432 [GRCh38] Chr4:6304159 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1377G>C (p.Leu459=) | single nucleotide variant | not provided [RCV003021116] | Chr4:6301172 [GRCh38] Chr4:6302899 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.968A>T (p.His323Leu) | single nucleotide variant | Wolfram syndrome 1 [RCV002509139] | Chr4:6300763 [GRCh38] Chr4:6302490 [GRCh37] Chr4:4p16.1 |
uncertain risk allele |
NM_006005.3(WFS1):c.1525_1539dup (p.Tyr513_Leu514insValTyrLeuLeuTyr) | duplication | not provided [RCV002637238] | Chr4:6301309..6301310 [GRCh38] Chr4:6303036..6303037 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+11T>C | single nucleotide variant | not provided [RCV002824320] | Chr4:6291378 [GRCh38] Chr4:6293105 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1875G>A (p.Lys625=) | single nucleotide variant | not provided [RCV002889134] | Chr4:6301670 [GRCh38] Chr4:6303397 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2127G>C (p.Val709=) | single nucleotide variant | not provided [RCV003038742] | Chr4:6301922 [GRCh38] Chr4:6303649 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1512G>C (p.Pro504=) | single nucleotide variant | not provided [RCV002760469] | Chr4:6301307 [GRCh38] Chr4:6303034 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2251GAG[2] (p.Glu753del) | microsatellite | not provided [RCV003080960] | Chr4:6302046..6302048 [GRCh38] Chr4:6303773..6303775 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.952ATC[1] (p.Ile319del) | microsatellite | not provided [RCV002760961] | Chr4:6300746..6300748 [GRCh38] Chr4:6302473..6302475 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1068C>T (p.Ser356=) | single nucleotide variant | not provided [RCV002948902] | Chr4:6300863 [GRCh38] Chr4:6302590 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2179A>G (p.Ile727Val) | single nucleotide variant | not provided [RCV002760272] | Chr4:6301974 [GRCh38] Chr4:6303701 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2638G>A (p.Asp880Asn) | single nucleotide variant | Wolfram syndrome 1 [RCV003147826]|not provided [RCV002592127] | Chr4:6302433 [GRCh38] Chr4:6304160 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1588T>A (p.Tyr530Asn) | single nucleotide variant | not provided [RCV003000006] | Chr4:6301383 [GRCh38] Chr4:6303110 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1728C>G (p.Gly576=) | single nucleotide variant | not provided [RCV002760768] | Chr4:6301523 [GRCh38] Chr4:6303250 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.13dup (p.Thr5fs) | duplication | not provided [RCV002913464] | Chr4:6277467..6277468 [GRCh38] Chr4:6279194..6279195 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1703T>C (p.Phe568Ser) | single nucleotide variant | not provided [RCV003001894] | Chr4:6301498 [GRCh38] Chr4:6303225 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.351G>A (p.Thr117=) | single nucleotide variant | not provided [RCV003077968] | Chr4:6289022 [GRCh38] Chr4:6290749 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.81C>G (p.Leu27=) | single nucleotide variant | Wolfram syndrome 1 [RCV002509131] | Chr4:6277536 [GRCh38] Chr4:6279263 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.1221T>G (p.His407Gln) | single nucleotide variant | not provided [RCV003083028] | Chr4:6301016 [GRCh38] Chr4:6302743 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.45C>A (p.Pro15=) | single nucleotide variant | not provided [RCV002932179] | Chr4:6277500 [GRCh38] Chr4:6279227 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1248C>T (p.Ile416=) | single nucleotide variant | not provided [RCV002576231] | Chr4:6301043 [GRCh38] Chr4:6302770 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1342A>G (p.Ser448Gly) | single nucleotide variant | not provided [RCV002957894] | Chr4:6301137 [GRCh38] Chr4:6302864 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1857T>C (p.Ser619=) | single nucleotide variant | not provided [RCV002576428] | Chr4:6301652 [GRCh38] Chr4:6303379 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.662A>C (p.Lys221Thr) | single nucleotide variant | not provided [RCV003007939] | Chr4:6291947 [GRCh38] Chr4:6293674 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.997G>C (p.Val333Leu) | single nucleotide variant | not provided [RCV003039715] | Chr4:6300792 [GRCh38] Chr4:6302519 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1544T>C (p.Phe515Ser) | single nucleotide variant | not provided [RCV002802144] | Chr4:6301339 [GRCh38] Chr4:6303066 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1633G>T (p.Val545Leu) | single nucleotide variant | not provided [RCV003042868] | Chr4:6301428 [GRCh38] Chr4:6303155 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2283C>T (p.Ala761=) | single nucleotide variant | not provided [RCV002805847] | Chr4:6302078 [GRCh38] Chr4:6303805 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2168T>C (p.Leu723Pro) | single nucleotide variant | not provided [RCV002664338] | Chr4:6301963 [GRCh38] Chr4:6303690 [GRCh37] Chr4:4p16.1 |
pathogenic|uncertain significance |
NM_006005.3(WFS1):c.2588T>C (p.Ile863Thr) | single nucleotide variant | not provided [RCV002666664] | Chr4:6302383 [GRCh38] Chr4:6304110 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2099G>T (p.Trp700Leu) | single nucleotide variant | not provided [RCV003056226] | Chr4:6301894 [GRCh38] Chr4:6303621 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1283C>G (p.Pro428Arg) | single nucleotide variant | not provided [RCV002664336] | Chr4:6301078 [GRCh38] Chr4:6302805 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2131G>A (p.Asp711Asn) | single nucleotide variant | not provided [RCV003082287] | Chr4:6301926 [GRCh38] Chr4:6303653 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.48G>A (p.Pro16=) | single nucleotide variant | not provided [RCV002572412] | Chr4:6277503 [GRCh38] Chr4:6279230 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2349C>A (p.Phe783Leu) | single nucleotide variant | not provided [RCV003057479] | Chr4:6302144 [GRCh38] Chr4:6303871 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.667C>T (p.Leu223=) | single nucleotide variant | not provided [RCV002801316] | Chr4:6291952 [GRCh38] Chr4:6293679 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.460+14del | deletion | not provided [RCV003005348] | Chr4:6289145 [GRCh38] Chr4:6290872 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1274A>C (p.Asp425Ala) | single nucleotide variant | Inborn genetic diseases [RCV002873039] | Chr4:6301069 [GRCh38] Chr4:6302796 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1201C>T (p.His401Tyr) | single nucleotide variant | not provided [RCV003058141] | Chr4:6300996 [GRCh38] Chr4:6302723 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.943C>T (p.Leu315=) | single nucleotide variant | not provided [RCV003024961] | Chr4:6300738 [GRCh38] Chr4:6302465 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1669C>T (p.Leu557Phe) | single nucleotide variant | not provided [RCV002664337] | Chr4:6301464 [GRCh38] Chr4:6303191 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1349A>C (p.His450Pro) | single nucleotide variant | not provided [RCV002624701] | Chr4:6301144 [GRCh38] Chr4:6302871 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.280A>G (p.Arg94Gly) | single nucleotide variant | not provided [RCV003040053] | Chr4:6287140 [GRCh38] Chr4:6288867 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.318G>A (p.Val106=) | single nucleotide variant | not provided [RCV003024446] | Chr4:6288989 [GRCh38] Chr4:6290716 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.461-6C>A | single nucleotide variant | not provided [RCV002985225] | Chr4:6291191 [GRCh38] Chr4:6292918 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1332C>T (p.Tyr444=) | single nucleotide variant | not provided [RCV002663355] | Chr4:6301127 [GRCh38] Chr4:6302854 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1499_1500inv (p.Asn500Ser) | inversion | not provided [RCV002765362] | Chr4:6301294..6301295 [GRCh38] Chr4:6303021..6303022 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2382GGA[1] (p.Glu795del) | microsatellite | not provided [RCV002625033] | Chr4:6302175..6302177 [GRCh38] Chr4:6303902..6303904 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.460+13G>A | single nucleotide variant | not provided [RCV003041347] | Chr4:6289144 [GRCh38] Chr4:6290871 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1138C>G (p.Leu380Val) | single nucleotide variant | not provided [RCV002958686] | Chr4:6300933 [GRCh38] Chr4:6302660 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1443G>A (p.Leu481=) | single nucleotide variant | not provided [RCV002594916] | Chr4:6301238 [GRCh38] Chr4:6302965 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1052A>C (p.Tyr351Ser) | single nucleotide variant | not provided [RCV003042293] | Chr4:6300847 [GRCh38] Chr4:6302574 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1979A>G (p.Tyr660Cys) | single nucleotide variant | not provided [RCV002957707] | Chr4:6301774 [GRCh38] Chr4:6303501 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1652C>T (p.Ser551Phe) | single nucleotide variant | not provided [RCV003042338] | Chr4:6301447 [GRCh38] Chr4:6303174 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2655A>C (p.Pro885=) | single nucleotide variant | not provided [RCV002850879] | Chr4:6302450 [GRCh38] Chr4:6304177 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.802G>A (p.Asp268Asn) | single nucleotide variant | not provided [RCV002917551] | Chr4:6295130 [GRCh38] Chr4:6296857 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1305C>T (p.Ile435=) | single nucleotide variant | not provided [RCV002958218] | Chr4:6301100 [GRCh38] Chr4:6302827 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.460+5G>A | single nucleotide variant | not provided [RCV002894273] | Chr4:6289136 [GRCh38] Chr4:6290863 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2664GGC[1] (p.Ala890del) | microsatellite | not provided [RCV003041527] | Chr4:6302458..6302460 [GRCh38] Chr4:6304185..6304187 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.713-8T>C | single nucleotide variant | not provided [RCV003041925] | Chr4:6295033 [GRCh38] Chr4:6296760 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1326C>T (p.Thr442=) | single nucleotide variant | not provided [RCV003056788] | Chr4:6301121 [GRCh38] Chr4:6302848 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1177G>A (p.Ala393Thr) | single nucleotide variant | not provided [RCV002766233] | Chr4:6300972 [GRCh38] Chr4:6302699 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1059C>A (p.Ser353=) | single nucleotide variant | not provided [RCV002872608] | Chr4:6300854 [GRCh38] Chr4:6302581 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2038_2040del (p.Glu680del) | deletion | not provided [RCV002745364] | Chr4:6301831..6301833 [GRCh38] Chr4:6303558..6303560 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1230C>T (p.Leu410=) | single nucleotide variant | not provided [RCV002953888] | Chr4:6301025 [GRCh38] Chr4:6302752 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2273A>G (p.Lys758Arg) | single nucleotide variant | not provided [RCV002602707] | Chr4:6302068 [GRCh38] Chr4:6303795 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1728C>A (p.Gly576=) | single nucleotide variant | not provided [RCV002676520] | Chr4:6301523 [GRCh38] Chr4:6303250 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1993A>T (p.Thr665Ser) | single nucleotide variant | not provided [RCV002941917] | Chr4:6301788 [GRCh38] Chr4:6303515 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1644G>C (p.Leu548=) | single nucleotide variant | not provided [RCV002628113] | Chr4:6301439 [GRCh38] Chr4:6303166 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1982A>C (p.Asn661Thr) | single nucleotide variant | not provided [RCV002770574] | Chr4:6301777 [GRCh38] Chr4:6303504 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.713-4T>C | single nucleotide variant | not provided [RCV002650617] | Chr4:6295037 [GRCh38] Chr4:6296764 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.599del (p.Leu200fs) | deletion | not provided [RCV002651803] | Chr4:6291335 [GRCh38] Chr4:6293062 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1458G>A (p.Gln486=) | single nucleotide variant | not provided [RCV002810956] | Chr4:6301253 [GRCh38] Chr4:6302980 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.969C>T (p.His323=) | single nucleotide variant | not provided [RCV002647141] | Chr4:6300764 [GRCh38] Chr4:6302491 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1757C>T (p.Ala586Val) | single nucleotide variant | not provided [RCV002676359] | Chr4:6301552 [GRCh38] Chr4:6303279 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.200A>C (p.His67Pro) | single nucleotide variant | not provided [RCV002811888] | Chr4:6277655 [GRCh38] Chr4:6279382 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1009A>G (p.Thr337Ala) | single nucleotide variant | not provided [RCV003064113] | Chr4:6300804 [GRCh38] Chr4:6302531 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1948T>C (p.Tyr650His) | single nucleotide variant | not provided [RCV002651812] | Chr4:6301743 [GRCh38] Chr4:6303470 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1660C>T (p.Leu554=) | single nucleotide variant | not provided [RCV003031915] | Chr4:6301455 [GRCh38] Chr4:6303182 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.108G>A (p.Glu36=) | single nucleotide variant | not provided [RCV003046695] | Chr4:6277563 [GRCh38] Chr4:6279290 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.336G>A (p.Gln112=) | single nucleotide variant | not provided [RCV003091783] | Chr4:6289007 [GRCh38] Chr4:6290734 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.343G>C (p.Gly115Arg) | single nucleotide variant | not provided [RCV002602706] | Chr4:6289014 [GRCh38] Chr4:6290741 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1456C>T (p.Gln486Ter) | single nucleotide variant | not provided [RCV002651806] | Chr4:6301251 [GRCh38] Chr4:6302978 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1681A>T (p.Ile561Phe) | single nucleotide variant | not provided [RCV003026275] | Chr4:6301476 [GRCh38] Chr4:6303203 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2021G>A (p.Gly674Glu) | single nucleotide variant | not provided [RCV002651814] | Chr4:6301816 [GRCh38] Chr4:6303543 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.853C>T (p.Arg285Cys) | single nucleotide variant | not provided [RCV003065150] | Chr4:6295181 [GRCh38] Chr4:6296908 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2621C>G (p.Ala874Gly) | single nucleotide variant | not provided [RCV002676127] | Chr4:6302416 [GRCh38] Chr4:6304143 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1529_1543del (p.Tyr510_Leu514del) | deletion | not provided [RCV002651809] | Chr4:6301321..6301335 [GRCh38] Chr4:6303048..6303062 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2068T>C (p.Cys690Arg) | single nucleotide variant | not provided [RCV002651815] | Chr4:6301863 [GRCh38] Chr4:6303590 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2345C>T (p.Pro782Leu) | single nucleotide variant | not provided [RCV002807044] | Chr4:6302140 [GRCh38] Chr4:6303867 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.166G>A (p.Asp56Asn) | single nucleotide variant | not provided [RCV003062097] | Chr4:6277621 [GRCh38] Chr4:6279348 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.457A>C (p.Arg153=) | single nucleotide variant | not provided [RCV002922984] | Chr4:6289128 [GRCh38] Chr4:6290855 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.541C>T (p.Leu181=) | single nucleotide variant | WFS1-related disorder [RCV004536500]|not provided [RCV002963228] | Chr4:6291277 [GRCh38] Chr4:6293004 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1681A>C (p.Ile561Leu) | single nucleotide variant | not provided [RCV003088156] | Chr4:6301476 [GRCh38] Chr4:6303203 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1289C>A (p.Ser430Ter) | single nucleotide variant | not provided [RCV002895898] | Chr4:6301084 [GRCh38] Chr4:6302811 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe) | single nucleotide variant | not provided [RCV002647198] | Chr4:6291295 [GRCh38] Chr4:6293022 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1722G>A (p.Val574=) | single nucleotide variant | not provided [RCV002628333] | Chr4:6301517 [GRCh38] Chr4:6303244 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1879C>T (p.Leu627=) | single nucleotide variant | not provided [RCV002937186] | Chr4:6301674 [GRCh38] Chr4:6303401 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1563G>A (p.Leu521=) | single nucleotide variant | not provided [RCV003044446] | Chr4:6301358 [GRCh38] Chr4:6303085 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1901A>G (p.Lys634Arg) | single nucleotide variant | not provided [RCV003087715] | Chr4:6301696 [GRCh38] Chr4:6303423 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.967_968delinsAT (p.His323Ile) | indel | not provided [RCV002649328] | Chr4:6300762..6300763 [GRCh38] Chr4:6302489..6302490 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2571C>T (p.Thr857=) | single nucleotide variant | not provided [RCV002921991] | Chr4:6302366 [GRCh38] Chr4:6304093 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1744G>T (p.Val582Leu) | single nucleotide variant | not provided [RCV002577688] | Chr4:6301539 [GRCh38] Chr4:6303266 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.650G>T (p.Gly217Val) | single nucleotide variant | not provided [RCV002646693] | Chr4:6291935 [GRCh38] Chr4:6293662 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1621T>G (p.Cys541Gly) | single nucleotide variant | not provided [RCV002832905] | Chr4:6301416 [GRCh38] Chr4:6303143 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.897C>G (p.Ile299Met) | single nucleotide variant | Inborn genetic diseases [RCV002897681] | Chr4:6300692 [GRCh38] Chr4:6302419 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1364C>A (p.Thr455Lys) | single nucleotide variant | not provided [RCV002922673] | Chr4:6301159 [GRCh38] Chr4:6302886 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1591C>T (p.Leu531Phe) | single nucleotide variant | not provided [RCV002806044] | Chr4:6301386 [GRCh38] Chr4:6303113 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1351G>A (p.Ala451Thr) | single nucleotide variant | not provided [RCV003061332] | Chr4:6301146 [GRCh38] Chr4:6302873 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1383C>T (p.Thr461=) | single nucleotide variant | not provided [RCV002648167] | Chr4:6301178 [GRCh38] Chr4:6302905 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1415C>T (p.Pro472Leu) | single nucleotide variant | not provided [RCV002811844] | Chr4:6301210 [GRCh38] Chr4:6302937 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.503C>A (p.Ser168Tyr) | single nucleotide variant | not provided [RCV003031026] | Chr4:6291239 [GRCh38] Chr4:6292966 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1659C>T (p.Gly553=) | single nucleotide variant | not provided [RCV003047575] | Chr4:6301454 [GRCh38] Chr4:6303181 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1578C>T (p.Gly526=) | single nucleotide variant | not provided [RCV003064950] | Chr4:6301373 [GRCh38] Chr4:6303100 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.110G>C (p.Arg37Thr) | single nucleotide variant | not provided [RCV002646480] | Chr4:6277565 [GRCh38] Chr4:6279292 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1338C>G (p.Ser446Arg) | single nucleotide variant | not provided [RCV002857112] | Chr4:6301133 [GRCh38] Chr4:6302860 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.861+20G>A | single nucleotide variant | not provided [RCV002933471] | Chr4:6295209 [GRCh38] Chr4:6296936 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1174C>G (p.Gln392Glu) | single nucleotide variant | not provided [RCV003059993] | Chr4:6300969 [GRCh38] Chr4:6302696 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1757C>G (p.Ala586Gly) | single nucleotide variant | not provided [RCV003090386] | Chr4:6301552 [GRCh38] Chr4:6303279 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1806G>T (p.Ala602=) | single nucleotide variant | not provided [RCV003090921] | Chr4:6301601 [GRCh38] Chr4:6303328 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.334C>T (p.Gln112Ter) | single nucleotide variant | not provided [RCV002651802] | Chr4:6289005 [GRCh38] Chr4:6290732 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1010C>T (p.Thr337Ile) | single nucleotide variant | not provided [RCV002651804] | Chr4:6300805 [GRCh38] Chr4:6302532 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1232_1233del (p.Ser411fs) | microsatellite | not provided [RCV002651805] | Chr4:6301023..6301024 [GRCh38] Chr4:6302750..6302751 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1523_1524del (p.Tyr508fs) | deletion | Wolfram syndrome 1 [RCV003316883]|Wolfram-like syndrome [RCV003323304]|not provided [RCV002651807] | Chr4:6301317..6301318 [GRCh38] Chr4:6303044..6303045 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.1526T>G (p.Val509Gly) | single nucleotide variant | not provided [RCV002651808] | Chr4:6301321 [GRCh38] Chr4:6303048 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1582T>C (p.Tyr528His) | single nucleotide variant | not provided [RCV002651810] | Chr4:6301377 [GRCh38] Chr4:6303104 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg) | single nucleotide variant | not provided [RCV002651811] | Chr4:6301423 [GRCh38] Chr4:6303150 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.791T>C (p.Phe264Ser) | single nucleotide variant | not provided [RCV002922439] | Chr4:6295119 [GRCh38] Chr4:6296846 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1198A>G (p.Asn400Asp) | single nucleotide variant | not provided [RCV003026649] | Chr4:6300993 [GRCh38] Chr4:6302720 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1589A>G (p.Tyr530Cys) | single nucleotide variant | not provided [RCV002966814] | Chr4:6301384 [GRCh38] Chr4:6303111 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.765C>T (p.Ala255=) | single nucleotide variant | not provided [RCV002966416] | Chr4:6295093 [GRCh38] Chr4:6296820 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.140A>G (p.Gln47Arg) | single nucleotide variant | not provided [RCV003065781] | Chr4:6277595 [GRCh38] Chr4:6279322 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2187C>T (p.Asp729=) | single nucleotide variant | not provided [RCV003060896] | Chr4:6301982 [GRCh38] Chr4:6303709 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2390A>T (p.Asp797Val) | single nucleotide variant | not provided [RCV002651817] | Chr4:6302185 [GRCh38] Chr4:6303912 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1683C>G (p.Ile561Met) | single nucleotide variant | not provided [RCV003087891] | Chr4:6301478 [GRCh38] Chr4:6303205 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1024_1032del (p.Ala342_Phe344del) | deletion | not provided [RCV002857512] | Chr4:6300812..6300820 [GRCh38] Chr4:6302539..6302547 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.450G>A (p.Ala150=) | single nucleotide variant | not provided [RCV002988647] | Chr4:6289121 [GRCh38] Chr4:6290848 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1965G>C (p.Glu655Asp) | single nucleotide variant | not provided [RCV002937989] | Chr4:6301760 [GRCh38] Chr4:6303487 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2354G>T (p.Ser785Ile) | single nucleotide variant | Inborn genetic diseases [RCV002920883] | Chr4:6302149 [GRCh38] Chr4:6303876 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1566G>A (p.Arg522=) | single nucleotide variant | not provided [RCV003066480] | Chr4:6301361 [GRCh38] Chr4:6303088 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1327A>G (p.Ser443Gly) | single nucleotide variant | not provided [RCV002942555] | Chr4:6301122 [GRCh38] Chr4:6302849 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.976G>T (p.Ala326Ser) | single nucleotide variant | WFS1-related disorder [RCV004536629]|not provided [RCV002582289] | Chr4:6300771 [GRCh38] Chr4:6302498 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1110C>T (p.Ala370=) | single nucleotide variant | not provided [RCV002604136] | Chr4:6300905 [GRCh38] Chr4:6302632 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1122C>A (p.Phe374Leu) | single nucleotide variant | not provided [RCV002721671] | Chr4:6300917 [GRCh38] Chr4:6302644 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1512G>A (p.Pro504=) | single nucleotide variant | not provided [RCV003069766] | Chr4:6301307 [GRCh38] Chr4:6303034 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2378G>A (p.Arg793His) | single nucleotide variant | not provided [RCV002603757] | Chr4:6302173 [GRCh38] Chr4:6303900 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.669G>A (p.Leu223=) | single nucleotide variant | not provided [RCV003069863] | Chr4:6291954 [GRCh38] Chr4:6293681 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.130C>A (p.Pro44Thr) | single nucleotide variant | not provided [RCV002654712] | Chr4:6277585 [GRCh38] Chr4:6279312 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1671C>G (p.Leu557=) | single nucleotide variant | not provided [RCV002654647] | Chr4:6301466 [GRCh38] Chr4:6303193 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1606G>C (p.Val536Leu) | single nucleotide variant | not provided [RCV003067874] | Chr4:6301401 [GRCh38] Chr4:6303128 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1395C>G (p.Ala465=) | single nucleotide variant | not provided [RCV002583233] | Chr4:6301190 [GRCh38] Chr4:6302917 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2137G>A (p.Asp713Asn) | single nucleotide variant | not provided [RCV002582216] | Chr4:6301932 [GRCh38] Chr4:6303659 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1129C>G (p.Leu377Val) | single nucleotide variant | not provided [RCV002633301] | Chr4:6300924 [GRCh38] Chr4:6302651 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2160C>G (p.Ile720Met) | single nucleotide variant | Inborn genetic diseases [RCV002944555] | Chr4:6301955 [GRCh38] Chr4:6303682 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2558A>C (p.Gln853Pro) | single nucleotide variant | not provided [RCV003032125] | Chr4:6302353 [GRCh38] Chr4:6304080 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr) | single nucleotide variant | not provided [RCV003129521] | Chr4:6302106 [GRCh38] Chr4:6303833 [GRCh37] Chr4:4p16.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006005.3(WFS1):c.907C>G (p.Leu303Val) | single nucleotide variant | not provided [RCV002604252] | Chr4:6300702 [GRCh38] Chr4:6302429 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1230C>G (p.Leu410=) | single nucleotide variant | not provided [RCV002588738] | Chr4:6301025 [GRCh38] Chr4:6302752 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.713-6C>T | single nucleotide variant | not provided [RCV003070220] | Chr4:6295035 [GRCh38] Chr4:6296762 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1264G>T (p.Ala422Ser) | single nucleotide variant | not provided [RCV002635313] | Chr4:6301059 [GRCh38] Chr4:6302786 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2459G>T (p.Gly820Val) | single nucleotide variant | Wolfram syndrome 1 [RCV003148579] | Chr4:6302254 [GRCh38] Chr4:6303981 [GRCh37] Chr4:4p16.1 |
likely risk allele |
NM_006005.3(WFS1):c.2484C>A (p.Ile828=) | single nucleotide variant | Wolfram syndrome 1 [RCV003148620]|not provided [RCV003730410] | Chr4:6302279 [GRCh38] Chr4:6304006 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1821C>T (p.Pro607=) | single nucleotide variant | not provided [RCV002582497] | Chr4:6301616 [GRCh38] Chr4:6303343 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.890T>C (p.Met297Thr) | single nucleotide variant | not provided [RCV002603401] | Chr4:6300685 [GRCh38] Chr4:6302412 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2082G>A (p.Glu694=) | single nucleotide variant | not provided [RCV002583234] | Chr4:6301877 [GRCh38] Chr4:6303604 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1408C>T (p.Leu470=) | single nucleotide variant | not provided [RCV003070743] | Chr4:6301203 [GRCh38] Chr4:6302930 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1858G>C (p.Val620Leu) | single nucleotide variant | not provided [RCV002606819] | Chr4:6301653 [GRCh38] Chr4:6303380 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.181G>A (p.Ala61Thr) | single nucleotide variant | not provided [RCV003052656] | Chr4:6277636 [GRCh38] Chr4:6279363 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.316-2A>G | single nucleotide variant | not provided [RCV002605318] | Chr4:6288985 [GRCh38] Chr4:6290712 [GRCh37] Chr4:4p16.1 |
pathogenic|likely pathogenic |
NM_006005.3(WFS1):c.2154T>C (p.Ser718=) | single nucleotide variant | WFS1-related disorder [RCV004540510]|not provided [RCV003070970] | Chr4:6301949 [GRCh38] Chr4:6303676 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2373C>T (p.Arg791=) | single nucleotide variant | not provided [RCV003071196] | Chr4:6302168 [GRCh38] Chr4:6303895 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1167T>C (p.Asp389=) | single nucleotide variant | not provided [RCV003071227] | Chr4:6300962 [GRCh38] Chr4:6302689 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1637T>G (p.Val546Gly) | single nucleotide variant | not provided [RCV002584899] | Chr4:6301432 [GRCh38] Chr4:6303159 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.471C>G (p.Ser157=) | single nucleotide variant | not provided [RCV003852788] | Chr4:6291207 [GRCh38] Chr4:6292934 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1480G>T (p.Gly494Cys) | single nucleotide variant | not provided [RCV002606248] | Chr4:6301275 [GRCh38] Chr4:6303002 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1899C>T (p.Val633=) | single nucleotide variant | not provided [RCV003072417] | Chr4:6301694 [GRCh38] Chr4:6303421 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2659C>T (p.Leu887=) | single nucleotide variant | not provided [RCV003072611] | Chr4:6302454 [GRCh38] Chr4:6304181 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2143A>G (p.Ser715Gly) | single nucleotide variant | not provided [RCV002583232] | Chr4:6301938 [GRCh38] Chr4:6303665 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2546A>G (p.Asn849Ser) | single nucleotide variant | not provided [RCV002610263] | Chr4:6302341 [GRCh38] Chr4:6304068 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.498C>T (p.Leu166=) | single nucleotide variant | not provided [RCV002582211] | Chr4:6291234 [GRCh38] Chr4:6292961 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.568A>C (p.Lys190Gln) | single nucleotide variant | not provided [RCV003073109] | Chr4:6291304 [GRCh38] Chr4:6293031 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.174G>A (p.Ala58=) | single nucleotide variant | not provided [RCV002610517] | Chr4:6277629 [GRCh38] Chr4:6279356 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1359C>T (p.Pro453=) | single nucleotide variant | WFS1-related disorder [RCV004540544]|not provided [RCV003073183] | Chr4:6301154 [GRCh38] Chr4:6302881 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1329C>T (p.Ser443=) | single nucleotide variant | not provided [RCV002588095] | Chr4:6301124 [GRCh38] Chr4:6302851 [GRCh37] Chr4:4p16.1 |
likely benign |
NC_000004.12:g.6304102C>A | single nucleotide variant | Wolfram syndrome 1 [RCV003149065] | Chr4:6304102 [GRCh38] Chr4:6305829 [GRCh37] Chr4:4p16.1 |
benign |
NM_006005.3(WFS1):c.890_937dup (p.Met312_His313insLeuGluIleLysGluTyrLeuIleAspMetAlaSerArgAlaGlyMet) | duplication | not provided [RCV003131902] | Chr4:6300684..6300685 [GRCh38] Chr4:6302411..6302412 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2570C>T (p.Thr857Ile) | single nucleotide variant | Wolfram syndrome 1 [RCV003149086] | Chr4:6302365 [GRCh38] Chr4:6304092 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1045A>G (p.Ile349Val) | single nucleotide variant | not provided [RCV003228544] | Chr4:6300840 [GRCh38] Chr4:6302567 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe) | single nucleotide variant | Wolfram syndrome 1 [RCV003223364] | Chr4:6301422 [GRCh38] Chr4:6303149 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1399C>A (p.Leu467Met) | single nucleotide variant | Inborn genetic diseases [RCV003194635] | Chr4:6301194 [GRCh38] Chr4:6302921 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1]) | deletion | not provided [RCV003229488] | Chr4:6301494..6301499 [GRCh38] Chr4:6303221..6303226 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1877C>T (p.Ser626Phe) | single nucleotide variant | not provided [RCV003139355] | Chr4:6301672 [GRCh38] Chr4:6303399 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-5-1409G>T | single nucleotide variant | not provided [RCV003139356] | Chr4:6276042 [GRCh38] Chr4:6277769 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2542C>T (p.Leu848Phe) | single nucleotide variant | not provided [RCV003139357] | Chr4:6302337 [GRCh38] Chr4:6304064 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.-6+1824G>C | single nucleotide variant | not provided [RCV003139358] | Chr4:6271838 [GRCh38] Chr4:6273565 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly) | single nucleotide variant | Auditory neuropathy [RCV003483914]|not provided [RCV003227243] | Chr4:6301303 [GRCh38] Chr4:6303030 [GRCh37] Chr4:4p16.1 |
likely pathogenic|uncertain significance |
NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter) | single nucleotide variant | Wolfram syndrome 1 [RCV003323276] | Chr4:6301633 [GRCh38] Chr4:6303360 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1756G>A (p.Ala586Thr) | single nucleotide variant | not provided [RCV003325164] | Chr4:6301551 [GRCh38] Chr4:6303278 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.460+1G>C | single nucleotide variant | Wolfram syndrome 1 [RCV003323321] | Chr4:6289132 [GRCh38] Chr4:6290859 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys) | single nucleotide variant | Wolfram syndrome 1 [RCV003322585] | Chr4:6301801 [GRCh38] Chr4:6303528 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) | copy number gain | 4p16.3 microduplication syndrome [RCV003319592] | Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_006005.3(WFS1):c.2311G>A (p.Asp771Asn) | single nucleotide variant | not provided [RCV003321261] | Chr4:6302106 [GRCh38] Chr4:6303833 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 | copy number gain | Neurodevelopmental disorder [RCV003327612] | Chr4:2904667..42963232 [GRCh38] Chr4:4p16.3-13 |
pathogenic |
NM_006005.3(WFS1):c.1385A>C (p.Glu462Ala) | single nucleotide variant | not provided [RCV003328916] | Chr4:6301180 [GRCh38] Chr4:6302907 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser) | single nucleotide variant | Autosomal dominant nonsyndromic hearing loss 6 [RCV003326218] | Chr4:6301840 [GRCh38] Chr4:6303567 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 | copy number gain | Neurodevelopmental disorder [RCV003327611] | Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11 |
pathogenic |
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 | copy number gain | Neurodevelopmental disorder [RCV003327613] | Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12 |
pathogenic |
NM_006005.3(WFS1):c.805G>A (p.Glu269Lys) | single nucleotide variant | not provided [RCV003328770] | Chr4:6295133 [GRCh38] Chr4:6296860 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1929C>G (p.Ile643Met) | single nucleotide variant | Diabetes [RCV003334455] | Chr4:6301724 [GRCh38] Chr4:6303451 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 | copy number loss | not provided [RCV003334269] | Chr4:85622..16900108 [GRCh37] Chr4:4p16.3-15.32 |
pathogenic |
NM_006005.3(WFS1):c.2032T>A (p.Trp678Arg) | single nucleotide variant | not provided [RCV003332547] | Chr4:6301827 [GRCh38] Chr4:6303554 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1213T>C (p.Tyr405His) | single nucleotide variant | not provided [RCV003332503] | Chr4:6301008 [GRCh38] Chr4:6302735 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.857T>C (p.Leu286Pro) | single nucleotide variant | WFS1-related disorder [RCV004531742] | Chr4:6295185 [GRCh38] Chr4:6296912 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.623A>C (p.Asn208Thr) | single nucleotide variant | not provided [RCV003457415] | Chr4:6291359 [GRCh38] Chr4:6293086 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2165T>C (p.Met722Thr) | single nucleotide variant | Inborn genetic diseases [RCV003378346]|not provided [RCV003699076] | Chr4:6301960 [GRCh38] Chr4:6303687 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2123G>T (p.Arg708Leu) | single nucleotide variant | Auditory neuropathy [RCV003484467] | Chr4:6301918 [GRCh38] Chr4:6303645 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.478G>A (p.Glu160Lys) | single nucleotide variant | WFS1-related disorder [RCV004542311]|not provided [RCV003873624] | Chr4:6291214 [GRCh38] Chr4:6292941 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2627A>G (p.Lys876Arg) | single nucleotide variant | not provided [RCV003570394] | Chr4:6302422 [GRCh38] Chr4:6304149 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.836C>T (p.Pro279Leu) | single nucleotide variant | not provided [RCV003543292] | Chr4:6295164 [GRCh38] Chr4:6296891 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2394C>T (p.Val798=) | single nucleotide variant | not provided [RCV003571828] | Chr4:6302189 [GRCh38] Chr4:6303916 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.130C>T (p.Pro44Ser) | single nucleotide variant | not provided [RCV003686427] | Chr4:6277585 [GRCh38] Chr4:6279312 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.713-1G>T | single nucleotide variant | not provided [RCV003571037] | Chr4:6295040 [GRCh38] Chr4:6296767 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.218G>T (p.Arg73Ile) | single nucleotide variant | not provided [RCV003571206] | Chr4:6277673 [GRCh38] Chr4:6279400 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 | copy number gain | not provided [RCV003484164] | Chr4:68346..7171784 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
NM_006005.3(WFS1):c.1826T>A (p.Leu609Gln) | single nucleotide variant | WFS1-related disorder [RCV004536735] | Chr4:6301621 [GRCh38] Chr4:6303348 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1565G>T (p.Arg522Met) | single nucleotide variant | WFS1-related disorder [RCV004529662] | Chr4:6301360 [GRCh38] Chr4:6303087 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2645T>G (p.Phe882Cys) | single nucleotide variant | Auditory neuropathy [RCV003484490] | Chr4:6302440 [GRCh38] Chr4:6304167 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.233-4197T>C | single nucleotide variant | not provided [RCV003439232] | Chr4:6282896 [GRCh38] Chr4:6284623 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.596A>G (p.Glu199Gly) | single nucleotide variant | WFS1-related disorder [RCV004528056] | Chr4:6291332 [GRCh38] Chr4:6293059 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1660C>G (p.Leu554Val) | single nucleotide variant | not provided [RCV003443451] | Chr4:6301455 [GRCh38] Chr4:6303182 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2202C>G (p.Leu734=) | single nucleotide variant | not provided [RCV003434957] | Chr4:6301997 [GRCh38] Chr4:6303724 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1439A>G (p.Tyr480Cys) | single nucleotide variant | WFS1-related disorder [RCV004529764]|Wolfram syndrome 1 [RCV003445235] | Chr4:6301234 [GRCh38] Chr4:6302961 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2098T>A (p.Trp700Arg) | single nucleotide variant | not specified [RCV003404932] | Chr4:6301893 [GRCh38] Chr4:6303620 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1630T>A (p.Ser544Thr) | single nucleotide variant | not provided [RCV003699103]|not specified [RCV003405120] | Chr4:6301425 [GRCh38] Chr4:6303152 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2614_2625del (p.His872_Val875del) | deletion | WFS1-related disorder [RCV004528674] | Chr4:6302404..6302415 [GRCh38] Chr4:6304131..6304142 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.683_684delinsTG (p.Arg228Leu) | indel | WFS1-related disorder [RCV004529347] | Chr4:6291968..6291969 [GRCh38] Chr4:6293695..6293696 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2083G>A (p.Gly695Ser) | single nucleotide variant | WFS1-related disorder [RCV004539026] | Chr4:6301878 [GRCh38] Chr4:6303605 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1536_1549dup (p.Arg517fs) | duplication | WFS1-related disorder [RCV004528017] | Chr4:6301330..6301331 [GRCh38] Chr4:6303057..6303058 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1934T>C (p.Leu645Pro) | single nucleotide variant | not provided [RCV003457416] | Chr4:6301729 [GRCh38] Chr4:6303456 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.973A>G (p.Asn325Asp) | single nucleotide variant | WFS1-related disorder [RCV004534324] | Chr4:6300768 [GRCh38] Chr4:6302495 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1012A>C (p.Ile338Leu) | single nucleotide variant | WFS1-related disorder [RCV004536687] | Chr4:6300807 [GRCh38] Chr4:6302534 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1562T>G (p.Leu521Arg) | single nucleotide variant | not provided [RCV003439233] | Chr4:6301357 [GRCh38] Chr4:6303084 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1804G>A (p.Ala602Thr) | single nucleotide variant | not provided [RCV003439234] | Chr4:6301599 [GRCh38] Chr4:6303326 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1611C>T (p.Cys537=) | single nucleotide variant | not provided [RCV003686763] | Chr4:6301406 [GRCh38] Chr4:6303133 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1851C>A (p.Ser617Arg) | single nucleotide variant | not provided [RCV003696600] | Chr4:6301646 [GRCh38] Chr4:6303373 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2427G>A (p.Glu809=) | single nucleotide variant | not provided [RCV003660320] | Chr4:6302222 [GRCh38] Chr4:6303949 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.29C>T (p.Pro10Leu) | single nucleotide variant | not provided [RCV003849060] | Chr4:6277484 [GRCh38] Chr4:6279211 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1713C>T (p.Pro571=) | single nucleotide variant | not provided [RCV003828482] | Chr4:6301508 [GRCh38] Chr4:6303235 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.662A>G (p.Lys221Arg) | single nucleotide variant | not provided [RCV003740245] | Chr4:6291947 [GRCh38] Chr4:6293674 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.268G>T (p.Glu90Ter) | single nucleotide variant | not provided [RCV003576564] | Chr4:6287128 [GRCh38] Chr4:6288855 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1404A>G (p.Leu468=) | single nucleotide variant | not provided [RCV003696655] | Chr4:6301199 [GRCh38] Chr4:6302926 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1883C>G (p.Thr628Arg) | single nucleotide variant | not provided [RCV003849103] | Chr4:6301678 [GRCh38] Chr4:6303405 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1410G>C (p.Leu470=) | single nucleotide variant | not provided [RCV003831539] | Chr4:6301205 [GRCh38] Chr4:6302932 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2552_2553dup (p.Ala852fs) | duplication | not provided [RCV003689607] | Chr4:6302346..6302347 [GRCh38] Chr4:6304073..6304074 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1479C>A (p.Val493=) | single nucleotide variant | not provided [RCV003693806] | Chr4:6301274 [GRCh38] Chr4:6303001 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2623G>T (p.Val875Leu) | single nucleotide variant | not provided [RCV003545146] | Chr4:6302418 [GRCh38] Chr4:6304145 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.789G>T (p.Leu263=) | single nucleotide variant | not provided [RCV003691335] | Chr4:6295117 [GRCh38] Chr4:6296844 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1784C>G (p.Thr595Ser) | single nucleotide variant | not provided [RCV003572611] | Chr4:6301579 [GRCh38] Chr4:6303306 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.828G>T (p.Gly276=) | single nucleotide variant | not provided [RCV003713547] | Chr4:6295156 [GRCh38] Chr4:6296883 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1313dup (p.Phe439fs) | duplication | not provided [RCV003739324] | Chr4:6301106..6301107 [GRCh38] Chr4:6302833..6302834 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1708C>G (p.Leu570Val) | single nucleotide variant | not provided [RCV003545080] | Chr4:6301503 [GRCh38] Chr4:6303230 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2649del (p.Phe884fs) | deletion | not provided [RCV003553890] | Chr4:6302444 [GRCh38] Chr4:6304171 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1628T>C (p.Leu543Pro) | single nucleotide variant | not provided [RCV003687725] | Chr4:6301423 [GRCh38] Chr4:6303150 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1948T>G (p.Tyr650Asp) | single nucleotide variant | not provided [RCV003660047] | Chr4:6301743 [GRCh38] Chr4:6303470 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.735T>A (p.Asp245Glu) | single nucleotide variant | not provided [RCV003694781] | Chr4:6295063 [GRCh38] Chr4:6296790 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1316T>A (p.Phe439Tyr) | single nucleotide variant | not provided [RCV003696129] | Chr4:6301111 [GRCh38] Chr4:6302838 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2536_2539dup (p.Cys847Ter) | duplication | not provided [RCV003577178] | Chr4:6302330..6302331 [GRCh38] Chr4:6304057..6304058 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2339G>T (p.Gly780Val) | single nucleotide variant | not provided [RCV003576832] | Chr4:6302134 [GRCh38] Chr4:6303861 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.439C>T (p.Arg147Trp) | single nucleotide variant | not provided [RCV003573596] | Chr4:6289110 [GRCh38] Chr4:6290837 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1561C>G (p.Leu521Val) | single nucleotide variant | not provided [RCV003573624] | Chr4:6301356 [GRCh38] Chr4:6303083 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2142C>G (p.Asn714Lys) | single nucleotide variant | not provided [RCV003686565] | Chr4:6301937 [GRCh38] Chr4:6303664 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.232+15T>A | single nucleotide variant | not provided [RCV003694632] | Chr4:6277702 [GRCh38] Chr4:6279429 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2538C>T (p.Ser846=) | single nucleotide variant | not provided [RCV003714572] | Chr4:6302333 [GRCh38] Chr4:6304060 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2567C>G (p.Pro856Arg) | single nucleotide variant | not provided [RCV003695650] | Chr4:6302362 [GRCh38] Chr4:6304089 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2593C>T (p.His865Tyr) | single nucleotide variant | not provided [RCV003739837] | Chr4:6302388 [GRCh38] Chr4:6304115 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2178C>T (p.Phe726=) | single nucleotide variant | not provided [RCV003691641] | Chr4:6301973 [GRCh38] Chr4:6303700 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1529A>G (p.Tyr510Cys) | single nucleotide variant | not provided [RCV003575222] | Chr4:6301324 [GRCh38] Chr4:6303051 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2511G>T (p.Trp837Cys) | single nucleotide variant | not specified [RCV003494281] | Chr4:6302306 [GRCh38] Chr4:6304033 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1596G>A (p.Val532=) | single nucleotide variant | not provided [RCV003660334] | Chr4:6301391 [GRCh38] Chr4:6303118 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1088dup (p.Val364fs) | duplication | not provided [RCV003663395] | Chr4:6300881..6300882 [GRCh38] Chr4:6302608..6302609 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.887T>C (p.Ile296Thr) | single nucleotide variant | not provided [RCV003661771] | Chr4:6300682 [GRCh38] Chr4:6302409 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1387G>T (p.Val463Phe) | single nucleotide variant | not provided [RCV003664476] | Chr4:6301182 [GRCh38] Chr4:6302909 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1513T>G (p.Cys505Gly) | single nucleotide variant | not provided [RCV003550240] | Chr4:6301308 [GRCh38] Chr4:6303035 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2589C>A (p.Ile863=) | single nucleotide variant | not provided [RCV003663769] | Chr4:6302384 [GRCh38] Chr4:6304111 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.824C>T (p.Ala275Val) | single nucleotide variant | not provided [RCV003717379] | Chr4:6295152 [GRCh38] Chr4:6296879 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2142C>T (p.Asn714=) | single nucleotide variant | not provided [RCV003562198] | Chr4:6301937 [GRCh38] Chr4:6303664 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1251C>T (p.Phe417=) | single nucleotide variant | not provided [RCV003726064] | Chr4:6301046 [GRCh38] Chr4:6302773 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2303A>G (p.Lys768Arg) | single nucleotide variant | not provided [RCV003561461] | Chr4:6302098 [GRCh38] Chr4:6303825 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.882C>A (p.His294Gln) | single nucleotide variant | not provided [RCV003834114] | Chr4:6300677 [GRCh38] Chr4:6302404 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1325C>T (p.Thr442Ile) | single nucleotide variant | not provided [RCV003670426] | Chr4:6301120 [GRCh38] Chr4:6302847 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1868T>G (p.Met623Arg) | single nucleotide variant | not provided [RCV003700666] | Chr4:6301663 [GRCh38] Chr4:6303390 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1786A>C (p.Lys596Gln) | single nucleotide variant | not provided [RCV003838678] | Chr4:6301581 [GRCh38] Chr4:6303308 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2080_2105del (p.Glu694fs) | deletion | not provided [RCV003725366] | Chr4:6301874..6301899 [GRCh38] Chr4:6303601..6303626 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.894G>A (p.Glu298=) | single nucleotide variant | WFS1-related disorder [RCV004539072]|not provided [RCV003702633] | Chr4:6300689 [GRCh38] Chr4:6302416 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1078T>C (p.Cys360Arg) | single nucleotide variant | not provided [RCV003669988] | Chr4:6300873 [GRCh38] Chr4:6302600 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2218C>T (p.Pro740Ser) | single nucleotide variant | not provided [RCV003579676] | Chr4:6302013 [GRCh38] Chr4:6303740 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.880C>G (p.His294Asp) | single nucleotide variant | not provided [RCV003557475] | Chr4:6300675 [GRCh38] Chr4:6302402 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.105G>T (p.Gln35His) | single nucleotide variant | not provided [RCV003557772] | Chr4:6277560 [GRCh38] Chr4:6279287 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1846G>C (p.Ala616Pro) | single nucleotide variant | not provided [RCV003672922] | Chr4:6301641 [GRCh38] Chr4:6303368 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.517G>C (p.Glu173Gln) | single nucleotide variant | not provided [RCV003702660] | Chr4:6291253 [GRCh38] Chr4:6292980 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2649C>G (p.Phe883Leu) | single nucleotide variant | not provided [RCV003702587] | Chr4:6302444 [GRCh38] Chr4:6304171 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2437G>T (p.Val813Leu) | single nucleotide variant | not provided [RCV003816836] | Chr4:6302232 [GRCh38] Chr4:6303959 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+8G>C | single nucleotide variant | not provided [RCV003723361] | Chr4:6291375 [GRCh38] Chr4:6293102 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.745G>A (p.Glu249Lys) | single nucleotide variant | not provided [RCV003700280] | Chr4:6295073 [GRCh38] Chr4:6296800 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2235C>T (p.Gly745=) | single nucleotide variant | not provided [RCV003697560] | Chr4:6302030 [GRCh38] Chr4:6303757 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.757A>T (p.Lys253Ter) | single nucleotide variant | not provided [RCV003724213] | Chr4:6295085 [GRCh38] Chr4:6296812 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2383G>A (p.Glu795Lys) | single nucleotide variant | not provided [RCV003838195] | Chr4:6302178 [GRCh38] Chr4:6303905 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.327C>T (p.His109=) | single nucleotide variant | not provided [RCV003548223] | Chr4:6288998 [GRCh38] Chr4:6290725 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1859T>G (p.Val620Gly) | single nucleotide variant | not provided [RCV003815842] | Chr4:6301654 [GRCh38] Chr4:6303381 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.315+20C>T | single nucleotide variant | not provided [RCV003833253] | Chr4:6287195 [GRCh38] Chr4:6288922 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2502C>T (p.Gly834=) | single nucleotide variant | not provided [RCV003672616] | Chr4:6302297 [GRCh38] Chr4:6304024 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2449C>G (p.Leu817Val) | single nucleotide variant | not provided [RCV003557914] | Chr4:6302244 [GRCh38] Chr4:6303971 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.903G>C (p.Glu301Asp) | single nucleotide variant | not provided [RCV003668659] | Chr4:6300698 [GRCh38] Chr4:6302425 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2103del (p.Gly702fs) | deletion | not provided [RCV003557931] | Chr4:6301897 [GRCh38] Chr4:6303624 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1738G>C (p.Val580Leu) | single nucleotide variant | not provided [RCV003667170] | Chr4:6301533 [GRCh38] Chr4:6303260 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1344C>T (p.Ser448=) | single nucleotide variant | not provided [RCV003559616] | Chr4:6301139 [GRCh38] Chr4:6302866 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2256G>T (p.Glu752Asp) | single nucleotide variant | not provided [RCV003711984] | Chr4:6302051 [GRCh38] Chr4:6303778 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.994_996dup (p.Ile332_Val333insIle) | duplication | not provided [RCV003565042] | Chr4:6300786..6300787 [GRCh38] Chr4:6302513..6302514 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.467C>T (p.Thr156Met) | single nucleotide variant | not provided [RCV003555140] | Chr4:6291203 [GRCh38] Chr4:6292930 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp) | single nucleotide variant | Wolfram syndrome 1 [RCV003992778]|not provided [RCV003555141] | Chr4:6301471 [GRCh38] Chr4:6303198 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1705_1706delinsAG (p.Ala569Ser) | indel | not provided [RCV003555142] | Chr4:6301500..6301501 [GRCh38] Chr4:6303227..6303228 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2048T>G (p.Met683Arg) | single nucleotide variant | not provided [RCV003555143] | Chr4:6301843 [GRCh38] Chr4:6303570 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs) | insertion | not provided [RCV003555146] | Chr4:6302109..6302110 [GRCh38] Chr4:6303836..6303837 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1655C>G (p.Thr552Ser) | single nucleotide variant | not provided [RCV003711264] | Chr4:6301450 [GRCh38] Chr4:6303177 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1400T>G (p.Leu467Arg) | single nucleotide variant | not provided [RCV003567960] | Chr4:6301195 [GRCh38] Chr4:6302922 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1502T>A (p.Val501Asp) | single nucleotide variant | not provided [RCV003682961] | Chr4:6301297 [GRCh38] Chr4:6303024 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1587C>G (p.Cys529Trp) | single nucleotide variant | not provided [RCV003678686] | Chr4:6301382 [GRCh38] Chr4:6303109 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.427A>G (p.Lys143Glu) | single nucleotide variant | not provided [RCV003678797] | Chr4:6289098 [GRCh38] Chr4:6290825 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2546A>C (p.Asn849Thr) | single nucleotide variant | not provided [RCV003682986] | Chr4:6302341 [GRCh38] Chr4:6304068 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.862-13A>G | single nucleotide variant | not provided [RCV003736194] | Chr4:6300644 [GRCh38] Chr4:6302371 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2545A>G (p.Asn849Asp) | single nucleotide variant | not provided [RCV003729786] | Chr4:6302340 [GRCh38] Chr4:6304067 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1713C>G (p.Pro571=) | single nucleotide variant | not provided [RCV003554723] | Chr4:6301508 [GRCh38] Chr4:6303235 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1228C>T (p.Leu410Phe) | single nucleotide variant | not provided [RCV003858020] | Chr4:6301023 [GRCh38] Chr4:6302750 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.21G>A (p.Pro7=) | single nucleotide variant | not provided [RCV003730806] | Chr4:6277476 [GRCh38] Chr4:6279203 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.483G>T (p.Arg161=) | single nucleotide variant | not provided [RCV003680226] | Chr4:6291219 [GRCh38] Chr4:6292946 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1926C>T (p.Ala642=) | single nucleotide variant | not provided [RCV003729456] | Chr4:6301721 [GRCh38] Chr4:6303448 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1367G>T (p.Arg456Leu) | single nucleotide variant | not provided [RCV003857070] | Chr4:6301162 [GRCh38] Chr4:6302889 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1546T>C (p.Phe516Leu) | single nucleotide variant | not provided [RCV003675090] | Chr4:6301341 [GRCh38] Chr4:6303068 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1608G>A (p.Val536=) | single nucleotide variant | not provided [RCV003553716] | Chr4:6301403 [GRCh38] Chr4:6303130 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1574A>G (p.Lys525Arg) | single nucleotide variant | not provided [RCV003677741] | Chr4:6301369 [GRCh38] Chr4:6303096 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.125G>T (p.Arg42Leu) | single nucleotide variant | not provided [RCV003841645] | Chr4:6277580 [GRCh38] Chr4:6279307 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.57_64dup (p.Gln22fs) | duplication | not provided [RCV003679609] | Chr4:6277509..6277510 [GRCh38] Chr4:6279236..6279237 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1872G>A (p.Val624=) | single nucleotide variant | not provided [RCV003563250] | Chr4:6301667 [GRCh38] Chr4:6303394 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2533A>T (p.Ile845Phe) | single nucleotide variant | not provided [RCV003553356] | Chr4:6302328 [GRCh38] Chr4:6304055 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2100G>C (p.Trp700Cys) | single nucleotide variant | not provided [RCV003865155] | Chr4:6301895 [GRCh38] Chr4:6303622 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.925A>C (p.Arg309=) | single nucleotide variant | not provided [RCV003737180] | Chr4:6300720 [GRCh38] Chr4:6302447 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.476A>G (p.Asn159Ser) | single nucleotide variant | WFS1-related disorder [RCV004532242] | Chr4:6291212 [GRCh38] Chr4:6292939 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1110C>G (p.Ala370=) | single nucleotide variant | not provided [RCV003719360] | Chr4:6300905 [GRCh38] Chr4:6302632 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2585_2587del (p.Lys862del) | deletion | not provided [RCV003682819] | Chr4:6302378..6302380 [GRCh38] Chr4:6304105..6304107 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1856C>T (p.Ser619Phe) | single nucleotide variant | not provided [RCV003677478] | Chr4:6301651 [GRCh38] Chr4:6303378 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1394C>G (p.Ala465Gly) | single nucleotide variant | not provided [RCV003677384] | Chr4:6301189 [GRCh38] Chr4:6302916 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2057C>T (p.Thr686Ile) | single nucleotide variant | not provided [RCV003867927] | Chr4:6301852 [GRCh38] Chr4:6303579 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2273A>T (p.Lys758Met) | single nucleotide variant | not provided [RCV003868094] | Chr4:6302068 [GRCh38] Chr4:6303795 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1699_1704dup (p.Phe568_Ala569insLeuPhe) | duplication | not provided [RCV003684810] | Chr4:6301493..6301494 [GRCh38] Chr4:6303220..6303221 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 | copy number loss | not specified [RCV003986488] | Chr4:68345..21143236 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_006005.3(WFS1):c.2288A>G (p.His763Arg) | single nucleotide variant | not provided [RCV003866557] | Chr4:6302083 [GRCh38] Chr4:6303810 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 | copy number loss | not specified [RCV003986512] | Chr4:68345..19103550 [GRCh37] Chr4:4p16.3-15.31 |
pathogenic |
NM_006005.3(WFS1):c.1787A>G (p.Lys596Arg) | single nucleotide variant | not provided [RCV003872004] | Chr4:6301582 [GRCh38] Chr4:6303309 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+22_631+38del | deletion | not provided [RCV003555161] | Chr4:6291381..6291397 [GRCh38] Chr4:6293108..6293124 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2206G>C (p.Gly736Arg) | single nucleotide variant | not provided [RCV003555145] | Chr4:6302001 [GRCh38] Chr4:6303728 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1333CTGAGC[1] (p.445LS[1]) | microsatellite | not provided [RCV003681807] | Chr4:6301127..6301132 [GRCh38] Chr4:6302854..6302859 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.147CCCTGG[3] (p.Gly53_Val54insProGly) | microsatellite | not provided [RCV003732749] | Chr4:6277597..6277598 [GRCh38] Chr4:6279324..6279325 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.960C>T (p.Pro320=) | single nucleotide variant | not provided [RCV003557191] | Chr4:6300755 [GRCh38] Chr4:6302482 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.285C>A (p.Ala95=) | single nucleotide variant | not provided [RCV003868261] | Chr4:6287145 [GRCh38] Chr4:6288872 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.*9C>T | single nucleotide variant | WFS1-related disorder [RCV004532146] | Chr4:6302477 [GRCh38] Chr4:6304204 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.906C>T (p.Tyr302=) | single nucleotide variant | WFS1-related disorder [RCV004534521] | Chr4:6300701 [GRCh38] Chr4:6302428 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1148G>C (p.Arg383Pro) | single nucleotide variant | not provided [RCV003684031] | Chr4:6300943 [GRCh38] Chr4:6302670 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1938C>T (p.Phe646=) | single nucleotide variant | not provided [RCV003719763] | Chr4:6301733 [GRCh38] Chr4:6303460 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2249C>T (p.Ala750Val) | single nucleotide variant | not provided [RCV003721551] | Chr4:6302044 [GRCh38] Chr4:6303771 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 | copy number loss | not specified [RCV003986500] | Chr4:68345..7923907 [GRCh37] Chr4:4p16.3-16.1 |
pathogenic |
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 | copy number loss | not specified [RCV003986510] | Chr4:68345..14083766 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_006005.3(WFS1):c.1101C>G (p.Asp367Glu) | single nucleotide variant | not provided [RCV003721829] | Chr4:6300896 [GRCh38] Chr4:6302623 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1014C>A (p.Ile338=) | single nucleotide variant | not provided [RCV003727246] | Chr4:6300809 [GRCh38] Chr4:6302536 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.124C>G (p.Arg42Gly) | single nucleotide variant | not provided [RCV003723244] | Chr4:6277579 [GRCh38] Chr4:6279306 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2275C>T (p.Leu759=) | single nucleotide variant | not provided [RCV003861837] | Chr4:6302070 [GRCh38] Chr4:6303797 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.122C>A (p.Pro41His) | single nucleotide variant | not provided [RCV003722053] | Chr4:6277577 [GRCh38] Chr4:6279304 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1657G>T (p.Gly553Cys) | single nucleotide variant | not provided [RCV003554798] | Chr4:6301452 [GRCh38] Chr4:6303179 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.960del (p.Thr321fs) | deletion | not provided [RCV003684625] | Chr4:6300752 [GRCh38] Chr4:6302479 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2195_2217dup (p.Pro740fs) | duplication | not provided [RCV003551005] | Chr4:6301988..6301989 [GRCh38] Chr4:6303715..6303716 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.2652C>G (p.Phe884Leu) | single nucleotide variant | not provided [RCV003681974] | Chr4:6302447 [GRCh38] Chr4:6304174 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2013G>T (p.Ala671=) | single nucleotide variant | not provided [RCV003736405] | Chr4:6301808 [GRCh38] Chr4:6303535 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.461-18C>G | single nucleotide variant | not provided [RCV003853254] | Chr4:6291179 [GRCh38] Chr4:6292906 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.57G>C (p.Pro19=) | single nucleotide variant | not provided [RCV003736444] | Chr4:6277512 [GRCh38] Chr4:6279239 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2084G>A (p.Gly695Asp) | single nucleotide variant | not provided [RCV003675715] | Chr4:6301879 [GRCh38] Chr4:6303606 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2339G>A (p.Gly780Asp) | single nucleotide variant | not provided [RCV003565958] | Chr4:6302134 [GRCh38] Chr4:6303861 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2144G>A (p.Ser715Asn) | single nucleotide variant | not provided [RCV003681328] | Chr4:6301939 [GRCh38] Chr4:6303666 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.631+3G>A | single nucleotide variant | not provided [RCV003729501] | Chr4:6291370 [GRCh38] Chr4:6293097 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.702C>T (p.Val234=) | single nucleotide variant | not provided [RCV003735703] | Chr4:6291987 [GRCh38] Chr4:6293714 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1686C>G (p.Gly562=) | single nucleotide variant | not provided [RCV003860716] | Chr4:6301481 [GRCh38] Chr4:6303208 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.631+20G>A | single nucleotide variant | not provided [RCV003676044] | Chr4:6291387 [GRCh38] Chr4:6293114 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2368_2391del (p.Ser790_Asp797del) | deletion | not provided [RCV003683052] | Chr4:6302162..6302185 [GRCh38] Chr4:6303889..6303912 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.273C>T (p.Val91=) | single nucleotide variant | not provided [RCV003706390] | Chr4:6287133 [GRCh38] Chr4:6288860 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.2121C>A (p.Val707=) | single nucleotide variant | not provided [RCV003551554] | Chr4:6301916 [GRCh38] Chr4:6303643 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.573G>T (p.Lys191Asn) | single nucleotide variant | not provided [RCV003709496] | Chr4:6291309 [GRCh38] Chr4:6293036 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1831C>G (p.Arg611Gly) | single nucleotide variant | not provided [RCV003706585] | Chr4:6301626 [GRCh38] Chr4:6303353 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2589C>G (p.Ile863Met) | single nucleotide variant | not provided [RCV003553347] | Chr4:6302384 [GRCh38] Chr4:6304111 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1719G>A (p.Leu573=) | single nucleotide variant | not provided [RCV003680253] | Chr4:6301514 [GRCh38] Chr4:6303241 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1608G>C (p.Val536=) | single nucleotide variant | not provided [RCV003678509] | Chr4:6301403 [GRCh38] Chr4:6303130 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.58C>T (p.Gln20Ter) | single nucleotide variant | not provided [RCV003819796] | Chr4:6277513 [GRCh38] Chr4:6279240 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.708C>T (p.Ser236=) | single nucleotide variant | not provided [RCV003729828] | Chr4:6291993 [GRCh38] Chr4:6293720 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.460+9G>A | single nucleotide variant | not provided [RCV003818702] | Chr4:6289140 [GRCh38] Chr4:6290867 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.180C>T (p.Pro60=) | single nucleotide variant | not provided [RCV003568161] | Chr4:6277635 [GRCh38] Chr4:6279362 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1182G>A (p.Glu394=) | single nucleotide variant | not provided [RCV003845147] | Chr4:6300977 [GRCh38] Chr4:6302704 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.958_961delinsTCC (p.Pro320fs) | indel | not provided [RCV003680618] | Chr4:6300753..6300756 [GRCh38] Chr4:6302480..6302483 [GRCh37] Chr4:4p16.1 |
pathogenic |
NM_006005.3(WFS1):c.1132A>T (p.Thr378Ser) | single nucleotide variant | not provided [RCV003822781] | Chr4:6300927 [GRCh38] Chr4:6302654 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2417C>T (p.Ala806Val) | single nucleotide variant | not provided [RCV003731516] | Chr4:6302212 [GRCh38] Chr4:6303939 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.2536A>G (p.Ser846Gly) | single nucleotide variant | not provided [RCV003734548] | Chr4:6302331 [GRCh38] Chr4:6304058 [GRCh37] Chr4:4p16.1 |
uncertain significance |
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 | copy number loss | not provided [RCV003885506] | Chr4:85622..13316942 [GRCh37] Chr4:4p16.3-15.33 |
pathogenic |
NM_006005.3(WFS1):c.1217C>A (p.Ala406Asp) | single nucleotide variant | WFS1-related disorder [RCV004544196] | Chr4:6301012 [GRCh38] Chr4:6302739 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.2033G>A (p.Trp678Ter) | single nucleotide variant | WFS1-related disorder [RCV004534460] | Chr4:6301828 [GRCh38] Chr4:6303555 [GRCh37] Chr4:4p16.1 |
pathogenic |
NC_000004.12:g.6269836T>A | single nucleotide variant | WFS1-related disorder [RCV004536977] | Chr4:6269836 [GRCh38] Chr4:6271563 [GRCh37] Chr4:4p16.1 |
likely benign |
NC_000004.12:g.6269848T>A | single nucleotide variant | WFS1-related disorder [RCV004536917] | Chr4:6269848 [GRCh38] Chr4:6271575 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.929C>T (p.Ala310Val) | single nucleotide variant | WFS1-related disorder [RCV004539217] | Chr4:6300724 [GRCh38] Chr4:6302451 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1218C>T (p.Ala406=) | single nucleotide variant | WFS1-related disorder [RCV004542324] | Chr4:6301013 [GRCh38] Chr4:6302740 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1975G>T (p.Val659Phe) | single nucleotide variant | Wolfram syndrome 1 [RCV003990824] | Chr4:6301770 [GRCh38] Chr4:6303497 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1118A>G (p.Asn373Ser) | single nucleotide variant | Inborn genetic diseases [RCV004482923] | Chr4:6300913 [GRCh38] Chr4:6302640 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1211C>G (p.Pro404Arg) | single nucleotide variant | Inborn genetic diseases [RCV004482924] | Chr4:6301006 [GRCh38] Chr4:6302733 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1104_1105insT (p.Lys369Ter) | insertion | Wolfram syndrome 1 [RCV004560392] | Chr4:6300899..6300900 [GRCh38] Chr4:6302626..6302627 [GRCh37] Chr4:4p16.1 |
likely pathogenic |
NM_006005.3(WFS1):c.1102A>G (p.Ser368Gly) | single nucleotide variant | Inborn genetic diseases [RCV004482922] | Chr4:6300897 [GRCh38] Chr4:6302624 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.1379C>T (p.Ala460Val) | single nucleotide variant | Inborn genetic diseases [RCV004482926] | Chr4:6301174 [GRCh38] Chr4:6302901 [GRCh37] Chr4:4p16.1 |
likely benign |
NM_006005.3(WFS1):c.1793C>T (p.Ala598Val) | single nucleotide variant | Inborn genetic diseases [RCV004482928] | Chr4:6301588 [GRCh38] Chr4:6303315 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.44C>A (p.Pro15His) | single nucleotide variant | Inborn genetic diseases [RCV004482929] | Chr4:6277499 [GRCh38] Chr4:6279226 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NM_006005.3(WFS1):c.886A>G (p.Ile296Val) | single nucleotide variant | Inborn genetic diseases [RCV004482930] | Chr4:6300681 [GRCh38] Chr4:6302408 [GRCh37] Chr4:4p16.1 |
uncertain significance |
NC_000004.11:g.(?_2357152)_(15176083_?)del | deletion | not provided [RCV004580846] | Chr4:2357152..15176083 [GRCh37] | pathogenic |
NC_000004.11:g.(?_6288800)_(6304195_?)del | deletion | not provided [RCV004580848] | Chr4:6288800..6304195 [GRCh37] | pathogenic |
NC_000004.11:g.(?_6288800)_(6293114_?)del | deletion | not provided [RCV004580847] | Chr4:6288800..6293114 [GRCh37] | pathogenic |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D4S3023 |
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D4S3007 |
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SHGC-59709 |
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D4S126 |
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G01790 |
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WI-21965 |
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WFS1__4904 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2403 | 2173 | 1514 | 409 | 555 | 259 | 4117 | 1896 | 3627 | 322 | 1456 | 1582 | 166 | 1 | 1204 | 2552 | 6 | 2 |
Low | 36 | 670 | 211 | 215 | 1177 | 206 | 240 | 298 | 106 | 97 | 4 | 30 | 9 | 236 | ||||
Below cutoff | 148 | 1 | 185 | 1 | 1 | 1 |
RefSeq Transcripts | NG_011700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001145853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_006005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB839160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB839161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC116317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF084481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC030130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC069213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC890796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP744537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KR014943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KR014944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KR014945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MT832010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MT832011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MT832012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MT832013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MT832014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y18064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000226760 ⟹ ENSP00000226760 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000503569 ⟹ ENSP00000423337 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000506362 ⟹ ENSP00000424103 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000506588 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000507765 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000513395 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000673642 ⟹ ENSP00000501242 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000673991 ⟹ ENSP00000501033 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000674051 ⟹ ENSP00000501083 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000682059 ⟹ ENSP00000507988 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000682275 ⟹ ENSP00000507852 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000683395 ⟹ ENSP00000507124 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000684054 ⟹ ENSP00000507120 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000684087 ⟹ ENSP00000506978 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000684700 ⟹ ENSP00000507806 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001145853 ⟹ NP_001139325 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_006005 ⟹ NP_005996 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001139325 | (Get FASTA) | NCBI Sequence Viewer |
NP_005996 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC64943 | (Get FASTA) | NCBI Sequence Viewer |
AAH30130 | (Get FASTA) | NCBI Sequence Viewer | |
AGX00084 | (Get FASTA) | NCBI Sequence Viewer | |
AKA98155 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33853 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ33854 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35744 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58761 | (Get FASTA) | NCBI Sequence Viewer | |
CAA77022 | (Get FASTA) | NCBI Sequence Viewer | |
EAW82396 | (Get FASTA) | NCBI Sequence Viewer | |
EAW82397 | (Get FASTA) | NCBI Sequence Viewer | |
EAW82398 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000226760 | ||
ENSP00000226760.1 | |||
ENSP00000423337 | |||
ENSP00000423337.1 | |||
ENSP00000424103.2 | |||
ENSP00000501033.1 | |||
ENSP00000501083.1 | |||
ENSP00000501242.1 | |||
ENSP00000506978.1 | |||
ENSP00000507120.1 | |||
ENSP00000507124.1 | |||
ENSP00000507806.1 | |||
ENSP00000507852.1 | |||
ENSP00000507988.1 | |||
GenBank Protein | O76024 | (Get FASTA) | NCBI Sequence Viewer |
QVH36320 | (Get FASTA) | NCBI Sequence Viewer | |
QVH36321 | (Get FASTA) | NCBI Sequence Viewer | |
QVH36322 | (Get FASTA) | NCBI Sequence Viewer | |
QVH36323 | (Get FASTA) | NCBI Sequence Viewer | |
QVH36324 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005996 ⟸ NM_006005 |
- UniProtKB: | Q8N6I3 (UniProtKB/Swiss-Prot), D3DVT1 (UniProtKB/Swiss-Prot), B2R797 (UniProtKB/Swiss-Prot), Q9UNW6 (UniProtKB/Swiss-Prot), O76024 (UniProtKB/Swiss-Prot), A0A0S2Z4V6 (UniProtKB/TrEMBL), A0A669KAX3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001139325 ⟸ NM_001145853 |
- UniProtKB: | Q8N6I3 (UniProtKB/Swiss-Prot), D3DVT1 (UniProtKB/Swiss-Prot), B2R797 (UniProtKB/Swiss-Prot), Q9UNW6 (UniProtKB/Swiss-Prot), O76024 (UniProtKB/Swiss-Prot), A0A0S2Z4V6 (UniProtKB/TrEMBL), A0A669KAX3 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000501242 ⟸ ENST00000673642 |
Ensembl Acc Id: | ENSP00000501033 ⟸ ENST00000673991 |
Ensembl Acc Id: | ENSP00000423337 ⟸ ENST00000503569 |
Ensembl Acc Id: | ENSP00000501083 ⟸ ENST00000674051 |
Ensembl Acc Id: | ENSP00000424103 ⟸ ENST00000506362 |
Ensembl Acc Id: | ENSP00000226760 ⟸ ENST00000226760 |
Ensembl Acc Id: | ENSP00000507124 ⟸ ENST00000683395 |
Ensembl Acc Id: | ENSP00000507852 ⟸ ENST00000682275 |
Ensembl Acc Id: | ENSP00000507120 ⟸ ENST00000684054 |
Ensembl Acc Id: | ENSP00000507988 ⟸ ENST00000682059 |
Ensembl Acc Id: | ENSP00000506978 ⟸ ENST00000684087 |
Ensembl Acc Id: | ENSP00000507806 ⟸ ENST00000684700 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O76024-F1-model_v2 | AlphaFold | O76024 | 1-890 | view protein structure |
RGD ID: | 6866968 | ||||||||
Promoter ID: | EPDNEW_H6649 | ||||||||
Type: | initiation region | ||||||||
Name: | WFS1_1 | ||||||||
Description: | wolframin ER transmembrane glycoprotein | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6802763 | ||||||||
Promoter ID: | HG_KWN:47786 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid | ||||||||
Transcripts: | ENST00000226760, UC003GIY.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:12762 | AgrOrtholog |
COSMIC | WFS1 | COSMIC |
Ensembl Genes | ENSG00000109501 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000226760 | ENTREZGENE |
ENST00000226760.5 | UniProtKB/Swiss-Prot | |
ENST00000503569 | ENTREZGENE | |
ENST00000503569.5 | UniProtKB/Swiss-Prot | |
ENST00000506362.2 | UniProtKB/TrEMBL | |
ENST00000673642.1 | UniProtKB/TrEMBL | |
ENST00000673991.1 | UniProtKB/TrEMBL | |
ENST00000674051.1 | UniProtKB/TrEMBL | |
ENST00000682059.1 | UniProtKB/TrEMBL | |
ENST00000682275.1 | UniProtKB/TrEMBL | |
ENST00000683395.1 | UniProtKB/TrEMBL | |
ENST00000684054.1 | UniProtKB/TrEMBL | |
ENST00000684087.1 | UniProtKB/Swiss-Prot | |
ENST00000684700.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000109501 | GTEx |
HGNC ID | HGNC:12762 | ENTREZGENE |
Human Proteome Map | WFS1 | Human Proteome Map |
InterPro | TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Wolframin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Wolframin_Cys-rich | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Wolframin_EF-hand | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Wolframin_fam | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Wolframin_OB_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Wolframin_Sel1-like_rpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:7466 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 7466 | ENTREZGENE |
OMIM | 606201 | OMIM |
PANTHER | PTHR13098 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
WOLFRAMIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | WC-rich | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
WCOB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WEF-hand | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WSLR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA37365 | PharmGKB |
PRINTS | WOLFFAMILY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
WOLFRAMIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0E3H6T4_HUMAN | UniProtKB/TrEMBL |
A0A0S2Z4V4_HUMAN | UniProtKB/TrEMBL | |
A0A0S2Z4V6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A669KAX3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A669KB26_HUMAN | UniProtKB/TrEMBL | |
A0A669KBF0_HUMAN | UniProtKB/TrEMBL | |
A0A804HIL0_HUMAN | UniProtKB/TrEMBL | |
A0A804HIL2_HUMAN | UniProtKB/TrEMBL | |
A0A804HK77_HUMAN | UniProtKB/TrEMBL | |
A0A804HKM5_HUMAN | UniProtKB/TrEMBL | |
B2R797 | ENTREZGENE | |
D3DVT1 | ENTREZGENE | |
H0Y9G5_HUMAN | UniProtKB/TrEMBL | |
O76024 | ENTREZGENE | |
Q8N6I3 | ENTREZGENE | |
Q9UNW6 | ENTREZGENE | |
WFS1_HUMAN | UniProtKB/Swiss-Prot | |
X2CT56_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B2R797 | UniProtKB/Swiss-Prot |
D3DVT1 | UniProtKB/Swiss-Prot | |
Q8N6I3 | UniProtKB/Swiss-Prot | |
Q9UNW6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-23 | WFS1 | wolframin ER transmembrane glycoprotein | WFS1 | Wolfram syndrome 1 (wolframin) | Symbol and/or name change | 5135510 | APPROVED |