Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln)	SNV Germline	Chr4:102885221	Pathogenic	Wolfram syndrome 2	No Assertion Criteria Provided	CA114614	rs_63749888	1 SubmittersRCV000000940
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)	SNV Germline	Chr4:6301966	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA253184	rs_28937890	5 SubmittersRCV000004767 RCV000756934
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val)	SNV Germline	Chr4:6301879	Pathogenic/Likely pathogenic	Wolfram syndrome 1 Condition: not provided Wolfram syndrome 1 Cataract 41 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA253186	rs_28937891	3 SubmittersRCV000004768 RCV005089167 RCV005031390
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)	SNV Germline	Chr4:6301739	Pathogenic	Wolfram syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253188	rs_104893879	3 SubmittersRCV000004769 RCV003114176
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)	SNV Germline	Chr4:6301306	Pathogenic/Likely pathogenic	Wolfram syndrome 1 Wolfram syndrome 1 Wolfram-like syndrome Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Cataract 41 Wolfram-like syndrome Type 2 diabetes mellitus WFS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253190	rs_28937892	7 SubmittersRCV000004770 RCV002243622 RCV001387727 RCV002496259 RCV004737135
NM_006005.3(WFS1):c.460+1G>A	SNV Germline	Chr4:6289132	Pathogenic	Wolfram syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356171817	rs_1191510461	3 SubmittersRCV000004773 RCV001588798
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)	SNV Germline	Chr4:6291961	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA253192	rs_104893880	2 SubmittersRCV000004774
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter)	SNV Germline	Chr4:6302250	Pathogenic	Wolfram syndrome 1	No Assertion Criteria Provided	CA253194	rs_104893881	1 SubmittersRCV000004775
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)	SNV Germline	Chr4:6302281	Pathogenic/Likely pathogenic	Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Inborn genetic diseases Wolfram syndrome 1 Cataract 41 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA253199	rs_104893883	7 SubmittersRCV000004779 RCV000726781 RCV001267554 RCV005041982 RCV003155015
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	SNV Germline	Chr4:6302385	Pathogenic/Likely pathogenic	Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Rare genetic deafness Wolfram syndrome 1 Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss See cases Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116903	rs_74315205	13 SubmittersRCV000004784 RCV000020637 RCV000523215 RCV000599631 RCV001528145 RCV001544536 RCV004794324 RCV004797754 RCV004814826
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)	SNV Germline	Chr4:6302371	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Cataract 41 Wolfram syndrome 1 Type 2 diabetes mellitus WFS1-related disorder Optic atrophy	Criteria Provided Conflicting Classifications	CA253207	rs_121912618	7 SubmittersRCV000004787 RCV000480362 RCV002490313 RCV004532289 RCV004814827
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)	SNV Germline	Chr4:6301846	Pathogenic/Likely pathogenic	Wolfram-like syndrome Wolfram syndrome 1 Condition: not provided Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 6 WFS1-related disorder Optic atrophy Rare genetic deafness Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss WFS1-spectrum disorder	Criteria Provided Multiple Submitters No Conflicts	CA129328	rs_387906930	24 SubmittersRCV000023514 RCV000023515 RCV000200668 RCV000623116 RCV001542531 RCV002280094 RCV004814922 RCV000605882 RCV004808555 RCV005252698
NM_006005.3(WFS1):c.1185C>T (p.Val395=)	SNV Germline	Chr4:6300980	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA136330	rs_1801206	13 SubmittersRCV000038635 RCV000344908 RCV000380942 RCV001523397 RCV002463627
NM_006005.3(WFS1):c.1367G>A (p.Arg456His)	SNV Germline	Chr4:6301162	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA136332	rs_1801208	10 SubmittersRCV000038638 RCV000363867 RCV000269758 RCV001523400 RCV002464096
NM_006005.3(WFS1):c.143C>T (p.Ala48Val)	SNV Germline	Chr4:6277598	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA136334	rs_397517195	4 SubmittersRCV000038639 RCV000766857 RCV002509035
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)	SNV Germline	Chr4:6301290	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Monogenic diabetes Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome Optic atrophy Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA282572	rs_114152068	15 SubmittersRCV000038640 RCV000329452 RCV000384013 RCV000664089 RCV000870509 RCV002504898 RCV004814957 RCV002464097
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)	SNV Germline	Chr4:6301521	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 6 Monogenic diabetes WFS1-Related Spectrum Disorders Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA282576	rs_1805069	12 SubmittersRCV000038643 RCV000307804 RCV000445534 RCV000362526 RCV000755448 RCV002464003
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu)	SNV Germline	Chr4:6301615	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Condition: not provided Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA136338	rs_373862003	7 SubmittersRCV000038645 RCV001174424 RCV001588853 RCV002482999 RCV002513506
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)	SNV Germline	Chr4:6301681	Conflicting classifications of pathogenicity	Rare genetic deafness Condition: not provided Monogenic diabetes Inborn genetic diseases Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA261748	rs_146670741	8 SubmittersRCV000038647 RCV000196272 RCV001174425 RCV002513507 RCV003125863 RCV005031475
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)	SNV Germline	Chr4:6302130	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Condition: not provided Monogenic diabetes Optic atrophy Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA282584	rs_141328044	15 SubmittersRCV000038657 RCV000300529 RCV000404342 RCV000515097 RCV000664095 RCV004814958 RCV002464005 RCV002496613
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)	SNV Germline	Chr4:6302406	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Monogenic diabetes WFS1-Related Spectrum Disorders Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Cataract 41 Wolfram syndrome 1 Type 2 diabetes mellitus Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA285655	rs_71532874	18 SubmittersRCV000081342 RCV000342228 RCV000421798 RCV000445441 RCV001156285 RCV002498427 RCV002464106
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)	SNV Germline	Chr4:6300819	Conflicting classifications of pathogenicity	Condition: not provided WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 not specified Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA231652	rs_148028521	7 SubmittersRCV000118863 RCV001157250 RCV001157249 RCV002509227 RCV000825497 RCV005031615
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)	SNV Germline	Chr4:6302247	Conflicting classifications of pathogenicity	not specified Condition: not provided WFS1-Related Spectrum Disorders Wolfram syndrome 1 Monogenic diabetes Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA289140	rs_35932623	15 SubmittersRCV000118865 RCV000487646 RCV000336052 RCV000987413 RCV000445373 RCV000403034
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)	SNV Germline	Chr4:6301089	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Monogenic diabetes Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 Meniere disease	Criteria Provided Conflicting Classifications	CA295801	rs_35031397	16 SubmittersRCV000155411 RCV000351887 RCV000445544 RCV001157342 RCV000415767 RCV000987408 RCV004567069
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)	SNV Germline	Chr4:6301392	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Monogenic diabetes Condition: not provided WFS1-related disorder Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Inborn genetic diseases Retinal dystrophy Optic atrophy Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA232537	rs_146132083	13 SubmittersRCV000155342 RCV001151987 RCV000664090 RCV000724541 RCV004528845 RCV005025204 RCV001151986 RCV002514675 RCV004815194 RCV004815195 RCV004820834
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)	SNV Germline	Chr4:6301847	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA295578	rs_71539668	11 SubmittersRCV000487609 RCV000152687 RCV001157672 RCV001157673 RCV003126508
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)	SNV Germline	Chr4:6302004	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA232844	rs_147834269	8 SubmittersRCV000132656 RCV000155350 RCV000264975 RCV000324875 RCV000490497
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)	SNV Germline	Chr4:6295127	Conflicting classifications of pathogenicity	not specified Condition: not provided Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome Lymphedema	Criteria Provided Conflicting Classifications	CA295570	rs_145677667	9 SubmittersRCV000152667 RCV000767003 RCV005031660 RCV005625327
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)	SNV Germline	Chr4:6300947	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA182616	rs_149846741	9 SubmittersRCV000155338 RCV000733966 RCV001153036 RCV001153037 RCV002509042
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr)	SNV Germline	Chr4:6301014	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA179639	rs_151244358	5 SubmittersRCV000152670 RCV001308356 RCV002505159 RCV002509252
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)	SNV Germline	Chr4:6301187	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 WFS1-Related Spectrum Disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA179649	rs_565697340	5 SubmittersRCV000152675 RCV001153153 RCV003126546 RCV001153152 RCV001505804
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)	SNV Germline	Chr4:6301553	Conflicting classifications of pathogenicity	not specified Condition: not provided WFS1-Related Spectrum Disorders Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA182626	rs_145144527	9 SubmittersRCV000155345 RCV001704130 RCV000272593 RCV003126556 RCV000327617
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys)	SNV Germline	Chr4:6301717	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA179659	rs_376626985	3 SubmittersRCV000152683 RCV001857526 RCV005365046
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr4:6301752	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram-like syndrome Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Retinal dystrophy WFS1-Related Spectrum Disorders WFS1-related disorder	Criteria Provided Conflicting Classifications	CA295791	rs_201064551	10 SubmittersRCV000155347 RCV000767006 RCV000677339 RCV000515318 RCV004815243 RCV001152091 RCV004534992
NM_006005.3(WFS1):c.2323T>G (p.Phe775Val)	SNV Germline	Chr4:6302118	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA179673	rs_727503753	3 SubmittersRCV000152694 RCV003147359 RCV005512709
NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp)	SNV Germline	Chr4:6302164	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA295582	rs_369107336	3 SubmittersRCV000152697 RCV002056020 RCV003148661
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)	SNV Germline	Chr4:6302249	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA182630	rs_139223980	4 SubmittersRCV000155351 RCV001157875 RCV001157876 RCV003147364 RCV003546482
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)	SNV Germline	Chr4:6302391	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA182744	rs_3821945	11 SubmittersRCV000155412 RCV000664098 RCV000871130 RCV000284874 RCV002492587 RCV000376917 RCV002464132
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)	SNV Germline	Chr4:6302462	Conflicting classifications of pathogenicity	not specified Condition: not provided WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA179687	rs_71526454	8 SubmittersRCV000152702 RCV000864405 RCV001157955 RCV001156288 RCV003128231
NM_006005.3(WFS1):c.128C>T (p.Ala43Val)	SNV Germline	Chr4:6277583	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA179627	rs_727503746	2 SubmittersRCV000152662 RCV002509039
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)	SNV Germline	Chr4:6288996	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Condition: not provided Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA179631	rs_112871383	8 SubmittersRCV000152664 RCV000664085 RCV000727284 RCV002509041 RCV002516064
NM_006005.3(WFS1):c.654C>T (p.Pro218=)	SNV Germline	Chr4:6291939	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA183810	rs_727504666	5 SubmittersRCV000155932 RCV001155462 RCV001155461 RCV002056106 RCV002509043 RCV004544445
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val)	SNV Germline	Chr4:6301032	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1 Inborn genetic diseases WFS1-related disorder	Criteria Provided Conflicting Classifications	CA179641	rs_71524356	6 SubmittersRCV000152671 RCV001719944 RCV002509253 RCV002514938 RCV004737235
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)	SNV Germline	Chr4:6301538	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA179657	rs_377539343	6 SubmittersRCV000152681 RCV000725029 RCV003126550
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)	SNV Germline	Chr4:6301587	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA182628	rs_140125843	7 SubmittersRCV000155346 RCV001155848 RCV001155849 RCV003126557 RCV001510415
NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg)	SNV Germline	Chr4:6302088	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA179671	rs_727503752	2 SubmittersRCV000152693 RCV003128187
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys)	SNV Germline	Chr4:6302265	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA179683	rs_367547063	6 SubmittersRCV000152700 RCV000726782 RCV003147360 RCV002498721
NM_006005.3(WFS1):c.917T>C (p.Met306Thr)	SNV Germline	Chr4:6300712	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Monogenic diabetes Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA180501	rs_146114074	12 SubmittersRCV000154149 RCV000312681 RCV000355811 RCV001174388 RCV000870981 RCV002464008
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	SNV Germline	Chr4:6277579	Pathogenic/Likely pathogenic	Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome Type 2 diabetes mellitus Inborn genetic diseases Meniere disease WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Wolfram-like syndrome Condition: not provided Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Multiple Submitters No Conflicts	CA274502	rs_71530923	16 SubmittersRCV000169684 RCV001536034 RCV001199167 RCV002515205 RCV004567372 RCV004528924 RCV000509458 RCV000514926 RCV002467643
NM_006005.3(WFS1):c.862G>A (p.Val288Met)	SNV Germline	Chr4:6300657	Conflicting classifications of pathogenicity	not specified WFS1-related disorder Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Condition: not provided Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA236437	rs_71537685	6 SubmittersRCV000171514 RCV004737263 RCV002498858 RCV001303065 RCV004584621
NM_006005.3(WFS1):c.683G>A (p.Arg228His)	SNV Germline	Chr4:6291968	Conflicting classifications of pathogenicity	Wolfram-like syndrome not specified Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders WFS1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA246711	rs_150771247	16 SubmittersRCV000023512 RCV000200201 RCV000515386 RCV000724125 RCV001155464 RCV001155463 RCV004537488 RCV004816299
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	SNV Germline	Chr4:6301467	Pathogenic/Likely pathogenic	Wolfram syndrome not specified Condition: not provided WFS1-Related Spectrum Disorders Wolfram syndrome 1 Diabetes mellitus Optic atrophy Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Retinal dystrophy Type 2 diabetes mellitus WFS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA275434	rs_199946797	16 SubmittersRCV000501459 RCV000599628 RCV000255189 RCV000778739 RCV001706152 RCV001175325 RCV004816309 RCV005042394 RCV004816308 RCV003227696 RCV004537507
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)	SNV Germline	Chr4:6302175	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA247675	rs_201078003	5 SubmittersRCV000724671 RCV003148665
NM_006005.3(WFS1):c.2181C>T (p.Ile727=)	SNV Germline	Chr4:6301976	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA247677	rs_140286718	4 SubmittersRCV000180292 RCV003126572
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg)	SNV Germline	Chr4:6302058	Likely pathogenic/Likely risk allele	Wolfram syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA276183	rs_797045075	3 SubmittersRCV000191145 RCV001852540
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)	SNV Germline	Chr4:6300668	Pathogenic	Wolfram syndrome	Criteria Provided Single Submitter	CA276989	rs_777580652	1 SubmittersRCV000192573
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn)	SNV Germline	Chr4:6301980	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA205181	rs_575778537	3 SubmittersRCV000192394 RCV001504622 RCV005042416
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)	SNV Germline	Chr4:6302164	Pathogenic	Wolfram syndrome	Criteria Provided Single Submitter	CA277064	rs_369107336	1 SubmittersRCV000193050
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)	SNV Germline	Chr4:6302219	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA208765	rs_56035336	9 SubmittersRCV000194535 RCV000327535 RCV000386848 RCV000727290 RCV003128234 RCV004530151
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)	SNV Germline	Chr4:6277511	Conflicting classifications of pathogenicity	Condition: not provided Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA320079	rs_376335216	4 SubmittersRCV001705136 RCV002478695 RCV003126588
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)	SNV Germline	Chr4:6277547	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA322377	rs_550975729	4 SubmittersRCV002057034 RCV002509048 RCV004020437
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser)	SNV Germline	Chr4:6277624	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA320631	rs_372783392	3 SubmittersRCV000196208 RCV001853210 RCV005031737
NM_006005.3(WFS1):c.227G>T (p.Gly76Val)	SNV Germline	Chr4:6277682	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Condition: not provided WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Inborn genetic diseases Wolfram syndrome 1 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA322171	rs_200135768	9 SubmittersRCV000197713 RCV000445379 RCV000945649 RCV001151497 RCV001151498 RCV002517278 RCV002509049 RCV004541269
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)	SNV Germline	Chr4:6291241	Pathogenic	Condition: not provided WFS1-related disorder Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA321089	rs_148953711	6 SubmittersRCV000196664 RCV004530178 RCV005031738 RCV004786525
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)	SNV Germline	Chr4:6291367	Pathogenic/Likely pathogenic	Condition: not provided WFS1-related disorder Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Type 2 diabetes mellitus Cataract 41 Wolfram-like syndrome	Criteria Provided Multiple Submitters No Conflicts	CA320894	rs_138682654	5 SubmittersRCV000196477 RCV004737310 RCV004020438 RCV005031739
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)	SNV Germline	Chr4:6295056	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 not specified WFS1-Related Spectrum Disorders Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Inborn genetic diseases Monogenic diabetes Hereditary ataxia	Criteria Provided Conflicting Classifications	CA324030	rs_147147660	11 SubmittersRCV000732080 RCV001157140 RCV000825496 RCV001157139 RCV000765775 RCV002517279 RCV001174387 RCV005625437
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)	SNV Germline	Chr4:6295145	Conflicting classifications of pathogenicity	not specified Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA324907	rs_142428158	4 SubmittersRCV000200344 RCV000765776 RCV000767004
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr)	SNV Germline	Chr4:6300771	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Wolfram syndrome 1 Optic atrophy Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA321512	rs_200790641	6 SubmittersRCV002102698 RCV003015247 RCV002509128 RCV004816958 RCV005032159
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn)	SNV Germline	Chr4:6300810	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA323935	rs_772392224	4 SubmittersRCV000199397 RCV001853207 RCV002509293
NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn)	SNV Germline	Chr4:6300930	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA319808	rs_772554352	3 SubmittersRCV000195462 RCV002517273 RCV002509047
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly)	SNV Germline	Chr4:6300990	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Type 2 diabetes mellitus Cataract 41 Wolfram-like syndrome WFS1-related disorder Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA320196	rs_767561828	6 SubmittersRCV000727080 RCV002500615 RCV004530179 RCV002509294
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)	SNV Germline	Chr4:6301030	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA322524	rs_144951440	5 SubmittersRCV000345927 RCV000490282 RCV000825691 RCV000953870 RCV000987407
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys)	SNV Germline	Chr4:6301111	Conflicting classifications of pathogenicity	Hearing impairment Condition: not provided WFS1-related disorder Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA324094	rs_141585847	6 SubmittersRCV001375053 RCV000199551 RCV004530180 RCV005625438 RCV005025322
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)	SNV Germline	Chr4:6301166	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Monogenic diabetes Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 not specified Hearing impairment Spastic ataxia Inborn genetic diseases WFS1-related disorder	Criteria Provided Conflicting Classifications	CA320009	rs_113446173	14 SubmittersRCV000488089 RCV001153150 RCV001153151 RCV001174421 RCV000765780 RCV000603890 RCV001375054 RCV001640297 RCV004020439 RCV004530181
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)	SNV Germline	Chr4:6301302	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA321920	rs_573775230	5 SubmittersRCV001155751 RCV001155752 RCV001722099 RCV003126580 RCV005031734
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser)	SNV Germline	Chr4:6301452	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA321171	rs_150840308	4 SubmittersRCV000196751 RCV003126581 RCV002515446
NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg)	SNV Germline	Chr4:6301479	Likely pathogenic/Likely risk allele	Condition: not provided Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA322818	rs_753237278	2 SubmittersRCV000198315 RCV003126589
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)	SNV Germline	Chr4:6301555	Conflicting classifications of pathogenicity	not specified Condition: not provided Monogenic diabetes Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Inborn genetic diseases Type 2 diabetes mellitus Wolfram syndrome 1 WFS1-related disorder Optic atrophy	Criteria Provided Conflicting Classifications	CA324347	rs_71539657	12 SubmittersRCV000199802 RCV000726428 RCV000445430 RCV001155846 RCV001155847 RCV002517275 RCV003227712 RCV004737309 RCV004816334
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp)	SNV Germline	Chr4:6301574	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Wolfram syndrome 1 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA320964	rs_144783536	9 SubmittersRCV000196541 RCV001705134 RCV004020436 RCV003126582 RCV004541267
NM_006005.3(WFS1):c.1801G>A (p.Val601Met)	SNV Germline	Chr4:6301596	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA323280	rs_147838635	4 SubmittersRCV000198752 RCV000728671 RCV003126583
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	SNV Germline	Chr4:6301815	Conflicting classifications of pathogenicity	Condition: not provided not specified WFS1-Related Spectrum Disorders Wolfram syndrome 1 Diabetes mellitus Hearing impairment Inborn genetic diseases Wolfram-like syndrome Retinal dystrophy Optic atrophy Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA321852	rs_200672755	17 SubmittersRCV000197395 RCV000825499 RCV000625904 RCV001789765 RCV001175319 RCV001375186 RCV002517281 RCV003884394 RCV004816335 RCV004816336 RCV004796093 RCV004530182
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)	SNV Germline	Chr4:6301849	Conflicting classifications of pathogenicity	Condition: not provided Hearing impairment Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Cataract 41	Criteria Provided Conflicting Classifications	CA322762	rs_142668478	11 SubmittersRCV000513230 RCV001375052 RCV002288800 RCV005042420
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)	SNV Germline	Chr4:6301989	Conflicting classifications of pathogenicity	Monogenic diabetes Type 2 diabetes mellitus Condition: not provided Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA325020	rs_71526458	5 SubmittersRCV000445445 RCV001542532 RCV001857736 RCV002500616
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)	SNV Germline	Chr4:6302049	Pathogenic/Likely pathogenic	Condition: not provided Wolfram-like syndrome Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA319834	rs_201239579	5 SubmittersRCV000195490 RCV001730586 RCV005031741
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)	SNV Germline	Chr4:6302142	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Wolfram syndrome 1 Condition: not provided WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Cataract 41	Criteria Provided Conflicting Classifications	CA323353	rs_71526461	9 SubmittersRCV000198824 RCV001152302 RCV003147401 RCV001722100 RCV004530177 RCV001152301 RCV002517277 RCV005031736
NM_006005.3(WFS1):c.2453G>A (p.Arg818His)	SNV Germline	Chr4:6302248	Conflicting classifications of pathogenicity	Condition: not provided WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA321767	rs_575851859	4 SubmittersRCV000197313 RCV000300930 RCV000339404 RCV003147402
NM_006005.3(WFS1):c.2603G>A (p.Arg868His)	SNV Germline	Chr4:6302398	Conflicting classifications of pathogenicity	Condition: not provided Autistic behavior Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Inborn genetic diseases not specified Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Cataract 41	Criteria Provided Conflicting Classifications	CA324220	rs_56393026	12 SubmittersRCV000199675 RCV000502304 RCV001156283 RCV001156284 RCV002517282 RCV004782306 RCV004786526 RCV002485311
NM_006005.3(WFS1):c.375C>T (p.Thr125=)	SNV Germline	Chr4:6289046	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838875	rs_762324196	5 SubmittersRCV000213245 RCV002057162 RCV001155341 RCV001155342 RCV002509053
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)	SNV Germline	Chr4:6300786	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Cataract 41 Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2839183	rs_144888979	6 SubmittersRCV000220517 RCV001325067 RCV002485411 RCV002509310 RCV004020642
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)	SNV Germline	Chr4:6300832	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839198	rs_773900146	6 SubmittersRCV000221182 RCV001291575 RCV005025353 RCV002288843
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)	SNV Germline	Chr4:6301085	Conflicting classifications of pathogenicity	not specified Nonsyndromic Hearing Loss, Dominant WFS1-Related Spectrum Disorders Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839297	rs_752100338	4 SubmittersRCV000223036 RCV000404067 RCV000311096 RCV001853422 RCV003126607
NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile)	SNV Germline	Chr4:6301177	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10576638	rs_71530925	2 SubmittersRCV000217826 RCV003126610
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)	SNV Germline	Chr4:6301194	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839334	rs_142700542	5 SubmittersRCV000216086 RCV001153154 RCV000945710 RCV001153155 RCV003150109
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)	SNV Germline	Chr4:6302045	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1 WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2839661	rs_369498603	11 SubmittersRCV000220143 RCV000993558 RCV003128239 RCV004532750 RCV001156085 RCV001156086
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)	SNV Germline	Chr4:6302201	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA2839724	rs_201102144	5 SubmittersRCV000216669 RCV002057181 RCV005031791 RCV004821279
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)	SNV Germline	Chr4:6277624	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2838810	rs_372783392	5 SubmittersRCV000238677 RCV002509055 RCV002479950 RCV001857836
NM_006005.3(WFS1):c.2623G>A (p.Val875Met)	SNV Germline	Chr4:6302418	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2839810	rs_547459104	3 SubmittersRCV000249383 RCV003126656 RCV005090262
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr)	SNV Germline	Chr4:6302415	Conflicting classifications of pathogenicity	Condition: not provided Type 2 diabetes mellitus Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA2839807	rs_200775335	6 SubmittersRCV000312654 RCV002480014 RCV004584656
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)	SNV Germline	Chr4:6301917	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes Wolfram-like syndrome Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Inborn genetic diseases WFS1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2839605	rs_200099217	9 SubmittersRCV000585352 RCV000445375 RCV002494843 RCV004021170 RCV004535338 RCV004816498
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)	SNV Germline	Chr4:6301834	Conflicting classifications of pathogenicity	not specified Monogenic diabetes Condition: not provided Wolfram syndrome 1 Wolfram-like syndrome Wolfram syndrome 1 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA2839581	rs_144840779	8 SubmittersRCV000354766 RCV000664092 RCV000725856 RCV003126663 RCV002467719 RCV004543084
NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr)	SNV Germline	Chr4:6302344	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839773	rs_748404777	3 SubmittersRCV000377710 RCV003147443
NM_006005.3(WFS1):c.975C>T (p.Asn325=)	SNV Germline	Chr4:6300770	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839177	rs_141177727	4 SubmittersRCV000304909 RCV000726076 RCV002509056
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala)	SNV Germline	Chr4:6301666	Conflicting classifications of pathogenicity	Condition: not provided WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Cataract 41 Wolfram-like syndrome Type 2 diabetes mellitus Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA2839529	rs_747477628	4 SubmittersRCV000280969 RCV001152089 RCV001152090 RCV005031869
NM_006005.3(WFS1):c.114C>T (p.Ser38=)	SNV Germline	Chr4:6277569	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838798	rs_531593902	5 SubmittersRCV000302883 RCV000878611 RCV001156918 RCV001156919 RCV002509057
NM_006005.3(WFS1):c.1416C>A (p.Pro472=)	SNV Germline	Chr4:6301211	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839341	rs_530734300	3 SubmittersRCV000312475 RCV003126666
NM_006005.3(WFS1):c.-129A>G	SNV Germline	Chr4:6269891	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10618100	rs_886059522	2 SubmittersRCV000368062 RCV000311162 RCV002465629
NM_006005.3(WFS1):c.2436C>T (p.Ser812=)	SNV Germline	Chr4:6302231	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839736	rs_142630687	5 SubmittersRCV000278650 RCV000388081 RCV000842423 RCV003147449
NM_006005.3(WFS1):c.2481C>T (p.Thr827=)	SNV Germline	Chr4:6302276	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10618107	rs_886059532	3 SubmittersRCV000364583 RCV000307840 RCV002057941 RCV003147450
NM_006005.3(WFS1):c.1311C>T (p.Gly437=)	SNV Germline	Chr4:6301106	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10619003	rs_886059529	2 SubmittersRCV000303795 RCV000358560 RCV003126692
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val)	SNV Germline	Chr4:6301128	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 Optic atrophy	Criteria Provided Conflicting Classifications	CA2839313	rs_764932308	7 SubmittersRCV000268583 RCV000323738 RCV001795968 RCV003126693 RCV004816596
NM_006005.3(WFS1):c.2340C>A (p.Gly780=)	SNV Germline	Chr4:6302135	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10619010	rs_886059531	2 SubmittersRCV000265146 RCV000355409 RCV003147448
NM_006005.3(WFS1):c.*506C>T	SNV Germline	Chr4:6302974	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10619022	rs_886059536	2 SubmittersRCV000272626 RCV000383357 RCV003126706
NM_006005.3(WFS1):c.-130C>T	SNV Germline	Chr4:6269890	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10621427	rs_576284630	3 SubmittersRCV000277097 RCV000369984 RCV002465628 RCV002263626
NM_006005.3(WFS1):c.-105T>G	SNV Germline	Chr4:6269915	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621428	rs_886059523	2 SubmittersRCV000260447 RCV000371417 RCV002465631
NM_006005.3(WFS1):c.132C>T (p.Pro44=)	SNV Germline	Chr4:6277587	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2838805	rs_754346893	3 SubmittersRCV000267799 RCV000320494 RCV002509060 RCV003546544
NM_006005.3(WFS1):c.168C>T (p.Asp56=)	SNV Germline	Chr4:6277623	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838809	rs_112598170	3 SubmittersRCV000871785 RCV000271264 RCV000358930 RCV002509061
NM_006005.3(WFS1):c.2157C>T (p.Ala719=)	SNV Germline	Chr4:6301952	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621440	rs_766900991	3 SubmittersRCV000353840 RCV000916957 RCV000298215 RCV003126694
NM_006005.3(WFS1):c.*258A>G	SNV Germline	Chr4:6302726	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621444	rs_886059533	2 SubmittersRCV000288853 RCV000346119 RCV003126698
NM_006005.3(WFS1):c.*520G>A	SNV Germline	Chr4:6302988	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621458	rs_573433508	2 SubmittersRCV000294472 RCV000351770 RCV003126708
NM_006005.3(WFS1):c.-141A>G	SNV Germline	Chr4:6269879	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10621460	rs_373287522	3 SubmittersRCV000309275 RCV000347836 RCV002465626 RCV003437109
NM_006005.3(WFS1):c.*700C>A	SNV Germline	Chr4:6303168	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621462	rs_528424908	2 SubmittersRCV000316482 RCV000373505 RCV003126715
NM_006005.3(WFS1):c.-133G>T	SNV Germline	Chr4:6269887	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621467	rs_886059521	2 SubmittersRCV000308356 RCV000397359 RCV002465627
NM_006005.3(WFS1):c.-106A>G	SNV Germline	Chr4:6269914	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621468	rs_868329184	2 SubmittersRCV000261786 RCV000319102 RCV002465630
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)	SNV Germline	Chr4:6277483	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders not specified Wolfram syndrome 1 Condition: not provided Type 2 diabetes mellitus Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Wolfram-like syndrome Type 2 diabetes mellitus Wolfram syndrome 1 Cataract 41	Criteria Provided Conflicting Classifications	CA2838778	rs_760256649	6 SubmittersRCV000295015 RCV000348875 RCV002248624 RCV002508932 RCV003546543 RCV003227746 RCV005033883
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	SNV Germline	Chr4:6301634	Pathogenic	WFS1-Related Spectrum Disorders Diabetes mellitus Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram-like syndrome Type 2 diabetes mellitus Wolfram syndrome 1 Cataract 41	Criteria Provided Multiple Submitters No Conflicts	CA2839516	rs_143064649	5 SubmittersRCV000285512 RCV001175324 RCV001861234 RCV002502346
NM_006005.3(WFS1):c.*526A>C	SNV Germline	Chr4:6302994	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621491	rs_886059537	2 SubmittersRCV000279361 RCV000371638 RCV003126709
NM_006005.3(WFS1):c.*605T>C	SNV Germline	Chr4:6303073	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621499	rs_886059538	2 SubmittersRCV000305800 RCV000403148 RCV003126711
NM_006005.3(WFS1):c.*654G>A	SNV Germline	Chr4:6303122	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA10621500	rs_886059539	2 SubmittersRCV000309170 RCV000366224 RCV003126713
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)	SNV Germline	Chr4:6289047	Pathogenic/Likely pathogenic	Condition: not provided Wolfram syndrome 1 Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA2838877	rs_145639028	6 SubmittersRCV000413912 RCV002469144 RCV004816642
NM_006005.3(WFS1):c.2191A>G (p.Met731Val)	SNV Germline	Chr4:6301986	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA2839640	rs_144010362	4 SubmittersRCV000415192 RCV002521464 RCV005033949
NM_006005.3(WFS1):c.231C>T (p.Thr77=)	SNV Germline	Chr4:6277686	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838823	rs_372609400	3 SubmittersRCV001721437 RCV002509068
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)	SNV Unknown	Chr4:6277627	Conflicting classifications of pathogenicity	Monogenic diabetes Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA16609249	rs_1057524887	3 SubmittersRCV000445526 RCV002509070 RCV002488989
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)	SNV Germline	Chr4:6291932	Conflicting classifications of pathogenicity	Monogenic diabetes not specified Condition: not provided Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838986	rs_141233896	7 SubmittersRCV000445466 RCV000518948 RCV000766821 RCV002509072 RCV005033961
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)	SNV Germline	Chr4:6301060	Conflicting classifications of pathogenicity	Monogenic diabetes not specified WFS1-Related Spectrum Disorders Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 WFS1-related disorder Wolfram-like syndrome Cataract 41 Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA2839291	rs_150368988	12 SubmittersRCV000445460 RCV000825498 RCV001157340 RCV000993556 RCV001157339 RCV002509384 RCV004737491 RCV005033962
NM_006005.3(WFS1):c.1896G>T (p.Met632Ile)	SNV Germline	Chr4:6301691	Conflicting classifications of pathogenicity	Monogenic diabetes Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA16609253	rs_1057524890	3 SubmittersRCV000445427 RCV001851112 RCV003128192
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)	SNV Germline	Chr4:6301848	Conflicting classifications of pathogenicity	Monogenic diabetes Condition: not provided Wolfram syndrome 1 Meniere disease Optic atrophy WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 Wolfram-like syndrome Cataract 41 Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA2839583	rs_112967046	10 SubmittersRCV000445499 RCV001351930 RCV002250628 RCV004567928 RCV004816668 RCV004529580 RCV004668975 RCV005033963
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)	SNV Germline	Chr4:6291341	Pathogenic/Likely pathogenic	Condition: not provided Wolfram syndrome 1 Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA16618051	rs_1064794257	5 SubmittersRCV000486801 RCV002469171 RCV004816689
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)	SNV Germline	Chr4:6301468	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Wolfram syndrome 1 WFS1-related disorder Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Optic atrophy Cataract 41 Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2839440	rs_774265764	9 SubmittersRCV000489883 RCV004678726 RCV004772936 RCV004527597 RCV004698343 RCV004816720 RCV002489199 RCV004017644
NM_006005.3(WFS1):c.2027G>A (p.Arg676His)	SNV Germline	Chr4:6301822	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Type 2 diabetes mellitus Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Cataract 41	Criteria Provided Conflicting Classifications	CA2839577	rs_143055296	4 SubmittersRCV000490173 RCV005034027
NM_006005.3(WFS1):c.2061G>C (p.Gln687His)	SNV Germline	Chr4:6301856	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Type 2 diabetes mellitus Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Cataract 41	Criteria Provided Conflicting Classifications	CA2839587	rs_760938537	3 SubmittersRCV000490103 RCV005034030
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)	SNV Germline	Chr4:6300877	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2839213	rs_781575919	3 SubmittersRCV000493450 RCV005034035
NM_006005.3(WFS1):c.1607T>A (p.Val536Glu)	SNV Germline	Chr4:6301402	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356176227	rs_1553878625	3 SubmittersRCV000498432 RCV003126759
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)	SNV Germline	Chr4:6301984	Pathogenic/Likely pathogenic	Condition: not provided Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA2839638	rs_760171298	3 SubmittersRCV000498226 RCV003126758
NM_006005.3(WFS1):c.966C>T (p.His322=)	SNV Germline	Chr4:6300761	Conflicting classifications of pathogenicity	not specified Condition: not provided WFS1-Related Spectrum Disorders Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA2839172	rs_140196582	6 SubmittersRCV000499529 RCV000951748 RCV001155563 RCV002509076 RCV001155564 RCV004535626
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)	SNV Germline	Chr4:6302449	Pathogenic/Likely pathogenic	Wolfram syndrome Wolfram-like syndrome Wolfram syndrome 1 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Condition: not provided Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Multiple Submitters No Conflicts	CA2839823	rs_372855769	7 SubmittersRCV000503566 RCV001849390 RCV002506232 RCV003233655 RCV001857186 RCV003335435
NM_006005.3(WFS1):c.2540G>A (p.Cys847Tyr)	SNV Germline	Chr4:6302335	Conflicting classifications of pathogenicity	Autistic behavior Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356179170	rs_1394576939	4 SubmittersRCV000500223 RCV000519327 RCV003147488
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)	SNV Germline	Chr4:6301519	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome Cataract 41	Criteria Provided Conflicting Classifications	CA2839458	rs_71524360	4 SubmittersRCV000506948 RCV000765784
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met)	SNV Germline	Chr4:6301262	Conflicting classifications of pathogenicity	Condition: not provided Type 2 diabetes mellitus Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839365	rs_768029820	5 SubmittersRCV000520862 RCV001198043 RCV005034069 RCV003126789
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)	SNV Germline	Chr4:6301944	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41	Criteria Provided Conflicting Classifications	CA2839622	rs_71532863	4 SubmittersRCV000518926 RCV002490902
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter)	SNV Germline	Chr4:6302395	Pathogenic/Likely pathogenic	Condition: not provided Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA356179417	rs_1553879087	2 SubmittersRCV000518978 RCV003147503
NM_006005.3(WFS1):c.1536C>T (p.Leu512=)	SNV Germline	Chr4:6301331	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA438368488	rs_199728640	2 SubmittersRCV000596732 RCV003126840
NM_006005.3(WFS1):c.726C>T (p.Ile242=)	SNV Germline	Chr4:6295054	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839039	rs_71524381	6 SubmittersRCV000727378 RCV002509460
NM_006005.3(WFS1):c.436C>T (p.Arg146Cys)	SNV Germline	Chr4:6289107	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356171734	rs_1553876694	2 SubmittersRCV000612852 RCV002509085
NM_006005.3(WFS1):c.754A>G (p.Lys252Glu)	SNV Germline	Chr4:6295082	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356172467	rs_1553877330	2 SubmittersRCV000612590 RCV002509466
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)	SNV Germline	Chr4:6295120	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1 WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2839056	rs_373669861	7 SubmittersRCV000612750 RCV002509080 RCV004530733 RCV005034186 RCV002532737
NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala)	SNV Germline	Chr4:6301263	Conflicting classifications of pathogenicity	Wolfram syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA356175084	rs_1553878548	2 SubmittersRCV003126843 RCV000614284
NM_006005.3(WFS1):c.2516T>C (p.Val839Ala)	SNV Germline	Chr4:6302311	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839760	rs_761114952	4 SubmittersRCV000606633 RCV002529322 RCV003147519
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)	SNV Germline	Chr4:6277580	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838801	rs_750806151	4 SubmittersRCV000599723 RCV001860339 RCV003126870
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val)	SNV Germline	Chr4:6301501	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Wolfram syndrome 1 WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839455	rs_144492050	7 SubmittersRCV000615776 RCV001366053 RCV002532738 RCV003126842 RCV004737882 RCV005034188
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)	SNV Germline	Chr4:6302184	Conflicting classifications of pathogenicity	Rare genetic deafness Condition: not provided WFS1-related disorder Autosomal dominant nonsyndromic hearing loss Optic atrophy Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356178487	rs_1553879004	11 SubmittersRCV000616575 RCV001092549 RCV004533263 RCV004794421 RCV004817822 RCV003148806
NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu)	SNV Germline	Chr4:6302225	Conflicting classifications of pathogenicity	not specified Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356178567	rs_1553879021	2 SubmittersRCV000615392 RCV003128249
NM_006005.3(WFS1):c.-4C>T	SNV Germline	Chr4:6277452	Conflicting classifications of pathogenicity	Wolfram syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA2838775	rs_746340627	2 SubmittersRCV002472311 RCV000608618
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile)	SNV Germline	Chr4:6300780	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41	Criteria Provided Conflicting Classifications	CA2839181	rs_188848517	5 SubmittersRCV000609447 RCV001155565 RCV001155566 RCV001558737 RCV005034187
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met)	SNV Germline	Chr4:6301564	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA2839483	rs_760280308	3 SubmittersRCV002529336 RCV003126844 RCV000608372
NM_006005.3(WFS1):c.1656C>T (p.Thr552=)	SNV Germline	Chr4:6301451	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839431	rs_141477172	5 SubmittersRCV001151988 RCV001151989 RCV001718966 RCV003126866
NM_006005.3(WFS1):c.345C>T (p.Gly115=)	SNV Germline	Chr4:6289016	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838869	rs_200385504	4 SubmittersRCV001155339 RCV001155340 RCV001722603 RCV002509081
NM_006005.3(WFS1):c.2208C>T (p.Gly736=)	SNV Germline	Chr4:6302003	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Condition: not provided Wolfram syndrome 1 WFS1-related disorder	Criteria Provided Conflicting Classifications	CA2839645	rs_141020933	6 SubmittersRCV001153484 RCV001153485 RCV001704817 RCV003126869 RCV004544798
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)	SNV Germline	Chr4:6289001	Pathogenic	Type 2 diabetes mellitus Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA356171265	rs_1553876668	2 SubmittersRCV000626276 RCV002509088
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val)	SNV Germline	Chr4:6300976	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia WFS1-related disorder Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA2839247	rs_146563951	6 SubmittersRCV000657864 RCV001644744 RCV004737937 RCV005027770
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)	SNV Germline	Chr4:6300772	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839178	rs_369795224	7 SubmittersRCV000727902 RCV004788150 RCV005036043
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)	SNV Germline	Chr4:6277609	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Wolfram-like syndrome Wolfram syndrome 1 Type 2 diabetes mellitus Cataract 41 Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA2838807	rs_111773340	7 SubmittersRCV000729050 RCV002509089 RCV005036054
NM_006005.3(WFS1):c.2201T>A (p.Leu734His)	SNV Germline	Chr4:6301996	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356178091	rs_1409267086	2 SubmittersRCV000729131 RCV003126923
NM_006005.3(WFS1):c.498C>G (p.Leu166=)	SNV Germline	Chr4:6291234	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838921	rs_758731318	3 SubmittersRCV000730089 RCV002509090
NM_006005.3(WFS1):c.1149C>T (p.Arg383=)	SNV Germline	Chr4:6300944	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA438368115	rs_1560418384	2 SubmittersRCV000730231 RCV002509091
NM_001008388.5(CISD2):c.103+1G>A	SNV Germline	Chr4:102869188	Pathogenic	Wolfram syndrome 2	No Assertion Criteria Provided	CA357760380	rs_1578307302	1 SubmittersRCV000790904
NM_006005.3(WFS1):c.1695C>T (p.Leu565=)	SNV Germline	Chr4:6301490	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839450	rs_755736687	3 SubmittersRCV000951873 RCV003127555
NM_006005.3(WFS1):c.772G>A (p.Val258Ile)	SNV Germline	Chr4:6295100	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839047	rs_757414862	3 SubmittersRCV000908039 RCV002509110
NM_006005.3(WFS1):c.1263C>T (p.Ile421=)	SNV Germline	Chr4:6301058	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided WFS1-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2839288	rs_748103155	4 SubmittersRCV002509582 RCV001155664 RCV000939866 RCV001155665
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)	SNV Germline	Chr4:6301802	Pathogenic/Likely pathogenic	Wolfram syndrome 1 WFS1-Related Spectrum Disorders Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA356177277	rs_1443751733	6 SubmittersRCV000987412 RCV002221595 RCV002479153 RCV001858665 RCV002252279
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys)	SNV Germline	Chr4:6291265	Conflicting classifications of pathogenicity	Condition: not provided WFS1-related disorder Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91794574	rs_760631912	5 SubmittersRCV000998213 RCV004738111 RCV002509116
NM_006005.3(WFS1):c.861+2T>C	SNV Germline	Chr4:6295191	Pathogenic	Condition: not provided Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA356172692	rs_1730600472	2 SubmittersRCV001092545 RCV004527413
NM_006005.3(WFS1):c.-148G>T	SNV Germline	Chr4:6269872	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91777900	rs_542977017	2 SubmittersRCV001155155 RCV001155156 RCV002465835
NM_006005.3(WFS1):c.-127A>G	SNV Germline	Chr4:6269893	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91777976	rs_542116747	2 SubmittersRCV001156812 RCV001156813 RCV002465836
NM_006005.3(WFS1):c.-93G>C	SNV Germline	Chr4:6269927	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA1139658433	rs_1729749153	2 SubmittersRCV001151387 RCV001151388 RCV002465833
NM_006005.3(WFS1):c.-43G>C	SNV Germline	Chr4:6269977	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA1139658434	rs_1578579501	3 SubmittersRCV001151390 RCV001882467 RCV001151389 RCV002465834
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg)	SNV Germline	Chr4:6277687	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 not specified Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91787597	rs_777964510	5 SubmittersRCV001151499 RCV001151500 RCV004587052 RCV001882469 RCV003127651
NM_006005.3(WFS1):c.445T>C (p.Leu149=)	SNV Germline	Chr4:6289116	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA438210874	rs_1730394064	2 SubmittersRCV001157027 RCV001157026 RCV002509120
NM_006005.3(WFS1):c.504C>T (p.Ser168=)	SNV Germline	Chr4:6291240	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2838922	rs_71537675	4 SubmittersRCV001502896 RCV002509119 RCV001154625 RCV001154626
NM_006005.3(WFS1):c.695G>A (p.Arg232His)	SNV Germline	Chr4:6291980	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Condition: not provided Wolfram syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA2838997	rs_375904080	5 SubmittersRCV001157137 RCV001157138 RCV002032453 RCV002509121 RCV005438058
NM_006005.3(WFS1):c.804C>T (p.Asp268=)	SNV Germline	Chr4:6295132	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839063	rs_199741678	4 SubmittersRCV001157142 RCV001157141 RCV001759913 RCV002509122
NM_006005.3(WFS1):c.1509C>T (p.Val503=)	SNV Germline	Chr4:6301304	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA438368402	rs_1267751619	2 SubmittersRCV001155753 RCV001157456 RCV003127663
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)	SNV Germline	Chr4:6301375	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 WFS1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2839408	rs_372663248	6 SubmittersRCV001157461 RCV001157460 RCV002070938 RCV003127668 RCV005029732 RCV004528398 RCV004032829
NM_006005.3(WFS1):c.1986C>T (p.Ser662=)	SNV Germline	Chr4:6301781	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91796740	rs_1055393876	2 SubmittersRCV001153355 RCV001153356 RCV003127656
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser)	SNV Germline	Chr4:6301806	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839572	rs_763020615	4 SubmittersRCV001153359 RCV001153360 RCV001560362 RCV003127657
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)	SNV Germline	Chr4:6302041	Conflicting classifications of pathogenicity	not specified WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1 Condition: not provided Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839658	rs_199769524	6 SubmittersRCV005419012 RCV001156083 RCV001156084 RCV002491451 RCV002558354 RCV003127665
NM_006005.3(WFS1):c.2514T>C (p.Pro838=)	SNV Germline	Chr4:6302309	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 WFS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2839758	rs_773643250	4 SubmittersRCV001152405 RCV001152404 RCV003147593 RCV004738168 RCV002558325
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)	SNV Germline	Chr4:6302459	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 Condition: not provided Wolfram syndrome 1 WFS1-Related Spectrum Disorders Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 not specified	Criteria Provided Conflicting Classifications	CA2839825	rs_756116434	6 SubmittersRCV001156286 RCV002032442 RCV003128314 RCV001156287 RCV002483899 RCV005437007
NM_006005.3(WFS1):c.*11C>G	SNV Germline	Chr4:6302479	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91797957	rs_919707549	2 SubmittersRCV001157956 RCV001157957 RCV003128378
NM_006005.3(WFS1):c.*14C>T	SNV Germline	Chr4:6302482	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2839836	rs_775493668	3 SubmittersRCV001157959 RCV001157958 RCV003128315 RCV004720075
NM_006005.3(WFS1):c.*37C>A	SNV Germline	Chr4:6302505	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA549708064	rs_1312854010	2 SubmittersRCV001157961 RCV001157960 RCV003128379
NM_006005.3(WFS1):c.*158G>A	SNV Germline	Chr4:6302626	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91798153	rs_548892128	2 SubmittersRCV001156396 RCV001156397 RCV003127666
NM_006005.3(WFS1):c.*223C>G	SNV Germline	Chr4:6302691	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91798187	rs_905909594	2 SubmittersRCV001156398 RCV001158066 RCV003127667
NM_006005.3(WFS1):c.*260G>C	SNV Germline	Chr4:6302728	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91798210	rs_71530909	2 SubmittersRCV001152598 RCV001152597 RCV003127653
NM_006005.3(WFS1):c.*300A>G	SNV Germline	Chr4:6302768	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91798237	rs_541125786	2 SubmittersRCV001153880 RCV001153881 RCV003127658
NM_006005.3(WFS1):c.*448A>T	SNV Germline	Chr4:6302916	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91798312	rs_113513950	2 SubmittersRCV001153884 RCV001154727 RCV003127660
NM_006005.3(WFS1):c.*455A>G	SNV Germline	Chr4:6302923	Conflicting classifications of pathogenicity	WFS1-Related Spectrum Disorders Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91798322	rs_756674774	2 SubmittersRCV001154729 RCV001154728 RCV003127662
NM_006005.3(WFS1):c.*656C>T	SNV Germline	Chr4:6303124	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91798498	rs_772538455	2 SubmittersRCV001153981 RCV001153982 RCV003127661
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)	SNV Germline	Chr4:6295145	Pathogenic	Diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Condition: not provided WFS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2839068	rs_142428158	4 SubmittersRCV001175321 RCV002497609 RCV001875777 RCV004738178
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)	SNV Germline	Chr4:6301415	Pathogenic	Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA91796398	rs_1038816435	2 SubmittersRCV001195287
NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr)	SNV Germline	Chr4:6302200	Conflicting classifications of pathogenicity	Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356178521	rs_1730963697	2 SubmittersRCV001253644 RCV003148959
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu)	SNV Unknown	Chr4:6288991	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA91794306	rs_71530914	1 SubmittersRCV001262572
NM_006005.3(WFS1):c.412C>T (p.Arg138Cys)	SNV Germline	Chr4:6289083	Conflicting classifications of pathogenicity	Condition: not provided WFS1-related disorder Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838886	rs_780394696	5 SubmittersRCV001296231 RCV004738232 RCV002509124
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)	SNV Germline	Chr4:6300891	Pathogenic/Likely pathogenic	Condition: not provided Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA2839217	rs_761320763	5 SubmittersRCV001310826 RCV002499595
NM_006005.3(WFS1):c.1291G>C (p.Glu431Gln)	SNV Unknown	Chr4:6301086	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356174621	rs_2109125661	1 SubmittersRCV001647212
NM_006005.3(WFS1):c.1523A>G (p.Tyr508Cys)	SNV Germline	Chr4:6301318	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA356175816	rs_1477371498	3 SubmittersRCV001647213 RCV001859246
NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter)	SNV Germline	Chr4:6302458	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA356179808	rs_547089139	2 SubmittersRCV001730050 RCV004040016
NM_006005.3(WFS1):c.1623T>G (p.Cys541Trp)	SNV Germline	Chr4:6301418	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2839422	rs_745712429	3 SubmittersRCV001350530 RCV003127829 RCV003284244
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg)	SNV Germline	Chr4:6302227	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Wolfram-like syndrome Cataract 41 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA2839734	rs_557048986	4 SubmittersRCV001504964 RCV003346586 RCV005038242
NM_006005.3(WFS1):c.1148G>A (p.Arg383His)	SNV Germline	Chr4:6300943	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839237	rs_369450642	7 SubmittersRCV001519101 RCV002501816 RCV004789643
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)	SNV Germline	Chr4:6277531	Pathogenic	Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome Cataract 41 Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA2838791	rs_747658523	3 SubmittersRCV001535831 RCV004690112
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)	SNV Germline	Chr4:6301751	Pathogenic	Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome Cataract 41 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356177173	rs_772357412	2 SubmittersRCV001535945 RCV003708603
NM_006005.3(WFS1):c.1309G>C (p.Gly437Arg)	SNV Germline	Chr4:6301104	Pathogenic/Likely pathogenic	Condition: not provided Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA2839306	rs_147974629	2 SubmittersRCV001564069 RCV004785280
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)	SNV Germline	Chr4:6301744	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Wolfram-like syndrome Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA2839556	rs_765322804	3 SubmittersRCV001592475 RCV002477860
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)	SNV Germline	Chr4:6289058	Pathogenic/Likely pathogenic	Wolfram syndrome 1 Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Wolfram-like syndrome Wolfram syndrome 1 Cataract 41 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA2838879	rs_764993824	3 SubmittersRCV001667855 RCV005094881 RCV002496000
NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter)	SNV Germline	Chr4:6301756	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356177180	rs_1189512943	1 SubmittersRCV001667856
NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly)	SNV Germline	Chr4:6301992	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356178081	rs_2109127192	1 SubmittersRCV001667857
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys)	SNV Germline	Chr4:6301902	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2839602	rs_201888856	6 SubmittersRCV001730049 RCV005038283 RCV005520557 RCV002538697
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr)	SNV Germline	Chr4:6300883	Likely pathogenic	Wolfram syndrome 1	No Assertion Criteria Provided	CA356174225	rs_1386447227	1 SubmittersRCV001789842
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)	SNV Germline	Chr4:6302001	Pathogenic/Likely pathogenic	Condition: not provided Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA2839644	rs_71532864	5 SubmittersRCV001797328 RCV005603733 RCV003321872
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)	SNV Germline	Chr4:6289068	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Type 2 diabetes mellitus Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA91794311	rs_372249044	5 SubmittersRCV001806811 RCV001814605 RCV005038334
NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter)	SNV Germline	Chr4:6300975	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356174408	rs_373146435	1 SubmittersRCV001805739
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)	SNV Germline	Chr4:6301344	Conflicting classifications of pathogenicity	Condition: not provided Wolfram syndrome 1 Wolfram-like syndrome Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6	Criteria Provided Conflicting Classifications	CA2839398	rs_371911218	3 SubmittersRCV001902943 RCV002503521 RCV004698355
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)	SNV Germline	Chr4:6291208	Conflicting classifications of pathogenicity	Condition: not provided not specified Wolfram syndrome 1 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2838915	rs_567563179	4 SubmittersRCV001899046 RCV002246586 RCV005038478 RCV005253930
NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser)	SNV Germline	Chr4:6300877	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA356174217	rs_781575919	2 SubmittersRCV002003819 RCV005025594
NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser)	SNV Germline	Chr4:6302160	Conflicting classifications of pathogenicity	Condition: not provided Wolfram-like syndrome Inborn genetic diseases Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA2839702	rs_376974936	5 SubmittersRCV001910518 RCV005051933 RCV002557824 RCV005031892
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter)	SNV Germline	Chr4:6302000	Pathogenic	Wolfram syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356178109	rs_71530911	2 SubmittersRCV003323960 RCV001994853
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)	SNV Germline	Chr4:6301414	Pathogenic/Likely pathogenic	Condition: not provided Cataract 41 Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome	Criteria Provided Multiple Submitters No Conflicts	CA356176298	rs_1335076773	2 SubmittersRCV001951122 RCV002497881
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)	SNV Germline	Chr4:6301353	Pathogenic	Cataract 41 Wolfram syndrome 1 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356175948	rs_377544135	2 SubmittersRCV002507701 RCV001970045
NM_006005.3(WFS1):c.712+1G>T	SNV Germline	Chr4:6291998	Pathogenic/Likely pathogenic	Condition: not provided Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA356172366	rs_1281745640	2 SubmittersRCV001990256 RCV002509127
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter)	SNV Germline	Chr4:6301228	Pathogenic/Likely pathogenic	Wolfram syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2839348	rs_377726402	3 SubmittersRCV002052070 RCV002552343
NM_006005.3(WFS1):c.1506C>T (p.Ser502=)	SNV Germline	Chr4:6301301	Conflicting classifications of pathogenicity	Condition: not provided WFS1-related disorder Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA2839382	rs_773684789	3 SubmittersRCV002140732 RCV004543892 RCV005025714
NM_006005.3(WFS1):c.2612T>G (p.Val871Gly)	SNV Germline	Chr4:6302407	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839804	rs_764211494	4 SubmittersRCV002219519 RCV004584952 RCV005397306
NM_006005.3(WFS1):c.444C>T (p.Cys148=)	SNV Germline	Chr4:6289115	Conflicting classifications of pathogenicity	Condition: not provided Wolfram-like syndrome Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA91794319	rs_998539254	3 SubmittersRCV002180938 RCV002494512
NM_006005.3(WFS1):c.818A>C (p.Glu273Ala)	SNV Germline	Chr4:6295146	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Conflicting Classifications	CA2839069	rs_546948362	3 SubmittersRCV002075957 RCV003033334 RCV004796710
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter)	SNV Germline	Chr4:6301738	Pathogenic/Likely pathogenic	Wolfram syndrome 1 Optic atrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2839553	rs_150465110	4 SubmittersRCV002267791 RCV004816997 RCV005095953
NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg)	SNV Germline	Chr4:6301786	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA356177244	rs_2474195528	2 SubmittersRCV002283617 RCV003096372
NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter)	SNV Unknown	Chr4:6301712	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356177099	rs_2474195328	1 SubmittersRCV002286558
NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter)	SNV Germline	Chr4:6300907	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356174279	rs_1730863609	1 SubmittersRCV002289346
NM_006005.3(WFS1):c.115G>T (p.Glu39Ter)	SNV Unknown	Chr4:6277570	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA2838799	rs_774330485	1 SubmittersRCV002509132
NM_006005.3(WFS1):c.615C>T (p.Gly205=)	SNV Germline	Chr4:6291351	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA91794581	rs_954971844	3 SubmittersRCV002509136 RCV002571569
NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr)	SNV Germline	Chr4:6300894	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA356174253	rs_886059528	2 SubmittersRCV002509844 RCV003689020
NM_006005.3(WFS1):c.873C>T (p.Tyr291=)	SNV Germline	Chr4:6300668	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2839133	rs_777580652	2 SubmittersRCV002509847 RCV002574722
NM_006005.3(WFS1):c.1359C>T (p.Pro453=)	SNV Germline	Chr4:6301154	Conflicting classifications of pathogenicity	Condition: not provided WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 Cataract 41 Wolfram-like syndrome Type 2 diabetes mellitus Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA2839319	rs_781138096	3 SubmittersRCV003073183 RCV004540544 RCV005028216
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)	SNV Germline	Chr4:6291295	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Cataract 41 Wolfram syndrome 1 Wolfram-like syndrome	Criteria Provided Multiple Submitters No Conflicts	CA356172033	rs_1730456165	2 SubmittersRCV002647198 RCV005034785
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)	SNV Germline	Chr4:6301423	Pathogenic/Likely pathogenic	Condition: not provided Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA356176348	rs_1309408215	2 SubmittersRCV002651811 RCV005045372
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)	SNV Germline	Chr4:6291928	Pathogenic/Likely pathogenic	Condition: not provided Wolfram-like syndrome Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA2838985	rs_71530928	2 SubmittersRCV003112160 RCV005036665
NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter)	SNV Unknown	Chr4:6301157	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356174760	rs_1043668392	1 SubmittersRCV003126290
NM_006005.3(WFS1):c.1653C>T (p.Ser551=)	SNV Germline	Chr4:6301448	Conflicting classifications of pathogenicity	Wolfram syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2839430	rs_766730980	3 SubmittersRCV003126403 RCV003883957
NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe)	SNV Germline	Chr4:6301422	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356176343	rs_1310304264	1 SubmittersRCV003223364
NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)	SNV Germline	Chr4:6301303	Conflicting classifications of pathogenicity	Condition: not provided Auditory neuropathy Wolfram syndrome 1 Cataract 41 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA2839384	rs_772993007	3 SubmittersRCV003227243 RCV003483914 RCV005036704
NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys)	SNV Germline	Chr4:6301801	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356177275	rs_1402999203	1 SubmittersRCV003322585
NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter)	SNV Germline	Chr4:6301633	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA2839515	rs_762467865	1 SubmittersRCV003323276
NM_006005.3(WFS1):c.460+1G>C	SNV Germline	Chr4:6289132	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter	CA356171818	rs_1191510461	1 SubmittersRCV003323321
NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)	SNV Germline	Chr4:6301471	Likely pathogenic	Condition: not provided Wolfram syndrome 1	Criteria Provided Single Submitter	CA356176485	rs_773343292	2 SubmittersRCV003555141 RCV003992778
NM_006005.3(WFS1):c.1014C>A (p.Ile338=)	SNV Germline	Chr4:6300809	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Cataract 41 Wolfram syndrome 1	Criteria Provided Conflicting Classifications	CA438367874	rs_748353498	2 SubmittersRCV003727246 RCV005030245
NM_006005.3(WFS1):c.2266C>G (p.Arg756Gly)	SNV Germline	Chr4:6302061	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004698407
NM_006005.3(WFS1):c.2586G>C (p.Lys862Asn)	SNV Germline	Chr4:6302381	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004698408
NM_006005.3(WFS1):c.874C>T (p.Pro292Ser)	SNV Germline	Chr4:6300669	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004789989
NM_006005.3(WFS1):c.2062A>T (p.Ile688Phe)	SNV Germline	Chr4:6301857	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004821214
NM_006005.3(WFS1):c.1420A>C (p.Met474Leu)	SNV Germline	Chr4:6301215	Conflicting classifications of pathogenicity	Wolfram-like syndrome Cataract 41 Type 2 diabetes mellitus Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005039190 RCV005291139
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)	SNV Germline	Chr4:6301864	Likely pathogenic	Wolfram-like syndrome Cataract 41 Type 2 diabetes mellitus Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005040872
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)	SNV Germline	Chr4:6302131	Likely pathogenic	Wolfram-like syndrome Cataract 41 Type 2 diabetes mellitus Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005039222
NM_001008388.5(CISD2):c.109G>T (p.Glu37Ter)	SNV Germline	Chr4:102885221	Likely pathogenic	Wolfram syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005024921
NM_006005.3(WFS1):c.863T>G (p.Val288Gly)	SNV Germline	Chr4:6300658	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005233214
NM_006005.3(WFS1):c.2095A>C (p.Thr699Pro)	SNV Germline	Chr4:6301890	Likely pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005234890
NM_006005.3(WFS1):c.762C>G (p.Tyr254Ter)	SNV Germline	Chr4:6295090	Pathogenic	Wolfram syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005253178

NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln)

SNV
Germline

Chr4:102885221

Pathogenic

Wolfram syndrome 2

No Assertion Criteria Provided

CA114614

rs_63749888

1 SubmittersRCV000000940

NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)

SNV
Germline

Chr4:6301966

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA253184

rs_28937890

5 SubmittersRCV000004767 RCV000756934

NM_006005.3(WFS1):c.2084G>T (p.Gly695Val)

SNV
Germline

Chr4:6301879

Pathogenic/Likely pathogenic

Wolfram syndrome 1
Condition: not provided
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA253186

rs_28937891

3 SubmittersRCV000004768 RCV005089167 RCV005031390

NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)

SNV
Germline

Chr4:6301739

Pathogenic

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253188

rs_104893879

3 SubmittersRCV000004769 RCV003114176

NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)

SNV
Germline

Chr4:6301306

Pathogenic/Likely pathogenic

Wolfram syndrome 1
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Type 2 diabetes mellitus
WFS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253190

rs_28937892

7 SubmittersRCV000004770 RCV002243622 RCV001387727 RCV002496259 RCV004737135

NM_006005.3(WFS1):c.460+1G>A

SNV
Germline

Chr4:6289132

Pathogenic

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356171817

rs_1191510461

3 SubmittersRCV000004773 RCV001588798

NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr4:6291961

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA253192

rs_104893880

2 SubmittersRCV000004774

NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter)

SNV
Germline

Chr4:6302250

Pathogenic

Wolfram syndrome 1

No Assertion Criteria Provided

CA253194

rs_104893881

1 SubmittersRCV000004775

NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)

SNV
Germline

Chr4:6302281

Pathogenic/Likely pathogenic

Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA253199

rs_104893883

7 SubmittersRCV000004779 RCV000726781 RCV001267554 RCV005041982 RCV003155015

NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)

SNV
Germline

Chr4:6302385

Pathogenic/Likely pathogenic

Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Rare genetic deafness
Wolfram syndrome 1
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss
See cases
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116903

rs_74315205

13 SubmittersRCV000004784 RCV000020637 RCV000523215 RCV000599631 RCV001528145 RCV001544536 RCV004794324 RCV004797754 RCV004814826

NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)

SNV
Germline

Chr4:6302371

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram syndrome 1
Type 2 diabetes mellitus
WFS1-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA253207

rs_121912618

7 SubmittersRCV000004787 RCV000480362 RCV002490313 RCV004532289 RCV004814827

NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)

SNV
Germline

Chr4:6301846

Pathogenic/Likely pathogenic

Wolfram-like syndrome
Wolfram syndrome 1
Condition: not provided
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
WFS1-related disorder
Optic atrophy
Rare genetic deafness
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss
WFS1-spectrum disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129328

rs_387906930

24 SubmittersRCV000023514 RCV000023515 RCV000200668 RCV000623116 RCV001542531 RCV002280094 RCV004814922 RCV000605882 RCV004808555 RCV005252698

NM_006005.3(WFS1):c.1185C>T (p.Val395=)

SNV
Germline

Chr4:6300980

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA136330

rs_1801206

13 SubmittersRCV000038635 RCV000344908 RCV000380942 RCV001523397 RCV002463627

NM_006005.3(WFS1):c.1367G>A (p.Arg456His)

SNV
Germline

Chr4:6301162

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA136332

rs_1801208

10 SubmittersRCV000038638 RCV000363867 RCV000269758 RCV001523400 RCV002464096

NM_006005.3(WFS1):c.143C>T (p.Ala48Val)

SNV
Germline

Chr4:6277598

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA136334

rs_397517195

4 SubmittersRCV000038639 RCV000766857 RCV002509035

NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)

SNV
Germline

Chr4:6301290

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Monogenic diabetes
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Optic atrophy
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA282572

rs_114152068

15 SubmittersRCV000038640 RCV000329452 RCV000384013 RCV000664089 RCV000870509 RCV002504898 RCV004814957 RCV002464097

NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)

SNV
Germline

Chr4:6301521

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 6
Monogenic diabetes
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA282576

rs_1805069

12 SubmittersRCV000038643 RCV000307804 RCV000445534 RCV000362526 RCV000755448 RCV002464003

NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu)

SNV
Germline

Chr4:6301615

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA136338

rs_373862003

7 SubmittersRCV000038645 RCV001174424 RCV001588853 RCV002482999 RCV002513506

NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)

SNV
Germline

Chr4:6301681

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided
Monogenic diabetes
Inborn genetic diseases
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA261748

rs_146670741

8 SubmittersRCV000038647 RCV000196272 RCV001174425 RCV002513507 RCV003125863 RCV005031475

NM_006005.3(WFS1):c.2335G>A (p.Val779Met)

SNV
Germline

Chr4:6302130

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Monogenic diabetes
Optic atrophy
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA282584

rs_141328044

15 SubmittersRCV000038657 RCV000300529 RCV000404342 RCV000515097 RCV000664095 RCV004814958 RCV002464005 RCV002496613

NM_006005.3(WFS1):c.2611G>A (p.Val871Met)

SNV
Germline

Chr4:6302406

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Monogenic diabetes
WFS1-Related Spectrum Disorders
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA285655

rs_71532874

18 SubmittersRCV000081342 RCV000342228 RCV000421798 RCV000445441 RCV001156285 RCV002498427 RCV002464106

NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)

SNV
Germline

Chr4:6300819

Conflicting classifications of pathogenicity

Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
not specified
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA231652

rs_148028521

7 SubmittersRCV000118863 RCV001157250 RCV001157249 RCV002509227 RCV000825497 RCV005031615

NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)

SNV
Germline

Chr4:6302247

Conflicting classifications of pathogenicity

not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA289140

rs_35932623

15 SubmittersRCV000118865 RCV000487646 RCV000336052 RCV000987413 RCV000445373 RCV000403034

NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)

SNV
Germline

Chr4:6301089

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Meniere disease

Criteria Provided
Conflicting Classifications

CA295801

rs_35031397

16 SubmittersRCV000155411 RCV000351887 RCV000445544 RCV001157342 RCV000415767 RCV000987408 RCV004567069

NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)

SNV
Germline

Chr4:6301392

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Monogenic diabetes
Condition: not provided
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Inborn genetic diseases
Retinal dystrophy
Optic atrophy
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA232537

rs_146132083

13 SubmittersRCV000155342 RCV001151987 RCV000664090 RCV000724541 RCV004528845 RCV005025204 RCV001151986 RCV002514675 RCV004815194 RCV004815195 RCV004820834

NM_006005.3(WFS1):c.2052G>A (p.Ala684=)

SNV
Germline

Chr4:6301847

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA295578

rs_71539668

11 SubmittersRCV000487609 RCV000152687 RCV001157672 RCV001157673 RCV003126508

NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)

SNV
Germline

Chr4:6302004

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA232844

rs_147834269

8 SubmittersRCV000132656 RCV000155350 RCV000264975 RCV000324875 RCV000490497

NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)

SNV
Germline

Chr4:6295127

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Lymphedema

Criteria Provided
Conflicting Classifications

CA295570

rs_145677667

9 SubmittersRCV000152667 RCV000767003 RCV005031660 RCV005625327

NM_006005.3(WFS1):c.1152C>T (p.Phe384=)

SNV
Germline

Chr4:6300947

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA182616

rs_149846741

9 SubmittersRCV000155338 RCV000733966 RCV001153036 RCV001153037 RCV002509042

NM_006005.3(WFS1):c.1219C>T (p.His407Tyr)

SNV
Germline

Chr4:6301014

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA179639

rs_151244358

5 SubmittersRCV000152670 RCV001308356 RCV002505159 RCV002509252

NM_006005.3(WFS1):c.1392C>T (p.Thr464=)

SNV
Germline

Chr4:6301187

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
WFS1-Related Spectrum Disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179649

rs_565697340

5 SubmittersRCV000152675 RCV001153153 RCV003126546 RCV001153152 RCV001505804

NM_006005.3(WFS1):c.1758C>T (p.Ala586=)

SNV
Germline

Chr4:6301553

Conflicting classifications of pathogenicity

not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA182626

rs_145144527

9 SubmittersRCV000155345 RCV001704130 RCV000272593 RCV003126556 RCV000327617

NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys)

SNV
Germline

Chr4:6301717

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA179659

rs_376626985

3 SubmittersRCV000152683 RCV001857526 RCV005365046

NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)

SNV
Germline

Chr4:6301752

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Retinal dystrophy
WFS1-Related Spectrum Disorders
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA295791

rs_201064551

10 SubmittersRCV000155347 RCV000767006 RCV000677339 RCV000515318 RCV004815243 RCV001152091 RCV004534992

NM_006005.3(WFS1):c.2323T>G (p.Phe775Val)

SNV
Germline

Chr4:6302118

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA179673

rs_727503753

3 SubmittersRCV000152694 RCV003147359 RCV005512709

NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp)

SNV
Germline

Chr4:6302164

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA295582

rs_369107336

3 SubmittersRCV000152697 RCV002056020 RCV003148661

NM_006005.3(WFS1):c.2454C>T (p.Arg818=)

SNV
Germline

Chr4:6302249

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182630

rs_139223980

4 SubmittersRCV000155351 RCV001157875 RCV001157876 RCV003147364 RCV003546482

NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)

SNV
Germline

Chr4:6302391

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA182744

rs_3821945

11 SubmittersRCV000155412 RCV000664098 RCV000871130 RCV000284874 RCV002492587 RCV000376917 RCV002464132

NM_006005.3(WFS1):c.2667G>A (p.Ala889=)

SNV
Germline

Chr4:6302462

Conflicting classifications of pathogenicity

not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA179687

rs_71526454

8 SubmittersRCV000152702 RCV000864405 RCV001157955 RCV001156288 RCV003128231

NM_006005.3(WFS1):c.128C>T (p.Ala43Val)

SNV
Germline

Chr4:6277583

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA179627

rs_727503746

2 SubmittersRCV000152662 RCV002509039

NM_006005.3(WFS1):c.325C>T (p.His109Tyr)

SNV
Germline

Chr4:6288996

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA179631

rs_112871383

8 SubmittersRCV000152664 RCV000664085 RCV000727284 RCV002509041 RCV002516064

NM_006005.3(WFS1):c.654C>T (p.Pro218=)

SNV
Germline

Chr4:6291939

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA183810

rs_727504666

5 SubmittersRCV000155932 RCV001155462 RCV001155461 RCV002056106 RCV002509043 RCV004544445

NM_006005.3(WFS1):c.1237T>G (p.Phe413Val)

SNV
Germline

Chr4:6301032

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA179641

rs_71524356

6 SubmittersRCV000152671 RCV001719944 RCV002509253 RCV002514938 RCV004737235

NM_006005.3(WFS1):c.1743C>T (p.Gly581=)

SNV
Germline

Chr4:6301538

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA179657

rs_377539343

6 SubmittersRCV000152681 RCV000725029 RCV003126550

NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)

SNV
Germline

Chr4:6301587

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182628

rs_140125843

7 SubmittersRCV000155346 RCV001155848 RCV001155849 RCV003126557 RCV001510415

NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg)

SNV
Germline

Chr4:6302088

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA179671

rs_727503752

2 SubmittersRCV000152693 RCV003128187

NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys)

SNV
Germline

Chr4:6302265

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA179683

rs_367547063

6 SubmittersRCV000152700 RCV000726782 RCV003147360 RCV002498721

NM_006005.3(WFS1):c.917T>C (p.Met306Thr)

SNV
Germline

Chr4:6300712

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Monogenic diabetes
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA180501

rs_146114074

12 SubmittersRCV000154149 RCV000312681 RCV000355811 RCV001174388 RCV000870981 RCV002464008

NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)

SNV
Germline

Chr4:6277579

Pathogenic/Likely pathogenic

Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Type 2 diabetes mellitus
Inborn genetic diseases
Meniere disease
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA274502

rs_71530923

16 SubmittersRCV000169684 RCV001536034 RCV001199167 RCV002515205 RCV004567372 RCV004528924 RCV000509458 RCV000514926 RCV002467643

NM_006005.3(WFS1):c.862G>A (p.Val288Met)

SNV
Germline

Chr4:6300657

Conflicting classifications of pathogenicity

not specified
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA236437

rs_71537685

6 SubmittersRCV000171514 RCV004737263 RCV002498858 RCV001303065 RCV004584621

NM_006005.3(WFS1):c.683G>A (p.Arg228His)

SNV
Germline

Chr4:6291968

Conflicting classifications of pathogenicity

Wolfram-like syndrome
not specified
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
WFS1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA246711

rs_150771247

16 SubmittersRCV000023512 RCV000200201 RCV000515386 RCV000724125 RCV001155464 RCV001155463 RCV004537488 RCV004816299

NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)

SNV
Germline

Chr4:6301467

Pathogenic/Likely pathogenic

Wolfram syndrome
not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Diabetes mellitus
Optic atrophy
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Retinal dystrophy
Type 2 diabetes mellitus
WFS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275434

rs_199946797

16 SubmittersRCV000501459 RCV000599628 RCV000255189 RCV000778739 RCV001706152 RCV001175325 RCV004816309 RCV005042394 RCV004816308 RCV003227696 RCV004537507

NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)

SNV
Germline

Chr4:6302175

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA247675

rs_201078003

5 SubmittersRCV000724671 RCV003148665

NM_006005.3(WFS1):c.2181C>T (p.Ile727=)

SNV
Germline

Chr4:6301976

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA247677

rs_140286718

4 SubmittersRCV000180292 RCV003126572

NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg)

SNV
Germline

Chr4:6302058

Likely pathogenic/Likely risk allele

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA276183

rs_797045075

3 SubmittersRCV000191145 RCV001852540

NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)

SNV
Germline

Chr4:6300668

Pathogenic

Wolfram syndrome

Criteria Provided
Single Submitter

CA276989

rs_777580652

1 SubmittersRCV000192573

NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn)

SNV
Germline

Chr4:6301980

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA205181

rs_575778537

3 SubmittersRCV000192394 RCV001504622 RCV005042416

NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)

SNV
Germline

Chr4:6302164

Pathogenic

Wolfram syndrome

Criteria Provided
Single Submitter

CA277064

rs_369107336

1 SubmittersRCV000193050

NM_006005.3(WFS1):c.2424C>T (p.Ser808=)

SNV
Germline

Chr4:6302219

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA208765

rs_56035336

9 SubmittersRCV000194535 RCV000327535 RCV000386848 RCV000727290 RCV003128234 RCV004530151

NM_006005.3(WFS1):c.56C>T (p.Pro19Leu)

SNV
Germline

Chr4:6277511

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA320079

rs_376335216

4 SubmittersRCV001705136 RCV002478695 RCV003126588

NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)

SNV
Germline

Chr4:6277547

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA322377

rs_550975729

4 SubmittersRCV002057034 RCV002509048 RCV004020437

NM_006005.3(WFS1):c.169G>T (p.Ala57Ser)

SNV
Germline

Chr4:6277624

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA320631

rs_372783392

3 SubmittersRCV000196208 RCV001853210 RCV005031737

NM_006005.3(WFS1):c.227G>T (p.Gly76Val)

SNV
Germline

Chr4:6277682

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA322171

rs_200135768

9 SubmittersRCV000197713 RCV000445379 RCV000945649 RCV001151497 RCV001151498 RCV002517278 RCV002509049 RCV004541269

NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)

SNV
Germline

Chr4:6291241

Pathogenic

Condition: not provided
WFS1-related disorder
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA321089

rs_148953711

6 SubmittersRCV000196664 RCV004530178 RCV005031738 RCV004786525

NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)

SNV
Germline

Chr4:6291367

Pathogenic/Likely pathogenic

Condition: not provided
WFS1-related disorder
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Type 2 diabetes mellitus
Cataract 41
Wolfram-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA320894

rs_138682654

5 SubmittersRCV000196477 RCV004737310 RCV004020438 RCV005031739

NM_006005.3(WFS1):c.728C>T (p.Ala243Val)

SNV
Germline

Chr4:6295056

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
not specified
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Inborn genetic diseases
Monogenic diabetes
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA324030

rs_147147660

11 SubmittersRCV000732080 RCV001157140 RCV000825496 RCV001157139 RCV000765775 RCV002517279 RCV001174387 RCV005625437

NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)

SNV
Germline

Chr4:6295145

Conflicting classifications of pathogenicity

not specified
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324907

rs_142428158

4 SubmittersRCV000200344 RCV000765776 RCV000767004

NM_006005.3(WFS1):c.976G>A (p.Ala326Thr)

SNV
Germline

Chr4:6300771

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
Optic atrophy
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA321512

rs_200790641

6 SubmittersRCV002102698 RCV003015247 RCV002509128 RCV004816958 RCV005032159

NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn)

SNV
Germline

Chr4:6300810

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA323935

rs_772392224

4 SubmittersRCV000199397 RCV001853207 RCV002509293

NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn)

SNV
Germline

Chr4:6300930

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA319808

rs_772554352

3 SubmittersRCV000195462 RCV002517273 RCV002509047

NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly)

SNV
Germline

Chr4:6300990

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Type 2 diabetes mellitus
Cataract 41
Wolfram-like syndrome
WFS1-related disorder
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA320196

rs_767561828

6 SubmittersRCV000727080 RCV002500615 RCV004530179 RCV002509294

NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)

SNV
Germline

Chr4:6301030

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA322524

rs_144951440

5 SubmittersRCV000345927 RCV000490282 RCV000825691 RCV000953870 RCV000987407

NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys)

SNV
Germline

Chr4:6301111

Conflicting classifications of pathogenicity

Hearing impairment
Condition: not provided
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA324094

rs_141585847

6 SubmittersRCV001375053 RCV000199551 RCV004530180 RCV005625438 RCV005025322

NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)

SNV
Germline

Chr4:6301166

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
not specified
Hearing impairment
Spastic ataxia
Inborn genetic diseases
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA320009

rs_113446173

14 SubmittersRCV000488089 RCV001153150 RCV001153151 RCV001174421 RCV000765780 RCV000603890 RCV001375054 RCV001640297 RCV004020439 RCV004530181

NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)

SNV
Germline

Chr4:6301302

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA321920

rs_573775230

5 SubmittersRCV001155751 RCV001155752 RCV001722099 RCV003126580 RCV005031734

NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser)

SNV
Germline

Chr4:6301452

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321171

rs_150840308

4 SubmittersRCV000196751 RCV003126581 RCV002515446

NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg)

SNV
Germline

Chr4:6301479

Likely pathogenic/Likely risk allele

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA322818

rs_753237278

2 SubmittersRCV000198315 RCV003126589

NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)

SNV
Germline

Chr4:6301555

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Monogenic diabetes
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Inborn genetic diseases
Type 2 diabetes mellitus
Wolfram syndrome 1
WFS1-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA324347

rs_71539657

12 SubmittersRCV000199802 RCV000726428 RCV000445430 RCV001155846 RCV001155847 RCV002517275 RCV003227712 RCV004737309 RCV004816334

NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp)

SNV
Germline

Chr4:6301574

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA320964

rs_144783536

9 SubmittersRCV000196541 RCV001705134 RCV004020436 RCV003126582 RCV004541267

NM_006005.3(WFS1):c.1801G>A (p.Val601Met)

SNV
Germline

Chr4:6301596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA323280

rs_147838635

4 SubmittersRCV000198752 RCV000728671 RCV003126583

NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)

SNV
Germline

Chr4:6301815

Conflicting classifications of pathogenicity

Condition: not provided
not specified
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Diabetes mellitus
Hearing impairment
Inborn genetic diseases
Wolfram-like syndrome
Retinal dystrophy
Optic atrophy
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA321852

rs_200672755

17 SubmittersRCV000197395 RCV000825499 RCV000625904 RCV001789765 RCV001175319 RCV001375186 RCV002517281 RCV003884394 RCV004816335 RCV004816336 RCV004796093 RCV004530182

NM_006005.3(WFS1):c.2054G>A (p.Arg685His)

SNV
Germline

Chr4:6301849

Conflicting classifications of pathogenicity

Condition: not provided
Hearing impairment
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41

Criteria Provided
Conflicting Classifications

CA322762

rs_142668478

11 SubmittersRCV000513230 RCV001375052 RCV002288800 RCV005042420

NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)

SNV
Germline

Chr4:6301989

Conflicting classifications of pathogenicity

Monogenic diabetes
Type 2 diabetes mellitus
Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA325020

rs_71526458

5 SubmittersRCV000445445 RCV001542532 RCV001857736 RCV002500616

NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)

SNV
Germline

Chr4:6302049

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram-like syndrome
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA319834

rs_201239579

5 SubmittersRCV000195490 RCV001730586 RCV005031741

NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)

SNV
Germline

Chr4:6302142

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41

Criteria Provided
Conflicting Classifications

CA323353

rs_71526461

9 SubmittersRCV000198824 RCV001152302 RCV003147401 RCV001722100 RCV004530177 RCV001152301 RCV002517277 RCV005031736

NM_006005.3(WFS1):c.2453G>A (p.Arg818His)

SNV
Germline

Chr4:6302248

Conflicting classifications of pathogenicity

Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA321767

rs_575851859

4 SubmittersRCV000197313 RCV000300930 RCV000339404 RCV003147402

NM_006005.3(WFS1):c.2603G>A (p.Arg868His)

SNV
Germline

Chr4:6302398

Conflicting classifications of pathogenicity

Condition: not provided
Autistic behavior
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Inborn genetic diseases
not specified
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41

Criteria Provided
Conflicting Classifications

CA324220

rs_56393026

12 SubmittersRCV000199675 RCV000502304 RCV001156283 RCV001156284 RCV002517282 RCV004782306 RCV004786526 RCV002485311

NM_006005.3(WFS1):c.375C>T (p.Thr125=)

SNV
Germline

Chr4:6289046

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838875

rs_762324196

5 SubmittersRCV000213245 RCV002057162 RCV001155341 RCV001155342 RCV002509053

NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)

SNV
Germline

Chr4:6300786

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Cataract 41
Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2839183

rs_144888979

6 SubmittersRCV000220517 RCV001325067 RCV002485411 RCV002509310 RCV004020642

NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)

SNV
Germline

Chr4:6300832

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839198

rs_773900146

6 SubmittersRCV000221182 RCV001291575 RCV005025353 RCV002288843

NM_006005.3(WFS1):c.1290G>A (p.Ser430=)

SNV
Germline

Chr4:6301085

Conflicting classifications of pathogenicity

not specified
Nonsyndromic Hearing Loss, Dominant
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839297

rs_752100338

4 SubmittersRCV000223036 RCV000404067 RCV000311096 RCV001853422 RCV003126607

NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile)

SNV
Germline

Chr4:6301177

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10576638

rs_71530925

2 SubmittersRCV000217826 RCV003126610

NM_006005.3(WFS1):c.1399C>T (p.Leu467=)

SNV
Germline

Chr4:6301194

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839334

rs_142700542

5 SubmittersRCV000216086 RCV001153154 RCV000945710 RCV001153155 RCV003150109

NM_006005.3(WFS1):c.2250C>T (p.Ala750=)

SNV
Germline

Chr4:6302045

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2839661

rs_369498603

11 SubmittersRCV000220143 RCV000993558 RCV003128239 RCV004532750 RCV001156085 RCV001156086

NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)

SNV
Germline

Chr4:6302201

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA2839724

rs_201102144

5 SubmittersRCV000216669 RCV002057181 RCV005031791 RCV004821279

NM_006005.3(WFS1):c.169G>A (p.Ala57Thr)

SNV
Germline

Chr4:6277624

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2838810

rs_372783392

5 SubmittersRCV000238677 RCV002509055 RCV002479950 RCV001857836

NM_006005.3(WFS1):c.2623G>A (p.Val875Met)

SNV
Germline

Chr4:6302418

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2839810

rs_547459104

3 SubmittersRCV000249383 RCV003126656 RCV005090262

NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr)

SNV
Germline

Chr4:6302415

Conflicting classifications of pathogenicity

Condition: not provided
Type 2 diabetes mellitus
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA2839807

rs_200775335

6 SubmittersRCV000312654 RCV002480014 RCV004584656

NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)

SNV
Germline

Chr4:6301917

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
Wolfram-like syndrome
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Inborn genetic diseases
WFS1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2839605

rs_200099217

9 SubmittersRCV000585352 RCV000445375 RCV002494843 RCV004021170 RCV004535338 RCV004816498

NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)

SNV
Germline

Chr4:6301834

Conflicting classifications of pathogenicity

not specified
Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Wolfram syndrome 1
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA2839581

rs_144840779

8 SubmittersRCV000354766 RCV000664092 RCV000725856 RCV003126663 RCV002467719 RCV004543084

NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr)

SNV
Germline

Chr4:6302344

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839773

rs_748404777

3 SubmittersRCV000377710 RCV003147443

NM_006005.3(WFS1):c.975C>T (p.Asn325=)

SNV
Germline

Chr4:6300770

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839177

rs_141177727

4 SubmittersRCV000304909 RCV000726076 RCV002509056

NM_006005.3(WFS1):c.1871T>C (p.Val624Ala)

SNV
Germline

Chr4:6301666

Conflicting classifications of pathogenicity

Condition: not provided
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA2839529

rs_747477628

4 SubmittersRCV000280969 RCV001152089 RCV001152090 RCV005031869

NM_006005.3(WFS1):c.114C>T (p.Ser38=)

SNV
Germline

Chr4:6277569

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838798

rs_531593902

5 SubmittersRCV000302883 RCV000878611 RCV001156918 RCV001156919 RCV002509057

NM_006005.3(WFS1):c.1416C>A (p.Pro472=)

SNV
Germline

Chr4:6301211

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839341

rs_530734300

3 SubmittersRCV000312475 RCV003126666

NM_006005.3(WFS1):c.-129A>G

SNV
Germline

Chr4:6269891

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10618100

rs_886059522

2 SubmittersRCV000368062 RCV000311162 RCV002465629

NM_006005.3(WFS1):c.2436C>T (p.Ser812=)

SNV
Germline

Chr4:6302231

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839736

rs_142630687

5 SubmittersRCV000278650 RCV000388081 RCV000842423 RCV003147449

NM_006005.3(WFS1):c.2481C>T (p.Thr827=)

SNV
Germline

Chr4:6302276

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10618107

rs_886059532

3 SubmittersRCV000364583 RCV000307840 RCV002057941 RCV003147450

NM_006005.3(WFS1):c.1311C>T (p.Gly437=)

SNV
Germline

Chr4:6301106

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10619003

rs_886059529

2 SubmittersRCV000303795 RCV000358560 RCV003126692

NM_006005.3(WFS1):c.1333C>G (p.Leu445Val)

SNV
Germline

Chr4:6301128

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2839313

rs_764932308

7 SubmittersRCV000268583 RCV000323738 RCV001795968 RCV003126693 RCV004816596

NM_006005.3(WFS1):c.2340C>A (p.Gly780=)

SNV
Germline

Chr4:6302135

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10619010

rs_886059531

2 SubmittersRCV000265146 RCV000355409 RCV003147448

NM_006005.3(WFS1):c.*506C>T

SNV
Germline

Chr4:6302974

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10619022

rs_886059536

2 SubmittersRCV000272626 RCV000383357 RCV003126706

NM_006005.3(WFS1):c.-130C>T

SNV
Germline

Chr4:6269890

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10621427

rs_576284630

3 SubmittersRCV000277097 RCV000369984 RCV002465628 RCV002263626

NM_006005.3(WFS1):c.-105T>G

SNV
Germline

Chr4:6269915

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621428

rs_886059523

2 SubmittersRCV000260447 RCV000371417 RCV002465631

NM_006005.3(WFS1):c.132C>T (p.Pro44=)

SNV
Germline

Chr4:6277587

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2838805

rs_754346893

3 SubmittersRCV000267799 RCV000320494 RCV002509060 RCV003546544

NM_006005.3(WFS1):c.168C>T (p.Asp56=)

SNV
Germline

Chr4:6277623

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838809

rs_112598170

3 SubmittersRCV000871785 RCV000271264 RCV000358930 RCV002509061

NM_006005.3(WFS1):c.2157C>T (p.Ala719=)

SNV
Germline

Chr4:6301952

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621440

rs_766900991

3 SubmittersRCV000353840 RCV000916957 RCV000298215 RCV003126694

NM_006005.3(WFS1):c.*258A>G

SNV
Germline

Chr4:6302726

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621444

rs_886059533

2 SubmittersRCV000288853 RCV000346119 RCV003126698

NM_006005.3(WFS1):c.*520G>A

SNV
Germline

Chr4:6302988

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621458

rs_573433508

2 SubmittersRCV000294472 RCV000351770 RCV003126708

NM_006005.3(WFS1):c.-141A>G

SNV
Germline

Chr4:6269879

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10621460

rs_373287522

3 SubmittersRCV000309275 RCV000347836 RCV002465626 RCV003437109

NM_006005.3(WFS1):c.*700C>A

SNV
Germline

Chr4:6303168

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621462

rs_528424908

2 SubmittersRCV000316482 RCV000373505 RCV003126715

NM_006005.3(WFS1):c.-133G>T

SNV
Germline

Chr4:6269887

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621467

rs_886059521

2 SubmittersRCV000308356 RCV000397359 RCV002465627

NM_006005.3(WFS1):c.-106A>G

SNV
Germline

Chr4:6269914

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621468

rs_868329184

2 SubmittersRCV000261786 RCV000319102 RCV002465630

NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)

SNV
Germline

Chr4:6277483

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
not specified
Wolfram syndrome 1
Condition: not provided
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1
Cataract 41

Criteria Provided
Conflicting Classifications

CA2838778

rs_760256649

6 SubmittersRCV000295015 RCV000348875 RCV002248624 RCV002508932 RCV003546543 RCV003227746 RCV005033883

NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)

SNV
Germline

Chr4:6301634

Pathogenic

WFS1-Related Spectrum Disorders
Diabetes mellitus
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1
Cataract 41

Criteria Provided
Multiple Submitters
No Conflicts

CA2839516

rs_143064649

5 SubmittersRCV000285512 RCV001175324 RCV001861234 RCV002502346

NM_006005.3(WFS1):c.*526A>C

SNV
Germline

Chr4:6302994

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621491

rs_886059537

2 SubmittersRCV000279361 RCV000371638 RCV003126709

NM_006005.3(WFS1):c.*605T>C

SNV
Germline

Chr4:6303073

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621499

rs_886059538

2 SubmittersRCV000305800 RCV000403148 RCV003126711

NM_006005.3(WFS1):c.*654G>A

SNV
Germline

Chr4:6303122

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA10621500

rs_886059539

2 SubmittersRCV000309170 RCV000366224 RCV003126713

NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)

SNV
Germline

Chr4:6289047

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram syndrome 1
Optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2838877

rs_145639028

6 SubmittersRCV000413912 RCV002469144 RCV004816642

NM_006005.3(WFS1):c.2191A>G (p.Met731Val)

SNV
Germline

Chr4:6301986

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA2839640

rs_144010362

4 SubmittersRCV000415192 RCV002521464 RCV005033949

NM_006005.3(WFS1):c.231C>T (p.Thr77=)

SNV
Germline

Chr4:6277686

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838823

rs_372609400

3 SubmittersRCV001721437 RCV002509068

NM_006005.3(WFS1):c.172G>A (p.Ala58Thr)

SNV
Unknown

Chr4:6277627

Conflicting classifications of pathogenicity

Monogenic diabetes
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA16609249

rs_1057524887

3 SubmittersRCV000445526 RCV002509070 RCV002488989

NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)

SNV
Germline

Chr4:6291932

Conflicting classifications of pathogenicity

Monogenic diabetes
not specified
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838986

rs_141233896

7 SubmittersRCV000445466 RCV000518948 RCV000766821 RCV002509072 RCV005033961

NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)

SNV
Germline

Chr4:6301060

Conflicting classifications of pathogenicity

Monogenic diabetes
not specified
WFS1-Related Spectrum Disorders
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
WFS1-related disorder
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA2839291

rs_150368988

12 SubmittersRCV000445460 RCV000825498 RCV001157340 RCV000993556 RCV001157339 RCV002509384 RCV004737491 RCV005033962

NM_006005.3(WFS1):c.1896G>T (p.Met632Ile)

SNV
Germline

Chr4:6301691

Conflicting classifications of pathogenicity

Monogenic diabetes
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA16609253

rs_1057524890

3 SubmittersRCV000445427 RCV001851112 RCV003128192

NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)

SNV
Germline

Chr4:6301848

Conflicting classifications of pathogenicity

Monogenic diabetes
Condition: not provided
Wolfram syndrome 1
Meniere disease
Optic atrophy
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA2839583

rs_112967046

10 SubmittersRCV000445499 RCV001351930 RCV002250628 RCV004567928 RCV004816668 RCV004529580 RCV004668975 RCV005033963

NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)

SNV
Germline

Chr4:6291341

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram syndrome 1
Optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16618051

rs_1064794257

5 SubmittersRCV000486801 RCV002469171 RCV004816689

NM_006005.3(WFS1):c.1673G>A (p.Arg558His)

SNV
Germline

Chr4:6301468

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Optic atrophy
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2839440

rs_774265764

9 SubmittersRCV000489883 RCV004678726 RCV004772936 RCV004527597 RCV004698343 RCV004816720 RCV002489199 RCV004017644

NM_006005.3(WFS1):c.2027G>A (p.Arg676His)

SNV
Germline

Chr4:6301822

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41

Criteria Provided
Conflicting Classifications

CA2839577

rs_143055296

4 SubmittersRCV000490173 RCV005034027

NM_006005.3(WFS1):c.2061G>C (p.Gln687His)

SNV
Germline

Chr4:6301856

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41

Criteria Provided
Conflicting Classifications

CA2839587

rs_760938537

3 SubmittersRCV000490103 RCV005034030

NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)

SNV
Germline

Chr4:6300877

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2839213

rs_781575919

3 SubmittersRCV000493450 RCV005034035

NM_006005.3(WFS1):c.1607T>A (p.Val536Glu)

SNV
Germline

Chr4:6301402

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356176227

rs_1553878625

3 SubmittersRCV000498432 RCV003126759

NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)

SNV
Germline

Chr4:6301984

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2839638

rs_760171298

3 SubmittersRCV000498226 RCV003126758

NM_006005.3(WFS1):c.966C>T (p.His322=)

SNV
Germline

Chr4:6300761

Conflicting classifications of pathogenicity

not specified
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA2839172

rs_140196582

6 SubmittersRCV000499529 RCV000951748 RCV001155563 RCV002509076 RCV001155564 RCV004535626

NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)

SNV
Germline

Chr4:6302449

Pathogenic/Likely pathogenic

Wolfram syndrome
Wolfram-like syndrome
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Multiple Submitters
No Conflicts

CA2839823

rs_372855769

7 SubmittersRCV000503566 RCV001849390 RCV002506232 RCV003233655 RCV001857186 RCV003335435

NM_006005.3(WFS1):c.2540G>A (p.Cys847Tyr)

SNV
Germline

Chr4:6302335

Conflicting classifications of pathogenicity

Autistic behavior
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356179170

rs_1394576939

4 SubmittersRCV000500223 RCV000519327 RCV003147488

NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)

SNV
Germline

Chr4:6301519

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41

Criteria Provided
Conflicting Classifications

CA2839458

rs_71524360

4 SubmittersRCV000506948 RCV000765784

NM_006005.3(WFS1):c.1467C>G (p.Ile489Met)

SNV
Germline

Chr4:6301262

Conflicting classifications of pathogenicity

Condition: not provided
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839365

rs_768029820

5 SubmittersRCV000520862 RCV001198043 RCV005034069 RCV003126789

NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)

SNV
Germline

Chr4:6301944

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41

Criteria Provided
Conflicting Classifications

CA2839622

rs_71532863

4 SubmittersRCV000518926 RCV002490902

NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter)

SNV
Germline

Chr4:6302395

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA356179417

rs_1553879087

2 SubmittersRCV000518978 RCV003147503

NM_006005.3(WFS1):c.1536C>T (p.Leu512=)

SNV
Germline

Chr4:6301331

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA438368488

rs_199728640

2 SubmittersRCV000596732 RCV003126840

NM_006005.3(WFS1):c.726C>T (p.Ile242=)

SNV
Germline

Chr4:6295054

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839039

rs_71524381

6 SubmittersRCV000727378 RCV002509460

NM_006005.3(WFS1):c.436C>T (p.Arg146Cys)

SNV
Germline

Chr4:6289107

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356171734

rs_1553876694

2 SubmittersRCV000612852 RCV002509085

NM_006005.3(WFS1):c.754A>G (p.Lys252Glu)

SNV
Germline

Chr4:6295082

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356172467

rs_1553877330

2 SubmittersRCV000612590 RCV002509466

NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)

SNV
Germline

Chr4:6295120

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2839056

rs_373669861

7 SubmittersRCV000612750 RCV002509080 RCV004530733 RCV005034186 RCV002532737

NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala)

SNV
Germline

Chr4:6301263

Conflicting classifications of pathogenicity

Wolfram syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA356175084

rs_1553878548

2 SubmittersRCV003126843 RCV000614284

NM_006005.3(WFS1):c.2516T>C (p.Val839Ala)

SNV
Germline

Chr4:6302311

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839760

rs_761114952

4 SubmittersRCV000606633 RCV002529322 RCV003147519

NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)

SNV
Germline

Chr4:6277580

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838801

rs_750806151

4 SubmittersRCV000599723 RCV001860339 RCV003126870

NM_006005.3(WFS1):c.1706C>T (p.Ala569Val)

SNV
Germline

Chr4:6301501

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Wolfram syndrome 1
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839455

rs_144492050

7 SubmittersRCV000615776 RCV001366053 RCV002532738 RCV003126842 RCV004737882 RCV005034188

NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)

SNV
Germline

Chr4:6302184

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss
Optic atrophy
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356178487

rs_1553879004

11 SubmittersRCV000616575 RCV001092549 RCV004533263 RCV004794421 RCV004817822 RCV003148806

NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu)

SNV
Germline

Chr4:6302225

Conflicting classifications of pathogenicity

not specified
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356178567

rs_1553879021

2 SubmittersRCV000615392 RCV003128249

NM_006005.3(WFS1):c.-4C>T

SNV
Germline

Chr4:6277452

Conflicting classifications of pathogenicity

Wolfram syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA2838775

rs_746340627

2 SubmittersRCV002472311 RCV000608618

NM_006005.3(WFS1):c.985T>A (p.Phe329Ile)

SNV
Germline

Chr4:6300780

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41

Criteria Provided
Conflicting Classifications

CA2839181

rs_188848517

5 SubmittersRCV000609447 RCV001155565 RCV001155566 RCV001558737 RCV005034187

NM_006005.3(WFS1):c.1769C>T (p.Thr590Met)

SNV
Germline

Chr4:6301564

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA2839483

rs_760280308

3 SubmittersRCV002529336 RCV003126844 RCV000608372

NM_006005.3(WFS1):c.1656C>T (p.Thr552=)

SNV
Germline

Chr4:6301451

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839431

rs_141477172

5 SubmittersRCV001151988 RCV001151989 RCV001718966 RCV003126866

NM_006005.3(WFS1):c.345C>T (p.Gly115=)

SNV
Germline

Chr4:6289016

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838869

rs_200385504

4 SubmittersRCV001155339 RCV001155340 RCV001722603 RCV002509081

NM_006005.3(WFS1):c.2208C>T (p.Gly736=)

SNV
Germline

Chr4:6302003

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA2839645

rs_141020933

6 SubmittersRCV001153484 RCV001153485 RCV001704817 RCV003126869 RCV004544798

NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)

SNV
Germline

Chr4:6289001

Pathogenic

Type 2 diabetes mellitus
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA356171265

rs_1553876668

2 SubmittersRCV000626276 RCV002509088

NM_006005.3(WFS1):c.1181A>T (p.Glu394Val)

SNV
Germline

Chr4:6300976

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia
WFS1-related disorder
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA2839247

rs_146563951

6 SubmittersRCV000657864 RCV001644744 RCV004737937 RCV005027770

NM_006005.3(WFS1):c.977C>T (p.Ala326Val)

SNV
Germline

Chr4:6300772

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839178

rs_369795224

7 SubmittersRCV000727902 RCV004788150 RCV005036043

NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)

SNV
Germline

Chr4:6277609

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Wolfram syndrome 1
Type 2 diabetes mellitus
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA2838807

rs_111773340

7 SubmittersRCV000729050 RCV002509089 RCV005036054

NM_006005.3(WFS1):c.2201T>A (p.Leu734His)

SNV
Germline

Chr4:6301996

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356178091

rs_1409267086

2 SubmittersRCV000729131 RCV003126923

NM_006005.3(WFS1):c.498C>G (p.Leu166=)

SNV
Germline

Chr4:6291234

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838921

rs_758731318

3 SubmittersRCV000730089 RCV002509090

NM_006005.3(WFS1):c.1149C>T (p.Arg383=)

SNV
Germline

Chr4:6300944

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA438368115

rs_1560418384

2 SubmittersRCV000730231 RCV002509091

NM_001008388.5(CISD2):c.103+1G>A

SNV
Germline

Chr4:102869188

Pathogenic

Wolfram syndrome 2

No Assertion Criteria Provided

CA357760380

rs_1578307302

1 SubmittersRCV000790904

NM_006005.3(WFS1):c.1695C>T (p.Leu565=)

SNV
Germline

Chr4:6301490

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839450

rs_755736687

3 SubmittersRCV000951873 RCV003127555

NM_006005.3(WFS1):c.772G>A (p.Val258Ile)

SNV
Germline

Chr4:6295100

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839047

rs_757414862

3 SubmittersRCV000908039 RCV002509110

NM_006005.3(WFS1):c.1263C>T (p.Ile421=)

SNV
Germline

Chr4:6301058

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
WFS1-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2839288

rs_748103155

4 SubmittersRCV002509582 RCV001155664 RCV000939866 RCV001155665

NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)

SNV
Germline

Chr4:6301802

Pathogenic/Likely pathogenic

Wolfram syndrome 1
WFS1-Related Spectrum Disorders
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA356177277

rs_1443751733

6 SubmittersRCV000987412 RCV002221595 RCV002479153 RCV001858665 RCV002252279

NM_006005.3(WFS1):c.529C>T (p.Arg177Cys)

SNV
Germline

Chr4:6291265

Conflicting classifications of pathogenicity

Condition: not provided
WFS1-related disorder
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91794574

rs_760631912

5 SubmittersRCV000998213 RCV004738111 RCV002509116

NM_006005.3(WFS1):c.861+2T>C

SNV
Germline

Chr4:6295191

Pathogenic

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA356172692

rs_1730600472

2 SubmittersRCV001092545 RCV004527413

NM_006005.3(WFS1):c.-148G>T

SNV
Germline

Chr4:6269872

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91777900

rs_542977017

2 SubmittersRCV001155155 RCV001155156 RCV002465835

NM_006005.3(WFS1):c.-127A>G

SNV
Germline

Chr4:6269893

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91777976

rs_542116747

2 SubmittersRCV001156812 RCV001156813 RCV002465836

NM_006005.3(WFS1):c.-93G>C

SNV
Germline

Chr4:6269927

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA1139658433

rs_1729749153

2 SubmittersRCV001151387 RCV001151388 RCV002465833

NM_006005.3(WFS1):c.-43G>C

SNV
Germline

Chr4:6269977

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA1139658434

rs_1578579501

3 SubmittersRCV001151390 RCV001882467 RCV001151389 RCV002465834

NM_006005.3(WFS1):c.232G>A (p.Gly78Arg)

SNV
Germline

Chr4:6277687

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
not specified
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91787597

rs_777964510

5 SubmittersRCV001151499 RCV001151500 RCV004587052 RCV001882469 RCV003127651

NM_006005.3(WFS1):c.445T>C (p.Leu149=)

SNV
Germline

Chr4:6289116

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA438210874

rs_1730394064

2 SubmittersRCV001157027 RCV001157026 RCV002509120

NM_006005.3(WFS1):c.504C>T (p.Ser168=)

SNV
Germline

Chr4:6291240

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2838922

rs_71537675

4 SubmittersRCV001502896 RCV002509119 RCV001154625 RCV001154626

NM_006005.3(WFS1):c.695G>A (p.Arg232His)

SNV
Germline

Chr4:6291980

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA2838997

rs_375904080

5 SubmittersRCV001157137 RCV001157138 RCV002032453 RCV002509121 RCV005438058

NM_006005.3(WFS1):c.804C>T (p.Asp268=)

SNV
Germline

Chr4:6295132

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839063

rs_199741678

4 SubmittersRCV001157142 RCV001157141 RCV001759913 RCV002509122

NM_006005.3(WFS1):c.1509C>T (p.Val503=)

SNV
Germline

Chr4:6301304

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA438368402

rs_1267751619

2 SubmittersRCV001155753 RCV001157456 RCV003127663

NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)

SNV
Germline

Chr4:6301375

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
WFS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2839408

rs_372663248

6 SubmittersRCV001157461 RCV001157460 RCV002070938 RCV003127668 RCV005029732 RCV004528398 RCV004032829

NM_006005.3(WFS1):c.1986C>T (p.Ser662=)

SNV
Germline

Chr4:6301781

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91796740

rs_1055393876

2 SubmittersRCV001153355 RCV001153356 RCV003127656

NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser)

SNV
Germline

Chr4:6301806

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839572

rs_763020615

4 SubmittersRCV001153359 RCV001153360 RCV001560362 RCV003127657

NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)

SNV
Germline

Chr4:6302041

Conflicting classifications of pathogenicity

not specified
WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1
Condition: not provided
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839658

rs_199769524

6 SubmittersRCV005419012 RCV001156083 RCV001156084 RCV002491451 RCV002558354 RCV003127665

NM_006005.3(WFS1):c.2514T>C (p.Pro838=)

SNV
Germline

Chr4:6302309

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
WFS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2839758

rs_773643250

4 SubmittersRCV001152405 RCV001152404 RCV003147593 RCV004738168 RCV002558325

NM_006005.3(WFS1):c.2664G>A (p.Ser888=)

SNV
Germline

Chr4:6302459

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
Condition: not provided
Wolfram syndrome 1
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
not specified

Criteria Provided
Conflicting Classifications

CA2839825

rs_756116434

6 SubmittersRCV001156286 RCV002032442 RCV003128314 RCV001156287 RCV002483899 RCV005437007

NM_006005.3(WFS1):c.*11C>G

SNV
Germline

Chr4:6302479

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91797957

rs_919707549

2 SubmittersRCV001157956 RCV001157957 RCV003128378

NM_006005.3(WFS1):c.*14C>T

SNV
Germline

Chr4:6302482

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2839836

rs_775493668

3 SubmittersRCV001157959 RCV001157958 RCV003128315 RCV004720075

NM_006005.3(WFS1):c.*37C>A

SNV
Germline

Chr4:6302505

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA549708064

rs_1312854010

2 SubmittersRCV001157961 RCV001157960 RCV003128379

NM_006005.3(WFS1):c.*158G>A

SNV
Germline

Chr4:6302626

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91798153

rs_548892128

2 SubmittersRCV001156396 RCV001156397 RCV003127666

NM_006005.3(WFS1):c.*223C>G

SNV
Germline

Chr4:6302691

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91798187

rs_905909594

2 SubmittersRCV001156398 RCV001158066 RCV003127667

NM_006005.3(WFS1):c.*260G>C

SNV
Germline

Chr4:6302728

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91798210

rs_71530909

2 SubmittersRCV001152598 RCV001152597 RCV003127653

NM_006005.3(WFS1):c.*300A>G

SNV
Germline

Chr4:6302768

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91798237

rs_541125786

2 SubmittersRCV001153880 RCV001153881 RCV003127658

NM_006005.3(WFS1):c.*448A>T

SNV
Germline

Chr4:6302916

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91798312

rs_113513950

2 SubmittersRCV001153884 RCV001154727 RCV003127660

NM_006005.3(WFS1):c.*455A>G

SNV
Germline

Chr4:6302923

Conflicting classifications of pathogenicity

WFS1-Related Spectrum Disorders
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91798322

rs_756674774

2 SubmittersRCV001154729 RCV001154728 RCV003127662

NM_006005.3(WFS1):c.*656C>T

SNV
Germline

Chr4:6303124

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91798498

rs_772538455

2 SubmittersRCV001153981 RCV001153982 RCV003127661

NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)

SNV
Germline

Chr4:6295145

Pathogenic

Diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Condition: not provided
WFS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2839068

rs_142428158

4 SubmittersRCV001175321 RCV002497609 RCV001875777 RCV004738178

NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)

SNV
Germline

Chr4:6301415

Pathogenic

Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA91796398

rs_1038816435

2 SubmittersRCV001195287

NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr)

SNV
Germline

Chr4:6302200

Conflicting classifications of pathogenicity

Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356178521

rs_1730963697

2 SubmittersRCV001253644 RCV003148959

NM_006005.3(WFS1):c.320G>A (p.Gly107Glu)

SNV
Unknown

Chr4:6288991

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA91794306

rs_71530914

1 SubmittersRCV001262572

NM_006005.3(WFS1):c.412C>T (p.Arg138Cys)

SNV
Germline

Chr4:6289083

Conflicting classifications of pathogenicity

Condition: not provided
WFS1-related disorder
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838886

rs_780394696

5 SubmittersRCV001296231 RCV004738232 RCV002509124

NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)

SNV
Germline

Chr4:6300891

Pathogenic/Likely pathogenic

Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2839217

rs_761320763

5 SubmittersRCV001310826 RCV002499595

NM_006005.3(WFS1):c.1291G>C (p.Glu431Gln)

SNV
Unknown

Chr4:6301086

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356174621

rs_2109125661

1 SubmittersRCV001647212

NM_006005.3(WFS1):c.1523A>G (p.Tyr508Cys)

SNV
Germline

Chr4:6301318

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA356175816

rs_1477371498

3 SubmittersRCV001647213 RCV001859246

NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter)

SNV
Germline

Chr4:6302458

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA356179808

rs_547089139

2 SubmittersRCV001730050 RCV004040016

NM_006005.3(WFS1):c.1623T>G (p.Cys541Trp)

SNV
Germline

Chr4:6301418

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2839422

rs_745712429

3 SubmittersRCV001350530 RCV003127829 RCV003284244

NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg)

SNV
Germline

Chr4:6302227

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA2839734

rs_557048986

4 SubmittersRCV001504964 RCV003346586 RCV005038242

NM_006005.3(WFS1):c.1148G>A (p.Arg383His)

SNV
Germline

Chr4:6300943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839237

rs_369450642

7 SubmittersRCV001519101 RCV002501816 RCV004789643

NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)

SNV
Germline

Chr4:6277531

Pathogenic

Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2838791

rs_747658523

3 SubmittersRCV001535831 RCV004690112

NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)

SNV
Germline

Chr4:6301751

Pathogenic

Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356177173

rs_772357412

2 SubmittersRCV001535945 RCV003708603

NM_006005.3(WFS1):c.1309G>C (p.Gly437Arg)

SNV
Germline

Chr4:6301104

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2839306

rs_147974629

2 SubmittersRCV001564069 RCV004785280

NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)

SNV
Germline

Chr4:6301744

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA2839556

rs_765322804

3 SubmittersRCV001592475 RCV002477860

NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)

SNV
Germline

Chr4:6289058

Pathogenic/Likely pathogenic

Wolfram syndrome 1
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA2838879

rs_764993824

3 SubmittersRCV001667855 RCV005094881 RCV002496000

NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter)

SNV
Germline

Chr4:6301756

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356177180

rs_1189512943

1 SubmittersRCV001667856

NM_006005.3(WFS1):c.2197T>G (p.Cys733Gly)

SNV
Germline

Chr4:6301992

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356178081

rs_2109127192

1 SubmittersRCV001667857

NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys)

SNV
Germline

Chr4:6301902

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2839602

rs_201888856

6 SubmittersRCV001730049 RCV005038283 RCV005520557 RCV002538697

NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr)

SNV
Germline

Chr4:6300883

Likely pathogenic

Wolfram syndrome 1

No Assertion Criteria Provided

CA356174225

rs_1386447227

1 SubmittersRCV001789842

NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)

SNV
Germline

Chr4:6302001

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2839644

rs_71532864

5 SubmittersRCV001797328 RCV005603733 RCV003321872

NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)

SNV
Germline

Chr4:6289068

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA91794311

rs_372249044

5 SubmittersRCV001806811 RCV001814605 RCV005038334

NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter)

SNV
Germline

Chr4:6300975

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356174408

rs_373146435

1 SubmittersRCV001805739

NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys)

SNV
Germline

Chr4:6301344

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6

Criteria Provided
Conflicting Classifications

CA2839398

rs_371911218

3 SubmittersRCV001902943 RCV002503521 RCV004698355

NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)

SNV
Germline

Chr4:6291208

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wolfram syndrome 1
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2838915

rs_567563179

4 SubmittersRCV001899046 RCV002246586 RCV005038478 RCV005253930

NM_006005.3(WFS1):c.1082C>G (p.Thr361Ser)

SNV
Germline

Chr4:6300877

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA356174217

rs_781575919

2 SubmittersRCV002003819 RCV005025594

NM_006005.3(WFS1):c.2365G>A (p.Gly789Ser)

SNV
Germline

Chr4:6302160

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram-like syndrome
Inborn genetic diseases
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA2839702

rs_376974936

5 SubmittersRCV001910518 RCV005051933 RCV002557824 RCV005031892

NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter)

SNV
Germline

Chr4:6302000

Pathogenic

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356178109

rs_71530911

2 SubmittersRCV003323960 RCV001994853

NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)

SNV
Germline

Chr4:6301414

Pathogenic/Likely pathogenic

Condition: not provided
Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356176298

rs_1335076773

2 SubmittersRCV001951122 RCV002497881

NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)

SNV
Germline

Chr4:6301353

Pathogenic

Cataract 41
Wolfram syndrome 1
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356175948

rs_377544135

2 SubmittersRCV002507701 RCV001970045

NM_006005.3(WFS1):c.712+1G>T

SNV
Germline

Chr4:6291998

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA356172366

rs_1281745640

2 SubmittersRCV001990256 RCV002509127

NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter)

SNV
Germline

Chr4:6301228

Pathogenic/Likely pathogenic

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2839348

rs_377726402

3 SubmittersRCV002052070 RCV002552343

NM_006005.3(WFS1):c.1506C>T (p.Ser502=)

SNV
Germline

Chr4:6301301

Conflicting classifications of pathogenicity

Condition: not provided
WFS1-related disorder
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA2839382

rs_773684789

3 SubmittersRCV002140732 RCV004543892 RCV005025714

NM_006005.3(WFS1):c.2612T>G (p.Val871Gly)

SNV
Germline

Chr4:6302407

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839804

rs_764211494

4 SubmittersRCV002219519 RCV004584952 RCV005397306

NM_006005.3(WFS1):c.444C>T (p.Cys148=)

SNV
Germline

Chr4:6289115

Conflicting classifications of pathogenicity

Condition: not provided
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA91794319

rs_998539254

3 SubmittersRCV002180938 RCV002494512

NM_006005.3(WFS1):c.818A>C (p.Glu273Ala)

SNV
Germline

Chr4:6295146

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Conflicting Classifications

CA2839069

rs_546948362

3 SubmittersRCV002075957 RCV003033334 RCV004796710

NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter)

SNV
Germline

Chr4:6301738

Pathogenic/Likely pathogenic

Wolfram syndrome 1
Optic atrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2839553

rs_150465110

4 SubmittersRCV002267791 RCV004816997 RCV005095953

NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg)

SNV
Germline

Chr4:6301786

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA356177244

rs_2474195528

2 SubmittersRCV002283617 RCV003096372

NM_006005.3(WFS1):c.1917G>A (p.Trp639Ter)

SNV
Unknown

Chr4:6301712

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356177099

rs_2474195328

1 SubmittersRCV002286558

NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter)

SNV
Germline

Chr4:6300907

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356174279

rs_1730863609

1 SubmittersRCV002289346

NM_006005.3(WFS1):c.115G>T (p.Glu39Ter)

SNV
Unknown

Chr4:6277570

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA2838799

rs_774330485

1 SubmittersRCV002509132

NM_006005.3(WFS1):c.615C>T (p.Gly205=)

SNV
Germline

Chr4:6291351

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA91794581

rs_954971844

3 SubmittersRCV002509136 RCV002571569

NM_006005.3(WFS1):c.1099G>T (p.Asp367Tyr)

SNV
Germline

Chr4:6300894

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA356174253

rs_886059528

2 SubmittersRCV002509844 RCV003689020

NM_006005.3(WFS1):c.873C>T (p.Tyr291=)

SNV
Germline

Chr4:6300668

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2839133

rs_777580652

2 SubmittersRCV002509847 RCV002574722

NM_006005.3(WFS1):c.1359C>T (p.Pro453=)

SNV
Germline

Chr4:6301154

Conflicting classifications of pathogenicity

Condition: not provided
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Cataract 41
Wolfram-like syndrome
Type 2 diabetes mellitus
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA2839319

rs_781138096

3 SubmittersRCV003073183 RCV004540544 RCV005028216

NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)

SNV
Germline

Chr4:6291295

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Cataract 41
Wolfram syndrome 1
Wolfram-like syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356172033

rs_1730456165

2 SubmittersRCV002647198 RCV005034785

NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)

SNV
Germline

Chr4:6301423

Pathogenic/Likely pathogenic

Condition: not provided
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA356176348

rs_1309408215

2 SubmittersRCV002651811 RCV005045372

NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr4:6291928

Pathogenic/Likely pathogenic

Condition: not provided
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2838985

rs_71530928

2 SubmittersRCV003112160 RCV005036665

NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter)

SNV
Unknown

Chr4:6301157

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356174760

rs_1043668392

1 SubmittersRCV003126290

NM_006005.3(WFS1):c.1653C>T (p.Ser551=)

SNV
Germline

Chr4:6301448

Conflicting classifications of pathogenicity

Wolfram syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2839430

rs_766730980

3 SubmittersRCV003126403 RCV003883957

NM_006005.3(WFS1):c.1627C>T (p.Leu543Phe)

SNV
Germline

Chr4:6301422

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356176343

rs_1310304264

1 SubmittersRCV003223364

NM_006005.3(WFS1):c.1508T>G (p.Val503Gly)

SNV
Germline

Chr4:6301303

Conflicting classifications of pathogenicity

Condition: not provided
Auditory neuropathy
Wolfram syndrome 1
Cataract 41
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA2839384

rs_772993007

3 SubmittersRCV003227243 RCV003483914 RCV005036704

NM_006005.3(WFS1):c.2006A>G (p.Tyr669Cys)

SNV
Germline

Chr4:6301801

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356177275

rs_1402999203

1 SubmittersRCV003322585

NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter)

SNV
Germline

Chr4:6301633

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA2839515

rs_762467865

1 SubmittersRCV003323276

NM_006005.3(WFS1):c.460+1G>C

SNV
Germline

Chr4:6289132

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356171818

rs_1191510461

1 SubmittersRCV003323321

NM_006005.3(WFS1):c.1676C>A (p.Ala559Asp)

SNV
Germline

Chr4:6301471

Likely pathogenic

Condition: not provided
Wolfram syndrome 1

Criteria Provided
Single Submitter

CA356176485

rs_773343292

2 SubmittersRCV003555141 RCV003992778

NM_006005.3(WFS1):c.1014C>A (p.Ile338=)

SNV
Germline

Chr4:6300809

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Cataract 41
Wolfram syndrome 1

Criteria Provided
Conflicting Classifications

CA438367874

rs_748353498

2 SubmittersRCV003727246 RCV005030245

NM_006005.3(WFS1):c.2266C>G (p.Arg756Gly)

SNV
Germline

Chr4:6302061

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004698407

NM_006005.3(WFS1):c.2586G>C (p.Lys862Asn)

SNV
Germline

Chr4:6302381

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004698408

NM_006005.3(WFS1):c.874C>T (p.Pro292Ser)

SNV
Germline

Chr4:6300669

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004789989

NM_006005.3(WFS1):c.2062A>T (p.Ile688Phe)

SNV
Germline

Chr4:6301857

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004821214

NM_006005.3(WFS1):c.1420A>C (p.Met474Leu)

SNV
Germline

Chr4:6301215

Conflicting classifications of pathogenicity

Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005039190 RCV005291139

NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)

SNV
Germline

Chr4:6301864

Likely pathogenic

Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005040872

NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)

SNV
Germline

Chr4:6302131

Likely pathogenic

Wolfram-like syndrome
Cataract 41
Type 2 diabetes mellitus
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005039222

NM_001008388.5(CISD2):c.109G>T (p.Glu37Ter)

SNV
Germline

Chr4:102885221

Likely pathogenic

Wolfram syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024921

NM_006005.3(WFS1):c.863T>G (p.Val288Gly)

SNV
Germline

Chr4:6300658

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005233214

NM_006005.3(WFS1):c.2095A>C (p.Thr699Pro)

SNV
Germline

Chr4:6301890

Likely pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005234890

NM_006005.3(WFS1):c.762C>G (p.Tyr254Ter)

SNV
Germline

Chr4:6295090

Pathogenic

Wolfram syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005253178