Sugi Variant

Sugi Variant/DIAPH1

DIAPH1 — 1818 ClinVar variants

All ClinVar germline DIAPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 845 flagged for review →

32 Pathogenic · 2 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 57 Conflicting · 45 Benign · 19 Benign/Likely benign · 674 Likely benign · 964 Uncertain significance

Full DIAPH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 845

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 425

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 425

Predictors split 412

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 412

All DIAPH1 variants

Pathogenic 32

  • p.Arg1049Ter Multiple submitters Deafness
  • p.Arg1213Ter Multiple submitters Rare genetic deafness
  • p.Arg331Ter Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Arg351Ter Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Lys847fs Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Pro704fs Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3661+1G>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.684+1G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Arg1008Ter Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Arg1071fs Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Arg1164Ter Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Arg495Ter Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Arg932Ter Single submitter
  • p.Gln1056Ter Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Gln271Ter Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Gln517Ter Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Glu1173fs Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Gly11fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Gly30fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Leu280fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Leu537fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Leu657fs Single submitter
  • p.Lys37Ter Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Met339fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Pro701fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Pro703fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Ser304fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Ser970fs Single submitter
  • p.Trp784fs Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Tyr209Ter Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Ala1210fs No assertion criteria autosomal dominant nonsyndromic hearing loss 1
  • p.Phe923fs No assertion criteria progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Pathogenic/Likely pathogenic 2

  • p.Gln778Ter Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Met1090fs Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Likely pathogenic 25

  • c.145-1G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.1044+1G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.118-1G>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1280+2T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1396+1G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.144+2T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2676+2T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-1G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-2A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-3_3149-2delinsC Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3575-50_3661+36inv Single submitter Macrothrombocytopenia
  • c.402+2T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.533+1G>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.621-2A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.933+2C>T Single submitter
  • p.Ala448fs Single submitter
  • p.Arg968fs Single submitter
  • p.Glu803fs Single submitter
  • p.Lys504fs Single submitter DIAPH1-related disorder
  • p.Pro27fs Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Pro614fs Single submitter Pendred syndrome
  • p.Asp1039fs No assertion criteria Neonatal seizure
  • p.Gln82Ter No assertion criteria DIAPH1-related disorder
  • p.Leu982Arg No assertion criteria autosomal dominant nonsyndromic hearing loss 1
  • p.Ser264Tyr No assertion criteria Auditory neuropathy spectrum disorder

Conflicting classifications of pathogenicity 57

  • c.117+8T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2474-11T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.300+12A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.300+7T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.301-5C>T Single submitter Inborn genetic diseases
  • c.3439-3del Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3574+10G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.620+8C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.621-4A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.685-5A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.933+12C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.-22G>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*367C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Ala29= Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Ala522Val Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala567Val Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1105Trp Single submitter beta-mannosidosis ⚠
  • p.Arg294= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Arg455Gln Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg579His Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg968Cys Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asn975Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp1033= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Asp193= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Gln429= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Glu1184= Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Glu475Lys Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gly33= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Gly369= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Gly590Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.His524Leu Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ile595Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Leu1059Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Leu263= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Leu669Phe Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Leu720Phe Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Leu779= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Lys453= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Met1017Thr Single submitter Inborn genetic diseases ⚠
  • p.Met890Val Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Phe229= Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Pro583Arg Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro617_Pro620del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Pro618_Pro620del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Pro618_Pro620dup Single submitter Inborn genetic diseases
  • p.Pro618Ser Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro670Leu Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro677Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro679Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro703Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro742Ala Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ser22Asn Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Thr1259= Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Thr182Lys Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Thr323= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Tyr209= Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Val925Met Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠

Benign 45

Benign/Likely benign 19

  • c.1045-20T>A Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.117+9C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.3149-25_3149-23dup Multiple submitters
  • c.3149-25_3149-24dup Multiple submitters
  • c.3149-25dup Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.402+12del Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.621-19T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ala67Val Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ala813Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Asp508Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gly662Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ile469= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Lys553= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Phe1076Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro297= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Pro616_Pro620dup Multiple submitters Inborn genetic diseases
  • p.Pro619_Pro620dup Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Pro655Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro678Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠

Likely benign 674

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1164-10C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.117+10C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.1397-14C>T Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1397-14CTT[2] Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2358+15C>G Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.2474-28T>C Multiple submitters
  • c.2483-57G>A Multiple submitters
  • c.2676+21G>A Multiple submitters
  • c.3149-1G>T Multiple submitters
  • c.3149-4_3149-3del Multiple submitters
  • c.3149-79T>C Multiple submitters
  • c.3439-27G>A Multiple submitters
  • c.3574+8G>C Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.3575-78T>G Multiple submitters
  • c.3661+16G>A Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3661+69C>T Multiple submitters
  • c.3662-14G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.3662-24A>G Multiple submitters
  • c.402+101A>G Multiple submitters
  • c.621-8A>G Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.685-10G>T Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.-49A>C Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.*16C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.*217C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ala1079= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ala1225= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Ala494= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ala962= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Ala963= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ala994= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Arg1155= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Arg1155Trp Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Asn446= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Asp1009= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Asp791= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Gln529= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Glu1120= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Glu1173= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Glu151= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Gly671Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gly924= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ile1066= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Lys1016= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Lys261= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Lys486= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Phe812= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Pro1032= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Pro4= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Pro618= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Pro676= Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Pro689= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Pro701= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ser1092= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Thr1018= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Val846= Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.1044+11_1044+16del Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1044+14C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1044+7T>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1044+8A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1044+9T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1044+9T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1045-11G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1045-16C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1045-9T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1163+12C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1163+14dup Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1164-186T>C Single submitter
  • c.1164-4C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1164-9C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+12_117+15del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+12T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+13C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.117+181C>G Single submitter
  • c.117+18C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.117+19C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+19C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+20C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+238C>T Single submitter
  • c.117+285C>T Single submitter
  • c.117+7G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+9C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.118-18C>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.118-18C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.118-223C>T Single submitter
  • c.118-5C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.118-9G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.118-9G>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1280+14C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1280+15T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1280+7T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1280+8G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1281-13T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1281-147T>G Single submitter
  • c.1281-20C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1281-20C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1281-6T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1396+11T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1396+15C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1396+19C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1396+7A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1396+9A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1397-13T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1397-174G>A Single submitter
  • c.1397-22_1397-19del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1397-9T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.144+11T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.144+14G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.144+18A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.144+19G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.144+20C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.144+8C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.145-13T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.145-14T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.145-17T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.145-17T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.145-20T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.145-20T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.145-5C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1461+10A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1461+16C>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1461+16dup Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1461+18A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1461+19_1461+20delinsGA Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1461+20_1461+21delinsAG Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1461+213G>A Single submitter
  • c.1462-11T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1462-13G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1462-13G>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1462-14C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1462-15dup Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1462-15T>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1462-19T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1462-20C>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1462-4C>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1462-6C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1641+10G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1641+13C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1641+14A>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1641+241C>G Single submitter
  • c.1641+51T>G Single submitter
  • c.1641+77C>T Single submitter
  • c.1641+7C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1641+7C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1641+9T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1642-14T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1642-15A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1642-19A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1642-20C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1642-9T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2358+13_2358+16del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2358+143C>T Single submitter
  • c.2358+17A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2358+20_2358+23del Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2358+229G>A Single submitter
  • c.2358+7G>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2359-13C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2359-14G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2359-14G>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2359-15T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2359-16C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2359-18C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2359-19A>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2359-20del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2359-5C>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2359-9T>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2473+18T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2473+63T>A Single submitter
  • c.2473+8C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2473+9C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2474-16C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2474-17G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2474-20C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2474-25C>T Single submitter
  • c.2482+10C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2482+122G>C Single submitter
  • c.2482+17G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2482+19C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2482+70G>C Single submitter
  • c.2483-14C>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2483-17A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2483-30A>G Single submitter
  • c.2483-87G>A Single submitter
  • c.2483-9C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2581+106A>G Single submitter
  • c.2581+11C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2581+12T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2581+12T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2581+17C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2582-11T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2582-18T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2582-7C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2676+12G>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2676+13del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2676+13G>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2676+16G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2676+8G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2677-10T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2677-11C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2677-11C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2677-14C>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2677-9_2677-6del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2778+10G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2778+20G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2778+27G>T Single submitter
  • c.2779-10T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2779-11T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2779-14G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2779-20C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2779-6del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2779-6T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.300+13T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.300+16C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.300+17C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.300+19A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.301-11C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.301-13C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.301-15_301-14del Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.301-16T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.301-20C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.301-4C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.301-6T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3018+11G>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3018+16A>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3019-11_3019-10del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3019-11C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3019-11C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3019-16C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3019-17del Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3019-5C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3019-7C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3019-8T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3148+16del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3148+178T>C Single submitter
  • c.3148+17T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3148+17T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3148+20A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-13T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-14_3149-13insG Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-14T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3149-15_3149-14insG Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-15_3149-3del Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-15_3149-3dup Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-15T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-16_3149-15insG Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3149-16T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-17T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3149-18_3149-17insG Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-18T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-19T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3149-20_3149-19insG Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-24T>G Single submitter
  • c.3149-25_3149-12dup Single submitter
  • c.3149-25_3149-22dup Single submitter
  • c.3149-7_3149-6insG Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-8_3149-7insC Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-96G>A Single submitter
  • c.3273+10C>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3273+11T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3273+11T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3273+65G>A Single submitter
  • c.3273+8C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3274-10T>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3274-11C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3274-121T>C Single submitter
  • c.3274-18T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3274-23_3274-18dup Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3274-37TTGGTC[2] Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3274-37TTGGTC[4] Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3274-5T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3274-7G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3438+12A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3438+14A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3438+18G>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3438+8dup Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3439-5C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3574+15C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3574+15C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3574+15C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3574+16G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3574+18_3574+22del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3574+18G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3574+291A>G Single submitter
  • c.3574+8G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3575-13T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3575-14G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3575-16T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3575-6T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3575-9T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3661+12C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3661+13A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3661+14T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3661+163G>T Single submitter
  • c.3661+34G>A Single submitter
  • c.3661+8A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3662-10T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3662-11T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3662-14G>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3662-15C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3662-16T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3662-19C>G Single submitter autosomal dominant nonsyndromic hearing loss 1

Uncertain significance 964

Showing the top 300 by review status; the full set is in the sitemap.

  • c.3574+6G>C Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.402+5G>A Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.934-3T>G Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • c.*88C>T Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • p.Ala325Val Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala711Val Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala73Thr Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala821Ser Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala989Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1105Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1142Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1142Trp Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1155Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg1156Gln Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1156Trp Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1164Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg1176Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg1214Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg1270Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1270His Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg153Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg212Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg212Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg219Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg340Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg340Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg384His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg421Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg43Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg495Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg579Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg805His Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg868Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg932Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg934Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg934Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asn1222Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asn65Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn783Asp Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Asn808Lys Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Asn882Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asn938Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asn993Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asp1033Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asp1084Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1125Gly Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Asp24His Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asp423Glu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Asp470Gly Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Asp515His Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asp536Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp648Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asp77Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Asp831Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gln1098Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gln1220Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Gln127Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln778Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln842Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gln949Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1053Lys Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Glu1120Lys Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Glu115Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Glu115Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Glu123Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Glu239Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Glu285Val Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Glu538Ala Multiple submitters DIAPH1-related disorder ⚠
  • p.Gly1226Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly20Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Gly30Ser Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Gly369Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly447Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Gly590Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gly660Val Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Gly734Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gly735Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Gly746Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly754Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.His215Arg Multiple submitters ⚠
  • p.His524Tyr Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ile118Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile308Val Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ile461Thr Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ile570Val Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ile639Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ile639Val Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ile675Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile700Asn Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ile891Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Leu1026Phe Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Lys1063Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Lys1224Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys35Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Lys453Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys480Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Lys534Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Lys550Gln Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Lys824Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Lys911Asn Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Met1017Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met103Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1162Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met256Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met275Ile Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Met339Val Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Met385Ile Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Met927Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Met927Val Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Phe1037Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Phe365Leu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro1077Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro10Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro270Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro272Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro27Leu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro581Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro599Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro599Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro609Leu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro614_Pro620dup Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Pro616_Pro620del Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Pro617Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro618Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro619Leu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro620Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro631Ala Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro631Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro643Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro655Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro655His Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro677Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro688Leu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro703Arg Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro703Gln Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Pro703Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro714Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro715Ala Multiple submitters DIAPH1-related disorder ⚠
  • p.Pro717Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro719Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro721His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro741Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Pro758Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ser1235Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ser1235Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ser154Leu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ser373Phe Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ser575Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser668del Multiple submitters autosomal dominant nonsyndromic hearing loss 1
  • p.Ser668Phe Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ser7Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ser920Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr14Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr532Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Thr768Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Thr980Ile Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Tyr1031Phe Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Tyr424Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val1246Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Val1268Phe Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Val180Met Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Val401Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val420Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Val474Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val500Met Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Val582Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Val777Leu Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Val87Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Val94Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Val960Ile Multiple submitters progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • c.1044+15T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1044+6A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1163+6C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1163+8T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1164-3C>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1164-9C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.117+3G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1280+3A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1281-3T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1397-3C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.144+5G>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.145-3C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1461+5A>G Single submitter
  • c.1461+6T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.1461+8T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.1641+16G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2358+6del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2473+3G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2473+3G>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2474-4G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2482+4A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2482+5G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.2778+2dup Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.2779-3T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3018+3G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3018+6C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3148+3G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3148+6G>A Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3149-13_3149-3del Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3149-3_3149-2insC Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3149-3_3149-2insTC Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3149-3T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3273+19A>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3273+3A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3273+4T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3273+4T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3273+5C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3273+6C>G Single submitter
  • c.3273+8C>T Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.3274-5T>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3574+5G>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3662-1931C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3662-3C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.3662-3C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.402+19A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.533+3G>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.621-12T>G Single submitter
  • c.621-3C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.621-6A>G Single submitter Inborn genetic diseases
  • c.684+3G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.684+6A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.685-18T>C Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.825-3C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.933+3A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.933+5G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.933+6T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.933+7A>G Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
  • c.933+9A>G Single submitter
  • c.-14G>C Single submitter
  • c.-27G>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.-3G>C Single submitter
  • c.-82G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.-85A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1006T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1309A>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1337C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1395C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1444T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1533C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1544A>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*1654C>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*236T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*254G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*332T>G Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*39G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*521G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*533G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*644C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*701T>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*724C>T Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*811A>C Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*867G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*870G>A Single submitter autosomal dominant nonsyndromic hearing loss 1
  • c.*932dup Single submitter
  • p.Ala1047Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala1078Val Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala1205fs Single submitter autosomal dominant nonsyndromic hearing loss 1
  • p.Ala1205Thr Single submitter ⚠
  • p.Ala1205Val Single submitter ⚠
  • p.Ala1210Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala1221Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala1225Ser Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala1234Val Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala1271Ser Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala1271Val Single submitter ⚠
  • p.Ala134Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala145Asp Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala206Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala247Gly Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala251Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala282Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala29Ser Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala29Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala448Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala479Gly Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala494Ser Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala569Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala585Pro Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala601Gly Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala638Gly Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala685Thr Single submitter ⚠
  • p.Ala685Val Single submitter ⚠
  • p.Ala698Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala73Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala789Ser Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala789Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala81Glu Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala821Thr Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala821Val Single submitter ⚠
  • p.Ala857Thr Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Ala884Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala884Val Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala939Thr Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Ala939Val Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1008Gln Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1049Gln Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1071Cys Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠
  • p.Arg1071His Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1155Gly Single submitter progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ⚠
  • p.Arg1156Pro Single submitter autosomal dominant nonsyndromic hearing loss 1 ⚠