Sugi Variant

Sugi Variant/DNMT1

DNMT1 — 1646 ClinVar variants

All ClinVar germline DNMT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 601 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 110 Conflicting · 84 Benign · 65 Benign/Likely benign · 710 Likely benign · 667 Uncertain significance

Full DNMT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 601

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 56

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

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 119

The independent predictors disagree with each other — read with care.

All DNMT1 variants

Pathogenic 3

Pathogenic/Likely pathogenic 1

  • p.Tyr511Cys Multiple submitters autosomal dominant cerebellar ataxia, deafness and narcolepsy

Likely pathogenic 6

  • p.Gly605Ala Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Gly776Glu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Leu608Arg Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Pro1546Ser Single submitter spastic ataxia
  • p.Tyr540Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Val606Phe Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy

Conflicting classifications of pathogenicity 110

  • c.1171-7C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2020-10C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+9G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2721-10T>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3117-4G>A Single submitter Inborn genetic diseases
  • c.3117-5C>T Single submitter Inborn genetic diseases
  • c.3117-8G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3394+4C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3523+6C>T Single submitter Inborn genetic diseases
  • c.3523+9C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3806+6C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3948+4G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-5C>A Single submitter Inborn genetic diseases
  • c.3949-5C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4293+5T>C Single submitter Inborn genetic diseases
  • c.446-7del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4489+17G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.493+1G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • c.649-5C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.769-4T>G Single submitter Inborn genetic diseases
  • c.*165T>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1104Val Single submitter spastic ataxia ⚠
  • p.Ala1334Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1354Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1419Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala192Val Single submitter Inborn genetic diseases ⚠
  • p.Ala512Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala663Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala793Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg101Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1033Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg106His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1075Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1098= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg119Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1223His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1226= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg1277Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg136Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg136His Single submitter Inborn genetic diseases ⚠
  • p.Arg1482Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1482His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg240= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg246Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg246His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg355His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg560Cys Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Asn109= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asn945= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp1632His Single submitter Inborn genetic diseases ⚠
  • p.Asp289= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp875Asn Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asp953Gly Single submitter pituitary stalk interruption syndrome ⚠
  • p.Cys1087= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Glu1626Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1628Asp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu290Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu479Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu51Lys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Gly1166= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly285= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly77Arg Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Gly77Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly946Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.His1052= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.His1476Arg Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.His1518= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.His50= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ile1012Met Single submitter Inborn genetic diseases
  • p.Ile1055Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ile438= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu930Phe Single submitter Inborn genetic diseases ⚠
  • p.Lys176Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys176Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys297Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys300Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys301Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys307Glu Single submitter DNMT1-related disorder ⚠
  • p.Met1433Thr Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Pro1085= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro128Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro128Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro232Leu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro232Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro268Leu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro348Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro507Leu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro979= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ser1388= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ser1398Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr1047Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr137Arg Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Thr137Met Single submitter Inborn genetic diseases ⚠
  • p.Thr161= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr174Pro Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Thr245Met Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Thr550= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr772Asn Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Thr796Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr1256Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Tyr429= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Tyr889= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Val1066Met Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Val1078Met Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Val1088Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1495Met Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Val754Ile Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Val910Leu Single submitter Inborn genetic diseases ⚠
  • p.Val972Met Single submitter DNMT1-related disorder ⚠
  • p.His569Arg No assertion criteria hereditary sensory neuropathy-deafness-dementia syndrome ⚠

Benign 84

Benign/Likely benign 65

  • c.1044-18dup Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1044-8del Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1280+14C>G Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2019+19G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+13G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2382-15G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2587-19C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3310-18C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3524-16G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-14C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-9dup Multiple submitters Inborn genetic diseases
  • c.4656+13G>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4773+18C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.493+8C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.648+7C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.683+16A>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.768+12T>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.768+18C>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.80+18dup Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.803+11C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.81-3C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.81-3del Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.891+8C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala615= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg1223= Multiple submitters Inborn genetic diseases
  • p.Asn1117= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asn408= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp1062= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp144= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp295= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Cys1164= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Cys1501= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gln326Pro Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gln899= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Glu1626= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Glu166Gly Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Glu211= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly1074= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly244Glu Multiple submitters Inborn genetic diseases
  • p.Gly670= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly876Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.His1476Gln Multiple submitters Inborn genetic diseases
  • p.His365= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.His97Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ile327Met Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu1533= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu309Val Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu402= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu821= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Lys351= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Phe1312= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Phe644= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Phe892= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro1136= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro129= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro131= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro1344= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ser1138Cys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ser856= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr632= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr824= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr898Ile Multiple submitters Inborn genetic diseases
  • p.Val1359= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Val229= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Val574= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome

Likely benign 710

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

  • c.1044-8T>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1044-9T>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.118-17C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1280+14C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1281-38G>A Multiple submitters
  • c.1493-5C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1644+10C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1832+10C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1833-4G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1833-5C>T Multiple submitters Inborn genetic diseases
  • c.2019+15G>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2019+8C>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+12C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+17C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2382-16C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2586+11G>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2587-18G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2720+8C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2894+15G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3116+11G>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3116+14_3116+32del Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3117-6T>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3117-9C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3309+131C>T Multiple submitters
  • c.3310-114A>C Multiple submitters
  • c.3523+10C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-18C>G Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4116-16T>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4293+14G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4293+17A>G Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4293+8C>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4657-57C>T Multiple submitters
  • c.4657-69C>G Multiple submitters
  • c.4773+11C>T Multiple submitters autosomal dominant cerebellar ataxia, deafness and narcolepsy
  • c.4773+15G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4773+97C>A Multiple submitters
  • c.570-9G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.769-21T>G Multiple submitters
  • c.80+11T>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.80+13G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.926+14A>G Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.927-196G>A Multiple submitters
  • p.Ala1049= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1192= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1317= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1333= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1595= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala356Thr Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala512= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala770= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala815= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg118= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg1478= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg1617Gln Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg621= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asn111= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asn1395= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asn662= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asn804= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp1232= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp1536= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp377= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp389= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp581= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp645= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp874= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Asp875= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Cys1237= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Cys1271= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Cys372= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gln1507= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gln614= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Glu1627= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly1163= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly1321= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Gly1574= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.His569= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ile163Met Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu883= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu968= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Lys130= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Lys944= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Phe1582= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro1241= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro128= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro1352= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro1391= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro1546= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro867= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro971= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ser1375= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ser825= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr1325= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr137= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr1542= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr245= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr5= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr549= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr607= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr637= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr756= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Thr796= Multiple submitters Inborn genetic diseases
  • p.Thr819= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Tyr1320= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Tyr383= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Tyr415= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Val15= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Val286Met Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Val750= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1008+10T>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1008+16T>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1008+17T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1008+20_1008+21del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1008+43_1008+46del Single submitter
  • c.1008+44_1008+46del Single submitter
  • c.1008+7del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1008+7G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1008+7G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1009-17T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1009-217G>A Single submitter
  • c.1009-246C>A Single submitter
  • c.1009-247G>A Single submitter
  • c.1009-5T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1009-7del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1043+19C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1043+20A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1044-10T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1044-13T>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1044-14T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1044-17T>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1044-3del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+12C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+13C>G Single submitter
  • c.1089+13C>T Single submitter
  • c.1089+14G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+15G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+18A>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+18A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+7A>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+9C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+9C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1090-13C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1090-9C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.117+12C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1170+10G>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1170+13C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1170+18C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1171-11G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1171-12C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1171-14C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1171-19C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.118-15A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.118-15AT[3] Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.118-17C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.118-19A>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.118-7C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1280+20C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1280+9A>G Single submitter
  • c.1280+9A>T Single submitter
  • c.1281-17C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1281-19T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1281-234C>T Single submitter
  • c.1281-4C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1281-8C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1281-9C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1281-9C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1399+13C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1399+14C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1399+15G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1400-14T>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1400-17del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1400-19T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1400-4del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1400-7G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1400-7G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1492+15C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1492+18C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1492+18C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1492+243A>C Single submitter
  • c.1493-11_1493-9dup Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1493-15_1493-13del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1493-16C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1644+11G>A Single submitter
  • c.1644+13G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1644+16T>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1644+20C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1644+8A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1644+8A>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1644+9T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1645-10C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1645-16C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1832+11G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1832+17G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1832+8T>C Single submitter
  • c.1833-11C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2019+17G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2019+17G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2019+18T>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2019+19G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2019+20C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2020-11C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2020-12G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2020-18T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+14del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+20C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+7C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2118-19A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2118-26_2118-21del Single submitter
  • c.2118-7A>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.225+102TGA[9] Single submitter
  • c.225+15A>G Single submitter
  • c.225+9G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.226-14C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.226-4G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.226-6C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.226-7G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2265+5C>A Single submitter
  • c.2265+7del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2266-240A>G Single submitter
  • c.2381+13C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2381+18T>C Single submitter
  • c.2381+8T>A Single submitter
  • c.2382-17C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2382-19G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2586+20C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2587-13C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2587-16A>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2587-16A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2720+12G>T Single submitter
  • c.2720+17G>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2720+19C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2720+19C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2721-15C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2721-17C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2894+10C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2894+136_2894+137del Single submitter
  • c.2894+14C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2894+9C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2895-14G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2895-15G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2895-19A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2895-310T>A Single submitter
  • c.3116+12C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3116+15C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3116+208G>A Single submitter
  • c.3116+8G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3117-13C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3117-182G>C Single submitter
  • c.3117-20G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3117-8G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3309+12G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3309+20G>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3310-16G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3310-9C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3394+11G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3394+15G>A Single submitter
  • c.3395-11C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3395-14C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3395-15G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3395-7C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3523+11G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3523+7G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3524-17C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3806+10dup Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3806+16C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3806+17C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3806+20C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-10C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-11G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-18C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-4A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-7C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-7C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-9C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-9C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3948+18G>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3948+20C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3948+220G>A Single submitter
  • c.3948+239G>A Single submitter
  • c.3949-11C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-12_3949-10del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-149G>A Single submitter
  • c.3949-17G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-19C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-4A>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-8C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-9C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4115+13C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4115+16C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4115+16C>T Single submitter
  • c.4115+17G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4116-22_4116-20del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4116-9C>T Single submitter
  • c.4293+12C>T Single submitter
  • c.4293+14G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4293+15A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4293+20G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4293+236T>G Single submitter
  • c.4294-18C>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4294-18C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome

Uncertain significance 667

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

  • c.1280+2T>C Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3524-5G>T Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.494-4A>G Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • c.*211G>C Multiple submitters autosomal dominant cerebellar ataxia, deafness and narcolepsy
  • c.*253G>A Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1053Thr Multiple submitters autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Ala1334Thr Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala512Val Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala570Thr Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala615Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala797Val Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1011Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1011Trp Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1075His Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1120His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg114Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1156Gln Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1194Trp Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg119Gly Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1223Cys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1226Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1254Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1442Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1442Trp Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1472Trp Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg149Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg151Gly Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg228Gln Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg313Trp Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg33Gly Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg4His Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg617Gln Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg69Cys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg914His Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg936Gln Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg936Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg974Cys Multiple submitters autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Asn1056Ser Multiple submitters autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Asn399Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asp1062Asn Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asp144Asn Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asp206Asn Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asp334Val Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asp886His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp932Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1173His Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Gln287Glu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu1005Lys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Glu1086Lys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu1534Lys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu237Val Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu296Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu316Lys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu319Asp Multiple submitters DNMT1-related disorder ⚠
  • p.Glu333Lys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu548Lys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Glu774Gly Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Gly1095Ser Multiple submitters ⚠
  • p.Gly110Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1134Asp Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Gly1199Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Gly1465Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Gly952Ala Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.His1118Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His97Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1402Phe Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ile1458Val Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ile163Val Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu309Ile Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Leu397= Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Leu465Pro Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Leu532Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu984Met Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys1151Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys1364Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys1615Asn Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys1623Glu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys1631Glu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys204Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys297Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys300Glu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys301Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys312Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Lys336= Multiple submitters Inborn genetic diseases
  • p.Lys741dup Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Lys897Glu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Met353Thr Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Met360Ile Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Met861Ile Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Phe1267Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Phe1412Leu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Phe831Leu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro1048Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1146Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro1153_Leu1155dup Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro131Ser Multiple submitters Ataxia ⚠
  • p.Pro153Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Pro167Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro171Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro196Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro278Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro278Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro306Ser Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Pro986Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1050Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1121Ile Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ser1619Asn Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ser205Leu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ser225Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser304Arg Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ser538Leu Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ser698Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser869Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1179Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1220Ile Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Thr349Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr796Ala Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Thr824Met Multiple submitters Inborn genetic diseases
  • p.Tyr540Cys Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Tyr985His Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Val1349Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val1359Met Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Val286Ala Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Val671Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val980Met Multiple submitters hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • c.1008+18_1008+34del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1089+12_1089+13delinsGT Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1090-3C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.117+8C>A Single submitter
  • c.1170+3_1170+4delinsGG Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1170+3A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1170+5G>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1170+5G>T Single submitter Inborn genetic diseases
  • c.1280+3A>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1399+5G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1399+6G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1492+1G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1492+3_1492+6del Single submitter
  • c.1492+6T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1645-8_1645-7del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.1832+13_1832+14inv Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2117+4G>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2118-12G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.225+4A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.2721-8T>C Single submitter
  • c.2894+10C>A Single submitter
  • c.2894+3A>G Single submitter Inborn genetic diseases
  • c.2894+4A>G Single submitter
  • c.3116+3C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3310-15T>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3394+13A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3394+5G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3394+7C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3523+3G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3523+4_3523+7dup Single submitter
  • c.3524-3C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3806+6C>A Single submitter Inborn genetic diseases
  • c.3806+6C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3806+7G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-7C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3807-8C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.3949-3C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.446-2A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4489+15T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.4489+3G>A Single submitter
  • c.4773+3C>G Single submitter Inborn genetic diseases
  • c.493+3A>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.570-1G>A Single submitter
  • c.570-7G>A Single submitter
  • c.648+4G>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.80+5G>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.803+1G>C Single submitter
  • c.804-8T>C Single submitter
  • c.891+1G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.926+10T>G Single submitter
  • c.-19G>C Single submitter
  • c.-1G>A Single submitter
  • c.-20C>A Single submitter
  • c.-26C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.-34C>G Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.-4C>T Single submitter
  • c.-8C>A Single submitter
  • c.*18C>T Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.*274T>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.*29G>A Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • c.*34A>C Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1049Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1065Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1189= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1192Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala123Gly Single submitter ⚠
  • p.Ala125Thr Single submitter ⚠
  • p.Ala125Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1333Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1334Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1335Asp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1335Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1419Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1468Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1468Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala147Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1487Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1487Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1504Thr Single submitter ⚠
  • p.Ala1505Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala155Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala157Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala157Thr Single submitter
  • p.Ala157Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala1614fs Single submitter Inborn genetic diseases
  • p.Ala1616Asp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala1630Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala188Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala282Phe Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala282Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala310Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala310Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala311Asp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala311Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala356Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala390= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala390Glu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala491Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala649Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala663Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala711Pro Single submitter ⚠
  • p.Ala770Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala797Gly Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Ala80Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala815Thr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala890Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala890Val Single submitter ⚠
  • p.Ala913Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala913Val Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Ala98Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg106Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1075Pro Single submitter ⚠
  • p.Arg1098Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1098His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1120Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1156Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg118Leu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1226Pro Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg1226Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1275Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1292Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1292Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1301Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1301His Single submitter ⚠
  • p.Arg1305His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg136Leu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1379Gln Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Arg1394Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg140Lys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1442Gly Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1461Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg1461Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg149Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg151= Single submitter
  • p.Arg1567Gln Single submitter ⚠
  • p.Arg1571Cys Single submitter autosomal dominant cerebellar ataxia, deafness and narcolepsy ⚠
  • p.Arg1617Ter Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg164Gly Single submitter
  • p.Arg194Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg221His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg221Leu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg228= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg253Gly Single submitter ⚠
  • p.Arg27Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg283Gly Single submitter ⚠
  • p.Arg313Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg314del Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg341Cys Single submitter ⚠
  • p.Arg355Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg560His Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg611fs Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg617Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg629Gly Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg666Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg667Gln Single submitter ⚠
  • p.Arg697Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg69Gly Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg69Leu Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg705Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg794= Single submitter hereditary sensory neuropathy-deafness-dementia syndrome
  • p.Arg914Cys Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg936Gly Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg950Gln Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg976Trp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Arg9Gly Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asn100Ser Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asn100Tyr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asn1026Ser Single submitter ⚠
  • p.Asn1035Ser Single submitter Paroxysmal central nervous system disorders ⚠
  • p.Asn1056Tyr Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asn1106Asp Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asn111Ile Single submitter hereditary sensory neuropathy-deafness-dementia syndrome ⚠
  • p.Asn111Lys Single submitter ⚠
  • p.Asn1197Ser Single submitter