Sugi Variant

Sugi Variant/NTRK1

NTRK1 — 1450 ClinVar variants

All ClinVar germline NTRK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 460 flagged for review →

88 Pathogenic · 30 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 93 Conflicting · 55 Benign · 17 Benign/Likely benign · 647 Likely benign · 452 Uncertain significance

Full NTRK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 460

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 48

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

Predictors lean, ClinVar uncertain 279

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 279

Predictors split 132

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

All NTRK1 variants

Pathogenic 88

  • c.1354+1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.429-1G>C Multiple submitters PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1
  • c.574+1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.850+1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.850+1G>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.851-33T>A Multiple submitters Inborn genetic diseases
  • p.Arg602Ter Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Arg654Cys Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Arg702fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gln176Ter Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gln308fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Glu70fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu439fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu627fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Lys482Ter Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Pro621fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Pro768Leu Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Ser131fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Trp711Ter Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1354+1G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1633-1G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-2A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+1G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+2T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.851-798_851-794delinsTCAGG Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ala55fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg49Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg554fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg602fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Asn365fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Asn67fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Cys154fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Cys442Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Cys579fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln160Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln199Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln216Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln308Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln495Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln626Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln76Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln770Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln77fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln77Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu142Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu172fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu388fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu480Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu515fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu518fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu581Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu590Lys Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu590Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu615Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu697fs Single submitter Inborn genetic diseases
  • p.Glu745Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu92Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly344fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly47fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly661Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.His151fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.His43fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu183fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu348fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu432fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu601Arg Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu601fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Met587Val Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Phe431fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Phe576_Val578del Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ser433fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ser475fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ser550_Glu551insAlaGlySerArgHisTer Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Thr264fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Thr292fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Thr330fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Thr580fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Thr687fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Trp132Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Trp158fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Trp693Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Tyr591Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Tyr676fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Val305fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Val511fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Val715fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+13_1634del No assertion criteria hereditary sensory and autonomic neuropathy type 4
  • p.Arg780Pro No assertion criteria hereditary sensory and autonomic neuropathy type 4

Pathogenic/Likely pathogenic 30

  • c.1196-1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1251+1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1354+1G>T Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.2046+3A>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.287+2dup Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.360-2A>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.429-1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.575-19G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.718-1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Arg602Gln Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Arg649Trp Multiple submitters NTRK1-related disorder
  • p.Arg744fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Arg771Cys Multiple submitters NTRK1-related disorder
  • p.Arg771His Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Asp38fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Asp674Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Cys429Ter Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gln180Ter Multiple submitters Inborn genetic diseases
  • p.Gln570fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gln626fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly577Ser Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly714Ser Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly724Ser Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly89_Leu90insTer Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu213Pro Multiple submitters Inborn genetic diseases
  • p.Pro695Leu Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Trp315fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Val211Glu Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Val578fs Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Val683fs Multiple submitters hereditary sensory and autonomic neuropathy type 4

Likely pathogenic 68

  • c.1196-3_1196-1del Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.2047-1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Arg692His Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly517Glu Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly577Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu700Pro Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Met1Ile Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1177+1G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1234del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1251+1G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+2T>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+5G>A Single submitter
  • c.1502-1G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-2A>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2046+1G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2046+1G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+2T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+2T>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-3C>A Single submitter
  • c.2206-12C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.354_359+3del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.359+1G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.359+227_433del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.360-2A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+2T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-2A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+4A>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.851-2A>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg347Pro Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg654His Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg654Pro Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Asn148fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Asn253fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Asn401fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Asn531Ser Single submitter ovarian cancer ⚠
  • p.Cys191Phe Single submitter ovarian cancer ⚠
  • p.Cys41fs Single submitter
  • p.Gln173fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln558Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln568fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln9fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu518Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu528Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu581fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly219fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly577fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly762fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ile98Thr Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu130_Ser131insTer Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu610= Single submitter ovarian cancer
  • p.Leu628fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Lys261del Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Met1Lys Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Phe105fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Phe575fs Single submitter NTRK1-related disorder
  • p.Ser101Arg Single submitter neurodevelopmental disorder
  • p.Ser498fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ser698Arg Single submitter
  • p.Ser698Asn Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Trp728Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Trp764Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Tyr359Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Tyr723Ter Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Val135fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Val193fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Val715Leu Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+5G>A No assertion criteria hereditary sensory and autonomic neuropathy type 4
  • p.Glu551fs No assertion criteria hereditary sensory and autonomic neuropathy type 4

Conflicting classifications of pathogenicity 93

  • c.1196-11T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-15C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-6C>G Single submitter Inborn genetic diseases
  • c.1501+1G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-8C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+10C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-1G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-5C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+13C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2206-11G>A Single submitter Inborn genetic diseases
  • c.288-5C>T Single submitter Inborn genetic diseases
  • c.360-5C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-3del Single submitter Inborn genetic diseases
  • c.575-15G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+11G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.*6C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ala549Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala636= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ala785= Single submitter Inborn genetic diseases
  • p.Arg104His Single submitter Inborn genetic diseases ⚠
  • p.Arg119= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg157His Single submitter Inborn genetic diseases ⚠
  • p.Arg161His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg214Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg214Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg220Trp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg273Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg314Cys Single submitter Hereditary cancer ⚠
  • p.Arg508Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg554Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg55Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg593Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg599His Single submitter Inborn genetic diseases ⚠
  • p.Arg649Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg692Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg702Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg744Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg744His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg761Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg761Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg780Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg780Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn188Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn356= Single submitter Inborn genetic diseases
  • p.Asn440Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp109Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp206Val Single submitter Inborn genetic diseases ⚠
  • p.Asp210= Single submitter Inborn genetic diseases
  • p.Asp270Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp53His Single submitter Inborn genetic diseases ⚠
  • p.Asp738= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Cys191Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gln289His Single submitter Inborn genetic diseases ⚠
  • p.Gln289Lys Single submitter Hereditary cancer ⚠
  • p.Glu142Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu413Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu492Lys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu581Lys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu707Lys Single submitter primary ovarian failure ⚠
  • p.Gly192Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly226Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly405Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ile491= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ile73= Single submitter Inborn genetic diseases
  • p.Leu156= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu346Pro Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu486Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu585fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu93= Single submitter Inborn genetic diseases
  • p.Lys665= Single submitter Inborn genetic diseases
  • p.Met566Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Phe600fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Pro149His Single submitter Inborn genetic diseases ⚠
  • p.Pro201His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Pro35Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Pro397Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ser190Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser396Leu Single submitter familial medullary thyroid carcinoma ⚠
  • p.Ser603Cys Single submitter Inborn genetic diseases ⚠
  • p.Thr195Met Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Thr434Met Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Thr705Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Tyr676= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Tyr723= Single submitter Inborn genetic diseases
  • p.Val170Ala Single submitter Inborn genetic diseases ⚠
  • p.Val211Met Single submitter Inborn genetic diseases ⚠
  • p.Val639= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Val647Leu Single submitter Inborn genetic diseases ⚠
  • p.Val715Ala Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Val715Met Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Val99Met Single submitter Inborn genetic diseases ⚠
  • c.359+5G>T No assertion criteria Charcot-Marie-Tooth disease
  • p.Tyr359Cys No assertion criteria Charcot-Marie-Tooth disease ⚠

Benign 55

Benign/Likely benign 17

  • c.1178-155A>G Multiple submitters
  • c.1354+18A>T Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.2047-11G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.2047-16T>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.287+12G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.428+12C>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.428+19A>G Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.851-30C>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.851-31dup Multiple submitters
  • p.Ala758Thr Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Arg85His Multiple submitters Inborn genetic diseases
  • p.Asp412= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly169Arg Multiple submitters Inborn genetic diseases
  • p.Gly18Glu Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly613Val Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.His604Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Phe576= Multiple submitters Inborn genetic diseases

Likely benign 647

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

  • c.122+160G>C Multiple submitters
  • c.123-3611G>T Multiple submitters
  • c.1252-16C>T Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1354+11G>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1354+179A>C Multiple submitters
  • c.1354+8G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1355-19G>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.1355-4C>G Multiple submitters Inborn genetic diseases
  • c.1502-106C>T Multiple submitters
  • c.1502-96G>A Multiple submitters
  • c.1632+64A>G Multiple submitters
  • c.1633-12G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.2047-6T>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.212+107C>T Multiple submitters
  • c.360-4G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.428+12C>T Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.574+10G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.575-16C>T Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.718-15T>C Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.851-37G>A Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.9+180C>G Multiple submitters
  • p.Ala107= Multiple submitters Inborn genetic diseases
  • p.Arg220Gln Multiple submitters Inborn genetic diseases
  • p.Arg508= Multiple submitters Inborn genetic diseases
  • p.Arg673= Multiple submitters Inborn genetic diseases
  • p.Arg94= Multiple submitters Inborn genetic diseases
  • p.Asn125= Multiple submitters Inborn genetic diseases
  • p.Asn262= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Asn318= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Asn381= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Asp270= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Asp709= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Cys177= Multiple submitters Inborn genetic diseases
  • p.Glu755= Multiple submitters Inborn genetic diseases
  • p.Gly168= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly519= Multiple submitters Inborn genetic diseases
  • p.Gly714= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Gly743= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.His297= Multiple submitters Inborn genetic diseases
  • p.His343= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.His778= Multiple submitters Inborn genetic diseases
  • p.Leu103= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu122= Multiple submitters Inborn genetic diseases
  • p.Leu145= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu150= Multiple submitters Inborn genetic diseases
  • p.Leu183= Multiple submitters Inborn genetic diseases
  • p.Leu196= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu540= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Leu689= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Phe105= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Phe367= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Phe448= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Pro309= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Pro311= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Pro387= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Pro696= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Ser146= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Ser204Leu Multiple submitters Inborn genetic diseases
  • p.Thr114= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Thr330= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Thr479= Multiple submitters Inborn genetic diseases
  • p.Thr706= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Thr97= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • p.Tyr359= Multiple submitters Inborn genetic diseases
  • p.Val578= Multiple submitters hereditary sensory and autonomic neuropathy type 4
  • c.10-67C>G Single submitter
  • c.1177+11C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1177+11del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1177+16_1177+28del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1177+16T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1177+31C>T Single submitter
  • c.1177+5_1177+12dup Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1177+69A>G Single submitter
  • c.1177+8G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1178-108C>T Single submitter
  • c.1196-10G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1196-13T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1196-16C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1196-16C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1196-4A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1196-9T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1251+10G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1251+15A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1251+19G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1251+7T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-10C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-11T>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-12G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-13del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-13T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-14_1252-13del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-15C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-18A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-20C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-4C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-6C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-6C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-7C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-8C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1252-9C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+10G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+12C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+17G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+18A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+19G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+20G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+7C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+7C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+8G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1355-13G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1355-13G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1355-19G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1355-20C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1355-20C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1355-6C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1355-9C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+12T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+12T>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+32C>G Single submitter
  • c.1501+35GT[12] Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+7G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+8G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+8G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1501+9C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-14G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-15T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-24G>A Single submitter
  • c.1502-5C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-5dup Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-6C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-7C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1502-8C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+12C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+12C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+13C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+15C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+16G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+16G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+17G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+17G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+18G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+18G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+19G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+21del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+7C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1633-13C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1633-14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1633-17C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1633-19C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1633-19C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1633-40C>T Single submitter
  • c.1633-6A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1805+11C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1805+12T>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1805+13G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1805+18C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1805+8C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-10T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-15T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-16C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-17C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-19C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-19C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-20T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-7T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1806-8G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2046+13T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2046+170C>T Single submitter
  • c.2046+19C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2046+20A>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2046+8T>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2046+9C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-11G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-12C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-13C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-18A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-19C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-20G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-20G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-7G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-7G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2047-91A>G Single submitter
  • c.212+11G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+12G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+13C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+13C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+15G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+16G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+17C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+18G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+18G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+19del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+20dup Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+237G>C Single submitter
  • c.212+27dup Single submitter
  • c.213-13G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-13G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-18C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-4A>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-5C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-5C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-6C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-7C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-8C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.213-9T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+10G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+13C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+18G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+19T>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+19T>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+8C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+9C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+9C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2206-12C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2206-13C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2206-5C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2206-6C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2206-7G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.287+11C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.287+16del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.287+17C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.287+18dup Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.288-10C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.288-11C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.288-12A>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.288-16C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.288-17C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.288-4_288-3del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.359+10G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.359+13A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.359+21del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.359+7G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.360-6_360-3del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.360-6C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.360-8G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.360-9C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.428+11G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.428+13G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.428+13G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.428+14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.428+18C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.428+8G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-13C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-189C>T Single submitter
  • c.429-18G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-20G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-452C>A Single submitter
  • c.429-4C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-5C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-7_429-6insT Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-7C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-8C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-9G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.429-9G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+11G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+12del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+13_574+17del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+17G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+9C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-13C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-15G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-20C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-4C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-5G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-65A>G Single submitter
  • c.575-8del Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.575-8G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+10C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+14C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+14C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+15G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+15G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+16C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+17T>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+373_717+397del Single submitter
  • c.717+5_717+9dup Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.717+86G>C Single submitter
  • c.717+8G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-18C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-18C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-18C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-18CT[2] Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-19C>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-19C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-206dup Single submitter
  • c.718-20C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.718-79G>A Single submitter
  • c.850+10A>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+11G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+15C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+17G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+17G>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+20C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+323C>T Single submitter
  • c.851-15C>T Single submitter hereditary sensory and autonomic neuropathy type 4

Uncertain significance 452

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

  • c.10-562dup Multiple submitters familial medullary thyroid carcinoma
  • p.Ala107Val Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala126Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala293Val Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala33Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala40Glu Multiple submitters familial medullary thyroid carcinoma ⚠
  • p.Ala635Thr Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala642Val Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala779Thr Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg119Cys Multiple submitters familial medullary thyroid carcinoma ⚠
  • p.Arg119His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg273Trp Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg314His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg347Cys Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg347Gly Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg452Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg452Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg507Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg559His Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg574His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg583Cys Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg583His Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg593Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg599Cys Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg686His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg702His Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg748Gln Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg748Leu Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg748Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg750Cys Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg766Trp Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg85Cys Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asn281Ser Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asn318Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn349Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp210Asn Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp270Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp380Gly Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp509His Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp86Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gln141Pro Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gln216Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gln495Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gln742Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln80Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu172Lys Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly166Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly208Glu Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly20Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly221Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly221Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly44Ser Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly461Arg Multiple submitters familial medullary thyroid carcinoma ⚠
  • p.Gly488Asp Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly595Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly714Asp Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly762Arg Multiple submitters Inborn genetic diseases
  • p.Gly796Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly89Ser Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly8Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.His151Gln Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.His772Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ile510Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu167Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu62Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu746_Glu755dup Multiple submitters Inborn genetic diseases
  • p.Leu79Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys174Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Lys197Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys447Asn Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Met375Ile Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Met539Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met671Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met671Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe468Leu Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Pro335Leu Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Pro407Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro494Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro696_Phe704del Multiple submitters Inborn genetic diseases
  • p.Ser101Asn Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ser146Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser235Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser30Pro Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ser475Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser477dup Multiple submitters Inborn genetic diseases
  • p.Ser672Asn Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Thr114Ser Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Thr134Asn Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Thr292Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr330Ala Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Thr741Met Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Trp132Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Trp132Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr791His Multiple submitters Inborn genetic diseases ⚠
  • p.Val106Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val263Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val282Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val321Met Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Val426Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val541Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val573Met Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Val578Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val630Met Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Val790Ile Multiple submitters Inborn genetic diseases ⚠
  • c.10-1075A>G Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • c.122+9T>C Single submitter ⚠
  • c.1251+3G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1354+4A>G Single submitter
  • c.1502-3C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+4A>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.1632+5G>T Single submitter
  • c.1805+6A>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+5G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.212+5G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.2205+3C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.287+5G>A Single submitter
  • c.428+3G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.574+5G>C Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.850+18C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.*39C>T Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.*56C>G Single submitter hereditary sensory and autonomic neuropathy type 4
  • c.*96G>A Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.77QHL[1] Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Ala110Val Single submitter Inborn genetic diseases ⚠
  • p.Ala126Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala126Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala203Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala24Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala31Val Single submitter ⚠
  • p.Ala337Pro Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala364Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala372Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala39Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala39Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala421Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala425Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala428Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala527Pro Single submitter ⚠
  • p.Ala55Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala635Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala636Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala65Pro Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala65Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala736Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ala779fs Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg104Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg116Trp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg157Leu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg161Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg314Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg33Gln Single submitter
  • p.Arg342Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg342Trp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg347His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg347Leu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg347Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg508Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg508Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg52Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg554Leu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg554Pro Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg554Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg559Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg574Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg574Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg583Leu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg599Leu Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Arg682Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg686Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg686Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg744Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg750His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg766Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Arg85Leu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asn202Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asn202Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asn262Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asn281Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn365His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asn401Lys Single submitter ⚠
  • p.Asn531Lys Single submitter ⚠
  • p.Asn655His Single submitter ⚠
  • p.Asn95Lys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp206Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp209Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp210Tyr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp23Asn Single submitter ⚠
  • p.Asp306Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp306Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp460Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp509Asn Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp537Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp53Asn Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp57Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp650His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp668His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp679Asn Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp679His Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Asp738Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp793Tyr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Cys300Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Cys300Tyr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Cys36Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys40Tyr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Cys442Trp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Cys50Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Cys529Tyr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Cys739Trp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gln136Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln141Arg Single submitter ⚠
  • p.Gln660His Single submitter Inborn genetic diseases ⚠
  • p.Gln76Lys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gln77_His78delinsHisTyr Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gln770Lys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu142Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu295Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu384Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu459Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu480Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu551Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu551Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu581Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu615Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu66Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu697Lys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu707Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu745Gly Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu747Lys Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Glu767Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu767Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Glu92Lys Single submitter ⚠
  • p.Gly102Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly102Val Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly137Asp Single submitter ⚠
  • p.Gly20Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly248Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly248Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly319Ala Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly32Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly357delinsAlaAla Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Gly368Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly368Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly423Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly44Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly473Ala Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly473Val Single submitter Inborn genetic diseases ⚠
  • p.Gly47Ala Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly483Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly519Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly620Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly623Asp Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly623Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly643Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly64Cys Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly64Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly685Ser Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly762Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly762Val Single submitter Inborn genetic diseases ⚠
  • p.Gly91Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Gly91Glu Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.His178Asp Single submitter Inborn genetic diseases ⚠
  • p.His185Tyr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.His297Tyr Single submitter Inborn genetic diseases ⚠
  • p.His353Pro Single submitter Inborn genetic diseases ⚠
  • p.His503Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.His571Gln Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ile228Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ile374Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ile572Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ile572Val Single submitter ⚠
  • p.Ile666Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Ile675Val Single submitter ⚠
  • p.Ile737Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu117Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu122Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu127= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Leu138Phe Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu222Val Single submitter Inborn genetic diseases ⚠
  • p.Leu247Pro Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu258Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu28Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu290Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu290Met Single submitter Inborn genetic diseases ⚠
  • p.Leu348His Single submitter Inborn genetic diseases ⚠
  • p.Leu432Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu437Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu563Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu68Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu71Phe Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu792Pro Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu795Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu82Met Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu84Val Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Leu96= Single submitter hereditary sensory and autonomic neuropathy type 4
  • p.Lys197Thr Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Lys261Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Lys482Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Lys506Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠
  • p.Lys547Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys609Arg Single submitter hereditary sensory and autonomic neuropathy type 4 ⚠