Sugi Variant

Sugi Variant/SPTLC1

SPTLC1 — 536 ClinVar variants

All ClinVar germline SPTLC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 231 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 20 Conflicting · 13 Benign · 19 Benign/Likely benign · 171 Likely benign · 299 Uncertain significance

Full SPTLC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 231

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 2

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 144

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 75

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

All SPTLC1 variants

Pathogenic 7

  • p.Ala20Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A
  • p.Cys133Trp Multiple submitters SPTLC1-related disorder
  • p.Cys133Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A
  • p.Ser331Tyr Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Ala339Ser Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ser331Phe Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • p.Leu38Arg No assertion criteria amyotrophic lateral sclerosis 27, juvenile ⚠

Pathogenic/Likely pathogenic 2

  • p.Leu39del Multiple submitters amyotrophic lateral sclerosis 27, juvenile
  • p.Val144Asp Multiple submitters amyotrophic lateral sclerosis 27, juvenile

Likely pathogenic 5

  • p.Tyr23Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Arg329Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • p.Cys133Phe Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu358Gln Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Phe40_Ser41del Single submitter amyotrophic lateral sclerosis

Conflicting classifications of pathogenicity 20

  • c.1329-9T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.165+4C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.58-9C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.690+6_690+58delinsTATG Single submitter Inborn genetic diseases
  • p.Ala123Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala310Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Ala468Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg236Pro Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg405Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg430Cys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gly371Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile314Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu390Phe Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Lys262Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys465Glu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Met214Val Single submitter neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Phe40Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser338Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val130Leu Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Val70Phe Single submitter Inborn genetic diseases ⚠

Benign 13

  • c.1136+12A>G Multiple submitters Charcot-Marie-Tooth disease
  • c.1137-23GT[6] Multiple submitters Charcot-Marie-Tooth disease
  • c.560+16G>C Multiple submitters Charcot-Marie-Tooth disease
  • c.1136+9del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.781-17G>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.*1009G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*1154T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*1170T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*178T>A Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*190A>C Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*483A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*490A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • p.Tyr18His Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠

Benign/Likely benign 19

  • c.1082-7C>A Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1136+14A>T Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1254+10C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.1255-7C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.427+446C>T Multiple submitters Inborn genetic diseases
  • c.781-6A>G Multiple submitters Charcot-Marie-Tooth disease
  • c.985-5C>T Multiple submitters Inborn genetic diseases
  • c.*124A>G Multiple submitters
  • p.Ala429= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Ala470= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Arg151Leu Multiple submitters Charcot-Marie-Tooth disease
  • p.Cys370= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Glu218= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Glu400= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Gly129= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A
  • p.Gly167= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A
  • p.Gly387Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A
  • p.Tyr265= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Val471Ile Multiple submitters hereditary sensory and autonomic neuropathy type 1

Likely benign 171

  • c.1137-6C>T Multiple submitters Inborn genetic diseases
  • c.1254+11G>A Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1254+8del Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1328+10C>T Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1328+8G>C Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1328+8G>T Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.261-10T>C Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.261-18A>G Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.427+15T>C Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.560+16G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.57+13C>G Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.58-19G>C Multiple submitters Charcot-Marie-Tooth disease
  • c.781-13A>G Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Arg203= Multiple submitters Inborn genetic diseases
  • p.Arg321= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Arg410= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Asn296= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Asn354Ser Multiple submitters Inborn genetic diseases
  • p.Gln407= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A
  • p.Gly131= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Gly87= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A
  • p.His211= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Ile84= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Leu69= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Ser331= Multiple submitters Charcot-Marie-Tooth disease
  • p.Thr449= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Val185= Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1081+10T>C Single submitter
  • c.1081+12T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1082-18C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1082-5T>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1082-5T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1082-6A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1136+10A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1137-10C>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1137-11C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1254+10C>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1254+15_1254+18del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1254+7_1254+8insAAGGAAATTGTAG Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1255-11T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1255-12T>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1255-16C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1255-17T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1255-18T>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1255-4A>G Single submitter
  • c.1255-6C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1328+14A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1328+798C>T Single submitter
  • c.1329-17T>A Single submitter
  • c.1329-4T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1329-8G>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.165+10T>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.165+15C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.165+16T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.165+17_165+18del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.165+19_165+20del Single submitter
  • c.165+9T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.166-15C>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.166-5T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.166-7C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.260+18C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.260+19C>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.261-13A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.261-14dup Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.261-5C>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.261-6C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.261-9C>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.354+12A>G Single submitter
  • c.355-15T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.427+1G>A Single submitter
  • c.427+571C>T Single submitter
  • c.427+572G>A Single submitter
  • c.428-2299T>G Single submitter
  • c.428-8T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.560+12_560+13del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.560+15C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.561-16T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.561-18G>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.561-4G>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.57+12G>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.57+15A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.57+20C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.58-23_58-20del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.58-7C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.690+7_690+55del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.690+9C>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.691-20C>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.780+11A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.780+9C>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.780+9C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.781-11A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.781-18C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.888+11C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.888+12T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.888+18A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-13_889-11del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-18C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-4G>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-6C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-7C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.984+9T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.985-16A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.985-17C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.*445A>G Single submitter
  • c.*95C>T Single submitter
  • p.Ala161= Single submitter Charcot-Marie-Tooth disease
  • p.Ala177= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ala22= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ala352= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Arg151His Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Arg405= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Asn296Ser Single submitter Inborn genetic diseases
  • p.Asn309= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Asn96= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Cys192= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gln428= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu308= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu351= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu388= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu406= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu451= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu62= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu63= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gly294= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gly332= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gly371= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gly403= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gly97= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ile101Val Single submitter Inborn genetic diseases
  • p.Ile226= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ile271= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ile303= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ile314= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ile373= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu111= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu152= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu17= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu208= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu217= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu221= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu247= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu263= Single submitter
  • p.Leu302= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu311= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu341= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu366= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu439= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu52= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Lys222= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Lys437= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Lys465= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Phe103= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Phe317= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Phe323= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Pro258= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Pro343= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Pro88= Single submitter
  • p.Ser165= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ser322Ala Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ser340= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr141= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr158= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr238= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr251= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr3= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr5= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Tyr164= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Val261= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Val409= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Val446= Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1082-8dup No assertion criteria SPTLC1-related disorder

Uncertain significance 299

  • c.1137-1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1255-3C>T Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1329-1G>T Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.1329-2A>T Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.690+1G>A Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • c.889-5G>A Multiple submitters Inborn genetic diseases
  • p.Ala104Pro Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala104Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Ala121Gly Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala153Ser Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala312Asp Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala346fs Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Arg151Cys Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg219Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg219Ter Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Arg233His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg236His Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Arg240Cys Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg240His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg287Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg287Ter Multiple submitters amyotrophic lateral sclerosis
  • p.Arg329Ter Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg405His Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Arg49Ter Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Asp150Gly Multiple submitters ⚠
  • p.Cys133Arg Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Cys438Arg Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu218Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu223Ter Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Glu433Ter Multiple submitters Inborn genetic diseases
  • p.Glu436del Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly387Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.His211Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His24Arg Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.His292Gln Multiple submitters SPTLC1-related disorder ⚠
  • p.Ile254fs Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Ile271Leu Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile271Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile303Thr Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile325Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Ile325Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Leu221Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Leu353Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu80Val Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys126Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys127Glu Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys230Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys75Asn Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Met1Val Multiple submitters hereditary sensory and autonomic neuropathy type 1
  • p.Met214Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Met307Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met356Val Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro343Leu Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser165Leu Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser278Ala Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser340Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ser462Tyr Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Ser90Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr158Ala Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Thr158Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Thr402Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr449Met Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Tyr248Cys Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val117Asp Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val117Ile Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val130Met Multiple submitters hereditary sensory and autonomic neuropathy type 1 ⚠
  • c.1081+3A>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1082-2A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.1082-7delinsAT Single submitter
  • c.1136+6T>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.1254+5G>A Single submitter Inborn genetic diseases
  • c.1328+917G>A Single submitter
  • c.165+5G>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.165+6A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.166-18A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.260+1G>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.355-2del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.428-1G>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.428-1G>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.560+4A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.57+5G>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.690+6A>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.691-2A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.888+3A>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.888+5G>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-18C>G Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-3C>A Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.889-3C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.984+5del Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.985-2A>C Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.985-3C>T Single submitter hereditary sensory and autonomic neuropathy type 1
  • c.-19C>T Single submitter
  • c.-27C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*1093G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*12G>A Single submitter amyotrophic lateral sclerosis 27, juvenile
  • c.*1307C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*200G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*451G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*451G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*503C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*631G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*750C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • c.*797T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • p.Ala161Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala16Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala174Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala191Thr Single submitter amyotrophic lateral sclerosis 27, juvenile ⚠
  • p.Ala269Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala269Ter Single submitter
  • p.Ala269Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala305Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala339Thr Single submitter ⚠
  • p.Ala346Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala346Pro Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala348Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala348Val Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ala352Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala352Thr Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ala352Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala376Pro Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala393Thr Single submitter ⚠
  • p.Ala425Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala429Val Single submitter ⚠
  • p.Ala461Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala468Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ala4Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg116Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg151Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg181fs Single submitter
  • p.Arg203Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg203His Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg219fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Arg233Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg236Cys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg236Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg239Gln Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg405Pro Single submitter neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Arg422Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Arg445Trp Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Asn114Lys Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Asp113Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Asp143Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Asp143Val Single submitter ⚠
  • p.Asp183Asn Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Asp188Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys318Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Cys419Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gln229= Single submitter
  • p.Gln229Glu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gln328Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gln333Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gln397Leu Single submitter ⚠
  • p.Gln407Ter Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gln418Ter Single submitter
  • p.Gln469Glu Single submitter ⚠
  • p.Gln47fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gln47Ter Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gln7Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gln7His Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gln7Lys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu160Ter Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Glu218Lys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu227Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu259Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu357Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu388Lys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu388Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu400Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu406Lys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu435Gly Single submitter ⚠
  • p.Glu436Lys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Glu454fs Single submitter
  • p.Glu48Gly Single submitter ⚠
  • p.Glu58Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly110Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly110Glu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gly129fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Gly182Glu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gly283Glu Single submitter ⚠
  • p.Gly316Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gly320Ser Single submitter ⚠
  • p.Gly332Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gly334Ala Single submitter ⚠
  • p.Gly361Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly379Asp Single submitter SPTLC1-related disorder ⚠
  • p.Gly387Trp Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Gly97Glu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.His211Asp Single submitter ⚠
  • p.His395fs Single submitter
  • p.Ile163Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile171Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile175Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile195Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile206Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile254Val Single submitter Inborn genetic diseases ⚠
  • p.Ile26Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile271Val Single submitter Inborn genetic diseases ⚠
  • p.Ile295Phe Single submitter ⚠
  • p.Ile297Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile300Met Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile300Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile303Phe Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile314Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile350Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile362Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile373_His374del Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ile415Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile424Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile464Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ile84Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu109Phe Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu109Pro Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu10Val Single submitter Inborn genetic diseases ⚠
  • p.Leu146Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu148= Single submitter neuropathy, hereditary sensory and autonomic, type 1A
  • p.Leu148Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu148Val Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Leu217Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu344fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu39Ile Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Leu439Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu69Val Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Leu80Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys154Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys157Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys207Met Single submitter Inborn genetic diseases ⚠
  • p.Lys230Asn Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Lys262Met Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys367Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys384Glu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys42delinsAspProLeuAspAsnGlnThrSerPheLeuTer Single submitter amyotrophic lateral sclerosis 27, juvenile
  • p.Lys42Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys434Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys465Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Lys98Glu Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Met1fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Met249Val Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Met420Arg Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Met420Thr Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Met420Val Single submitter Inborn genetic diseases ⚠
  • p.Phe108Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro232Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro343Ala Single submitter ⚠
  • p.Pro360Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro440Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Pro440Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro441Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro442Ala Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro71Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro78Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro88Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Pro89Thr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser179Phe Single submitter ⚠
  • p.Ser278Leu Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser304Gly Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser313Phe Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser322Pro Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser391Tyr Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser41Cys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ser443Thr Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ser462Phe Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Ter474= Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Ter474Tyr Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr170Ala Single submitter neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Thr170Ile Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Thr238Ala Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Thr253Asn Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Thr3Ser Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Thr453fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr463Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr5Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr5del Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr93fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr93Pro Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Thr93Ser Single submitter Inborn genetic diseases ⚠
  • p.Trp34Gly Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Tyr128Cys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Tyr166His Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Tyr178Cys Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Tyr265Ter Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Tyr267Ter Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Tyr293Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr335Asp Single submitter ⚠
  • p.Tyr44Ter Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Val11Gly Single submitter Inborn genetic diseases ⚠
  • p.Val14Ala Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val244Ala Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val324Ile Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val385Met Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val409Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • p.Val409Ile Single submitter ⚠
  • p.Val447Met Single submitter Inborn genetic diseases
  • p.Val450Met Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val85fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Val85Ile Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val94fs Single submitter hereditary sensory and autonomic neuropathy type 1
  • p.Val94Met Single submitter hereditary sensory and autonomic neuropathy type 1 ⚠
  • p.Val9Ile Single submitter neuropathy, hereditary sensory and autonomic, type 1A ⚠
  • c.427+449G>C No assertion criteria microcephaly