SPTLC2 — 679 ClinVar variants

All ClinVar germline SPTLC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 243 flagged for review →

5 Pathogenic · 3 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 21 Conflicting · 113 Benign · 20 Benign/Likely benign · 173 Likely benign · 342 Uncertain significance

Full SPTLC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 243

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 3

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

SPTLC2 p.Arg183Trp Pathogenic/Likely pathogenic Multiple submitters
SPTLC2-related disorder
SPTLC2 p.Gln44Arg Pathogenic Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asp214Asn Pathogenic No assertion criteria
hypercholesterolemia, familial, 1

Predictors agree, ClinVar conflicts 8

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

SPTLC2 p.Arg183Gln Conflicting Single submitter
Inborn genetic diseases
SPTLC2 p.Arg225Ser Conflicting Single submitter
Inborn genetic diseases
SPTLC2 p.Asn60Lys Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu260Lys Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile166Val Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Lys391Arg Conflicting Single submitter
Inborn genetic diseases
SPTLC2 p.Val359Met Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Val406Ala Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 165

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 165

SPTLC2 p.Ala234Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala332Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg12Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg136Trp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg207Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg302Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg326His Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg357Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg484Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg484Trp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg543Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Asp430His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Cys139Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Cys188Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Cys254Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Gln152Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Glu119Lys Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu24Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu4Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly43Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His101Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.His154Asn Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile210Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile256Met Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Ile277Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Ile324Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Ile45Met Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu54Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Met149Ile Uncertain significance Multiple submitters
SPTLC2 p.Met149Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met373Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Pro58Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Thr13Met Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Thr241Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Thr241Met Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Thr376Met Uncertain significance Multiple submitters
SPTLC2-related disorder
SPTLC2 p.Thr556Met Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Tyr122Cys Uncertain significance Multiple submitters
SPTLC2 p.Tyr178Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Tyr337His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Val250Ile Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Val80Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Ala144Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala192Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala193Ser Uncertain significance Single submitter
SPTLC2 p.Ala193Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala21Gly Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Ala275Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala34Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala351Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala37Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala39Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala405Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala41Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala42Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala514Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg11Cys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg11Gly Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Arg145Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg15Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg207Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg207Trp Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg2Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg304Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg31Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg88Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asn133Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asn17Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asn184Asp Uncertain significance Single submitter
SPTLC2 p.Asn22Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asn60Asp Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asp117Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asp155Asn Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asp294Tyr Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Asp344Glu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asp369His Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Asp533Asn Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Cys10Arg Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Cys425Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Cys438Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gln152Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gln189Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gln286Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gln418Lys Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Gln440Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu119Val Uncertain significance Single submitter
SPTLC2 p.Glu221Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu289Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu368Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu393Asp Uncertain significance Single submitter
SPTLC2 p.Glu437Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu4Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu527Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly180Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly274Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly28Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly353Ser Uncertain significance Single submitter
SPTLC2 p.Gly356Ala Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly435Val Uncertain significance Single submitter
SPTLC2 p.Gly483Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly53Arg Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Gly77Arg Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.His100Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His101Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His154Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His154Pro Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His216Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His263Arg Uncertain significance Single submitter
SPTLC2 p.His401Asn Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His46Pro Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.His516Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile130Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile166Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile167Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile171Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile246Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile246Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile460Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu249Pro Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Leu291Pro Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu291Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu547Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu83Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu87His Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu91Ser Uncertain significance Single submitter
SPTLC2 p.Lys161Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Lys194Asn Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Lys436Glu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Lys56Glu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met320Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met373Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met423Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met68Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Phe226Leu Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Phe280Cys Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Phe498Ser Uncertain significance Single submitter
SPTLC2 p.Pro3Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Pro5Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Pro5Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Pro67Arg Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Ser140Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ser175Pro Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ser273Leu Uncertain significance Single submitter
SPTLC2 p.Ser319Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ser348Asn Uncertain significance Single submitter
SPTLC2 p.Ser433Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Thr206Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Thr432Ile Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Thr523Ile Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Thr523Pro Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C

Predictors split 67

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

SPTLC2 p.Ala231Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Ala264Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala515Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala515Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg399Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg452His Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg541Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Arg541His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asp369Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Cys254Ser Benign/Likely benign Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly23Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly431Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Lys168Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Pro546Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPTLC2 p.Ser384Phe Pathogenic/Likely pathogenic Multiple submitters
SPTLC2-related disorder
SPTLC2 p.Thr409Met Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala144Val Uncertain significance Single submitter
SPTLC2 p.Ala231Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala248Val Uncertain significance Single submitter
SPTLC2 p.Ala339Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala351Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ala408Thr Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Ala443Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Arg225Met Uncertain significance Single submitter
SPTLC2 p.Arg357Gln Conflicting Single submitter
Inborn genetic diseases
SPTLC2 p.Arg452Cys Conflicting Single submitter
Inborn genetic diseases
SPTLC2 p.Arg543Trp Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asn120Asp Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asn177Asp Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Asp214His Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Asp430Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Cys204Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Glu107Ala Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Glu190Gly Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Glu464Lys Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Glu485Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly186Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly202Glu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly228Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Gly382Ser Uncertain significance Single submitter
SPTLC2 p.Gly492Ser Uncertain significance Single submitter
SPTLC2 p.Ile296Val Uncertain significance Single submitter
SPTLC2 p.Ile312Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile331Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Ile388Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Leu471Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Lys281Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Lys526Glu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met173Val Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Met244Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met373Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met475Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Met68Arg Conflicting Single submitter
juvenile amyotrophic lateral sclerosis
SPTLC2 p.Phe63Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Pro354Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Pro354Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Pro413Ser Uncertain significance Single submitter
Inborn genetic diseases
SPTLC2 p.Pro58Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Thr409Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Thr421Ile Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Thr82Ile Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Trp94Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Tyr156Cys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Tyr340Cys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Tyr461Cys Uncertain significance Single submitter
SPTLC2 p.Val359Ala Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C
SPTLC2 p.Val76Gly Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 1C

All SPTLC2 variants

Pathogenic 5

p.Ala182Pro Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala383Val Single submitter
p.Gln44Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asp214Asn No assertion criteria hypercholesterolemia, familial, 1 ⚠
p.Ile504Phe No assertion criteria NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE

Pathogenic/Likely pathogenic 3

p.Arg183Trp Multiple submitters SPTLC2-related disorder ⚠
p.Gly382Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Ser384Phe Multiple submitters SPTLC2-related disorder ⚠

Likely pathogenic 2

p.Ala182Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly382Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C

Conflicting classifications of pathogenicity 21

c.1304-5T>G Single submitter Inborn genetic diseases
c.132+4C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1439+4C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.851-5T>C Single submitter Inborn genetic diseases
c.*5357A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*946C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala41_Ala42dup Single submitter Inborn genetic diseases
p.Arg183Gln Single submitter Inborn genetic diseases ⚠
p.Arg225Ser Single submitter Inborn genetic diseases ⚠
p.Arg357Gln Single submitter Inborn genetic diseases ⚠
p.Arg452Cys Single submitter Inborn genetic diseases ⚠
p.Asn177Asp Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asn490= Single submitter Inborn genetic diseases
p.Asn60Lys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu260Lys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly480= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ile166Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Lys391Arg Single submitter Inborn genetic diseases ⚠
p.Met68Arg Single submitter juvenile amyotrophic lateral sclerosis ⚠
p.Val359Met Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Val406Ala Single submitter Inborn genetic diseases ⚠

Benign 113

c.1176+28A>G Multiple submitters
c.1177-49G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.1303+193A>G Multiple submitters
c.1304-34G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.1440-63G>A Multiple submitters
c.327+89T>G Multiple submitters
c.328-30A>C Multiple submitters
c.328-54T>A Multiple submitters
c.482+223T>A Multiple submitters
c.482+248C>T Multiple submitters
c.632-49del Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.632-84T>C Multiple submitters
c.756+69G>C Multiple submitters
c.851-225T>C Multiple submitters
c.851-30G>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.957-132G>A Multiple submitters
c.957-148C>A Multiple submitters
c.957-90C>T Multiple submitters
c.-181C>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.-30G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.-43C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*1134T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*1655G>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*1742C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*2159A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*2177A>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*2302A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*2699C>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*2702G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*3524A>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*3612T>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*3637G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*3931G>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*4446G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*4645A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*5531A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*6080C>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*6T>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Asn262= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Pro476= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.1177-317G>A Single submitter
c.1303+233C>G Single submitter
c.1303+266A>G Single submitter
c.1303+51C>T Single submitter
c.1304-139C>G Single submitter
c.1304-14342C>T Single submitter
c.1304-149A>G Single submitter
c.133-101del Single submitter
c.133-221dup Single submitter
c.133-300del Single submitter
c.1440-258C>T Single submitter
c.1569+297_1569+298del Single submitter
c.327+250A>C Single submitter
c.631+130del Single submitter
c.632-311C>G Single submitter
c.756+10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.756+144dup Single submitter
c.756+160_756+161del Single submitter
c.756+161del Single submitter
c.756+333C>T Single submitter
c.757-250G>A Single submitter
c.851-293G>A Single submitter
c.851-321C>T Single submitter
c.956+308_956+312del Single submitter
c.957-20A>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.957-245G>A Single submitter
c.-187C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.-427G>A Single submitter
c.-42A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1014C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1221A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1440G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1709G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1729G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2186A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2338G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2375C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2645C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2749A>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*288C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2962C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2966G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3034C>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3224C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3274C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3526A>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3666T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3812C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*397G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4030T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4037G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4039T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4108G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4131G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4198C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4276G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4431G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4478C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4503A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4842A>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4914C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*513C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*523C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5358T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5395C>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5799C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5892C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*6253T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*727C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg136Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg543= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.His401= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu222= Single submitter neuropathy, hereditary sensory and autonomic, type 1C

Benign/Likely benign 20

c.1176+7G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.1569+8G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.-38C>T Multiple submitters
p.Ala41_Ala42del Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Cys204= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Cys254Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly169Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Gly350= Multiple submitters Inborn genetic diseases
p.Gly483= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Leu255= Multiple submitters Inborn genetic diseases
p.Leu535= Multiple submitters Inborn genetic diseases
p.Lys538= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Pro413= Multiple submitters Inborn genetic diseases
p.Pro58= Multiple submitters Inborn genetic diseases
p.Ser187= Multiple submitters Inborn genetic diseases
p.Thr241= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Thr376= Multiple submitters Inborn genetic diseases
p.Thr409= Multiple submitters Inborn genetic diseases
p.Thr555Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Val416Ala Multiple submitters Inborn genetic diseases

Likely benign 173

c.1176+98C>T Multiple submitters
c.1440-10C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.1440-5T>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.483-58T>C Multiple submitters
c.483-6G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.756+17T>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.850+34G>A Multiple submitters
c.956+10C>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.957-28AT[6] Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.957-44C>G Multiple submitters
c.-30G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.-30G>C Multiple submitters
c.*6T>C Multiple submitters
p.Ala144= Multiple submitters Inborn genetic diseases
p.Ala332= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Arg207= Multiple submitters Inborn genetic diseases
p.Cys438Tyr Multiple submitters Inborn genetic diseases
p.Gln300= Multiple submitters Inborn genetic diseases
p.Gln440= Multiple submitters Inborn genetic diseases
p.Glu345= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Gly353= Multiple submitters Inborn genetic diseases
p.His100= Multiple submitters Inborn genetic diseases
p.Ile148= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Ile491= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Leu73= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Phe381= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Ser33Arg Multiple submitters Inborn genetic diseases
p.Thr556= Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Tyr199= Multiple submitters Inborn genetic diseases
c.1176+14G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1176+20G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1176+9G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1177-14T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1303+10dup Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1303+9T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-10G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-12G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-13C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-151A>G Single submitter
c.1304-20C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-4C>G Single submitter
c.1304-4C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-5dup Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.132+10del Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.132+12C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.132+9G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.133-13A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1439+17A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1440-16G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1440-30T>G Single submitter
c.1569+12C>T Single submitter
c.1569+16C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1569+8G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1570-107C>T Single submitter
c.1570-19T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1570-219C>G Single submitter
c.327+10A>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.327+7G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.328-13C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.328-17T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.483-11T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.483-14C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.483-18T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.483-19T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.483-7T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.631+12C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.631+19T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.632-11T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.632-73_632-69del Single submitter
c.756+8dup Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.757-10G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.757-14del Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.757-18G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.851-154C>T Single submitter
c.851-18C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.851-18C>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.851-6C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.851-9G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.956+83A>G Single submitter
c.957-18T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.957-7T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala182= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala192= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala234= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala339= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala35Val Single submitter Inborn genetic diseases
p.Ala36= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala37= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala42= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala514= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg11= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg136= Single submitter
p.Arg145Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg26= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg302= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg305= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg357= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg447= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg88= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Asn27= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Asn60= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Asp553= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Asp562= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Cys10= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Cys254= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Cys8= Single submitter
p.Gln429= Single submitter
p.Glu106= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Glu190= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Glu221= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Glu321= Single submitter
p.Glu444= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Glu558= Single submitter
p.Gly186= Single submitter
p.Gly236= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly322= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly386= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly428= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly43Ala Single submitter
p.Gly7= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly77= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly79= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly85= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ile138= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ile279= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ile312= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ile459= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu126= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu249= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu272= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu291= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu292= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu311= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu327= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu512= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu54= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu91= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Lys281Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Lys454= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Lys488= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Phe111= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Phe510= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Phe84= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Pro137= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Pro354= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Pro367= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Pro551= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Pro67= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ser113= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ser140= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ser175= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ser273= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ser33= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ser540= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ter563= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Thr303= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Thr355= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Thr74= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Tyr122= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Tyr162= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Tyr55= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Tyr93= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val141= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val146= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val203= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val25Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val360= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val415= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val439Ile Single submitter Inborn genetic diseases
p.Val469= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val493= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val494= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Val72= Single submitter

Uncertain significance 342

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

c.1176+6C>T Multiple submitters Inborn genetic diseases
c.1439+3A>G Multiple submitters
c.756+3A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.-160A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
c.*100G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C
p.Ala231Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala234Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala264Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala332Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala515Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala515Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg12Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg136Trp Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg207Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg302Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg326His Multiple submitters Inborn genetic diseases ⚠
p.Arg357Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg399Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg452His Multiple submitters Inborn genetic diseases ⚠
p.Arg484Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg484Trp Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg541Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg541His Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg543Gln Multiple submitters Inborn genetic diseases ⚠
p.Asp369Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp430His Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Cys139Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys188Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Cys254Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln152Glu Multiple submitters Inborn genetic diseases ⚠
p.Glu119Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu24Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu4Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly23Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly431Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly43Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His101Arg Multiple submitters Inborn genetic diseases ⚠
p.His154Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile210Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile256Met Multiple submitters Inborn genetic diseases ⚠
p.Ile277Val Multiple submitters Inborn genetic diseases ⚠
p.Ile324Val Multiple submitters Inborn genetic diseases ⚠
p.Ile45Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Leu54Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys168Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met149Ile Multiple submitters ⚠
p.Met149Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met373Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro546Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro58Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Thr13Met Multiple submitters Inborn genetic diseases ⚠
p.Thr241Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr241Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Thr376Met Multiple submitters SPTLC2-related disorder ⚠
p.Thr409Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Thr556Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Tyr122Cys Multiple submitters ⚠
p.Tyr178Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr337His Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Val250Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Val80Ile Multiple submitters Inborn genetic diseases ⚠
c.1176+4A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-1G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1304-7T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.132+3A>G Single submitter Hereditary neuropathy or pain disorder
c.132+4C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.132+5G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.132+5G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.133-12C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1439+5G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.1570-13T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.327+5C>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.631+4A>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.756+6A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.956+5T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.957-1G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.-37C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1077A>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1153T>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1185G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1193G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*135C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1457C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1521G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*152A>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1612G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1622G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1658G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1832T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1936A>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*1997T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2275C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2314C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2622A>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2672A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2777G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2794C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2807C>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2847T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*2960C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*303G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3084A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3261C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3286C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3315C>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3348G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3380A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3396A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3454C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3457T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*365A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3668G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3785G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3809T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*3819C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4052G>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4107C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4115G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*419C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4402G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4682C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4755C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4825C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4948A>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*4950A>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5008G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5032T>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5303A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*536T>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*542T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5510C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5852A>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*5915T>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*6018A>C Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*6068C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*6169G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*695T>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*697C>G Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*809C>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*823G>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*838G>A Single submitter neuropathy, hereditary sensory and autonomic, type 1C
c.*946C>T Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala144Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala144Val Single submitter ⚠
p.Ala192Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala193Ser Single submitter ⚠
p.Ala193Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala21Gly Single submitter Inborn genetic diseases ⚠
p.Ala231Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala248Val Single submitter ⚠
p.Ala275Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala339Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala34Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala351Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala351Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala37Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala39_Ala42del Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ala39Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala405Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala408Thr Single submitter Inborn genetic diseases ⚠
p.Ala41Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala42Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala443Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala514Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ala524Ile Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg11Cys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg11Gly Single submitter Inborn genetic diseases ⚠
p.Arg12_Thr13insArg Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg12_Thr13insLeu Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg145Lys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg15Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg207Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg207Trp Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg225Met Single submitter ⚠
p.Arg2Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg304Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg31Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg484fs Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg541fs Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg543Trp Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Arg88fs Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Arg88Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asn120Asp Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asn133Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asn135Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Asn17Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asn184Asp Single submitter ⚠
p.Asn22Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asn60Asp Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asp117Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asp147Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Asp155Asn Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asp214His Single submitter Inborn genetic diseases ⚠
p.Asp294Tyr Single submitter Inborn genetic diseases ⚠
p.Asp344Glu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asp369His Single submitter Inborn genetic diseases ⚠
p.Asp430Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Asp533Asn Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Cys10_Arg11insCys Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Cys10Arg Single submitter Inborn genetic diseases ⚠
p.Cys204Gly Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Cys425Tyr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Cys438Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Cys438fs Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Cys8Ter Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gln152Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gln189Lys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gln286Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gln418Lys Single submitter Inborn genetic diseases ⚠
p.Gln440Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu107Ala Single submitter Inborn genetic diseases ⚠
p.Glu119Val Single submitter ⚠
p.Glu190Gly Single submitter Inborn genetic diseases ⚠
p.Glu217Ter Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Glu221Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu289Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu368Lys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu393Asp Single submitter ⚠
p.Glu437Lys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu464Lys Single submitter Inborn genetic diseases ⚠
p.Glu485Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu4Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Glu527Lys Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly180Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly186Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly202Glu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly228Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly274Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly28Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly353Ser Single submitter ⚠
p.Gly356Ala Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly382Ser Single submitter ⚠
p.Gly435Val Single submitter ⚠
p.Gly483Ter Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly483Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Gly492Ser Single submitter ⚠
p.Gly52Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Gly53Arg Single submitter Inborn genetic diseases ⚠
p.Gly77Arg Single submitter Inborn genetic diseases ⚠
p.His100Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His101Tyr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His154Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His154Pro Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His216Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His263Arg Single submitter ⚠
p.His401Asn Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His46Pro Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.His516Tyr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile130Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile166Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile167Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile171Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile210= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Ile246Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile246Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile296Val Single submitter ⚠
p.Ile312Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile331Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile388Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile460Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Ile504Thr Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu249Pro Single submitter Inborn genetic diseases ⚠
p.Leu291Pro Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Leu291Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Leu352fs Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Leu471Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Leu547Gln Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Leu83Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Leu87His Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Leu91Ser Single submitter ⚠
p.Lys109= Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Lys161Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Lys194Asn Single submitter Inborn genetic diseases ⚠
p.Lys281Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Lys436Glu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Lys488Asn Single submitter Inborn genetic diseases
p.Lys526Glu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Lys56Glu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met173Val Single submitter Inborn genetic diseases ⚠
p.Met244Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met320Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met373Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met373Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met423Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met475Val Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Met68_Leu69insThrProMet Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Met68Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Phe226Leu Single submitter Inborn genetic diseases ⚠
p.Phe280Cys Single submitter Inborn genetic diseases ⚠
p.Phe498Ser Single submitter ⚠
p.Phe63Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Pro354fs Single submitter neuropathy, hereditary sensory and autonomic, type 1C
p.Pro354Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Pro354Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Pro3Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Pro413Ser Single submitter Inborn genetic diseases ⚠
p.Pro58Arg Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Pro5Leu Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Pro5Ser Single submitter neuropathy, hereditary sensory and autonomic, type 1C ⚠
p.Pro67Arg Single submitter Inborn genetic diseases ⚠