CCT5 — 369 ClinVar variants
All ClinVar germline CCT5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
1 Likely pathogenic · 8 Conflicting · 64 Benign · 1 Benign/Likely benign · 104 Likely benign · 191 Uncertain significance
Full CCT5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CCT5 p.Leu224Val
Likely pathogenic
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CCT5 p.Met4Val
Conflicting
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCT5 p.Arg400Leu
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg449Lys
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Asp453Asn
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Asp492His
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Gln481His
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Glu464Gly
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile395Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Leu299Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Lys293Ile
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met29Ile
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met29Thr
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met474Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Phe364Leu
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Pro164Ser
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ser539Pro
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Val157Phe
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Ala141Asp Uncertain significance Single submitter
-
CCT5 p.Ala336Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ala437Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg126Gln
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg14Cys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg183Gln
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg323His
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg400Gln
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg410Gln
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Arg410Pro Uncertain significance Single submitter
- CCT5 p.Arg480Lys Uncertain significance Single submitter
- CCT5 p.Asp221His Uncertain significance Single submitter
- CCT5 p.Asp23Glu Uncertain significance Single submitter
-
CCT5 p.Asp492Asn
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Gln360Lys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Gln472His Uncertain significance Single submitter
-
CCT5 p.Gln522Glu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Gln86Pro
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Glu347Val Uncertain significance Single submitter
-
CCT5 p.Gly174Asp
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Gly217Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.His147Gln
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Ile159Leu Uncertain significance Single submitter
-
CCT5 p.Ile19Met
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile250Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile385Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Ile387Leu Uncertain significance Single submitter
- CCT5 p.Leu31Pro Uncertain significance Single submitter
-
CCT5 p.Leu406Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Leu462Phe
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Lys160Asn
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Lys226Arg
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Lys232Glu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Lys263Gln Uncertain significance Single submitter
-
CCT5 p.Lys275Glu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Lys89Asn
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met29Leu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Met448Thr Uncertain significance Single submitter
-
CCT5 p.Met48Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Met501Thr Uncertain significance Single submitter
-
CCT5 p.Met61Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met81Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Phe345Leu Uncertain significance Single submitter
-
CCT5 p.Pro254Leu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Pro257Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ser518Pro
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Thr222Ala Uncertain significance Single submitter
-
CCT5 p.Thr222Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Thr337Ala
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Thr47Ala
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Thr521Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Tyr446His
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Val190Met
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Val228Met Uncertain significance Single submitter
-
CCT5 p.Val477Leu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Lys176Arg Uncertain significance No assertion criteria
Predictors split 65
The independent predictors disagree with each other — read with care.
-
CCT5 p.Ala246Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ala41Gly
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ala424Ser
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg142Cys
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg417His
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg478Gln
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Asp158Asn
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Glu146Val
Benign
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Glu163Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
CCT5 p.Glu351Lys
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.His147Arg
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile128Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile145Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile248Met
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile507Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile517Leu
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Lys378Glu
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Thr442Ala
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Ala189Ser Uncertain significance Single submitter
- CCT5 p.Ala246Gly Uncertain significance Single submitter
-
CCT5 p.Ala300Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ala430Gly
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Arg142His Uncertain significance Single submitter
- CCT5 p.Arg142Leu Uncertain significance Single submitter
-
CCT5 p.Arg201Gln
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Arg218Gly
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Asp415Asn
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Gln291His
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Glu272Lys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Glu287Gly
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Glu375Lys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Glu484Val Uncertain significance Single submitter
-
CCT5 p.Gly5Arg
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.His182Tyr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile131Met
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile250Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile374Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ile38Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Ile471Met Uncertain significance Single submitter
-
CCT5 p.Ile517Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Leu358Phe
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Leu406Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Lys150Glu Uncertain significance Single submitter
- CCT5 p.Lys399Gln Uncertain significance Single submitter
-
CCT5 p.Lys439Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Met448Val Uncertain significance Single submitter
-
CCT5 p.Met460Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met460Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met468Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Met91Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Phe234Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Pro441His
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Ser235Gly
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Ser270Cys Uncertain significance Single submitter
- CCT5 p.Ser363Leu Uncertain significance Single submitter
- CCT5 p.Ser3Phe Uncertain significance Single submitter
-
CCT5 p.Ser428Cys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Thr69Ser Uncertain significance Single submitter
-
CCT5 p.Val193Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Val204Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Val325Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Val342Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
-
CCT5 p.Val359Ile
Conflicting
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
- CCT5 p.Val383Ile Uncertain significance Single submitter
-
CCT5 p.Val524Ala
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy with spastic paraplegia
All CCT5 variants
Likely pathogenic 1
- p.Leu224Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
Conflicting classifications of pathogenicity 8
- c.166+8del Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.331+14A>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.531-13G>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Asn318= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Cys253= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Met4Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Thr475= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Val359Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
Benign 64
- c.105+171C>G Multiple submitters
- c.1179+109G>A Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1179+301A>G Multiple submitters
- c.1180-188G>A Multiple submitters
- c.1180-227C>T Multiple submitters
- c.1180-246G>A Multiple submitters
- c.1317+10C>A Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1317+40C>T Multiple submitters
- c.1498+156G>A Multiple submitters
- c.1498+191G>A Multiple submitters
- c.1498+266T>G Multiple submitters
- c.1498+28A>G Multiple submitters
- c.1498+28del Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+30G>A Multiple submitters
- c.1498+31G>A Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+36_1498+38del Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+38A>G Multiple submitters
- c.331+133A>C Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.331+184A>G Multiple submitters
- c.331+71T>C Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.332-18C>G Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.530+100C>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.531-98G>A Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.874-16G>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.993+227C>G Multiple submitters
- c.993+42C>T Multiple submitters
- c.994-130C>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.-10T>C Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.-23G>A Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1172G>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*181C>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*382C>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*383A>G Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*513G>C Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*593A>G Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*67A>G Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*824C>G Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*856A>C Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*866A>C Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala398= Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala450= Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Arg142= Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Glu146Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Gly66= Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ile362Met Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.106-140C>T Single submitter
- c.1318-205A>C Single submitter
- c.1498+299G>A Single submitter
- c.331+146_331+147insCT Single submitter
- c.332-19_332-16del Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.332-246T>C Single submitter
- c.874-248_874-247insT Single submitter
- c.874-328A>G Single submitter
- c.994-238G>C Single submitter
- c.994-264T>G Single submitter
- c.-78_-69del Single submitter
- c.-79_-69del Single submitter
- c.-80_-69del Single submitter
- c.-81_-69del Single submitter
- c.*1377C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1400A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*320T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*487C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*670T>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
Benign/Likely benign 1
- p.Leu353= Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
Likely benign 104
- c.106-6C>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Gly357Asp Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ile335= Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu251= Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.106-10_106-7del Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.106-10G>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.106-12T>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1179+12A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1180-4T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1317+10C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1317+14G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1318-4C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1318-8C>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1318-8C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+15C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+16G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+18C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+9C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1499-14C>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1499-20A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.166+14A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.166+18C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.166+19G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.166+7G>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.167-13C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.167-16A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.331+13A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.332-14T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.332-16G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.332-17T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.332-20G>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.530+8T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.531-13_531-11del Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.723+10T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.724-4A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.724-6C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.724-9C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.873+11C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.873+12C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.874-9T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.993+10T>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.993+14C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.993+15G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.994-11A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.994-19C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.994-5A>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.994-6A>C Single submitter
- c.*1042T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1087A>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala120= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala134= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala186= Single submitter
- p.Ala192= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala2= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala246= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala321= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala33= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala350= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala430= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala437= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala452= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Arg27= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Arg381= Single submitter
- p.Asn416= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Asp100= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Asp158= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Asp203= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Asp23= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Asp308= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Asp453= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Gln515= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Glu11= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Glu32= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Glu347= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Glu436= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Glu541= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Gly216= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Gly217= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Gly354= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Gly74= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.His403= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ile159Lys Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ile387= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ile394= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu112= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu314= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu348= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu402= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu412= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu431= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Lys483= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Lys96= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Phe16= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Phe355= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Thr106= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Thr162= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Thr172= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Thr6= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Thr69= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Tyr12= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Tyr280= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Val143Ile Single submitter
- p.Val155= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Val190= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
Uncertain significance 191
- c.531-3C>T Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1126T>A Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*567G>A Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala246Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ala41Gly Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ala424Ser Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg142Cys Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg400Leu Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg417His Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg449Lys Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg478Gln Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Asp158Asn Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Asp453Asn Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Asp492His Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Gln481His Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Glu163Lys Multiple submitters hereditary spastic paraplegia ⚠
- p.Glu351Lys Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Glu464Gly Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.His147Arg Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile128Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile145Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile248Met Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile395Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile507Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile517Leu Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Leu299Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys293Ile Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys378Glu Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met1Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Met29Ile Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met29Thr Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met474Val Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Phe364Leu Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Pro164Ser Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ser539Pro Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Thr442Ala Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val157Phe Multiple submitters hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- c.1317+10_1317+11delinsAC Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1317+3A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1498+3G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.1499-10T>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.167-13C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.531-10T>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.994-13C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.994-17C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.994-4T>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.-112G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.-125A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.-48C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.-56C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.-59A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1174C>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1239C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1257A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1289T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1294A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1382C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1401G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1404T>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1405T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1427G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1483G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*1603G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*161C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*176G>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*205T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*25A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*345T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*347T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*386T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*420T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*566C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*5A>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*69C>T Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*749A>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*756C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*775C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*776T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*797G>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*841T>C Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*882C>G Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- c.*889C>A Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ala141Asp Single submitter ⚠
- p.Ala189Ser Single submitter ⚠
- p.Ala246Gly Single submitter ⚠
- p.Ala300Thr Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ala336Thr Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ala430Gly Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ala437Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg126Gln Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg142His Single submitter ⚠
- p.Arg142Leu Single submitter ⚠
- p.Arg14Cys Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg183Gln Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg201Gln Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg218Gly Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg323His Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg400Gln Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg410Gln Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Arg410Pro Single submitter ⚠
- p.Arg480Lys Single submitter ⚠
- p.Asp221His Single submitter ⚠
- p.Asp23Glu Single submitter ⚠
- p.Asp415Asn Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Asp492Asn Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Cys377Ser Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Gln291His Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Gln360Lys Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Gln472His Single submitter ⚠
- p.Gln522Glu Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Gln86Pro Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Glu272Lys Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Glu287Gly Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Glu347Val Single submitter ⚠
- p.Glu375Lys Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Glu484Val Single submitter ⚠
- p.Gly174Asp Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Gly217Ser Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Gly5Arg Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.His147Gln Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.His182Tyr Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile131Met Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile159Leu Single submitter ⚠
- p.Ile19Met Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile250Ser Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile250Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile374Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile385Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile387Leu Single submitter ⚠
- p.Ile38Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ile471Met Single submitter ⚠
- p.Ile517Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Leu313fs Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Leu31Pro Single submitter ⚠
- p.Leu358Phe Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Leu406Ser Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Leu406Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Leu462Phe Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys150Glu Single submitter ⚠
- p.Lys160Asn Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys226Arg Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys232Glu Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys263Gln Single submitter ⚠
- p.Lys275Glu Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys399Gln Single submitter ⚠
- p.Lys439Thr Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys89Asn Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met1Arg Single submitter
- p.Met1Leu Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Met29Leu Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met448Thr Single submitter ⚠
- p.Met448Val Single submitter ⚠
- p.Met460Thr Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met460Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met468Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met48Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met501Thr Single submitter ⚠
- p.Met61Thr Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met81Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Met91Val Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Phe234Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Phe306= Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Phe345Leu Single submitter ⚠
- p.Pro254Leu Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Pro257Thr Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Pro441His Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ser235Gly Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ser270Cys Single submitter ⚠
- p.Ser363Leu Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Ser428Cys Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ser518Pro Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Ter542Gly Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Ter542MetextTer? Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia
- p.Thr222Ala Single submitter ⚠
- p.Thr222Ser Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Thr337Ala Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Thr47Ala Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Thr521Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Thr69Ser Single submitter ⚠
- p.Tyr446His Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val190Met Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val193Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val204Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val228Met Single submitter ⚠
- p.Val325Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val342Ile Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val383Ile Single submitter ⚠
- p.Val477Leu Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Val524Ala Single submitter hereditary sensory and autonomic neuropathy with spastic paraplegia ⚠
- p.Lys176Arg No assertion criteria ⚠