NGF — 190 ClinVar variants
All ClinVar germline NGF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 11 Conflicting · 8 Benign · 4 Benign/Likely benign · 56 Likely benign · 108 Uncertain significance
Full NGF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NGF p.Ala57Val
Conflicting
Single submitter
Inborn genetic diseases
-
NGF p.Ala64Val
Conflicting
Single submitter
Inborn genetic diseases
-
NGF p.Arg75Lys
Conflicting
Single submitter
Inborn genetic diseases
-
NGF p.Arg83Cys
Conflicting
Single submitter
Inborn genetic diseases
-
NGF p.Gly15Ser
Conflicting
Single submitter
Inborn genetic diseases
-
NGF p.Val185Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NGF p.Ala11Thr
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ala54Thr
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg121Trp
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg130Gly
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg180Gln
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg49His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Arg62Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Arg62His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Arg68Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Arg68His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Arg81Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Arg83His
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg95Cys
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Asp45Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Gln66Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Glu132Lys
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Gly188Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Lys171Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Met213Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Phe12Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Pro112Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Ser138Gly
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Val141Leu
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ala11Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ala149Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ala149Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ala18Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ala28Glu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ala58Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Arg115Gly
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg130Lys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg221Leu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg224Trp
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg49Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg62Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg80Trp
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg86Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Arg95Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Asn114His
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Asn164Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
- NGF p.Asn69His Uncertain significance Single submitter
- NGF p.Asp226Gly Uncertain significance Single submitter
-
NGF p.Gln172Arg
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Gln17Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Gln92Arg
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Glu106Asp
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Glu106Lys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Glu156Lys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Glu96Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Gly108Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Gly161Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Gly191Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Gly65Arg
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
- NGF p.His36Asn Uncertain significance Single submitter
-
NGF p.His42Asp
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.His42Tyr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ile192Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ile32Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ile59Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Ile70Val
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Leu13Arg
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Leu211Pro
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Leu4Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Leu8Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Lys236Gln
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Met158Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Phe113Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
- NGF p.Phe222Cys Uncertain significance Single submitter
-
NGF p.Pro112His
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Pro182Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Pro20Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NGF p.Pro55Ala Uncertain significance Single submitter
-
NGF p.Pro94Thr
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ser124Phe
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
- NGF p.Ser168Arg Uncertain significance Single submitter
-
NGF p.Ser2Pro
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Thr147Ser
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Thr177Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
- NGF p.Thr203Lys Uncertain significance Single submitter
-
NGF p.Thr227Lys
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Thr46Ala
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Thr46Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Trp37Arg
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Val141Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Val230Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Val63Ala
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Val63Met
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Ser187Asn
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
Predictors split 11
The independent predictors disagree with each other — read with care.
-
NGF p.Ala18Val
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg49Cys
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Arg52Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Arg86His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NGF p.Phe133Leu
Uncertain significance
Multiple submitters
hereditary sensory and autonomic neuropathy type 5
- NGF p.His205Asp Uncertain significance Single submitter
-
NGF p.Phe170Leu
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Phe89Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NGF p.Ser234Ile
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Val143Ala
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
-
NGF p.Val163Met
Uncertain significance
Single submitter
hereditary sensory and autonomic neuropathy type 5
All NGF variants
Pathogenic 2
- p.Arg81Ter Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Thr227fs Single submitter peripheral neuropathy
Likely pathogenic 1
- p.Arg221Trp Multiple submitters NGF-related disorder
Conflicting classifications of pathogenicity 11
- c.-13+14G>A Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ala57Val Single submitter Inborn genetic diseases ⚠
- p.Ala58= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ala64Val Single submitter Inborn genetic diseases ⚠
- p.Arg75Lys Single submitter Inborn genetic diseases ⚠
- p.Arg83Cys Single submitter Inborn genetic diseases ⚠
- p.Gly15Ser Single submitter Inborn genetic diseases ⚠
- p.Pro184= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Thr31= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Val159= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Val185Ile Single submitter Inborn genetic diseases ⚠
Benign 8
- c.-137+150T>G Multiple submitters
- p.Ala18= Multiple submitters hereditary sensory and autonomic neuropathy type 5
- p.Ala35Val Multiple submitters hereditary sensory and autonomic neuropathy type 5
- c.-13+145C>A Single submitter
- c.-13+228G>A Single submitter
- c.-136-167C>T Single submitter
- c.-367C>T Single submitter
- p.Gln92= Single submitter hereditary sensory and autonomic neuropathy type 5
Benign/Likely benign 4
- p.Ala58Val Multiple submitters Inborn genetic diseases
- p.Arg80Gln Multiple submitters hereditary sensory and autonomic neuropathy type 5
- p.Val26= Multiple submitters hereditary sensory and autonomic neuropathy type 5
- p.Val72Met Multiple submitters hereditary sensory and autonomic neuropathy type 5
Likely benign 56
- c.-12-118G>C Multiple submitters
- p.Arg95His Multiple submitters Inborn genetic diseases
- p.Gly131= Multiple submitters hereditary sensory and autonomic neuropathy type 5
- p.Thr147= Multiple submitters hereditary sensory and autonomic neuropathy type 5
- p.Tyr200= Multiple submitters hereditary sensory and autonomic neuropathy type 5
- p.Val107= Multiple submitters hereditary sensory and autonomic neuropathy type 5
- c.-120C>T Single submitter
- c.-13+185T>C Single submitter
- c.-137+13G>T Single submitter
- p.Ala210= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ala219= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ala228= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Arg118= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Arg190= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Arg221= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Arg224= Single submitter
- p.Arg50= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Arg62= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Arg80= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Asp73= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Cys179= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Glu106= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Glu156= Single submitter
- p.Glu162= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Glu23= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Gly161= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Gly191= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Gly215= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Gly65= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.His117= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.His21= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.His30= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ile127= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ile152= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ile192= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Leu160= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Leu82= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Leu88= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Phe105= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Pro55= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Pro93= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser124= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser124= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser134= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser140= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser187= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser2= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser53= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ser90= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Thr203= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Thr227= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Thr67= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Tyr6= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Val139= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Val238= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Val72= Single submitter hereditary sensory and autonomic neuropathy type 5
Uncertain significance 108
- p.Ala11Thr Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala18Val Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala54Thr Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg121Trp Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg130Gly Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg180Gln Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg49Cys Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg49His Multiple submitters Inborn genetic diseases ⚠
- p.Arg52Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg62Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg62His Multiple submitters Inborn genetic diseases ⚠
- p.Arg68Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg68His Multiple submitters Inborn genetic diseases ⚠
- p.Arg81Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg83His Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg86His Multiple submitters Inborn genetic diseases ⚠
- p.Arg95Cys Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Asp45Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln66Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu132Lys Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Gly188Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys171Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met213Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe12Cys Multiple submitters Inborn genetic diseases ⚠
- p.Phe133Leu Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Pro112Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser138Gly Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Val141Leu Multiple submitters hereditary sensory and autonomic neuropathy type 5 ⚠
- c.-12-1G>C Single submitter hereditary sensory and autonomic neuropathy type 5
- c.*120T>G Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Ala11Val Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala149Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala149Thr Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala18Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala28Glu Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala58Ser Single submitter Inborn genetic diseases ⚠
- p.Arg115Gly Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg130Lys Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg221Leu Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg224Trp Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg49Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg62Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg75Gly Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Arg80Trp Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Arg86Pro Single submitter Inborn genetic diseases ⚠
- p.Arg95Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Asn114His Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Asn164Ile Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Asn69His Single submitter ⚠
- p.Asp226Gly Single submitter ⚠
- p.Asp45fs Single submitter
- p.Cys229= Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Gln172Arg Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Gln17Arg Single submitter Inborn genetic diseases ⚠
- p.Gln92Arg Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Glu106Asp Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Glu106Lys Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Glu156Lys Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Glu96Gly Single submitter Inborn genetic diseases ⚠
- p.Gly108Ser Single submitter Inborn genetic diseases ⚠
- p.Gly15Arg Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Gly161Ala Single submitter Inborn genetic diseases ⚠
- p.Gly191Val Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Gly65Arg Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.His205Asp Single submitter ⚠
- p.His36Asn Single submitter ⚠
- p.His42Asp Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.His42Tyr Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ile192Thr Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ile32Thr Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ile59Lys Single submitter Inborn genetic diseases ⚠
- p.Ile70Val Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Leu13Arg Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Leu211Pro Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Leu4Phe Single submitter Inborn genetic diseases ⚠
- p.Leu8Pro Single submitter Inborn genetic diseases ⚠
- p.Lys236Gln Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Met158Ile Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Phe113Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Phe170Leu Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Phe222Cys Single submitter ⚠
- p.Phe89Leu Single submitter Inborn genetic diseases ⚠
- p.Pro112His Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Pro182Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Pro20Leu Single submitter Inborn genetic diseases ⚠
- p.Pro55Ala Single submitter ⚠
- p.Pro85Ala Single submitter
- p.Pro85Ser Single submitter hereditary sensory and autonomic neuropathy type 5
- p.Pro94Thr Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ser124Phe Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ser168Arg Single submitter ⚠
- p.Ser234Ile Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ser2Pro Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Thr147Ser Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Thr177Ile Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Thr203Lys Single submitter ⚠
- p.Thr227Lys Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Thr46Ala Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Thr46Asn Single submitter Inborn genetic diseases ⚠
- p.Trp37Arg Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Val141Met Single submitter Inborn genetic diseases ⚠
- p.Val143Ala Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Val163Met Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Val230Ala Single submitter Inborn genetic diseases ⚠
- p.Val63Ala Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Val63Met Single submitter hereditary sensory and autonomic neuropathy type 5 ⚠
- p.Ala228fs No assertion criteria Charcot-Marie-Tooth disease
- p.Ser187Asn No assertion criteria Charcot-Marie-Tooth disease ⚠