NEFH — 1101 ClinVar variants
All ClinVar germline NEFH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 55 Conflicting · 46 Benign · 26 Benign/Likely benign · 303 Likely benign · 661 Uncertain significance
Full NEFH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll NEFH variants
Pathogenic 2
- p.Lys1003fs Single submitter
- p.Pro1008fs No assertion criteria Charcot-Marie-Tooth disease axonal type 2CC
Pathogenic/Likely pathogenic 2
- p.Asp1004fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Lys1020fs Multiple submitters NEFH-related disorder
Likely pathogenic 6
- c.883+1G>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
- p.Glu720Ter Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Glu918fs Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Lys1015fs Single submitter Inborn genetic diseases
- p.Ter1021GluextTer? Single submitter
- p.Leu216fs No assertion criteria Charcot-Marie-Tooth disease axonal type 2CC
Conflicting classifications of pathogenicity 55
- c.883+7A>G Single submitter
- c.884-1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.466VTEE[1] Single submitter Inborn genetic diseases
- p.746SPEKAK[1] Single submitter Inborn genetic diseases
- p.Ala1017Thr Single submitter Inborn genetic diseases
- p.Ala16Glu Single submitter Inborn genetic diseases
- p.Ala29Ser Single submitter Inborn genetic diseases
- p.Ala400Val Single submitter Inborn genetic diseases
- p.Ala554_Pro567del Single submitter Inborn genetic diseases
- p.Ala592Ser Single submitter
- p.Ala90Val Single submitter Inborn genetic diseases
- p.Ala951Val Single submitter Inborn genetic diseases
- p.Arg133Gln Single submitter
- p.Arg312Cys Single submitter Inborn genetic diseases
- p.Arg346Cys Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Arg352Cys Single submitter
- p.Asn390Thr Single submitter Inborn genetic diseases
- p.Asp261Gly Single submitter Inborn genetic diseases
- p.Gln136Ter Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Gln254His Single submitter Inborn genetic diseases
- p.Gln381Ter Single submitter Inborn genetic diseases
- p.Glu291Ter Single submitter Inborn genetic diseases
- p.Glu441Lys Single submitter Inborn genetic diseases
- p.Glu543fs Single submitter Inborn genetic diseases
- p.Glu582Lys Single submitter Inborn genetic diseases
- p.Glu658_Glu659del Single submitter Inborn genetic diseases
- p.Glu664_Pro669del Single submitter Inborn genetic diseases
- p.Glu700Ala Single submitter Inborn genetic diseases
- p.Glu729Lys Single submitter Inborn genetic diseases
- p.Glu783Gly Single submitter Inborn genetic diseases
- p.Gly243Ser Single submitter Inborn genetic diseases
- p.Gly46Arg Single submitter Inborn genetic diseases
- p.Gly86Ser Single submitter NEFH-related disorder
- p.Ile814Val Single submitter Inborn genetic diseases
- p.Lys114Thr Single submitter Inborn genetic diseases
- p.Lys449Asn Single submitter Inborn genetic diseases
- p.Lys790del Single submitter Inborn genetic diseases
- p.Lys857del Single submitter NEFH-related disorder
- p.Lys948Glu Single submitter Inborn genetic diseases
- p.Phe47= Single submitter
- p.Pro562_Pro567del Single submitter Inborn genetic diseases
- p.Pro562Ala Single submitter amyotrophic lateral sclerosis type 1
- p.Pro649Ser Single submitter
- p.Pro788Thr Single submitter
- p.Pro885Ala Single submitter Inborn genetic diseases
- p.Ser347Cys Single submitter Inborn genetic diseases
- p.Ser580Phe Single submitter NEFH-related disorder
- p.Ser620Phe Single submitter Inborn genetic diseases
- p.Ser634Pro Single submitter Inborn genetic diseases
- p.Ser776Cys Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Thr642Met Single submitter
- p.Thr926Ile Single submitter Inborn genetic diseases
- p.Tyr360Cys Single submitter Inborn genetic diseases
- p.Val150Ile Single submitter
- p.Val670Glu Single submitter Inborn genetic diseases
Benign 46
- c.1083+182C>G Multiple submitters
- c.1208+48G>A Multiple submitters
- c.1208+54C>T Multiple submitters
- c.883+57T>C Multiple submitters
- c.*201G>T Multiple submitters
- p.646_651AKSPEK[3] Multiple submitters amyotrophic lateral sclerosis type 1
- p.746_751SPEKAK[1] Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala253= Multiple submitters
- p.Ala400= Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Ala41= Multiple submitters
- p.Ala7= Multiple submitters
- p.Glu463Lys Multiple submitters amyotrophic lateral sclerosis type 1
- p.Glu99= Multiple submitters
- p.Leu185= Multiple submitters
- p.Pro615Leu Multiple submitters amyotrophic lateral sclerosis type 1
- p.Pro952= Multiple submitters
- p.Thr501_Lys502dup Multiple submitters
- p.Thr51= Multiple submitters
- p.Val928= Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- c.1083+213_1083+214del Single submitter
- c.1083+214del Single submitter
- c.1083+214dup Single submitter
- c.1083+254TTTA[10] Single submitter
- c.1083+254TTTA[11] Single submitter
- c.1083+254TTTA[12] Single submitter
- c.1083+254TTTA[7] Single submitter
- c.1083+254TTTA[8] Single submitter
- c.1084-175C>T Single submitter
- c.1084-244G>A Single submitter
- c.1209-16G>A Single submitter
- c.1209-271C>T Single submitter
- c.883+233G>A Single submitter
- c.883+283C>T Single submitter
- c.884-84del Single submitter
- c.884-84dup Single submitter
- p.Ala251= Single submitter
- p.Ala257= Single submitter
- p.Glu523Asp Single submitter
- p.Leu145= Single submitter
- p.Lys745delinsProGlnTer Single submitter Inborn genetic diseases
- p.Phe108= Single submitter
- p.Pro17Leu Single submitter
- p.Pro635= Single submitter
- p.Ser301= Single submitter
- p.Ser787Arg Single submitter
- p.Thr905Ile Single submitter
Benign/Likely benign 26
- c.1208+8G>A Multiple submitters peripheral neuropathy
- c.883+16G>A Multiple submitters
- p.Ala222Val Multiple submitters Inborn genetic diseases
- p.Ala27= Multiple submitters
- p.Ala380Thr Multiple submitters Inborn genetic diseases
- p.Ala672Glu Multiple submitters Inborn genetic diseases
- p.Ala674= Multiple submitters
- p.Arg352Ser Multiple submitters Inborn genetic diseases
- p.Asp919= Multiple submitters
- p.Gln244= Multiple submitters
- p.Glu482= Multiple submitters
- p.Glu658_Lys665del Multiple submitters Inborn genetic diseases
- p.Glu673= Multiple submitters
- p.Glu714Ala Multiple submitters Inborn genetic diseases
- p.Glu918Gly Multiple submitters
- p.Glu960Asp Multiple submitters
- p.Gly249Ser Multiple submitters
- p.Leu104= Multiple submitters
- p.Lys647Asn Multiple submitters
- p.Lys867Asn Multiple submitters Inborn genetic diseases
- p.Met142Thr Multiple submitters Inborn genetic diseases
- p.Pro575Ser Multiple submitters
- p.Pro581= Multiple submitters
- p.Pro595Ser Multiple submitters
- p.Pro904= Multiple submitters
- p.Pro911Ser Multiple submitters Inborn genetic diseases
Likely benign 303
Showing the top 300 by review status; the full set is in the sitemap.
- c.1083+194G>A Multiple submitters
- c.1208+7C>T Multiple submitters
- p.Ala197= Multiple submitters
- p.Ala198= Multiple submitters
- p.Ala270= Multiple submitters
- p.Ala314= Multiple submitters
- p.Ala379= Multiple submitters
- p.Ala688= Multiple submitters
- p.Ala770= Multiple submitters
- p.Ala799= Multiple submitters
- p.Ala9= Multiple submitters
- p.Arg346= Multiple submitters
- p.Glu577= Multiple submitters
- p.Glu664Asp Multiple submitters Inborn genetic diseases
- p.Glu687= Multiple submitters
- p.Glu868= Multiple submitters
- p.Glu876del Multiple submitters Inborn genetic diseases
- p.Gly127= Multiple submitters
- p.Gly155= Multiple submitters
- p.His234= Multiple submitters
- p.Leu242= Multiple submitters
- p.Leu263= Multiple submitters
- p.Leu28= Multiple submitters
- p.Leu349= Multiple submitters
- p.Leu80= Multiple submitters
- p.Leu803= Multiple submitters
- p.Lys375= Multiple submitters
- p.Lys525Asn Multiple submitters Inborn genetic diseases
- p.Lys605= Multiple submitters
- p.Lys707= Multiple submitters
- p.Pro655= Multiple submitters
- p.Pro663= Multiple submitters
- p.Pro705= Multiple submitters
- p.Pro719= Multiple submitters
- p.Pro733= Multiple submitters
- p.Pro769= Multiple submitters
- p.Pro838Ala Multiple submitters Inborn genetic diseases
- p.Pro933Ser Multiple submitters Inborn genetic diseases
- p.Ser718= Multiple submitters
- p.Thr259= Multiple submitters
- c.1083+10G>A Single submitter
- c.1083+11G>A Single submitter
- c.1083+20A>G Single submitter
- c.1084-251A>G Single submitter
- c.1084-8C>T Single submitter
- c.1208+11C>T Single submitter
- c.1208+14G>A Single submitter
- c.1208+16G>C Single submitter
- c.1208+20T>A Single submitter
- c.1209-15T>A Single submitter
- c.1209-17C>T Single submitter
- c.1209-19_1209-15del Single submitter
- c.883+10C>T Single submitter
- c.883+129A>G Single submitter
- c.883+13G>C Single submitter
- c.883+15G>A Single submitter
- c.883+15G>C Single submitter
- c.883+17G>T Single submitter
- c.883+18T>G Single submitter
- c.883+19G>C Single submitter
- c.883+19G>T Single submitter
- c.883+20G>A Single submitter
- c.883+20G>C Single submitter
- c.883+20G>T Single submitter
- c.883+241A>T Single submitter
- c.883+8G>C Single submitter
- c.884-4C>A Single submitter
- p.Ala1016= Single submitter
- p.Ala103= Single submitter
- p.Ala141= Single submitter
- p.Ala162= Single submitter
- p.Ala163= Single submitter
- p.Ala179= Single submitter
- p.Ala195= Single submitter
- p.Ala203= Single submitter
- p.Ala209= Single submitter
- p.Ala212= Single submitter
- p.Ala222= Single submitter
- p.Ala262= Single submitter
- p.Ala282= Single submitter
- p.Ala29= Single submitter
- p.Ala303= Single submitter
- p.Ala310Thr Single submitter
- p.Ala334= Single submitter
- p.Ala355= Single submitter
- p.Ala380= Single submitter
- p.Ala394= Single submitter
- p.Ala401= Single submitter Inborn genetic diseases
- p.Ala542= Single submitter
- p.Ala572= Single submitter
- p.Ala576= Single submitter
- p.Ala584= Single submitter
- p.Ala598= Single submitter
- p.Ala60= Single submitter
- p.Ala604= Single submitter
- p.Ala612= Single submitter Inborn genetic diseases
- p.Ala618= Single submitter
- p.Ala626= Single submitter Inborn genetic diseases
- p.Ala638= Single submitter
- p.Ala646= Single submitter
- p.Ala660= Single submitter
- p.Ala694= Single submitter
- p.Ala70= Single submitter
- p.Ala708= Single submitter
- p.Ala716= Single submitter
- p.Ala722= Single submitter
- p.Ala730= Single submitter
- p.Ala736= Single submitter
- p.Ala744= Single submitter
- p.Ala756= Single submitter
- p.Ala807= Single submitter
- p.Ala842Val Single submitter Inborn genetic diseases
- p.Ala912= Single submitter
- p.Arg123= Single submitter
- p.Arg139= Single submitter
- p.Arg168= Single submitter
- p.Arg231= Single submitter
- p.Arg232= Single submitter
- p.Arg299= Single submitter
- p.Arg352= Single submitter
- p.Arg64= Single submitter
- p.Asn122= Single submitter
- p.Asn390= Single submitter
- p.Asp186= Single submitter
- p.Asp266= Single submitter
- p.Asp309= Single submitter
- p.Asp368= Single submitter
- p.Asp75= Single submitter
- p.Asp858= Single submitter
- p.Gln1002= Single submitter
- p.Gln134= Single submitter
- p.Gln183= Single submitter
- p.Gln221= Single submitter
- p.Gln256His Single submitter Inborn genetic diseases
- p.Glu152= Single submitter
- p.Glu152Asp Single submitter
- p.Glu172= Single submitter
- p.Glu196= Single submitter
- p.Glu225= Single submitter
- p.Glu237= Single submitter
- p.Glu258= Single submitter
- p.Glu273= Single submitter
- p.Glu279= Single submitter
- p.Glu302= Single submitter
- p.Glu458= Single submitter
- p.Glu469Lys Single submitter
- p.Glu500Ala Single submitter Inborn genetic diseases
- p.Glu529= Single submitter
- p.Glu534= Single submitter
- p.Glu543= Single submitter
- p.Glu548= Single submitter
- p.Glu563= Single submitter
- p.Glu611= Single submitter
- p.Glu659= Single submitter
- p.Glu678= Single submitter
- p.Glu701= Single submitter
- p.Glu743= Single submitter
- p.Glu772= Single submitter
- p.Glu773= Single submitter
- p.Glu797= Single submitter
- p.Glu813= Single submitter
- p.Glu826= Single submitter
- p.Glu828del Single submitter Inborn genetic diseases
- p.Glu837= Single submitter
- p.Glu863= Single submitter
- p.Glu875= Single submitter
- p.Glu907Ter Single submitter Inborn genetic diseases
- p.Glu924Ala Single submitter
- p.Glu97= Single submitter
- p.Gly12= Single submitter
- p.Gly143= Single submitter
- p.Gly20= Single submitter
- p.Gly249= Single submitter
- p.Gly35= Single submitter
- p.Gly46= Single submitter
- p.Gly5= Single submitter
- p.Gly69= Single submitter
- p.Gly83= Single submitter
- p.Gly86= Single submitter
- p.His180= Single submitter
- p.Ile112= Single submitter
- p.Ile178= Single submitter
- p.Ile245= Single submitter
- p.Leu101= Single submitter
- p.Leu11= Single submitter
- p.Leu132= Single submitter
- p.Leu158= Single submitter Inborn genetic diseases
- p.Leu160= Single submitter
- p.Leu169= Single submitter
- p.Leu202= Single submitter
- p.Leu216= Single submitter
- p.Leu223= Single submitter
- p.Leu230= Single submitter
- p.Leu24= Single submitter
- p.Leu271= Single submitter
- p.Leu405= Single submitter
- p.Leu77= Single submitter
- p.Leu982= Single submitter
- p.Lys1006= Single submitter
- p.Lys219= Single submitter
- p.Lys305= Single submitter
- p.Lys437= Single submitter
- p.Lys452= Single submitter
- p.Lys479= Single submitter
- p.Lys517Thr Single submitter Inborn genetic diseases
- p.Lys551= Single submitter
- p.Lys585= Single submitter
- p.Lys657_Glu658insAlaLysSerProGluLys Single submitter
- p.Lys679= Single submitter
- p.Lys681= Single submitter
- p.Lys731fs Single submitter Inborn genetic diseases
- p.Lys751= Single submitter
- p.Lys794= Single submitter
- p.Lys817= Single submitter
- p.Lys840= Single submitter
- p.Lys856= Single submitter
- p.Lys937= Single submitter
- p.Met255Val Single submitter Inborn genetic diseases
- p.Phe205= Single submitter
- p.Phe4= Single submitter
- p.Pro1007Leu Single submitter Inborn genetic diseases
- p.Pro1007Ser Single submitter Inborn genetic diseases
- p.Pro14= Single submitter
- p.Pro512= Single submitter
- p.Pro519= Single submitter
- p.Pro527= Single submitter
- p.Pro561= Single submitter
- p.Pro595= Single submitter
- p.Pro615= Single submitter
- p.Pro629= Single submitter
- p.Pro677= Single submitter
- p.Pro691= Single submitter
- p.Pro697= Single submitter
- p.Pro733fs Single submitter Inborn genetic diseases
- p.Pro739= Single submitter
- p.Pro747= Single submitter
- p.Pro830= Single submitter
- p.Pro838= Single submitter
- p.Pro84= Single submitter
- p.Pro848= Single submitter
- p.Pro872= Single submitter
- p.Pro906= Single submitter
- p.Pro969= Single submitter
- p.Ser124= Single submitter
- p.Ser269= Single submitter
- p.Ser289= Single submitter
- p.Ser341= Single submitter
- p.Ser39= Single submitter
- p.Ser421= Single submitter
- p.Ser440= Single submitter
- p.Ser511= Single submitter
- p.Ser518= Single submitter Inborn genetic diseases
- p.Ser54= Single submitter
- p.Ser540= Single submitter
- p.Ser552= Single submitter
- p.Ser566Phe Single submitter
- p.Ser574= Single submitter
- p.Ser580= Single submitter
- p.Ser586= Single submitter
- p.Ser606= Single submitter
- p.Ser61= Single submitter
- p.Ser662= Single submitter
- p.Ser668= Single submitter
- p.Ser676= Single submitter
- p.Ser682= Single submitter
- p.Ser710= Single submitter
- p.Ser724= Single submitter
- p.Ser983= Single submitter
- p.Ser998= Single submitter
- p.Thr286= Single submitter
- p.Thr308= Single submitter
- p.Thr319= Single submitter
- p.Thr338= Single submitter
- p.Thr37= Single submitter
- p.Thr454= Single submitter
- p.Thr53= Single submitter
- p.Thr642= Single submitter
- p.Thr732= Single submitter
- p.Thr74= Single submitter
- p.Thr957= Single submitter
- p.Thr981= Single submitter
- p.Tyr111= Single submitter
- p.Tyr26= Single submitter
- p.Val115= Single submitter
- p.Val150= Single submitter
- p.Val157= Single submitter
- p.Val238= Single submitter
- p.Val391= Single submitter
- p.Val447= Single submitter
- p.Val55= Single submitter
- p.Val578= Single submitter
- p.Val58= Single submitter
- p.Val670= Single submitter
- p.Val698Glu Single submitter Inborn genetic diseases
- p.Val726= Single submitter
- p.Val820= Single submitter
- p.Val824= Single submitter
- p.Val833= Single submitter
- p.Val874= Single submitter
- p.Val882= Single submitter
Uncertain significance 661
Showing the top 300 by review status; the full set is in the sitemap.
- c.1208+4A>T Multiple submitters
- c.1209-2A>G Multiple submitters Inborn genetic diseases
- p.Ala103Thr Multiple submitters Inborn genetic diseases
- p.Ala141Thr Multiple submitters Inborn genetic diseases
- p.Ala189Val Multiple submitters Inborn genetic diseases
- p.Ala195Thr Multiple submitters NEFH-related disorder
- p.Ala203Thr Multiple submitters Inborn genetic diseases
- p.Ala220Val Multiple submitters Inborn genetic diseases
- p.Ala304Pro Multiple submitters Inborn genetic diseases
- p.Ala314Val Multiple submitters Inborn genetic diseases
- p.Ala363Asp Multiple submitters
- p.Ala369Thr Multiple submitters
- p.Ala401Thr Multiple submitters Inborn genetic diseases
- p.Ala506Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Ala588Thr Multiple submitters Inborn genetic diseases
- p.Ala604Thr Multiple submitters Inborn genetic diseases
- p.Ala708Asn Multiple submitters Inborn genetic diseases
- p.Ala71Thr Multiple submitters Inborn genetic diseases
- p.Ala722Ser Multiple submitters
- p.Ala778Thr Multiple submitters
- p.Ala799Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Ala920Thr Multiple submitters Inborn genetic diseases
- p.Arg168Leu Multiple submitters
- p.Arg190Pro Multiple submitters Inborn genetic diseases
- p.Arg231Gly Multiple submitters
- p.Arg294Gly Multiple submitters Inborn genetic diseases
- p.Arg323Cys Multiple submitters
- p.Arg323His Multiple submitters
- p.Arg352His Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Arg383Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Arg412Trp Multiple submitters
- p.Arg52Gln Multiple submitters Inborn genetic diseases
- p.Arg66His Multiple submitters Inborn genetic diseases
- p.Asp261Val Multiple submitters
- p.Asp356Asn Multiple submitters Inborn genetic diseases
- p.Asp368Glu Multiple submitters Inborn genetic diseases
- p.Asp899Gly Multiple submitters Inborn genetic diseases
- p.Asp935His Multiple submitters Inborn genetic diseases
- p.Gln134fs Multiple submitters
- p.Gln254Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Gln256Arg Multiple submitters Inborn genetic diseases
- p.Gln284Pro Multiple submitters Inborn genetic diseases
- p.Gln460Arg Multiple submitters Inborn genetic diseases
- p.Gln460Lys Multiple submitters Inborn genetic diseases
- p.Glu1009Lys Multiple submitters Inborn genetic diseases
- p.Glu172Lys Multiple submitters Inborn genetic diseases
- p.Glu188Asp Multiple submitters Inborn genetic diseases
- p.Glu194Asp Multiple submitters Inborn genetic diseases
- p.Glu196Gly Multiple submitters Inborn genetic diseases
- p.Glu236Lys Multiple submitters
- p.Glu258Lys Multiple submitters Inborn genetic diseases
- p.Glu273Asp Multiple submitters Inborn genetic diseases
- p.Glu290Gln Multiple submitters Inborn genetic diseases
- p.Glu459fs Multiple submitters amyotrophic lateral sclerosis type 1
- p.Glu472Lys Multiple submitters Inborn genetic diseases
- p.Glu482Lys Multiple submitters Inborn genetic diseases
- p.Glu597Asp Multiple submitters NEFH-related disorder
- p.Glu720_Pro725del Multiple submitters Inborn genetic diseases
- p.Glu792del Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Glu909Lys Multiple submitters Inborn genetic diseases
- p.Glu960Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Gly12Asp Multiple submitters Inborn genetic diseases
- p.Gly165fs Multiple submitters Inborn genetic diseases
- p.Gly21Ser Multiple submitters
- p.Gly228Arg Multiple submitters Inborn genetic diseases
- p.Gly239Asp Multiple submitters Inborn genetic diseases
- p.Gly243Arg Multiple submitters Inborn genetic diseases
- p.Gly32Arg Multiple submitters Inborn genetic diseases
- p.Gly42Ser Multiple submitters
- p.Gly488Arg Multiple submitters
- p.Gly489Asp Multiple submitters Inborn genetic diseases
- p.Gly5Ala Multiple submitters Inborn genetic diseases
- p.Gly83Arg Multiple submitters
- p.His281Asp Multiple submitters
- p.Ile178Met Multiple submitters Inborn genetic diseases
- p.Ile245Ser Multiple submitters Inborn genetic diseases
- p.Ile364Val Multiple submitters Inborn genetic diseases
- p.Ile418Val Multiple submitters Inborn genetic diseases
- p.Leu118Val Multiple submitters Inborn genetic diseases
- p.Leu202Val Multiple submitters
- p.Leu223fs Multiple submitters
- p.Lys219del Multiple submitters
- p.Lys449Arg Multiple submitters amyotrophic lateral sclerosis type 1
- p.Lys665_Ala666insGluGlu Multiple submitters Inborn genetic diseases
- p.Lys780Arg Multiple submitters Inborn genetic diseases
- p.Lys790Glu Multiple submitters Inborn genetic diseases
- p.Lys821Glu Multiple submitters Inborn genetic diseases
- p.Lys840Glu Multiple submitters
- p.Lys856Glu Multiple submitters Inborn genetic diseases
- p.Lys857Glu Multiple submitters Inborn genetic diseases
- p.Lys889Arg Multiple submitters Inborn genetic diseases
- p.Lys902Thr Multiple submitters Inborn genetic diseases
- p.Lys964Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Lys993Glu Multiple submitters Inborn genetic diseases
- p.Met255Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2CC
- p.Phe15fs Multiple submitters
- p.Pro527Leu Multiple submitters NEFH-related disorder
- p.Pro561Leu Multiple submitters NEFH-related disorder
- p.Pro562_Pro595del Multiple submitters Inborn genetic diseases
- p.Pro595Leu Multiple submitters
- p.Pro635Leu Multiple submitters NEFH-related disorder
- p.Pro669Leu Multiple submitters
- p.Pro669Ser Multiple submitters
- p.Pro747Ser Multiple submitters Inborn genetic diseases
- p.Pro769Leu Multiple submitters Inborn genetic diseases
- p.Pro777Leu Multiple submitters Inborn genetic diseases
- p.Pro782Leu Multiple submitters NEFH-related disorder
- p.Pro802Leu Multiple submitters
- p.Pro810Leu Multiple submitters Inborn genetic diseases
- p.Pro870Ser Multiple submitters Inborn genetic diseases
- p.Pro952Leu Multiple submitters
- p.Ser269Trp Multiple submitters Hereditary neuropathy or pain disorder
- p.Ser301Leu Multiple submitters NEFH-related disorder
- p.Ser421Leu Multiple submitters
- p.Ser43Ala Multiple submitters
- p.Ser594Ala Multiple submitters Inborn genetic diseases
- p.Ser63Gly Multiple submitters
- p.Ser662Phe Multiple submitters Inborn genetic diseases
- p.Ser662Tyr Multiple submitters Inborn genetic diseases
- p.Ser710Cys Multiple submitters
- p.Ser738Phe Multiple submitters Inborn genetic diseases
- p.Ser746Phe Multiple submitters Inborn genetic diseases
- p.Ser746Tyr Multiple submitters
- p.Ser96Thr Multiple submitters
- p.Thr259Ala Multiple submitters Inborn genetic diseases
- p.Thr286Ala Multiple submitters Inborn genetic diseases
- p.Thr286Met Multiple submitters Inborn genetic diseases
- p.Thr319Ser Multiple submitters
- p.Thr338Ile Multiple submitters Inborn genetic diseases
- p.Thr642Ala Multiple submitters Inborn genetic diseases
- p.Thr79Met Multiple submitters Inborn genetic diseases
- p.Thr905Pro Multiple submitters NEFH-related disorder
- p.Thr971Ala Multiple submitters Inborn genetic diseases
- p.Trp50Ser Multiple submitters
- p.Tyr146Ter Multiple submitters
- p.Tyr385His Multiple submitters Inborn genetic diseases
- p.Val238Ala Multiple submitters Inborn genetic diseases
- p.Val306Met Multiple submitters Inborn genetic diseases
- p.Val55Leu Multiple submitters Inborn genetic diseases
- p.Val684Leu Multiple submitters
- p.Val726Leu Multiple submitters Inborn genetic diseases
- p.Val740_Pro747del Multiple submitters Inborn genetic diseases
- p.Val890Ala Multiple submitters
- p.Val916Met Multiple submitters Inborn genetic diseases
- p.Val91Leu Multiple submitters Inborn genetic diseases
- c.1083+19_1083+20delinsTT Single submitter
- c.1209-3C>T Single submitter
- c.1209-4G>A Single submitter Inborn genetic diseases
- c.883+15_883+32dup Single submitter
- c.-3G>A Single submitter
- p.604AKSPVKEEAKSPAE[1] Single submitter
- p.Ala109Thr Single submitter
- p.Ala120Thr Single submitter
- p.Ala129Thr Single submitter Inborn genetic diseases
- p.Ala131fs Single submitter
- p.Ala131Val Single submitter
- p.Ala137Glu Single submitter Inborn genetic diseases
- p.Ala137Val Single submitter
- p.Ala13Val Single submitter
- p.Ala156Leu Single submitter
- p.Ala162_Ala163insValLeuArgLeuGlyAla Single submitter
- p.Ala162Val Single submitter Inborn genetic diseases
- p.Ala163_Arg164insLeuArgLeuGlyAlaAla Single submitter
- p.Ala195Asp Single submitter
- p.Ala198Val Single submitter Inborn genetic diseases
- p.Ala199_Ala212del Single submitter
- p.Ala199Thr Single submitter
- p.Ala201Ser Single submitter
- p.Ala203Glu Single submitter
- p.Ala209Thr Single submitter
- p.Ala211Thr Single submitter
- p.Ala220Thr Single submitter
- p.Ala222Glu Single submitter
- p.Ala250Ser Single submitter
- p.Ala250Thr Single submitter
- p.Ala250Val Single submitter
- p.Ala251Pro Single submitter Inborn genetic diseases
- p.Ala251Ser Single submitter Inborn genetic diseases
- p.Ala262Ser Single submitter
- p.Ala270Val Single submitter
- p.Ala358Val Single submitter
- p.Ala394Thr Single submitter
- p.Ala394Val Single submitter
- p.Ala400fs Single submitter
- p.Ala40Val Single submitter
- p.Ala41Val Single submitter
- p.Ala478Thr Single submitter
- p.Ala494Glu Single submitter
- p.Ala509Val Single submitter
- p.Ala510Thr Single submitter
- p.Ala524Thr Single submitter
- p.Ala528Pro Single submitter
- p.Ala528Val Single submitter Inborn genetic diseases
- p.Ala554Pro Single submitter
- p.Ala584Ser Single submitter
- p.Ala592Thr Single submitter
- p.Ala616Pro Single submitter Inborn genetic diseases
- p.Ala626Thr Single submitter
- p.Ala646Pro Single submitter Inborn genetic diseases
- p.Ala652Pro Single submitter
- p.Ala686Glu Single submitter
- p.Ala686Val Single submitter
- p.Ala694Asp Single submitter Inborn genetic diseases
- p.Ala694Val Single submitter
- p.Ala708Ser Single submitter
- p.Ala708Thr Single submitter
- p.Ala70Ser Single submitter
- p.Ala722Gly Single submitter
- p.Ala730Thr Single submitter
- p.Ala766Thr Single submitter
- p.Ala770Ser Single submitter
- p.Ala7Glu Single submitter
- p.Ala809Val Single submitter
- p.Ala864Glu Single submitter Inborn genetic diseases
- p.Ala881Val Single submitter
- p.Ala945Thr Single submitter
- p.Ala950Val Single submitter
- p.Ala962Val Single submitter
- p.Ala9Pro Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Arg107Gly Single submitter
- p.Arg116Trp Single submitter
- p.Arg133fs Single submitter
- p.Arg139fs Single submitter
- p.Arg139Pro Single submitter
- p.Arg148Pro Single submitter
- p.Arg151His Single submitter Inborn genetic diseases
- p.Arg159Cys Single submitter
- p.Arg159His Single submitter
- p.Arg164Leu Single submitter
- p.Arg168Cys Single submitter
- p.Arg190Gln Single submitter
- p.Arg192Gly Single submitter
- p.Arg192Leu Single submitter
- p.Arg200Cys Single submitter
- p.Arg200Ser Single submitter NEFH-related disorder
- p.Arg294Ter Single submitter
- p.Arg296Lys Single submitter
- p.Arg299Ter Single submitter
- p.Arg30Gln Single submitter Inborn genetic diseases
- p.Arg312His Single submitter
- p.Arg322Trp Single submitter
- p.Arg323Pro Single submitter
- p.Arg412Gln Single submitter
- p.Arg95His Single submitter
- p.Arg95Pro Single submitter
- p.Asn307Ser Single submitter
- p.Asn390Asp Single submitter
- p.Asn390Ser Single submitter
- p.Asp113Asn Single submitter Inborn genetic diseases
- p.Asp113fs Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Asp113His Single submitter Inborn genetic diseases
- p.Asp113Ile Single submitter
- p.Asp113Val Single submitter Inborn genetic diseases
- p.Asp177Asn Single submitter
- p.Asp177Tyr Single submitter
- p.Asp186His Single submitter Inborn genetic diseases
- p.Asp187Glu Single submitter
- p.Asp187Tyr Single submitter
- p.Asp298_Ser301del Single submitter
- p.Asp351delinsValLeuTer Single submitter
- p.Asp387Tyr Single submitter
- p.Asp396Tyr Single submitter
- p.Asp396Val Single submitter Inborn genetic diseases
- p.Asp760Ala Single submitter
- p.Asp899Asn Single submitter
- p.Asp934Tyr Single submitter
- p.Cys227Trp Single submitter
- p.Cys265Tyr Single submitter
- p.Cys411Tyr Single submitter Inborn genetic diseases
- p.Cys87Arg Single submitter
- p.Gln100Glu Single submitter
- p.Gln166fs Single submitter
- p.Gln166His Single submitter
- p.Gln171Ter Single submitter
- p.Gln183Ter Single submitter
- p.Gln191fs Single submitter
- p.Gln207_Glu208insAlaArgPheAlaGln Single submitter
- p.Gln235Arg Single submitter
- p.Gln246Pro Single submitter
- p.Gln277Glu Single submitter Inborn genetic diseases
- p.Gln284Glu Single submitter
- p.Gln288fs Single submitter
- p.Gln288Pro Single submitter
- p.Gln315Ter Single submitter
- p.Gln326fs Single submitter
- p.Gln326Ter Single submitter
- p.Gln354Lys Single submitter
- p.Gln365fs Single submitter Charcot-Marie-Tooth disease axonal type 2CC
- p.Gln365Glu Single submitter Inborn genetic diseases
- p.Glu119Lys Single submitter
- p.Glu126Ala Single submitter
- p.Glu126Asp Single submitter
- p.Glu128Lys Single submitter
- p.Glu147Asp Single submitter
- p.Glu147Lys Single submitter
- p.Glu170Lys Single submitter
- p.Glu176Lys Single submitter
- p.Glu193Lys Single submitter
- p.Glu194Lys Single submitter
- p.Glu196Asp Single submitter Inborn genetic diseases