KIF1C — 775 ClinVar variants
All ClinVar germline KIF1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 320 flagged for review →
15 Pathogenic · 3 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 39 Conflicting · 53 Benign · 24 Benign/Likely benign · 279 Likely benign · 340 Uncertain significance
Full KIF1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 320
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 18
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KIF1C p.Ala360Thr
Conflicting
Single submitter
Inborn genetic diseases
-
KIF1C p.Ala371Thr
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Ala379Gly
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Ala400Thr
Conflicting
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg1091His
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Arg167Trp
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Arg349Cys
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Arg710His
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Arg912Trp
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Asp974Asn
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Gly767Arg
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Lys449Arg
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Pro416Leu
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Pro437Leu
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Pro700Leu
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Pro892Ser
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Ser5Leu
Conflicting
Single submitter
Inborn genetic diseases
-
KIF1C p.Thr431Met
Conflicting
Single submitter
spastic ataxia 2
Predictors lean, ClinVar uncertain 225
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 225
-
KIF1C p.Ala1043Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Ala190Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Ala4Ser
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Ala860Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg1019Trp
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg1030His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg1041Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg1077Cys
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg163Gln
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg18His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg203Gln
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg318Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg540Gln
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg723Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg740Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg780Gln
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg862Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg864His
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg907Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg926Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg963Cys
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg988Gln
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Asn598Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Gln42His
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Glu1098Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Glu388Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Glu810Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Gly791Ser
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Gly793Arg
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Gly997Arg
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.His1027Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Leu138Val
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Lys183Thr
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Lys533Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Met378Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Pro1000Leu
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Pro1020Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Pro1021Leu
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Pro1073Ser
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Pro892Leu
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Pro913Ser
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Pro914Ser
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Thr234Met
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Thr62Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Val119Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Val594Ile
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Ala1017Ser
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ala1017Val
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ala1043Thr
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ala193Thr
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ala255Asp
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ala284Thr
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Ala371Gly Uncertain significance Single submitter
-
KIF1C p.Ala721Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ala815Thr
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ala825Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ala85Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ala903Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ala967Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg1018Cys
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg1018His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg1019Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg1024Pro
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg1039Gln
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg1072Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg13Trp
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Arg153Trp Uncertain significance Single submitter
-
KIF1C p.Arg155Gly
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg261Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF1C p.Arg264Cys Uncertain significance Single submitter
-
KIF1C p.Arg264His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg264Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg344Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF1C p.Arg372Trp Uncertain significance Single submitter
-
KIF1C p.Arg484Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg547Gln
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Arg655Gln Uncertain significance Single submitter
-
KIF1C p.Arg696Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg719His
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF1C p.Arg75Gln Uncertain significance Single submitter
- KIF1C p.Arg765His Uncertain significance Single submitter
-
KIF1C p.Arg768Gln
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg801Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg826Gly
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg834Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg856Gln
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Arg862Gln Uncertain significance Single submitter
-
KIF1C p.Arg867Cys
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg867His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg958Trp
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg963His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asn200Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asn316Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asn316Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF1C p.Asn359Ser Uncertain significance Single submitter
-
KIF1C p.Asn39Ser
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Asn430Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asn571Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asn984Thr
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Asp1095Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asp194Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asp237Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asp248Gly
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Asp790Asn
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Asp838Asn Uncertain significance Single submitter
-
KIF1C p.Asp855Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
KIF1C p.Cys123Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Cys350Tyr
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gln1047Arg
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gln1047Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF1C p.Gln1063Lys Uncertain significance Single submitter
-
KIF1C p.Gln227His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gln845Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu1008Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu1098Lys
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Glu19Lys Uncertain significance Single submitter
-
KIF1C p.Glu424Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu471Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu577Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu809Gln
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Glu823Val
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Glu884Lys
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Glu887Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu901Lys
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Glu989Asp Uncertain significance Single submitter
-
KIF1C p.Gly1038Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly1042Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly1044Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly251Val
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gly268Ala
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gly389Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly421Arg
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Gly536Ala Uncertain significance Single submitter
-
KIF1C p.Gly565Glu
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gly584Arg
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gly616Glu
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gly736Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly767Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly812Arg
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Gly954Asp Uncertain significance Single submitter
-
KIF1C p.Gly960Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
KIF1C p.Gly960Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.His1012Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.His1028Tyr
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.His230Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.His878Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
KIF1C p.His973Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ile354Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ile37Val
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ile539Thr
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 77
The independent predictors disagree with each other — read with care.
-
KIF1C p.Arg1089Trp
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg129His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg318His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg463Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg540Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg669Gln
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Arg719Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg75Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Arg948Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Asp838Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Gln380His
Uncertain significance
Multiple submitters
spastic ataxia 2
-
KIF1C p.Glu112Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Glu758Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Glu829Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Ser139Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Thr51Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Thr841Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF1C p.Ala360Asp
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Ala760Gly Uncertain significance Single submitter
-
KIF1C p.Ala773Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg1089Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg129Cys
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg163Trp
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg167Gln
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Arg228Cys
Conflicting
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg228His
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Arg372Gln
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg547Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg683His
Conflicting
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg710Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg724Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg765Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg768Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Arg856Trp
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg867Pro
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Arg988Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asn331Ser
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Asn984Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
KIF1C p.Asp256Asn
Conflicting
Single submitter
Inborn genetic diseases
-
KIF1C p.Asp662Asn
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Asp662His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Asp805Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gln227Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gln289Pro
Conflicting
Single submitter
spastic ataxia 2
-
KIF1C p.Gln750Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu485Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu781Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Glu945Lys
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Gly1036Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly114Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Gly554Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
KIF1C p.Gly842Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.His987Gln
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ile118Leu
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ile354Met
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Leu664Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF1C p.Lys645Asn Uncertain significance Single submitter
-
KIF1C p.Lys656Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Lys7Arg
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Met196Ile
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Met589Ile
Uncertain significance
Single submitter
spastic ataxia 2
- KIF1C p.Phe969Ser Uncertain significance Single submitter
-
KIF1C p.Pro1085Ser
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Pro552Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ser1033Phe
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ser139Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ser21Arg
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ser238Leu
Uncertain significance
Single submitter
spastic ataxia 2
-
KIF1C p.Ser295Leu
Conflicting
Single submitter
Inborn genetic diseases
-
KIF1C p.Ser548Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ser61Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ser674Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Ser983Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
KIF1C p.Thr457Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Thr489Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Thr806Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF1C p.Tyr300Phe
Likely benign
Single submitter
spastic ataxia 2
All KIF1C variants
Pathogenic 15
- p.Ala828fs Multiple submitters spastic ataxia 2
- p.Arg731Ter Multiple submitters spastic ataxia 2
- c.1019+1dup Single submitter spastic ataxia 2
- c.945del Single submitter
- p.Arg110Ter Single submitter spastic ataxia 2
- p.Asn351fs Single submitter intellectual disability
- p.Asp256fs Single submitter spastic ataxia 2
- p.Gln347Ter Single submitter spastic ataxia 2
- p.Glu466fs Single submitter spastic ataxia 2
- p.Glu666Ter Single submitter Abnormal central motor function
- p.Glu80fs Single submitter spastic ataxia 2
- p.Ile149Phe Single submitter spastic ataxia 2
- p.Lys201fs Single submitter spastic ataxia 2
- p.Lys243fs Single submitter spastic ataxia 2
- p.Ser61Ter Single submitter spastic ataxia 2
Pathogenic/Likely pathogenic 3
- p.Arg669Ter Multiple submitters spastic ataxia 2
- p.Gly102Ala Multiple submitters
- p.Pro176Leu Multiple submitters spastic ataxia 2
Likely pathogenic 22
- p.Arg216Cys Multiple submitters spastic ataxia 2
- c.1166-2A>T Single submitter spastic ataxia 2
- c.1335+2_1335+5del Single submitter
- c.1491+2T>C Single submitter spastic ataxia 2
- c.865-1G>A Single submitter spastic ataxia 2
- c.940+2T>G Single submitter
- c.941-2A>G Single submitter spastic ataxia 2
- p.Ala255fs Single submitter spastic ataxia 2
- p.Arg169Trp Single submitter spastic ataxia 2
- p.Arg216His Single submitter spastic ataxia 2
- p.Cys350fs Single submitter
- p.Gln1063fs Single submitter spastic ataxia 2
- p.Gln22Ter Single submitter spastic ataxia 2
- p.Leu927fs Single submitter
- p.Leu962fs Single submitter spastic ataxia 2
- p.Met1Ile Single submitter
- p.Pro14Leu Single submitter spastic ataxia 2
- p.Ser61= Single submitter hereditary spastic paraplegia
- p.Trp741Ter Single submitter
- c.1020-2A>G No assertion criteria spastic ataxia 2
- c.864+1G>A No assertion criteria spastic ataxia
- p.Ala260fs No assertion criteria KIF1C-related disorder
Conflicting classifications of pathogenicity 39
- c.1165+3C>T Single submitter spastic ataxia 2
- c.1165+4G>A Single submitter spastic ataxia 2
- c.1666+5T>C Single submitter spastic ataxia 2
- c.1750+5A>C Single submitter
- p.Ala360Thr Single submitter Inborn genetic diseases ⚠
- p.Ala371Thr Single submitter spastic ataxia 2 ⚠
- p.Ala379Gly Single submitter spastic ataxia 2 ⚠
- p.Ala400Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1091His Single submitter spastic ataxia 2 ⚠
- p.Arg167Gln Single submitter spastic ataxia 2 ⚠
- p.Arg167Trp Single submitter spastic ataxia 2 ⚠
- p.Arg228Cys Single submitter Inborn genetic diseases ⚠
- p.Arg228His Single submitter spastic ataxia 2 ⚠
- p.Arg349Cys Single submitter spastic ataxia 2 ⚠
- p.Arg683His Single submitter Inborn genetic diseases ⚠
- p.Arg710His Single submitter spastic ataxia 2 ⚠
- p.Arg912Trp Single submitter spastic ataxia 2 ⚠
- p.Asn455= Single submitter spastic ataxia 2
- p.Asp256Asn Single submitter Inborn genetic diseases ⚠
- p.Asp974Asn Single submitter spastic ataxia 2 ⚠
- p.Gln1066= Single submitter hereditary spastic paraplegia
- p.Gln289Pro Single submitter spastic ataxia 2 ⚠
- p.Gln653= Single submitter spastic ataxia 2
- p.Gly521= Single submitter spastic ataxia 2
- p.Gly767Arg Single submitter spastic ataxia 2 ⚠
- p.Lys449Arg Single submitter spastic ataxia 2 ⚠
- p.Pro113= Single submitter hereditary spastic paraplegia
- p.Pro416Leu Single submitter spastic ataxia 2 ⚠
- p.Pro437Leu Single submitter spastic ataxia 2 ⚠
- p.Pro700Leu Single submitter spastic ataxia 2 ⚠
- p.Pro892Ser Single submitter spastic ataxia 2 ⚠
- p.Ser238= Single submitter spastic ataxia 2
- p.Ser295Leu Single submitter Inborn genetic diseases ⚠
- p.Ser5Leu Single submitter Inborn genetic diseases ⚠
- p.Thr234= Single submitter spastic ataxia 2
- p.Thr431Met Single submitter spastic ataxia 2 ⚠
- p.Tyr1078= Single submitter spastic ataxia 2
- p.Tyr341= Single submitter spastic ataxia 2
- p.Val6= Single submitter hereditary spastic paraplegia
Benign 53
- c.1019+18A>G Multiple submitters spastic ataxia 2
- c.1019+49A>G Multiple submitters
- c.1165+83G>A Multiple submitters
- c.1166-8C>T Multiple submitters spastic ataxia 2
- c.1751-30G>A Multiple submitters
- c.183+21A>G Multiple submitters
- c.184-141T>A Multiple submitters
- c.1937+11G>T Multiple submitters spastic ataxia 2
- c.1937+32C>T Multiple submitters
- c.1938-4C>G Multiple submitters spastic ataxia 2
- c.2628+122C>T Multiple submitters
- c.364-123C>A Multiple submitters
- c.430-132C>G Multiple submitters
- c.430-54C>T Multiple submitters
- c.609-35A>G Multiple submitters
- c.720+19_720+20del Multiple submitters spastic ataxia 2
- c.799-43G>A Multiple submitters
- c.-149+13G>C Multiple submitters
- c.-27-120T>C Multiple submitters
- p.His766= Multiple submitters hereditary spastic paraplegia
- p.Ile77= Multiple submitters spastic ataxia 2
- p.Pro552= Multiple submitters hereditary spastic paraplegia
- p.Pro909Gln Multiple submitters spastic ataxia 2
- p.Pro916= Multiple submitters spastic ataxia 2
- p.Ser996Asn Multiple submitters hereditary spastic paraplegia
- c.1336-10A>T Single submitter spastic ataxia 2
- c.1336-18C>T Single submitter spastic ataxia 2
- c.1571+90_1571+99del Single submitter
- c.1572-223_1572-222del Single submitter
- c.1666+13G>C Single submitter spastic ataxia 2
- c.1666+202A>G Single submitter
- c.183+20dup Single submitter spastic ataxia 2
- c.2010+124A>G Single submitter
- c.2010+160A>G Single submitter
- c.2011-191G>A Single submitter
- c.2629-156C>T Single submitter
- c.2629-165G>A Single submitter
- c.363+180del Single submitter
- c.363+203del Single submitter
- c.364-227A>G Single submitter
- c.720+212del Single submitter
- c.720+212dup Single submitter
- c.721-197G>A Single submitter
- c.-148-187G>A Single submitter
- p.Ala17Thr Single submitter spastic ataxia 2
- p.Ala775= Single submitter spastic ataxia 2
- p.Asp256= Single submitter spastic ataxia 2
- p.Glu393= Single submitter spastic ataxia 2
- p.Gly399= Single submitter spastic ataxia 2
- p.Ile330= Single submitter spastic ataxia 2
- p.Ser5= Single submitter spastic ataxia 2
- p.Thr535= Single submitter spastic ataxia 2
- p.Tyr569= Single submitter spastic ataxia 2
Benign/Likely benign 24
- c.1165+12A>G Multiple submitters spastic ataxia 2
- c.1666+12G>C Multiple submitters spastic ataxia 2
- c.1751-7T>A Multiple submitters spastic ataxia 2
- c.183+17G>C Multiple submitters spastic ataxia 2
- c.184-8T>C Multiple submitters spastic ataxia 2
- c.1937+14A>C Multiple submitters spastic ataxia 2
- c.720+18_720+20del Multiple submitters spastic ataxia 2
- c.720+18C>A Multiple submitters spastic ataxia 2
- c.720+19C>G Multiple submitters spastic ataxia 2
- c.720+20del Multiple submitters spastic ataxia 2
- c.720+20dup Multiple submitters spastic ataxia 2
- c.940+17C>A Multiple submitters spastic ataxia 2
- c.941-17A>T Multiple submitters spastic ataxia 2
- p.Ala1017Thr Multiple submitters spastic ataxia 2
- p.Asn882= Multiple submitters spastic ataxia 2
- p.Asn90= Multiple submitters spastic ataxia 2
- p.Gln434His Multiple submitters spastic ataxia 2
- p.Leu605= Multiple submitters spastic ataxia 2
- p.Pro425= Multiple submitters spastic ataxia 2
- p.Ser295= Multiple submitters hereditary spastic paraplegia
- p.Thr431= Multiple submitters spastic ataxia 2
- p.Thr51= Multiple submitters spastic ataxia 2
- p.Thr702Ile Multiple submitters spastic ataxia 2
- p.Thr99= Multiple submitters spastic ataxia 2
Likely benign 279
- c.1020-14C>G Multiple submitters spastic ataxia 2
- c.1166-74C>T Multiple submitters
- c.1491+35C>G Multiple submitters
- c.1571+6G>A Multiple submitters spastic ataxia 2
- c.1572-3C>T Multiple submitters spastic ataxia 2
- c.1667-99A>G Multiple submitters
- c.1750+6_1750+8del Multiple submitters spastic ataxia 2
- c.1751-12_1751-10del Multiple submitters spastic ataxia 2
- c.2010+22G>A Multiple submitters
- c.2628+104T>C Multiple submitters
- c.364-8C>T Multiple submitters spastic ataxia 2
- c.720+17C>G Multiple submitters spastic ataxia 2
- c.720+20C>A Multiple submitters spastic ataxia 2
- c.720+20C>G Multiple submitters spastic ataxia 2
- c.799-19A>G Multiple submitters spastic ataxia 2
- c.864+17G>A Multiple submitters spastic ataxia 2
- c.*219T>G Multiple submitters
- p.Ala751= Multiple submitters spastic ataxia 2
- p.Ala828= Multiple submitters spastic ataxia 2
- p.Arg1024Gln Multiple submitters spastic ataxia 2
- p.Arg1041= Multiple submitters spastic ataxia 2
- p.Asp790= Multiple submitters spastic ataxia 2
- p.Asp794= Multiple submitters spastic ataxia 2
- p.Gly827= Multiple submitters spastic ataxia 2
- p.Gly961= Multiple submitters spastic ataxia 2
- p.His84= Multiple submitters spastic ataxia 2
- p.His973= Multiple submitters spastic ataxia 2
- p.Ile149= Multiple submitters spastic ataxia 2
- p.Ile728= Multiple submitters spastic ataxia 2
- p.Ile872= Multiple submitters
- p.Leu122= Multiple submitters spastic ataxia 2
- p.Leu927= Multiple submitters spastic ataxia 2
- p.Lys346= Multiple submitters spastic ataxia 2
- p.Pro1021= Multiple submitters spastic ataxia 2
- p.Pro617= Multiple submitters spastic ataxia 2
- p.Pro792= Multiple submitters
- p.Pro892= Multiple submitters spastic ataxia 2
- p.Thr703= Multiple submitters spastic ataxia 2
- p.Tyr189= Multiple submitters spastic ataxia 2
- p.Tyr332= Multiple submitters spastic ataxia 2
- p.Val178= Multiple submitters spastic ataxia 2
- c.1020-16C>T Single submitter spastic ataxia 2
- c.1020-17G>C Single submitter spastic ataxia 2
- c.1020-4C>T Single submitter spastic ataxia 2
- c.1020-5C>T Single submitter spastic ataxia 2
- c.106+14C>T Single submitter spastic ataxia 2
- c.106+15G>A Single submitter spastic ataxia 2
- c.106+7G>C Single submitter
- c.107-16C>T Single submitter spastic ataxia 2
- c.107-5C>T Single submitter spastic ataxia 2
- c.107-78G>A Single submitter
- c.107-7C>T Single submitter spastic ataxia 2
- c.1165+17G>C Single submitter spastic ataxia 2
- c.1166-174G>A Single submitter
- c.1166-19T>C Single submitter spastic ataxia 2
- c.1335+11G>A Single submitter spastic ataxia 2
- c.1336-26G>A Single submitter
- c.1336-8G>A Single submitter spastic ataxia 2
- c.1415+12G>A Single submitter spastic ataxia 2
- c.1415+15_1415+18del Single submitter spastic ataxia 2
- c.1415+18T>G Single submitter spastic ataxia 2
- c.1416-11T>C Single submitter spastic ataxia 2
- c.1491+14C>T Single submitter spastic ataxia 2
- c.1491+18C>T Single submitter spastic ataxia 2
- c.1491+19G>A Single submitter spastic ataxia 2
- c.1492-12C>G Single submitter spastic ataxia 2
- c.1492-14C>T Single submitter spastic ataxia 2
- c.1492-19C>T Single submitter spastic ataxia 2
- c.1492-6G>A Single submitter spastic ataxia 2
- c.1492-7C>T Single submitter spastic ataxia 2
- c.1571+16C>T Single submitter spastic ataxia 2
- c.1571+17G>A Single submitter spastic ataxia 2
- c.1571+20C>A Single submitter spastic ataxia 2
- c.1571+8G>T Single submitter spastic ataxia 2
- c.1571+9T>C Single submitter spastic ataxia 2
- c.1572-5C>T Single submitter spastic ataxia 2
- c.1572-9C>G Single submitter spastic ataxia 2
- c.1666+13G>T Single submitter
- c.1666+15G>A Single submitter spastic ataxia 2
- c.1666+18GA[2] Single submitter spastic ataxia 2
- c.1666+9T>C Single submitter spastic ataxia 2
- c.1667-12C>T Single submitter spastic ataxia 2
- c.1667-16C>A Single submitter spastic ataxia 2
- c.1667-8C>G Single submitter spastic ataxia 2
- c.1751-12T>C Single submitter spastic ataxia 2
- c.184-13C>A Single submitter spastic ataxia 2
- c.184-13C>T Single submitter spastic ataxia 2
- c.184-17C>T Single submitter spastic ataxia 2
- c.184-20C>G Single submitter spastic ataxia 2
- c.1937+20G>A Single submitter spastic ataxia 2
- c.1938-13del Single submitter spastic ataxia 2
- c.1938-14C>T Single submitter spastic ataxia 2
- c.2010+8G>A Single submitter spastic ataxia 2
- c.2011-5C>T Single submitter spastic ataxia 2
- c.2011-7G>A Single submitter spastic ataxia 2
- c.2011-7G>T Single submitter
- c.2628+15C>T Single submitter spastic ataxia 2
- c.2628+17G>T Single submitter spastic ataxia 2
- c.363+18T>C Single submitter spastic ataxia 2
- c.364-17C>T Single submitter spastic ataxia 2
- c.364-18C>T Single submitter spastic ataxia 2
- c.364-9C>T Single submitter spastic ataxia 2
- c.429+10G>T Single submitter
- c.429+15T>C Single submitter spastic ataxia 2
- c.429+161C>T Single submitter
- c.429+9G>A Single submitter spastic ataxia 2
- c.430-10T>C Single submitter
- c.430-6A>G Single submitter spastic ataxia 2
- c.430-6A>T Single submitter spastic ataxia 2
- c.608+9G>C Single submitter spastic ataxia 2
- c.609-19C>G Single submitter spastic ataxia 2
- c.609-9T>C Single submitter spastic ataxia 2
- c.720+10C>G Single submitter spastic ataxia 2
- c.720+11C>G Single submitter spastic ataxia 2
- c.720+11C>T Single submitter spastic ataxia 2
- c.720+12C>G Single submitter spastic ataxia 2
- c.720+13C>G Single submitter spastic ataxia 2
- c.720+14C>A Single submitter spastic ataxia 2
- c.720+14C>G Single submitter spastic ataxia 2
- c.720+15C>T Single submitter spastic ataxia 2
- c.720+16C>A Single submitter spastic ataxia 2
- c.720+16C>G Single submitter spastic ataxia 2
- c.720+16C>T Single submitter spastic ataxia 2
- c.720+17_720+19delinsG Single submitter
- c.720+18C>G Single submitter spastic ataxia 2
- c.720+20C>T Single submitter spastic ataxia 2
- c.720+21_720+23del Single submitter
- c.720+9_720+10insGGG Single submitter
- c.720+9G>A Single submitter spastic ataxia 2
- c.721-14dup Single submitter spastic ataxia 2
- c.721-18T>C Single submitter spastic ataxia 2
- c.721-19C>G Single submitter spastic ataxia 2
- c.721-4C>T Single submitter spastic ataxia 2
- c.721-5C>T Single submitter
- c.721-81A>G Single submitter
- c.798+13C>T Single submitter spastic ataxia 2
- c.799-19A>T Single submitter spastic ataxia 2
- c.799-59G>A Single submitter
- c.865-13T>G Single submitter spastic ataxia 2
- c.865-4C>T Single submitter spastic ataxia 2
- c.865-7C>T Single submitter
- c.940+7G>A Single submitter spastic ataxia 2
- c.941-8A>G Single submitter spastic ataxia 2
- c.-141C>T Single submitter
- c.-149+16G>A Single submitter
- c.-169C>G Single submitter
- c.-28+8G>A Single submitter
- p.Ala1043= Single submitter spastic ataxia 2
- p.Ala17= Single submitter spastic ataxia 2
- p.Ala219= Single submitter spastic ataxia 2
- p.Ala255= Single submitter spastic ataxia 2
- p.Ala284= Single submitter spastic ataxia 2
- p.Ala384= Single submitter spastic ataxia 2
- p.Ala400= Single submitter spastic ataxia 2
- p.Ala452= Single submitter spastic ataxia 2
- p.Ala776= Single submitter
- p.Ala798= Single submitter
- p.Ala85= Single submitter spastic ataxia 2
- p.Ala898= Single submitter spastic ataxia 2
- p.Ala933= Single submitter spastic ataxia 2
- p.Ala999= Single submitter
- p.Arg1030= Single submitter spastic ataxia 2
- p.Arg1041Gln Single submitter spastic ataxia 2
- p.Arg129= Single submitter spastic ataxia 2
- p.Arg228= Single submitter
- p.Arg254= Single submitter spastic ataxia 2
- p.Arg547Leu Single submitter spastic ataxia 2
- p.Arg607Trp Single submitter spastic ataxia 2
- p.Arg690= Single submitter spastic ataxia 2
- p.Arg720= Single submitter
- p.Arg740= Single submitter spastic ataxia 2
- p.Arg834= Single submitter spastic ataxia 2
- p.Arg867= Single submitter spastic ataxia 2
- p.Arg978= Single submitter spastic ataxia 2
- p.Asn133= Single submitter spastic ataxia 2
- p.Asn16= Single submitter spastic ataxia 2
- p.Asn351Asp Single submitter spastic ataxia 2
- p.Asn355= Single submitter spastic ataxia 2
- p.Asp156= Single submitter spastic ataxia 2
- p.Asp343= Single submitter spastic ataxia 2
- p.Asp738= Single submitter spastic ataxia 2
- p.Asp906= Single submitter
- p.Cys229= Single submitter spastic ataxia 2
- p.Cys26Arg Single submitter spastic ataxia 2
- p.Gln367= Single submitter spastic ataxia 2
- p.Gln735= Single submitter spastic ataxia 2
- p.Gln750= Single submitter spastic ataxia 2
- p.Gln845= Single submitter spastic ataxia 2
- p.Gln950= Single submitter spastic ataxia 2
- p.Glu1008= Single submitter spastic ataxia 2
- p.Glu152= Single submitter spastic ataxia 2
- p.Glu368= Single submitter spastic ataxia 2
- p.Glu541= Single submitter spastic ataxia 2
- p.Glu577= Single submitter
- p.Glu687= Single submitter spastic ataxia 2
- p.Glu881= Single submitter spastic ataxia 2
- p.Gly1042= Single submitter spastic ataxia 2
- p.Gly436= Single submitter spastic ataxia 2
- p.Gly767= Single submitter spastic ataxia 2
- p.Gly813= Single submitter spastic ataxia 2
- p.Gly813Ser Single submitter Inborn genetic diseases
- p.Gly824Arg Single submitter spastic ataxia 2
- p.Gly959= Single submitter
- p.Gly960= Single submitter spastic ataxia 2
- p.His1028= Single submitter spastic ataxia 2
- p.His1052= Single submitter
- p.His59= Single submitter spastic ataxia 2
- p.His593= Single submitter spastic ataxia 2
- p.His836= Single submitter spastic ataxia 2
- p.Ile322= Single submitter spastic ataxia 2
- p.Ile38= Single submitter spastic ataxia 2
- p.Ile837= Single submitter spastic ataxia 2
- p.Leu1003= Single submitter
- p.Leu157= Single submitter spastic ataxia 2
- p.Leu184= Single submitter spastic ataxia 2
- p.Leu377= Single submitter spastic ataxia 2
- p.Leu444= Single submitter
- p.Leu476= Single submitter spastic ataxia 2
- p.Leu515= Single submitter spastic ataxia 2
- p.Leu545= Single submitter
- p.Leu581= Single submitter spastic ataxia 2
- p.Leu631= Single submitter
- p.Leu691= Single submitter spastic ataxia 2
- p.Leu734= Single submitter spastic ataxia 2
- p.Leu774= Single submitter spastic ataxia 2
- p.Leu849= Single submitter spastic ataxia 2
- p.Leu949= Single submitter spastic ataxia 2
- p.Lys183= Single submitter spastic ataxia 2
- p.Lys280= Single submitter spastic ataxia 2
- p.Lys496= Single submitter spastic ataxia 2
- p.Lys573= Single submitter
- p.Phe15= Single submitter
- p.Phe764= Single submitter
- p.Pro1002= Single submitter spastic ataxia 2
- p.Pro1069= Single submitter spastic ataxia 2
- p.Pro1073= Single submitter spastic ataxia 2
- p.Pro1079= Single submitter spastic ataxia 2
- p.Pro1080= Single submitter
- p.Pro1084= Single submitter spastic ataxia 2
- p.Pro413= Single submitter spastic ataxia 2
- p.Pro425Leu Single submitter spastic ataxia 2
- p.Pro600= Single submitter spastic ataxia 2
- p.Pro612= Single submitter spastic ataxia 2
- p.Pro614= Single submitter
- p.Pro700= Single submitter spastic ataxia 2
- p.Pro729= Single submitter spastic ataxia 2
- p.Pro909= Single submitter spastic ataxia 2
- p.Pro971= Single submitter spastic ataxia 2
- p.Ser1040= Single submitter spastic ataxia 2
- p.Ser162= Single submitter spastic ataxia 2
- p.Ser188= Single submitter spastic ataxia 2
- p.Ser217= Single submitter spastic ataxia 2
- p.Ser258= Single submitter
- p.Ser274= Single submitter spastic ataxia 2
- p.Ser283= Single submitter spastic ataxia 2
- p.Ser428= Single submitter spastic ataxia 2
- p.Ser915= Single submitter spastic ataxia 2
- p.Ser996= Single submitter spastic ataxia 2
- p.Thr106= Single submitter spastic ataxia 2
- p.Thr187= Single submitter spastic ataxia 2
- p.Thr335= Single submitter spastic ataxia 2
- p.Thr392= Single submitter spastic ataxia 2
- p.Thr568= Single submitter
- p.Thr60= Single submitter spastic ataxia 2
- p.Thr743= Single submitter spastic ataxia 2
- p.Thr841= Single submitter spastic ataxia 2
- p.Tyr150= Single submitter spastic ataxia 2
- p.Tyr177= Single submitter spastic ataxia 2
- p.Tyr300Phe Single submitter spastic ataxia 2 ⚠
- p.Tyr54= Single submitter spastic ataxia 2
- p.Tyr654= Single submitter spastic ataxia 2
- p.Tyr757= Single submitter spastic ataxia 2
- p.Val1009= Single submitter spastic ataxia 2
- p.Val281= Single submitter spastic ataxia 2
- p.Val304= Single submitter spastic ataxia 2
- p.Val483= Single submitter spastic ataxia 2
- p.Val522Ile Single submitter Inborn genetic diseases
- p.Val622= Single submitter spastic ataxia 2
- p.Val73= Single submitter spastic ataxia 2
Uncertain significance 340
Showing the top 300 by review status; the full set is in the sitemap.
- c.1415+8G>T Multiple submitters spastic ataxia 2
- c.1937+5G>A Multiple submitters spastic ataxia 2
- c.363+5G>A Multiple submitters spastic ataxia 2
- c.*61G>A Multiple submitters hereditary spastic paraplegia
- p.Ala1043Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1101fs Multiple submitters spastic ataxia 2
- p.Ala190Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala4Ser Multiple submitters spastic ataxia 2 ⚠
- p.Ala860Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1019Trp Multiple submitters spastic ataxia 2 ⚠
- p.Arg1024Ter Multiple submitters spastic ataxia 2
- p.Arg1030Cys Multiple submitters Inborn genetic diseases
- p.Arg1030His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1041Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1077Cys Multiple submitters spastic ataxia 2 ⚠
- p.Arg1089Trp Multiple submitters spastic ataxia 2 ⚠
- p.Arg129His Multiple submitters Inborn genetic diseases ⚠
- p.Arg163Gln Multiple submitters spastic ataxia 2 ⚠
- p.Arg18His Multiple submitters Inborn genetic diseases ⚠
- p.Arg203Gln Multiple submitters spastic ataxia 2 ⚠
- p.Arg318Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg318His Multiple submitters Inborn genetic diseases ⚠
- p.Arg463Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg540Gln Multiple submitters spastic ataxia 2 ⚠
- p.Arg540Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg655Trp Multiple submitters Inborn genetic diseases
- p.Arg669Gln Multiple submitters spastic ataxia 2 ⚠
- p.Arg719Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg723Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg740Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg75Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg780Gln Multiple submitters spastic ataxia 2 ⚠
- p.Arg862Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg864His Multiple submitters spastic ataxia 2 ⚠
- p.Arg907Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg926Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg948Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg963Cys Multiple submitters spastic ataxia 2 ⚠
- p.Arg988Gln Multiple submitters spastic ataxia 2 ⚠
- p.Asn598Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp838Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln380His Multiple submitters spastic ataxia 2 ⚠
- p.Gln42His Multiple submitters spastic ataxia 2 ⚠
- p.Glu1098Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu112Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu388Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu758Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu810Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu829Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly791Ser Multiple submitters spastic ataxia 2 ⚠
- p.Gly793Arg Multiple submitters spastic ataxia 2 ⚠
- p.Gly997Arg Multiple submitters spastic ataxia 2 ⚠
- p.His1027Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile451Met Multiple submitters Inborn genetic diseases
- p.Leu138Val Multiple submitters spastic ataxia 2 ⚠
- p.Lys183Thr Multiple submitters spastic ataxia 2 ⚠
- p.Lys533Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met378Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro1000Leu Multiple submitters spastic ataxia 2 ⚠
- p.Pro1020Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro1021Leu Multiple submitters spastic ataxia 2 ⚠
- p.Pro1073Ser Multiple submitters spastic ataxia 2 ⚠
- p.Pro892Leu Multiple submitters spastic ataxia 2 ⚠
- p.Pro913Ser Multiple submitters spastic ataxia 2 ⚠
- p.Pro914Ser Multiple submitters spastic ataxia 2 ⚠
- p.Ser139Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr234Met Multiple submitters spastic ataxia 2 ⚠
- p.Thr51Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr62Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr841Met Multiple submitters Inborn genetic diseases ⚠
- p.Val119Met Multiple submitters Inborn genetic diseases ⚠
- p.Val594Ile Multiple submitters spastic ataxia 2 ⚠
- c.1019+5G>A Single submitter spastic ataxia 2
- c.1165+16A>T Single submitter spastic ataxia 2
- c.1166-5C>T Single submitter
- c.1336-3C>T Single submitter spastic ataxia 2
- c.1571+3A>G Single submitter hereditary spastic paraplegia
- c.1571+5C>T Single submitter spastic ataxia 2
- c.1937+4C>T Single submitter spastic ataxia 2
- c.1938-5C>G Single submitter hereditary spastic paraplegia
- c.2010+4A>C Single submitter spastic ataxia 2
- c.2010+4A>T Single submitter
- c.363+4C>T Single submitter spastic ataxia 2
- c.429+8C>T Single submitter hereditary spastic paraplegia
- c.608+2_608+3dup Single submitter spastic ataxia 2
- c.608+6G>A Single submitter spastic ataxia 2
- c.798+3G>T Single submitter spastic ataxia 2
- p.949LQG[1] Single submitter spastic ataxia 2
- p.Ala1017Ser Single submitter spastic ataxia 2 ⚠
- p.Ala1017Val Single submitter spastic ataxia 2 ⚠
- p.Ala1043Thr Single submitter spastic ataxia 2 ⚠
- p.Ala1093Thr Single submitter spastic ataxia 2
- p.Ala193Thr Single submitter spastic ataxia 2 ⚠
- p.Ala255Asp Single submitter spastic ataxia 2 ⚠
- p.Ala284Thr Single submitter spastic ataxia 2 ⚠
- p.Ala360Asp Single submitter spastic ataxia 2 ⚠
- p.Ala371Gly Single submitter ⚠
- p.Ala477Thr Single submitter Inborn genetic diseases
- p.Ala721Thr Single submitter Inborn genetic diseases ⚠
- p.Ala760Gly Single submitter ⚠
- p.Ala773Asn Single submitter
- p.Ala773Asp Single submitter Inborn genetic diseases ⚠
- p.Ala815Thr Single submitter spastic ataxia 2 ⚠
- p.Ala825Thr Single submitter Inborn genetic diseases ⚠
- p.Ala85Thr Single submitter Inborn genetic diseases ⚠
- p.Ala903Ser Single submitter Inborn genetic diseases ⚠
- p.Ala967Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1018Cys Single submitter spastic ataxia 2 ⚠
- p.Arg1018His Single submitter Inborn genetic diseases ⚠
- p.Arg1019Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1024Pro Single submitter spastic ataxia 2 ⚠
- p.Arg1039Gln Single submitter spastic ataxia 2 ⚠
- p.Arg1072Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1086Ter Single submitter spastic ataxia 2
- p.Arg1089Gln Single submitter Inborn genetic diseases ⚠
- p.Arg129Cys Single submitter spastic ataxia 2 ⚠
- p.Arg13Trp Single submitter spastic ataxia 2 ⚠
- p.Arg153Trp Single submitter ⚠
- p.Arg155Gly Single submitter spastic ataxia 2 ⚠
- p.Arg163Trp Single submitter spastic ataxia 2 ⚠
- p.Arg261Gln Single submitter Inborn genetic diseases ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg264His Single submitter Inborn genetic diseases ⚠
- p.Arg264Ser Single submitter Inborn genetic diseases ⚠
- p.Arg340= Single submitter spastic ataxia 2
- p.Arg344Cys Single submitter Inborn genetic diseases ⚠
- p.Arg361Trp Single submitter Inborn genetic diseases
- p.Arg372Gln Single submitter spastic ataxia 2 ⚠
- p.Arg372Trp Single submitter ⚠
- p.Arg484Trp Single submitter Inborn genetic diseases ⚠
- p.Arg547Gln Single submitter spastic ataxia 2 ⚠
- p.Arg547Trp Single submitter Inborn genetic diseases ⚠
- p.Arg646= Single submitter spastic ataxia 2
- p.Arg646Lys Single submitter
- p.Arg655Gln Single submitter ⚠
- p.Arg696Trp Single submitter Inborn genetic diseases ⚠
- p.Arg710Cys Single submitter Inborn genetic diseases ⚠
- p.Arg719His Single submitter Inborn genetic diseases ⚠
- p.Arg719Pro Single submitter Inborn genetic diseases
- p.Arg724Gly Single submitter Inborn genetic diseases ⚠
- p.Arg75Gln Single submitter ⚠
- p.Arg765Cys Single submitter spastic ataxia 2
- p.Arg765His Single submitter ⚠
- p.Arg765Pro Single submitter Inborn genetic diseases ⚠
- p.Arg768Gln Single submitter spastic ataxia 2 ⚠
- p.Arg768Trp Single submitter Inborn genetic diseases ⚠
- p.Arg801Trp Single submitter Inborn genetic diseases ⚠
- p.Arg826Gly Single submitter spastic ataxia 2 ⚠
- p.Arg834Gln Single submitter Inborn genetic diseases ⚠
- p.Arg856Gln Single submitter spastic ataxia 2 ⚠
- p.Arg856Trp Single submitter spastic ataxia 2 ⚠
- p.Arg862Gln Single submitter ⚠
- p.Arg867Cys Single submitter spastic ataxia 2 ⚠
- p.Arg867His Single submitter Inborn genetic diseases ⚠
- p.Arg867Pro Single submitter spastic ataxia 2 ⚠
- p.Arg940His Single submitter spastic ataxia 2
- p.Arg958Trp Single submitter spastic ataxia 2 ⚠
- p.Arg963His Single submitter Inborn genetic diseases ⚠
- p.Arg968Ser Single submitter spastic ataxia 2
- p.Arg988Trp Single submitter Inborn genetic diseases ⚠
- p.Asn200Asp Single submitter Inborn genetic diseases ⚠
- p.Asn316Ser Single submitter Inborn genetic diseases ⚠
- p.Asn316Thr Single submitter Inborn genetic diseases ⚠
- p.Asn331Ser Single submitter spastic ataxia 2 ⚠
- p.Asn359Ser Single submitter ⚠
- p.Asn39Ser Single submitter spastic ataxia 2 ⚠
- p.Asn430Asp Single submitter Inborn genetic diseases ⚠
- p.Asn571Thr Single submitter Inborn genetic diseases ⚠
- p.Asn984Lys Single submitter hereditary spastic paraplegia ⚠
- p.Asn984Thr Single submitter spastic ataxia 2 ⚠
- p.Asp1095Asn Single submitter Inborn genetic diseases ⚠
- p.Asp194Glu Single submitter Inborn genetic diseases ⚠
- p.Asp237Ala Single submitter Inborn genetic diseases ⚠
- p.Asp248Gly Single submitter spastic ataxia 2 ⚠
- p.Asp662Asn Single submitter spastic ataxia 2 ⚠
- p.Asp662His Single submitter Inborn genetic diseases ⚠
- p.Asp790Asn Single submitter spastic ataxia 2 ⚠
- p.Asp805Glu Single submitter Inborn genetic diseases ⚠
- p.Asp838Asn Single submitter ⚠
- p.Asp855Glu Single submitter hereditary spastic paraplegia ⚠
- p.Cys123Phe Single submitter Inborn genetic diseases ⚠
- p.Cys350Tyr Single submitter spastic ataxia 2 ⚠
- p.Gln1047Arg Single submitter spastic ataxia 2 ⚠
- p.Gln1047Lys Single submitter Inborn genetic diseases ⚠
- p.Gln1063Lys Single submitter ⚠
- p.Gln227Arg Single submitter Inborn genetic diseases ⚠
- p.Gln227His Single submitter Inborn genetic diseases ⚠
- p.Gln750Arg Single submitter Inborn genetic diseases ⚠
- p.Gln845Leu Single submitter Inborn genetic diseases ⚠
- p.Glu1008Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1098Lys Single submitter spastic ataxia 2 ⚠
- p.Glu19Lys Single submitter ⚠
- p.Glu424Lys Single submitter Inborn genetic diseases ⚠
- p.Glu471Gly Single submitter Inborn genetic diseases ⚠
- p.Glu485Ala Single submitter Inborn genetic diseases ⚠
- p.Glu577Asp Single submitter Inborn genetic diseases ⚠
- p.Glu781Asp Single submitter Inborn genetic diseases ⚠
- p.Glu809Gln Single submitter spastic ataxia 2 ⚠
- p.Glu823Val Single submitter spastic ataxia 2 ⚠
- p.Glu883Gln Single submitter spastic ataxia 2
- p.Glu884Lys Single submitter spastic ataxia 2 ⚠
- p.Glu887Val Single submitter Inborn genetic diseases ⚠
- p.Glu901Lys Single submitter spastic ataxia 2 ⚠
- p.Glu945Lys Single submitter spastic ataxia 2 ⚠
- p.Glu989Asp Single submitter ⚠
- p.Gly1036Glu Single submitter Inborn genetic diseases ⚠
- p.Gly1038Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1042Val Single submitter Inborn genetic diseases ⚠
- p.Gly1044Asp Single submitter Inborn genetic diseases ⚠
- p.Gly114Arg Single submitter Inborn genetic diseases ⚠
- p.Gly251Val Single submitter spastic ataxia 2 ⚠
- p.Gly268Ala Single submitter spastic ataxia 2 ⚠
- p.Gly389Val Single submitter Inborn genetic diseases ⚠
- p.Gly421Arg Single submitter spastic ataxia 2 ⚠
- p.Gly536Ala Single submitter ⚠
- p.Gly554Arg Single submitter hereditary spastic paraplegia ⚠
- p.Gly565Glu Single submitter spastic ataxia 2 ⚠
- p.Gly584Arg Single submitter spastic ataxia 2 ⚠
- p.Gly616Glu Single submitter spastic ataxia 2 ⚠
- p.Gly736Cys Single submitter Inborn genetic diseases ⚠
- p.Gly767Glu Single submitter Inborn genetic diseases ⚠
- p.Gly812Arg Single submitter spastic ataxia 2 ⚠
- p.Gly842Arg Single submitter Inborn genetic diseases ⚠
- p.Gly954Asp Single submitter ⚠
- p.Gly960Arg Single submitter hereditary spastic paraplegia ⚠
- p.Gly960Trp Single submitter Inborn genetic diseases ⚠
- p.His1012Gln Single submitter Inborn genetic diseases ⚠
- p.His1028Tyr Single submitter spastic ataxia 2 ⚠
- p.His230Tyr Single submitter Inborn genetic diseases ⚠
- p.His878Arg Single submitter hereditary spastic paraplegia ⚠
- p.His973Gln Single submitter Inborn genetic diseases ⚠
- p.His987Gln Single submitter spastic ataxia 2 ⚠
- p.Ile118Leu Single submitter spastic ataxia 2 ⚠
- p.Ile354Met Single submitter spastic ataxia 2 ⚠
- p.Ile354Val Single submitter Inborn genetic diseases ⚠
- p.Ile37Val Single submitter spastic ataxia 2 ⚠
- p.Ile539Thr Single submitter Inborn genetic diseases ⚠
- p.Ile637Val Single submitter Inborn genetic diseases ⚠
- p.Ile707Val Single submitter Inborn genetic diseases ⚠
- p.Leu233Phe Single submitter spastic ataxia 2 ⚠
- p.Leu246Ser Single submitter Inborn genetic diseases ⚠
- p.Leu423Val Single submitter spastic ataxia 2 ⚠
- p.Leu664Arg Single submitter Inborn genetic diseases ⚠
- p.Leu866His Single submitter spastic ataxia 2 ⚠
- p.Leu952Met Single submitter Inborn genetic diseases ⚠
- p.Leu962Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1097Asn Single submitter ⚠
- p.Lys240Arg Single submitter ⚠
- p.Lys496Arg Single submitter spastic ataxia 2 ⚠
- p.Lys629Arg Single submitter Inborn genetic diseases ⚠
- p.Lys645Asn Single submitter ⚠
- p.Lys656Glu Single submitter Inborn genetic diseases ⚠
- p.Lys7Arg Single submitter spastic ataxia 2 ⚠
- p.Lys7Gln Single submitter spastic ataxia 2 ⚠
- p.Lys839Arg Single submitter spastic ataxia 2 ⚠
- p.Met147Ile Single submitter Inborn genetic diseases ⚠
- p.Met196Ile Single submitter spastic ataxia 2 ⚠
- p.Met196Val Single submitter Inborn genetic diseases ⚠
- p.Met210Leu Single submitter ⚠
- p.Met263Leu Single submitter Inborn genetic diseases ⚠
- p.Met288Val Single submitter ⚠
- p.Met441Ile Single submitter spastic ataxia 2 ⚠
- p.Met530Arg Single submitter Inborn genetic diseases ⚠
- p.Met589Ile Single submitter spastic ataxia 2 ⚠
- p.Met744Thr Single submitter spastic ataxia 2 ⚠
- p.Met908Ile Single submitter ⚠
- p.Met994Thr Single submitter Inborn genetic diseases ⚠
- p.Phe493Leu Single submitter ⚠
- p.Phe969Ser Single submitter ⚠
- p.Phe969Val Single submitter Inborn genetic diseases
- p.Pro1002Leu Single submitter spastic ataxia 2 ⚠
- p.Pro1020Leu Single submitter spastic ataxia 2 ⚠
- p.Pro1029Leu Single submitter spastic ataxia 2 ⚠
- p.Pro1079His Single submitter spastic ataxia 2 ⚠
- p.Pro1080Arg Single submitter spastic ataxia 2 ⚠
- p.Pro1080fs Single submitter spastic ataxia 2
- p.Pro1085Ser Single submitter spastic ataxia 2 ⚠
- p.Pro176= Single submitter
- p.Pro299Ala Single submitter Inborn genetic diseases ⚠
- p.Pro408Gln Single submitter spastic ataxia 2 ⚠
- p.Pro413Leu Single submitter spastic ataxia 2 ⚠
- p.Pro550Arg Single submitter ⚠
- p.Pro552Arg Single submitter Inborn genetic diseases ⚠
- p.Pro562Ser Single submitter ⚠
- p.Pro613Gln Single submitter Inborn genetic diseases ⚠
- p.Pro617Leu Single submitter ⚠
- p.Pro618Ser Single submitter spastic ataxia 2 ⚠
- p.Pro739Arg Single submitter hereditary spastic paraplegia ⚠
- p.Pro739Leu Single submitter spastic ataxia 2 ⚠
- p.Pro789Leu Single submitter spastic ataxia 2 ⚠
- p.Pro789Ser Single submitter Inborn genetic diseases ⚠
- p.Pro889Leu Single submitter spastic ataxia 2 ⚠
- p.Pro904Arg Single submitter spastic ataxia 2 ⚠
- p.Pro916Leu Single submitter
- p.Pro917Thr Single submitter spastic ataxia 2
- p.Pro971Thr Single submitter spastic ataxia 2
- p.Ser1033Phe Single submitter spastic ataxia 2 ⚠
- p.Ser104Phe Single submitter spastic ataxia 2 ⚠
- p.Ser1060Pro Single submitter Inborn genetic diseases ⚠
- p.Ser131Arg Single submitter spastic ataxia 2 ⚠