Sugi Variant

Sugi Variant/KIF1A

KIF1A — 3379 ClinVar variants

All ClinVar germline KIF1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1135 flagged for review →

76 Pathogenic · 32 Pathogenic/Likely pathogenic · 103 Likely pathogenic · 358 Conflicting · 162 Benign · 35 Benign/Likely benign · 1344 Likely benign · 1269 Uncertain significance

Full KIF1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1135

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

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

Predictors agree, ClinVar conflicts 174

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 174

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 652

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 652

Predictors split 306

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 306

All KIF1A variants

Pathogenic 76

  • p.Glu253Lys Multiple submitters KIF1A-related disorder
  • p.Ser215Arg Multiple submitters intellectual disability, autosomal dominant 9
  • p.Ser58Leu Multiple submitters spastic paraplegia 30A, autosomal dominant
  • p.Thr344Met Multiple submitters hereditary spastic paraplegia 30
  • p.Thr99Met Multiple submitters PEHO syndrome
  • c.1685-1G>C Single submitter
  • c.224_363+71delinsT Single submitter neuropathy, hereditary sensory, type 2C
  • c.4122+1G>A Single submitter spastic paraplegia 30A, autosomal dominant
  • c.4869-2A>C Single submitter
  • c.785_798+1del Single submitter hereditary spastic paraplegia 30
  • c.798+1G>C Single submitter intellectual disability, autosomal dominant 9
  • c.798+2T>C Single submitter Spastic paraplegia
  • c.798+2T>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.864+1del Single submitter hereditary spastic paraplegia 30
  • p.Ala334Val Single submitter hereditary spastic paraplegia 30
  • p.Ala4fs Single submitter hereditary spastic paraplegia 30
  • p.Ala68Glu Single submitter neuropathy, hereditary sensory, type 2C
  • p.Arg11fs Single submitter neuropathy, hereditary sensory, type 2C
  • p.Arg1672Ter Single submitter hereditary spastic paraplegia 30
  • p.Arg254Pro Single submitter
  • p.Arg307Ter Single submitter hereditary spastic paraplegia 30
  • p.Asn211Asp Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Asn211His Single submitter
  • p.Asn272del Single submitter KIF1A-related disorder
  • p.Asn405fs Single submitter hereditary spastic paraplegia 30
  • p.Asp156Val Single submitter neuropathy, hereditary sensory, type 2C
  • p.Cys1027fs Single submitter neuropathy, hereditary sensory, type 2C
  • p.Cys26Arg Single submitter hereditary spastic paraplegia 30
  • p.Cys92Arg Single submitter neuropathy, hereditary sensory, type 2C
  • p.Cys92Tyr Single submitter
  • p.Gln121Ter Single submitter hereditary spastic paraplegia 30
  • p.Gln1442Ter Single submitter neuropathy, hereditary sensory, type 2C
  • p.Gln1549fs Single submitter neuropathy, hereditary sensory, type 2C
  • p.Gln1661Ter Single submitter hereditary spastic paraplegia 30
  • p.Gln1669Ter Single submitter neuropathy, hereditary sensory, type 2C
  • p.Gln652Ter Single submitter neuropathy, hereditary sensory, type 2C
  • p.Gln70Lys Single submitter neuropathy, hereditary sensory, type 2C
  • p.Gln757fs Single submitter hereditary spastic paraplegia 30
  • p.Glu1025fs Single submitter intellectual disability, autosomal dominant 9
  • p.Glu1567fs Single submitter hereditary spastic paraplegia 30
  • p.Glu267Gln Single submitter neuropathy, hereditary sensory, type 2C
  • p.Glu797Ter Single submitter hereditary spastic paraplegia 30
  • p.Glu913Ter Single submitter KIF1A-related disorder
  • p.Gly117Val Single submitter Inborn genetic diseases
  • p.Gly199_Asn200insSerProGluSerThrTrp Single submitter KIF1A related neurological disorder
  • p.Gly251Arg Single submitter neuropathy, hereditary sensory, type 2C
  • p.Gly279Arg Single submitter
  • p.Gly78Arg Single submitter hereditary spastic paraplegia 30
  • p.His171Pro Single submitter
  • p.His218Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2A
  • p.Ile271_Asn272del Single submitter intellectual disability, autosomal dominant 9
  • p.Leu1542fs Single submitter hereditary spastic paraplegia 30
  • p.Leu174Pro Single submitter hereditary spastic paraplegia 30
  • p.Leu246Arg Single submitter neuropathy, hereditary sensory, type 2C
  • p.Leu331Pro Single submitter hereditary spastic paraplegia 30
  • p.Leu372Val Single submitter neuropathy, hereditary sensory, type 2C
  • p.Leu818fs Single submitter neuropathy, hereditary sensory, type 2C
  • p.Lys103Thr Single submitter
  • p.Pro1510fs Single submitter hereditary spastic paraplegia 30
  • p.Pro510fs Single submitter
  • p.Ser198Ter Single submitter neuropathy, hereditary sensory, type 2C
  • p.Ser215Asn Single submitter hereditary spastic paraplegia 30
  • p.Ser217Cys Single submitter
  • p.Ser58Trp Single submitter neuropathy, hereditary sensory, type 2C
  • p.Ser69Trp Single submitter hereditary spastic paraplegia 30
  • p.Thr1221fs Single submitter hereditary spastic paraplegia 30
  • p.Thr312Pro Single submitter neuropathy, hereditary sensory, type 2C
  • p.Thr565fs Single submitter neuropathy, hereditary sensory, type 2C
  • p.Tyr67Ter Single submitter hereditary spastic paraplegia 30
  • p.Tyr74_Arg75insAsp Single submitter
  • p.Tyr89Asp Single submitter intellectual disability, autosomal dominant 9
  • p.Val220Phe Single submitter hereditary spastic paraplegia 30
  • p.Val281Leu Single submitter hereditary spastic paraplegia 30
  • c.183+293_798+287del No assertion criteria intellectual disability, autosomal dominant 9
  • p.Ala255Val No assertion criteria spastic paraplegia 30B, autosomal recessive
  • p.Ser1758fs No assertion criteria neuropathy, hereditary sensory, type 2C

Pathogenic/Likely pathogenic 32

  • c.2582+1G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.798+1G>A Multiple submitters hereditary spastic paraplegia 30
  • p.Ala269fs Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ala85Asp Multiple submitters hereditary spastic paraplegia 30
  • p.Arg11Gln Multiple submitters KIF1A-related disorder
  • p.Arg11Trp Multiple submitters hereditary spastic paraplegia 30
  • p.Arg13Cys Multiple submitters hereditary spastic paraplegia 30
  • p.Arg13His Multiple submitters Spastic paraplegia
  • p.Arg1447Ter Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Arg167Cys Multiple submitters spastic paraplegia 30A, autosomal dominant
  • p.Arg167His Multiple submitters hereditary spastic paraplegia 30
  • p.Arg169Lys Multiple submitters
  • p.Arg216Cys Multiple submitters spastic paraplegia 30A, autosomal dominant
  • p.Arg216His Multiple submitters KIF1A-related disorder
  • p.Arg254Gln Multiple submitters spastic paraplegia 30A, autosomal dominant
  • p.Arg254Trp Multiple submitters hereditary spastic paraplegia 30
  • p.Arg307Gln Multiple submitters KIF1A-related disorder
  • p.Arg316Trp Multiple submitters KIF1A-related disorder
  • p.Arg784Ter Multiple submitters hereditary spastic paraplegia 30
  • p.Asn272Ser Multiple submitters hereditary spastic paraplegia 30
  • p.Glu267Lys Multiple submitters Inborn genetic diseases
  • p.Gly102Ser Multiple submitters hereditary spastic paraplegia 30
  • p.Gly199Arg Multiple submitters autosomal dominant non-syndromic intellectual disability
  • p.Gly268Glu Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Gly78Ser Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Leu249Pro Multiple submitters Inborn genetic diseases
  • p.Leu947fs Multiple submitters KIF1A-related disorder
  • p.Pro305Leu Multiple submitters KIF1A related neurological disorder
  • p.Ser274Leu Multiple submitters hereditary spastic paraplegia 30
  • p.Ser69Leu Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Thr258Met Multiple submitters KIF1A-related disorder
  • p.Tyr338Cys Multiple submitters hereditary spastic paraplegia 30

Likely pathogenic 103

  • p.Ala255Asp Multiple submitters hereditary spastic paraplegia 30
  • p.Arg13Ser Multiple submitters
  • p.Arg350Trp Multiple submitters hereditary spastic paraplegia 30
  • p.Leu173Pro Multiple submitters Inborn genetic diseases
  • p.Val144Phe Multiple submitters spastic paraplegia 30A, autosomal dominant
  • p.Val186Phe Multiple submitters intellectual disability, autosomal dominant 9
  • c.1037+1G>C Single submitter hereditary spastic paraplegia 30
  • c.1181-1G>A Single submitter
  • c.1208-2A>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.1421+2T>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.1578-2A>G Single submitter hereditary spastic paraplegia 30
  • c.2116+1G>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.3203-1G>A Single submitter hereditary spastic paraplegia 30
  • c.3374+2T>G Single submitter hereditary spastic paraplegia 30
  • c.3465+1G>A Single submitter hereditary spastic paraplegia 30
  • c.3750-2A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.3901+415C>T Single submitter intellectual disability, autosomal dominant 9
  • c.3901+498del Single submitter intellectual disability, autosomal dominant 9
  • c.430-2A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.4319-1G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.4319-2A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.4868+1G>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.5022-1G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.609-1G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.864+1_864+24del Single submitter neuropathy, hereditary sensory, type 2C
  • c.864+1G>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.864+2T>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.958+1G>C Single submitter hereditary spastic paraplegia 30
  • p.Ala101Val Single submitter hereditary spastic paraplegia 30
  • p.Ala185Thr Single submitter
  • p.Ala202Pro Single submitter intellectual disability, autosomal dominant 9
  • p.Ala250Asp Single submitter neuropathy, hereditary sensory, type 2C
  • p.Ala250Pro Single submitter KIF1A related neurological disorder
  • p.Ala269Asp Single submitter hereditary spastic paraplegia 30
  • p.Ala330Asp Single submitter
  • p.Ala334Thr Single submitter hereditary spastic paraplegia 30
  • p.Arg11Leu Single submitter neuropathy, hereditary sensory, type 2C
  • p.Arg1291fs Single submitter
  • p.Arg1304Ter Single submitter
  • p.Arg13Leu Single submitter hereditary spastic paraplegia 30
  • p.Arg169Met Single submitter KIF1A-related disorder
  • p.Arg169Thr Single submitter intellectual disability, autosomal dominant 9
  • p.Arg169Trp Single submitter spastic paraplegia 30A, autosomal dominant
  • p.Arg254Gly Single submitter hereditary spastic paraplegia 30
  • p.Arg307Gly Single submitter intellectual disability, autosomal dominant 9
  • p.Arg307Pro Single submitter intellectual disability, autosomal dominant 9
  • p.Arg350Gly Single submitter hereditary spastic paraplegia 30
  • p.Asn272Asp Single submitter intellectual disability, autosomal dominant 9
  • p.Asp308Gly Single submitter intellectual disability, autosomal dominant 9
  • p.Gln632Ter Single submitter hereditary spastic paraplegia 30
  • p.Glu148Asp Single submitter intellectual disability, autosomal dominant 9
  • p.Glu148Lys Single submitter
  • p.Glu19Lys Single submitter spastic paraplegia 30A, autosomal dominant
  • p.Glu253Asp Single submitter hereditary spastic paraplegia 30
  • p.Gly102Asp Single submitter intellectual disability, autosomal dominant 9
  • p.Gly199Val Single submitter intellectual disability, autosomal dominant 9
  • p.Gly268Arg Single submitter hereditary spastic paraplegia 30
  • p.Gly268Trp Single submitter neuropathy, hereditary sensory, type 2C
  • p.Gly268Val Single submitter intellectual disability, autosomal dominant 9
  • p.Gly493Ser Single submitter
  • p.Gly78Asp Single submitter hereditary spastic paraplegia 30
  • p.Gly97Arg Single submitter KIF1A-related disorder
  • p.Ile271Ser Single submitter intellectual disability, autosomal dominant 9
  • p.Ile27Phe Single submitter hereditary spastic paraplegia 30
  • p.Ile28Thr Single submitter KIF1A-related disorder
  • p.Leu157Phe Single submitter Inborn genetic diseases
  • p.Leu157Pro Single submitter hereditary spastic paraplegia 30
  • p.Leu249Gln Single submitter intellectual disability, autosomal dominant 9
  • p.Leu249Met Single submitter neuropathy, hereditary sensory, type 2C
  • p.Leu275Gln Single submitter neuropathy, hereditary sensory, type 2C
  • p.Leu275Pro Single submitter Inborn genetic diseases
  • p.Lys280Arg Single submitter intellectual disability, autosomal dominant 9
  • p.Met108Thr Single submitter neuropathy, hereditary sensory, type 2C
  • p.Met147Arg Single submitter
  • p.Met210Arg Single submitter intellectual disability, autosomal dominant 9
  • p.Met210Ile Single submitter hereditary spastic paraplegia 30
  • p.Pro14Ala Single submitter neuropathy, hereditary sensory, type 2C
  • p.Pro14Thr Single submitter intellectual disability, autosomal dominant 9
  • p.Pro497Thr Single submitter
  • p.Ser214Asn Single submitter Inborn genetic diseases
  • p.Ser245Arg Single submitter
  • p.Ser309Pro Single submitter
  • p.Ser309Tyr Single submitter intellectual disability, autosomal dominant 9
  • p.Ser323Leu Single submitter KIF1A-related disorder
  • p.Ser323Pro Single submitter intellectual disability, autosomal dominant 9
  • p.Ser55Tyr Single submitter
  • p.Thr106Asn Single submitter hereditary spastic paraplegia 30
  • p.Thr204delinsLysAla Single submitter hereditary spastic paraplegia 30
  • p.Thr258Lys Single submitter hereditary spastic paraplegia 30
  • p.Thr277Pro Single submitter
  • p.Thr312Ile Single submitter hereditary spastic paraplegia 30
  • p.Thr341Pro Single submitter hereditary spastic paraplegia 30
  • p.Thr35Ala Single submitter neuropathy, hereditary sensory, type 2C
  • p.Thr35Asn Single submitter hereditary spastic paraplegia 30
  • p.Thr99Lys Single submitter
  • p.Tyr1426Ter Single submitter hereditary spastic paraplegia 30
  • p.Tyr306Asn Single submitter
  • p.Tyr89Phe Single submitter hereditary spastic paraplegia 30 ⚠
  • p.His218Tyr No assertion criteria intellectual disability, autosomal dominant 9
  • p.Leu126Pro No assertion criteria intellectual disability, autosomal dominant 9
  • p.Leu278Pro No assertion criteria intellectual disability, autosomal dominant 9
  • p.Lys48Glu No assertion criteria KIF1A-related disorder
  • p.Trp1292Ter No assertion criteria KIF1A-related disorder

Conflicting classifications of pathogenicity 358

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

Benign 162

Benign/Likely benign 35

  • c.1208-73G>A Multiple submitters
  • c.1421+19G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1421+9C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.184-10C>T Multiple submitters hereditary spastic paraplegia
  • c.2445-8C>T Multiple submitters hereditary spastic paraplegia 30
  • c.2977+13C>T Multiple submitters hereditary spastic paraplegia 30
  • c.3063+17C>T Multiple submitters hereditary spastic paraplegia 30
  • c.363+16C>G Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.363+16C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.363+9C>G Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.3749+13G>T Multiple submitters hereditary spastic paraplegia 30
  • c.3816+18C>T Multiple submitters hereditary spastic paraplegia 30
  • c.3816+9C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.4007+7C>T Multiple submitters hereditary spastic paraplegia 30
  • c.4318+17C>T Multiple submitters hereditary spastic paraplegia 30
  • c.5021+16C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.864+16C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ala795= Multiple submitters Inborn genetic diseases
  • p.Arg938Gln Multiple submitters Inborn genetic diseases
  • p.Gln1109= Multiple submitters Inborn genetic diseases
  • p.Gln1275= Multiple submitters hereditary spastic paraplegia 30
  • p.Glu914_Glu917del Multiple submitters Inborn genetic diseases
  • p.Glu917del Multiple submitters KIF1A related neurological disorder
  • p.His1094= Multiple submitters Inborn genetic diseases
  • p.His1284= Multiple submitters hereditary spastic paraplegia 30
  • p.Ile77= Multiple submitters Inborn genetic diseases
  • p.Leu331= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Pro1227= Multiple submitters hereditary spastic paraplegia
  • p.Pro1625= Multiple submitters Inborn genetic diseases
  • p.Pro501= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Pro693= Multiple submitters hereditary spastic paraplegia 30
  • p.Thr1604= Multiple submitters Inborn genetic diseases
  • p.Thr1690= Multiple submitters Inborn genetic diseases
  • p.Thr258= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Thr898= Multiple submitters

Likely benign 1344

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

  • c.1038-15C>T Multiple submitters hereditary spastic paraplegia 30
  • c.1038-19A>G Multiple submitters hereditary spastic paraplegia 30
  • c.1038-5C>T Multiple submitters hereditary spastic paraplegia 30
  • c.106+13C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1181-5C>T Multiple submitters
  • c.1208-14C>T Multiple submitters hereditary spastic paraplegia 30
  • c.1208-32G>A Multiple submitters
  • c.1341+7G>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1341+94C>T Multiple submitters
  • c.1421+10G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1422-8T>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1577+7G>A Multiple submitters hereditary spastic paraplegia 30
  • c.1578-4G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1578-7C>G Multiple submitters hereditary spastic paraplegia 30
  • c.1685-13A>C Multiple submitters hereditary spastic paraplegia 30
  • c.1685-13A>G Multiple submitters hereditary spastic paraplegia 30
  • c.1685-45A>G Multiple submitters
  • c.1768+10G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1768+17C>T Multiple submitters hereditary spastic paraplegia 30
  • c.1768+18G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1768+19G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1769-9G>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.183+16G>C Multiple submitters hereditary spastic paraplegia 30
  • c.183+8G>A Multiple submitters hereditary spastic paraplegia 30
  • c.184-111T>C Multiple submitters
  • c.184-14T>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.184-9G>A Multiple submitters hereditary spastic paraplegia 30
  • c.1949+19C>G Multiple submitters hereditary spastic paraplegia 30
  • c.2022+10G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.2022+17C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.2022+18G>A Multiple submitters intellectual disability, autosomal dominant 9
  • c.2022+9C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.2117-20C>T Multiple submitters hereditary spastic paraplegia 30
  • c.2444+10G>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.2444+17G>A Multiple submitters hereditary spastic paraplegia 30
  • c.2444+19T>C Multiple submitters hereditary spastic paraplegia 30
  • c.2445-11C>G Multiple submitters hereditary spastic paraplegia 30
  • c.2445-11C>T Multiple submitters hereditary spastic paraplegia 30
  • c.3063+18G>A Multiple submitters hereditary spastic paraplegia 30
  • c.3202+7C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.3203-10C>T Multiple submitters hereditary spastic paraplegia 30
  • c.3203-11A>T Multiple submitters hereditary spastic paraplegia 30
  • c.3374+13T>C Multiple submitters hereditary spastic paraplegia 30
  • c.3584+11T>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.3584+16C>T Multiple submitters hereditary spastic paraplegia 30
  • c.3584+7G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.3585-95G>A Multiple submitters
  • c.363+14G>A Multiple submitters hereditary spastic paraplegia 30
  • c.363+20C>T Multiple submitters hereditary spastic paraplegia 30
  • c.363+7A>G Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.363+9C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.364-16C>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.3640+13T>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.3641-27A>G Multiple submitters
  • c.3749+83G>A Multiple submitters
  • c.3816+20C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.3901+8C>T Multiple submitters hereditary spastic paraplegia 30
  • c.3902-11C>T Multiple submitters hereditary spastic paraplegia 30
  • c.3902-19C>T Multiple submitters hereditary spastic paraplegia 30
  • c.4007+17del Multiple submitters hereditary spastic paraplegia 30
  • c.4007+20G>A Multiple submitters hereditary spastic paraplegia 30
  • c.4123-11G>A Multiple submitters hereditary spastic paraplegia 30
  • c.4123-11G>C Multiple submitters hereditary spastic paraplegia 30
  • c.4123-5C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.4257-14_4257-12del Multiple submitters hereditary spastic paraplegia 30
  • c.429+12C>T Multiple submitters hereditary spastic paraplegia 30
  • c.429+8T>C Multiple submitters hereditary spastic paraplegia 30
  • c.4319-13G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.4319-14C>T Multiple submitters intellectual disability, autosomal dominant 9
  • c.4666-127G>T Multiple submitters
  • c.4666-17G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.4666-20C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.4666-42C>T Multiple submitters
  • c.4744-4G>A Multiple submitters hereditary spastic paraplegia 30
  • c.4868+69C>T Multiple submitters
  • c.4869-13C>T Multiple submitters hereditary spastic paraplegia 30
  • c.5021+28G>A Multiple submitters
  • c.5022-16CT[5] Multiple submitters hereditary spastic paraplegia 30
  • c.5022-35C>T Multiple submitters
  • c.5214+16G>T Multiple submitters hereditary spastic paraplegia 30
  • c.5333+18G>A Multiple submitters hereditary spastic paraplegia 30
  • c.5333+8C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.5334-11C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.609-17G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.609-8C>T Multiple submitters hereditary spastic paraplegia 30
  • c.798+19T>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.864+13G>A Multiple submitters hereditary spastic paraplegia 30
  • c.864+8G>A Multiple submitters hereditary spastic paraplegia 30
  • c.865-150G>T Multiple submitters
  • c.882+7G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.883-5C>A Multiple submitters Inborn genetic diseases
  • c.883-96C>T Multiple submitters
  • c.883-9C>G Multiple submitters hereditary spastic paraplegia 30
  • c.959-39A>C Multiple submitters
  • c.-13G>A Multiple submitters hereditary spastic paraplegia 30
  • c.-60-276A>T Multiple submitters
  • c.-61+27C>T Multiple submitters
  • c.*1686G>C Multiple submitters hereditary spastic paraplegia 30
  • c.*3596C>T Multiple submitters hereditary spastic paraplegia 30
  • p.Ala101= Multiple submitters hereditary spastic paraplegia 30
  • p.Ala1118= Multiple submitters hereditary spastic paraplegia 30
  • p.Ala1254= Multiple submitters hereditary spastic paraplegia 30
  • p.Ala1344= Multiple submitters Inborn genetic diseases
  • p.Ala1553= Multiple submitters Inborn genetic diseases
  • p.Ala1642= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ala1735= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ala1744= Multiple submitters Inborn genetic diseases
  • p.Ala1756= Multiple submitters hereditary spastic paraplegia 30
  • p.Ala2= Multiple submitters hereditary spastic paraplegia 30
  • p.Ala219= Multiple submitters Inborn genetic diseases
  • p.Ala286= Multiple submitters hereditary spastic paraplegia 30
  • p.Ala418= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ala423= Multiple submitters Inborn genetic diseases
  • p.Ala716= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ala9= Multiple submitters Inborn genetic diseases
  • p.Ala987= Multiple submitters intellectual disability, autosomal dominant 9
  • p.Arg1302= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Arg1421= Multiple submitters hereditary spastic paraplegia 30
  • p.Arg1443= Multiple submitters hereditary spastic paraplegia 30
  • p.Arg153= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Arg1717= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Arg1750= Multiple submitters Inborn genetic diseases
  • p.Arg378= Multiple submitters hereditary spastic paraplegia 30
  • p.Arg529= Multiple submitters Inborn genetic diseases
  • p.Arg690= Multiple submitters Inborn genetic diseases
  • p.Arg985= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asn1063= Multiple submitters hereditary spastic paraplegia 30
  • p.Asn1248= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asn209= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asn337= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asn507= Multiple submitters hereditary spastic paraplegia 30
  • p.Asn738= Multiple submitters Inborn genetic diseases
  • p.Asn803= Multiple submitters hereditary spastic paraplegia 30
  • p.Asn841= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asp1015= Multiple submitters Inborn genetic diseases
  • p.Asp1053= Multiple submitters Inborn genetic diseases
  • p.Asp1093Gly Multiple submitters hereditary spastic paraplegia 30
  • p.Asp1131= Multiple submitters Inborn genetic diseases
  • p.Asp1192= Multiple submitters hereditary spastic paraplegia 30
  • p.Asp1310= Multiple submitters Inborn genetic diseases
  • p.Asp231= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asp783= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Cys1027= Multiple submitters hereditary spastic paraplegia 30
  • p.Cys123= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Cys1574= Multiple submitters Inborn genetic diseases
  • p.Gln1039= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Glu1046= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Glu1503= Multiple submitters Inborn genetic diseases
  • p.Glu533= Multiple submitters Inborn genetic diseases
  • p.Glu663= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Gly1145= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Gly1525= Multiple submitters Inborn genetic diseases
  • p.Gly1599= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Gly1618= Multiple submitters Inborn genetic diseases
  • p.Gly262= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Gly268= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Gly389= Multiple submitters hereditary spastic paraplegia 30
  • p.Gly489= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Gly493= Multiple submitters hereditary spastic paraplegia 30
  • p.Gly542= Multiple submitters Inborn genetic diseases
  • p.His1130= Multiple submitters hereditary spastic paraplegia 30
  • p.His1231= Multiple submitters Inborn genetic diseases
  • p.His1432= Multiple submitters hereditary spastic paraplegia 30
  • p.His1689= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.His1763= Multiple submitters hereditary spastic paraplegia 30
  • p.His218= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ile1127= Multiple submitters Inborn genetic diseases
  • p.Ile1314= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ile1373= Multiple submitters Inborn genetic diseases
  • p.Ile360= Multiple submitters Inborn genetic diseases
  • p.Ile443= Multiple submitters Inborn genetic diseases
  • p.Leu1088= Multiple submitters Inborn genetic diseases
  • p.Leu1533= Multiple submitters hereditary spastic paraplegia 30
  • p.Leu1557= Multiple submitters hereditary spastic paraplegia 30
  • p.Leu249= Multiple submitters hereditary spastic paraplegia 30
  • p.Leu683= Multiple submitters Inborn genetic diseases
  • p.Phe1175= Multiple submitters hereditary spastic paraplegia 30
  • p.Phe1392= Multiple submitters hereditary spastic paraplegia 30
  • p.Phe1697= Multiple submitters Inborn genetic diseases
  • p.Phe94= Multiple submitters Inborn genetic diseases
  • p.Phe955= Multiple submitters hereditary spastic paraplegia 30
  • p.Phe983= Multiple submitters Inborn genetic diseases
  • p.Pro1028= Multiple submitters hereditary spastic paraplegia 30
  • p.Pro1056= Multiple submitters Inborn genetic diseases
  • p.Pro1185= Multiple submitters hereditary spastic paraplegia 30
  • p.Pro1510= Multiple submitters Inborn genetic diseases
  • p.Pro1593= Multiple submitters Inborn genetic diseases
  • p.Pro1636= Multiple submitters Inborn genetic diseases
  • p.Pro1666= Multiple submitters hereditary spastic paraplegia 30
  • p.Pro292= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Pro437= Multiple submitters hereditary spastic paraplegia 30
  • p.Pro702= Multiple submitters hereditary spastic paraplegia 30
  • p.Pro854= Multiple submitters hereditary spastic paraplegia 30
  • p.Pro946= Multiple submitters
  • p.Pro998= Multiple submitters Inborn genetic diseases
  • p.Ser1200= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ser1312= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ser139= Multiple submitters Inborn genetic diseases
  • p.Ser1527= Multiple submitters Inborn genetic diseases
  • p.Ser1607= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ser1710= Multiple submitters Inborn genetic diseases
  • p.Ser217= Multiple submitters hereditary spastic paraplegia 30
  • p.Ser252= Multiple submitters hereditary spastic paraplegia 30
  • p.Ser309= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ser425= Multiple submitters intellectual disability, autosomal dominant 9
  • p.Ser556= Multiple submitters hereditary spastic paraplegia 30
  • p.Ser560= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ser598= Multiple submitters Inborn genetic diseases
  • p.Thr1504= Multiple submitters Inborn genetic diseases
  • p.Thr1561= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Thr1747= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Thr204= Multiple submitters Inborn genetic diseases
  • p.Thr213= Multiple submitters Inborn genetic diseases
  • p.Thr621= Multiple submitters Inborn genetic diseases
  • p.Thr729= Multiple submitters Inborn genetic diseases
  • p.Thr786= Multiple submitters hereditary spastic paraplegia 30
  • p.Thr99= Multiple submitters Inborn genetic diseases
  • p.Tyr1234= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Tyr1426= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Tyr146= Multiple submitters hereditary spastic paraplegia 30
  • p.Tyr1706= Multiple submitters hereditary spastic paraplegia 30
  • p.Tyr1767= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Tyr177= Multiple submitters hereditary spastic paraplegia 30
  • p.Val1107= Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Val1153= Multiple submitters intellectual disability, autosomal dominant 9
  • p.Val1299= Multiple submitters hereditary spastic paraplegia 30
  • p.Val1554= Multiple submitters hereditary spastic paraplegia 30
  • c.1037+12A>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.1037+13G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.1037+18A>G Single submitter hereditary spastic paraplegia 30
  • c.1037+8C>T Single submitter hereditary spastic paraplegia 30
  • c.1037+9T>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.1038-13C>G Single submitter hereditary spastic paraplegia 30
  • c.1038-13C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1038-14C>T Single submitter hereditary spastic paraplegia 30
  • c.1038-17C>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.1038-17C>T Single submitter hereditary spastic paraplegia 30
  • c.1038-19_1038-16dup Single submitter hereditary spastic paraplegia 30
  • c.1038-230G>A Single submitter
  • c.1038-3del Single submitter hereditary spastic paraplegia 30
  • c.1038-4C>G Single submitter
  • c.1038-4C>T Single submitter hereditary spastic paraplegia 30
  • c.106+12C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.106+16C>T Single submitter hereditary spastic paraplegia 30
  • c.106+18C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.106+7A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.107-10C>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.107-10C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.107-11C>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.107-19C>T Single submitter hereditary spastic paraplegia 30
  • c.107-294C>G Single submitter
  • c.107-4A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.107-9C>T Single submitter hereditary spastic paraplegia 30
  • c.1180+115G>A Single submitter
  • c.1180+15C>T Single submitter hereditary spastic paraplegia 30
  • c.1180+16A>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1180+17G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.1180+17G>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.1180+20T>C Single submitter hereditary spastic paraplegia 30
  • c.1180+210C>T Single submitter
  • c.1180+8C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1180+9C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1181-18C>T Single submitter
  • c.1181-206C>T Single submitter
  • c.1208-10C>T Single submitter hereditary spastic paraplegia 30
  • c.1208-13C>T Single submitter
  • c.1208-226C>T Single submitter
  • c.1208-43C>T Single submitter
  • c.1208-44C>T Single submitter
  • c.1208-68C>T Single submitter
  • c.1208-6C>T Single submitter hereditary spastic paraplegia 30
  • c.1208-71G>A Single submitter
  • c.1208-89C>T Single submitter
  • c.1208-94C>T Single submitter
  • c.1341+10C>T Single submitter hereditary spastic paraplegia 30
  • c.1341+11C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1341+14C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1341+17G>A Single submitter
  • c.1341+20C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1341+7G>A Single submitter hereditary spastic paraplegia 30
  • c.1341+9A>G Single submitter hereditary spastic paraplegia 30
  • c.1342-10C>T Single submitter hereditary spastic paraplegia 30
  • c.1342-12C>T Single submitter hereditary spastic paraplegia 30
  • c.1342-8A>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1421+12G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.1421+13G>A Single submitter hereditary spastic paraplegia 30
  • c.1421+16A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.1421+8G>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.1421+9C>G Single submitter hereditary spastic paraplegia 30
  • c.1422-10G>T Single submitter hereditary spastic paraplegia 30
  • c.1422-15G>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1422-19C>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.1422-20C>T Single submitter hereditary spastic paraplegia 30
  • c.1422-4C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1422-6C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1497+10A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.1497+16G>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.1497+18T>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.1497+19C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1498-10C>T Single submitter neuropathy, hereditary sensory, type 2C

Uncertain significance 1269

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

  • c.1181-6C>G Multiple submitters Inborn genetic diseases
  • c.1208-40G>A Multiple submitters intellectual disability, autosomal dominant 9
  • c.1498-3C>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1768+4T>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1949+5G>A Multiple submitters hereditary spastic paraplegia 30
  • c.1949+6G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.1950-3C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.2022+3G>A Multiple submitters intellectual disability, autosomal dominant 9
  • c.2022+4A>G Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.2445-3del Multiple submitters hereditary spastic paraplegia 30
  • c.2977+4C>T Multiple submitters KIF1A related neurological disorder
  • c.2977+5G>A Multiple submitters Inborn genetic diseases
  • c.2978-14T>G Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.2978-3C>T Multiple submitters Inborn genetic diseases
  • c.3465+4C>T Multiple submitters hereditary spastic paraplegia 30
  • c.363+4C>T Multiple submitters History of neurodevelopmental disorder
  • c.364-3C>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.4008-3C>A Multiple submitters hereditary spastic paraplegia 30
  • c.4256+5G>A Multiple submitters Inborn genetic diseases
  • c.4665+4G>C Multiple submitters Inborn genetic diseases
  • c.5021+6T>C Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.5214+3G>A Multiple submitters Inborn genetic diseases
  • c.5214+4C>A Multiple submitters Inborn genetic diseases
  • c.5214+5G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.608+3G>A Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.720+3G>A Multiple submitters hereditary spastic paraplegia
  • c.720+5G>A Multiple submitters Inborn genetic diseases
  • c.882+6C>T Multiple submitters neuropathy, hereditary sensory, type 2C
  • c.*108C>T Multiple submitters hereditary spastic paraplegia 30
  • c.*1883T>C Multiple submitters hereditary spastic paraplegia 30
  • c.*241C>G Multiple submitters hereditary spastic paraplegia 30
  • c.*2458G>A Multiple submitters hereditary spastic paraplegia 30
  • c.*2794C>T Multiple submitters hereditary spastic paraplegia 30
  • p.1048QG[3] Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Ala1091Asp Multiple submitters ⚠
  • p.Ala1133Thr Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ala1247Thr Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ala1344Val Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ala1653Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1744Val Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ala232Thr Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ala284Ser Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ala454Thr Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ala665Ser Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ala68Thr Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ala68Val Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ala739Thr Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ala933Val Multiple submitters Inborn genetic diseases
  • p.Ala95Thr Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ala997Asp Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1034Leu Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1043Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1104Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1206Leu Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1224Trp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg1277Gln Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1277Trp Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1302Pro Multiple submitters ⚠
  • p.Arg1336Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1336Trp Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1357Trp Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1395Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1395His Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1444Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1447Gln Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1457Trp Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1499Gln Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1558Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg155Cys Multiple submitters intellectual disability, autosomal dominant 9 ⚠
  • p.Arg155His Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg1702His Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1778Trp Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg1785del Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Arg1785Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg18Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg229His Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg264Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg355Cys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg355His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
  • p.Arg370Cys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg378Trp Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg422Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg432Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg465Trp Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg466Trp Multiple submitters KIF1A-related disorder ⚠
  • p.Arg471Gln Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg471Trp Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg588His Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg592Cys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg602Gln Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg610Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg615Cys Multiple submitters syndromic intellectual disability
  • p.Arg633Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg659His Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg662Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg673Trp Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg721Gln Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg721Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg732Trp Multiple submitters hereditary spastic paraplegia ⚠
  • p.Arg75Gln Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg784Gly Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Arg787Gln Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg787Trp Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg791Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Arg817Ser Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg880Cys Multiple submitters Inborn genetic diseases
  • p.Arg938Trp Multiple submitters intellectual disability, autosomal dominant 9
  • p.Arg944Trp Multiple submitters intellectual disability, autosomal dominant 9
  • p.Arg985Cys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Arg985His Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Asn1125= Multiple submitters hereditary spastic paraplegia 30
  • p.Asn1317Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asn1741Asp Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Asn1741Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asn235Ser Multiple submitters KIF1A-related disorder ⚠
  • p.Asn293Ser Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Asn293Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn337Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asn361Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asn66Lys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asn696Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Asn738Ser Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asp1016Asn Multiple submitters intellectual disability, autosomal dominant 9 ⚠
  • p.Asp1119Asn Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asp136_Asn137insAsp Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Asp136Asn Multiple submitters hereditary spastic paraplegia ⚠
  • p.Asp136Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1667Gly Multiple submitters hereditary spastic paraplegia 30
  • p.Asp1711Glu Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asp393His Multiple submitters hereditary spastic paraplegia 30
  • p.Asp488Val Multiple submitters spastic paraplegia 30B, autosomal recessive ⚠
  • p.Asp774Val Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Asp826Asn Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Gln1023His Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Gln1669Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Gln671Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1116Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Glu1132Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Glu1176Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Glu124Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Glu1297Lys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Glu1342Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1659Gln Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Glu179Gly Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Glu455Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu480Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu533Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Glu561Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu607Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Glu620Lys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Glu648Gly Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Glu700Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu701dup Multiple submitters Inborn genetic diseases
  • p.Glu903Lys Multiple submitters KIF1A related neurological disorder
  • p.Glu916_Glu917insAspGluGluGlu Multiple submitters Spastic paraplegia
  • p.Glu916Asp Multiple submitters
  • p.Glu917Asp Multiple submitters
  • p.Glu920Lys Multiple submitters Inborn genetic diseases
  • p.Gly1098= Multiple submitters hereditary spastic paraplegia 30
  • p.Gly1249Ser Multiple submitters intellectual disability, autosomal dominant 9 ⚠
  • p.Gly1692Ser Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Gly387Val Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Gly3Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Gly845Cys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.His1018Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.His1018Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His430Gln Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.His969Asp Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ile1127Thr Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ile524Thr Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ile65Thr Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ile793Val Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Leu1074Arg Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Leu1076del Multiple submitters hereditary spastic paraplegia 30
  • p.Leu1194Phe Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Leu1270Phe Multiple submitters intellectual disability, autosomal dominant 9 ⚠
  • p.Lys1233Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Lys1233Met Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Lys161Met Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Lys161Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1645Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys300del Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Lys580Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Lys755Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Met107Thr Multiple submitters ⚠
  • p.Met1265Ile Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Met1349Thr Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Met147Val Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Met1585Lys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Met1789_Ter1792delinsXaa Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Met595Val Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Phe1341Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe758Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Pro1071Gln Multiple submitters ⚠
  • p.Pro1138Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Pro1172Leu Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Pro1545Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Pro1605Ser Multiple submitters ⚠
  • p.Pro1675Leu Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Pro47Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Pro568Leu Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Pro693Thr Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Pro832Leu Multiple submitters neuropathy, hereditary sensory, type 2C
  • p.Pro888Ser Multiple submitters
  • p.Pro893Leu Multiple submitters Inborn genetic diseases
  • p.Ser1195Arg Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ser1326Phe Multiple submitters hereditary spastic paraplegia
  • p.Ser1394Pro Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ser1419Gly Multiple submitters intellectual disability, autosomal dominant 9 ⚠
  • p.Ser1580Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1607_Thr1608insSer Multiple submitters hereditary spastic paraplegia 30
  • p.Ser1611Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1629Cys Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ser415Leu Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ser428Asn Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Ser61Leu Multiple submitters hereditary spastic paraplegia ⚠
  • p.Ser678Arg Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ser689Phe Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Ser833Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser891Leu Multiple submitters Inborn genetic diseases
  • p.Ser992= Multiple submitters hereditary spastic paraplegia 30
  • p.Thr1279Met Multiple submitters KIF1A-related disorder ⚠
  • p.Thr1561Met Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Thr1602Ser Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Thr1604Asn Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Thr1604Ile Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Thr1739Ile Multiple submitters intellectual disability, autosomal dominant 9 ⚠
  • p.Thr187Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr237Ile Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Thr238Met Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Thr301Ile Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Thr46Met Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Thr709Ala Multiple submitters hereditary spastic paraplegia 30
  • p.Thr729Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr885Ile Multiple submitters Inborn genetic diseases
  • p.Tyr1239Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Tyr74Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Tyr808Cys Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val1061Ile Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val1107Ala Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Val1177Ala Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Val1177Ile Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val1255Met Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val168Met Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val1699Met Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val220Ile Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val38Ile Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Val576Ile Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Val750Met Multiple submitters hereditary spastic paraplegia 30 ⚠
  • p.Val8Ala Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • p.Val965Ile Multiple submitters spastic paraplegia 30B, autosomal recessive ⚠
  • p.Val974Ile Multiple submitters neuropathy, hereditary sensory, type 2C ⚠
  • c.1037+5G>A Single submitter hereditary spastic paraplegia 30
  • c.1037+5G>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.106+3G>T Single submitter hereditary spastic paraplegia 30
  • c.1180+3G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.1207+5G>A Single submitter
  • c.1208-3C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1208-81C>T Single submitter
  • c.1342-3C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1342-6C>G Single submitter hereditary spastic paraplegia 30
  • c.1421+13G>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1421+3G>A Single submitter hereditary spastic paraplegia 30
  • c.1421+6C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1497+6A>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.1498-5T>C Single submitter
  • c.1578-3C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.1578-5C>A Single submitter hereditary spastic paraplegia 30
  • c.1768+6G>A Single submitter hereditary spastic paraplegia 30
  • c.183+5G>T Single submitter
  • c.1950-4G>T Single submitter Inborn genetic diseases
  • c.2023-3C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.2023-4G>C Single submitter
  • c.2116+6G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.2265+5G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.2444+3G>A Single submitter hereditary spastic paraplegia 30
  • c.2444+6G>T Single submitter hereditary spastic paraplegia 30
  • c.2445-8_2445-3del Single submitter neuropathy, hereditary sensory, type 2C
  • c.2582+5del Single submitter hereditary spastic paraplegia 30
  • c.2583-17T>A Single submitter KIF1A-related disorder
  • c.2977+5G>T Single submitter
  • c.2978-3del Single submitter hereditary spastic paraplegia 30
  • c.3064-3C>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.3202+4G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.3202+6T>C Single submitter hereditary spastic paraplegia 30
  • c.3203-3C>T Single submitter hereditary spastic paraplegia 30
  • c.3203-4G>C Single submitter neuropathy, hereditary sensory, type 2C
  • c.3374+3G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.3466-268G>A Single submitter
  • c.3466-3C>T Single submitter neuropathy, hereditary sensory, type 2C
  • c.3466-4C>G Single submitter neuropathy, hereditary sensory, type 2C
  • c.3584+15T>G Single submitter
  • c.363+5G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.3640+3dup Single submitter hereditary spastic paraplegia 30
  • c.3640+4G>A Single submitter hereditary spastic paraplegia 30
  • c.3816+10_3816+63del Single submitter hereditary spastic paraplegia 30
  • c.3816+3G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.3817-5G>A Single submitter neuropathy, hereditary sensory, type 2C
  • c.3901+379C>T Single submitter
  • c.3901+416G>T Single submitter