Sugi Variant

Sugi Variant/SETX

SETX — 2214 ClinVar variants

All ClinVar germline SETX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1077 flagged for review →

50 Pathogenic · 17 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 395 Conflicting · 213 Benign · 81 Benign/Likely benign · 479 Likely benign · 923 Uncertain significance

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

⚑ Evidence disagreements 1077

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 298

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 298

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 628

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 628

Predictors split 148

The independent predictors disagree with each other — read with care.

All SETX variants

Pathogenic 50

  • c.6848_6851del Multiple submitters
  • p.Arg111Ter Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1363Ter Multiple submitters Inborn genetic diseases
  • p.Arg1606Ter Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Arg2098Ter Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln2108Ter Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu1976Arg Multiple submitters SETX-related disorder
  • p.Leu389Ser Multiple submitters SETX-related disorder ⚠
  • p.Lys796fs Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ser1618Ter Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr1755fs Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Thr8Met Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.387_388+2del Single submitter amyotrophic lateral sclerosis type 4
  • c.6843-4_6843-1delinsTA Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala1406fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala1941fs Single submitter Inborn genetic diseases
  • p.Ala789fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg2045Ter Single submitter
  • p.Arg996fs Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn1560fs Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn2280fs Single submitter
  • p.Asn2431fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp2207Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Cys1227Ter Single submitter amyotrophic lateral sclerosis type 4
  • p.Cys2384fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1646Ter Single submitter
  • p.Gln1670Ter Single submitter
  • p.Gln2090Ter Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln2141fs Single submitter Inborn genetic diseases
  • p.Glu1088Ter Single submitter
  • p.Glu2072fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu327fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gly1134fs Single submitter Inborn genetic diseases
  • p.Gly240Asp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Gly301fs Single submitter Inborn genetic diseases
  • p.His1096fs Single submitter amyotrophic lateral sclerosis type 4
  • p.Ile1631fs Single submitter amyotrophic lateral sclerosis type 4
  • p.Ile1644fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ile81fs Single submitter
  • p.Leu1981Arg Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu495Pro Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Phe1071fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser1545fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser530fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Val1674fs Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg923_Asp924insTer No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg989fs No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln868Ter No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu343Ter No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Phe1083Leu No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠

Pathogenic/Likely pathogenic 17

  • c.5547_5548+2del Multiple submitters SETX-related disorder
  • p.Arg1778Ter Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg332Trp Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg778Ter Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp1742fs Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp2332fs Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln1695Ter Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1774Ter Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln1864fs Multiple submitters Inborn genetic diseases
  • p.Glu1770fs Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.His2243fs Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu1750fs Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Phe1756Ser Multiple submitters ⚠
  • p.Phe2300fs Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ser2142fs Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Val2374fs Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu1544fs No assertion criteria

Likely pathogenic 56

  • c.6843-3_6843-1del Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr3Ile Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Val2013Gly Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.1011-2A>G Single submitter amyotrophic lateral sclerosis type 4
  • c.1098+1G>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5374+1del Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5781+1dup Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6208+2dup Single submitter amyotrophic lateral sclerosis type 4
  • c.6654+1G>A Single submitter
  • c.6842+1G>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.7100+2T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.7288-2A>G Single submitter
  • p.Ala1892fs Single submitter
  • p.Ala2285fs Single submitter
  • p.Arg2136Cys Single submitter ⚠
  • p.Arg2136His Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg2232Cys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg2287Ter Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn1771fs Single submitter SETX-related disorder
  • p.Asn1870_Leu1871insTer Single submitter
  • p.Asp1918fs Single submitter
  • p.Asp2207Tyr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Cys2006Tyr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1695fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1802fs Single submitter
  • p.Gln2097Ter Single submitter
  • p.Glu1065Ter Single submitter
  • p.Glu1856Ter Single submitter
  • p.His1738fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ile2130fs Single submitter
  • p.Ile705_Lys706insTer Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu115del Single submitter Inborn genetic diseases
  • p.Leu1691fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu2043Ter Single submitter SETX-related disorder
  • p.Leu389del Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu389Phe Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Phe1073fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Phe2499fs Single submitter SETX-related disorder
  • p.Pro1591_Leu1592insTer Single submitter
  • p.Ser1848Ter Single submitter
  • p.Ser618_Tyr619insTer Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • p.Ser719fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser743Ter Single submitter
  • p.Thr2523fs Single submitter SETX-related disorder
  • p.Trp370Ter Single submitter amyotrophic lateral sclerosis type 4
  • p.Tyr1710Ter Single submitter
  • p.Tyr1836Ter Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Tyr2348fs Single submitter
  • p.Val1759fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Val199_Ile200insTer Single submitter SETX-related disorder
  • p.Val715fs Single submitter
  • p.Asn1768fs No assertion criteria SETX-related disorder
  • p.Gly2036Arg No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Phe1748fs No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Phe293fs No assertion criteria amyotrophic lateral sclerosis type 4
  • p.Val2371Ala No assertion criteria amyotrophic lateral sclerosis type 4 ⚠

Conflicting classifications of pathogenicity 395

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

  • c.1010+14A>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.1099-7A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5549-5G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.5949+5G>A Single submitter hereditary spastic paraplegia
  • c.6107-7T>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6396+8G>C Single submitter amyotrophic lateral sclerosis type 4
  • c.6843-4A>T Single submitter amyotrophic lateral sclerosis type 4
  • c.7100+7C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.7100+9T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.719-4A>G Single submitter amyotrophic lateral sclerosis type 4
  • c.7199+8A>G Single submitter amyotrophic lateral sclerosis
  • c.7200-3T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.7287+9C>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.839-6T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.-70T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.*1803G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.*2190A>G Single submitter amyotrophic lateral sclerosis type 4
  • c.*254C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.*266A>G Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala1115= Single submitter Inborn genetic diseases
  • p.Ala12= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala12Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala136Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1478Glu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ala1478Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1479Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1645Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ala1760Thr Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala1760Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ala1800Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1929Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ala1947Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala2079Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala2480Val Single submitter Inborn genetic diseases ⚠
  • p.Ala2506Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala2591Thr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ala2592Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala2596Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ala289Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala289Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala430Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ala617Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala640Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala701Thr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ala754Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1010Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1010His Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg1145Trp Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1164Gln Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1203Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1214Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1275Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg128Cys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg1294Cys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1294His Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1302Trp Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1323Gln Single submitter SETX-related disorder ⚠
  • p.Arg1363Gln Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1410Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg1473Cys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1538Trp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg168Gln Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1846Cys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1851His Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg1979His Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg20= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg20Cys Single submitter amyotrophic lateral sclerosis ⚠
  • p.Arg2105Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg2309Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg2380Gln Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg2444Cys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg2456Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg2485Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg2540Ter Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg2605Gln Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg2632Met Single submitter Inborn genetic diseases ⚠
  • p.Arg2658Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg299Cys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg502Gln Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg502Trp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg557Gln Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg68Cys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Arg745Cys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Arg800Met Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn1003Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn1004Asp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn1054Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn1100Thr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn1116Ser Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn1196Ser Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn1409Tyr Single submitter SETX-related disorder ⚠
  • p.Asn144Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn1657Ser Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn1765Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn1768Tyr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn1935Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asn2010Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asn2454Thr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn2656Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn325Asp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asn333Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asn620Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn668Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asn669Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asn882Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asn883Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asn904Ser Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asp1022Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1023_Asp1024del Single submitter Inborn genetic diseases
  • p.Asp1024del Single submitter Inborn genetic diseases
  • p.Asp1077Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1099Asn Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp1197Asn Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp1197Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp1202Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asp1248Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp1494Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp1507Ala Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp1534Asn Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp1534His Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp1809Glu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp182= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp182Glu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp1991= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp2358Glu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp2358Gly Single submitter SETX-related disorder
  • p.Asp2360Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp2364= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp2496Glu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asp2624Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp265Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asp2660Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Asp448Ala Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp448Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp749Asn Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp806Asn Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp979Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys1368Phe Single submitter SETX-related disorder ⚠
  • p.Cys5del Single submitter amyotrophic lateral sclerosis type 4
  • p.Cys726Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Cys997Tyr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gln1094Arg Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gln1104Glu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Gln1185= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln1276Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln1349Glu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gln1351= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1561His Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gln1639Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln1670Arg Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gln1761= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1774His Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Gln1864Pro Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gln2000Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln2619Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln31= Single submitter SETX-related disorder
  • p.Gln552Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln585Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu1139Asp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Glu1482Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu1504Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Glu1757= Single submitter hereditary spastic paraplegia
  • p.Glu1835Lys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Glu191Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu2574Lys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Glu2614Lys Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Glu362Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu623Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu699Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu756Val Single submitter Inborn genetic diseases ⚠
  • p.Glu813Asp Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gly1006Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Gly1137Asp Single submitter hereditary spastic paraplegia ⚠
  • p.Gly2483Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly82Glu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Gly834= Single submitter Inborn genetic diseases
  • p.His126Arg Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.His1379Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.His1428Arg Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.His162Tyr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.His1660Arg Single submitter Inborn genetic diseases ⚠
  • p.His1660Tyr Single submitter Inborn genetic diseases ⚠
  • p.His1834Arg Single submitter Inborn genetic diseases ⚠
  • p.His1951Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.His2533Tyr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.His58Tyr Single submitter Inborn genetic diseases
  • p.His682Arg Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.His799Tyr Single submitter Inborn genetic diseases ⚠
  • p.His963Tyr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile1014Val Single submitter Inborn genetic diseases
  • p.Ile1039Met Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ile1039Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile1114Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile1201Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile1424Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1457Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile1475Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile1475Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile15Phe Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ile15Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ile1644Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile1942Thr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ile200Thr Single submitter Inborn genetic diseases
  • p.Ile200Val Single submitter Inborn genetic diseases ⚠
  • p.Ile2020Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile2041Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile2145= Single submitter hereditary spastic paraplegia
  • p.Ile2150Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Ile2399Val Single submitter Inborn genetic diseases ⚠
  • p.Ile2412Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile2547Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile331Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile591Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile70Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile809Met Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile809Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Ile81Val Single submitter Inborn genetic diseases ⚠
  • p.Ile89Met Single submitter Inborn genetic diseases ⚠
  • p.Ile974Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu1033Pro Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu115Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu1405Phe Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Leu158Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1610Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu1691Ile Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu1977Phe Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu2094= Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu2155Trp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Leu216Pro Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu223Ile Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu2277= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu2469Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu2473Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu409= Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu564Val Single submitter Inborn genetic diseases ⚠
  • p.Leu584Val Single submitter Inborn genetic diseases
  • p.Leu64= Single submitter Inborn genetic diseases
  • p.Leu804Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu815Phe Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Leu896Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu916Phe Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys1063Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys1272Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys1340Asn Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys1341del Single submitter Inborn genetic diseases
  • p.Lys1374Glu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys1425Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys1636Glu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys180= Single submitter amyotrophic lateral sclerosis type 4
  • p.Lys2029Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys218Asn Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys220Gln Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys2335Asn Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys2494Arg Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys262Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys2661Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys339Gln Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys473Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys49Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys556Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys797Arg Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Lys827Glu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys992Arg Single submitter Spastic paraplegia ⚠
  • p.Lys992Gln Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys995Asn Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Met1169Val Single submitter Inborn genetic diseases ⚠
  • p.Met1506Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Met1948Val Single submitter Inborn genetic diseases ⚠
  • p.Met2069Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Met274Val Single submitter SETX-related disorder ⚠
  • p.Met419Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Met627Thr Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Met650Val Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Met917Thr Single submitter SETX-related disorder ⚠
  • p.Phe2363= Single submitter amyotrophic lateral sclerosis type 4
  • p.Phe2554Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe2554Leu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Phe2638= Single submitter amyotrophic lateral sclerosis type 4
  • p.Phe458Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe597Leu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Phe765Leu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Phe823Leu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Pro1061Ala Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Pro1270Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1356Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro1418Ala Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Pro1431Ala Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Pro1464Ser Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Pro1587Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro1622Leu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Pro1640Leu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Pro1642Thr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Pro1661Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro1664Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1687Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro1815Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro1953Leu Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Pro2008= Single submitter amyotrophic lateral sclerosis type 4
  • p.Pro2368Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Pro2570Leu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠

Benign 213

  • c.1099-142A>G Multiple submitters
  • c.1099-73T>C Multiple submitters
  • c.388+51C>T Multiple submitters
  • c.498+30T>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5274+46A>T Multiple submitters
  • c.5549-59C>A Multiple submitters
  • c.5949+111A>G Multiple submitters
  • c.6107-69T>G Multiple submitters
  • c.6396+80A>G Multiple submitters
  • c.6546+108C>G Multiple submitters
  • c.6546+321T>C Multiple submitters
  • c.6546+32T>A Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6654+152T>A Multiple submitters
  • c.6655-24G>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6655-29A>G Multiple submitters
  • c.6936-100C>A Multiple submitters
  • c.6936-27T>G Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.7100+182T>G Multiple submitters
  • c.7100+27A>G Multiple submitters amyotrophic lateral sclerosis type 4
  • c.7199+104T>C Multiple submitters
  • c.7199+60C>T Multiple submitters
  • c.7288-60A>G Multiple submitters
  • c.*1365G>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*1368G>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*2262A>G Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*431_*432del Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*562C>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*626C>T Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Asp1192Glu Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gly1252Arg Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ile1386Val Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Phe1152Cys Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Pro1061Leu Multiple submitters hereditary spastic paraplegia
  • p.Ser2612Gly Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Tyr359= Multiple submitters amyotrophic lateral sclerosis type 4
  • c.1098+208C>T Single submitter
  • c.178-209T>C Single submitter
  • c.389-142C>A Single submitter
  • c.389-157T>C Single submitter
  • c.389-243C>T Single submitter
  • c.498+268A>G Single submitter
  • c.5275-14del Single submitter amyotrophic lateral sclerosis type 4
  • c.5375-297_5375-286del Single submitter
  • c.5549-172C>T Single submitter
  • c.5549-193A>G Single submitter
  • c.5549-250G>C Single submitter
  • c.5782-129_5782-125del Single submitter
  • c.5782-224G>C Single submitter
  • c.5949+220C>T Single submitter
  • c.5949+253C>T Single submitter
  • c.6106+258A>G Single submitter
  • c.6209-19dup Single submitter amyotrophic lateral sclerosis type 4
  • c.6324+195G>A Single submitter
  • c.6324+53dup Single submitter
  • c.6325-5dup Single submitter amyotrophic lateral sclerosis type 4
  • c.6396+221dup Single submitter
  • c.6396+241del Single submitter
  • c.6396+43del Single submitter
  • c.6546+92dup Single submitter
  • c.6547-164G>A Single submitter
  • c.6547-287G>T Single submitter
  • c.6654+215A>G Single submitter
  • c.6655-237T>C Single submitter
  • c.6655-309A>G Single submitter
  • c.6842+11dup Single submitter amyotrophic lateral sclerosis type 4
  • c.6842+221A>G Single submitter
  • c.6842+252_6842+254del Single submitter
  • c.6842+302C>T Single submitter
  • c.6936-315C>T Single submitter
  • c.7101-92_7101-91dup Single submitter
  • c.718+151T>G Single submitter
  • c.718+72_718+73del Single submitter
  • c.719-210T>G Single submitter
  • c.719-315_719-314dup Single submitter
  • c.719-315dup Single submitter
  • c.7199+23_7199+48dup Single submitter
  • c.7199+255G>A Single submitter
  • c.7288-197dup Single submitter
  • c.7288-240del Single submitter
  • c.7288-259_7288-258dup Single submitter
  • c.7288-259dup Single submitter
  • c.838+333C>T Single submitter
  • c.839-144T>C Single submitter
  • c.839-239dup Single submitter
  • c.-8+134dup Single submitter
  • c.-8+143del Single submitter
  • c.-8+8dup Single submitter
  • c.*1052T>A Single submitter amyotrophic lateral sclerosis type 4
  • c.*1148T>G Single submitter amyotrophic lateral sclerosis type 4
  • c.*1224G>C Single submitter amyotrophic lateral sclerosis type 4
  • c.*1288T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.*1370G>C Single submitter amyotrophic lateral sclerosis type 4
  • c.*430dup Single submitter
  • c.*548A>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.*561A>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.*717T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.*849G>T Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala1588Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala1588Thr Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala1947Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala22Thr Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala2596Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala322Thr Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala969= Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1143Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1211His Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1393Gly Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1580Cys Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1769= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1778Gln Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1899Pro Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1932= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1979Pro Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg2605Trp Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg299His Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg710Gly Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg996= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn1100Ser Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn1119Asp Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn1254Thr Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn1870Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn2393= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn762Tyr Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn840= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn861Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp1018Gly Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp1494Tyr Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp2226Asn Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp2226Glu Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp2364Asn Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp769Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp828Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Cys1227Phe Single submitter amyotrophic lateral sclerosis type 4
  • p.Cys726Tyr Single submitter amyotrophic lateral sclerosis type 4
  • p.Cys788Trp Single submitter amyotrophic lateral sclerosis type 4 ⚠
  • p.Gln1309= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1639Arg Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln1670Lys Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln31Arg Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln31His Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln484= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu1492Asp Single submitter amyotrophic lateral sclerosis type 4
  • p.Glu622Lys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gly1671Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly1853Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gly666Arg Single submitter amyotrophic lateral sclerosis type 4
  • p.His1738= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.His2510Tyr Single submitter amyotrophic lateral sclerosis type 4
  • p.Ile101Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Ile1607Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Ile2518Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ile270Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Ile595Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Ile674Val Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ile707Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu1111Phe Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu1365Phe Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu1643Phe Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu2016= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu2046= Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu2057= Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu223Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu538= Single submitter amyotrophic lateral sclerosis type 4
  • p.Leu572Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Lys1325Asn Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Lys1559Glu Single submitter amyotrophic lateral sclerosis type 4
  • p.Lys1822Glu Single submitter amyotrophic lateral sclerosis type 4
  • p.Lys2019= Single submitter amyotrophic lateral sclerosis type 4
  • p.Met228Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Met2324Ile Single submitter amyotrophic lateral sclerosis type 4
  • p.Met517Arg Single submitter amyotrophic lateral sclerosis type 4
  • p.Met517Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Met526Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Phe159Leu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Phe2638Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Pro1173Ala Single submitter amyotrophic lateral sclerosis type 4
  • p.Pro1331Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Pro1664= Single submitter amyotrophic lateral sclerosis type 4
  • p.Pro2213= Single submitter amyotrophic lateral sclerosis type 4
  • p.Pro2293= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser1087Phe Single submitter amyotrophic lateral sclerosis type 4
  • p.Ser1257Leu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser1378Ala Single submitter amyotrophic lateral sclerosis type 4
  • p.Ser1408Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser1459= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser1633= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ser2503Cys Single submitter amyotrophic lateral sclerosis type 4
  • p.Ser2562= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ser391= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ser512Cys Single submitter amyotrophic lateral sclerosis type 4
  • p.Ser846Gly Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr1142Ala Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr1528Ala Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr1547= Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr1616= Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr1700Ile Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr1923Ala Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr1923Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr2193Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr2511Ile Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr2572= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr644= Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr663Ile Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr780Ala Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr975Met Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Trp2556Arg Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Tyr1858Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Tyr824Cys Single submitter amyotrophic lateral sclerosis type 4
  • p.Val1013Ile Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Val2593Ala Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Val656Ile Single submitter amyotrophic lateral sclerosis type 4
  • p.Val805= Single submitter amyotrophic lateral sclerosis type 4
  • p.Thr2478Pro No assertion criteria

Benign/Likely benign 81

  • c.389-9del Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.498+14T>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.498+20G>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5275-43T>C Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5374+16C>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5375-18CTT[2] Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5548+19A>G Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5781+10G>A Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5781+12dup Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5781+9T>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6106+14G>A Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6843-16dup Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6843-5del Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6843-6_6843-5dup Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6935+8T>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6936-11A>G Multiple submitters amyotrophic lateral sclerosis type 4
  • c.718+14C>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.7200-10dup Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.-124C>T Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.*1700G>T Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.*2506T>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*319C>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*351G>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.*475A>C Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala1112= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala1782= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ala2635= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala660Gly Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1364Gly Multiple submitters Inborn genetic diseases
  • p.Arg1538Gln Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1845= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1904= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg20His Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg329Gln Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg745His Multiple submitters Inborn genetic diseases
  • p.Asn1668Ser Multiple submitters Inborn genetic diseases
  • p.Asn1689= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn603Asp Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp1024dup Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp1918= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Asp1937= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Asp2372Asn Multiple submitters amyotrophic lateral sclerosis type 4 ⚠
  • p.Asp994Gly Multiple submitters Inborn genetic diseases
  • p.Cys1554Gly Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ⚠
  • p.Gln653Lys Multiple submitters hereditary spastic paraplegia
  • p.Gly2036= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gly2169= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gly2367= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gly2606= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gly739Glu Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.His1049= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.His2457= Multiple submitters Inborn genetic diseases
  • p.His2581Tyr Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ile2587Val Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ile705Leu Multiple submitters Inborn genetic diseases
  • p.Leu1555Val Multiple submitters Inborn genetic diseases
  • p.Leu239= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu2664Pro Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Lys1035Glu Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Lys1190Glu Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Lys1221Asn Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Lys1559= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Lys801Glu Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Phe565Leu Multiple submitters amyotrophic lateral sclerosis type 4 ⚠
  • p.Pro1331Leu Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Pro1585= Multiple submitters Inborn genetic diseases
  • p.Pro601= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser1655= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser2648= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ser985= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr1217= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Thr1402Ser Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Thr1855Ala Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr630= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Val1458= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Val1702Ile Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Val489= Multiple submitters Inborn genetic diseases
  • p.Val656= Multiple submitters Inborn genetic diseases
  • c.*168C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.*2232T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.*905A>G Single submitter amyotrophic lateral sclerosis type 4

Likely benign 479

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

  • c.1010+4_1010+7dup Multiple submitters amyotrophic lateral sclerosis type 4
  • c.178-19C>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.178-66G>A Multiple submitters
  • c.388+69A>C Multiple submitters
  • c.389-16A>G Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5274+14T>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5375-9G>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.5782-6A>G Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5950-14G>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6208+17G>A Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6546+10C>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6546+11G>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6546+17C>G Multiple submitters
  • c.6546+44G>A Multiple submitters
  • c.6547-11A>G Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6547-15del Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6842+15T>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6842+98G>A Multiple submitters
  • c.6843-5T>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.6936-51G>A Multiple submitters
  • c.6936-8T>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.7101-20T>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.718+11T>A Multiple submitters amyotrophic lateral sclerosis type 4
  • c.718+16A>C Multiple submitters amyotrophic lateral sclerosis type 4
  • c.7287+207C>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.7288-14C>T Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.7288-19C>T Multiple submitters amyotrophic lateral sclerosis type 4
  • c.-114-108C>T Multiple submitters
  • c.-7-87G>A Multiple submitters
  • p.Ala1800= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ala33= Multiple submitters Inborn genetic diseases
  • p.Ala499= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Arg1175= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Asn1054_Ser1055del Multiple submitters Inborn genetic diseases
  • p.Asn130= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn1872= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Asp1098= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Asp1099= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Asp2583= Multiple submitters Inborn genetic diseases
  • p.Asp2624= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp91= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Cys133= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln1441= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln1887= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln1938= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln2257= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln446= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gln986= Multiple submitters Inborn genetic diseases
  • p.Glu1462= Multiple submitters Inborn genetic diseases
  • p.Glu1521= Multiple submitters Inborn genetic diseases
  • p.Glu1992= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu2627= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Glu2642= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Gly830= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ile1201= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ile2151= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu1030= Multiple submitters Inborn genetic diseases
  • p.Leu1070= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu132= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu1620= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu1659= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu2162= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu2252= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu2664= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Leu521= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Leu542= Multiple submitters Inborn genetic diseases
  • p.Lys1411= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Lys1889= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Lys78= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Pro1270= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Pro1271= Multiple submitters Inborn genetic diseases
  • p.Pro1622= Multiple submitters Inborn genetic diseases
  • p.Pro2491= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Pro2530= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Pro2575= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Pro26= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Pro2625= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Pro342= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser1569= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ser2117= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ser269= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Ser910= Multiple submitters Inborn genetic diseases
  • p.Ser985Leu Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Thr1069= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr1371= Multiple submitters spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Thr1967= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Thr8= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Thr975= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Tyr1297Phe Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Tyr1710= Multiple submitters amyotrophic lateral sclerosis type 4
  • p.Val2579= Multiple submitters
  • c.1010+13A>G Single submitter
  • c.1010+20G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.1098+17_1098+19dup Single submitter amyotrophic lateral sclerosis type 4
  • c.1099-12C>A Single submitter amyotrophic lateral sclerosis type 4
  • c.1099-13del Single submitter amyotrophic lateral sclerosis type 4
  • c.1099-17C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.1099-20C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.177+125del Single submitter
  • c.177+18G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.178-18C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.178-29C>T Single submitter
  • c.388+12G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.388+16G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.388+19C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.388+19C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.388+251G>T Single submitter
  • c.388+266C>T Single submitter
  • c.389-158A>G Single submitter
  • c.389-15T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.389-20A>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.389-347G>A Single submitter
  • c.389-7T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.389-8_389-6del Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.498+10A>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.498+10A>G Single submitter amyotrophic lateral sclerosis type 4
  • c.498+194C>G Single submitter
  • c.498+8dup Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.499-10C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.499-13_499-8dup Single submitter amyotrophic lateral sclerosis type 4
  • c.499-18_499-15del Single submitter amyotrophic lateral sclerosis type 4
  • c.499-8G>T Single submitter amyotrophic lateral sclerosis type 4
  • c.499-9T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5274+8T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.5275-291G>A Single submitter
  • c.5374+12C>A Single submitter
  • c.5374+20A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5375-20G>T Single submitter amyotrophic lateral sclerosis type 4
  • c.5375-224A>G Single submitter
  • c.5375-307dup Single submitter
  • c.5375-9G>C Single submitter amyotrophic lateral sclerosis type 4
  • c.5548+17G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.5549-6T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.5781+7G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.5949+13G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.5949+13G>T Single submitter amyotrophic lateral sclerosis type 4
  • c.5949+18C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5950-11G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.5950-20G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.5950-48C>A Single submitter
  • c.5950-4G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.5950-5T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.6106+13T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.6106+171_6106+182del Single submitter
  • c.6106+8dup Single submitter amyotrophic lateral sclerosis type 4
  • c.6107-19C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6107-5A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6208+17G>T Single submitter amyotrophic lateral sclerosis type 4
  • c.6209-18_6209-15del Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6209-7_6209-6insG Single submitter amyotrophic lateral sclerosis type 4
  • c.6325-195G>A Single submitter
  • c.6325-20A>G Single submitter amyotrophic lateral sclerosis type 4
  • c.6325-211_6325-208del Single submitter
  • c.6325-304C>T Single submitter
  • c.6396+16G>A Single submitter amyotrophic lateral sclerosis type 4
  • c.6396+199G>A Single submitter
  • c.6396+221_6396+222dup Single submitter
  • c.6397-17A>C Single submitter amyotrophic lateral sclerosis type 4
  • c.6397-20T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6397-5C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6546+104G>A Single submitter
  • c.6546+18C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6547-27T>C Single submitter
  • c.6654+12A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6654+9_6654+11del Single submitter amyotrophic lateral sclerosis type 4
  • c.6842+11C>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6842+15T>C Single submitter
  • c.6842+19T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.6842+7T>A Single submitter amyotrophic lateral sclerosis type 4
  • c.6843-18_6843-17del Single submitter amyotrophic lateral sclerosis type 4
  • c.6843-6_6843-5del Single submitter
  • c.6843-6T>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.6935+47A>T Single submitter
  • c.6935+51del Single submitter
  • c.6936-110A>G Single submitter
  • c.7100+14A>G Single submitter
  • c.7100+19T>C Single submitter amyotrophic lateral sclerosis type 4
  • c.7100+233T>C Single submitter
  • c.7101-245A>G Single submitter
  • c.718+113G>A Single submitter
  • c.718+13C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.718+16A>G Single submitter amyotrophic lateral sclerosis type 4
  • c.718+18A>C Single submitter amyotrophic lateral sclerosis type 4
  • c.718+18A>G Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.719-16C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.719-17dup Single submitter amyotrophic lateral sclerosis type 4
  • c.719-17T>G Single submitter amyotrophic lateral sclerosis type 4
  • c.719-18C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.719-40T>G Single submitter
  • c.7199+14_7199+16del Single submitter amyotrophic lateral sclerosis type 4
  • c.7199+17G>A Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.7199+17G>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.7199+9C>G Single submitter amyotrophic lateral sclerosis type 4
  • c.7288-12C>T Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.7288-239_7288-238del Single submitter
  • c.7288-239C>A Single submitter
  • c.7288-259_7288-256dup Single submitter
  • c.7288-259_7288-257dup Single submitter
  • c.7288-302C>T Single submitter
  • c.838+10T>G Single submitter amyotrophic lateral sclerosis type 4
  • c.838+233C>T Single submitter
  • c.839-12A>C Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • c.839-14C>T Single submitter amyotrophic lateral sclerosis type 4
  • c.839-20A>G Single submitter amyotrophic lateral sclerosis type 4
  • c.839-225del Single submitter
  • c.-114-30C>T Single submitter
  • c.-7-298A>G Single submitter
  • c.-7-99A>C Single submitter
  • c.-8+135C>T Single submitter
  • c.-8+161G>A Single submitter
  • c.*200T>G Single submitter
  • p.Ala1436Val Single submitter
  • p.Ala1645= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala1929= Single submitter
  • p.Ala1945= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala2007= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala252= Single submitter
  • p.Ala289= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala45= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala488= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala493= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala611= Single submitter amyotrophic lateral sclerosis type 4
  • p.Ala611Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala640Asp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Ala773Pro Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1275= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg168Trp Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg176= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg1846= Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg1899Trp Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg2308Gly Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg2309Trp Single submitter amyotrophic lateral sclerosis type 4
  • p.Arg567Lys Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Arg632Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn1189= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn1454Ser Single submitter Inborn genetic diseases
  • p.Asn1560= Single submitter
  • p.Asn1654Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn1657= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn1876Ser Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn2053= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn264= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn321= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn381= Single submitter
  • p.Asn603Ser Single submitter Inborn genetic diseases
  • p.Asn662= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn730= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asn840Ser Single submitter amyotrophic lateral sclerosis type 4
  • p.Asn882= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp1172Gly Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp1202= Single submitter
  • p.Asp1367His Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp1385= Single submitter
  • p.Asp1490= Single submitter
  • p.Asp1699= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp2092= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp2263= Single submitter
  • p.Asp420= Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp654Glu Single submitter Inborn genetic diseases
  • p.Asp769= Single submitter
  • p.Asp806= Single submitter
  • p.Asp812Gly Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Asp851Val Single submitter amyotrophic lateral sclerosis type 4
  • p.Asp955= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Cys1442Tyr Single submitter amyotrophic lateral sclerosis type 4
  • p.Cys1554= Single submitter
  • p.Cys2234Tyr Single submitter Inborn genetic diseases
  • p.Gln1220= Single submitter
  • p.Gln1351Glu Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln1500= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln1901= Single submitter
  • p.Gln2378= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gln2588= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln2619= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln532= Single submitter
  • p.Gln575= Single submitter
  • p.Gln868= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gln988= Single submitter amyotrophic lateral sclerosis type 4
  • p.Glu1150= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu1279= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu1403= Single submitter
  • p.Glu141= Single submitter
  • p.Glu1835= Single submitter amyotrophic lateral sclerosis type 4
  • p.Glu1873Gln Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu2085= Single submitter
  • p.Glu2147= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Glu2147Gln Single submitter amyotrophic lateral sclerosis type 4
  • p.Glu2628Gly Single submitter Inborn genetic diseases
  • p.Glu53= Single submitter amyotrophic lateral sclerosis type 4
  • p.Glu888= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gly1006= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly11= Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • p.Gly1314= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly1671Asp Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly1720= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly1988= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly2172= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly2498= Single submitter amyotrophic lateral sclerosis type 4
  • p.Gly2573= Single submitter
  • p.Gly2647= Single submitter amyotrophic lateral sclerosis type 4

Uncertain significance 923

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