Sugi Variant

Sugi Variant/ALS2

ALS2 — 1142 ClinVar variants

All ClinVar germline ALS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 442 flagged for review →

68 Pathogenic · 12 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 55 Conflicting · 94 Benign · 12 Benign/Likely benign · 375 Likely benign · 489 Uncertain significance

Full ALS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 442

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 1

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

Predictors agree, ClinVar conflicts 20

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 275

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 275

Predictors split 146

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

All ALS2 variants

Pathogenic 68

  • c.2580+2T>C Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Arg1461Ter Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Arg913Ter Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Arg921Ter Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Gln1424Ter Multiple submitters juvenile amyotrophic lateral sclerosis
  • p.Leu294fs Multiple submitters
  • p.Leu623fs Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Tyr411Ter Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • c.1113+1del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2417+1G>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2713-2A>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3513-1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3513-2del Single submitter
  • c.3517delG Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3624+1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3703-2A>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4838+1del Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg1510Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg704Ter Single submitter
  • p.Arg741Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg843Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg998Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asn109fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp360_Ser361insTer Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln1002Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln1024Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln154Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln641Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln947Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu304_Leu305insTer Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu476fs Single submitter juvenile primary lateral sclerosis
  • p.Gly1074Asp Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly116Glu Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1195Ter Single submitter juvenile primary lateral sclerosis
  • p.Gly326fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly477fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly49Arg Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly53del Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.His541fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.His952fs Single submitter
  • p.Ile1517fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ile336fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1408Ter Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Leu214Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu551Ter Single submitter
  • p.Lys1206_Met1207insTer Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Lys1277Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Lys1457fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Met903fs Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Ser1267fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Thr185fs Single submitter juvenile primary lateral sclerosis
  • p.Thr512fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Trp1505Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Trp38Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Trp960Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Tyr348Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Tyr92fs Single submitter juvenile primary lateral sclerosis
  • p.Val289fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Val673fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1472_1481delTTTCCCCCAG No assertion criteria infantile-onset ascending hereditary spastic paralysis
  • c.1999-2A>T No assertion criteria infantile-onset ascending hereditary spastic paralysis
  • c.2980-2A>G No assertion criteria juvenile primary lateral sclerosis
  • p.Ala47fs No assertion criteria amyotrophic lateral sclerosis type 2, juvenile
  • p.Asn846fs No assertion criteria infantile-onset ascending hereditary spastic paralysis
  • p.Gln715Ter No assertion criteria infantile-onset ascending hereditary spastic paralysis
  • p.Gly540Glu No assertion criteria juvenile primary lateral sclerosis
  • p.Gly668Ter No assertion criteria amyotrophic lateral sclerosis type 2, juvenile
  • p.Val1574fs No assertion criteria infantile-onset ascending hereditary spastic paralysis

Pathogenic/Likely pathogenic 12

  • c.1640+1G>A Multiple submitters Abnormal central motor function
  • c.3703-2A>G Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • c.4626+1G>A Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Arg1139Ter Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Arg1421Ter Multiple submitters juvenile primary lateral sclerosis
  • p.Arg201Ter Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Gln179Ter Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Glu246fs Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Leu352fs Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Lys1174Ter Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Trp1053Ter Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Val1525fs Multiple submitters infantile-onset ascending hereditary spastic paralysis

Likely pathogenic 37

  • p.Ala573Glu Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Cys157Tyr Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Pro550Leu Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Tyr1017fs Multiple submitters ALS2-related motor neuron disease
  • c.1114-1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1471+1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2581-1G>C Single submitter
  • c.2842-2A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3183-2A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3248+1G>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3248+1G>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-2A>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3348-1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3513-2A>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4004+1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4123-2A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4403+2T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4838+1G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg231Ter Single submitter Abnormal central motor function
  • p.Asp1298fs Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Cys123Tyr Single submitter
  • p.Gln1355fs Single submitter juvenile primary lateral sclerosis
  • p.Glu1173fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu347fs Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu702Ter Single submitter juvenile primary lateral sclerosis
  • p.Gly901fs Single submitter ALS2-related disorder
  • p.Ile441fs Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Leu1054Pro Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu723fs Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Pro1603Leu Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Ser1585fs Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Ser417Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Trp1229Ter Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Tyr637Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu1557Gly No assertion criteria Tip-toe gait
  • p.Leu48Val No assertion criteria amyotrophic lateral sclerosis ⚠

Conflicting classifications of pathogenicity 55

  • c.1640+10A>G Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.1737+7G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-7G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-8C>T Single submitter ALS2-related disorder
  • c.2171-7G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+8C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2979+8T>C Single submitter hereditary spastic paraplegia
  • c.4627-4G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala120Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala861= Single submitter hereditary spastic paraplegia
  • p.Arg1369= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg1611Gln Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg350Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg547= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asn109Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn934= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp543Asn Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gln122= Single submitter hereditary spastic paraplegia
  • p.Gln1633Ter Single submitter Inborn genetic diseases
  • p.Gln869Pro Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1291Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu831_Leu833del Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1069Glu Single submitter ALS2-related disorder ⚠
  • p.Gly1107Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1247= Single submitter ALS2-related disorder
  • p.Gly534Arg Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly611Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly970Val Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ile30Val Single submitter Inborn genetic diseases ⚠
  • p.Leu520Phe Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Lys1105= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Lys1292= Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Lys1655Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys559= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Phe1522= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Pro1016Ala Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro132= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Pro192Leu Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro372Arg Single submitter juvenile primary lateral sclerosis ⚠
  • p.Ser1328Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser1335= Single submitter Inborn genetic diseases
  • p.Thr1327= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Thr1472= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Thr1472Met Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Thr512= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Thr526= Single submitter hereditary spastic paraplegia
  • p.Thr827Ser Single submitter Tip-toe gait ⚠
  • p.Tyr1115= Single submitter Inborn genetic diseases
  • p.Tyr113= Single submitter ALS2-related disorder
  • p.Tyr1398= Single submitter hereditary spastic paraplegia
  • p.Tyr348= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Tyr747= Single submitter hereditary spastic paraplegia
  • p.Tyr847= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Val111Ile Single submitter hereditary spastic paraplegia ⚠
  • p.Val1621Ile Single submitter infantile-onset ascending hereditary spastic paralysis ⚠

Benign 94

Benign/Likely benign 12

  • c.1816-10G>T Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • c.2841+48del Multiple submitters
  • c.2842-20C>T Multiple submitters juvenile primary lateral sclerosis
  • c.3625-16_3625-15del Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • c.4581-7A>G Multiple submitters ALS2-related disorder
  • c.*105A>C Multiple submitters ALS2-related disorder
  • p.Gln1154= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Glu1173Lys Multiple submitters ALS2-related disorder ⚠
  • p.Glu159Lys Multiple submitters juvenile primary lateral sclerosis
  • p.Glu911= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.His1103= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Ile1373Met Multiple submitters ALS2-related disorder

Likely benign 375

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

  • c.1640+154C>G Multiple submitters
  • c.1998+30A>G Multiple submitters
  • c.2170+19T>C Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • c.2580+63G>A Multiple submitters
  • c.2841+136C>T Multiple submitters
  • c.2913-202A>G Multiple submitters
  • c.2913-7G>A Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • c.2979+102C>G Multiple submitters
  • c.2980-18G>A Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • c.3248+50G>A Multiple submitters
  • c.3702+107G>T Multiple submitters
  • c.4004+67A>C Multiple submitters
  • c.4005-127T>C Multiple submitters
  • c.4005-75G>A Multiple submitters
  • c.4581-71C>T Multiple submitters
  • c.4936-120G>T Multiple submitters
  • c.*163A>G Multiple submitters amyotrophic lateral sclerosis type 2, juvenile
  • p.Ala1003= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Ala156= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Ala164= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Ala344= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Arg1302His Multiple submitters amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Cys430= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Gly1188= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Gly158= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.His696= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.His952= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Leu418= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Ser388= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Thr1547= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Tyr1198= Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • c.1113+10C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1113+12A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1113+17A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1113+17A>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1114-15GT[2] Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1114-17A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1114-19T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1472-10T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1472-17G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1472-188T>G Single submitter
  • c.1472-20C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1640+18T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1640+7G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1641-16T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1641-20C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1641-4T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.175+123T>A Single submitter
  • c.175+15G>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.175+18G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.175+239G>A Single submitter
  • c.175+251T>C Single submitter
  • c.176-239C>T Single submitter
  • c.176-7C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.176-8dup Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1815+15T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1815+8T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-14T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-15T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-17T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-18_1816-17del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-18A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1816-19T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1998+11A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1998+12T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1998+14G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1999-171G>C Single submitter
  • c.1999-7G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.21-15T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.21-189T>A Single submitter
  • c.21-208C>T Single submitter
  • c.21-246C>T Single submitter
  • c.21-6T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2170+11A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2170+15C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2171-181C>T Single submitter
  • c.2171-25CAT[3] Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2171-4A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2171-9T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2351+14C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2351+15C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2351+17G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2417+10C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2417+13A>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2417+16C>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2417+17C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2418-14T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2580+208C>T Single submitter
  • c.2581-24del Single submitter
  • c.2712+16T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2712+17G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2712+8A>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2713-13T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2713-18A>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2841+13C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2841+19C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2842-17C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2842-9C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+10dup Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+12C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+15C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+16C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+16C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+20C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+9G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2912+9G>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2913-13G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2913-15T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2913-17C>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2913-8C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2979+13T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2979+19T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2979+20T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2979+7C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2979+8del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2980-13T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2980-19C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2980-7C>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2980-8G>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3183-11A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3183-8C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3248+12G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-13T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-14C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-20T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-293G>C Single submitter
  • c.3249-4G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-7A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-8C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3347+11A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3347+14G>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3347+7T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3347+8T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3348-17A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3348-290A>G Single submitter
  • c.3348-6C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3512+13_3512+15del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3512+19A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3512+233C>G Single submitter
  • c.3512+8A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3513-4G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3624+10A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3624+11T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3624+12A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3624+14_3624+21del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3625-5T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3702+17_3702+20del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3702+20T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3703-135G>A Single submitter
  • c.3703-14C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3703-16C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3703-6A>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3836+10T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3836+12G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3836+14G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3836+18A>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3836+8_3836+11del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3837-15A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3837-7T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4004+11A>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4004+17T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4004+18C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4004+34A>G Single submitter
  • c.4005-311A>G Single submitter
  • c.4122+12T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4123-14C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4123-19T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4280+15C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4280+17C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4280+19A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4281-20T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4403+15del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4403+17G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4403+9A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4404-17A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4404-183A>C Single submitter
  • c.4404-5T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4580+11T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4580+17C>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4580+17C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4581-16A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4581-297G>A Single submitter
  • c.4626+10A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4626+12T>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4626+7T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4627-10T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4627-15C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4627-5T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4688+15G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4689-10T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4689-7G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4838+10T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4838+13T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4838+19del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4839-11C>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4839-4G>T Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4935+10G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4935+226C>T Single submitter
  • c.4936-233G>A Single submitter
  • c.-60-58del Single submitter
  • c.-60-70_-60-69dup Single submitter
  • c.*379T>A Single submitter ALS2-related disorder
  • c.*942A>G Single submitter ALS2-related disorder
  • p.Ala1034= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala112= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala1286= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala1444= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala1532= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala1588= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala1646= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala173= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala46= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala47= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala519= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala576= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala699= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala87= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala922= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg1032= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg1088= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg1615= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg231= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg6= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg842= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asn1091= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asn1320Asp Single submitter ⚠
  • p.Asn135= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asn335= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asn920= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp1068= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp1272= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp1290= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp1298= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp1377= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Asp630= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Cys1110= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Cys78= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln1006= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln1026= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln1633= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln218= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln343= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln590= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln91= Single submitter
  • p.Glu1027= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu1081= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu1299= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu1388= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu230= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu287= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu347= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu472= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu61= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Glu629= Single submitter
  • p.Glu784Lys Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1079= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1162= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1186= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1233= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1400= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1456= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1475= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1618= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1638= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly260= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly364Asp Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly37= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly486= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly532= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly537= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly542= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly668= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly676= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly727= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.His1332= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.His1591= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.His541= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.His563= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ile1089= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ile1575= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ile470= Single submitter
  • p.Ile562= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ile832Leu Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1213= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1237= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1268= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1282= Single submitter
  • p.Leu1408= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1482= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1587= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu1606= Single submitter
  • p.Leu1627= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu220= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu225= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu294= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu352= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu395= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu416= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu48= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Leu482= Single submitter infantile-onset ascending hereditary spastic paralysis

Uncertain significance 489

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

  • c.2352-3A>G Multiple submitters
  • p.Ala105Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala1295Val Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala296Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala333Ser Multiple submitters amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Ala377Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala391Thr Multiple submitters ALS2-related disorder ⚠
  • p.Ala402Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1132Cys Multiple submitters ALS2-related disorder ⚠
  • p.Arg1139Gln Multiple submitters ALS2-related disorder ⚠
  • p.Arg1329Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1330His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1341His Multiple submitters hereditary spastic paraplegia ⚠
  • p.Arg1405Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1461Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1484Gln Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1499Cys Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1653Cys Multiple submitters amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Arg1653His Multiple submitters ALS2-related disorder ⚠
  • p.Arg201Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg285Gly Multiple submitters hereditary spastic paraplegia ⚠
  • p.Arg350Trp Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg619Gly Multiple submitters hereditary spastic paraplegia ⚠
  • p.Arg703Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg843Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asn346Ser Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp595Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys123Arg Multiple submitters juvenile primary lateral sclerosis ⚠
  • p.Cys399Tyr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Cys552Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1216Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1222Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1313Asp Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1449Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu170Lys Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu629Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu76Lys Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu825Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly110Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1111Ser Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly414Asp Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly478Ala Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly883Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly90Glu Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.His1103Asn Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.His1103Tyr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.His271Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His761Arg Multiple submitters hereditary spastic paraplegia ⚠
  • p.His952Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1000Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1220Val Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ile1624Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ile167Val Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ile336Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile562Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ile606Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Leu55Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu779Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu878Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu880Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu959Pro Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Lys1045Met Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Met1075Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1094Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met242Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Phe1249Ser Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro1016Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1016Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1148Ser Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro1266Arg Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro1288Leu Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro132Leu Multiple submitters amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Pro1382Leu Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro1445Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro221Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro337Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Pro384Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro511Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ser1021Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1033Arg Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ser1147Cys Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ser319Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser514Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser654Arg Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ser788Thr Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Thr1219Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1547Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr262Ala Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Thr293Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr327Ala Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Thr428Asn Multiple submitters amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Thr904= Multiple submitters ALS2-related disorder
  • p.Tyr1607Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr847His Multiple submitters ALS2-related motor neuron disease ⚠
  • p.Val1287_Pro1288del Multiple submitters infantile-onset ascending hereditary spastic paralysis
  • p.Val1399Met Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Val345Ile Multiple submitters infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Val468Ala Multiple submitters Inborn genetic diseases ⚠
  • c.1114-7A>G Single submitter
  • c.1471+3A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1737+3A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1738-4A>G Single submitter
  • c.1815+4_1815+15del Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1998+4A>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.1998+6C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.20+9A>G Single submitter ALS2-related disorder
  • c.2171-3T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2352-12T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2580+15A>G Single submitter ALS2-related disorder
  • c.2581-5T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2712+5G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.2979+5G>A Single submitter
  • c.3183-3C>G Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3249-6T>G Single submitter
  • c.3512+6G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3513-7T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3624+3G>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3624+6T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.3702+326A>G Single submitter
  • c.3703-7T>C Single submitter hereditary spastic paraplegia
  • c.3836+3G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4004+6T>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4123-4T>C Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.4280+5G>C Single submitter
  • c.4403+4A>G Single submitter
  • c.4581-3T>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4626+6G>A Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.4936-1G>C Single submitter infantile-onset ascending hereditary spastic paralysis
  • c.-31T>A Single submitter ALS2-related disorder
  • c.-60-2A>G Single submitter
  • c.-99C>T Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*1079A>G Single submitter ALS2-related disorder
  • c.*1093C>T Single submitter ALS2-related disorder
  • c.*1219C>G Single submitter ALS2-related disorder
  • c.*1249G>A Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*1259A>G Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*1328G>T Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*1398C>A Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*1501A>G Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*1533C>T Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*1538C>G Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*15T>G Single submitter ALS2-related disorder
  • c.*302A>G Single submitter ALS2-related disorder
  • c.*426T>A Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • c.*504G>A Single submitter ALS2-related disorder
  • c.*584G>A Single submitter ALS2-related disorder
  • c.*586G>A Single submitter ALS2-related disorder
  • c.*764A>G Single submitter ALS2-related disorder
  • c.*912A>G Single submitter ALS2-related disorder
  • p.Ala1047Thr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala112Thr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala120del Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Ala156Val Single submitter ⚠
  • p.Ala1588Val Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala199Val Single submitter ⚠
  • p.Ala210Ser Single submitter ⚠
  • p.Ala268Thr Single submitter hereditary spastic paraplegia ⚠
  • p.Ala272Val Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala310Val Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala391Ser Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala434Val Single submitter Inborn genetic diseases ⚠
  • p.Ala440Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala440Val Single submitter Inborn genetic diseases ⚠
  • p.Ala517Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala519Val Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala616Val Single submitter Inborn genetic diseases ⚠
  • p.Ala617Val Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala675Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala693Thr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala766Thr Single submitter ⚠
  • p.Ala848Thr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Ala957Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg1032Cys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1032His Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1043His Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1052His Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1077Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg1132His Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1132Ser Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1302Cys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1329Gln Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1330Cys Single submitter ⚠
  • p.Arg1341Cys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1341Leu Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1405His Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1427= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Arg1427Ser Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1461Leu Single submitter ⚠
  • p.Arg1611Pro Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg1611Trp Single submitter hereditary spastic paraplegia ⚠
  • p.Arg1613Trp Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg334Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg34Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg450Trp Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg480Gln Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg501Gln Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg501Trp Single submitter ⚠
  • p.Arg602His Single submitter ALS2-related disorder ⚠
  • p.Arg640Gln Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg704Gln Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg741Gln Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg842Thr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg843Leu Single submitter ⚠
  • p.Arg884Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Arg912His Single submitter hereditary spastic paraplegia ⚠
  • p.Asn1091Tyr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asn1201Thr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asn1241His Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asn1512Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asn380Thr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asn393Ser Single submitter ⚠
  • p.Asn810Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asn834His Single submitter ⚠
  • p.Asn86Asp Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp1005Glu Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp1046Asn Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp1082Gly Single submitter ⚠
  • p.Asp1218Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp1243Val Single submitter Inborn genetic diseases ⚠
  • p.Asp1272Asn Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp1319Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp1366Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp1570His Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp1626Glu Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp284Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp518Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp518Val Single submitter Inborn genetic diseases ⚠
  • p.Asp595Tyr Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Asp59Val Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Asp627Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp678Tyr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Asp807Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp824= Single submitter ALS2-related disorder
  • p.Cys1126Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys1300del Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Cys157Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Cys178Phe Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Cys208Trp Single submitter ⚠
  • p.Cys430Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys874Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys877Tyr Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gln1185Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln122Arg Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gln1409His Single submitter Inborn genetic diseases ⚠
  • p.Gln1514Leu Single submitter ⚠
  • p.Gln154Arg Single submitter ⚠
  • p.Gln1584Leu Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gln1637Arg Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gln1637Ter Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gln218Arg Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gln24Arg Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gln286Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln435Leu Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Gln453His Single submitter hereditary spastic paraplegia ⚠
  • p.Gln817Arg Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Gln91Arg Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1199_Gly1200delinsAsp Single submitter
  • p.Glu1270Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1270Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1299Lys Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Glu12Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1313Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1337Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu1410Gln Single submitter ⚠
  • p.Glu1435Asp Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1435Lys Single submitter ⚠
  • p.Glu1466Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1500Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1620Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu1636Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu359Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu444Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu472Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu536Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu536Lys Single submitter ⚠
  • p.Glu629Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu697Lys Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu784Gly Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Glu967Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly1018Glu Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly1074Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly1083= Single submitter infantile-onset ascending hereditary spastic paralysis
  • p.Gly1195Val Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly1283= Single submitter
  • p.Gly1310= Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Gly1358Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly1384Ser Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly13Arg Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly1456Arg Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Gly177Cys Single submitter amyotrophic lateral sclerosis type 2, juvenile ⚠
  • p.Gly177Ser Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly26Ala Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly39Glu Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly442Ala Single submitter infantile-onset ascending hereditary spastic paralysis ⚠
  • p.Gly442Val Single submitter ALS2-related disorder ⚠
  • p.Gly461Glu Single submitter ALS2-related motor neuron disease ⚠
  • p.Gly49Val Single submitter ⚠
  • p.Gly515= Single submitter amyotrophic lateral sclerosis type 2, juvenile
  • p.Gly540Arg Single submitter ⚠
  • p.Gly542Ser Single submitter infantile-onset ascending hereditary spastic paralysis ⚠