SPG11 — 3499 ClinVar variants

All ClinVar germline SPG11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1286 flagged for review →

332 Pathogenic · 78 Pathogenic/Likely pathogenic · 135 Likely pathogenic · 165 Conflicting · 58 Benign · 27 Benign/Likely benign · 1267 Likely benign · 1437 Uncertain significance

Full SPG11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1286

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 4

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

SPG11 p.Arg815Lys Pathogenic/Likely pathogenic Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg945Gly Pathogenic/Likely pathogenic Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Ala1696Gly Likely pathogenic Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile870Val Pathogenic Single submitter
hereditary spastic paraplegia

Predictors agree, ClinVar conflicts 63

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

SPG11 p.Ala106Thr Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Ala11Pro Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ala2151Gly Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Ala59Val Conflicting Single submitter
hereditary spastic paraplegia
SPG11 p.Ala854Thr Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Arg1351Lys Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Arg1772His Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Arg1824Gln Conflicting Single submitter
amyotrophic lateral sclerosis type 5
SPG11 p.Arg2021Gln Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Arg2093His Conflicting Single submitter
amyotrophic lateral sclerosis type 5
SPG11 p.Arg2137Gln Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Arg2211His Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Arg2293Trp Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Asn1497Ser Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asn2075Ser Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Asn557Ser Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp1186Glu Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Asp126Gly Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Asp1421Asn Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp146Gly Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp2253Glu Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Asp566Glu Conflicting Single submitter
amyotrophic lateral sclerosis
SPG11 p.Cys1107Ser Conflicting Single submitter
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Cys462Arg Conflicting Single submitter
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Gln2387His Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Gln478Arg Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu2417Lys Conflicting Single submitter
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Glu4Lys Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu689Gly Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu958Asp Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly1262Val Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly1479Asp Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Gly6Arg Conflicting Single submitter
Inborn genetic diseases
SPG11 p.His1671Tyr Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile1146Val Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile1250Thr Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile391Val Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Leu2095Ser Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Leu2300Arg Conflicting Single submitter
amyotrophic lateral sclerosis type 5
SPG11 p.Leu327Val Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Leu452Phe Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Leu520Phe Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Lys1013Glu Conflicting Single submitter
amyotrophic lateral sclerosis
SPG11 p.Lys1273Arg Conflicting Single submitter
hereditary spastic paraplegia
SPG11 p.Lys2419Arg Conflicting Single submitter
hereditary spastic paraplegia
SPG11 p.Lys255Glu Conflicting Single submitter
amyotrophic lateral sclerosis type 5
SPG11 p.Lys876Glu Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Pro1208Leu Conflicting Single submitter
SPG11 p.Pro194Leu Conflicting Single submitter
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Pro424Thr Conflicting Single submitter
hereditary spastic paraplegia
SPG11 p.Pro601Thr Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Ser1142Cys Conflicting Single submitter
SPG11-related disorder
SPG11 p.Ser132Asn Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Ser164Leu Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Ser2065Pro Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Ser2153Ile Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ser374Cys Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ser592Leu Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Thr128Ala Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Thr1311Ile Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Thr1500Ala Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Tyr1990Cys Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Tyr886His Conflicting Single submitter
hereditary spastic paraplegia

Predictors lean, ClinVar uncertain 1006

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 1006

SPG11 p.Ala1059Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala10Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala10Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala11Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala1237Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala1298Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala1305Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPG11 p.Ala1406Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala1586Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala1687Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala1909Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala1918Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala2142Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Ala21Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala239Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala2442Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ala593Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala854Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Ala8Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg1196Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg1196His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Arg1805Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg1805His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg1821Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg1884Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg1884His Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg1884Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg1899Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg1899Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPG11 p.Arg1992Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Arg2034Gln Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2059Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg2093Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg2161Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg2209His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2211Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2229Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg2240Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2240His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Arg2286Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Arg2293Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Arg2318Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg2318His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Arg2330Gln Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2330Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg24Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg336Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Arg44Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPG11 p.Arg540His Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg77His Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg815Gly Uncertain significance Multiple submitters
SPG11 p.Arg890His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg93His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg966Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg966His Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn110Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn110Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn1285Asp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asn1382Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn161Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn1657Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Asn1702Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Asn1737Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn1879His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asn1989Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asn2075Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asn2310His Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn2425Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn278Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Asn324His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asn376Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn397Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn397Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn620Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn767Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asn979Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp144Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp1600Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp1947Glu Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asp2010Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp2015Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asp2102Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asp2342Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asp269Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asp317Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asp390Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp663Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp731Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp837His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asp923Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp973His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Cys1283Tyr Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Cys1559Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Cys1866Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Cys190Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Cys1914Phe Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Cys2006Tyr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Cys2210Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Cys246Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Cys959Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Gln1042Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln1133His Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gln1232Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gln1330Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln145Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln1601Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln395Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln461His Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln50His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Gln716Lys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gln845Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln904Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gln906Arg Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Glu112Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu1295Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu1308Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu1443Lys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu1580Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu1628Gln Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu1867Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu1874Asp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu2060Asp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Glu2154Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu2154Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu2236Gln Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu36Lys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu426Lys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu444Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu534Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu5Asp Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPG11 p.Glu5Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu5Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu703Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu743Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Glu774Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gly1479Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gly15Asp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gly1830Asp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gly2005Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Gly2110Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gly2317Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Gly2434Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gly312Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Gly375Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gly536Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gly6Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Gly76Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gly76Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gly968Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.His1658Tyr Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 213

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 213

SPG11 p.Ala1366Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala1474Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala1693Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala2238Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala695Thr Benign/Likely benign Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Arg1207Gln Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg1207Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg1896Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Arg2021Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2031Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Arg2031Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Arg2059Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2168Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg2286Pro Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg540Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Arg769Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Arg769His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Asn1168Lys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Asn521Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp1112Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Asp2253Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Cys1559Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Cys429Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Glu1195Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gly1206Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Gly2165Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.His2123Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.His2143Pro Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.His2303Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Ile1882Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ile2166Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Ile530Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Leu1203Phe Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Leu1362Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Leu1542Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Leu1776Phe Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Leu2101Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Leu26Pro Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Leu452Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Met2132Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Met2220Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Met2227Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Phe1374Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Phe1604Leu Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease axonal type 2X
SPG11 p.Phe2176Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Phe2304Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Phe707Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Phe84Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Pro1180Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 5
SPG11 p.Pro658Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Ser1071Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Thr2299Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Trp1033Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Trp2347Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Trp857Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Tyr995Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 11
SPG11 p.Val773Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPG11 p.Ala1059Glu Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ala1344Pro Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Ala1366Thr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ala1474Val Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ala2340Ser Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ala2442Pro Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ala271Thr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Arg1207Gly Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Arg2034Gly Benign Single submitter
hereditary spastic paraplegia 11
SPG11 p.Arg2161Gln Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Arg525Ser Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Arg651Gln Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asn1060Asp Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asn1168Asp Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asn2219Ile Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asn2219Ser Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asn2315Lys Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asn521Ser Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp144Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp1519Glu Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Asp2102Val Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp2274Asn Uncertain significance Single submitter
SPG11 p.Asp2282Asn Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp2342Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp314Val Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Asp316Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Asp941His Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Cys125Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Cys1365Arg Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Cys1448Phe Uncertain significance Single submitter
SPG11 p.Cys1485Arg Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Cys1559Phe Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Cys1613Gly Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Cys1673Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Cys2006Gly Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Cys2284Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Cys518Ser Uncertain significance Single submitter
SPG11 p.Cys526Gly Uncertain significance Single submitter
SPG11 p.Cys591Phe Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Cys760Arg Likely pathogenic Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gln1062Pro Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gln1785Pro Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gln498His Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gln705Arg Uncertain significance Single submitter
SPG11 p.Glu1078Lys Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Glu1707Gly Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu1798Lys Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu2133Lys Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu2171Lys Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu2236Val Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu953Gln Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Glu953Lys Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly123Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly1262Cys Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly1987Ala Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly2197Asp Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly509Glu Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly524Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly749Glu Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Gly969Asp Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.His1181Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.His2303Asp Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.His531Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.His891Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile1150Thr Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Ile1444Ser Uncertain significance Single submitter
SPG11 p.Ile2120Thr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile2231Thr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile2381Thr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile537Met Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile696Phe Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Ile865Thr Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu1153Ser Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu1486Ile Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu1625Phe Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu1811Pro Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu2004Ser Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu2004Trp Uncertain significance Single submitter
SPG11 p.Leu2004Val Conflicting Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu2199Pro Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu2204Val Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Leu2223Met Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu2326Pro Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu2357Phe Conflicting Single submitter
Inborn genetic diseases
SPG11 p.Leu30Trp Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu502Phe Uncertain significance Single submitter
SPG11 p.Leu505Phe Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu587Val Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Leu589Ser Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Leu610Val Uncertain significance Single submitter
Inborn genetic diseases
SPG11 p.Leu611Phe Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Met1075Ile Uncertain significance Single submitter
hereditary spastic paraplegia 11
SPG11 p.Met1089Arg Uncertain significance Single submitter
hereditary spastic paraplegia 11

All SPG11 variants

Pathogenic 332

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

c.2444+1G>A Multiple submitters hereditary spastic paraplegia 11
c.2444+1G>C Multiple submitters hereditary spastic paraplegia 11
c.3291+1G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.442+1G>C Multiple submitters SPG11-related disorder
c.5866+1G>A Multiple submitters hereditary spastic paraplegia 11
c.5867-1G>T Multiple submitters hereditary spastic paraplegia 11
c.7152-1G>C Multiple submitters SPG11-related disorder
c.869+1G>A Multiple submitters hereditary spastic paraplegia 11
p.Ala1059Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Ala2151fs Multiple submitters SPG11-related disorder
p.Arg1041Ter Multiple submitters hereditary spastic paraplegia 11
p.Arg1824Ter Multiple submitters SPG11-related disorder
p.Arg1992Ter Multiple submitters hereditary spastic paraplegia 11
p.Arg2031Ter Multiple submitters SPG11-related disorder
p.Arg2034Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Arg2286Ter Multiple submitters Inborn genetic diseases
p.Arg651Ter Multiple submitters SPG11-related disorder
p.Asn1104fs Multiple submitters hereditary spastic paraplegia 11
p.Asp1049fs Multiple submitters hereditary spastic paraplegia 11
p.Asp1370fs Multiple submitters hereditary spastic paraplegia 11
p.Asp402fs Multiple submitters amyotrophic lateral sclerosis type 5
p.Cys1107fs Multiple submitters hereditary spastic paraplegia 11
p.Cys2090fs Multiple submitters hereditary spastic paraplegia 11
p.Cys2324fs Multiple submitters hereditary spastic paraplegia 11
p.Gln1611fs Multiple submitters hereditary spastic paraplegia 11
p.Gln1720Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln1875Ter Multiple submitters SPG11-related disorder
p.Gln2140Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln2287Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln266Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln40Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln498Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln755fs Multiple submitters hereditary spastic paraplegia 11
p.Gln811Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Glu1026fs Multiple submitters SPG11-related disorder
p.Glu1630Ter Multiple submitters hereditary spastic paraplegia 11
p.Glu1819Alafs Multiple submitters amyotrophic lateral sclerosis type 5
p.Glu1921fs Multiple submitters hereditary spastic paraplegia 11
p.Glu2247fs Multiple submitters amyotrophic lateral sclerosis type 5
p.Glu2247Ter Multiple submitters hereditary spastic paraplegia 11
p.Glu2380Ter Multiple submitters hereditary spastic paraplegia 11
p.His1717fs Multiple submitters hereditary spastic paraplegia 11
p.His1902fs Multiple submitters hereditary spastic paraplegia 11
p.His1932fs Multiple submitters hereditary spastic paraplegia 11
p.His235fs Multiple submitters amyotrophic lateral sclerosis type 5
p.Ile1221fs Multiple submitters hereditary spastic paraplegia
p.Ile1593fs Multiple submitters hereditary spastic paraplegia 11
p.Ile177fs Multiple submitters hereditary spastic paraplegia 11
p.Ile1948fs Multiple submitters hereditary spastic paraplegia 11
p.Ile450fs Multiple submitters SPG11-related disorder
p.Ile722fs Multiple submitters hereditary spastic paraplegia 11
p.Ile971_Gln972delinsArgTer Multiple submitters hereditary spastic paraplegia 11
p.Leu2271fs Multiple submitters Abnormal central motor function
p.Leu613fs Multiple submitters hereditary spastic paraplegia 11
p.Leu950fs Multiple submitters hereditary spastic paraplegia
p.Leu997Ter Multiple submitters hereditary spastic paraplegia 11
p.Lys1222fs Multiple submitters Spastic paraplegia
p.Lys2358_Gly2359insTer Multiple submitters hereditary spastic paraplegia 11
p.Met1924fs Multiple submitters hereditary spastic paraplegia 11
p.Met245fs Multiple submitters SPG11-related disorder
p.Phe1752fs Multiple submitters Inborn genetic diseases
p.Pro1137_Ser1138insTer Multiple submitters hereditary spastic paraplegia 11
p.Pro1248fs Multiple submitters hereditary spastic paraplegia 11
p.Ser1923fs Multiple submitters SPG11-related disorder
p.Ser1955fs Multiple submitters hereditary spastic paraplegia 11
p.Ser261Ter Multiple submitters hereditary spastic paraplegia 11
p.Trp1597Ter Multiple submitters hereditary spastic paraplegia 11
p.Trp362Ter Multiple submitters amyotrophic lateral sclerosis type 5
p.Trp384Ter Multiple submitters hereditary spastic paraplegia 11
p.Trp85Ter Multiple submitters SPG11-related disorder
p.Trp89Ter Multiple submitters hereditary spastic paraplegia 11
p.Tyr1238fs Multiple submitters hereditary spastic paraplegia
p.Val1072fs Multiple submitters Inborn genetic diseases
p.Val1488fs Multiple submitters hereditary spastic paraplegia 11
p.Val1979Ter Multiple submitters hereditary spastic paraplegia
c.1603-1G>C Single submitter hereditary spastic paraplegia 11
c.1668_1669insSVAelement Single submitter hereditary spastic paraplegia 11
c.2068-2A>T Single submitter
c.(2244+1_2245-1 Single submitter hereditary spastic paraplegia
c.257+1G>A Single submitter hereditary spastic paraplegia 11
c.2621-1G>A Single submitter hereditary spastic paraplegia 11
c.2834+1G>A Single submitter hereditary spastic paraplegia 11
c.3686+2T>A Single submitter
c.3686+4A>G Single submitter hereditary spastic paraplegia 11
c.4002-2A>G Single submitter hereditary spastic paraplegia 11
c.442+1G>A Single submitter hereditary spastic paraplegia 11
c.4435-2A>G Single submitter hereditary spastic paraplegia 11
c.5121+1G>T Single submitter
c.(5866+1_5867-1 Single submitter hereditary spastic paraplegia 11
c.5867-1G>A Single submitter hereditary spastic paraplegia 11
c.6206-1G>C Single submitter hereditary spastic paraplegia 11
c.869+1G>T Single submitter
p.Ala106fs Single submitter hereditary spastic paraplegia 11
p.Ala1171fs Single submitter hereditary spastic paraplegia 11
p.Ala1192fs Single submitter hereditary spastic paraplegia 11
p.Ala1687fs Single submitter hereditary spastic paraplegia 11
p.Ala1726fs Single submitter hereditary spastic paraplegia 11
p.Ala1779fs Single submitter hereditary spastic paraplegia 11
p.Ala2122fs Single submitter hereditary spastic paraplegia 11
p.Ala2142fs Single submitter hereditary spastic paraplegia 11
p.Ala2348fs Single submitter hereditary spastic paraplegia 11
p.Ala282fs Single submitter hereditary spastic paraplegia 11
p.Ala532fs Single submitter hereditary spastic paraplegia 11
p.Arg1563fs Single submitter hereditary spastic paraplegia 11
p.Arg1869fs Single submitter hereditary spastic paraplegia 11
p.Arg1952fs Single submitter hereditary spastic paraplegia 11
p.Arg2059fs Single submitter hereditary spastic paraplegia 11
p.Arg24fs Single submitter hereditary spastic paraplegia 11
p.Arg77fs Single submitter
p.Arg869fs Single submitter hereditary spastic paraplegia 11
p.Asn1369fs Single submitter hereditary spastic paraplegia 11
p.Asn2362Ter Single submitter hereditary spastic paraplegia 11
p.Asn284fs Single submitter hereditary spastic paraplegia 11
p.Asn503fs Single submitter hereditary spastic paraplegia 11
p.Asn727fs Single submitter metabolic disease
p.Asn732_Leu733insTer Single submitter hereditary spastic paraplegia 11
p.Asn780fs Single submitter hereditary spastic paraplegia
p.Asn933_Tyr934insTer Single submitter hereditary spastic paraplegia 11
p.Asp1112fs Single submitter
p.Asp1512fs Single submitter hereditary spastic paraplegia 11
p.Asp1600fs Single submitter hereditary spastic paraplegia 11
p.Asp1960fs Single submitter hereditary spastic paraplegia 11
p.Asp2030fs Single submitter
p.Asp2177fs Single submitter hereditary spastic paraplegia 11
p.Asp566fs Single submitter hereditary spastic paraplegia 11
p.Asp846fs Single submitter hereditary spastic paraplegia 11
p.Cys1485_Leu1486delinsGluAlaArgThrLeuArgIleGlyAlaCysCysPheThrAlaSerThrArgSerGlnCysGlnGluSerGlySerSerGluHisTrpSerArgIleSerAsnLysSerValIleSerCysLeuLeuProTer Single submitter hereditary spastic paraplegia 11
p.Cys1603fs Single submitter hereditary spastic paraplegia 11
p.Cys1734fs Single submitter hereditary spastic paraplegia 11
p.Cys1866Ter Single submitter hereditary spastic paraplegia 11
p.Cys1996fs Single submitter hereditary spastic paraplegia 11
p.Cys481fs Single submitter hereditary spastic paraplegia 11
p.Cys518fs Single submitter hereditary spastic paraplegia 11
p.Gln1055fs Single submitter hereditary spastic paraplegia 11
p.Gln1062Ter Single submitter hereditary spastic paraplegia 11
p.Gln1097Ter Single submitter hereditary spastic paraplegia 11
p.Gln1114Ter Single submitter hereditary spastic paraplegia 11
p.Gln1231Ter Single submitter hereditary spastic paraplegia 11
p.Gln1400Ter Single submitter hereditary spastic paraplegia 11
p.Gln145fs Single submitter hereditary spastic paraplegia 11
p.Gln1465Ter Single submitter hereditary spastic paraplegia 11
p.Gln1466Ter Single submitter
p.Gln1478Ter Single submitter hereditary spastic paraplegia 11
p.Gln1541Ter Single submitter hereditary spastic paraplegia 11
p.Gln1576fs Single submitter hereditary spastic paraplegia 11
p.Gln1612Ter Single submitter hereditary spastic paraplegia 11
p.Gln1616Ter Single submitter hereditary spastic paraplegia 11
p.Gln1624Ter Single submitter hereditary spastic paraplegia 11
p.Gln1647Ter Single submitter hereditary spastic paraplegia 11
p.Gln1808Ter Single submitter hereditary spastic paraplegia 11
p.Gln1815Ter Single submitter hereditary spastic paraplegia 11
p.Gln1936Ter Single submitter hereditary spastic paraplegia 11
p.Gln198Ter Single submitter hereditary spastic paraplegia 11
p.Gln2042fs Single submitter hereditary spastic paraplegia 11
p.Gln2081fs Single submitter hereditary spastic paraplegia 11
p.Gln2242Ter Single submitter hereditary spastic paraplegia 11
p.Gln2260Ter Single submitter hereditary spastic paraplegia 11
p.Gln2263Ter Single submitter hereditary spastic paraplegia 11
p.Gln2354fs Single submitter hereditary spastic paraplegia 11
p.Gln2369Ter Single submitter hereditary spastic paraplegia 11
p.Gln250delinsHisTer Single submitter hereditary spastic paraplegia 11
p.Gln341Ter Single submitter hereditary spastic paraplegia 11
p.Gln382Ter Single submitter hereditary spastic paraplegia 11
p.Gln421Ter Single submitter hereditary spastic paraplegia 11
p.Gln458Ter Single submitter hereditary spastic paraplegia 11
p.Gln46Ter Single submitter hereditary spastic paraplegia 11
p.Gln478Ter Single submitter amyotrophic lateral sclerosis type 5
p.Gln637Ter Single submitter hereditary spastic paraplegia 11
p.Gln64Ter Single submitter Inborn genetic diseases
p.Gln811fs Single submitter
p.Gln913Ter Single submitter hereditary spastic paraplegia 11
p.Gln914Ter Single submitter hereditary spastic paraplegia 11
p.Gln972Ter Single submitter hereditary spastic paraplegia 11
p.Glu1023Ter Single submitter hereditary spastic paraplegia 11
p.Glu112Ter Single submitter hereditary spastic paraplegia 11
p.Glu117Ter Single submitter hereditary spastic paraplegia 11
p.Glu1567fs Single submitter hereditary spastic paraplegia 11
p.Glu1678Ter Single submitter hereditary spastic paraplegia 11
p.Glu1707fs Single submitter hereditary spastic paraplegia 11
p.Glu1719fs Single submitter
p.Glu1864fs Single submitter hereditary spastic paraplegia 11
p.Glu1939Ter Single submitter hereditary spastic paraplegia 11
p.Glu2111fs Single submitter hereditary spastic paraplegia 11
p.Glu2365delinsAlaTer Single submitter hereditary spastic paraplegia 11
p.Glu243fs Single submitter hereditary spastic paraplegia 11
p.Glu426fs Single submitter hereditary spastic paraplegia 11
p.Glu52Ter Single submitter hereditary spastic paraplegia 11
p.Glu5fs Single submitter hereditary spastic paraplegia 11
p.Glu667Ter Single submitter hereditary spastic paraplegia 11
p.Glu778fs Single submitter hereditary spastic paraplegia 11
p.Glu786Ter Single submitter hereditary spastic paraplegia 11
p.Glu797fs Single submitter hereditary spastic paraplegia 11
p.Glu841fs Single submitter hereditary spastic paraplegia 11
p.Glu902Ter Single submitter hereditary spastic paraplegia 11
p.Glu984Ter Single submitter hereditary spastic paraplegia 11
p.Gly1322fs Single submitter
p.Gly2067fs Single submitter hereditary spastic paraplegia 11
p.Gly2069fs Single submitter hereditary spastic paraplegia 11
p.Gly2213fs Single submitter Inborn genetic diseases
p.Gly309Ter Single submitter hereditary spastic paraplegia 11
p.Gly74fs Single submitter hereditary spastic paraplegia 11
p.Gly76fs Single submitter hereditary spastic paraplegia 11
p.His1246fs Single submitter hereditary spastic paraplegia 11
p.His1590fs Single submitter hereditary spastic paraplegia 11
p.His2109_Gly2110insPheTyrThrValGlyGlyThrValAsnTer Single submitter hereditary spastic paraplegia 11
p.His2180fs Single submitter hereditary spastic paraplegia 11
p.His377fs Single submitter hereditary spastic paraplegia 11
p.His531fs Single submitter
p.His671fs Single submitter hereditary spastic paraplegia 11
p.Ile1065fs Single submitter hereditary spastic paraplegia 11
p.Ile1150fs Single submitter hereditary spastic paraplegia 11
p.Ile1172fs Single submitter hereditary spastic paraplegia 11
p.Ile1327fs Single submitter hereditary spastic paraplegia 11
p.Ile2023fs Single submitter hereditary spastic paraplegia 11
p.Ile2175fs Single submitter hereditary spastic paraplegia 11
p.Ile2207fs Single submitter hereditary spastic paraplegia 11
p.Ile870Val Single submitter hereditary spastic paraplegia ⚠
p.Leu1005fs Single submitter hereditary spastic paraplegia 11
p.Leu1027Ter Single submitter hereditary spastic paraplegia
p.Leu1037fs Single submitter hereditary spastic paraplegia 11
p.Leu1047Ter Single submitter hereditary spastic paraplegia 11
p.Leu1470fs Single submitter hereditary spastic paraplegia 11
p.Leu154fs Single submitter hereditary spastic paraplegia 11
p.Leu1558fs Single submitter hereditary spastic paraplegia 11
p.Leu1605_Leu1606insTer Single submitter hereditary spastic paraplegia 11
p.Leu1605fs Single submitter hereditary spastic paraplegia 11
p.Leu1775fs Single submitter hereditary spastic paraplegia 11
p.Leu1935fs Single submitter hereditary spastic paraplegia 11
p.Leu193fs Single submitter hereditary spastic paraplegia 11
p.Leu2095Ter Single submitter hereditary spastic paraplegia 11
p.Leu493Ter Single submitter hereditary spastic paraplegia 11
p.Leu744fs Single submitter hereditary spastic paraplegia 11
p.Lys1024Ter Single submitter hereditary spastic paraplegia 11
p.Lys1303fs Single submitter hereditary spastic paraplegia 11
p.Lys1333fs Single submitter hereditary spastic paraplegia 11
p.Lys1333Ter Single submitter hereditary spastic paraplegia 11
p.Lys1356fs Single submitter hereditary spastic paraplegia 11
p.Lys140fs Single submitter hereditary spastic paraplegia 11
p.Lys1706fs Single submitter hereditary spastic paraplegia 11
p.Lys1706Ter Single submitter hereditary spastic paraplegia 11
p.Lys1740fs Single submitter hereditary spastic paraplegia 11
p.Lys1963Ter Single submitter hereditary spastic paraplegia 11
p.Lys2103fs Single submitter hereditary spastic paraplegia 11
p.Lys2358fs Single submitter hereditary spastic paraplegia 11
p.Lys350fs Single submitter hereditary spastic paraplegia 11
p.Lys676fs Single submitter hereditary spastic paraplegia 11
p.Lys684fs Single submitter hereditary spastic paraplegia 11
p.Lys779fs Single submitter hereditary spastic paraplegia 11
p.Lys825fs Single submitter hereditary spastic paraplegia 11
p.Met2220fs Single submitter hereditary spastic paraplegia 11
p.Met38fs Single submitter hereditary spastic paraplegia 11
p.Phe1349fs Single submitter hereditary spastic paraplegia 11
p.Phe1626fs Single submitter hereditary spastic paraplegia 11
p.Phe1822fs Single submitter hereditary spastic paraplegia 11
p.Phe1843fs Single submitter hereditary spastic paraplegia 11
p.Phe2074fs Single submitter
p.Phe214fs Single submitter hereditary spastic paraplegia 11
p.Phe2361fs Single submitter hereditary spastic paraplegia 11
p.Phe259fs Single submitter hereditary spastic paraplegia 11
p.Phe494fs Single submitter hereditary spastic paraplegia 11
p.Phe617fs Single submitter hereditary spastic paraplegia 11
p.Phe708fs Single submitter hereditary spastic paraplegia 11
p.Phe750fs Single submitter amyotrophic lateral sclerosis type 5
p.Phe824fs Single submitter
p.Pro1155fs Single submitter SPG11-related spastic paraplegia
p.Pro2046fs Single submitter hereditary spastic paraplegia 11
p.Pro2076fs Single submitter hereditary spastic paraplegia 11
p.Pro2212fs Single submitter hereditary spastic paraplegia 11
p.Pro318fs Single submitter hereditary spastic paraplegia 11
p.Pro361fs Single submitter hereditary spastic paraplegia 11
p.Ser1015Ter Single submitter hereditary spastic paraplegia 11
p.Ser1358fs Single submitter hereditary spastic paraplegia 11
p.Ser1521Ter Single submitter hereditary spastic paraplegia 11
p.Ser1961fs Single submitter hereditary spastic paraplegia 11
p.Ser2106fs Single submitter hereditary spastic paraplegia 11
p.Ser2278fs Single submitter hereditary spastic paraplegia 11
p.Ser261fs Single submitter
p.Ser527Ter Single submitter hereditary spastic paraplegia 11
p.Ser551_Lys552insArgLysIlePhePhePhePhePhePhePheXaaXaaXaaGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGly Single submitter hereditary spastic paraplegia 11
p.Ser680fs Single submitter hereditary spastic paraplegia 11
p.Ser72fs Single submitter hereditary spastic paraplegia 11
p.Ser871fs Single submitter hereditary spastic paraplegia 11
p.Thr1777fs Single submitter hereditary spastic paraplegia 11
p.Thr1818fs Single submitter hereditary spastic paraplegia 11
p.Thr19fs Single submitter hereditary spastic paraplegia 11
p.Thr2088fs Single submitter hereditary spastic paraplegia 11
p.Thr614fs Single submitter hereditary spastic paraplegia 11
p.Trp1176Ter Single submitter hereditary spastic paraplegia 11
p.Trp1324Ter Single submitter hereditary spastic paraplegia 11
p.Trp1455Ter Single submitter hereditary spastic paraplegia 11
p.Trp1457Ter Single submitter
p.Trp1721fs Single submitter hereditary spastic paraplegia 11
p.Trp1731Ter Single submitter hereditary spastic paraplegia 11
p.Trp17Ter Single submitter hereditary spastic paraplegia 11
p.Trp221Ter Single submitter SPG11-related disorder
p.Trp2251Ter Single submitter hereditary spastic paraplegia 11
p.Trp338Ter Single submitter hereditary spastic paraplegia 11
p.Trp856Ter Single submitter hereditary spastic paraplegia 11
p.Trp893Ter Single submitter hereditary spastic paraplegia 11
p.Tyr1012fs Single submitter hereditary spastic paraplegia 11

Pathogenic/Likely pathogenic 78

c.1457-2A>G Multiple submitters amyotrophic lateral sclerosis type 5
c.1735+3_1735+6del Multiple submitters hereditary spastic paraplegia 11
c.1891+1G>T Multiple submitters hereditary spastic paraplegia 11
c.2316+1G>A Multiple submitters SPG11-related disorder
c.2317-13C>G Multiple submitters SPG11-related disorder
c.258-2A>C Multiple submitters Inborn genetic diseases
c.2834+1G>T Multiple submitters hereditary spastic paraplegia 11
c.3037_3038+8del Multiple submitters hereditary spastic paraplegia 11
c.3039-5T>G Multiple submitters hereditary spastic paraplegia
c.4434+1G>A Multiple submitters hereditary spastic paraplegia 11
c.5866_5866+4del Multiple submitters SPG11-related disorder
c.6205+1G>A Multiple submitters hereditary spastic paraplegia 11
c.6999+1G>C Multiple submitters hereditary spastic paraplegia 11
c.7000-3_7000-2insAGG Multiple submitters hereditary spastic paraplegia
c.7151+4_7151+7del Multiple submitters SPG11-related disorder
c.7152-2A>G Multiple submitters hereditary spastic paraplegia 11
p.Ala10fs Multiple submitters hereditary spastic paraplegia 11
p.Ala2334Pro Multiple submitters hereditary spastic paraplegia
p.Arg2137Ter Multiple submitters amyotrophic lateral sclerosis type 5
p.Arg48fs Multiple submitters SPG11-related disorder
p.Arg815Lys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg945Gly Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Asn1106_Cys1107insTer Multiple submitters amyotrophic lateral sclerosis type 5
p.Asn1583Ter Multiple submitters Inborn genetic diseases
p.Cys1991fs Multiple submitters hereditary spastic paraplegia
p.Cys959Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln1447Ter Multiple submitters amyotrophic lateral sclerosis type 5
p.Gln1531Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln1624fs Multiple submitters hereditary spastic paraplegia 11
p.Gln1800Ter Multiple submitters Inborn genetic diseases
p.Gln1993Ter Multiple submitters amyotrophic lateral sclerosis type 5
p.Gln2091Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln2309Ter Multiple submitters hereditary spastic paraplegia 11
p.Gln364Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Gln541Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Gln609Ter Multiple submitters hereditary spastic paraplegia
p.Gln716Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Gln906fs Multiple submitters hereditary spastic paraplegia 11
p.Glu1672Ter Multiple submitters hereditary spastic paraplegia 11
p.Glu953Ter Multiple submitters hereditary spastic paraplegia
p.His1928fs Multiple submitters SPG11-related disorder
p.Ile1230fs Multiple submitters Abnormal central motor function
p.Ile1359fs Multiple submitters hereditary spastic paraplegia 11
p.Ile2246fs Multiple submitters hereditary spastic paraplegia 11
p.Ile2325fs Multiple submitters hereditary spastic paraplegia 11
p.Leu1001fs Multiple submitters hereditary spastic paraplegia 11
p.Leu1698Ter Multiple submitters hereditary spastic paraplegia
p.Leu1794Pro Multiple submitters hereditary spastic paraplegia
p.Leu1997fs Multiple submitters hereditary spastic paraplegia 11
p.Leu2300Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Leu2372Ter Multiple submitters hereditary spastic paraplegia 11
p.Leu491fs Multiple submitters SPG11-related disorder
p.Leu493fs Multiple submitters hereditary spastic paraplegia
p.Leu68fs Multiple submitters amyotrophic lateral sclerosis type 5
p.Lys1025fs Multiple submitters hereditary spastic paraplegia 11
p.Lys1621fs Multiple submitters hereditary spastic paraplegia 11
p.Lys1706delinsGlyTyrTer Multiple submitters hereditary spastic paraplegia 11
p.Lys1733fs Multiple submitters hereditary spastic paraplegia 11
p.Lys2200Ter Multiple submitters early-onset Parkinson disease 20
p.Lys2384Ter Multiple submitters hereditary spastic paraplegia 11
p.Lys656fs Multiple submitters hereditary spastic paraplegia 11
p.Pro1949_Leu1950insTer Multiple submitters Inborn genetic diseases
p.Pro1968fs Multiple submitters SPG11-related disorder
p.Ser412Ter Multiple submitters amyotrophic lateral sclerosis type 5
p.Ser607fs Multiple submitters hereditary spastic paraplegia 11
p.Thr1764fs Multiple submitters SPG11-related disorder
p.Thr2068= Multiple submitters amyotrophic lateral sclerosis type 5
p.Thr206fs Multiple submitters amyotrophic lateral sclerosis type 5
p.Thr2077fs Multiple submitters hereditary spastic paraplegia 11
p.Thr2116fs Multiple submitters hereditary spastic paraplegia 11
p.Thr2146fs Multiple submitters hereditary spastic paraplegia 11
p.Trp857Ter Multiple submitters hereditary spastic paraplegia 11
p.Tyr2385Ter Multiple submitters amyotrophic lateral sclerosis type 5
p.Tyr875Ter Multiple submitters hereditary spastic paraplegia 11
p.Val1270Asp Multiple submitters amyotrophic lateral sclerosis type 5
p.Val1498fs Multiple submitters hereditary spastic paraplegia 11
p.Val1592fs Multiple submitters hereditary spastic paraplegia
p.Val443fs Multiple submitters hereditary spastic paraplegia 11

Likely pathogenic 135

c.1602+1G>A Multiple submitters hereditary spastic paraplegia 11
c.3039-1G>T Multiple submitters hereditary spastic paraplegia 11
c.4162-10T>G Multiple submitters amyotrophic lateral sclerosis type 5
c.6478-2A>C Multiple submitters hereditary spastic paraplegia 11
c.6755-1G>A Multiple submitters hereditary spastic paraplegia
p.Arg93fs Multiple submitters SPG11-related disorder
p.Asn286fs Multiple submitters hereditary spastic paraplegia 11
c.1007+1G>A Single submitter hereditary spastic paraplegia 11
c.1008-1G>A Single submitter hereditary spastic paraplegia 11
c.1449_1456+15del Single submitter SPG11-related disorder
c.1456+1G>T Single submitter hereditary spastic paraplegia 11
c.1603-25_1690del Single submitter hereditary spastic paraplegia 11
c.2068-1G>A Single submitter hereditary spastic paraplegia 11
c.2068-498T>G Single submitter hereditary spastic paraplegia 11
c.2316+5G>A Single submitter hereditary spastic paraplegia 11
c.258-2A>G Single submitter hereditary spastic paraplegia 11
c.3038+1G>A Single submitter SPG11-related disorder
c.3039-1G>A Single submitter hereditary spastic paraplegia 11
c.3039-2A>C Single submitter hereditary spastic paraplegia 11
c.3114_3145+45del Single submitter hereditary spastic paraplegia 11
c.3145+1G>A Single submitter SPG11-related disorder
c.3145+1G>T Single submitter hereditary spastic paraplegia 11
c.3146-1G>C Single submitter hereditary spastic paraplegia 11
c.3453+1G>T Single submitter hereditary spastic paraplegia 11
c.3454-28A>G Single submitter hereditary spastic paraplegia 11
c.3520+1G>A Single submitter hereditary spastic paraplegia 11
c.3521-2A>G Single submitter hereditary spastic paraplegia 11
c.3686+2_3686+3del Single submitter hereditary spastic paraplegia 11
c.3687-1_3687delinsTA Single submitter hereditary spastic paraplegia 11
c.3687-2A>G Single submitter hereditary spastic paraplegia 11
c.3893-14_3902inv Single submitter hereditary spastic paraplegia 11
c.4002-1G>C Single submitter hereditary spastic paraplegia 11
c.4002-2A>C Single submitter hereditary spastic paraplegia 11
c.4002-7_4002-1del Single submitter hereditary spastic paraplegia 11
c.442+4_442+7del Single submitter hereditary spastic paraplegia 11
c.4906+2T>C Single submitter hereditary spastic paraplegia 11
c.4907-10_4911del Single submitter hereditary spastic paraplegia 11
c.4907-2A>C Single submitter hereditary spastic paraplegia 11
c.5121+2T>G Single submitter hereditary spastic paraplegia 11
c.5122-1G>A Single submitter hereditary spastic paraplegia 11
c.6006+1_6006+5del Single submitter hereditary spastic paraplegia 11
c.6206-2A>G Single submitter hereditary spastic paraplegia 11
c.6343+1G>T Single submitter hereditary spastic paraplegia 11
c.6343+2T>C Single submitter hereditary spastic paraplegia 11
c.6477+1G>C Single submitter hereditary spastic paraplegia 11
c.6478-2A>G Single submitter hereditary spastic paraplegia 11
c.6585+2T>G Single submitter hereditary spastic paraplegia 11
c.6586-1G>A Single submitter hereditary spastic paraplegia 11
c.6586-1G>T Single submitter hereditary spastic paraplegia 11
c.667+1G>A Single submitter hereditary spastic paraplegia 11
c.668-1G>A Single submitter hereditary spastic paraplegia 11
c.668-1G>T Single submitter hereditary spastic paraplegia 11
c.6754+5G>A Single submitter
c.6826_6843+8del Single submitter hereditary spastic paraplegia 11
c.6844-2A>G Single submitter hereditary spastic paraplegia 11
c.6999+1G>T Single submitter hereditary spastic paraplegia
c.7000-1G>A Single submitter hereditary spastic paraplegia 11
c.7000-3_7000-2delinsGC Single submitter hereditary spastic paraplegia 11
c.7151+2dup Single submitter SPG11-related disorder
c.7151+2T>G Single submitter hereditary spastic paraplegia 11
p.Ala1696Gly Single submitter hereditary spastic paraplegia 11 ⚠
p.Arg1334fs Single submitter hereditary spastic paraplegia 11
p.Arg2371fs Single submitter SPG11-related disorder
p.Arg788fs Single submitter hereditary spastic paraplegia 11
p.Asn1325fs Single submitter
p.Asn1868fs Single submitter amyotrophic lateral sclerosis type 5
p.Asn557fs Single submitter SPG11-related disorder
p.Asp663fs Single submitter hereditary spastic paraplegia 11
p.Asp840fs Single submitter hereditary spastic paraplegia 11
p.Cys1019Ter Single submitter hereditary spastic paraplegia 11
p.Cys2291fs Single submitter hereditary spastic paraplegia 11
p.Cys760Arg Single submitter hereditary spastic paraplegia 11 ⚠
p.Cys79Ter Single submitter
p.Cys931fs Single submitter hereditary spastic paraplegia 11
p.Gln1348Ter Single submitter
p.Gln1611Ter Single submitter amyotrophic lateral sclerosis type 5
p.Gln1825Ter Single submitter Abnormal central motor function
p.Gln2085Ter Single submitter hereditary spastic paraplegia 11
p.Gln2387Ter Single submitter hereditary spastic paraplegia 11
p.Gln251Ter Single submitter hereditary spastic paraplegia 11
p.Gln479Ter Single submitter hereditary spastic paraplegia
p.Glu1338Ter Single submitter hereditary spastic paraplegia 11
p.Glu1443Ter Single submitter Autosomal recessive SPG11-related disorders
p.Glu1618Ter Single submitter hereditary spastic paraplegia 11
p.Glu1867fs Single submitter hereditary spastic paraplegia 11
p.Glu1893Ter Single submitter hereditary spastic paraplegia 11
p.Glu2051Ter Single submitter hereditary spastic paraplegia 11
p.Glu2117fs Single submitter amyotrophic lateral sclerosis type 5
p.Glu2366Ter Single submitter hereditary spastic paraplegia 11
p.Glu955Ter Single submitter hereditary spastic paraplegia 11
p.Glu958fs Single submitter hereditary spastic paraplegia 11
p.Gly1262fs Single submitter amyotrophic lateral sclerosis type 5
p.Gly2167fs Single submitter hereditary spastic paraplegia
p.Gly2258fs Single submitter hereditary spastic paraplegia 11
p.His2388fs Single submitter hereditary spastic paraplegia 11
p.His292fs Single submitter SPG11-related disorder
p.Ile1469fs Single submitter hereditary spastic paraplegia 11
p.Ile2135fs Single submitter Spastic paraplegia
p.Ile425fs Single submitter hereditary spastic paraplegia 11
p.Leu1527fs Single submitter hereditary spastic paraplegia 11
p.Leu1582fs Single submitter
p.Leu1623fs Single submitter hereditary spastic paraplegia 11
p.Leu1837Ter Single submitter Abnormal central motor function
p.Leu2150fs Single submitter hereditary spastic paraplegia
p.Leu860fs Single submitter SPG11-related disorder
p.Leu920fs Single submitter
p.Lys1125fs Single submitter hereditary spastic paraplegia 11
p.Lys2267fs Single submitter hereditary spastic paraplegia 11
p.Phe1442fs Single submitter Autosomal recessive SPG11-related disorders
p.Phe626fs Single submitter hereditary spastic paraplegia 11
p.Pro27fs Single submitter hereditary spastic paraplegia 11
p.Ser1249fs Single submitter amyotrophic lateral sclerosis type 5
p.Ser1302fs Single submitter hereditary spastic paraplegia 11
p.Ser2065Ter Single submitter hereditary spastic paraplegia 11
p.Ser2080fs Single submitter SPG11-related disorder
p.Ser265fs Single submitter hereditary spastic paraplegia 11
p.Ser560Ter Single submitter hereditary spastic paraplegia 11
p.Ser607Ter Single submitter hereditary spastic paraplegia 11
p.Thr2198_Leu2199insTer Single submitter hereditary spastic paraplegia 11
p.Trp1802Ter Single submitter hereditary spastic paraplegia 11
p.Trp683Ter Single submitter SPG11-related disorder
p.Tyr1006fs Single submitter hereditary spastic paraplegia 11
p.Tyr1090fs Single submitter
p.Tyr1900fs Single submitter hereditary spastic paraplegia 11
p.Tyr232Ter Single submitter hereditary spastic paraplegia 11
p.Tyr2341Ter Single submitter hereditary spastic paraplegia
p.Tyr323Ter Single submitter Charcot-Marie-Tooth disease
p.Val1038delinsTyrMetLysHisThrLeuGlyLeuAsnPheTer Single submitter hereditary spastic paraplegia 11
p.Val1270fs Single submitter hereditary spastic paraplegia 11
p.Val281fs Single submitter SPG11-related disorder
c.6205+2T>C No assertion criteria SPG11-related disorder
p.Asp2323fs No assertion criteria hereditary spastic paraplegia 11
p.Ser1244fs No assertion criteria hereditary spastic paraplegia 11
p.Thr2063fs No assertion criteria hereditary spastic paraplegia 11
p.Trp1872Ter No assertion criteria Charcot-Marie-Tooth disease axonal type 2X

Conflicting classifications of pathogenicity 165

c.1008-4C>T Single submitter hereditary spastic paraplegia 11
c.1008-5T>A Single submitter Inborn genetic diseases
c.1008-5T>G Single submitter Inborn genetic diseases
c.1457-4A>G Single submitter hereditary spastic paraplegia 11
c.1602+10T>G Single submitter Charcot-Marie-Tooth disease axonal type 2X
c.1603-5T>C Single submitter hereditary spastic paraplegia 11
c.1892-6C>T Single submitter Inborn genetic diseases
c.2067+7A>G Single submitter hereditary spastic paraplegia 11
c.2068-3T>C Single submitter hereditary spastic paraplegia 11
c.2068-4C>T Single submitter hereditary spastic paraplegia 11
c.2244+8G>A Single submitter hereditary spastic paraplegia 11
c.2245-13A>G Single submitter hereditary spastic paraplegia 11
c.2445-8G>C Single submitter hereditary spastic paraplegia 11
c.257+13G>A Single submitter hereditary spastic paraplegia 11
c.257+15A>C Single submitter hereditary spastic paraplegia 11
c.2621-5T>C Single submitter Inborn genetic diseases
c.2621-6A>G Single submitter hereditary spastic paraplegia 11
c.3038+14A>G Single submitter hereditary spastic paraplegia 11
c.3145+12C>T Single submitter hereditary spastic paraplegia 11
c.3146-6T>G Single submitter hereditary spastic paraplegia 11
c.3291+3A>G Single submitter hereditary spastic paraplegia 11
c.3292-1G>C Single submitter hereditary spastic paraplegia 11
c.3292-1G>T Single submitter Inborn genetic diseases
c.3453+5A>G Single submitter Inborn genetic diseases
c.4001+9G>T Single submitter hereditary spastic paraplegia 11
c.4161+9C>G Single submitter amyotrophic lateral sclerosis type 5
c.4162-10T>C Single submitter hereditary spastic paraplegia 11
c.4162-4C>T Single submitter hereditary spastic paraplegia
c.443-1G>A Single submitter hereditary spastic paraplegia 11
c.4744-6T>C Single submitter Inborn genetic diseases
c.5122-6del Single submitter Charcot-Marie-Tooth disease axonal type 2X
c.5866+5G>C Single submitter hereditary spastic paraplegia 11
c.6007-6T>C Single submitter hereditary spastic paraplegia 11
c.6205+10C>G Single submitter hereditary spastic paraplegia 11
c.6343+5G>T Single submitter hereditary spastic paraplegia 11
c.6477+4A>G Single submitter Charcot-Marie-Tooth disease axonal type 2X
c.6478-4del Single submitter hereditary spastic paraplegia
c.667+5C>T Single submitter hereditary spastic paraplegia
c.6754+2_6754+3dup Single submitter amyotrophic lateral sclerosis type 5
c.6999+1G>A Single submitter Inborn genetic diseases
c.7000-10T>G Single submitter hereditary spastic paraplegia 11
c.7000-8C>T Single submitter hereditary spastic paraplegia 11
c.7151+11A>C Single submitter hereditary spastic paraplegia 11
c.7151+4_7151+7dup Single submitter hereditary spastic paraplegia 11
c.7152-6A>G Single submitter hereditary spastic paraplegia 11
p.Ala106Thr Single submitter Inborn genetic diseases ⚠
p.Ala11Pro Single submitter hereditary spastic paraplegia 11 ⚠
p.Ala1298= Single submitter hereditary spastic paraplegia 11
p.Ala13= Single submitter hereditary spastic paraplegia 11
p.Ala1585= Single submitter hereditary spastic paraplegia 11
p.Ala1922Pro Single submitter Inborn genetic diseases
p.Ala20= Single submitter Inborn genetic diseases
p.Ala2151Gly Single submitter Inborn genetic diseases ⚠
p.Ala59Val Single submitter hereditary spastic paraplegia ⚠
p.Ala854Thr Single submitter hereditary spastic paraplegia 11 ⚠
p.Arg1351Lys Single submitter Inborn genetic diseases ⚠
p.Arg1772His Single submitter Inborn genetic diseases ⚠
p.Arg1824Gln Single submitter amyotrophic lateral sclerosis type 5 ⚠
p.Arg2021Gln Single submitter hereditary spastic paraplegia 11 ⚠
p.Arg2093His Single submitter amyotrophic lateral sclerosis type 5 ⚠
p.Arg2137Gln Single submitter Inborn genetic diseases ⚠
p.Arg2211His Single submitter Inborn genetic diseases ⚠
p.Arg2293Trp Single submitter Inborn genetic diseases ⚠
p.Arg815= Single submitter Inborn genetic diseases
p.Arg963= Single submitter Inborn genetic diseases
p.Asn1046= Single submitter hereditary spastic paraplegia 11
p.Asn1497Ser Single submitter hereditary spastic paraplegia 11 ⚠
p.Asn2075Ser Single submitter Inborn genetic diseases ⚠
p.Asn2315Thr Single submitter Inborn genetic diseases
p.Asn521Ser Single submitter hereditary spastic paraplegia 11 ⚠
p.Asn557Ser Single submitter hereditary spastic paraplegia 11 ⚠
p.Asp1186Glu Single submitter Inborn genetic diseases ⚠
p.Asp126Gly Single submitter Inborn genetic diseases ⚠
p.Asp1421Asn Single submitter hereditary spastic paraplegia 11 ⚠
p.Asp146Gly Single submitter hereditary spastic paraplegia 11 ⚠
p.Asp1888= Single submitter Inborn genetic diseases
p.Asp2253Glu Single submitter Inborn genetic diseases ⚠
p.Asp566Glu Single submitter amyotrophic lateral sclerosis ⚠
p.Asp588Gly Single submitter Charcot-Marie-Tooth disease axonal type 2X
p.Cys1107Ser Single submitter Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Cys1365Arg Single submitter hereditary spastic paraplegia 11 ⚠
p.Cys1866= Single submitter Charcot-Marie-Tooth disease axonal type 2X
p.Cys462Arg Single submitter Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Cys760= Single submitter Inborn genetic diseases
p.Gln1342= Single submitter Inborn genetic diseases
p.Gln1379= Single submitter Inborn genetic diseases
p.Gln2242= Single submitter amyotrophic lateral sclerosis type 5
p.Gln2260= Single submitter hereditary spastic paraplegia
p.Gln2387del Single submitter hereditary spastic paraplegia 11
p.Gln2387His Single submitter Inborn genetic diseases ⚠
p.Gln478Arg Single submitter hereditary spastic paraplegia 11 ⚠
p.Gln859= Single submitter hereditary spastic paraplegia 11
p.Glu136_Ile142del Single submitter hereditary spastic paraplegia
p.Glu1707Asp Single submitter Inborn genetic diseases
p.Glu1786= Single submitter hereditary spastic paraplegia 11
p.Glu1798Lys Single submitter hereditary spastic paraplegia 11 ⚠
p.Glu2252= Single submitter
p.Glu2417Lys Single submitter Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Glu4Lys Single submitter hereditary spastic paraplegia 11 ⚠
p.Glu689Gly Single submitter hereditary spastic paraplegia 11 ⚠
p.Glu958Asp Single submitter hereditary spastic paraplegia 11 ⚠
p.Gly1262Val Single submitter hereditary spastic paraplegia 11 ⚠
p.Gly1479Asp Single submitter Inborn genetic diseases ⚠
p.Gly394= Single submitter hereditary spastic paraplegia 11
p.Gly6Arg Single submitter Inborn genetic diseases ⚠
p.Gly723= Single submitter Inborn genetic diseases
p.His1671Tyr Single submitter hereditary spastic paraplegia 11 ⚠
p.His1932= Single submitter hereditary spastic paraplegia 11
p.His2149Gln Single submitter Inborn genetic diseases
p.Ile1146Val Single submitter hereditary spastic paraplegia 11 ⚠
p.Ile1250Thr Single submitter hereditary spastic paraplegia 11 ⚠
p.Ile391Val Single submitter Inborn genetic diseases ⚠
p.Leu1216= Single submitter amyotrophic lateral sclerosis type 5
p.Leu141= Single submitter hereditary spastic paraplegia 11
p.Leu1470= Single submitter hereditary spastic paraplegia 11
p.Leu1558= Single submitter hereditary spastic paraplegia 11
p.Leu1573= Single submitter hereditary spastic paraplegia
p.Leu1625Phe Single submitter hereditary spastic paraplegia 11 ⚠
p.Leu1680= Single submitter hereditary spastic paraplegia 11
p.Leu2004Val Single submitter hereditary spastic paraplegia 11 ⚠
p.Leu2086= Single submitter hereditary spastic paraplegia
p.Leu2095Ser Single submitter Inborn genetic diseases ⚠
p.Leu2300Arg Single submitter amyotrophic lateral sclerosis type 5 ⚠
p.Leu2300fs Single submitter hereditary spastic paraplegia 11
p.Leu2357Phe Single submitter Inborn genetic diseases ⚠
p.Leu2401= Single submitter Inborn genetic diseases
p.Leu297= Single submitter hereditary spastic paraplegia 11
p.Leu327Val Single submitter Inborn genetic diseases ⚠
p.Leu399= Single submitter hereditary spastic paraplegia 11
p.Leu452Phe Single submitter Inborn genetic diseases ⚠
p.Leu520Phe Single submitter Inborn genetic diseases ⚠
p.Lys1013Glu Single submitter amyotrophic lateral sclerosis ⚠
p.Lys1273Arg Single submitter hereditary spastic paraplegia ⚠
p.Lys2399= Single submitter hereditary spastic paraplegia 11
p.Lys2419Arg Single submitter hereditary spastic paraplegia ⚠
p.Lys255Glu Single submitter amyotrophic lateral sclerosis type 5 ⚠
p.Lys263= Single submitter Charcot-Marie-Tooth disease axonal type 2X
p.Lys876Glu Single submitter Inborn genetic diseases ⚠
p.Phe1199Val Single submitter hereditary spastic paraplegia 11
p.Phe2378Leu Single submitter Inborn genetic diseases ⚠
p.Phe2420Ile Single submitter Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Pro1208Leu Single submitter ⚠
p.Pro194Leu Single submitter Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Pro424Thr Single submitter hereditary spastic paraplegia ⚠
p.Pro601Thr Single submitter Inborn genetic diseases ⚠
p.Ser1142Cys Single submitter SPG11-related disorder ⚠
p.Ser12= Single submitter Inborn genetic diseases
p.Ser132Asn Single submitter Inborn genetic diseases ⚠
p.Ser164Leu Single submitter Inborn genetic diseases ⚠
p.Ser2065Pro Single submitter Inborn genetic diseases ⚠
p.Ser2153Ile Single submitter hereditary spastic paraplegia 11 ⚠
p.Ser374Cys Single submitter hereditary spastic paraplegia 11 ⚠
p.Ser592Leu Single submitter Inborn genetic diseases ⚠
p.Ser694= Single submitter hereditary spastic paraplegia 11
p.Thr128Ala Single submitter Inborn genetic diseases ⚠
p.Thr1311Ile Single submitter Inborn genetic diseases ⚠
p.Thr1500Ala Single submitter Inborn genetic diseases ⚠
p.Thr1526= Single submitter Inborn genetic diseases
p.Tyr1990Cys Single submitter hereditary spastic paraplegia 11 ⚠
p.Tyr2156= Single submitter hereditary spastic paraplegia 11
p.Tyr2341= Single submitter hereditary spastic paraplegia
p.Tyr886His Single submitter hereditary spastic paraplegia ⚠
p.Tyr909= Single submitter hereditary spastic paraplegia
p.Val2053Met Single submitter hereditary spastic paraplegia 11 ⚠
p.Val2187= Single submitter hereditary spastic paraplegia 11

Benign 58

c.1008-87T>C Multiple submitters
c.2244+42T>A Multiple submitters
c.2316+63G>T Multiple submitters
c.2317-171C>T Multiple submitters
c.2445-20del Multiple submitters amyotrophic lateral sclerosis type 5
c.257+35G>A Multiple submitters
c.2620+270T>G Multiple submitters
c.3146-102G>T Multiple submitters
c.6477+194T>C Multiple submitters
c.667+103T>C Multiple submitters
c.6754+19A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Gly2110= Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Leu1140= Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Phe463Ser Multiple submitters amyotrophic lateral sclerosis type 5
p.Ser331= Multiple submitters amyotrophic lateral sclerosis type 5
p.Thr449= Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.1603-309G>C Single submitter
c.1603-54dup Single submitter
c.1736-143G>A Single submitter
c.2245-16del Single submitter hereditary spastic paraplegia 11
c.257+276G>A Single submitter
c.258-113C>A Single submitter
c.2621-153_2621-150del Single submitter
c.2621-9_2621-8dup Single submitter hereditary spastic paraplegia 11
c.3291+261G>A Single submitter
c.3291+294A>G Single submitter
c.3292-7del Single submitter hereditary spastic paraplegia 11
c.3292-7dup Single submitter hereditary spastic paraplegia 11
c.3292-8_3292-7dup Single submitter hereditary spastic paraplegia 11
c.3892+14del Single submitter hereditary spastic paraplegia 11
c.4002-168del Single submitter
c.4002-169_4002-168del Single submitter
c.443-5del Single submitter hereditary spastic paraplegia 11
c.4434+11T>C Single submitter hereditary spastic paraplegia 11
c.4743+220del Single submitter
c.4743+234G>A Single submitter
c.4743+291C>T Single submitter
c.4907-154_4907-153dup Single submitter
c.4907-154dup Single submitter
c.4907-365C>T Single submitter hereditary spastic paraplegia 11
c.5121+13_5121+15dup Single submitter
c.5121+13dup Single submitter
c.5121+185_5121+186dup Single submitter
c.5121+185dup Single submitter
c.5121+32_5121+33del Single submitter
c.5121+33del Single submitter
c.6007-282_6007-281del Single submitter
c.6205+14del Single submitter hereditary spastic paraplegia 11
c.6205+9dup Single submitter hereditary spastic paraplegia 11
c.6206-119A>G Single submitter
c.6477+97G>A Single submitter
c.6585+210T>C Single submitter
c.6586-19del Single submitter hereditary spastic paraplegia 11
c.6754+233_6754+239del Single submitter
c.6754+57dup Single submitter
c.6754+74del Single submitter
p.Arg2034Gly Single submitter hereditary spastic paraplegia 11 ⚠
p.Gly1504= Single submitter hereditary spastic paraplegia 11

Benign/Likely benign 27

c.2445-32dup Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.257+17A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.258-6del Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.2621-15dup Multiple submitters amyotrophic lateral sclerosis type 5
c.2621-15T>G Multiple submitters amyotrophic lateral sclerosis type 5
c.5866+16C>A Multiple submitters hereditary spastic paraplegia 11
c.6006+15dup Multiple submitters hereditary spastic paraplegia 11
c.6477+13del Multiple submitters hereditary spastic paraplegia 11
c.6585+220_6585+221dup Multiple submitters
c.6755-17_6755-15del Multiple submitters amyotrophic lateral sclerosis type 5
c.7152-14_7152-10dup Multiple submitters amyotrophic lateral sclerosis type 5
p.Ala695Thr Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Arg1563Gly Multiple submitters amyotrophic lateral sclerosis type 5
p.Arg1691= Multiple submitters hereditary spastic paraplegia
p.Asn278Ser Multiple submitters hereditary spastic paraplegia
p.Asp244= Multiple submitters Inborn genetic diseases
p.Glu370Lys Multiple submitters amyotrophic lateral sclerosis type 5
p.Ile2298Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Ile450Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Leu1870= Multiple submitters Inborn genetic diseases
p.Lys1641Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Met22Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Phe1604Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Tyr396Cys Multiple submitters Inborn genetic diseases
p.Val2107Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Val270Ile Multiple submitters amyotrophic lateral sclerosis type 5
p.Val793Met Multiple submitters Inborn genetic diseases

Likely benign 1267

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

c.1007+56G>C Multiple submitters
c.1456+113T>G Multiple submitters
c.1456+114A>T Multiple submitters
c.1457-20A>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.1891+12A>G Multiple submitters hereditary spastic paraplegia 11
c.1891+97C>T Multiple submitters
c.2067+9G>A Multiple submitters hereditary spastic paraplegia 11
c.2068-16G>A Multiple submitters hereditary spastic paraplegia 11
c.2244+10G>T Multiple submitters hereditary spastic paraplegia 11
c.2317-14A>T Multiple submitters hereditary spastic paraplegia 11
c.2445-16A>G Multiple submitters hereditary spastic paraplegia 11
c.2445-20A>T Multiple submitters amyotrophic lateral sclerosis type 5
c.257+15A>G Multiple submitters hereditary spastic paraplegia 11
c.2621-26T>C Multiple submitters
c.2621-8del Multiple submitters hereditary spastic paraplegia 11
c.3038+74C>T Multiple submitters
c.3292-17T>C Multiple submitters hereditary spastic paraplegia 11
c.3292-6dup Multiple submitters amyotrophic lateral sclerosis type 5
c.3520+14G>A Multiple submitters hereditary spastic paraplegia 11
c.3521-16T>A Multiple submitters hereditary spastic paraplegia 11
c.3687-11T>G Multiple submitters hereditary spastic paraplegia 11
c.3893-20_3893-9del Multiple submitters hereditary spastic paraplegia 11
c.4001+7G>A Multiple submitters hereditary spastic paraplegia 11
c.442+99C>T Multiple submitters
c.4435-8C>T Multiple submitters hereditary spastic paraplegia 11
c.4743+71T>G Multiple submitters
c.4907-13C>G Multiple submitters hereditary spastic paraplegia 11
c.4907-5C>T Multiple submitters hereditary spastic paraplegia 11
c.5121+12C>G Multiple submitters hereditary spastic paraplegia 11
c.6007-13G>C Multiple submitters hereditary spastic paraplegia 11
c.6205+12C>G Multiple submitters hereditary spastic paraplegia 11
c.6205+14C>T Multiple submitters hereditary spastic paraplegia 11
c.6344-28C>T Multiple submitters
c.6586-7T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.6754+50A>G Multiple submitters
c.7000-15A>G Multiple submitters hereditary spastic paraplegia 11
c.7000-20T>C Multiple submitters hereditary spastic paraplegia 11
c.*243A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Ala127= Multiple submitters hereditary spastic paraplegia 11
p.Ala2415= Multiple submitters Inborn genetic diseases
p.Ala53= Multiple submitters hereditary spastic paraplegia 11
p.Ala59= Multiple submitters Inborn genetic diseases
p.Ala715= Multiple submitters hereditary spastic paraplegia 11
p.Ala741= Multiple submitters hereditary spastic paraplegia 11
p.Arg1530= Multiple submitters hereditary spastic paraplegia 11
p.Arg1821= Multiple submitters hereditary spastic paraplegia 11
p.Arg2229= Multiple submitters hereditary spastic paraplegia 11
p.Arg73= Multiple submitters hereditary spastic paraplegia 11
p.Asn732= Multiple submitters hereditary spastic paraplegia 11
p.Asn852= Multiple submitters Inborn genetic diseases
p.Asp1157= Multiple submitters hereditary spastic paraplegia 11
p.Asp143= Multiple submitters hereditary spastic paraplegia 11
p.Asp1787= Multiple submitters Inborn genetic diseases
p.Asp2015= Multiple submitters hereditary spastic paraplegia 11
p.Asp267= Multiple submitters Inborn genetic diseases
p.Gln1228= Multiple submitters Inborn genetic diseases
p.Gln1436= Multiple submitters hereditary spastic paraplegia 11
p.Gln1685= Multiple submitters hereditary spastic paraplegia 11
p.Gln755= Multiple submitters hereditary spastic paraplegia 11
p.Glu1023Gly Multiple submitters Inborn genetic diseases
p.Glu1694= Multiple submitters hereditary spastic paraplegia 11
p.Glu1697= Multiple submitters hereditary spastic paraplegia 11
p.Gly108= Multiple submitters hereditary spastic paraplegia 11
p.Gly2434= Multiple submitters hereditary spastic paraplegia 11
p.His295= Multiple submitters hereditary spastic paraplegia 11
p.His377= Multiple submitters hereditary spastic paraplegia 11
p.His393= Multiple submitters hereditary spastic paraplegia 11
p.Ile1221= Multiple submitters hereditary spastic paraplegia 11
p.Ile204= Multiple submitters hereditary spastic paraplegia 11
p.Ile2120= Multiple submitters Inborn genetic diseases
p.Ile2356= Multiple submitters hereditary spastic paraplegia 11
p.Ile655= Multiple submitters hereditary spastic paraplegia 11
p.Leu1115= Multiple submitters hereditary spastic paraplegia 11
p.Leu113= Multiple submitters Inborn genetic diseases
p.Leu1260= Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Leu1357= Multiple submitters hereditary spastic paraplegia 11
p.Leu1632= Multiple submitters hereditary spastic paraplegia 11
p.Leu1778= Multiple submitters hereditary spastic paraplegia 11
p.Leu2245= Multiple submitters Inborn genetic diseases
p.Leu2294= Multiple submitters hereditary spastic paraplegia 11
p.Leu2313= Multiple submitters Inborn genetic diseases
p.Leu2414= Multiple submitters hereditary spastic paraplegia 11
p.Leu505= Multiple submitters hereditary spastic paraplegia 11
p.Leu587= Multiple submitters hereditary spastic paraplegia 11
p.Leu88= Multiple submitters Inborn genetic diseases
p.Leu943= Multiple submitters Inborn genetic diseases
p.Lys561= Multiple submitters hereditary spastic paraplegia 11
p.Lys735= Multiple submitters hereditary spastic paraplegia 11
p.Phe1162= Multiple submitters Inborn genetic diseases
p.Phe1182= Multiple submitters hereditary spastic paraplegia 11
p.Phe1374= Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Phe792= Multiple submitters hereditary spastic paraplegia 11
p.Pro34= Multiple submitters hereditary spastic paraplegia 11
p.Pro558= Multiple submitters hereditary spastic paraplegia 11
p.Pro601= Multiple submitters hereditary spastic paraplegia 11
p.Ser1184= Multiple submitters hereditary spastic paraplegia 11
p.Ser1533= Multiple submitters hereditary spastic paraplegia 11
p.Ser1923= Multiple submitters Inborn genetic diseases
p.Ser1969= Multiple submitters hereditary spastic paraplegia 11
p.Ser279= Multiple submitters hereditary spastic paraplegia 11
p.Ser9= Multiple submitters hereditary spastic paraplegia 11
p.Thr1709= Multiple submitters Inborn genetic diseases
p.Thr1851= Multiple submitters hereditary spastic paraplegia 11
p.Thr206= Multiple submitters hereditary spastic paraplegia 11
p.Thr2307= Multiple submitters hereditary spastic paraplegia 11
p.Thr763= Multiple submitters Inborn genetic diseases
p.Thr861= Multiple submitters hereditary spastic paraplegia 11
p.Tyr2404= Multiple submitters Inborn genetic diseases
p.Tyr2416= Multiple submitters Inborn genetic diseases
p.Tyr836= Multiple submitters hereditary spastic paraplegia 11
p.Val1908= Multiple submitters Inborn genetic diseases
p.Val1994= Multiple submitters hereditary spastic paraplegia 11
p.Val793= Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.1007+11T>C Single submitter hereditary spastic paraplegia 11
c.1008-11del Single submitter hereditary spastic paraplegia 11
c.1008-12C>T Single submitter hereditary spastic paraplegia 11
c.1008-16T>G Single submitter
c.1008-18A>G Single submitter hereditary spastic paraplegia 11
c.1008-20A>G Single submitter hereditary spastic paraplegia 11
c.1008-25_1008-24del Single submitter
c.1008-4C>G Single submitter hereditary spastic paraplegia 11
c.1008-9del Single submitter hereditary spastic paraplegia 11
c.1456+11C>T Single submitter hereditary spastic paraplegia 11
c.1456+11del Single submitter hereditary spastic paraplegia 11
c.1456+14G>C Single submitter hereditary spastic paraplegia 11
c.1456+16A>G Single submitter hereditary spastic paraplegia 11
c.1456+259A>G Single submitter
c.1456+275C>A Single submitter
c.1456+8T>G Single submitter hereditary spastic paraplegia 11
c.1456+9G>C Single submitter hereditary spastic paraplegia 11
c.1457-13A>G Single submitter hereditary spastic paraplegia 11
c.1457-14T>C Single submitter hereditary spastic paraplegia 11
c.1457-15_1457-14del Single submitter hereditary spastic paraplegia 11
c.1457-15T>G Single submitter hereditary spastic paraplegia 11
c.1457-18C>G Single submitter hereditary spastic paraplegia 11
c.1457-190del Single submitter
c.1457-19A>G Single submitter hereditary spastic paraplegia 11
c.1457-4A>C Single submitter hereditary spastic paraplegia 11
c.1457-75T>C Single submitter
c.1457-7C>A Single submitter hereditary spastic paraplegia 11
c.1602+19C>G Single submitter hereditary spastic paraplegia 11
c.1602+19C>T Single submitter hereditary spastic paraplegia 11
c.1602+20A>C Single submitter hereditary spastic paraplegia 11
c.1602+7_1602+8del Single submitter hereditary spastic paraplegia 11
c.1602+7G>A Single submitter hereditary spastic paraplegia 11
c.1603-11C>T Single submitter hereditary spastic paraplegia 11
c.1603-13C>T Single submitter hereditary spastic paraplegia 11
c.1603-8C>A Single submitter hereditary spastic paraplegia 11
c.1603-8C>T Single submitter hereditary spastic paraplegia 11
c.1735+10A>G Single submitter hereditary spastic paraplegia 11
c.1735+15G>A Single submitter hereditary spastic paraplegia 11
c.1735+16A>G Single submitter hereditary spastic paraplegia 11
c.1735+18T>C Single submitter hereditary spastic paraplegia 11
c.1735+20C>T Single submitter hereditary spastic paraplegia 11
c.1735+9A>G Single submitter hereditary spastic paraplegia 11
c.1736-11T>A Single submitter hereditary spastic paraplegia 11
c.1736-11T>C Single submitter hereditary spastic paraplegia 11
c.1736-18T>G Single submitter hereditary spastic paraplegia 11
c.1736-193A>C Single submitter
c.1736-7T>G Single submitter hereditary spastic paraplegia 11
c.1891+10G>A Single submitter hereditary spastic paraplegia 11
c.1891+13del Single submitter hereditary spastic paraplegia 11
c.1891+14C>G Single submitter hereditary spastic paraplegia 11
c.1891+15T>A Single submitter hereditary spastic paraplegia 11
c.1891+15T>C Single submitter hereditary spastic paraplegia 11
c.1891+16A>G Single submitter hereditary spastic paraplegia 11
c.1891+17G>A Single submitter hereditary spastic paraplegia 11
c.1891+18G>A Single submitter hereditary spastic paraplegia 11
c.1891+8T>A Single submitter hereditary spastic paraplegia 11
c.1891+8T>C Single submitter hereditary spastic paraplegia 11
c.1891+9A>G Single submitter hereditary spastic paraplegia 11
c.1892-15T>G Single submitter hereditary spastic paraplegia 11
c.1892-17A>G Single submitter hereditary spastic paraplegia 11
c.1892-4A>G Single submitter hereditary spastic paraplegia 11
c.2067+11A>C Single submitter hereditary spastic paraplegia 11
c.2067+11A>G Single submitter hereditary spastic paraplegia 11
c.2067+18_2067+20del Single submitter hereditary spastic paraplegia 11
c.2067+20A>C Single submitter hereditary spastic paraplegia 11
c.2067+222A>C Single submitter
c.2067+8C>G Single submitter hereditary spastic paraplegia 11
c.2067+8C>T Single submitter hereditary spastic paraplegia 11
c.2068-12T>C Single submitter hereditary spastic paraplegia 11
c.2068-17C>G Single submitter hereditary spastic paraplegia 11
c.2068-17C>T Single submitter hereditary spastic paraplegia 11
c.2068-7T>A Single submitter hereditary spastic paraplegia 11
c.2068-7T>C Single submitter hereditary spastic paraplegia 11
c.2244+10G>A Single submitter hereditary spastic paraplegia 11
c.2244+215C>A Single submitter
c.2244+271dup Single submitter
c.2245-13_2245-12del Single submitter hereditary spastic paraplegia 11
c.2245-13A>C Single submitter hereditary spastic paraplegia 11
c.2245-13A>T Single submitter hereditary spastic paraplegia 11
c.2316+15G>C Single submitter hereditary spastic paraplegia 11
c.2316+172A>G Single submitter
c.2317-10T>C Single submitter hereditary spastic paraplegia 11
c.2317-12T>G Single submitter hereditary spastic paraplegia 11
c.2317-17_2317-14del Single submitter hereditary spastic paraplegia 11
c.2317-8T>C Single submitter hereditary spastic paraplegia 11
c.2317-9T>C Single submitter hereditary spastic paraplegia 11
c.2444+11dup Single submitter hereditary spastic paraplegia 11
c.2444+13G>A Single submitter hereditary spastic paraplegia 11
c.2444+13G>C Single submitter hereditary spastic paraplegia 11
c.2444+15C>A Single submitter hereditary spastic paraplegia 11
c.2444+7T>C Single submitter hereditary spastic paraplegia 11
c.2444+8C>T Single submitter hereditary spastic paraplegia 11
c.2444+9A>G Single submitter hereditary spastic paraplegia 11
c.2445-14A>G Single submitter hereditary spastic paraplegia 11
c.2445-18T>C Single submitter hereditary spastic paraplegia 11
c.2445-19T>A Single submitter hereditary spastic paraplegia 11
c.2445-7T>C Single submitter hereditary spastic paraplegia 11
c.2445-8G>A Single submitter hereditary spastic paraplegia 11
c.257+12G>A Single submitter hereditary spastic paraplegia 11
c.257+14G>A Single submitter hereditary spastic paraplegia 11
c.257+17A>T Single submitter hereditary spastic paraplegia 11
c.257+18G>A Single submitter hereditary spastic paraplegia 11
c.257+18G>T Single submitter hereditary spastic paraplegia 11
c.257+7G>A Single submitter hereditary spastic paraplegia 11
c.257+8C>A Single submitter hereditary spastic paraplegia 11
c.257+8C>T Single submitter hereditary spastic paraplegia 11
c.257+9T>G Single submitter hereditary spastic paraplegia 11
c.258-12T>C Single submitter hereditary spastic paraplegia 11
c.258-16A>C Single submitter hereditary spastic paraplegia 11
c.258-19T>C Single submitter hereditary spastic paraplegia 11
c.258-22_258-19del Single submitter hereditary spastic paraplegia 11
c.258-49A>G Single submitter
c.258-8T>G Single submitter hereditary spastic paraplegia 11
c.2620+8T>A Single submitter hereditary spastic paraplegia 11
c.2621-12T>G Single submitter hereditary spastic paraplegia 11
c.2621-13T>C Single submitter hereditary spastic paraplegia 11
c.2621-16G>T Single submitter hereditary spastic paraplegia 11
c.2621-18G>A Single submitter hereditary spastic paraplegia 11
c.2621-18G>T Single submitter hereditary spastic paraplegia 11
c.2621-28A>G Single submitter
c.2621-4G>A Single submitter hereditary spastic paraplegia 11
c.2621-7C>T Single submitter hereditary spastic paraplegia 11
c.2621-7dup Single submitter hereditary spastic paraplegia 11
c.2621-84T>G Single submitter
c.2621-8T>C Single submitter hereditary spastic paraplegia 11
c.2834+15G>A Single submitter hereditary spastic paraplegia 11
c.2834+15G>C Single submitter hereditary spastic paraplegia 11
c.2834+15G>T Single submitter hereditary spastic paraplegia 11
c.2834+20A>C Single submitter hereditary spastic paraplegia 11
c.2834+20A>G Single submitter hereditary spastic paraplegia 11
c.2835-4A>G Single submitter hereditary spastic paraplegia 11
c.3038+12G>A Single submitter hereditary spastic paraplegia 11
c.3038+12G>C Single submitter hereditary spastic paraplegia 11
c.3038+18A>G Single submitter hereditary spastic paraplegia 11
c.3038+20T>C Single submitter hereditary spastic paraplegia 11
c.3038+220T>G Single submitter
c.3038+270G>A Single submitter
c.3038+8C>G Single submitter hereditary spastic paraplegia 11
c.3039-13G>T Single submitter hereditary spastic paraplegia 11
c.3039-17G>C Single submitter hereditary spastic paraplegia 11
c.3039-20T>G Single submitter hereditary spastic paraplegia 11
c.3039-5_3039-4delinsAT Single submitter hereditary spastic paraplegia 11
c.3039-5T>C Single submitter hereditary spastic paraplegia 11
c.3039-6A>G Single submitter hereditary spastic paraplegia 11
c.3039-6A>T Single submitter hereditary spastic paraplegia 11
c.3039-7T>C Single submitter hereditary spastic paraplegia 11
c.3039-8A>C Single submitter hereditary spastic paraplegia 11
c.3145+10T>C Single submitter hereditary spastic paraplegia 11
c.3145+10T>G Single submitter
c.3145+11A>C Single submitter hereditary spastic paraplegia 11
c.3145+11A>G Single submitter hereditary spastic paraplegia 11
c.3145+13T>C Single submitter hereditary spastic paraplegia 11
c.3145+15T>C Single submitter hereditary spastic paraplegia 11
c.3145+16A>G Single submitter hereditary spastic paraplegia 11
c.3145+19A>G Single submitter hereditary spastic paraplegia 11
c.3145+8T>C Single submitter hereditary spastic paraplegia 11
c.3146-13T>C Single submitter hereditary spastic paraplegia 11
c.3146-16G>A Single submitter hereditary spastic paraplegia 11
c.3146-17T>C Single submitter hereditary spastic paraplegia 11
c.3146-18C>T Single submitter hereditary spastic paraplegia 11
c.3146-19A>G Single submitter hereditary spastic paraplegia 11
c.3146-20C>T Single submitter hereditary spastic paraplegia 11
c.3146-20del Single submitter hereditary spastic paraplegia 11
c.3146-4C>T Single submitter hereditary spastic paraplegia 11
c.3291+12A>T Single submitter hereditary spastic paraplegia 11
c.3291+13C>G Single submitter hereditary spastic paraplegia 11
c.3291+14T>C Single submitter hereditary spastic paraplegia 11
c.3291+16T>C Single submitter hereditary spastic paraplegia 11
c.3291+16T>G Single submitter hereditary spastic paraplegia 11
c.3291+20A>G Single submitter hereditary spastic paraplegia 11
c.3291+8T>C Single submitter hereditary spastic paraplegia 11
c.3291+9A>G Single submitter hereditary spastic paraplegia 11
c.3292-10_3292-9insG Single submitter hereditary spastic paraplegia 11
c.3292-12T>C Single submitter hereditary spastic paraplegia 11
c.3292-13T>C Single submitter hereditary spastic paraplegia 11
c.3292-16C>G Single submitter hereditary spastic paraplegia 11
c.3292-16C>T Single submitter hereditary spastic paraplegia 11
c.3292-287A>C Single submitter
c.3292-4T>G Single submitter hereditary spastic paraplegia 11
c.3292-5C>T Single submitter hereditary spastic paraplegia 11
c.3292-6A>C Single submitter hereditary spastic paraplegia 11
c.3292-7T>C Single submitter hereditary spastic paraplegia 11
c.3453+10T>C Single submitter hereditary spastic paraplegia 11
c.3453+10T>G Single submitter hereditary spastic paraplegia 11
c.3453+14G>A Single submitter hereditary spastic paraplegia 11
c.3453+17G>T Single submitter hereditary spastic paraplegia 11
c.3453+19C>G Single submitter hereditary spastic paraplegia 11

Uncertain significance 1437

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

c.1735+4A>G Multiple submitters amyotrophic lateral sclerosis type 5
c.2620+4A>C Multiple submitters hereditary spastic paraplegia 11
c.2620+6T>C Multiple submitters Inborn genetic diseases
c.2834+5_2834+7del Multiple submitters hereditary spastic paraplegia 11
c.2834+6A>G Multiple submitters hereditary spastic paraplegia 11
c.3039-10T>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
c.3453+4C>T Multiple submitters hereditary spastic paraplegia 11
c.3892+5A>C Multiple submitters hereditary spastic paraplegia 11
c.442+5G>T Multiple submitters hereditary spastic paraplegia 11
c.4434+3G>A Multiple submitters hereditary spastic paraplegia 11
c.4636-3A>G Multiple submitters Inborn genetic diseases
c.6006+3A>G Multiple submitters hereditary spastic paraplegia 11
c.6477+6_6477+8del Multiple submitters hereditary spastic paraplegia 11
c.6755-3C>G Multiple submitters hereditary spastic paraplegia 11
c.7000-8_7000-4del Multiple submitters Inborn genetic diseases
p.Ala1059Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala10Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala10Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala11Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala1237Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala1298Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1305Gly Multiple submitters hereditary spastic paraplegia ⚠
p.Ala1366Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala1406Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1474Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1568Thr Multiple submitters hereditary spastic paraplegia 11
p.Ala1586Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala1687Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1693Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1909Thr Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala1918Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala2142Thr Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Ala21Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala2238Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2288_Gln2289insHis Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Ala2338Val Multiple submitters hereditary spastic paraplegia 11
p.Ala239Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala2442Thr Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ala593Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala854Val Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Ala8Val Multiple submitters Inborn genetic diseases ⚠
p.Arg1196Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1196His Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Arg1207Gln Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg1207Trp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg1334Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Arg1805Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1805His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg1821Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1884Cys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg1884His Multiple submitters Inborn genetic diseases ⚠
p.Arg1884Leu Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg1896Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Arg1899Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1899Trp Multiple submitters hereditary spastic paraplegia ⚠
p.Arg1992Gln Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Arg2021Trp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2031Gln Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Arg2031Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg2034Gln Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2059Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg2059Trp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2093Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2161Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg2168Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2209Cys Multiple submitters hereditary spastic paraplegia 11
p.Arg2209His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2211Cys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2229Gln Multiple submitters Inborn genetic diseases
p.Arg2229Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg2240Cys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2240His Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Arg2286Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Arg2286Pro Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2293Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Arg2318Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2318His Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Arg2330Gln Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg2330Trp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg24Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg336Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Arg44Trp Multiple submitters hereditary spastic paraplegia ⚠
p.Arg540Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Arg540His Multiple submitters Inborn genetic diseases ⚠
p.Arg769Cys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg769His Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Arg77His Multiple submitters Inborn genetic diseases ⚠
p.Arg815Gly Multiple submitters ⚠
p.Arg890His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg93His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg966Cys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Arg966His Multiple submitters Inborn genetic diseases ⚠
p.Asn110Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn110Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1168Lys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asn1285Asp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asn1369Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Asn1382Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn161Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1657Ser Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Asn1702Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Asn1737Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1879His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asn1989Ser Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asn2075Thr Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asn2170del Multiple submitters hereditary spastic paraplegia 11
p.Asn2310His Multiple submitters Inborn genetic diseases ⚠
p.Asn2397His Multiple submitters Inborn genetic diseases
p.Asn2425Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn278Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Asn324His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asn376Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn397Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn397Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn521Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn620Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn767Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn979Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp1112Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp144Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1600Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1947Glu Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp2010Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp2015Asn Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp2102Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp2253Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp2342Asn Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp269Asn Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp317Asn Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp390Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp663Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp731Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp837His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Asp923Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp973His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Cys1283Tyr Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Cys1559Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Cys1559Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Cys1866Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys190Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys1914Phe Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Cys2006Tyr Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Cys2210Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Cys246Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Cys429Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys959Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Gln1042Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1133His Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gln1232Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gln1330Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln145Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1601Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln395Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln461His Multiple submitters Inborn genetic diseases ⚠
p.Gln50His Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Gln716Lys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gln845Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln904Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln906Arg Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Glu112Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1195Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1295Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1308Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1443Lys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu1580Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu1628Gln Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu1867Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1874Asp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu2060Asp Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Glu2154Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu2154Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu2233Lys Multiple submitters amyotrophic lateral sclerosis type 5
p.Glu2236Gln Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu2417Ter Multiple submitters hereditary spastic paraplegia 11
p.Glu36Lys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu426Lys Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu444Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu534Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu5Asp Multiple submitters hereditary spastic paraplegia ⚠
p.Glu5Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu5Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu703Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu743Gly Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Glu774Ala Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly1163Val Multiple submitters hereditary spastic paraplegia 11
p.Gly1206Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1479Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly15Asp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly1830Asp Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly1883Glu Multiple submitters Inborn genetic diseases
p.Gly2005Ser Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Gly2110Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly2157Glu Multiple submitters Inborn genetic diseases
p.Gly2165Ser Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly2317Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Gly2434Ala Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly2443fs Multiple submitters hereditary spastic paraplegia 11
p.Gly312Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Gly375Val Multiple submitters Inborn genetic diseases ⚠
p.Gly459= Multiple submitters amyotrophic lateral sclerosis type 5
p.Gly536Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly6Ala Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Gly76Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly76Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly968Ala Multiple submitters hereditary spastic paraplegia 11 ⚠
p.His1658Tyr Multiple submitters Inborn genetic diseases ⚠
p.His1717Arg Multiple submitters Inborn genetic diseases ⚠
p.His1954Tyr Multiple submitters Inborn genetic diseases ⚠
p.His2123Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.His2131Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.His2143Pro Multiple submitters hereditary spastic paraplegia 11 ⚠
p.His2180Leu Multiple submitters hereditary spastic paraplegia 11
p.His2303Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.His235Tyr Multiple submitters Inborn genetic diseases ⚠
p.His2388Gln Multiple submitters Inborn genetic diseases ⚠
p.His2418Arg Multiple submitters hereditary spastic paraplegia 11
p.His368Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.His403Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.His671Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.His86Asp Multiple submitters hereditary spastic paraplegia ⚠
p.His989Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Ile1240Thr Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile1250Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile1359Val Multiple submitters Inborn genetic diseases ⚠
p.Ile142Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1469Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile149Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1660Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1666Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1705Val Multiple submitters hereditary spastic paraplegia ⚠
p.Ile1806Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1882Phe Multiple submitters hereditary spastic paraplegia 11
p.Ile1882Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1931Asn Multiple submitters Inborn genetic diseases
p.Ile1931Met Multiple submitters Inborn genetic diseases ⚠
p.Ile212Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile2136Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile2166Thr Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Ile2207Met Multiple submitters Inborn genetic diseases ⚠
p.Ile2246Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Ile2246Thr Multiple submitters hereditary spastic paraplegia 11
p.Ile2246Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile2350Val Multiple submitters Inborn genetic diseases ⚠
p.Ile2423Ser Multiple submitters hereditary spastic paraplegia 11
p.Ile273Met Multiple submitters Inborn genetic diseases ⚠
p.Ile334Thr Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Ile366Ser Multiple submitters Inborn genetic diseases ⚠
p.Ile425Met Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile530Thr Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile530Val Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Ile594Val Multiple submitters Inborn genetic diseases ⚠
p.Ile647Val Multiple submitters Inborn genetic diseases ⚠
p.Ile692Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile696Ser Multiple submitters Inborn genetic diseases ⚠
p.Ile710Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile738Val Multiple submitters Inborn genetic diseases ⚠
p.Ile768Met Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile768Thr Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile897Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Ile925Thr Multiple submitters Inborn genetic diseases
p.Leu1170Ile Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu1203Phe Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu120Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu120Trp Multiple submitters Inborn genetic diseases ⚠
p.Leu1301Ile Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Leu1316Phe Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu1357Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1362Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1517Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu1542Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu1645Phe Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu166Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1776Phe Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu1855Ser Multiple submitters Inborn genetic diseases
p.Leu1857delinsArgSer Multiple submitters Inborn genetic diseases
p.Leu1997Gln Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu2052Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu2101Val Multiple submitters Inborn genetic diseases ⚠
p.Leu2128Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu2264Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu2294Pro Multiple submitters amyotrophic lateral sclerosis type 5 ⚠
p.Leu2401_Glu2406del Multiple submitters hereditary spastic paraplegia 11
p.Leu2401Ser Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu2402fs Multiple submitters Inborn genetic diseases
p.Leu26Pro Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu327Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu354Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu452Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu54Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu636Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Leu728Phe Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu912Val Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Leu962Pro Multiple submitters hereditary spastic paraplegia 11
p.Lys1025Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys121Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2X ⚠
p.Lys1227Arg Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Lys1273Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2X
p.Lys1983Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys2103Glu Multiple submitters hereditary spastic paraplegia 11 ⚠
p.Lys2296Thr Multiple submitters Inborn genetic diseases