VPS13A — 3781 ClinVar variants

All ClinVar germline VPS13A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 625 flagged for review →

225 Pathogenic · 57 Pathogenic/Likely pathogenic · 205 Likely pathogenic · 93 Conflicting · 209 Benign · 69 Benign/Likely benign · 2005 Likely benign · 918 Uncertain significance

Full VPS13A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 625

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

Predictors vs ClinVar 1

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

VPS13A p.Ala2679Thr Pathogenic No assertion criteria
VPS13A-related neurodegenerative disease

Predictors agree, ClinVar conflicts 43

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

VPS13A p.Ala3005Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Arg1962Cys Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Arg3092Cys Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Asn1929Ser Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Asn259Asp Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Asn3150Ser Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Glu1677Lys Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Glu2360Lys Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Gly2955Asp Conflicting Single submitter
Inborn genetic diseases
VPS13A p.His2154Arg Conflicting Single submitter
Inborn genetic diseases
VPS13A p.His2324Arg Conflicting Single submitter
Inborn genetic diseases
VPS13A p.His2618Arg Conflicting Single submitter
Inborn genetic diseases
VPS13A p.His2742Arg Conflicting Single submitter
Inborn genetic diseases
VPS13A p.His324Arg Conflicting Single submitter
Inborn genetic diseases
VPS13A p.His336Arg Conflicting Single submitter
VPS13A p.His541Arg Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ile1110Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ile1168Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ile2486Thr Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Ile2799Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ile499Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ile825Met Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Leu2062Phe Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Leu2481Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Lys124Asn Conflicting Single submitter
VPS13A p.Met1245Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Met1505Thr Conflicting Single submitter
VPS13A p.Phe1160Val Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ser1357Ile Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ser1749Leu Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Ser629Thr Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Ser734Asn Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Thr1683Ala Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Thr1865Ile Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Tyr1587Cys Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Tyr1824Cys Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Val1312Ile Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Val1872Ile Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Val2181Ile Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Val2208Leu Conflicting Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Val2425Ile Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Val384Met Conflicting Single submitter
Inborn genetic diseases
VPS13A p.Val834Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 540

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 540

VPS13A p.Ala2564Thr Uncertain significance Multiple submitters
VPS13A p.Arg1098Lys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Arg1268Gln Uncertain significance Multiple submitters
VPS13A p.Arg1386His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Arg169Trp Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Arg1962His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Arg204Cys Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Arg208Gln Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Arg2604Cys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Arg2604His Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Arg2957Lys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Arg685Leu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asn2025Ser Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Asn2635Lys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asn3043Ser Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Asn3059Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asn697Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asn747Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asn944Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asp1344Gly Uncertain significance Multiple submitters
VPS13A p.Asp1952Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asp2940Glu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asp448His Uncertain significance Multiple submitters
VPS13A p.Asp923Asn Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Asp942Val Uncertain significance Multiple submitters
VPS13A p.Cys2377Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Gln1604Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Gln2249Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Gln2794Glu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Gln42His Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Gln712His Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Glu120Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Glu1769Asp Uncertain significance Multiple submitters
VPS13A p.Glu2483Gly Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Glu3155Asp Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Glu444Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Glu916Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Gly1371Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Gly1445Ser Uncertain significance Multiple submitters
VPS13A p.His1464Asn Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.His2657Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.His2802Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.His3124Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.His493Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.His541Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.His677Tyr Uncertain significance Multiple submitters
VPS13A p.Ile1049Thr Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Ile1065Val Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Ile1107Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile1156Val Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Ile1213Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile1257Val Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Ile1339Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile1804Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile244Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile2524Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile2549Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile2975Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ile584Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Leu1453Ile Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Leu2432Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Leu302Phe Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Leu554Phe Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Lys1672Glu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Lys2373Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Lys2562Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Lys2572Arg Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Lys2793Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Lys39Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Lys806Glu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Met1084Val Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Met1142Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Pro133Leu Uncertain significance Multiple submitters
VPS13A p.Pro1609Leu Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Pro1612Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Pro1711Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Pro2366Ser Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Pro2602Leu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Pro378Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Pro508Leu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ser1017Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ser1251Arg Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ser1867Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ser563Pro Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ser665Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ser684Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr1108Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr1162Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr1377Ala Uncertain significance Multiple submitters
VPS13A p.Thr138Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr1529Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr1922Asn Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Thr2403Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr2540Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr2599Ala Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr3101Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr404Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr480Ala Uncertain significance Multiple submitters
VPS13A p.Thr667Pro Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Thr799Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Thr814Ala Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Thr963Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Tyr2124Cys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Tyr2546Phe Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Tyr365Cys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Val1161Leu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Val263Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Val321Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Val500Phe Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Val798Leu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ala1022Pro Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala1095Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala1133Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala1358Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala1500Val Uncertain significance Single submitter
VPS13A p.Ala1530Val Uncertain significance Single submitter
VPS13A p.Ala1540Val Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala1667Val Uncertain significance Single submitter
VPS13A p.Ala1747Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala1747Val Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala1863Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala2141Val Uncertain significance Single submitter
VPS13A p.Ala2351Thr Uncertain significance Single submitter
VPS13A p.Ala2411Ser Uncertain significance Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Ala2525Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala2730Val Uncertain significance Single submitter
VPS13A p.Ala287Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala2927Val Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala2948Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala3005Thr Uncertain significance Single submitter
VPS13A p.Ala309Thr Uncertain significance Single submitter
VPS13A p.Ala332Thr Uncertain significance Single submitter
VPS13A p.Ala730Val Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Ala928Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg1386Cys Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg1386Pro Uncertain significance Single submitter
VPS13A p.Arg1471Gln Uncertain significance Single submitter
VPS13A p.Arg1750Cys Uncertain significance Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Arg1750Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg1921Gln Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg2068Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg2223Cys Uncertain significance Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Arg2234Gln Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg2381Cys Uncertain significance Single submitter
VPS13A p.Arg2381His Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg254Cys Uncertain significance Single submitter
VPS13A p.Arg266Cys Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg266His Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Arg2786Thr Uncertain significance Single submitter
VPS13A p.Arg3026Thr Uncertain significance Single submitter

Predictors split 41

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

VPS13A p.Ala1518Glu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.His2233Gln Uncertain significance Multiple submitters
VPS13A p.Ile987Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Met2217Val Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Phe1321Leu Uncertain significance Multiple submitters
VPS13A-related neurodegenerative disease
VPS13A p.Phe2052Leu Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Pro2027Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS13A p.Ala928Asp Uncertain significance Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Arg1993Cys Uncertain significance Single submitter
VPS13A p.Arg2223Ser Uncertain significance Single submitter
VPS13A p.Arg2623Gln Uncertain significance Single submitter
VPS13A p.Asn1298Ser Uncertain significance Single submitter
VPS13A p.Asn40His Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Glu2633Val Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Gly1755Asp Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Gly2287Arg Uncertain significance Single submitter
VPS13A p.Lys1953Asn Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Lys2563Glu Likely benign Single submitter
Inborn genetic diseases
VPS13A p.Lys292Asn Uncertain significance Single submitter
VPS13A p.Met1267Thr Uncertain significance Single submitter
VPS13A p.Met2856Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Phe1896Ser Uncertain significance Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Phe2024Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Phe2414Leu Uncertain significance Single submitter
VPS13A p.Phe2492Leu Uncertain significance Single submitter
VPS13A p.Phe2883Leu Uncertain significance Single submitter
VPS13A-related neurodegenerative disease
VPS13A p.Phe2995Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Phe3021Ile Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Phe3041Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS13A p.Phe756Leu Uncertain significance Single submitter
VPS13A p.Phe764Ser Uncertain significance Single submitter
VPS13A p.Ser1987Arg Uncertain significance Single submitter
VPS13A p.Ser2430Arg Uncertain significance Single submitter
VPS13A p.Ala2412Thr Uncertain significance No assertion criteria
VPS13A-related neurodegenerative disease
VPS13A p.Glu2633Lys Likely benign No assertion criteria
VPS13A p.Gly1474Val Uncertain significance No assertion criteria
VPS13A-related neurodegenerative disease
VPS13A p.Phe1234Leu Uncertain significance No assertion criteria
VPS13A-related disorder
VPS13A p.Phe296Leu Uncertain significance No assertion criteria
VPS13A-related neurodegenerative disease
VPS13A p.Thr2297Pro Uncertain significance No assertion criteria
VPS13A-related neurodegenerative disease
VPS13A p.Tyr2584His Uncertain significance No assertion criteria
VPS13A-related neurodegenerative disease
VPS13A p.Tyr2648Cys Uncertain significance No assertion criteria
VPS13A-related neurodegenerative disease

All VPS13A variants

Pathogenic 225

c.144+1G>C Multiple submitters VPS13A-related neurodegenerative disease
c.1596-2A>G Multiple submitters VPS13A-related neurodegenerative disease
c.4242+1G>T Multiple submitters VPS13A-related neurodegenerative disease
p.Arg1273Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Arg1471Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Arg1921Ter Multiple submitters
p.Arg1961Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Arg267Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Arg3037Ter Multiple submitters VPS13A-related disorder
p.Arg3135Ter Multiple submitters VPS13A-related disorder
p.Arg731Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Arg776Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Arg865Ter Multiple submitters VPS13A-related disorder
p.Gln113Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Gln1640Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Glu1078Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Glu1970fs Multiple submitters VPS13A-related neurodegenerative disease
p.Leu466_Tyr467insTer Multiple submitters VPS13A-related neurodegenerative disease
p.Leu88_Leu89insTer Multiple submitters
p.Phe2719fs Multiple submitters VPS13A-related neurodegenerative disease
p.Pro2020fs Multiple submitters VPS13A-related disorder
p.Ser2095fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ser2131Ter Multiple submitters
p.Trp2335Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Trp2347fs Multiple submitters VPS13A-related neurodegenerative disease
p.Tyr1442Ter Multiple submitters
p.Val1187fs Multiple submitters VPS13A-related disorder
c.144+1G>A Single submitter VPS13A-related neurodegenerative disease
c.145-2A>T Single submitter
c.2512+1G>A Single submitter VPS13A-related neurodegenerative disease
c.2824+1G>A Single submitter
c.5574+1del Single submitter
c.5991+1G>A Single submitter VPS13A-related neurodegenerative disease
c.7155+1del Single submitter
c.755-1G>T Single submitter VPS13A-related neurodegenerative disease
c.9078-4708_9078-4707del Single submitter primray hypomagnesemia with secondary hypocalcemia
c.9276-2A>C Single submitter
p.Ala1358fs Single submitter
p.Ala1500fs Single submitter
p.Ala1684fs Single submitter
p.Ala2328fs Single submitter
p.Ala2747_Phe2748insTer Single submitter
p.Arg1268Ter Single submitter
p.Arg1967fs Single submitter VPS13A-related neurodegenerative disease
p.Arg1969fs Single submitter
p.Arg208Ter Single submitter VPS13A-related neurodegenerative disease
p.Arg2114Ter Single submitter
p.Arg2457fs Single submitter
p.Arg2957fs Single submitter
p.Arg3129fs Single submitter
p.Arg3143fs Single submitter
p.Arg628fs Single submitter
p.Arg920fs Single submitter
p.Asn1143fs Single submitter
p.Asn1763fs Single submitter VPS13A-related neurodegenerative disease
p.Asn1929fs Single submitter
p.Asn2372fs Single submitter
p.Asn2418fs Single submitter
p.Asn285fs Single submitter
p.Asn2950fs Single submitter
p.Asn441fs Single submitter
p.Asp1031fs Single submitter
p.Asp1132fs Single submitter
p.Asp1141fs Single submitter
p.Asp1402fs Single submitter
p.Asp1627fs Single submitter
p.Asp17fs Single submitter
p.Asp3085fs Single submitter
p.Asp779fs Single submitter
p.Cys1456_Ile1457insTer Single submitter
p.Cys1456fs Single submitter
p.Cys1583_Glu1584delinsTer Single submitter
p.Cys2185Ter Single submitter
p.Cys344Ter Single submitter
p.Gln1062Ter Single submitter
p.Gln1068fs Single submitter
p.Gln1222Ter Single submitter
p.Gln1250Ter Single submitter
p.Gln1305Ter Single submitter
p.Gln1315Ter Single submitter
p.Gln1997Ter Single submitter
p.Gln2147Ter Single submitter
p.Gln2206fs Single submitter
p.Gln2206Ter Single submitter
p.Gln2529fs Single submitter
p.Gln2855fs Single submitter
p.Gln360Ter Single submitter
p.Gln660Ter Single submitter
p.Gln712Ter Single submitter VPS13A-related neurodegenerative disease
p.Gln717Ter Single submitter
p.Gln820fs Single submitter
p.Glu1018fs Single submitter
p.Glu103fs Single submitter
p.Glu1281fs Single submitter
p.Glu1429fs Single submitter
p.Glu1677fs Single submitter
p.Glu1678fs Single submitter
p.Glu1790fs Single submitter
p.Glu2054Ter Single submitter
p.Glu2267fs Single submitter
p.Glu2360Ter Single submitter
p.Glu2731fs Single submitter
p.Glu2767fs Single submitter
p.Glu3029fs Single submitter
p.Glu3115Ter Single submitter
p.Glu367Ter Single submitter
p.Glu388Ter Single submitter
p.Glu45fs Single submitter
p.Glu603Ter Single submitter
p.Gly1154fs Single submitter
p.Gly1478fs Single submitter
p.Gly2797fs Single submitter
p.Gly2871_Leu2872insTer Single submitter
p.Gly2926fs Single submitter
p.Gly914fs Single submitter
p.His1968fs Single submitter
p.His2212fs Single submitter
p.Ile1172fs Single submitter
p.Ile1257fs Single submitter
p.Ile1657fs Single submitter
p.Ile1709fs Single submitter
p.Ile1791fs Single submitter
p.Ile1833fs Single submitter
p.Ile2547fs Single submitter
p.Ile398_Thr399insTer Single submitter VPS13A-related neurodegenerative disease
p.Ile701fs Single submitter
p.Leu1200fs Single submitter
p.Leu1686fs Single submitter
p.Leu1841Ter Single submitter
p.Leu1853Ter Single submitter
p.Leu1856Ter Single submitter
p.Leu1899fs Single submitter
p.Leu2194Ter Single submitter
p.Leu2386fs Single submitter
p.Leu27fs Single submitter
p.Leu2909fs Single submitter
p.Leu373fs Single submitter
p.Leu434_Trp435insTer Single submitter
p.Leu465_Leu466insTer Single submitter
p.Leu510fs Single submitter
p.Leu521Ter Single submitter
p.Leu88fs Single submitter
p.Leu930fs Single submitter
p.Leu984Ter Single submitter VPS13A-related neurodegenerative disease
p.Lys1076fs Single submitter
p.Lys124_Val125insTer Single submitter
p.Lys1809fs Single submitter
p.Lys2120Ter Single submitter
p.Lys2242fs Single submitter
p.Lys2669fs Single submitter VPS13A-related neurodegenerative disease
p.Lys3074Ter Single submitter
p.Lys318Ter Single submitter
p.Lys370Ter Single submitter
p.Lys372fs Single submitter
p.Lys623fs Single submitter
p.Lys781fs Single submitter
p.Lys945Ter Single submitter
p.Met1192fs Single submitter
p.Met1485fs Single submitter
p.Met184fs Single submitter
p.Met3061fs Single submitter
p.Phe1332fs Single submitter
p.Phe139fs Single submitter
p.Phe2248fs Single submitter
p.Phe2683fs Single submitter
p.Phe55fs Single submitter
p.Pro100_Leu101insTer Single submitter
p.Pro1255fs Single submitter
p.Pro1827fs Single submitter
p.Pro2602= Single submitter
p.Pro3120fs Single submitter
p.Pro70fs Single submitter
p.Ser1167fs Single submitter VPS13A-related neurodegenerative disease
p.Ser157fs Single submitter
p.Ser1817Ter Single submitter
p.Ser2092fs Single submitter
p.Ser2095Ter Single submitter
p.Ser2337_Leu2338insTer Single submitter
p.Ser25fs Single submitter
p.Ser2761Ter Single submitter VPS13A-related neurodegenerative disease
p.Ser2781fs Single submitter
p.Ser351Ter Single submitter
p.Ser438Ter Single submitter
p.Ser600fs Single submitter
p.Ser751fs Single submitter
p.Ser802fs Single submitter
p.Ser819Ter Single submitter
p.Ser839Ter Single submitter
p.Ser875Ter Single submitter
p.Thr1352fs Single submitter
p.Thr1692fs Single submitter
p.Thr1887fs Single submitter
p.Thr2201_Tyr2202insTer Single submitter
p.Thr2511_Tyr2512insTer Single submitter
p.Thr2606fs Single submitter
p.Thr2980fs Single submitter
p.Thr3084fs Single submitter
p.Thr714fs Single submitter
p.Trp1303Ter Single submitter
p.Trp216Ter Single submitter
p.Trp2449Ter Single submitter
p.Trp350Ter Single submitter
p.Tyr2119Ter Single submitter
p.Tyr2123fs Single submitter VPS13A-related neurodegenerative disease
p.Tyr2292_Gln2293delinsTer Single submitter
p.Tyr2323Ter Single submitter
p.Tyr2768fs Single submitter
p.Tyr2832fs Single submitter
p.Tyr2885fs Single submitter
p.Tyr2888Ter Single submitter
p.Tyr365Ter Single submitter
p.Tyr922Ter Single submitter
p.Val1102fs Single submitter
p.Val1161fs Single submitter
p.Val1742fs Single submitter
p.Val1832fs Single submitter
p.Val252fs Single submitter
p.Val2706fs Single submitter
p.Val3123fs Single submitter
p.Val395_Phe396insTer Single submitter VPS13A-related neurodegenerative disease
p.Val805fs Single submitter
p.Ala2679Thr No assertion criteria VPS13A-related neurodegenerative disease ⚠
p.Ile90Lys No assertion criteria VPS13A-related neurodegenerative disease
p.Trp435Ter No assertion criteria VPS13A-related neurodegenerative disease
p.Tyr224_Ser226delinsTer No assertion criteria VPS13A-related neurodegenerative disease

Pathogenic/Likely pathogenic 57

c.1596-1G>C Multiple submitters VPS13A-related neurodegenerative disease
c.187+1dup Multiple submitters VPS13A-related neurodegenerative disease
c.4956+1G>A Multiple submitters VPS13A-related disorder
c.555+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.7156-2A>T Multiple submitters VPS13A-related neurodegenerative disease
c.7157_7172del Multiple submitters VPS13A-related neurodegenerative disease
c.7419+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.755-1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.755-2A>G Multiple submitters VPS13A-related neurodegenerative disease
c.9276-2A>T Multiple submitters VPS13A-related neurodegenerative disease
p.Ala332fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ala969fs Multiple submitters VPS13A-related neurodegenerative disease
p.Arg1297Ter Multiple submitters Inborn genetic diseases
p.Arg2032Ter Multiple submitters VPS13A-related disorder
p.Arg2234Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Arg2579fs Multiple submitters VPS13A-related neurodegenerative disease
p.Arg2623Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Asn73fs Multiple submitters VPS13A-related neurodegenerative disease
p.Asp1483fs Multiple submitters VPS13A-related neurodegenerative disease
p.Cys1979fs Multiple submitters VPS13A-related neurodegenerative disease
p.Gln1053Ter Multiple submitters VPS13A-related disorder
p.Gln1188Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Gln1634Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Gln2293Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Gln2358Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Gln2496Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Gln985Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Glu2886Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Glu3032Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Glu3131fs Multiple submitters VPS13A-related neurodegenerative disease
p.Glu3144fs Multiple submitters VPS13A-related disorder
p.Gly2281Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Gly3023fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ile1152fs Multiple submitters VPS13A-related neurodegenerative disease
p.Leu1289fs Multiple submitters VPS13A-related neurodegenerative disease
p.Leu2161fs Multiple submitters VPS13A-related neurodegenerative disease
p.Leu2405Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Leu782fs Multiple submitters VPS13A-related neurodegenerative disease
p.Lys1113fs Multiple submitters VPS13A-related neurodegenerative disease
p.Lys752fs Multiple submitters VPS13A-related neurodegenerative disease
p.Phe1565fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ser1324fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ser1416fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ser2136fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ser2792Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Ser375fs Multiple submitters VPS13A-related neurodegenerative disease
p.Ser539Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Ser734fs Multiple submitters VPS13A-related neurodegenerative disease
p.Thr2306fs Multiple submitters VPS13A-related neurodegenerative disease
p.Thr3098fs Multiple submitters VPS13A-related neurodegenerative disease
p.Trp1782Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Trp430Ter Multiple submitters VPS13A-related neurodegenerative disease
p.Trp435fs Multiple submitters VPS13A-related neurodegenerative disease
p.Tyr2447fs Multiple submitters VPS13A-related neurodegenerative disease
p.Tyr3073Ter Multiple submitters
p.Val834fs Multiple submitters VPS13A-related neurodegenerative disease
p.Val905_Val906insTer Multiple submitters VPS13A-related neurodegenerative disease

Likely pathogenic 205

c.188-2A>G Multiple submitters VPS13A-related neurodegenerative disease
c.2037+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.2427+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.2512+2T>C Multiple submitters VPS13A-related neurodegenerative disease
c.2513-2A>T Multiple submitters VPS13A-related neurodegenerative disease
c.3812+2T>C Multiple submitters VPS13A-related neurodegenerative disease
c.386-2A>G Multiple submitters VPS13A-related neurodegenerative disease
c.3961-2A>C Multiple submitters VPS13A-related neurodegenerative disease
c.3961-2A>G Multiple submitters VPS13A-related neurodegenerative disease
c.495+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.5574+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.5830+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.7027-1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.7156-1G>C Multiple submitters VPS13A-related neurodegenerative disease
c.7290-1G>C Multiple submitters VPS13A-related neurodegenerative disease
c.754+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.7652+1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.7653-2A>G Multiple submitters VPS13A-related neurodegenerative disease
c.8668-1G>A Multiple submitters VPS13A-related neurodegenerative disease
c.8744-2A>G Multiple submitters VPS13A-related neurodegenerative disease
c.883-1_892del Multiple submitters VPS13A-related neurodegenerative disease
c.883-1G>C Multiple submitters VPS13A-related neurodegenerative disease
p.Trp2566Ter Multiple submitters VPS13A-related disorder
c.1161+1G>T Single submitter
c.1225-1G>A Single submitter VPS13A-related neurodegenerative disease
c.1358-2A>G Single submitter
c.2037+1G>T Single submitter
c.2038-1G>A Single submitter
c.2170+1G>A Single submitter VPS13A-related neurodegenerative disease
c.2170+2del Single submitter VPS13A-related neurodegenerative disease
c.2170+2T>C Single submitter VPS13A-related neurodegenerative disease
c.2513-1G>A Single submitter VPS13A-related neurodegenerative disease
c.2513-35_2529del Single submitter VPS13A-related neurodegenerative disease
c.2667+1G>T Single submitter
c.2668-2A>G Single submitter
c.283+2T>G Single submitter
c.2900_2904+5del Single submitter VPS13A-related neurodegenerative disease
c.2904+1G>A Single submitter VPS13A-related neurodegenerative disease
c.2964+2T>C Single submitter
c.3235+1G>A Single submitter
c.3235+1G>T Single submitter
c.3236-2A>G Single submitter
c.3339+1G>A Single submitter VPS13A-related neurodegenerative disease
c.3340-2A>C Single submitter
c.3507+1G>A Single submitter
c.3812+1G>A Single submitter VPS13A-related neurodegenerative disease
c.3812+1G>T Single submitter
c.4115-2A>C Single submitter
c.4242+2dup Single submitter VPS13A-related neurodegenerative disease
c.4243-4_4243-2delinsTTT Single submitter VPS13A-related neurodegenerative disease
c.4413-1G>A Single submitter
c.4413-205_4579del Single submitter
c.4863+2T>C Single submitter VPS13A-related neurodegenerative disease
c.4957-2A>G Single submitter
c.5415+1G>C Single submitter
c.5415+2T>A Single submitter
c.555+2T>A Single submitter
c.556-2A>G Single submitter
c.5831-1G>A Single submitter VPS13A-related neurodegenerative disease
c.5991+1G>T Single submitter VPS13A-related neurodegenerative disease
c.5992-2A>T Single submitter
c.6095+1G>A Single submitter
c.6378+1G>A Single submitter
c.6379-1G>A Single submitter VPS13A-related neurodegenerative disease
c.6379-1G>C Single submitter VPS13A-related neurodegenerative disease
c.6379-2A>G Single submitter
c.6774+1G>A Single submitter
c.6774+2T>C Single submitter
c.6775-2A>C Single submitter VPS13A-related neurodegenerative disease
c.696+2T>G Single submitter
c.7155+2T>C Single submitter VPS13A-related neurodegenerative disease
c.7420-1G>A Single submitter VPS13A-related neurodegenerative disease
c.7420-2A>C Single submitter
c.754+1G>C Single submitter VPS13A-related neurodegenerative disease
c.754+1G>T Single submitter
c.759_760insTTCAGTATTTTCAGTATTT Single submitter VPS13A-related neurodegenerative disease
c.7806+1G>A Single submitter
c.7806+1G>C Single submitter VPS13A-related neurodegenerative disease
c.7953+1G>A Single submitter VPS13A-related neurodegenerative disease
c.8029_8035+5del Single submitter
c.8035+1G>A Single submitter
c.8036-1G>A Single submitter
c.8105+1G>A Single submitter
c.8106-2A>G Single submitter
c.8211+1G>A Single submitter VPS13A-related neurodegenerative disease
c.8325+1G>T Single submitter
c.8326-2A>G Single submitter VPS13A-related neurodegenerative disease
c.8471_8471+3del Single submitter
c.8471+1G>A Single submitter
c.8554-1G>A Single submitter
c.8554-1G>C Single submitter
c.8554-2A>T Single submitter
c.8667+2T>C Single submitter VPS13A-related neurodegenerative disease
c.8668-1G>C Single submitter
c.8743+1G>T Single submitter VPS13A-related neurodegenerative disease
c.882+1G>A Single submitter
c.882+2T>G Single submitter
c.883-1G>A Single submitter
c.8907+2T>A Single submitter
c.8907+2T>C Single submitter
c.8953+2C>T Single submitter VPS13A-related neurodegenerative disease
c.8954-2A>G Single submitter
c.9078-1G>A Single submitter VPS13A-related neurodegenerative disease
c.9078-1G>C Single submitter
c.9189+1G>A Single submitter
c.9190-1G>C Single submitter VPS13A-related neurodegenerative disease
c.9275+1G>A Single submitter
c.9275+1G>T Single submitter VPS13A-related neurodegenerative disease
c.9399+1G>A Single submitter
c.9400-1G>T Single submitter
c.989+2T>G Single submitter
p.Ala1680fs Single submitter VPS13A-related neurodegenerative disease
p.Ala632fs Single submitter VPS13A-related neurodegenerative disease
p.Arg1462Ter Single submitter VPS13A-related neurodegenerative disease
p.Arg1750fs Single submitter VPS13A-related neurodegenerative disease
p.Arg2874Ter Single submitter VPS13A-related neurodegenerative disease
p.Arg346fs Single submitter VPS13A-related neurodegenerative disease
p.Asn150fs Single submitter VPS13A-related neurodegenerative disease
p.Asn1572fs Single submitter VPS13A-related neurodegenerative disease
p.Asn2203_Thr2204insTer Single submitter VPS13A-related neurodegenerative disease
p.Asn2270fs Single submitter VPS13A-related neurodegenerative disease
p.Asn2418Ser Single submitter
p.Asn3043fs Single submitter VPS13A-related neurodegenerative disease
p.Asn3082fs Single submitter VPS13A-related neurodegenerative disease
p.Asn3150_Phe3151insTer Single submitter VPS13A-related disorder
p.Asn548fs Single submitter VPS13A-related neurodegenerative disease
p.Cys3107_Glu3108delinsTer Single submitter VPS13A-related neurodegenerative disease
p.Cys3107fs Single submitter VPS13A-related neurodegenerative disease
p.Cys848_Pro850delinsSerLysIleTer Single submitter VPS13A-related neurodegenerative disease
p.Cys901fs Single submitter
p.Gln1202Ter Single submitter VPS13A-related neurodegenerative disease
p.Gln136Ter Single submitter VPS13A-related neurodegenerative disease
p.Gln2651Ter Single submitter VPS13A-related neurodegenerative disease
p.Gln26Ter Single submitter VPS13A-related neurodegenerative disease
p.Gln3022fs Single submitter VPS13A-related neurodegenerative disease
p.Gln529Ter Single submitter VPS13A-related neurodegenerative disease
p.Glu1019fs Single submitter VPS13A-related neurodegenerative disease
p.Glu1030fs Single submitter VPS13A-related neurodegenerative disease
p.Glu1790Ter Single submitter VPS13A-related neurodegenerative disease
p.Glu2129Ter Single submitter VPS13A-related neurodegenerative disease
p.Glu2737Ter Single submitter
p.Glu282fs Single submitter VPS13A-related neurodegenerative disease
p.Glu2958Ter Single submitter VPS13A-related neurodegenerative disease
p.Glu3108Ter Single submitter VPS13A-related neurodegenerative disease
p.Glu4fs Single submitter VPS13A-related neurodegenerative disease
p.Glu517Ter Single submitter VPS13A-related neurodegenerative disease
p.Glu790Ter Single submitter VPS13A-related neurodegenerative disease
p.Glu893Ter Single submitter VPS13A-related neurodegenerative disease
p.Gly248fs Single submitter VPS13A-related neurodegenerative disease
p.Ile160fs Single submitter VPS13A-related neurodegenerative disease
p.Ile1658fs Single submitter VPS13A-related neurodegenerative disease
p.Ile2035fs Single submitter VPS13A-related neurodegenerative disease
p.Ile96_Tyr98delinsLysLysTer Single submitter VPS13A-related neurodegenerative disease
p.Leu1165fs Single submitter VPS13A-related neurodegenerative disease
p.Leu1389fs Single submitter VPS13A-related neurodegenerative disease
p.Leu2355fs Single submitter VPS13A-related neurodegenerative disease
p.Leu2757Ter Single submitter VPS13A-related neurodegenerative disease
p.Leu2765_Tyr2766insTer Single submitter VPS13A-related neurodegenerative disease
p.Leu481Ter Single submitter VPS13A-related neurodegenerative disease
p.Leu829fs Single submitter VPS13A-related neurodegenerative disease
p.Lys1038fs Single submitter VPS13A-related neurodegenerative disease
p.Lys1635fs Single submitter VPS13A-related neurodegenerative disease
p.Lys201fs Single submitter VPS13A-related neurodegenerative disease
p.Lys2930_Val2932delinsThrLeuSerThrTyrAlaThrIleAlaAlaMetThrMetAspAlaTrpSerLeuAlaProTer Single submitter VPS13A-related neurodegenerative disease
p.Lys411fs Single submitter VPS13A-related neurodegenerative disease
p.Met1Leu Single submitter VPS13A-related neurodegenerative disease
p.Met1Lys Single submitter VPS13A-related neurodegenerative disease
p.Met3088Arg Single submitter VPS13A-related neurodegenerative disease
p.Met562fs Single submitter VPS13A-related neurodegenerative disease
p.Phe1171fs Single submitter VPS13A-related neurodegenerative disease
p.Phe2254fs Single submitter VPS13A-related neurodegenerative disease
p.Phe3151Ter Single submitter VPS13A-related disorder
p.Pro1023fs Single submitter VPS13A-related neurodegenerative disease
p.Pro2773fs Single submitter VPS13A-related disorder
p.Pro804fs Single submitter VPS13A-related neurodegenerative disease
p.Ser1249fs Single submitter VPS13A-related neurodegenerative disease
p.Ser1385Ter Single submitter VPS13A-related neurodegenerative disease
p.Ser1452_Leu1453insTer Single submitter VPS13A-related neurodegenerative disease
p.Ser1452Ter Single submitter VPS13A-related neurodegenerative disease
p.Ser1703Ter Single submitter VPS13A-related neurodegenerative disease
p.Ser2247fs Single submitter VPS13A-related neurodegenerative disease
p.Ser2273Ter Single submitter VPS13A-related neurodegenerative disease
p.Ser519fs Single submitter VPS13A-related neurodegenerative disease
p.Ser5Ter Single submitter VPS13A-related neurodegenerative disease
p.Ser736fs Single submitter VPS13A-related neurodegenerative disease
p.Thr1162fs Single submitter VPS13A-related neurodegenerative disease
p.Thr2187fs Single submitter VPS13A-related neurodegenerative disease
p.Thr2276fs Single submitter VPS13A-related neurodegenerative disease
p.Thr2608fs Single submitter VPS13A-related neurodegenerative disease
p.Thr597_Val598insTer Single submitter VPS13A-related neurodegenerative disease
p.Trp2099Ter Single submitter VPS13A-related neurodegenerative disease
p.Trp2165Ter Single submitter VPS13A-related neurodegenerative disease
p.Trp2460Ter Single submitter VPS13A-related disorder
p.Trp331Ter Single submitter VPS13A-related neurodegenerative disease
p.Trp437Ter Single submitter VPS13A-related neurodegenerative disease
p.Tyr1824fs Single submitter VPS13A-related neurodegenerative disease
p.Tyr2031Ter Single submitter VPS13A-related neurodegenerative disease
p.Tyr2202Ter Single submitter VPS13A-related neurodegenerative disease
p.Tyr2941Ter Single submitter VPS13A-related neurodegenerative disease
p.Val2818fs Single submitter VPS13A-related neurodegenerative disease
p.Val2968fs Single submitter VPS13A-related neurodegenerative disease
p.Val578fs Single submitter VPS13A-related disorder
p.Val735fs Single submitter VPS13A-related neurodegenerative disease
p.Asn3150Ter No assertion criteria VPS13A-related disorder
p.Lys2681Ter No assertion criteria VPS13A-related neurodegenerative disease

Conflicting classifications of pathogenicity 93

c.101-14T>G Single submitter VPS13A-related neurodegenerative disease
c.1785+7A>G Single submitter VPS13A-related neurodegenerative disease
c.1900+9C>T Single submitter VPS13A-related neurodegenerative disease
c.2170+13T>C Single submitter VPS13A-related neurodegenerative disease
c.2667+11C>T Single submitter VPS13A-related neurodegenerative disease
c.2964+5G>A Single submitter VPS13A-related neurodegenerative disease
c.3813-6T>C Single submitter VPS13A-related neurodegenerative disease
c.496-9C>T Single submitter VPS13A-related neurodegenerative disease
c.555+4T>G Single submitter
c.6379-12T>G Single submitter VPS13A-related neurodegenerative disease
c.755-7T>C Single submitter VPS13A-related neurodegenerative disease
c.8212-15G>A Single submitter VPS13A-related neurodegenerative disease
c.8325+1G>A Single submitter VPS13A-related neurodegenerative disease
c.8472-11G>T Single submitter VPS13A-related neurodegenerative disease
c.8667+6A>G Single submitter
c.9077+8C>G Single submitter VPS13A-related neurodegenerative disease
c.989+28del Single submitter
p.Ala3005Val Single submitter Inborn genetic diseases ⚠
p.Ala309= Single submitter VPS13A-related neurodegenerative disease
p.Arg1962Cys Single submitter VPS13A-related neurodegenerative disease ⚠
p.Arg2714= Single submitter VPS13A-related neurodegenerative disease
p.Arg3040Gln Single submitter Inborn genetic diseases
p.Arg3092Cys Single submitter Inborn genetic diseases ⚠
p.Asn1094= Single submitter VPS13A-related neurodegenerative disease
p.Asn1929Ser Single submitter Inborn genetic diseases ⚠
p.Asn259Asp Single submitter VPS13A-related neurodegenerative disease ⚠
p.Asn3150Ser Single submitter Inborn genetic diseases ⚠
p.Gln2640= Single submitter VPS13A-related neurodegenerative disease
p.Gln2841Arg Single submitter Inborn genetic diseases
p.Glu1677Lys Single submitter Inborn genetic diseases ⚠
p.Glu2349= Single submitter
p.Glu2360Lys Single submitter VPS13A-related neurodegenerative disease ⚠
p.Gly1755= Single submitter VPS13A-related neurodegenerative disease
p.Gly2955Asp Single submitter Inborn genetic diseases ⚠
p.His2154Arg Single submitter Inborn genetic diseases ⚠
p.His2280= Single submitter VPS13A-related neurodegenerative disease
p.His2324Arg Single submitter Inborn genetic diseases ⚠
p.His2618Arg Single submitter Inborn genetic diseases ⚠
p.His2742Arg Single submitter Inborn genetic diseases ⚠
p.His3078= Single submitter VPS13A-related neurodegenerative disease
p.His324Arg Single submitter Inborn genetic diseases ⚠
p.His336Arg Single submitter ⚠
p.His541Arg Single submitter Inborn genetic diseases ⚠
p.Ile1110Val Single submitter Inborn genetic diseases ⚠
p.Ile1168Val Single submitter Inborn genetic diseases ⚠
p.Ile1888Ser Single submitter Inborn genetic diseases
p.Ile2486Thr Single submitter VPS13A-related neurodegenerative disease ⚠
p.Ile2799Val Single submitter Inborn genetic diseases ⚠
p.Ile499Val Single submitter Inborn genetic diseases ⚠
p.Ile825Met Single submitter VPS13A-related neurodegenerative disease ⚠
p.Leu1909= Single submitter VPS13A-related neurodegenerative disease
p.Leu2062Phe Single submitter Inborn genetic diseases ⚠
p.Leu2481Val Single submitter Inborn genetic diseases ⚠
p.Leu3105His Single submitter Inborn genetic diseases
p.Leu510= Single submitter VPS13A-related neurodegenerative disease
p.Lys124Asn Single submitter ⚠
p.Lys2672Asn Single submitter
p.Lys2775Met Single submitter VPS13A-related neurodegenerative disease
p.Lys643= Single submitter VPS13A-related neurodegenerative disease
p.Met1245Val Single submitter Inborn genetic diseases ⚠
p.Met1505Thr Single submitter ⚠
p.Phe1160Val Single submitter Inborn genetic diseases ⚠
p.Phe2719= Single submitter VPS13A-related neurodegenerative disease
p.Phe2994= Single submitter VPS13A-related neurodegenerative disease
p.Pro1743Ser Single submitter VPS13A-related neurodegenerative disease
p.Pro1827= Single submitter VPS13A-related neurodegenerative disease
p.Pro2670Leu Single submitter
p.Pro938= Single submitter VPS13A-related neurodegenerative disease
p.Pro947= Single submitter VPS13A-related neurodegenerative disease
p.Pro974= Single submitter VPS13A-related neurodegenerative disease
p.Ser1357Ile Single submitter Inborn genetic diseases ⚠
p.Ser1534= Single submitter VPS13A-related neurodegenerative disease
p.Ser1749Leu Single submitter VPS13A-related neurodegenerative disease ⚠
p.Ser2781Thr Single submitter Inborn genetic diseases
p.Ser385= Single submitter VPS13A-related neurodegenerative disease
p.Ser629Thr Single submitter Inborn genetic diseases ⚠
p.Ser734Asn Single submitter VPS13A-related neurodegenerative disease ⚠
p.Thr1140= Single submitter VPS13A-related neurodegenerative disease
p.Thr1683Ala Single submitter VPS13A-related neurodegenerative disease ⚠
p.Thr1865Ile Single submitter VPS13A-related neurodegenerative disease ⚠
p.Thr2306= Single submitter
p.Thr3010Ala Single submitter Inborn genetic diseases
p.Thr818= Single submitter VPS13A-related neurodegenerative disease
p.Tyr1587Cys Single submitter VPS13A-related neurodegenerative disease ⚠
p.Tyr1824Cys Single submitter Inborn genetic diseases ⚠
p.Val1312Ile Single submitter Inborn genetic diseases ⚠
p.Val1872Ile Single submitter Inborn genetic diseases ⚠
p.Val2181Ile Single submitter Inborn genetic diseases ⚠
p.Val2208Leu Single submitter VPS13A-related neurodegenerative disease ⚠
p.Val2425Ile Single submitter Inborn genetic diseases ⚠
p.Val384Met Single submitter Inborn genetic diseases ⚠
p.Val53= Single submitter VPS13A-related neurodegenerative disease
p.Val834Ile Single submitter ⚠

Benign 209

c.100+200G>T Multiple submitters
c.100+225G>A Multiple submitters
c.101-62A>G Multiple submitters VPS13A-related neurodegenerative disease
c.1224+139T>C Multiple submitters
c.1596-31C>T Multiple submitters VPS13A-related neurodegenerative disease
c.1901-215G>A Multiple submitters VPS13A-related neurodegenerative disease
c.2037+191T>C Multiple submitters VPS13A-related neurodegenerative disease
c.2170+42G>A Multiple submitters VPS13A-related neurodegenerative disease
c.2171-69A>C Multiple submitters
c.2288+20T>C Multiple submitters VPS13A-related neurodegenerative disease
c.2428-50G>A Multiple submitters VPS13A-related neurodegenerative disease
c.2428-51C>T Multiple submitters
c.2512+116A>G Multiple submitters VPS13A-related neurodegenerative disease
c.2824+100T>G Multiple submitters
c.2825-63T>G Multiple submitters VPS13A-related neurodegenerative disease
c.2905-190C>A Multiple submitters
c.2964+13A>G Multiple submitters VPS13A-related neurodegenerative disease
c.3118+66A>G Multiple submitters
c.3508-44G>T Multiple submitters VPS13A-related neurodegenerative disease
c.3508-51A>G Multiple submitters VPS13A-related neurodegenerative disease
c.3813-171C>G Multiple submitters VPS13A-related neurodegenerative disease
c.3961-22A>G Multiple submitters VPS13A-related neurodegenerative disease
c.3961-6del Multiple submitters
c.4114+52C>T Multiple submitters
c.4956+124G>A Multiple submitters
c.5416-132A>G Multiple submitters
c.556-94G>A Multiple submitters
c.616-83C>T Multiple submitters
c.6378+130A>G Multiple submitters
c.6378+15A>T Multiple submitters VPS13A-related neurodegenerative disease
c.6379-22G>T Multiple submitters
c.6379-27G>T Multiple submitters VPS13A-related neurodegenerative disease
c.6880-6dup Multiple submitters
c.7026+62A>G Multiple submitters VPS13A-related neurodegenerative disease
c.7027-54A>G Multiple submitters VPS13A-related neurodegenerative disease
c.7289+83G>A Multiple submitters
c.7290-109G>A Multiple submitters
c.7290-223T>C Multiple submitters
c.7806+6A>G Multiple submitters VPS13A-related neurodegenerative disease
c.7807-105T>C Multiple submitters
c.8105+81G>A Multiple submitters VPS13A-related neurodegenerative disease
c.8553+154A>G Multiple submitters
c.8553+31G>C Multiple submitters VPS13A-related neurodegenerative disease
c.8554-66A>C Multiple submitters
c.8667+106A>G Multiple submitters VPS13A-related neurodegenerative disease
c.883-91T>A Multiple submitters
c.883-92T>C Multiple submitters
c.9077+55G>C Multiple submitters
c.9078-133A>G Multiple submitters VPS13A-related neurodegenerative disease
c.9189+121T>C Multiple submitters
c.9189+2780A>G Multiple submitters
c.9189+2821T>C Multiple submitters
c.9275+139G>C Multiple submitters
c.9400-34A>T Multiple submitters VPS13A-related neurodegenerative disease
c.9474+152C>T Multiple submitters
c.9475-43G>T Multiple submitters
c.*1024C>T Multiple submitters VPS13A-related neurodegenerative disease
c.*1378C>A Multiple submitters VPS13A-related neurodegenerative disease
c.*222G>A Multiple submitters VPS13A-related neurodegenerative disease
c.*565G>A Multiple submitters VPS13A-related neurodegenerative disease
c.*942C>T Multiple submitters VPS13A-related neurodegenerative disease
p.Ala2351= Multiple submitters VPS13A-related neurodegenerative disease
p.Arg1490Lys Multiple submitters VPS13A-related neurodegenerative disease
p.Asp1643Asn Multiple submitters VPS13A-related neurodegenerative disease
p.Asp2164= Multiple submitters VPS13A-related neurodegenerative disease
p.Gln1503= Multiple submitters VPS13A-related neurodegenerative disease
p.Glu340= Multiple submitters VPS13A-related neurodegenerative disease
p.Glu970= Multiple submitters VPS13A-related neurodegenerative disease
p.Gly3023= Multiple submitters VPS13A-related neurodegenerative disease
p.His3124Asn Multiple submitters VPS13A-related neurodegenerative disease
p.Ile1036= Multiple submitters VPS13A-related neurodegenerative disease
p.Pro3009= Multiple submitters VPS13A-related neurodegenerative disease
p.Ser2302Asn Multiple submitters VPS13A-related neurodegenerative disease
p.Thr76= Multiple submitters VPS13A-related neurodegenerative disease
p.Tyr2009= Multiple submitters VPS13A-related neurodegenerative disease
p.Val906= Multiple submitters VPS13A-related neurodegenerative disease
c.101-13del Single submitter
c.101-175_101-174del Single submitter
c.101-296C>T Single submitter
c.1161+134G>A Single submitter
c.1162-4dup Single submitter
c.1225-190A>C Single submitter
c.1357+277G>A Single submitter
c.144+15T>C Single submitter
c.144+236T>C Single submitter
c.145-7dup Single submitter
c.1452+207T>G Single submitter
c.1452+221_1452+222insG Single submitter
c.1452+229dup Single submitter
c.1452+246C>T Single submitter
c.1453-203dup Single submitter
c.1595+24del Single submitter
c.1595+24dup Single submitter
c.1595+282T>G Single submitter
c.1596-10_1596-8del Single submitter
c.1596-8dup Single submitter
c.1785+14del Single submitter
c.188-6dup Single submitter
c.188-88_188-87insT Single submitter
c.1901-319A>G Single submitter
c.2038-146G>A Single submitter
c.2171-174C>T Single submitter
c.2288+210A>C Single submitter
c.2288+242T>C Single submitter
c.2289-4del Single submitter
c.2427+150del Single submitter
c.2428-179T>G Single submitter
c.2428-181A>G Single submitter
c.2512+214A>C Single submitter
c.2513-285A>G Single submitter
c.2667+158_2667+159insT Single submitter
c.2667+159C>T Single submitter
c.2667+169dup Single submitter
c.2667+169T>A Single submitter
c.283+115A>G Single submitter
c.283+20del Single submitter
c.283+20dup Single submitter
c.283+269T>C Single submitter
c.284-14del Single submitter
c.284-14dup Single submitter
c.2905-127TA[10] Single submitter
c.2905-127TA[8] Single submitter
c.2905-217G>A Single submitter
c.3118+11dup Single submitter
c.3118+182C>T Single submitter
c.3118+41del Single submitter
c.3118+66A>C Single submitter VPS13A-related neurodegenerative disease
c.3119-255A>G Single submitter
c.3119-339G>T Single submitter
c.3339+331del Single submitter
c.3507+235T>A Single submitter
c.3508-240T>C Single submitter
c.385+249_385+250insA Single submitter
c.385+250_385+251del Single submitter
c.385+250_385+251insA Single submitter
c.385+250_385+251insATA Single submitter
c.385+250_385+251insATATA Single submitter
c.385+250T>A Single submitter
c.385+251TA[9] Single submitter
c.385+267C>T Single submitter
c.386-337C>T Single submitter
c.3960+11_3960+12del Single submitter
c.4114+10del Single submitter
c.4412+174T>G Single submitter
c.4412+215C>A Single submitter
c.4630+178dup Single submitter
c.4631-102T>C Single submitter
c.4863+255G>A Single submitter
c.4864-10del Single submitter
c.4957-9del Single submitter
c.496-248G>T Single submitter
c.496-264C>A Single submitter
c.5313+298T>C Single submitter
c.5314-324dup Single submitter
c.5416-242T>C Single submitter
c.556-10del Single submitter
c.5992-308A>G Single submitter
c.6095+258T>C Single submitter
c.6096-221T>A Single submitter
c.6096-256G>A Single submitter
c.6379-10_6379-8del Single submitter
c.6379-22del Single submitter
c.6379-27del Single submitter
c.6880-6del Single submitter
c.696+15dup Single submitter
c.696+176C>T Single submitter
c.696+199_696+200del Single submitter
c.696+200del Single submitter
c.696+200dup Single submitter
c.696+286A>G Single submitter
c.697-168A>G Single submitter
c.697-236T>C Single submitter
c.7156-234del Single submitter
c.7420-17dup Single submitter
c.7420-212A>G Single submitter
c.754+13del Single submitter
c.754+273A>G Single submitter
c.755-314C>T Single submitter
c.7652+19del Single submitter
c.7653-208C>T Single submitter
c.7806+269A>G Single submitter
c.7953+134_7953+135dup Single submitter
c.7953+135dup Single submitter
c.8035+10del Single submitter
c.8472-300C>G Single submitter
c.8553+170A>G Single submitter
c.8553+227G>A Single submitter
c.8667+17del Single submitter
c.8908-149dup Single submitter
c.8954-9del Single submitter
c.9077+233C>T Single submitter
c.9077+297C>T Single submitter
c.9078-334C>T Single submitter
c.9078-8dup Single submitter
c.9189+2545TGA[12] Single submitter
c.9399+171del Single submitter
c.9399+197T>C Single submitter
c.9399+24dup Single submitter
c.9400-15A>G Single submitter
c.9400-169T>C Single submitter
c.989+256G>C Single submitter
c.989+304T>C Single submitter
c.990-203A>G Single submitter
c.990-7dup Single submitter
c.*1186A>G Single submitter VPS13A-related neurodegenerative disease
c.*1458T>G Single submitter VPS13A-related neurodegenerative disease
c.*274AGA[1] Single submitter
c.*694C>A Single submitter VPS13A-related neurodegenerative disease
p.Val82Ile Single submitter

Benign/Likely benign 69

c.101-3dup Multiple submitters
c.101-7T>C Multiple submitters VPS13A-related neurodegenerative disease
c.1358-29A>G Multiple submitters
c.1452+13C>A Multiple submitters
c.1453-15C>T Multiple submitters VPS13A-related neurodegenerative disease
c.1596-8del Multiple submitters
c.2037+8C>A Multiple submitters VPS13A-related neurodegenerative disease
c.2289-16del Multiple submitters
c.2667+12G>A Multiple submitters VPS13A-related neurodegenerative disease
c.2964+18A>G Multiple submitters
c.3119-5del Multiple submitters
c.3119-5dup Multiple submitters
c.3813-15T>C Multiple submitters VPS13A-related neurodegenerative disease
c.385+6_385+15del Multiple submitters VPS13A-related neurodegenerative disease
c.3961-6dup Multiple submitters VPS13A-related neurodegenerative disease
c.3961-7_3961-6dup Multiple submitters
c.4630+17A>G Multiple submitters VPS13A-related neurodegenerative disease
c.4631-17A>G Multiple submitters
c.556-10dup Multiple submitters
c.5831-8T>C Multiple submitters VPS13A-related neurodegenerative disease
c.6096-16A>T Multiple submitters
c.6096-7C>T Multiple submitters VPS13A-related neurodegenerative disease
c.615+20G>C Multiple submitters VPS13A-related neurodegenerative disease
c.6379-17T>G Multiple submitters
c.6379-7A>T Multiple submitters VPS13A-related neurodegenerative disease
c.6880-19G>C Multiple submitters VPS13A-related neurodegenerative disease
c.7155+14del Multiple submitters
c.7155+14dup Multiple submitters VPS13A-related neurodegenerative disease
c.7155+21dup Multiple submitters
c.7954-11del Multiple submitters
c.8472-12C>T Multiple submitters VPS13A-related neurodegenerative disease
c.8472-18T>C Multiple submitters
c.883-16A>C Multiple submitters VPS13A-related neurodegenerative disease
c.8907+10T>G Multiple submitters VPS13A-related neurodegenerative disease
c.8954-16T>G Multiple submitters
c.8954-9dup Multiple submitters
c.9078-7C>T Multiple submitters VPS13A-related neurodegenerative disease
c.9189+2545TGA[6] Multiple submitters VPS13A-related neurodegenerative disease
c.9189+2818G>T Multiple submitters
c.9190-20C>T Multiple submitters
c.9400-15A>C Multiple submitters VPS13A-related neurodegenerative disease
p.Ala1347= Multiple submitters VPS13A-related neurodegenerative disease
p.Ala1813= Multiple submitters VPS13A-related neurodegenerative disease
p.Ala586= Multiple submitters VPS13A-related neurodegenerative disease
p.Arg1993= Multiple submitters VPS13A-related neurodegenerative disease
p.Asp2230= Multiple submitters VPS13A-related neurodegenerative disease
p.Glu1028Gly Multiple submitters VPS13A-related neurodegenerative disease
p.Glu1548Lys Multiple submitters VPS13A-related neurodegenerative disease
p.Glu2137Gly Multiple submitters VPS13A-related neurodegenerative disease
p.Glu2385= Multiple submitters VPS13A-related neurodegenerative disease
p.Glu916= Multiple submitters VPS13A-related neurodegenerative disease
p.Gly1119Glu Multiple submitters VPS13A-related neurodegenerative disease
p.His196= Multiple submitters VPS13A-related neurodegenerative disease
p.Ile2486Val Multiple submitters VPS13A-related neurodegenerative disease
p.Ile2892= Multiple submitters VPS13A-related neurodegenerative disease
p.Leu1761= Multiple submitters VPS13A-related neurodegenerative disease
p.Leu1934= Multiple submitters VPS13A-related neurodegenerative disease
p.Lys2743Thr Multiple submitters VPS13A-related neurodegenerative disease
p.Pro797= Multiple submitters VPS13A-related neurodegenerative disease
p.Ser1728= Multiple submitters VPS13A-related neurodegenerative disease
p.Ser1916Asn Multiple submitters VPS13A-related neurodegenerative disease
p.Ser2784Ala Multiple submitters VPS13A-related neurodegenerative disease
p.Ser708= Multiple submitters VPS13A-related neurodegenerative disease
p.Thr1026= Multiple submitters VPS13A-related neurodegenerative disease
p.Thr1861= Multiple submitters VPS13A-related neurodegenerative disease
p.Thr404= Multiple submitters VPS13A-related neurodegenerative disease
p.Tyr2857= Multiple submitters VPS13A-related neurodegenerative disease
p.Val1973Ile Multiple submitters VPS13A-related neurodegenerative disease
p.Val898Ala Multiple submitters VPS13A-related neurodegenerative disease

Likely benign 2005

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

c.100+19C>T Multiple submitters
c.1161+14A>G Multiple submitters
c.1161+77T>G Multiple submitters
c.1358-45A>C Multiple submitters
c.1453-36A>G Multiple submitters
c.1785+13T>A Multiple submitters
c.187+14A>G Multiple submitters
c.187+166T>C Multiple submitters
c.188-12A>C Multiple submitters
c.188-16T>C Multiple submitters
c.1900+17A>G Multiple submitters
c.2289-19T>C Multiple submitters
c.2289-7A>G Multiple submitters
c.2428-52G>A Multiple submitters
c.2824+13A>G Multiple submitters
c.2825-15A>T Multiple submitters
c.2904+13_2904+15dup Multiple submitters
c.2905-124A>G Multiple submitters
c.2965-16C>T Multiple submitters
c.3118+20A>G Multiple submitters
c.3119-14A>T Multiple submitters
c.3119-17T>C Multiple submitters
c.3235+8A>G Multiple submitters
c.3339+12T>C Multiple submitters
c.3508-38A>G Multiple submitters
c.3508-8T>C Multiple submitters VPS13A-related neurodegenerative disease
c.3508-9A>G Multiple submitters
c.3813-86T>C Multiple submitters
c.385+10A>G Multiple submitters
c.385+76T>C Multiple submitters
c.4413-4C>T Multiple submitters
c.4957-17_4957-14del Multiple submitters
c.4957-17A>G Multiple submitters
c.4957-19_4957-17del Multiple submitters
c.5313+7A>G Multiple submitters
c.5831-15A>T Multiple submitters
c.5991+15A>G Multiple submitters
c.5991+15A>T Multiple submitters
c.5991+9T>C Multiple submitters
c.6378+20G>A Multiple submitters
c.6379-109G>A Multiple submitters
c.6379-19T>G Multiple submitters
c.6379-9T>G Multiple submitters
c.6775-13del Multiple submitters
c.6775-17G>A Multiple submitters
c.6880-16A>T Multiple submitters
c.697-87C>T Multiple submitters
c.7156-11C>G Multiple submitters
c.7156-12T>C Multiple submitters
c.7289+11C>T Multiple submitters
c.7289+19C>G Multiple submitters
c.7290-10A>G Multiple submitters VPS13A-related neurodegenerative disease
c.755-100A>T Multiple submitters
c.7652+13A>C Multiple submitters
c.7652+90C>G Multiple submitters
c.7653-24A>G Multiple submitters
c.7953+11C>G Multiple submitters
c.7954-153C>T Multiple submitters
c.8105+14T>C Multiple submitters
c.8105+17A>G Multiple submitters
c.8105+7G>T Multiple submitters
c.8211+104A>G Multiple submitters
c.8211+13A>G Multiple submitters
c.8554-19G>A Multiple submitters
c.8668-10G>C Multiple submitters VPS13A-related neurodegenerative disease
c.8668-21A>G Multiple submitters
c.8743+19A>G Multiple submitters
c.8744-12A>G Multiple submitters
c.8744-18A>G Multiple submitters
c.8953+7A>G Multiple submitters VPS13A-related neurodegenerative disease
c.8953+8T>C Multiple submitters
c.8954-14T>A Multiple submitters
c.8954-15C>G Multiple submitters
c.8954-5T>C Multiple submitters
c.9189+2408T>G Multiple submitters
c.9189+2506A>G Multiple submitters
c.9190-16_9190-13del Multiple submitters
c.9275+15_9275+18del Multiple submitters
c.9275+19C>T Multiple submitters
c.9276-20_9276-17del Multiple submitters
c.9400-8_9400-5dup Multiple submitters
c.9474+17T>C Multiple submitters
c.9474+78A>G Multiple submitters
c.9475-20C>T Multiple submitters
c.9475-5C>T Multiple submitters
c.9475-97A>T Multiple submitters
c.989+64G>A Multiple submitters
c.989+74A>G Multiple submitters
c.990-19T>G Multiple submitters
p.Ala1278= Multiple submitters
p.Ala1930= Multiple submitters
p.Ala2826= Multiple submitters
p.Ala327= Multiple submitters
p.Ala561= Multiple submitters
p.Arg1087= Multiple submitters
p.Arg865= Multiple submitters
p.Asn1143= Multiple submitters
p.Asn1365= Multiple submitters
p.Asn241= Multiple submitters VPS13A-related neurodegenerative disease
p.Asp1818= Multiple submitters
p.Asp2097= Multiple submitters
p.Asp233= Multiple submitters VPS13A-related neurodegenerative disease
p.Asp2716= Multiple submitters
p.Asp423= Multiple submitters VPS13A-related neurodegenerative disease
p.Gln2855= Multiple submitters
p.Gln42= Multiple submitters VPS13A-related neurodegenerative disease
p.Glu1542= Multiple submitters VPS13A-related neurodegenerative disease
p.Glu2423= Multiple submitters
p.Glu3115= Multiple submitters
p.Glu516= Multiple submitters
p.Gly527= Multiple submitters VPS13A-related neurodegenerative disease
p.Gly768= Multiple submitters VPS13A-related neurodegenerative disease
p.His1336Leu Multiple submitters Inborn genetic diseases
p.His1948= Multiple submitters
p.His2163= Multiple submitters VPS13A-related neurodegenerative disease
p.His2233= Multiple submitters
p.Ile207= Multiple submitters VPS13A-related neurodegenerative disease
p.Ile281Val Multiple submitters Inborn genetic diseases
p.Ile3013Val Multiple submitters VPS13A-related neurodegenerative disease
p.Ile656= Multiple submitters
p.Ile987= Multiple submitters
p.Leu101= Multiple submitters
p.Leu1200= Multiple submitters
p.Leu173= Multiple submitters
p.Leu22= Multiple submitters
p.Leu2904= Multiple submitters
p.Leu301= Multiple submitters VPS13A-related neurodegenerative disease
p.Leu386= Multiple submitters
p.Leu673= Multiple submitters
p.Leu788= Multiple submitters
p.Leu950= Multiple submitters
p.Lys1461= Multiple submitters
p.Phe1871= Multiple submitters
p.Phe2034= Multiple submitters VPS13A-related neurodegenerative disease
p.Pro1609= Multiple submitters
p.Pro172= Multiple submitters VPS13A-related neurodegenerative disease
p.Pro1788= Multiple submitters
p.Pro2607= Multiple submitters VPS13A-related neurodegenerative disease
p.Pro608= Multiple submitters VPS13A-related neurodegenerative disease
p.Pro847= Multiple submitters
p.Ser1025= Multiple submitters VPS13A-related neurodegenerative disease
p.Ser157= Multiple submitters
p.Ser2673= Multiple submitters
p.Ser2756= Multiple submitters
p.Ser3035= Multiple submitters VPS13A-related neurodegenerative disease
p.Ser715= Multiple submitters
p.Ser833= Multiple submitters VPS13A-related neurodegenerative disease
p.Thr1650= Multiple submitters VPS13A-related neurodegenerative disease
p.Thr1670= Multiple submitters
p.Thr1679= Multiple submitters
p.Thr2297= Multiple submitters
p.Thr2312= Multiple submitters
p.Thr2608= Multiple submitters
p.Thr374= Multiple submitters
p.Thr641= Multiple submitters
p.Tyr1304= Multiple submitters
p.Tyr922= Multiple submitters VPS13A-related neurodegenerative disease
p.Val2186= Multiple submitters VPS13A-related neurodegenerative disease
p.Val2359= Multiple submitters
p.Val578= Multiple submitters VPS13A-related neurodegenerative disease
p.Val8= Multiple submitters
p.Val82= Multiple submitters
c.100+10C>T Single submitter
c.100+14C>G Single submitter
c.100+16C>T Single submitter
c.100+20C>T Single submitter
c.100+8G>C Single submitter
c.100+9G>C Single submitter
c.100+9GCC[5] Single submitter
c.100+9GCC[6] Single submitter
c.101-13T>A Single submitter
c.101-13T>C Single submitter
c.101-17T>G Single submitter
c.101-195G>T Single submitter
c.101-4T>C Single submitter
c.101-6T>G Single submitter
c.1161+10dup Single submitter
c.1161+11A>G Single submitter
c.1161+14A>T Single submitter
c.1161+15T>A Single submitter
c.1161+240A>C Single submitter
c.1161+8T>C Single submitter
c.1162-11A>T Single submitter
c.1162-12T>C Single submitter
c.1162-14T>A Single submitter
c.1162-15G>A Single submitter
c.1162-7T>C Single submitter
c.1162-9A>G Single submitter
c.1224+165_1224+166insA Single submitter
c.1224+16T>C Single submitter
c.1224+184A>G Single submitter
c.1224+19A>G Single submitter
c.1224+7C>T Single submitter
c.1224+8T>C Single submitter
c.1225-10T>C Single submitter
c.1225-11A>T Single submitter
c.1225-18A>C Single submitter
c.1225-18A>G Single submitter
c.1225-6T>C Single submitter
c.1225-7A>C Single submitter
c.1225-7A>G Single submitter
c.1225-9T>C Single submitter
c.1357+20C>T Single submitter
c.1357+8_1357+9dup Single submitter
c.1357+8C>A Single submitter
c.1358-16T>G Single submitter
c.1358-19A>G Single submitter
c.1358-7T>C Single submitter
c.144+10G>C Single submitter
c.144+10G>T Single submitter
c.144+14A>C Single submitter
c.145-13A>T Single submitter
c.145-14A>C Single submitter
c.145-19A>G Single submitter
c.145-206A>G Single submitter
c.145-4G>C Single submitter
c.145-4G>T Single submitter
c.1452+13C>T Single submitter
c.1452+14T>C Single submitter
c.1452+17C>A Single submitter
c.1452+222T>G Single submitter
c.1452+7T>C Single submitter
c.1452+8G>A Single submitter
c.1452+8G>C Single submitter
c.1453-133A>G Single submitter
c.1453-13G>A Single submitter
c.1453-14T>G Single submitter
c.1453-18C>A Single submitter
c.1453-5C>T Single submitter
c.1453-6C>A Single submitter
c.1453-6C>T Single submitter
c.1453-9A>T Single submitter
c.1595+10_1595+13del Single submitter
c.1595+10A>T Single submitter
c.1595+143dup Single submitter
c.1595+16T>G Single submitter
c.1595+292del Single submitter
c.1595+7A>G Single submitter
c.1595+8T>A Single submitter
c.1596-11T>C Single submitter
c.1596-16T>A Single submitter
c.1596-18_1596-14del Single submitter
c.1596-4G>T Single submitter
c.1596-5T>C Single submitter
c.1596-6A>T Single submitter
c.1596-6del Single submitter
c.1596-6dup Single submitter
c.1596-7A>C Single submitter
c.1596-8T>A Single submitter
c.1785+12T>C Single submitter
c.1785+13T>C Single submitter
c.1785+14T>A Single submitter
c.1785+15A>T Single submitter
c.1785+16A>C Single submitter
c.1785+16A>G Single submitter
c.1785+17A>G Single submitter
c.1785+9T>G Single submitter
c.1786-10A>G Single submitter
c.1786-11T>C Single submitter
c.1786-14G>A Single submitter
c.187+16T>C Single submitter
c.187+19del Single submitter
c.187+8A>G Single submitter
c.187+9T>C Single submitter
c.188-13C>G Single submitter
c.188-13dup Single submitter
c.188-14C>T Single submitter
c.188-4G>T Single submitter
c.188-5T>C Single submitter VPS13A-related neurodegenerative disease
c.188-7A>T Single submitter
c.1900+11A>G Single submitter
c.1900+13A>G Single submitter
c.1900+16A>G Single submitter
c.1900+18T>C Single submitter
c.1900+9C>G Single submitter
c.1901-10A>G Single submitter
c.1901-10A>T Single submitter
c.1901-11C>T Single submitter
c.1901-12A>C Single submitter
c.1901-13del Single submitter
c.1901-156T>C Single submitter
c.1901-17G>T Single submitter
c.1901-19A>G Single submitter
c.1901-295G>A Single submitter
c.2037+11A>G Single submitter
c.2037+14_2037+16del Single submitter
c.2037+15T>G Single submitter
c.2037+17T>C Single submitter
c.2037+18T>G Single submitter
c.2037+4T>C Single submitter
c.2037+7A>C Single submitter
c.2037+7A>G Single submitter
c.2037+8C>G Single submitter
c.2037+8C>T Single submitter
c.2037+9del Single submitter
c.2038-18A>G Single submitter
c.2038-4G>A Single submitter
c.2038-6T>C Single submitter
c.2038-7C>T Single submitter
c.2170+10A>C Single submitter

Uncertain significance 918

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

c.2667+4G>A Multiple submitters VPS13A-related neurodegenerative disease
c.4412+3A>G Multiple submitters
c.5831-3del Multiple submitters
c.6096-3C>A Multiple submitters VPS13A-related neurodegenerative disease
p.Ala1193Val Multiple submitters Inborn genetic diseases
p.Ala1518Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala2564Thr Multiple submitters ⚠
p.Ala405Thr Multiple submitters Inborn genetic diseases
p.Arg1098Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1268Gln Multiple submitters ⚠
p.Arg1386His Multiple submitters Inborn genetic diseases ⚠
p.Arg169Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1962His Multiple submitters Inborn genetic diseases ⚠
p.Arg204Cys Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Arg208Gln Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Arg2497Cys Multiple submitters Inborn genetic diseases
p.Arg2497His Multiple submitters VPS13A-related neurodegenerative disease
p.Arg2604Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2604His Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Arg2649Gly Multiple submitters Inborn genetic diseases
p.Arg2957Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg3129His Multiple submitters Inborn genetic diseases
p.Arg685Leu Multiple submitters Inborn genetic diseases ⚠
p.Asn1776Ser Multiple submitters Inborn genetic diseases
p.Asn2025Ser Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Asn217Asp Multiple submitters VPS13A-related neurodegenerative disease
p.Asn2635Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn3043Ser Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Asn3059Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn697Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn747Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn944Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn990Lys Multiple submitters Inborn genetic diseases
p.Asp1344Gly Multiple submitters ⚠
p.Asp1792Tyr Multiple submitters Inborn genetic diseases
p.Asp1952Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp2553Val Multiple submitters VPS13A-related neurodegenerative disease
p.Asp271Tyr Multiple submitters VPS13A-related neurodegenerative disease
p.Asp2940Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp448His Multiple submitters ⚠
p.Asp779Glu Multiple submitters Inborn genetic diseases
p.Asp923Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp942Val Multiple submitters ⚠
p.Asp995Gly Multiple submitters Inborn genetic diseases
p.Cys2377Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1604Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln2249Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln2794Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln42His Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Gln712His Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Glu120Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu1769Asp Multiple submitters ⚠
p.Glu2483Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu3155Asp Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Glu444Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu916Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly1136Ser Multiple submitters Inborn genetic diseases
p.Gly1371Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1445Ser Multiple submitters ⚠
p.Gly1719= Multiple submitters VPS13A-related neurodegenerative disease
p.Gly2205Cys Multiple submitters Inborn genetic diseases
p.His1464Asn Multiple submitters Inborn genetic diseases ⚠
p.His2233Gln Multiple submitters ⚠
p.His2657Tyr Multiple submitters Inborn genetic diseases ⚠
p.His2802Tyr Multiple submitters Inborn genetic diseases ⚠
p.His3124Arg Multiple submitters Inborn genetic diseases ⚠
p.His493Arg Multiple submitters Inborn genetic diseases ⚠
p.His541Tyr Multiple submitters Inborn genetic diseases ⚠
p.His677Tyr Multiple submitters ⚠
p.His739Asp Multiple submitters Inborn genetic diseases
p.Ile1049Thr Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Ile1065Val Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Ile1107Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1156Val Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Ile1213Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1257Val Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Ile1339Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1804Val Multiple submitters Inborn genetic diseases ⚠
p.Ile244Val Multiple submitters Inborn genetic diseases ⚠
p.Ile2524Val Multiple submitters Inborn genetic diseases ⚠
p.Ile2549Val Multiple submitters Inborn genetic diseases ⚠
p.Ile2975Val Multiple submitters Inborn genetic diseases ⚠
p.Ile584Val Multiple submitters Inborn genetic diseases ⚠
p.Ile987Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu1453Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu2432Val Multiple submitters Inborn genetic diseases ⚠
p.Leu2713Val Multiple submitters Inborn genetic diseases
p.Leu302Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu554Phe Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Leu869_Gln872delinsPhe Multiple submitters
p.Lys1672Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys2373Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys2562Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys2572Arg Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Lys2793Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys39Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys58Gln Multiple submitters
p.Lys794Asn Multiple submitters Inborn genetic diseases
p.Lys806Glu Multiple submitters Inborn genetic diseases ⚠
p.Met1084Val Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Met1142Val Multiple submitters Inborn genetic diseases ⚠
p.Met1744Val Multiple submitters
p.Met2217Val Multiple submitters Inborn genetic diseases ⚠
p.Met2262Thr Multiple submitters Inborn genetic diseases
p.Phe1321Leu Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Phe2052Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro133Leu Multiple submitters ⚠
p.Pro1609Leu Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Pro1612Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro1711Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro172Leu Multiple submitters VPS13A-related neurodegenerative disease
p.Pro2027Ala Multiple submitters Inborn genetic diseases
p.Pro2027Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro2366Ser Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Pro2602Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro2617Leu Multiple submitters VPS13A-related neurodegenerative disease
p.Pro378Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro508Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser1017Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser1251Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser1867Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser2167Asn Multiple submitters Inborn genetic diseases
p.Ser2699Pro Multiple submitters VPS13A-related neurodegenerative disease
p.Ser563Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser665Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser684Thr Multiple submitters Inborn genetic diseases ⚠
p.Thr1108Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr1162Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1377Ala Multiple submitters ⚠
p.Thr138Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr1529Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr1660Ser Multiple submitters Inborn genetic diseases
p.Thr1922Asn Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Thr1932Asn Multiple submitters VPS13A-related neurodegenerative disease
p.Thr2403Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr2540Met Multiple submitters Inborn genetic diseases ⚠
p.Thr2599Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr3101Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr404Met Multiple submitters Inborn genetic diseases ⚠
p.Thr480Ala Multiple submitters ⚠
p.Thr667Pro Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Thr799Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr814Ala Multiple submitters VPS13A-related neurodegenerative disease ⚠
p.Thr963Met Multiple submitters Inborn genetic diseases ⚠
p.Trp435Arg Multiple submitters VPS13A-related neurodegenerative disease
p.Tyr2044Cys Multiple submitters Inborn genetic diseases
p.Tyr2124Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr2546Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr365Cys Multiple submitters Inborn genetic diseases ⚠
p.Val1161Leu Multiple submitters Inborn genetic diseases ⚠
p.Val263Met Multiple submitters Inborn genetic diseases ⚠
p.Val321Met Multiple submitters Inborn genetic diseases ⚠
p.Val500Phe Multiple submitters Inborn genetic diseases ⚠
p.Val798Leu Multiple submitters Inborn genetic diseases ⚠
c.144+3A>G Single submitter
c.2427+4A>T Single submitter
c.2512+6A>G Single submitter
c.2513-3T>G Single submitter
c.2905-3T>C Single submitter
c.3235+5T>C Single submitter
c.3339+5G>T Single submitter
c.3339+902A>G Single submitter VPS13A-related neurodegenerative disease
c.3812+5G>A Single submitter
c.386-24A>G Single submitter VPS13A-related neurodegenerative disease
c.386-7A>G Single submitter
c.4631-3T>C Single submitter
c.495+4_495+7del Single submitter VPS13A-related neurodegenerative disease
c.496-3T>C Single submitter
c.5313+1G>C Single submitter Inborn genetic diseases
c.5991+3A>G Single submitter Inborn genetic diseases
c.6378+6G>A Single submitter
c.6774+6C>T Single submitter
c.696+5G>A Single submitter
c.7026+3G>A Single submitter
c.7289+6A>C Single submitter
c.8105+3_8105+6del Single submitter
c.8211+3A>G Single submitter
c.8668-3T>C Single submitter VPS13A-related neurodegenerative disease
c.8954-3C>T Single submitter
c.9189+2495C>T Single submitter VPS13A-related neurodegenerative disease
c.9189+2520G>A Single submitter VPS13A-related neurodegenerative disease
c.9189+2545TGA[13] Single submitter VPS13A-related neurodegenerative disease
c.9474+518A>G Single submitter VPS13A-related neurodegenerative disease
c.9475-1G>A Single submitter
c.9475-3_9500dup Single submitter
c.-148C>T Single submitter VPS13A-related neurodegenerative disease
c.-150C>T Single submitter VPS13A-related neurodegenerative disease
c.-16A>T Single submitter VPS13A-related neurodegenerative disease
c.*106T>G Single submitter VPS13A-related neurodegenerative disease
c.*1078T>G Single submitter VPS13A-related neurodegenerative disease
c.*1095A>G Single submitter VPS13A-related neurodegenerative disease
c.*1133A>C Single submitter VPS13A-related neurodegenerative disease
c.*1140A>T Single submitter VPS13A-related neurodegenerative disease
c.*1194A>C Single submitter VPS13A-related neurodegenerative disease
c.*182G>A Single submitter VPS13A-related neurodegenerative disease
c.*185A>G Single submitter VPS13A-related neurodegenerative disease
c.*279A>T Single submitter VPS13A-related neurodegenerative disease
c.*409A>G Single submitter VPS13A-related neurodegenerative disease
c.*474G>A Single submitter VPS13A-related neurodegenerative disease
c.*481G>A Single submitter VPS13A-related neurodegenerative disease
c.*503C>A Single submitter VPS13A-related neurodegenerative disease
c.*663T>C Single submitter VPS13A-related neurodegenerative disease
c.*665C>G Single submitter VPS13A-related neurodegenerative disease
c.*81A>G Single submitter VPS13A-related neurodegenerative disease
c.*933A>G Single submitter VPS13A-related neurodegenerative disease
c.*990T>A Single submitter VPS13A-related neurodegenerative disease
p.Ala1022Pro Single submitter Inborn genetic diseases ⚠
p.Ala1095Thr Single submitter Inborn genetic diseases ⚠
p.Ala1133Thr Single submitter Inborn genetic diseases ⚠
p.Ala1178Pro Single submitter Inborn genetic diseases
p.Ala1181Thr Single submitter
p.Ala1358Thr Single submitter Inborn genetic diseases ⚠
p.Ala1500Val Single submitter ⚠
p.Ala1530Val Single submitter ⚠
p.Ala1540Val Single submitter Inborn genetic diseases ⚠
p.Ala1607Asp Single submitter Inborn genetic diseases
p.Ala1667Val Single submitter ⚠
p.Ala1747Thr Single submitter Inborn genetic diseases ⚠
p.Ala1747Val Single submitter Inborn genetic diseases ⚠
p.Ala1863Thr Single submitter Inborn genetic diseases ⚠
p.Ala2141Val Single submitter ⚠
p.Ala2351Thr Single submitter ⚠
p.Ala2411Ser Single submitter VPS13A-related neurodegenerative disease ⚠
p.Ala2525Thr Single submitter Inborn genetic diseases ⚠
p.Ala2638Val Single submitter
p.Ala2722_Leu2723insPhe Single submitter
p.Ala2730Val Single submitter ⚠
p.Ala287Thr Single submitter Inborn genetic diseases ⚠
p.Ala2920Val Single submitter
p.Ala2927Val Single submitter Inborn genetic diseases ⚠
p.Ala2948Thr Single submitter Inborn genetic diseases ⚠
p.Ala3005Thr Single submitter ⚠
p.Ala309Thr Single submitter ⚠
p.Ala332Thr Single submitter ⚠
p.Ala653Val Single submitter
p.Ala730Val Single submitter Inborn genetic diseases ⚠
p.Ala928Asp Single submitter VPS13A-related neurodegenerative disease ⚠
p.Ala928Gly Single submitter Inborn genetic diseases ⚠
p.Arg1386Cys Single submitter Inborn genetic diseases ⚠
p.Arg1386Pro Single submitter ⚠
p.Arg1421Cys Single submitter Inborn genetic diseases
p.Arg1462Ile Single submitter Inborn genetic diseases
p.Arg1471Gln Single submitter ⚠
p.Arg1750Cys Single submitter VPS13A-related neurodegenerative disease ⚠
p.Arg1750Leu Single submitter Inborn genetic diseases ⚠
p.Arg1921Gln Single submitter Inborn genetic diseases ⚠
p.Arg1993Cys Single submitter ⚠
p.Arg1993His Single submitter
p.Arg2068Gly Single submitter Inborn genetic diseases ⚠
p.Arg2114Gln Single submitter
p.Arg2223Cys Single submitter VPS13A-related neurodegenerative disease ⚠
p.Arg2223Ser Single submitter ⚠
p.Arg2234Gln Single submitter Inborn genetic diseases ⚠
p.Arg2381Cys Single submitter ⚠
p.Arg2381His Single submitter Inborn genetic diseases ⚠
p.Arg254Cys Single submitter ⚠
p.Arg2623Gln Single submitter ⚠
p.Arg266Cys Single submitter Inborn genetic diseases ⚠
p.Arg266His Single submitter Inborn genetic diseases ⚠
p.Arg2786Thr Single submitter ⚠
p.Arg2962Leu Single submitter
p.Arg3026Thr Single submitter ⚠
p.Arg3092His Single submitter VPS13A-related neurodegenerative disease ⚠
p.Arg346Gly Single submitter ⚠
p.Arg359Trp Single submitter
p.Arg553Cys Single submitter Inborn genetic diseases ⚠
p.Arg553His Single submitter ⚠
p.Arg628Cys Single submitter
p.Arg628His Single submitter
p.Arg728Thr Single submitter VPS13A-related neurodegenerative disease ⚠
p.Arg731Gln Single submitter
p.Asn1071Asp Single submitter VPS13A-related neurodegenerative disease ⚠
p.Asn1150Asp Single submitter Inborn genetic diseases ⚠
p.Asn1150Ser Single submitter ⚠
p.Asn1241Asp Single submitter Inborn genetic diseases
p.Asn1276Ser Single submitter ⚠
p.Asn1298Ser Single submitter ⚠
p.Asn12His Single submitter Inborn genetic diseases
p.Asn12Thr Single submitter Inborn genetic diseases ⚠
p.Asn1311Thr Single submitter VPS13A-related neurodegenerative disease ⚠
p.Asn1395Lys Single submitter Inborn genetic diseases
p.Asn1572Ile Single submitter ⚠
p.Asn168Ile Single submitter ⚠
p.Asn1704Ser Single submitter Inborn genetic diseases ⚠
p.Asn1725Thr Single submitter ⚠
p.Asn1763Lys Single submitter
p.Asn181Ser Single submitter ⚠
p.Asn1882His Single submitter Inborn genetic diseases ⚠
p.Asn2025Thr Single submitter Inborn genetic diseases ⚠
p.Asn2130Ser Single submitter Inborn genetic diseases ⚠
p.Asn2162Ile Single submitter VPS13A-related neurodegenerative disease ⚠
p.Asn2203Ser Single submitter ⚠
p.Asn2257del Single submitter
p.Asn2372Lys Single submitter ⚠
p.Asn2376Ser Single submitter VPS13A-related neurodegenerative disease ⚠
p.Asn2422Ser Single submitter ⚠
p.Asn2635Thr Single submitter Inborn genetic diseases ⚠
p.Asn311Thr Single submitter
p.Asn40His Single submitter Inborn genetic diseases ⚠
p.Asn599Asp Single submitter