DOCK1 — 228 ClinVar variants

All ClinVar germline DOCK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 216 flagged for review →

1 Likely pathogenic · 1 Conflicting · 11 Likely benign · 215 Uncertain significance

Full DOCK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 216

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 lean, ClinVar uncertain 119

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 97

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

All DOCK1 variants

Likely pathogenic 1

p.Glu685fs Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 1

p.Phe671Tyr Single submitter temporomandibular joint disorder ⚠

Likely benign 11

p.Ala1560Thr Single submitter
p.Ala1814Val Single submitter
p.Ala495= Single submitter
p.Asn1548= Single submitter
p.Asn1809= Single submitter
p.Asp1818Glu Single submitter
p.Met1767Ile Single submitter
p.Pro850= Single submitter
p.Thr1289= Single submitter
p.Val866Ile Single submitter ⚠
p.Lys1715Arg No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠

Uncertain significance 215

p.Ala1185Thr Single submitter ⚠
p.Ala151Thr Single submitter ⚠
p.Ala1578Ser Single submitter ⚠
p.Ala1590Gly Single submitter ⚠
p.Ala1620Val Single submitter ⚠
p.Ala1689Ser Single submitter ⚠
p.Ala280Thr Single submitter ⚠
p.Ala551Thr Single submitter ⚠
p.Ala579Val Single submitter ⚠
p.Ala759Thr Single submitter ⚠
p.Arg1088Ter Single submitter
p.Arg1121His Single submitter ⚠
p.Arg116Gln Single submitter ⚠
p.Arg119Gln Single submitter ⚠
p.Arg1217Cys Single submitter ⚠
p.Arg1217His Single submitter ⚠
p.Arg1282Gln Single submitter ⚠
p.Arg129Gln Single submitter ⚠
p.Arg1381Gln Single submitter ⚠
p.Arg1465Gln Single submitter ⚠
p.Arg1570Gln Single submitter ⚠
p.Arg1612Lys Single submitter ⚠
p.Arg1649His Single submitter ⚠
p.Arg1651Trp Single submitter ⚠
p.Arg1664His Single submitter ⚠
p.Arg1761Lys Single submitter ⚠
p.Arg1775Cys Single submitter ⚠
p.Arg1775His Single submitter ⚠
p.Arg1875Cys Single submitter ⚠
p.Arg1875His Single submitter ⚠
p.Arg1875Leu Single submitter ⚠
p.Arg292Met Single submitter ⚠
p.Arg306Cys Single submitter ⚠
p.Arg306Leu Single submitter ⚠
p.Arg417Gly Single submitter ⚠
p.Arg426Gly Single submitter ⚠
p.Arg511Cys Single submitter ⚠
p.Arg527Cys Single submitter ⚠
p.Arg527His Single submitter ⚠
p.Arg535Leu Single submitter ⚠
p.Arg914Gly Single submitter ⚠
p.Asn1074Lys Single submitter ⚠
p.Asn1809Lys Single submitter ⚠
p.Asn312Asp Single submitter ⚠
p.Asn312Lys Single submitter ⚠
p.Asn396Ser Single submitter ⚠
p.Asn778Ser Single submitter ⚠
p.Asn801Asp Single submitter ⚠
p.Asn848Ser Single submitter ⚠
p.Asn936His Single submitter ⚠
p.Asp1252Glu Single submitter ⚠
p.Asp1283Glu Single submitter ⚠
p.Asp1414Asn Single submitter ⚠
p.Asp1472Gly Single submitter ⚠
p.Asp1523Asn Single submitter ⚠
p.Asp1587Glu Single submitter ⚠
p.Asp161Gly Single submitter ⚠
p.Asp1686Glu Single submitter ⚠
p.Asp1717Gly Single submitter ⚠
p.Asp1739Asn Single submitter ⚠
p.Asp1881Gly Single submitter ⚠
p.Asp21Val Single submitter ⚠
p.Asp561Asn Single submitter ⚠
p.Asp945Tyr Single submitter ⚠
p.Cys1178Tyr Single submitter ⚠
p.Gln1013Arg Single submitter ⚠
p.Gln1299Glu Single submitter ⚠
p.Gln1299His Single submitter ⚠
p.Gln1334Arg Single submitter ⚠
p.Gln1786Lys Single submitter ⚠
p.Gln194Glu Single submitter ⚠
p.Gln214Glu Single submitter ⚠
p.Gln810Glu Single submitter ⚠
p.Gln810His Single submitter ⚠
p.Gln873His Single submitter ⚠
p.Glu1200Asp Single submitter ⚠
p.Glu1481Lys Single submitter ⚠
p.Glu1837Lys Single submitter ⚠
p.Glu754Gly Single submitter ⚠
p.Glu988Ala Single submitter ⚠
p.Gly1077Arg Single submitter ⚠
p.Gly1107Arg Single submitter ⚠
p.Gly1412Ala Single submitter ⚠
p.Gly1634Ser Single submitter ⚠
p.Gly1810Ser Single submitter ⚠
p.Gly1883Arg Single submitter ⚠
p.Gly443Asp Single submitter ⚠
p.Gly490Ala Single submitter ⚠
p.Gly568Arg Single submitter ⚠
p.Gly607Ser Single submitter ⚠
p.Gly918Glu Single submitter ⚠
p.His1048Gln Single submitter ⚠
p.His1727Gln Single submitter ⚠
p.His276Tyr Single submitter ⚠
p.His485Tyr Single submitter ⚠
p.His970Tyr Single submitter ⚠
p.Ile1238Val Single submitter ⚠
p.Ile126Thr Single submitter ⚠
p.Ile1484Thr Single submitter ⚠
p.Ile1589Thr Single submitter ⚠
p.Ile1600Val Single submitter ⚠
p.Ile255Phe Single submitter ⚠
p.Ile618Val Single submitter ⚠
p.Ile71Val Single submitter ⚠
p.Ile766Val Single submitter ⚠
p.Ile775Asn Single submitter ⚠
p.Ile800Val Single submitter ⚠
p.Leu1202Phe Single submitter ⚠
p.Leu1203Ser Single submitter ⚠
p.Leu1317Phe Single submitter ⚠
p.Leu1317Trp Single submitter ⚠
p.Leu1546Ile Single submitter ⚠
p.Leu453Ser Single submitter ⚠
p.Leu483Ser Single submitter ⚠
p.Leu931Phe Single submitter DOCK1-related disorder ⚠
p.Leu96Val Single submitter ⚠
p.Lys1031Thr Single submitter ⚠
p.Lys1152Asn Single submitter ⚠
p.Lys1182Arg Single submitter ⚠
p.Lys1340Arg Single submitter ⚠
p.Lys1340Ile Single submitter ⚠
p.Lys1469Asn Single submitter ⚠
p.Lys148del Single submitter Inborn genetic diseases
p.Lys1584Met Single submitter ⚠
p.Lys1623Arg Single submitter ⚠
p.Lys1631Ile Single submitter ⚠
p.Lys1705Arg Single submitter ⚠
p.Lys1733Arg Single submitter ⚠
p.Lys1797Thr Single submitter ⚠
p.Lys193Glu Single submitter ⚠
p.Lys216Asn Single submitter ⚠
p.Lys253Thr Single submitter ⚠
p.Lys288Glu Single submitter ⚠
p.Lys339Glu Single submitter ⚠
p.Lys517Glu Single submitter ⚠
p.Lys662Asn Single submitter ⚠
p.Lys738Asn Single submitter ⚠
p.Met1027Thr Single submitter ⚠
p.Met1079Thr Single submitter ⚠
p.Met1090Thr Single submitter ⚠
p.Met1144Thr Single submitter ⚠
p.Met1802Ile Single submitter ⚠
p.Met760Ile Single submitter ⚠
p.Met760Val Single submitter ⚠
p.Met841Val Single submitter ⚠
p.Met928Ile Single submitter ⚠
p.Met942Ile Single submitter ⚠
p.Pro1108Thr Single submitter ⚠
p.Pro1419Ser Single submitter ⚠
p.Pro1613Arg Single submitter ⚠
p.Pro1762Leu Single submitter ⚠
p.Pro176Ser Single submitter ⚠
p.Pro1783Leu Single submitter ⚠
p.Pro1783Ser Single submitter ⚠
p.Pro1790Ser Single submitter ⚠
p.Pro1791Ser Single submitter ⚠
p.Pro410Ser Single submitter ⚠
p.Pro489Leu Single submitter ⚠
p.Pro87Arg Single submitter ⚠
p.Ser1066Gly Single submitter ⚠
p.Ser117Gly Single submitter ⚠
p.Ser1537Gly Single submitter ⚠
p.Ser1641Thr Single submitter ⚠
p.Ser1662Ala Single submitter ⚠
p.Ser1672Phe Single submitter ⚠
p.Ser1676Leu Single submitter ⚠
p.Ser1751Leu Single submitter ⚠
p.Ser1781Leu Single submitter ⚠
p.Ser1782Leu Single submitter ⚠
p.Ser183Asn Single submitter ⚠
p.Ser1844Leu Single submitter ⚠
p.Ser1879Leu Single submitter ⚠
p.Ser29Thr Single submitter ⚠
p.Ser319Leu Single submitter ⚠
p.Ser462Asn Single submitter ⚠
p.Ser626Phe Single submitter ⚠
p.Ser648Phe Single submitter ⚠
p.Thr1118Met Single submitter ⚠
p.Thr1486Ile Single submitter ⚠
p.Thr1846Ala Single submitter ⚠
p.Thr1873Ala Single submitter ⚠
p.Thr50Met Single submitter ⚠
p.Thr533Ile Single submitter ⚠
p.Thr587Met Single submitter ⚠
p.Thr627Met Single submitter ⚠
p.Thr694Met Single submitter ⚠
p.Thr920Ser Single submitter ⚠
p.Thr934Pro Single submitter ⚠
p.Thr95Lys Single submitter ⚠
p.Thr980Ser Single submitter ⚠
p.Tyr1380Cys Single submitter ⚠
p.Tyr1832His Single submitter ⚠
p.Tyr247His Single submitter ⚠
p.Tyr259His Single submitter ⚠
p.Tyr450Cys Single submitter ⚠
p.Tyr46Cys Single submitter ⚠
p.Val1001Ile Single submitter ⚠
p.Val118Gly Single submitter ⚠
p.Val1195Ile Single submitter ⚠
p.Val1350Ile Single submitter ⚠
p.Val1377Leu Single submitter ⚠
p.Val1503Phe Single submitter ⚠
p.Val1635Ile Single submitter ⚠
p.Val1778Leu Single submitter ⚠
p.Val1816Met Single submitter ⚠
p.Val1829Leu Single submitter ⚠
p.Val1885Leu Single submitter ⚠
p.Val1885Met Single submitter ⚠
p.Val281Met Single submitter ⚠
p.Val332Ala Single submitter ⚠
p.Val502Met Single submitter ⚠
p.Val518Met Single submitter ⚠
p.Val525Ile Single submitter ⚠
p.Val812Ile Single submitter ⚠
p.Pro750Leu No assertion criteria ⚠