DOCK11 — 214 ClinVar variants

All ClinVar germline DOCK11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →

9 Pathogenic · 5 Likely pathogenic · 2 Conflicting · 7 Benign · 10 Likely benign · 181 Uncertain significance

Full DOCK11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 186

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

Predictors vs ClinVar 4

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

DOCK11 p.Arg1885Cys Likely pathogenic Single submitter
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
DOCK11 p.Arg1366Gln Pathogenic No assertion criteria
DOCK11 deficiency
DOCK11 p.His1336Arg Pathogenic No assertion criteria
DOCK11 deficiency
DOCK11 p.Thr275Ser Pathogenic No assertion criteria
DOCK11 deficiency

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 112

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

Predictors split 68

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

All DOCK11 variants

Pathogenic 9

c.1718+5G>A Single submitter Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia
p.Glu26Ter Single submitter Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia
p.Trp1707Ser Single submitter Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia ⚠
p.Arg1366Gln No assertion criteria DOCK11 deficiency ⚠
p.Asp414Tyr No assertion criteria DOCK11 deficiency
p.His1336Arg No assertion criteria DOCK11 deficiency ⚠
p.Leu1298Arg No assertion criteria DOCK11 deficiency ⚠
p.Leu1706Ser No assertion criteria DOCK11 deficiency
p.Thr275Ser No assertion criteria DOCK11 deficiency ⚠

Likely pathogenic 5

c.392+1G>A Single submitter
c.4582-1G>A Single submitter
p.Arg1885Cys Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked ⚠
p.Ser1793fs Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked
p.Tyr108Cys Single submitter Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia

Conflicting classifications of pathogenicity 2

p.Arg1273Cys Single submitter ⚠
p.His250Arg Single submitter ⚠

Benign 7

p.Gln866Arg Multiple submitters
c.2949+3A>T Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked
c.3665-7T>C Single submitter
p.Leu252= Single submitter
p.Lys1756Arg Single submitter
p.Val1096= Single submitter
p.Val166= Single submitter

Likely benign 10

p.Ser842Leu Multiple submitters
p.Arg79His Single submitter ⚠
p.Leu1166= Single submitter
p.Phe1513= Single submitter
p.Pro2044= Single submitter
p.Thr1809Met Single submitter
p.Thr433Ala Single submitter
p.Thr8= Single submitter
p.Thr940= Single submitter
p.Tyr652= Single submitter

Uncertain significance 181

p.Ala1665Val Multiple submitters ⚠
c.3180+3A>G Single submitter
p.Ala1004Glu Single submitter ⚠
p.Ala1197Val Single submitter ⚠
p.Ala1222Val Single submitter ⚠
p.Ala1333Thr Single submitter ⚠
p.Ala1566Val Single submitter ⚠
p.Ala1571Val Single submitter ⚠
p.Ala225Ser Single submitter ⚠
p.Ala401Ser Single submitter DOCK11-related disorder ⚠
p.Ala528Thr Single submitter ⚠
p.Ala678Thr Single submitter ⚠
p.Ala807Glu Single submitter ⚠
p.Ala927Gly Single submitter ⚠
p.Arg1033Cys Single submitter ⚠
p.Arg1095Trp Single submitter ⚠
p.Arg1180Gln Single submitter ⚠
p.Arg1184Gln Single submitter ⚠
p.Arg1260Gln Single submitter ⚠
p.Arg1357Ter Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked
p.Arg1366Trp Single submitter ⚠
p.Arg1523Ser Single submitter ⚠
p.Arg1711His Single submitter ⚠
p.Arg1729Cys Single submitter ⚠
p.Arg1729His Single submitter ⚠
p.Arg1730His Single submitter ⚠
p.Arg1862Thr Single submitter ⚠
p.Arg236Cys Single submitter ⚠
p.Arg459Cys Single submitter ⚠
p.Arg81His Single submitter ⚠
p.Asn1100His Single submitter ⚠
p.Asn141Ile Single submitter ⚠
p.Asn1555Ser Single submitter ⚠
p.Asn1556Ser Single submitter ⚠
p.Asn385Ser Single submitter ⚠
p.Asn470Thr Single submitter ⚠
p.Asn599Ser Single submitter ⚠
p.Asn881Ser Single submitter ⚠
p.Asp1018Asn Single submitter ⚠
p.Asp1200Gly Single submitter ⚠
p.Asp1843Gly Single submitter ⚠
p.Asp1916Asn Single submitter ⚠
p.Asp2022Gly Single submitter ⚠
p.Asp332fs Single submitter
p.Asp414Gly Single submitter ⚠
p.Asp501Val Single submitter ⚠
p.Asp59Asn Single submitter ⚠
p.Asp765Gly Single submitter ⚠
p.Cys1190Tyr Single submitter ⚠
p.Cys1418Arg Single submitter ⚠
p.Cys1883Gly Single submitter ⚠
p.Cys409Tyr Single submitter ⚠
p.Cys492Ser Single submitter ⚠
p.Cys633Gly Single submitter ⚠
p.Cys855Arg Single submitter ⚠
p.Gln1252Arg Single submitter ⚠
p.Gln1270Lys Single submitter ⚠
p.Gln1276Arg Single submitter ⚠
p.Gln1930Lys Single submitter ⚠
p.Gln22Arg Single submitter ⚠
p.Gln258Arg Single submitter ⚠
p.Gln463Arg Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked ⚠
p.Gln724Lys Single submitter ⚠
p.Gln874Lys Single submitter ⚠
p.Glu1019Lys Single submitter ⚠
p.Glu1514Ala Single submitter ⚠
p.Glu1717Asp Single submitter ⚠
p.Glu1731Gly Single submitter ⚠
p.Glu1853Ala Single submitter ⚠
p.Glu26Val Single submitter ⚠
p.Glu41Gln Single submitter ⚠
p.Glu447Lys Single submitter ⚠
p.Glu482Val Single submitter ⚠
p.Glu848Asp Single submitter ⚠
p.Gly1345Arg Single submitter ⚠
p.Gly164Asp Single submitter ⚠
p.Gly2064Asp Single submitter ⚠
p.Gly907Asp Single submitter ⚠
p.His1156Gln Single submitter ⚠
p.His1156Pro Single submitter ⚠
p.His1230Arg Single submitter ⚠
p.His1343Tyr Single submitter ⚠
p.His1392Tyr Single submitter ⚠
p.His1754Arg Single submitter ⚠
p.His491Gln Single submitter ⚠
p.His833Gln Single submitter ⚠
p.His995Arg Single submitter ⚠
p.His999Tyr Single submitter ⚠
p.Ile1005Val Single submitter ⚠
p.Ile139Thr Single submitter ⚠
p.Ile146Val Single submitter ⚠
p.Ile1902Phe Single submitter ⚠
p.Ile461Met Single submitter ⚠
p.Ile475Met Single submitter ⚠
p.Ile534Thr Single submitter ⚠
p.Ile564Met Single submitter ⚠
p.Ile72Val Single submitter ⚠
p.Ile739Phe Single submitter ⚠
p.Ile739Thr Single submitter ⚠
p.Ile74Val Single submitter ⚠
p.Ile899Thr Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked ⚠
p.Ile916Val Single submitter ⚠
p.Ile944Val Single submitter ⚠
p.Leu1144Ile Single submitter ⚠
p.Leu1340Pro Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked ⚠
p.Leu1356Phe Single submitter ⚠
p.Leu1508Ser Single submitter ⚠
p.Leu1932Phe Single submitter ⚠
p.Leu428Pro Single submitter ⚠
p.Leu551Arg Single submitter ⚠
p.Leu643Met Single submitter ⚠
p.Leu729Val Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked ⚠
p.Leu781His Single submitter ⚠
p.Leu875Phe Single submitter ⚠
p.Leu896Phe Single submitter ⚠
p.Lys1162Thr Single submitter ⚠
p.Lys132Glu Single submitter ⚠
p.Lys36Arg Single submitter ⚠
p.Lys656Arg Single submitter ⚠
p.Lys725Arg Single submitter ⚠
p.Met1086Leu Single submitter ⚠
p.Met1327Thr Single submitter ⚠
p.Met1986Thr Single submitter ⚠
p.Met2041Leu Single submitter ⚠
p.Met859Val Single submitter ⚠
p.Met864Ile Single submitter autoinflammatory disease, multisystem, with immune dysregulation, X-linked ⚠
p.Met972Arg Single submitter ⚠
p.Met972Val Single submitter ⚠
p.Phe1114Leu Single submitter ⚠
p.Phe1652Val Single submitter ⚠
p.Phe1842Leu Single submitter ⚠
p.Phe1865Leu Single submitter ⚠
p.Phe67Leu Single submitter ⚠
p.Phe732Ile Single submitter ⚠
p.Pro1243Gln Single submitter ⚠
p.Pro1914Leu Single submitter ⚠
p.Pro233Ser Single submitter ⚠
p.Pro389Ser Single submitter ⚠
p.Pro446Ser Single submitter ⚠
p.Pro925Leu Single submitter ⚠
p.Ser1055Asn Single submitter ⚠
p.Ser1196Phe Single submitter ⚠
p.Ser1214Asn Single submitter ⚠
p.Ser1495Arg Single submitter ⚠
p.Ser1542Gly Single submitter ⚠
p.Ser157Cys Single submitter ⚠
p.Ser1934Ala Single submitter ⚠
p.Ser1935Phe Single submitter ⚠
p.Ser1970Asn Single submitter ⚠
p.Ser207Pro Single submitter ⚠
p.Ser214Thr Single submitter ⚠
p.Ser217Leu Single submitter ⚠
p.Ser448Pro Single submitter ⚠
p.Ser560Ala Single submitter ⚠
p.Ser560Leu Single submitter ⚠
p.Ser560Val Single submitter
p.Ser75Leu Single submitter ⚠
p.Thr110Arg Single submitter ⚠
p.Thr1221Ser Single submitter ⚠
p.Thr1402Ser Single submitter ⚠
p.Thr1790Asn Single submitter ⚠
p.Thr1809Ala Single submitter ⚠
p.Thr285Met Single submitter ⚠
p.Thr288Ala Single submitter ⚠
p.Thr322Asn Single submitter ⚠
p.Thr770Ala Single submitter ⚠
p.Trp529Leu Single submitter ⚠
p.Tyr1050His Single submitter ⚠
p.Tyr1188Cys Single submitter ⚠
p.Tyr1271Cys Single submitter ⚠
p.Tyr1515Ser Single submitter ⚠
p.Tyr1784Cys Single submitter ⚠
p.Tyr822Cys Single submitter ⚠
p.Tyr960His Single submitter ⚠
p.Val1319Ile Single submitter ⚠
p.Val1451Met Single submitter ⚠
p.Val1723Leu Single submitter ⚠
p.Val40Phe Single submitter ⚠
p.Val76Met Single submitter ⚠
p.Val799Met Single submitter ⚠
p.Val888Ile Single submitter ⚠