DOCK9 — 243 ClinVar variants

All ClinVar germline DOCK9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →

1 Conflicting · 4 Benign · 1 Benign/Likely benign · 11 Likely benign · 226 Uncertain significance

Full DOCK9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 227

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 agree, ClinVar conflicts 1

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

DOCK9 p.Ser757Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 133

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

Predictors split 93

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

All DOCK9 variants

Conflicting classifications of pathogenicity 1

p.Ser757Ala Single submitter ⚠

Benign 4

p.Ala434Val Multiple submitters
p.Asn1709= Multiple submitters
p.Leu1435= Multiple submitters
p.Glu859= Single submitter

Benign/Likely benign 1

p.Cys2012= Multiple submitters

Likely benign 11

c.334-3T>C Single submitter
c.5023+901T>A Single submitter
p.Ala917= Single submitter
p.Asn1613= Single submitter
p.Glu907= Single submitter
p.Leu1133Val Single submitter
p.Leu23= Single submitter
p.Pro1211= Single submitter
p.Thr1890= Single submitter
p.Thr431= Single submitter
p.Thr744= Single submitter

Uncertain significance 226

c.5023+908C>T Single submitter ⚠
c.5023+919C>T Single submitter ⚠
c.5023+952C>T Single submitter ⚠
c.5367+706T>A Single submitter ⚠
p.Ala100Ser Single submitter ⚠
p.Ala1021Thr Single submitter ⚠
p.Ala1053Val Single submitter ⚠
p.Ala1153Gly Single submitter ⚠
p.Ala1162Thr Single submitter ⚠
p.Ala1191Thr Single submitter ⚠
p.Ala1191Val Single submitter ⚠
p.Ala1317Gly Single submitter ⚠
p.Ala1325Pro Single submitter ⚠
p.Ala1494Val Single submitter ⚠
p.Ala1498Val Single submitter ⚠
p.Ala1499Val Single submitter ⚠
p.Ala1683Thr Single submitter ⚠
p.Ala1763Ser Single submitter ⚠
p.Ala1849Val Single submitter ⚠
p.Ala2017Val Single submitter ⚠
p.Ala2036Val Single submitter ⚠
p.Ala2042Val Single submitter ⚠
p.Ala285Gly Single submitter ⚠
p.Ala664Val Single submitter ⚠
p.Ala778Val Single submitter ⚠
p.Ala841Val Single submitter ⚠
p.Ala857Val Single submitter ⚠
p.Ala917Thr Single submitter ⚠
p.Ala98Val Single submitter ⚠
p.Arg1012Gln Single submitter ⚠
p.Arg1038Lys Single submitter ⚠
p.Arg1069His Single submitter ⚠
p.Arg1129Trp Single submitter ⚠
p.Arg1178Gln Single submitter ⚠
p.Arg1267Gly Single submitter ⚠
p.Arg135Gln Single submitter ⚠
p.Arg1580Gln Single submitter ⚠
p.Arg1597Ser Single submitter ⚠
p.Arg1599His Single submitter ⚠
p.Arg1673Trp Single submitter ⚠
p.Arg1729His Single submitter ⚠
p.Arg1747Trp Single submitter ⚠
p.Arg1879His Single submitter ⚠
p.Arg1880Cys Single submitter ⚠
p.Arg1880His Single submitter ⚠
p.Arg1903Trp Single submitter ⚠
p.Arg1948Gln Single submitter ⚠
p.Arg2021His Single submitter ⚠
p.Arg2021Leu Single submitter ⚠
p.Arg911Lys Single submitter ⚠
p.Arg984Gln Single submitter ⚠
p.Asn1022Ser Single submitter ⚠
p.Asn1248Ser Single submitter ⚠
p.Asn1829Lys Single submitter ⚠
p.Asn1840Ile Single submitter ⚠
p.Asn1877His Single submitter ⚠
p.Asn282Ser Single submitter ⚠
p.Asn554Ser Single submitter ⚠
p.Asn640Ser Single submitter ⚠
p.Asp1096Glu Single submitter ⚠
p.Asp1259Glu Single submitter ⚠
p.Asp1641Asn Single submitter ⚠
p.Asp1652Asn Single submitter ⚠
p.Asp1692Asn Single submitter ⚠
p.Asp1722Glu Single submitter ⚠
p.Asp1735Asn Single submitter ⚠
p.Asp1735Gly Single submitter ⚠
p.Asp1735Val Single submitter ⚠
p.Asp2026Asn Single submitter ⚠
p.Asp294Asn Single submitter ⚠
p.Asp52Gly Single submitter ⚠
p.Asp711Asn Single submitter ⚠
p.Asp964His Single submitter ⚠
p.Asp964Tyr Single submitter ⚠
p.Cys1051Tyr Single submitter ⚠
p.Cys1291Ser Single submitter ⚠
p.Cys1497Phe Single submitter ⚠
p.Cys1912Tyr Single submitter ⚠
p.Cys371Gly Single submitter ⚠
p.Cys371Ser Single submitter ⚠
p.Gln105Glu Single submitter ⚠
p.Gln136Arg Single submitter ⚠
p.Gln1704His Single submitter ⚠
p.Gln2007Arg Single submitter ⚠
p.Gln239Lys Single submitter ⚠
p.Gln288Pro Single submitter ⚠
p.Gln825His Single submitter ⚠
p.Gln832Arg Single submitter ⚠
p.Gln883Arg Single submitter ⚠
p.Gln900Arg Single submitter ⚠
p.Gln900Leu Single submitter ⚠
p.Glu1127Lys Single submitter ⚠
p.Glu1468Val Single submitter ⚠
p.Glu1616Ala Single submitter ⚠
p.Glu1898Lys Single submitter ⚠
p.Glu2020Lys Single submitter ⚠
p.Glu2044Asp Single submitter ⚠
p.Glu355Asp Single submitter ⚠
p.Glu789Gly Single submitter ⚠
p.Glu884Ala Single submitter ⚠
p.Gly132Glu Single submitter ⚠
p.Gly1896Arg Single submitter ⚠
p.Gly308Asp Single submitter ⚠
p.Gly440Glu Single submitter ⚠
p.Gly688Val Single submitter ⚠
p.Gly765Arg Single submitter ⚠
p.Gly783Ser Single submitter ⚠
p.Gly860Ser Single submitter ⚠
p.His1023Arg Single submitter ⚠
p.His1278Arg Single submitter ⚠
p.His1445Tyr Single submitter ⚠
p.His1911Arg Single submitter ⚠
p.His1926Gln Single submitter ⚠
p.His725Tyr Single submitter ⚠
p.His815Arg Single submitter ⚠
p.His828Tyr Single submitter ⚠
p.His994Arg Single submitter ⚠
p.Ile1136Val Single submitter ⚠
p.Ile1144Arg Single submitter ⚠
p.Ile1232Thr Single submitter ⚠
p.Ile1418Val Single submitter ⚠
p.Ile1571Val Single submitter ⚠
p.Ile1691Leu Single submitter ⚠
p.Ile1813Val Single submitter ⚠
p.Ile472Val Single submitter ⚠
p.Ile665Val Single submitter ⚠
p.Ile713Thr Single submitter ⚠
p.Leu1060Phe Single submitter ⚠
p.Leu1097Phe Single submitter ⚠
p.Leu1264Phe Single submitter ⚠
p.Leu1307Phe Single submitter ⚠
p.Leu1307Val Single submitter ⚠
p.Leu1395Val Single submitter ⚠
p.Leu147Phe Single submitter ⚠
p.Leu1978Pro Single submitter ⚠
p.Leu337His Single submitter ⚠
p.Leu347Val Single submitter ⚠
p.Leu974Ser Single submitter ⚠
p.Lys1030Arg Single submitter ⚠
p.Lys1271Arg Single submitter ⚠
p.Lys1627Arg Single submitter ⚠
p.Lys1726Arg Single submitter ⚠
p.Lys1819Arg Single submitter ⚠
p.Lys328Gln Single submitter ⚠
p.Lys370Glu Single submitter ⚠
p.Lys714Glu Single submitter ⚠
p.Lys836Arg Single submitter ⚠
p.Lys919Glu Single submitter ⚠
p.Lys979Arg Single submitter ⚠
p.Met1004Thr Single submitter ⚠
p.Met1084Val Single submitter ⚠
p.Met1304Ile Single submitter ⚠
p.Met1304Val Single submitter ⚠
p.Met1331Thr Single submitter ⚠
p.Met1347Ile Single submitter ⚠
p.Met1347Lys Single submitter ⚠
p.Met1698Thr Single submitter ⚠
p.Met1703Ile Single submitter ⚠
p.Met494Ile Single submitter ⚠
p.Met561Thr Single submitter ⚠
p.Met72Val Single submitter ⚠
p.Phe1040Tyr Single submitter ⚠
p.Phe1067Tyr Single submitter ⚠
p.Phe1148Ser Single submitter ⚠
p.Phe359Leu Single submitter ⚠
p.Phe473Leu Single submitter ⚠
p.Phe692Val Single submitter ⚠
p.Pro1079Leu Single submitter ⚠
p.Pro138Leu Single submitter ⚠
p.Pro1615Thr Single submitter ⚠
p.Pro1809Leu Single submitter ⚠
p.Pro316Leu Single submitter ⚠
p.Pro458Ala Single submitter ⚠
p.Pro458Leu Single submitter ⚠
p.Pro626Arg Single submitter ⚠
p.Pro798Leu Single submitter ⚠
p.Pro808Ser Single submitter ⚠
p.Ser1102Leu Single submitter ⚠
p.Ser1137Gly Single submitter ⚠
p.Ser1199Phe Single submitter ⚠
p.Ser1260Leu Single submitter ⚠
p.Ser1269Asn Single submitter ⚠
p.Ser1326Thr Single submitter ⚠
p.Ser1328Tyr Single submitter ⚠
p.Ser1337Thr Single submitter ⚠
p.Ser1394Cys Single submitter ⚠
p.Ser1412Ala Single submitter ⚠
p.Ser169Phe Single submitter ⚠
p.Ser32Asn Single submitter ⚠
p.Ser331Arg Single submitter ⚠
p.Ser401Tyr Single submitter ⚠
p.Ser496Asn Single submitter ⚠
p.Ser613Asn Single submitter ⚠
p.Ser777Leu Single submitter ⚠
p.Ser782Leu Single submitter ⚠
p.Ser908Arg Single submitter ⚠
p.Thr1258Arg Single submitter ⚠
p.Thr1429Met Single submitter ⚠
p.Thr1476Ile Single submitter ⚠
p.Thr1488Ile Single submitter ⚠
p.Thr1517Met Single submitter ⚠
p.Thr1759Met Single submitter ⚠
p.Thr632Asn Single submitter ⚠
p.Thr82Met Single submitter ⚠
p.Tyr1308Cys Single submitter ⚠
p.Tyr1483Cys Single submitter ⚠
p.Tyr314Cys Single submitter ⚠
p.Tyr918Cys Single submitter ⚠
p.Val1070Gly Single submitter ⚠
p.Val1071Ala Single submitter ⚠
p.Val1176Ile Single submitter ⚠
p.Val1195Met Single submitter ⚠
p.Val1288Leu Single submitter ⚠
p.Val1339Ile Single submitter ⚠
p.Val1546Ile Single submitter ⚠
p.Val1557Ile Single submitter ⚠
p.Val1648Ala Single submitter ⚠
p.Val1661Ile Single submitter ⚠
p.Val191Leu Single submitter ⚠
p.Val266Leu Single submitter ⚠
p.Val398Ile Single submitter ⚠
p.Val58Ile Single submitter ⚠
p.Val644Ala Single submitter ⚠
p.Val750Phe Single submitter ⚠
p.Val931Met Single submitter ⚠
p.Val965Ile Single submitter ⚠