DOP1A — 251 ClinVar variants

All ClinVar germline DOP1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →

7 Likely benign · 244 Uncertain significance

Full DOP1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 225

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 172

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 172

Predictors split 53

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

All DOP1A variants

Likely benign 7

p.Val656Ile Multiple submitters
c.6130-8T>C Single submitter
c.7093-1193del Single submitter
p.Arg774His Single submitter
p.Asn1359Ser Single submitter
p.Ile1790Val Single submitter
p.Thr1842= Single submitter

Uncertain significance 244

c.320+2T>C Single submitter
c.7092+1768A>G Single submitter
c.781-6_787del Single submitter
p.Ala1133Thr Single submitter ⚠
p.Ala1476Thr Single submitter ⚠
p.Ala1508Val Single submitter ⚠
p.Ala1548Val Single submitter ⚠
p.Ala1791Val Single submitter ⚠
p.Ala1792Thr Single submitter ⚠
p.Ala1794Thr Single submitter ⚠
p.Ala1851Val Single submitter ⚠
p.Ala24Thr Single submitter ⚠
p.Ala550Gly Single submitter ⚠
p.Ala662Val Single submitter ⚠
p.Ala669Pro Single submitter ⚠
p.Ala746Val Single submitter ⚠
p.Ala749Gly Single submitter ⚠
p.Ala83Val Single submitter ⚠
p.Ala934Thr Single submitter ⚠
p.Arg1013His Single submitter ⚠
p.Arg1588Gly Single submitter ⚠
p.Arg1688Ser Single submitter ⚠
p.Arg1758His Single submitter ⚠
p.Arg196Cys Single submitter ⚠
p.Arg1993Gly Single submitter ⚠
p.Arg1993Ter Single submitter
p.Arg1994Gln Single submitter ⚠
p.Arg2132Gly Single submitter ⚠
p.Arg2132Lys Single submitter ⚠
p.Arg2152His Single submitter ⚠
p.Arg2266Trp Single submitter ⚠
p.Arg2323Ter Single submitter
p.Arg2354Leu Single submitter ⚠
p.Arg2360Trp Single submitter
p.Arg2391Cys Single submitter ⚠
p.Arg2391His Single submitter ⚠
p.Arg263Gln Single submitter ⚠
p.Arg263Ter Single submitter
p.Arg305Gly Single submitter ⚠
p.Arg512Lys Single submitter ⚠
p.Arg612Gln Single submitter ⚠
p.Arg664Leu Single submitter ⚠
p.Arg774Cys Single submitter ⚠
p.Arg853Gly Single submitter
p.Arg953Cys Single submitter
p.Arg953His Single submitter
p.Arg992Gln Single submitter ⚠
p.Asn1067Lys Single submitter ⚠
p.Asn1409Ser Single submitter ⚠
p.Asn1444Asp Single submitter ⚠
p.Asn1689Asp Single submitter ⚠
p.Asn1689Ser Single submitter
p.Asn2166His Single submitter ⚠
p.Asn2166Thr Single submitter ⚠
p.Asn2296Ser Single submitter ⚠
p.Asn591Asp Single submitter ⚠
p.Asn860Ser Single submitter ⚠
p.Asp1307Tyr Single submitter ⚠
p.Asp1327Gly Single submitter ⚠
p.Asp1348Asn Single submitter ⚠
p.Asp1478Asn Single submitter ⚠
p.Asp1517Val Single submitter ⚠
p.Asp1966Glu Single submitter ⚠
p.Asp1969Glu Single submitter ⚠
p.Asp481Asn Single submitter ⚠
p.Asp884Tyr Single submitter ⚠
p.Cys1531Tyr Single submitter ⚠
p.Cys1900Ser Single submitter ⚠
p.Cys2127Arg Single submitter ⚠
p.Gln2173Arg Single submitter ⚠
p.Gln404Lys Single submitter ⚠
p.Gln455His Single submitter ⚠
p.Gln508His Single submitter ⚠
p.Gln807His Single submitter ⚠
p.Gln983Glu Single submitter ⚠
p.Gln983His Single submitter ⚠
p.Glu1017Lys Single submitter ⚠
p.Glu1087Gly Single submitter ⚠
p.Glu1176Lys Single submitter ⚠
p.Glu1289Lys Single submitter
p.Glu1615Gly Single submitter ⚠
p.Glu1987Gln Single submitter ⚠
p.Glu2043Lys Single submitter ⚠
p.Glu2257Lys Single submitter ⚠
p.Glu466Lys Single submitter ⚠
p.Glu496Gly Single submitter ⚠
p.Glu639Ala Single submitter ⚠
p.Glu731Asp Single submitter ⚠
p.Glu756Ala Single submitter ⚠
p.Glu830Lys Single submitter ⚠
p.Glu830Val Single submitter
p.Gly1224Ser Single submitter ⚠
p.Gly1295Ala Single submitter ⚠
p.Gly1760Arg Single submitter ⚠
p.Gly1816Asp Single submitter ⚠
p.Gly187Asp Single submitter ⚠
p.Gly2008Glu Single submitter ⚠
p.Gly2417Glu Single submitter ⚠
p.Gly342Ala Single submitter ⚠
p.Gly459Ala Single submitter ⚠
p.Gly601Val Single submitter
p.Gly727Arg Single submitter ⚠
p.His1225Pro Single submitter ⚠
p.His1246Tyr Single submitter ⚠
p.His1249Asp Single submitter ⚠
p.His1445Tyr Single submitter ⚠
p.His1471Asp Single submitter ⚠
p.His1822Arg Single submitter
p.His206Arg Single submitter ⚠
p.His206Leu Single submitter ⚠
p.His525Gln Single submitter ⚠
p.His784Arg Single submitter ⚠
p.Ile1065Thr Single submitter ⚠
p.Ile1089Met Single submitter ⚠
p.Ile1241Val Single submitter ⚠
p.Ile1490Leu Single submitter ⚠
p.Ile1565Thr Single submitter ⚠
p.Ile1565Val Single submitter ⚠
p.Ile1694Phe Single submitter ⚠
p.Ile1694Val Single submitter ⚠
p.Ile1764Val Single submitter ⚠
p.Ile1790Thr Single submitter ⚠
p.Ile219Val Single submitter ⚠
p.Ile224Met Single submitter ⚠
p.Ile224Val Single submitter ⚠
p.Ile2264Val Single submitter ⚠
p.Ile2387Met Single submitter ⚠
p.Ile356Val Single submitter ⚠
p.Ile539Val Single submitter ⚠
p.Ile631Thr Single submitter ⚠
p.Ile914Thr Single submitter ⚠
p.Ile914Val Single submitter ⚠
p.Leu1164Val Single submitter ⚠
p.Leu1459Phe Single submitter ⚠
p.Leu1693Val Single submitter ⚠
p.Leu1746Phe Single submitter ⚠
p.Leu1801Phe Single submitter ⚠
p.Leu1927Phe Single submitter ⚠
p.Leu1958Phe Single submitter ⚠
p.Leu204Val Single submitter
p.Leu2459Met Single submitter ⚠
p.Leu540Val Single submitter ⚠
p.Leu691Phe Single submitter ⚠
p.Leu841Phe Single submitter ⚠
p.Leu903Ile Single submitter ⚠
p.Leu939Arg Single submitter ⚠
p.Leu943Ile Single submitter ⚠
p.Leu943Pro Single submitter ⚠
p.Leu997Val Single submitter ⚠
p.Leu998Ile Single submitter ⚠
p.Lys1053Glu Single submitter ⚠
p.Lys1141Arg Single submitter ⚠
p.Lys1183Asn Single submitter ⚠
p.Lys1259Ile Single submitter ⚠
p.Lys1319Arg Single submitter ⚠
p.Lys1673Arg Single submitter ⚠
p.Met1180Val Single submitter ⚠
p.Met1485Thr Single submitter ⚠
p.Met2254Lys Single submitter ⚠
p.Met2453Thr Single submitter ⚠
p.Met332Ile Single submitter ⚠
p.Met962Thr Single submitter ⚠
p.Phe1096Ile Single submitter ⚠
p.Phe1905Leu Single submitter ⚠
p.Pro1004Ser Single submitter ⚠
p.Pro1059Ser Single submitter ⚠
p.Pro1182Thr Single submitter ⚠
p.Pro1239Ala Single submitter ⚠
p.Pro1294Arg Single submitter ⚠
p.Pro1352Ser Single submitter ⚠
p.Pro153Arg Single submitter ⚠
p.Pro198Ser Single submitter ⚠
p.Pro2002Thr Single submitter ⚠
p.Pro2030Thr Single submitter
p.Pro2118Ser Single submitter ⚠
p.Pro397Leu Single submitter ⚠
p.Pro787Ser Single submitter ⚠
p.Pro887Leu Single submitter ⚠
p.Ser1042Gly Single submitter ⚠
p.Ser1123Arg Single submitter ⚠
p.Ser1162Asn Single submitter ⚠
p.Ser1162Gly Single submitter ⚠
p.Ser1185Gly Single submitter ⚠
p.Ser1251Thr Single submitter ⚠
p.Ser1252Pro Single submitter ⚠
p.Ser1277Pro Single submitter ⚠
p.Ser1281Leu Single submitter ⚠
p.Ser1281Thr Single submitter ⚠
p.Ser1326Asn Single submitter ⚠
p.Ser1336Cys Single submitter
p.Ser1347Asn Single submitter ⚠
p.Ser1404Ala Single submitter ⚠
p.Ser1544Gly Single submitter ⚠
p.Ser1544Thr Single submitter ⚠
p.Ser1853Arg Single submitter ⚠
p.Ser1920Thr Single submitter ⚠
p.Ser192Ile Single submitter ⚠
p.Ser1935Asn Single submitter ⚠
p.Ser2086Arg Single submitter ⚠
p.Ser2286Thr Single submitter ⚠
p.Ser2331Ala Single submitter ⚠
p.Ser238Thr Single submitter ⚠
p.Ser527Pro Single submitter ⚠
p.Ser560Thr Single submitter ⚠
p.Ser565Leu Single submitter ⚠
p.Ser600Cys Single submitter ⚠
p.Ser621Gly Single submitter ⚠
p.Ser719Leu Single submitter ⚠
p.Ser805Arg Single submitter ⚠
p.Ser954Cys Single submitter ⚠
p.Ser958Leu Single submitter ⚠
p.Thr1006Ala Single submitter ⚠
p.Thr1245Ile Single submitter ⚠
p.Thr1701Ile Single submitter ⚠
p.Thr1739Ala Single submitter ⚠
p.Thr1797Ala Single submitter ⚠
p.Thr1843Asn Single submitter ⚠
p.Thr1843Ile Single submitter ⚠
p.Thr2025Asn Single submitter ⚠
p.Thr2242Ala Single submitter ⚠
p.Thr321Ile Single submitter ⚠
p.Thr394Ala Single submitter ⚠
p.Thr394Ile Single submitter ⚠
p.Thr470Ser Single submitter ⚠
p.Tyr162Ser Single submitter
p.Tyr182Cys Single submitter ⚠
p.Tyr2279Phe Single submitter ⚠
p.Tyr2289His Single submitter ⚠
p.Tyr2298His Single submitter ⚠
p.Tyr2298Ser Single submitter ⚠
p.Tyr863Cys Single submitter ⚠
p.Val1072Met Single submitter ⚠
p.Val1679Ala Single submitter ⚠
p.Val1970Ile Single submitter ⚠
p.Val2044Ala Single submitter ⚠
p.Val2073Met Single submitter ⚠
p.Val2390Met Single submitter ⚠
p.Val476Met Single submitter ⚠
p.Val806Ile Single submitter ⚠
p.Val809Gly Single submitter ⚠
p.Val835Leu Single submitter ⚠
p.Val874Glu Single submitter ⚠
p.Val913Ile Single submitter ⚠
p.Val984Ile Single submitter ⚠