DDX60L — 255 ClinVar variants

All ClinVar germline DDX60L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →

1 Benign · 23 Likely benign · 231 Uncertain significance

Full DDX60L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 224

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 190

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 190

Predictors split 34

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

All DDX60L variants

Benign 1

c.3811-6del Single submitter

Likely benign 23

p.Ala1058= Single submitter
p.Ala797Thr Single submitter
p.Arg1223Met Single submitter
p.Arg1229Gln Single submitter
p.Arg324Lys Single submitter
p.Arg545Gln Single submitter
p.Asn1438Ser Single submitter
p.Asn581Lys Single submitter
p.Asp1665Val Single submitter
p.Glu1706Lys Single submitter
p.Glu453Lys Single submitter
p.Ile1590Val Single submitter
p.Ile500Thr Single submitter
p.Ile630Thr Single submitter
p.Ile84Val Single submitter
p.Lys1683Glu Single submitter
p.Met1517Thr Single submitter
p.Phe1259Leu Single submitter ⚠
p.Ser377Asn Single submitter
p.Ser570Asn Single submitter
p.Tyr1181His Single submitter
p.Val1600Ile Single submitter
p.Val794Ile Single submitter

Uncertain significance 231

p.Ala1049Gly Single submitter ⚠
p.Ala1058Ser Single submitter ⚠
p.Ala1279Val Single submitter ⚠
p.Ala1292Ser Single submitter ⚠
p.Ala1420Ser Single submitter ⚠
p.Ala1507Thr Single submitter ⚠
p.Ala1624Thr Single submitter ⚠
p.Ala1657Ser Single submitter ⚠
p.Ala210Thr Single submitter ⚠
p.Ala302Thr Single submitter ⚠
p.Ala370Pro Single submitter ⚠
p.Ala635Glu Single submitter ⚠
p.Ala680Pro Single submitter ⚠
p.Ala746Ser Single submitter ⚠
p.Ala825Gly Single submitter ⚠
p.Arg1177Thr Single submitter ⚠
p.Arg1309Cys Single submitter ⚠
p.Arg1675Cys Single submitter ⚠
p.Arg184Gly Single submitter ⚠
p.Arg273Lys Single submitter ⚠
p.Arg277Cys Single submitter ⚠
p.Arg277His Single submitter ⚠
p.Arg297Ser Single submitter ⚠
p.Arg316Pro Single submitter ⚠
p.Arg391Ser Single submitter ⚠
p.Arg509Gly Single submitter ⚠
p.Arg666Thr Single submitter ⚠
p.Arg735Gln Single submitter ⚠
p.Arg735Trp Single submitter ⚠
p.Arg811His Single submitter ⚠
p.Asn1055Asp Single submitter ⚠
p.Asn1168Thr Single submitter ⚠
p.Asn116Asp Single submitter ⚠
p.Asn1447Ser Single submitter ⚠
p.Asn1513Lys Single submitter ⚠
p.Asn1623Lys Single submitter ⚠
p.Asn1659Ser Single submitter ⚠
p.Asn1677Ile Single submitter ⚠
p.Asn171Ser Single submitter ⚠
p.Asn196Ser Single submitter ⚠
p.Asn355Ser Single submitter ⚠
p.Asn693Asp Single submitter ⚠
p.Asn745Thr Single submitter ⚠
p.Asn758Lys Single submitter ⚠
p.Asp130Tyr Single submitter ⚠
p.Asp1316Gly Single submitter
p.Asp1325His Single submitter ⚠
p.Asp1519Asn Single submitter ⚠
p.Asp1581Glu Single submitter ⚠
p.Asp362His Single submitter ⚠
p.Asp387Asn Single submitter ⚠
p.Asp387Tyr Single submitter ⚠
p.Asp44Gly Single submitter ⚠
p.Asp469Glu Single submitter ⚠
p.Asp690Tyr Single submitter ⚠
p.Asp936Glu Single submitter ⚠
p.Asp96Gly Single submitter ⚠
p.Asp976Tyr Single submitter ⚠
p.Asp977Asn Single submitter ⚠
p.Cys1551Ser Single submitter ⚠
p.Cys929Arg Single submitter ⚠
p.Gln1315Arg Single submitter ⚠
p.Gln1402His Single submitter ⚠
p.Gln1702His Single submitter ⚠
p.Gln216Lys Single submitter ⚠
p.Gln521Arg Single submitter ⚠
p.Gln748Arg Single submitter
p.Glu1033Gln Single submitter ⚠
p.Glu1059Gln Single submitter ⚠
p.Glu1212Gln Single submitter ⚠
p.Glu1430Lys Single submitter ⚠
p.Glu1691Gly Single submitter ⚠
p.Glu436Lys Single submitter ⚠
p.Glu506Gly Single submitter ⚠
p.Glu596Gln Single submitter ⚠
p.Gly1363Glu Single submitter ⚠
p.Gly1455Val Single submitter ⚠
p.Gly1476Arg Single submitter ⚠
p.Gly1566Glu Single submitter ⚠
p.Gly1599Ser Single submitter ⚠
p.Gly1617Arg Single submitter ⚠
p.Gly555Val Single submitter ⚠
p.Gly623Glu Single submitter ⚠
p.Gly714Arg Single submitter ⚠
p.Gly789Trp Single submitter ⚠
p.Gly79Arg Single submitter ⚠
p.Gly80Glu Single submitter ⚠
p.Gly824Ser Single submitter ⚠
p.His1138Arg Single submitter ⚠
p.His1283Pro Single submitter ⚠
p.His1427Arg Single submitter ⚠
p.His164Asp Single submitter ⚠
p.His1704Asn Single submitter ⚠
p.His306Tyr Single submitter ⚠
p.His356Tyr Single submitter ⚠
p.His382Tyr Single submitter ⚠
p.His639Arg Single submitter ⚠
p.His832Tyr Single submitter ⚠
p.His975Arg Single submitter ⚠
p.Ile1042Met Single submitter ⚠
p.Ile1110Val Single submitter ⚠
p.Ile1186Val Single submitter ⚠
p.Ile1594Phe Single submitter ⚠
p.Ile163Leu Single submitter ⚠
p.Ile389Val Single submitter ⚠
p.Ile593Thr Single submitter ⚠
p.Ile652Lys Single submitter ⚠
p.Ile728Val Single submitter ⚠
p.Ile763Thr Single submitter
p.Ile889Val Single submitter ⚠
p.Leu1005Val Single submitter ⚠
p.Leu107Phe Single submitter ⚠
p.Leu1154Ile Single submitter ⚠
p.Leu1348Pro Single submitter ⚠
p.Leu1354Met Single submitter ⚠
p.Leu1434Val Single submitter ⚠
p.Leu1501Val Single submitter ⚠
p.Leu1509Ser Single submitter ⚠
p.Leu1509Val Single submitter ⚠
p.Leu1525Pro Single submitter ⚠
p.Leu1556Ile Single submitter ⚠
p.Leu296Pro Single submitter ⚠
p.Leu435Phe Single submitter ⚠
p.Leu462Met Single submitter ⚠
p.Leu612Met Single submitter ⚠
p.Leu752Arg Single submitter ⚠
p.Leu75Ile Single submitter ⚠
p.Leu800Val Single submitter ⚠
p.Leu897Arg Single submitter ⚠
p.Lys1045Asn Single submitter ⚠
p.Lys1121Thr Single submitter ⚠
p.Lys1162Glu Single submitter ⚠
p.Lys1217Thr Single submitter ⚠
p.Lys1385Glu Single submitter ⚠
p.Lys1450Thr Single submitter ⚠
p.Lys1478Gln Single submitter ⚠
p.Lys529Thr Single submitter ⚠
p.Lys621Arg Single submitter ⚠
p.Lys915Glu Single submitter ⚠
p.Lys923Arg Single submitter ⚠
p.Lys974Arg Single submitter ⚠
p.Met1252Thr Single submitter
p.Met1284Ile Single submitter ⚠
p.Met1357Val Single submitter ⚠
p.Met1390Lys Single submitter ⚠
p.Met1620Thr Single submitter ⚠
p.Met1644Thr Single submitter ⚠
p.Met168Arg Single submitter ⚠
p.Met332Thr Single submitter ⚠
p.Met438Ile Single submitter ⚠
p.Met446Val Single submitter ⚠
p.Met597Ile Single submitter ⚠
p.Met656Ile Single submitter ⚠
p.Met657Thr Single submitter ⚠
p.Phe1148Leu Single submitter ⚠
p.Phe1264Val Single submitter ⚠
p.Phe1291Ser Single submitter ⚠
p.Phe1689Leu Single submitter ⚠
p.Phe230Tyr Single submitter ⚠
p.Phe422Ile Single submitter ⚠
p.Phe591Leu Single submitter ⚠
p.Phe999Leu Single submitter ⚠
p.Pro1226Leu Single submitter ⚠
p.Pro1285Ser Single submitter
p.Pro1340Leu Single submitter ⚠
p.Pro1347Leu Single submitter ⚠
p.Pro1366Ser Single submitter ⚠
p.Pro140Leu Single submitter ⚠
p.Pro1416Ala Single submitter ⚠
p.Pro1606Ser Single submitter ⚠
p.Pro445Thr Single submitter ⚠
p.Pro470Leu Single submitter ⚠
p.Pro668Thr Single submitter ⚠
p.Pro844Leu Single submitter
p.Pro893Leu Single submitter ⚠
p.Ser1145Thr Single submitter ⚠
p.Ser1198Ala Single submitter ⚠
p.Ser1288Cys Single submitter
p.Ser1400Phe Single submitter ⚠
p.Ser146Leu Single submitter ⚠
p.Ser1577Leu Single submitter ⚠
p.Ser1668Thr Single submitter ⚠
p.Ser257Leu Single submitter ⚠
p.Ser282Asn Single submitter ⚠
p.Ser315Phe Single submitter ⚠
p.Ser326Thr Single submitter ⚠
p.Ser508Cys Single submitter ⚠
p.Ser530Leu Single submitter ⚠
p.Ser554Cys Single submitter ⚠
p.Ser592Cys Single submitter ⚠
p.Ser647Leu Single submitter ⚠
p.Ser710Leu Single submitter ⚠
p.Ser972Pro Single submitter ⚠
p.Thr1004Asn Single submitter ⚠
p.Thr1006Ile Single submitter ⚠
p.Thr1202Met Single submitter ⚠
p.Thr14Ala Single submitter ⚠
p.Thr1547Ile Single submitter ⚠
p.Thr1603Ser Single submitter ⚠
p.Thr182Ser Single submitter ⚠
p.Thr480Ile Single submitter ⚠
p.Thr536Met Single submitter ⚠
p.Thr767Met Single submitter ⚠
p.Thr900Ile Single submitter ⚠
p.Thr990Arg Single submitter ⚠
p.Trp1024Arg Single submitter ⚠
p.Trp235Cys Single submitter ⚠
p.Trp350Gly Single submitter ⚠
p.Tyr1185Cys Single submitter ⚠
p.Tyr1303His Single submitter ⚠
p.Tyr1479Cys Single submitter ⚠
p.Tyr211His Single submitter ⚠
p.Tyr26Asp Single submitter ⚠
p.Tyr611Asp Single submitter ⚠
p.Tyr709Cys Single submitter ⚠
p.Tyr830Cys Single submitter ⚠
p.Val1091Gly Single submitter ⚠
p.Val1147Ala Single submitter ⚠
p.Val1153Leu Single submitter ⚠
p.Val1224Leu Single submitter ⚠
p.Val1353Ala Single submitter ⚠
p.Val1437Ile Single submitter ⚠
p.Val1468Met Single submitter ⚠
p.Val1678Leu Single submitter ⚠
p.Val441Met Single submitter ⚠
p.Val48Leu Single submitter ⚠
p.Val764Ala Single submitter ⚠
p.Val764Ile Single submitter ⚠
p.Val790Gly Single submitter
p.Val790Met Single submitter ⚠
p.Arg545Trp No assertion criteria prostate cancer ⚠