DDX60 — 201 ClinVar variants

All ClinVar germline DDX60 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

3 Benign · 24 Likely benign · 174 Uncertain significance

Full DDX60 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 155

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 155

Predictors split 16

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

All DDX60 variants

Benign 3

p.Asn1617Ser Multiple submitters
p.Ile117Val Multiple submitters
c.4270-9G>C Single submitter

Likely benign 24

p.Arg120Gln Single submitter
p.Arg1602Gln Single submitter
p.Arg277= Single submitter
p.Arg277His Single submitter
p.Arg692Gln Single submitter
p.Asn1354Lys Single submitter
p.Asp1516Asn Single submitter
p.Glu12Lys Single submitter
p.Glu283Lys Single submitter
p.Ile1084Val Single submitter
p.Ile1186Leu Single submitter
p.Ile333Val Single submitter
p.Ile559Val Single submitter
p.Ile993Val Single submitter
p.Lys1123Glu Single submitter
p.Lys441Asn Single submitter
p.Met1660Ile Single submitter
p.Pro764= Single submitter
p.Ser102Pro Single submitter
p.Thr1194Asn Single submitter
p.Thr461Met Single submitter
p.Val1089Ile Single submitter
p.Val1197Met Single submitter
p.Val731Ile Single submitter

Uncertain significance 174

p.Ala1142Thr Single submitter ⚠
p.Ala1231Val Single submitter ⚠
p.Ala1267Gly Single submitter ⚠
p.Ala1673Ser Single submitter ⚠
p.Arg1122Thr Single submitter ⚠
p.Arg1158Ser Single submitter ⚠
p.Arg1195Gly Single submitter ⚠
p.Arg120Pro Single submitter ⚠
p.Arg1371Gln Single submitter ⚠
p.Arg1494Ser Single submitter ⚠
p.Arg1541Gln Single submitter ⚠
p.Arg195Thr Single submitter ⚠
p.Arg261His Single submitter ⚠
p.Arg524Thr Single submitter ⚠
p.Arg527Cys Single submitter ⚠
p.Arg540Gly Single submitter ⚠
p.Arg692Trp Single submitter ⚠
p.Arg70His Single submitter ⚠
p.Arg70Leu Single submitter ⚠
p.Arg876Cys Single submitter ⚠
p.Arg876His Single submitter ⚠
p.Arg876Leu Single submitter
p.Asn1060Ser Single submitter ⚠
p.Asn114Lys Single submitter ⚠
p.Asn1171Asp Single submitter ⚠
p.Asn1217Ser Single submitter ⚠
p.Asn1431Ser Single submitter ⚠
p.Asn1458Ser Single submitter ⚠
p.Asn1710Ser Single submitter ⚠
p.Asn171His Single submitter ⚠
p.Asn31Ser Single submitter ⚠
p.Asn4Ser Single submitter ⚠
p.Asp1001Glu Single submitter ⚠
p.Asp1068Val Single submitter
p.Asp1104Gly Single submitter ⚠
p.Asp1163Asn Single submitter ⚠
p.Asp1523Val Single submitter ⚠
p.Asp1526Glu Single submitter ⚠
p.Asp152Asn Single submitter ⚠
p.Asp1692Asn Single submitter ⚠
p.Asp705Val Single submitter ⚠
p.Asp964Gly Single submitter ⚠
p.Cys1567Arg Single submitter ⚠
p.Cys1567Tyr Single submitter ⚠
p.Cys299Tyr Single submitter ⚠
p.Cys329Ser Single submitter ⚠
p.Cys634Tyr Single submitter ⚠
p.Gln1199Pro Single submitter ⚠
p.Gln1274His Single submitter ⚠
p.Gln1428Lys Single submitter ⚠
p.Gln197Lys Single submitter ⚠
p.Gln426Arg Single submitter ⚠
p.Gln940His Single submitter ⚠
p.Glu1144Gly Single submitter ⚠
p.Glu130Asp Single submitter ⚠
p.Glu1446Asp Single submitter ⚠
p.Glu391Lys Single submitter ⚠
p.Glu610Ala Single submitter ⚠
p.Glu840Asp Single submitter ⚠
p.Gly1379Arg Single submitter ⚠
p.Gly1615Ser Single submitter ⚠
p.Gly1633Arg Single submitter ⚠
p.Gly177Arg Single submitter ⚠
p.Gly732Asp Single submitter ⚠
p.Gly895Asp Single submitter ⚠
p.His1013Asp Single submitter ⚠
p.His1167Gln Single submitter ⚠
p.His1443Arg Single submitter ⚠
p.His164Arg Single submitter ⚠
p.His397Asp Single submitter ⚠
p.His501Arg Single submitter ⚠
p.Ile1180Val Single submitter ⚠
p.Ile1679Val Single submitter ⚠
p.Ile198Val Single submitter ⚠
p.Ile238Val Single submitter ⚠
p.Ile292Val Single submitter ⚠
p.Ile473Met Single submitter ⚠
p.Ile608Val Single submitter ⚠
p.Ile783Phe Single submitter ⚠
p.Leu1062Val Single submitter ⚠
p.Leu109Ile Single submitter ⚠
p.Leu1130Pro Single submitter ⚠
p.Leu1201Pro Single submitter ⚠
p.Leu1374Pro Single submitter ⚠
p.Leu1398Gln Single submitter ⚠
p.Leu1546Pro Single submitter
p.Leu1601Pro Single submitter ⚠
p.Leu1668Val Single submitter ⚠
p.Leu215Phe Single submitter ⚠
p.Leu379Val Single submitter ⚠
p.Leu694Ile Single submitter ⚠
p.Leu6Val Single submitter ⚠
p.Leu966Trp Single submitter ⚠
p.Lys1042Arg Single submitter ⚠
p.Lys1182Gln Single submitter ⚠
p.Lys1230Arg Single submitter ⚠
p.Lys1249Thr Single submitter ⚠
p.Lys1401Arg Single submitter ⚠
p.Lys1470Arg Single submitter ⚠
p.Lys1470Glu Single submitter ⚠
p.Lys1628Glu Single submitter ⚠
p.Lys244Gln Single submitter ⚠
p.Lys506Ile Single submitter ⚠
p.Lys534Asn Single submitter ⚠
p.Lys560Glu Single submitter ⚠
p.Lys563Gln Single submitter ⚠
p.Lys563Glu Single submitter ⚠
p.Lys963Thr Single submitter ⚠
p.Met1037Thr Single submitter ⚠
p.Met1300Val Single submitter ⚠
p.Met1433Arg Single submitter ⚠
p.Met1433Val Single submitter ⚠
p.Met1577Leu Single submitter ⚠
p.Met1577Val Single submitter ⚠
p.Met641Ile Single submitter ⚠
p.Met673Ile Single submitter ⚠
p.Phe263Ser Single submitter ⚠
p.Phe278Val Single submitter ⚠
p.Phe386Val Single submitter ⚠
p.Phe82Leu Single submitter ⚠
p.Pro1020Ser Single submitter ⚠
p.Pro1159Ser Single submitter ⚠
p.Pro1382Leu Single submitter ⚠
p.Pro1606Leu Single submitter ⚠
p.Pro1622Leu Single submitter ⚠
p.Pro228Leu Single submitter ⚠
p.Pro284Leu Single submitter ⚠
p.Pro427Ser Single submitter ⚠
p.Pro442Thr Single submitter ⚠
p.Pro58Ser Single submitter ⚠
p.Pro755Leu Single submitter ⚠
p.Pro755Ser Single submitter ⚠
p.Pro764Leu Single submitter ⚠
p.Pro913Ser Single submitter ⚠
p.Pro962Leu Single submitter ⚠
p.Ser1266Cys Single submitter ⚠
p.Ser1365Gly Single submitter ⚠
p.Ser1454Asn Single submitter ⚠
p.Ser1472Leu Single submitter ⚠
p.Ser1637Leu Single submitter ⚠
p.Ser267Leu Single submitter ⚠
p.Ser269Ala Single submitter ⚠
p.Ser509Asn Single submitter ⚠
p.Ser523Phe Single submitter ⚠
p.Ser550Phe Single submitter ⚠
p.Ser551Leu Single submitter ⚠
p.Ser570Thr Single submitter ⚠
p.Ser678Cys Single submitter ⚠
p.Ser933Leu Single submitter ⚠
p.Ser971Thr Single submitter ⚠
p.Thr1011Ala Single submitter ⚠
p.Thr105Ile Single submitter ⚠
p.Thr1675Ile Single submitter ⚠
p.Thr213Ala Single submitter ⚠
p.Thr556Pro Single submitter ⚠
p.Thr663Met Single submitter ⚠
p.Tyr1646His Single submitter ⚠
p.Tyr194Asn Single submitter ⚠
p.Tyr535Cys Single submitter ⚠
p.Tyr701His Single submitter ⚠
p.Val1146Ala Single submitter ⚠
p.Val1337Ile Single submitter ⚠
p.Val1389Met Single submitter ⚠
p.Val1623Met Single submitter ⚠
p.Val1694Ile Single submitter ⚠
p.Val1695Ala Single submitter ⚠
p.Val262Ile Single submitter ⚠
p.Val393Leu Single submitter ⚠
p.Val466Ile Single submitter ⚠
p.Val642Gly Single submitter ⚠
p.Val642Leu Single submitter ⚠
p.Val68Phe Single submitter ⚠
p.Val891Ala Single submitter ⚠
p.Gln638Arg No assertion criteria prostate cancer ⚠