PARP4 — 248 ClinVar variants

All ClinVar germline PARP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 211 flagged for review →

2 Conflicting · 11 Benign · 15 Likely benign · 220 Uncertain significance

Full PARP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 211

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 2

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

Predictors lean, ClinVar uncertain 180

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 180

Predictors split 29

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

All PARP4 variants

Conflicting classifications of pathogenicity 2

p.Arg1220Lys Single submitter ⚠
p.Arg967Gln Single submitter ⚠

Benign 11

p.Arg462Cys Multiple submitters
p.Glu1214= Multiple submitters
p.His901= Multiple submitters
p.Lys1249= Multiple submitters
p.Lys991Arg Multiple submitters
p.Ser1186= Multiple submitters
p.Val1065Ala Multiple submitters
c.3285+7_3285+9del Single submitter
c.3286-12dup Single submitter
c.4980-8dup Single submitter
p.Leu118Val Single submitter

Likely benign 15

p.Val69Ile Multiple submitters
p.Ala1469Gly Single submitter
p.Arg1278Cys Single submitter
p.Arg434Lys Single submitter
p.Arg462His Single submitter
p.Gln244Lys Single submitter
p.Glu1183= Single submitter
p.Glu1680= Single submitter
p.Leu1206= Single submitter
p.Leu507= Single submitter
p.Lys724Thr Single submitter
p.Val169Gly Single submitter ⚠
p.Val469= Single submitter
p.Val469Ile Single submitter
p.Val859= Single submitter

Uncertain significance 220

p.Arg1238Gln Multiple submitters ⚠
p.Ala1029Glu Single submitter ⚠
p.Ala1071Val Single submitter ⚠
p.Ala1131Thr Single submitter ⚠
p.Ala123Thr Single submitter ⚠
p.Ala1333Thr Single submitter ⚠
p.Ala1333Val Single submitter ⚠
p.Ala1353Pro Single submitter ⚠
p.Ala1381Val Single submitter ⚠
p.Ala1517Val Single submitter ⚠
p.Ala1628Ser Single submitter ⚠
p.Ala211Val Single submitter ⚠
p.Arg1010Cys Single submitter ⚠
p.Arg1010Ser Single submitter ⚠
p.Arg1130Gln Single submitter ⚠
p.Arg1181Lys Single submitter ⚠
p.Arg1241Lys Single submitter ⚠
p.Arg1278His Single submitter ⚠
p.Arg1332Gly Single submitter ⚠
p.Arg1332His Single submitter ⚠
p.Arg1345His Single submitter ⚠
p.Arg1492Gln Single submitter ⚠
p.Arg1689Trp Single submitter
p.Arg586Lys Single submitter ⚠
p.Arg809Cys Single submitter ⚠
p.Arg82Trp Single submitter ⚠
p.Arg85Ser Single submitter ⚠
p.Arg970Trp Single submitter ⚠
p.Arg994Cys Single submitter ⚠
p.Arg994His Single submitter ⚠
p.Asn217His Single submitter ⚠
p.Asn363Ser Single submitter ⚠
p.Asn368Lys Single submitter ⚠
p.Asn421Ser Single submitter ⚠
p.Asn52Asp Single submitter ⚠
p.Asn554Asp Single submitter ⚠
p.Asn554Ser Single submitter ⚠
p.Asn619Tyr Single submitter ⚠
p.Asn647Ser Single submitter ⚠
p.Asn934His Single submitter ⚠
p.Asp1064Tyr Single submitter ⚠
p.Asp1375Val Single submitter ⚠
p.Asp1526Gly Single submitter ⚠
p.Asp1546Asn Single submitter ⚠
p.Asp1625Glu Single submitter ⚠
p.Asp181Glu Single submitter ⚠
p.Asp181Gly Single submitter ⚠
p.Asp193Asn Single submitter ⚠
p.Asp194Ala Single submitter ⚠
p.Asp293Asn Single submitter ⚠
p.Asp504Gly Single submitter ⚠
p.Asp865Asn Single submitter ⚠
p.Cys1099Arg Single submitter ⚠
p.Cys380Tyr Single submitter ⚠
p.Cys668Tyr Single submitter ⚠
p.Cys9Tyr Single submitter ⚠
p.Gln1117His Single submitter ⚠
p.Gln1153Glu Single submitter ⚠
p.Gln1212His Single submitter ⚠
p.Gln1533Arg Single submitter ⚠
p.Gln535Arg Single submitter ⚠
p.Gln555His Single submitter ⚠
p.Gln599Arg Single submitter ⚠
p.Gln599His Single submitter ⚠
p.Gln708Arg Single submitter ⚠
p.Gln894Glu Single submitter ⚠
p.Gln988His Single submitter ⚠
p.Glu1115Lys Single submitter ⚠
p.Glu1149Gly Single submitter ⚠
p.Glu1196Lys Single submitter ⚠
p.Glu1259Asp Single submitter ⚠
p.Glu163Lys Single submitter ⚠
p.Glu315Lys Single submitter ⚠
p.Glu361Asp Single submitter ⚠
p.Glu398Lys Single submitter ⚠
p.Glu583Gln Single submitter ⚠
p.Glu596Lys Single submitter ⚠
p.Glu688Lys Single submitter ⚠
p.Glu695Ala Single submitter ⚠
p.Glu796Ala Single submitter ⚠
p.Glu854Lys Single submitter ⚠
p.Glu888Lys Single submitter ⚠
p.Gly1003Ser Single submitter ⚠
p.Gly1022Arg Single submitter ⚠
p.Gly1367Asp Single submitter ⚠
p.Gly1593Val Single submitter ⚠
p.Gly470Arg Single submitter ⚠
p.Gly741Ser Single submitter ⚠
p.Gly778Arg Single submitter ⚠
p.Gly778Glu Single submitter ⚠
p.Gly834Ser Single submitter ⚠
p.Gly918Ser Single submitter ⚠
p.His1438Arg Single submitter ⚠
p.His330Gln Single submitter ⚠
p.His438Arg Single submitter ⚠
p.His514Gln Single submitter ⚠
p.His531Arg Single submitter ⚠
p.His678Arg Single submitter ⚠
p.His803Arg Single submitter ⚠
p.Ile1004Met Single submitter ⚠
p.Ile1549Val Single submitter ⚠
p.Ile1561Val Single submitter ⚠
p.Ile1686Val Single submitter ⚠
p.Ile219Thr Single submitter ⚠
p.Ile300Val Single submitter ⚠
p.Ile353Met Single submitter ⚠
p.Ile633Lys Single submitter
p.Ile633Met Single submitter ⚠
p.Ile640Met Single submitter ⚠
p.Ile683Met Single submitter ⚠
p.Ile77Met Single submitter ⚠
p.Ile789Val Single submitter ⚠
p.Ile833Val Single submitter ⚠
p.Leu1158Pro Single submitter ⚠
p.Leu1301Pro Single submitter ⚠
p.Leu1432Met Single submitter ⚠
p.Leu1577His Single submitter ⚠
p.Leu302Phe Single submitter ⚠
p.Leu427Phe Single submitter ⚠
p.Leu437Val Single submitter ⚠
p.Leu453Phe Single submitter
p.Leu499His Single submitter ⚠
p.Leu737Val Single submitter ⚠
p.Leu957Val Single submitter ⚠
p.Leu973Ile Single submitter ⚠
p.Lys509Arg Single submitter ⚠
p.Lys604Glu Single submitter ⚠
p.Lys629Asn Single submitter ⚠
p.Lys664Glu Single submitter ⚠
p.Lys730Gln Single submitter
p.Met1209Val Single submitter ⚠
p.Met1250Thr Single submitter ⚠
p.Met1250Val Single submitter ⚠
p.Met1630Val Single submitter ⚠
p.Met196Val Single submitter ⚠
p.Met269Thr Single submitter ⚠
p.Met281Ile Single submitter ⚠
p.Met566Val Single submitter ⚠
p.Met787Val Single submitter ⚠
p.Met887Arg Single submitter ⚠
p.Met887Thr Single submitter ⚠
p.Met887Val Single submitter
p.Met936Ile Single submitter ⚠
p.Phe1000Cys Single submitter ⚠
p.Phe1272Leu Single submitter ⚠
p.Phe1350Leu Single submitter ⚠
p.Phe415Leu Single submitter ⚠
p.Phe518Leu Single submitter ⚠
p.Phe548Tyr Single submitter ⚠
p.Phe589Leu Single submitter ⚠
p.Pro1244Ser Single submitter ⚠
p.Pro1295Leu Single submitter ⚠
p.Pro1295Ser Single submitter ⚠
p.Pro1300Thr Single submitter ⚠
p.Pro1321Leu Single submitter ⚠
p.Pro1329Leu Single submitter ⚠
p.Pro1391Leu Single submitter ⚠
p.Pro1445Ser Single submitter ⚠
p.Pro146His Single submitter ⚠
p.Pro1514Arg Single submitter ⚠
p.Pro1514Thr Single submitter ⚠
p.Pro285Leu Single submitter ⚠
p.Pro329Thr Single submitter ⚠
p.Pro335Ala Single submitter ⚠
p.Pro408Thr Single submitter ⚠
p.Pro525Leu Single submitter ⚠
p.Pro576Ser Single submitter ⚠
p.Pro622Leu Single submitter ⚠
p.Pro711Leu Single submitter ⚠
p.Pro722Thr Single submitter
p.Pro928Ser Single submitter ⚠
p.Pro94Leu Single submitter ⚠
p.Pro965Arg Single submitter ⚠
p.Ser1223Ala Single submitter ⚠
p.Ser1246Cys Single submitter ⚠
p.Ser1504Leu Single submitter ⚠
p.Ser1507Asn Single submitter ⚠
p.Ser1511Asn Single submitter ⚠
p.Ser1525Asn Single submitter ⚠
p.Ser1685Phe Single submitter
p.Ser1698Phe Single submitter ⚠
p.Ser1713Pro Single submitter ⚠
p.Ser212Gly Single submitter ⚠
p.Ser371Tyr Single submitter ⚠
p.Ser407Asn Single submitter ⚠
p.Ser440Phe Single submitter ⚠
p.Ser529Gly Single submitter ⚠
p.Ser63Tyr Single submitter ⚠
p.Ser884Ala Single submitter
p.Thr1120Ala Single submitter ⚠
p.Thr1298Pro Single submitter ⚠
p.Thr1312Ala Single submitter ⚠
p.Thr133Ala Single submitter ⚠
p.Thr1385Ile Single submitter ⚠
p.Thr1428Ile Single submitter ⚠
p.Thr1629Ser Single submitter ⚠
p.Thr423Ile Single submitter ⚠
p.Thr541Ala Single submitter ⚠
p.Thr751Ile Single submitter ⚠
p.Thr810Ile Single submitter ⚠
p.Thr986Pro Single submitter
p.Trp78Arg Single submitter
p.Tyr1087Cys Single submitter
p.Tyr1454Asn Single submitter ⚠
p.Tyr218His Single submitter ⚠
p.Tyr645Cys Single submitter
p.Tyr839Cys Single submitter ⚠
p.Val1056Ile Single submitter ⚠
p.Val1111Leu Single submitter ⚠
p.Val1505Leu Single submitter ⚠
p.Val15Leu Single submitter ⚠
p.Val417Ile Single submitter ⚠
p.Val636Leu Single submitter ⚠
p.Val639Ala Single submitter ⚠
p.Val651Met Single submitter ⚠
p.Val69Leu Single submitter ⚠
p.Val743Ala Single submitter ⚠
p.Val794Met Single submitter ⚠
p.Val815Leu Single submitter ⚠
p.Val975Gly Single submitter ⚠