PARP14 — 198 ClinVar variants

All ClinVar germline PARP14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →

6 Benign · 24 Likely benign · 168 Uncertain significance

Full PARP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 163

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 138

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

Predictors split 25

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

All PARP14 variants

Benign 6

p.Ala1513Val Multiple submitters
p.Ala864= Multiple submitters
p.Asp488Asn Multiple submitters
p.Gln1413Pro Multiple submitters
p.Pro695Thr No assertion criteria Abnormality of neuronal migration
p.Ser485Arg No assertion criteria Abnormality of neuronal migration

Likely benign 24

p.Ala788Ser Single submitter
p.Arg1574Gln Single submitter
p.Arg350His Single submitter
p.Arg759Trp Single submitter
p.Arg795Gln Single submitter
p.Arg813Gln Single submitter
p.Arg914Gln Single submitter
p.Cys1463Tyr Single submitter
p.Glu1004Lys Single submitter
p.Glu1060Lys Single submitter
p.Glu723Lys Single submitter
p.Gly990Ser Single submitter
p.His610Asn Single submitter
p.Ile1287Val Single submitter
p.Ile497Val Single submitter
p.Ile542Val Single submitter
p.Lys210Arg Single submitter
p.Met409Val Single submitter
p.Phe100Ser Single submitter
p.Phe1617Leu Single submitter
p.Pro988Leu Single submitter
p.Trp694Leu Single submitter
p.Val449Ile Single submitter
p.Val665Ile Single submitter

Uncertain significance 168

p.Pro1200Leu Multiple submitters ⚠
p.Ala1187Ser Single submitter ⚠
p.Ala1202Ser Single submitter ⚠
p.Ala1350Asp Single submitter ⚠
p.Ala385Ser Single submitter ⚠
p.Ala561Thr Single submitter ⚠
p.Ala584Thr Single submitter ⚠
p.Ala588Glu Single submitter ⚠
p.Ala758Val Single submitter ⚠
p.Ala799Asp Single submitter ⚠
p.Ala834Asp Single submitter ⚠
p.Ala835Thr Single submitter ⚠
p.Arg1087Cys Single submitter ⚠
p.Arg1281Cys Single submitter ⚠
p.Arg1519Gln Single submitter ⚠
p.Arg1597His Single submitter ⚠
p.Arg1650Lys Single submitter
p.Arg53Gly Single submitter ⚠
p.Arg64Trp Single submitter ⚠
p.Arg813Trp Single submitter ⚠
p.Arg884His Single submitter ⚠
p.Asn1142Asp Single submitter ⚠
p.Asn1191Asp Single submitter ⚠
p.Asn1253Ser Single submitter ⚠
p.Asn1416Asp Single submitter ⚠
p.Asn1540Ser Single submitter ⚠
p.Asn1542Ser Single submitter ⚠
p.Asn1553Asp Single submitter
p.Asn1579Ser Single submitter ⚠
p.Asn1579Thr Single submitter ⚠
p.Asn1693Ser Single submitter ⚠
p.Asn24Ile Single submitter ⚠
p.Asn374Ser Single submitter ⚠
p.Asn944Tyr Single submitter ⚠
p.Asp1029Asn Single submitter ⚠
p.Asp1085Asn Single submitter ⚠
p.Asp1204Val Single submitter ⚠
p.Asp1235Glu Single submitter ⚠
p.Asp125Val Single submitter ⚠
p.Asp1284Val Single submitter ⚠
p.Asp18Asn Single submitter ⚠
p.Asp346Asn Single submitter ⚠
p.Asp346Glu Single submitter ⚠
p.Asp416Glu Single submitter ⚠
p.Asp416Tyr Single submitter ⚠
p.Asp420Asn Single submitter ⚠
p.Asp97Asn Single submitter ⚠
p.Cys1295Phe Single submitter ⚠
p.Cys1530Ser Single submitter ⚠
p.Cys509Arg Single submitter ⚠
p.Cys933Trp Single submitter ⚠
p.Gln547Arg Single submitter ⚠
p.Gln548Arg Single submitter ⚠
p.Gln703Arg Single submitter ⚠
p.Gln752Glu Single submitter ⚠
p.Gln752His Single submitter ⚠
p.Gln790Arg Single submitter ⚠
p.Gln851His Single submitter ⚠
p.Gln902Lys Single submitter ⚠
p.Gln946Glu Single submitter ⚠
p.Glu101Asp Single submitter ⚠
p.Glu1109Asp Single submitter ⚠
p.Glu142Gly Single submitter ⚠
p.Glu1621Asp Single submitter ⚠
p.Glu723Ala Single submitter ⚠
p.Glu825Lys Single submitter ⚠
p.Gly1687Ser Single submitter ⚠
p.Gly16Asp Single submitter ⚠
p.Gly255Val Single submitter
p.Gly572Asp Single submitter ⚠
p.Gly719Val Single submitter ⚠
p.Gly784Ala Single submitter ⚠
p.Gly79Arg Single submitter ⚠
p.Gly81Arg Single submitter ⚠
p.Gly887Arg Single submitter ⚠
p.Gly927Asp Single submitter ⚠
p.His1490Arg Single submitter ⚠
p.His875Asn Single submitter ⚠
p.His875Asp Single submitter ⚠
p.Ile1112Thr Single submitter ⚠
p.Ile1118Ser Single submitter ⚠
p.Ile1227Val Single submitter ⚠
p.Ile1464Thr Single submitter
p.Ile1511Thr Single submitter ⚠
p.Ile1605Val Single submitter ⚠
p.Ile272Val Single submitter ⚠
p.Ile473Phe Single submitter ⚠
p.Ile730Val Single submitter ⚠
p.Ile773Thr Single submitter ⚠
p.Ile937Val Single submitter ⚠
p.Leu130Phe Single submitter ⚠
p.Leu1520Met Single submitter ⚠
p.Leu1598Phe Single submitter ⚠
p.Leu165Val Single submitter ⚠
p.Leu295Phe Single submitter ⚠
p.Leu318Val Single submitter ⚠
p.Leu558His Single submitter ⚠
p.Leu565Phe Single submitter ⚠
p.Leu768Phe Single submitter ⚠
p.Leu775Ile Single submitter ⚠
p.Leu959Val Single submitter ⚠
p.Lys110Gln Single submitter ⚠
p.Lys1296Arg Single submitter ⚠
p.Lys332Glu Single submitter ⚠
p.Lys461Glu Single submitter ⚠
p.Lys590Glu Single submitter ⚠
p.Lys670Arg Single submitter ⚠
p.Lys699Asn Single submitter ⚠
p.Lys782Arg Single submitter ⚠
p.Lys84Asn Single submitter ⚠
p.Met1073Ile Single submitter ⚠
p.Met1675Ile Single submitter ⚠
p.Met284Ile Single submitter ⚠
p.Met432Val Single submitter ⚠
p.Met592Val Single submitter ⚠
p.Phe247Cys Single submitter ⚠
p.Phe978Leu Single submitter ⚠
p.Pro1056Ser Single submitter ⚠
p.Pro1095Leu Single submitter ⚠
p.Pro1200Ala Single submitter ⚠
p.Pro129Arg Single submitter ⚠
p.Pro1412Ser Single submitter ⚠
p.Pro60Leu Single submitter ⚠
p.Pro861Leu Single submitter ⚠
p.Pro8Leu Single submitter ⚠
p.Pro983Thr Single submitter ⚠
p.Pro993Ser Single submitter ⚠
p.Ser1007Asn Single submitter ⚠
p.Ser1042Gly Single submitter ⚠
p.Ser1156Gly Single submitter ⚠
p.Ser1226Tyr Single submitter ⚠
p.Ser1324Ala Single submitter ⚠
p.Ser268Arg Single submitter ⚠
p.Ser269Leu Single submitter ⚠
p.Ser361Arg Single submitter ⚠
p.Ser37Leu Single submitter ⚠
p.Ser439Pro Single submitter ⚠
p.Ser794Cys Single submitter ⚠
p.Ser794Phe Single submitter ⚠
p.Thr1119Ala Single submitter ⚠
p.Thr1586Ala Single submitter ⚠
p.Thr1586Lys Single submitter ⚠
p.Thr1599Lys Single submitter ⚠
p.Thr1631Ala Single submitter ⚠
p.Thr1713Ser Single submitter ⚠
p.Thr1726Ser Single submitter ⚠
p.Thr356Ala Single submitter ⚠
p.Thr356Met Single submitter ⚠
p.Thr456Ala Single submitter ⚠
p.Thr492Met Single submitter ⚠
p.Thr981Ala Single submitter ⚠
p.Tyr1220Cys Single submitter ⚠
p.Val1031Ala Single submitter ⚠
p.Val11Ala Single submitter ⚠
p.Val1270Ile Single submitter ⚠
p.Val1368Leu Single submitter ⚠
p.Val1504Met Single submitter
p.Val1689Met Single submitter ⚠
p.Val297Met Single submitter ⚠
p.Val373Gly Single submitter ⚠
p.Val447Ile Single submitter ⚠
p.Val528Met Single submitter ⚠
p.Val700Leu Single submitter ⚠
p.Val802Ile Single submitter ⚠
p.Val853Ala Single submitter ⚠
p.Val87Ile Single submitter ⚠
p.Val934Met Single submitter ⚠
p.Val938Phe Single submitter ⚠