PARP6 — 49 ClinVar variants
All ClinVar germline PARP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
49 Uncertain significance
Full PARP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PARP6 p.Ala172Gly Uncertain significance Single submitter
- PARP6 p.Ala233Glu Uncertain significance Single submitter
- PARP6 p.Arg207His Uncertain significance Single submitter
- PARP6 p.Arg248Gln Uncertain significance Single submitter
- PARP6 p.Arg248Trp Uncertain significance Single submitter
- PARP6 p.Arg549Gln Uncertain significance Single submitter
- PARP6 p.Arg559Gln Uncertain significance Single submitter
- PARP6 p.Arg621Cys Uncertain significance Single submitter
- PARP6 p.Asp191Gly Uncertain significance Single submitter
- PARP6 p.Asp79His Uncertain significance Single submitter
- PARP6 p.Cys311Tyr Uncertain significance Single submitter
- PARP6 p.Gln154Glu Uncertain significance Single submitter
- PARP6 p.Ile113Val Uncertain significance Single submitter
- PARP6 p.Ile176Val Uncertain significance Single submitter
-
PARP6 p.Ile392Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- PARP6 p.Ile58Val Uncertain significance Single submitter
- PARP6 p.Ile94Val Uncertain significance Single submitter
- PARP6 p.Leu252Ser Uncertain significance Single submitter
- PARP6 p.Lys376Arg Uncertain significance Single submitter
- PARP6 p.Met136Val Uncertain significance Single submitter
- PARP6 p.Pro246Ala Uncertain significance Single submitter
- PARP6 p.Pro251Ala Uncertain significance Single submitter
- PARP6 p.Ser13Leu Uncertain significance Single submitter
- PARP6 p.Ser19Leu Uncertain significance Single submitter
- PARP6 p.Ser230Asn Uncertain significance Single submitter
- PARP6 p.Ser399Ala Uncertain significance Single submitter
- PARP6 p.Thr281Ala Uncertain significance Single submitter
- PARP6 p.Thr544Ser Uncertain significance Single submitter
- PARP6 p.Thr625Ser Uncertain significance Single submitter
- PARP6 p.Tyr379Asp Uncertain significance Single submitter
- PARP6 p.Val115Ile Uncertain significance Single submitter
- PARP6 p.Val205Ile Uncertain significance Single submitter
- PARP6 p.Val241Met Uncertain significance Single submitter
- PARP6 p.Val253Ala Uncertain significance Single submitter
- PARP6 p.Val269Ile Uncertain significance Single submitter
- PARP6 p.Val26Ile Uncertain significance Single submitter
- PARP6 p.Val56Leu Uncertain significance Single submitter
- PARP6 p.Val82Ile Uncertain significance Single submitter
- PARP6 p.Cys563Arg Uncertain significance No assertion criteria
Predictors split 9
The independent predictors disagree with each other — read with care.
- PARP6 p.Arg308His Uncertain significance Single submitter
- PARP6 p.Arg381Gln Uncertain significance Single submitter
- PARP6 p.Arg90Gln Uncertain significance Single submitter
- PARP6 p.Ile50Leu Uncertain significance Single submitter
- PARP6 p.Ser52Ile Uncertain significance Single submitter
- PARP6 p.Thr63Ile Uncertain significance Single submitter
- PARP6 p.Val47Ala Uncertain significance Single submitter
- PARP6 p.Val47Met Uncertain significance Single submitter
- PARP6 p.Val67Met Uncertain significance Single submitter
All PARP6 variants
Uncertain significance 49
- c.1491+1G>A Single submitter PARP6-related disorder
- p.Ala172Gly Single submitter ⚠
- p.Ala233Glu Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg308His Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg549Gln Single submitter ⚠
- p.Arg559Gln Single submitter ⚠
- p.Arg621Cys Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Asp191Gly Single submitter ⚠
- p.Asp79His Single submitter ⚠
- p.Cys311Tyr Single submitter ⚠
- p.Gln154Glu Single submitter ⚠
- p.Ile113Val Single submitter ⚠
- p.Ile176Val Single submitter ⚠
- p.Ile392Val Single submitter neurodevelopmental disorder ⚠
- p.Ile50Leu Single submitter ⚠
- p.Ile58Val Single submitter ⚠
- p.Ile94Val Single submitter ⚠
- p.Leu252Ser Single submitter ⚠
- p.Lys376Arg Single submitter ⚠
- p.Met136Val Single submitter ⚠
- p.Pro246Ala Single submitter ⚠
- p.Pro251Ala Single submitter ⚠
- p.Ser13Leu Single submitter ⚠
- p.Ser19Leu Single submitter ⚠
- p.Ser230Asn Single submitter ⚠
- p.Ser399Ala Single submitter ⚠
- p.Ser52Ile Single submitter ⚠
- p.Thr281Ala Single submitter ⚠
- p.Thr544Ser Single submitter ⚠
- p.Thr625Ser Single submitter ⚠
- p.Thr63Ile Single submitter ⚠
- p.Tyr379Asp Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val205Ile Single submitter ⚠
- p.Val241Met Single submitter ⚠
- p.Val253Ala Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val26Ile Single submitter ⚠
- p.Val47Ala Single submitter ⚠
- p.Val47Met Single submitter ⚠
- p.Val56Leu Single submitter ⚠
- p.Val67Met Single submitter ⚠
- p.Val82Ile Single submitter ⚠
- p.Cys563Arg No assertion criteria ⚠