PDE12 — 53 ClinVar variants
All ClinVar germline PDE12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
53 Uncertain significance
Full PDE12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDE12 p.Ala201Thr Uncertain significance Single submitter
- PDE12 p.Ala322Pro Uncertain significance Single submitter
- PDE12 p.Ala404Val Uncertain significance Single submitter
- PDE12 p.Ala424Thr Uncertain significance Single submitter
- PDE12 p.Arg128Gly Uncertain significance Single submitter
- PDE12 p.Asn551Asp Uncertain significance Single submitter
- PDE12 p.Asn81Ser Uncertain significance Single submitter
- PDE12 p.Gln168Arg Uncertain significance Single submitter
- PDE12 p.Gln332Arg Uncertain significance Single submitter
- PDE12 p.Glu338Val Uncertain significance Single submitter
- PDE12 p.Glu371Asp Uncertain significance Single submitter
- PDE12 p.Glu69Ala Uncertain significance Single submitter
- PDE12 p.Glu69Lys Uncertain significance Single submitter
- PDE12 p.Gly85Ser Uncertain significance Single submitter
- PDE12 p.His379Gln Uncertain significance Single submitter
- PDE12 p.His411Arg Uncertain significance Single submitter
- PDE12 p.His477Tyr Uncertain significance Single submitter
- PDE12 p.Ile478Val Uncertain significance Single submitter
- PDE12 p.Ile600Leu Uncertain significance Single submitter
- PDE12 p.Ile600Thr Uncertain significance Single submitter
- PDE12 p.Leu370Pro Uncertain significance Single submitter
- PDE12 p.Lys412Arg Uncertain significance Single submitter
- PDE12 p.Lys61Arg Uncertain significance Single submitter
- PDE12 p.Lys94Arg Uncertain significance Single submitter
- PDE12 p.Met471Ile Uncertain significance Single submitter
- PDE12 p.Met63Val Uncertain significance Single submitter
- PDE12 p.Pro577Thr Uncertain significance Single submitter
- PDE12 p.Ser433Thr Uncertain significance Single submitter
- PDE12 p.Ser433Tyr Uncertain significance Single submitter
- PDE12 p.Ser482Thr Uncertain significance Single submitter
- PDE12 p.Ser95Gly Uncertain significance Single submitter
- PDE12 p.Tyr172Cys Uncertain significance Single submitter
- PDE12 p.Val210Ile Uncertain significance Single submitter
- PDE12 p.Val362Gly Uncertain significance Single submitter
- PDE12 p.Val473Ile Uncertain significance Single submitter
- PDE12 p.Val593Asp Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- PDE12 p.Ala206Val Uncertain significance Single submitter
- PDE12 p.Ala79Thr Uncertain significance Single submitter
- PDE12 p.Arg196Cys Uncertain significance Single submitter
- PDE12 p.Arg196Leu Uncertain significance Single submitter
- PDE12 p.Asp135Asn Uncertain significance Single submitter
- PDE12 p.Glu311Asp Uncertain significance Single submitter
- PDE12 p.His397Arg Uncertain significance Single submitter
- PDE12 p.His460Tyr Uncertain significance Single submitter
- PDE12 p.Leu167Val Uncertain significance Single submitter
- PDE12 p.Leu393Phe Uncertain significance Single submitter
- PDE12 p.Lys609Glu Uncertain significance Single submitter
- PDE12 p.Pro161Ser Uncertain significance Single submitter
- PDE12 p.Pro208Ser Uncertain significance Single submitter
- PDE12 p.Ser68Arg Uncertain significance Single submitter
- PDE12 p.Thr278Asn Uncertain significance Single submitter
- PDE12 p.Tyr127Asp Uncertain significance Single submitter
- PDE12 p.Val437Leu Uncertain significance Single submitter
All PDE12 variants
Uncertain significance 53
- p.Ala201Thr Single submitter ⚠
- p.Ala206Val Single submitter ⚠
- p.Ala322Pro Single submitter ⚠
- p.Ala404Val Single submitter ⚠
- p.Ala424Thr Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Arg128Gly Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg196Leu Single submitter ⚠
- p.Asn551Asp Single submitter ⚠
- p.Asn81Ser Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Gln168Arg Single submitter ⚠
- p.Gln332Arg Single submitter ⚠
- p.Glu311Asp Single submitter ⚠
- p.Glu338Val Single submitter ⚠
- p.Glu371Asp Single submitter ⚠
- p.Glu69Ala Single submitter ⚠
- p.Glu69Lys Single submitter ⚠
- p.Gly85Ser Single submitter ⚠
- p.His379Gln Single submitter ⚠
- p.His397Arg Single submitter ⚠
- p.His411Arg Single submitter ⚠
- p.His460Tyr Single submitter ⚠
- p.His477Tyr Single submitter ⚠
- p.Ile478Val Single submitter ⚠
- p.Ile600Leu Single submitter ⚠
- p.Ile600Thr Single submitter ⚠
- p.Leu167Val Single submitter ⚠
- p.Leu370Pro Single submitter ⚠
- p.Leu393Phe Single submitter ⚠
- p.Lys412Arg Single submitter ⚠
- p.Lys609Glu Single submitter ⚠
- p.Lys61Arg Single submitter ⚠
- p.Lys94Arg Single submitter ⚠
- p.Met471Ile Single submitter ⚠
- p.Met63Val Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro208Ser Single submitter ⚠
- p.Pro577Thr Single submitter ⚠
- p.Ser433Thr Single submitter ⚠
- p.Ser433Tyr Single submitter ⚠
- p.Ser482Thr Single submitter ⚠
- p.Ser68Arg Single submitter ⚠
- p.Ser95Gly Single submitter ⚠
- p.Thr278Asn Single submitter ⚠
- p.Tyr127Asp Single submitter ⚠
- p.Tyr172Cys Single submitter ⚠
- p.Val210Ile Single submitter ⚠
- p.Val362Gly Single submitter ⚠
- p.Val437Leu Single submitter ⚠
- p.Val473Ile Single submitter ⚠
- p.Val593Asp Single submitter ⚠