PDE9A — 100 ClinVar variants

All ClinVar germline PDE9A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

1 Benign · 11 Likely benign · 88 Uncertain significance

Full PDE9A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 71

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

Predictors split 11

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

All PDE9A variants

Benign 1

p.Met560Arg Multiple submitters

Likely benign 11

p.Ala394Thr Multiple submitters
p.Ala69= Single submitter
p.Arg20= Single submitter
p.Asp57= Single submitter
p.Ile63= Single submitter
p.Phe300Leu Single submitter
p.Pro75= Single submitter
p.Thr340Met Single submitter
p.Thr362= Single submitter
p.Thr49= Single submitter
p.Thr56= Single submitter

Uncertain significance 88

p.Ala348Val Single submitter ⚠
p.Ala349Thr Single submitter ⚠
p.Ala372Val Single submitter ⚠
p.Ala387Pro Single submitter ⚠
p.Ala387Thr Single submitter ⚠
p.Ala559Thr Single submitter ⚠
p.Ala59Thr Single submitter ⚠
p.Ala69Thr Single submitter ⚠
p.Arg104Thr Single submitter ⚠
p.Arg110Trp Single submitter ⚠
p.Arg118Trp Single submitter ⚠
p.Arg187His Single submitter ⚠
p.Arg20His Single submitter ⚠
p.Arg237Gln Single submitter ⚠
p.Arg238His Single submitter ⚠
p.Arg257Gln Single submitter ⚠
p.Arg315Trp Single submitter ⚠
p.Arg368His Single submitter ⚠
p.Arg468His Single submitter ⚠
p.Arg490Cys Single submitter ⚠
p.Arg490His Single submitter
p.Arg549His Single submitter ⚠
p.Arg555Trp Single submitter ⚠
p.Arg583Ser Single submitter ⚠
p.Arg98His Single submitter ⚠
p.Asn171Asp Single submitter ⚠
p.Asn269Ser Single submitter ⚠
p.Asn366Asp Single submitter ⚠
p.Asp204Gly Single submitter ⚠
p.Asp239Asn Single submitter ⚠
p.Asp281Asn Single submitter
p.Asp281His Single submitter ⚠
p.Asp34His Single submitter ⚠
p.Asp57Asn Single submitter ⚠
p.Asp58Asn Single submitter ⚠
p.Asp64Asn Single submitter ⚠
p.Cys223Tyr Single submitter
p.Gln136Lys Single submitter ⚠
p.Gln339Arg Single submitter ⚠
p.Glu471Lys Single submitter ⚠
p.Glu526Ala Single submitter ⚠
p.Glu551Gln Single submitter ⚠
p.Glu552Asp Single submitter ⚠
p.Glu72Lys Single submitter ⚠
p.Gly121Val Single submitter ⚠
p.Gly283Arg Single submitter ⚠
p.Gly358Ser Single submitter ⚠
p.Ile21Val Single submitter ⚠
p.Ile378Met Single submitter
p.Ile417Asn Single submitter ⚠
p.Ile456Thr Single submitter ⚠
p.Ile514Thr Single submitter ⚠
p.Leu193Ile Single submitter ⚠
p.Leu193Pro Single submitter ⚠
p.Leu272Val Single submitter ⚠
p.Leu284Gln Single submitter ⚠
p.Leu419Ser Single submitter ⚠
p.Leu480Phe Single submitter ⚠
p.Leu540Pro Single submitter ⚠
p.Lys28Thr Single submitter ⚠
p.Lys438Ile Single submitter ⚠
p.Lys509Thr Single submitter ⚠
p.Met36Arg Single submitter ⚠
p.Met425Thr Single submitter ⚠
p.Met455Val Single submitter
p.Met470Val Single submitter ⚠
p.Met60Val Single submitter ⚠
p.Pro135Leu Single submitter ⚠
p.Pro236Ser Single submitter ⚠
p.Pro80Ala Single submitter ⚠
p.Ser569Asn Single submitter ⚠
p.Ser588Arg Single submitter ⚠
p.Thr242Ala Single submitter ⚠
p.Thr260Ile Single submitter ⚠
p.Thr451Ile Single submitter ⚠
p.Thr49Ser Single submitter ⚠
p.Thr571Met Single submitter ⚠
p.Thr95Pro Single submitter ⚠
p.Trp329Cys Single submitter ⚠
p.Trp544Gly Single submitter ⚠
p.Val156Met Single submitter ⚠
p.Val160Ile Single submitter ⚠
p.Val263Ile Single submitter ⚠
p.Val302Ile Single submitter ⚠
p.Val320Met Single submitter ⚠
p.Val472Ile Single submitter ⚠
p.Val585Met Single submitter ⚠
c.1085+1G>A No assertion criteria