PDE1B — 45 ClinVar variants
All ClinVar germline PDE1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Benign · 44 Uncertain significance
Full PDE1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDE1B p.Ala448Thr Uncertain significance Single submitter
- PDE1B p.Ala92Ser Uncertain significance Single submitter
- PDE1B p.Arg241His Uncertain significance Single submitter
- PDE1B p.Arg36Pro Uncertain significance Single submitter
- PDE1B p.Arg40His Uncertain significance Single submitter
- PDE1B p.Arg412Cys Uncertain significance Single submitter
- PDE1B p.Arg463His Uncertain significance Single submitter
- PDE1B p.Arg482His Uncertain significance Single submitter
- PDE1B p.Arg499Gln Uncertain significance Single submitter
- PDE1B p.Arg76Trp Uncertain significance Single submitter
- PDE1B p.Arg98Trp Uncertain significance Single submitter
- PDE1B p.Asn192Asp Uncertain significance Single submitter
- PDE1B p.Asp511His Uncertain significance Single submitter
- PDE1B p.Cys157Tyr Uncertain significance Single submitter
- PDE1B p.Gln445Glu Uncertain significance Single submitter
- PDE1B p.Glu329Gln Uncertain significance Single submitter
- PDE1B p.His178Asn Uncertain significance Single submitter
- PDE1B p.Ile313Val Uncertain significance Single submitter
- PDE1B p.Ile53Thr Uncertain significance Single submitter
- PDE1B p.Leu467Pro Uncertain significance Single submitter
- PDE1B p.Met11Ile Uncertain significance Single submitter
- PDE1B p.Phe340Ile Uncertain significance Single submitter
- PDE1B p.Pro18Ala Uncertain significance Single submitter
- PDE1B p.Pro18Gln Uncertain significance Single submitter
- PDE1B p.Pro515Ala Uncertain significance Single submitter
- PDE1B p.Pro515Arg Uncertain significance Single submitter
- PDE1B p.Pro522Ala Uncertain significance Single submitter
- PDE1B p.Pro522Arg Uncertain significance Single submitter
- PDE1B p.Thr484Ile Uncertain significance Single submitter
- PDE1B p.Tyr286His Uncertain significance Single submitter
- PDE1B p.Val471Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- PDE1B p.Arg302Gln Uncertain significance Single submitter
- PDE1B p.Asp307His Uncertain significance Single submitter
- PDE1B p.Cys165Trp Uncertain significance Single submitter
- PDE1B p.Gln130Arg Uncertain significance Single submitter
- PDE1B p.Gln351Glu Uncertain significance Single submitter
- PDE1B p.Glu281Ala Uncertain significance Single submitter
- PDE1B p.Ile276Thr Uncertain significance Single submitter
- PDE1B p.Pro446Leu Uncertain significance Single submitter
- PDE1B p.Ser95Leu Uncertain significance Single submitter
All PDE1B variants
Benign 1
- p.Phe134= Single submitter
Uncertain significance 44
- c.735+5G>A Single submitter Delayed speech and language development
- p.Ala448Thr Single submitter ⚠
- p.Ala92Ser Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg36Pro Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Arg412Cys Single submitter ⚠
- p.Arg463His Single submitter ⚠
- p.Arg482His Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Arg98Trp Single submitter ⚠
- p.Asn192Asp Single submitter ⚠
- p.Asp307His Single submitter ⚠
- p.Asp438Glu Single submitter
- p.Asp511His Single submitter ⚠
- p.Cys157Tyr Single submitter ⚠
- p.Cys165Trp Single submitter ⚠
- p.Gln130Arg Single submitter ⚠
- p.Gln351Glu Single submitter ⚠
- p.Gln445Glu Single submitter ⚠
- p.Gln86Ter Single submitter Delayed speech and language development
- p.Glu281Ala Single submitter ⚠
- p.Glu329Gln Single submitter ⚠
- p.Glu74Lys Single submitter
- p.His178Asn Single submitter ⚠
- p.Ile276Thr Single submitter ⚠
- p.Ile313Val Single submitter ⚠
- p.Ile53Thr Single submitter ⚠
- p.Leu467Pro Single submitter ⚠
- p.Met11Ile Single submitter ⚠
- p.Phe340Ile Single submitter ⚠
- p.Pro18Ala Single submitter ⚠
- p.Pro18Gln Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro515Ala Single submitter ⚠
- p.Pro515Arg Single submitter ⚠
- p.Pro522Ala Single submitter ⚠
- p.Pro522Arg Single submitter ⚠
- p.Ser95Leu Single submitter ⚠
- p.Thr484Ile Single submitter ⚠
- p.Tyr286His Single submitter ⚠
- p.Val471Met Single submitter ⚠