PDE6H — 77 ClinVar variants
All ClinVar germline PDE6H variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
3 Conflicting · 5 Benign · 1 Benign/Likely benign · 25 Likely benign · 43 Uncertain significance
Full PDE6H gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PDE6H p.Ala78Ser
Conflicting
Single submitter
achromatopsia 6
Predictors lean, ClinVar uncertain 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PDE6H p.Arg20His
Uncertain significance
Multiple submitters
achromatopsia 6
- PDE6H p.Asp3Glu Uncertain significance Multiple submitters
- PDE6H p.Gly15Cys Uncertain significance Multiple submitters
- PDE6H p.Ala11Val Uncertain significance Single submitter
- PDE6H p.Arg20Leu Uncertain significance Single submitter
- PDE6H p.Ile83Leu Uncertain significance Single submitter
- PDE6H p.Lys44Thr Uncertain significance Single submitter
- PDE6H p.Pro16Ser Uncertain significance Single submitter
- PDE6H p.Thr18Ile Uncertain significance Single submitter
- PDE6H p.Thr58Ala Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- PDE6H p.Arg32His Uncertain significance Multiple submitters
- PDE6H p.Asp59Gly Uncertain significance Multiple submitters
-
PDE6H p.Gln79His
Uncertain significance
Multiple submitters
achromatopsia 6
- PDE6H p.Gly42Asp Uncertain significance Multiple submitters
- PDE6H p.Leu72Met Uncertain significance Multiple submitters
- PDE6H p.Ala78Thr Uncertain significance Single submitter
- PDE6H p.Arg20Cys Uncertain significance Single submitter
- PDE6H p.Gly42Ser Uncertain significance Single submitter
- PDE6H p.Gly55Glu Uncertain significance Single submitter
- PDE6H p.Gly57Arg Uncertain significance Single submitter
- PDE6H p.His75Arg Uncertain significance Single submitter
- PDE6H p.Ile60Ser Uncertain significance Single submitter
- PDE6H p.Leu77Phe Uncertain significance Single submitter
- PDE6H p.Lys21Glu Uncertain significance Single submitter
- PDE6H p.Met53Arg Uncertain significance Single submitter
- PDE6H p.Pro38Leu Uncertain significance Single submitter
- PDE6H p.Pro38Thr Uncertain significance Single submitter
- PDE6H p.Pro39Arg Uncertain significance Single submitter
- PDE6H p.Val43Glu Uncertain significance Single submitter
-
PDE6H p.Glu54Lys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All PDE6H variants
Conflicting classifications of pathogenicity 3
- c.175+1_175+5del Single submitter
- p.Ala78Ser Single submitter achromatopsia 6 ⚠
- p.Ser12Ter Single submitter achromatopsia 6
Benign 5
Benign/Likely benign 1
- c.-29G>C Multiple submitters achromatopsia 6
Likely benign 25
- c.175+10C>G Multiple submitters
- p.Glu76= Multiple submitters
- p.Pro24= Multiple submitters
- c.134+16A>C Single submitter
- c.134+17A>G Single submitter
- c.134+17A>T Single submitter
- c.135-11C>G Single submitter
- c.135-4A>G Single submitter
- c.135-5C>T Single submitter
- c.176-11A>G Single submitter
- c.176-4G>A Single submitter
- c.176-4G>T Single submitter
- c.*18C>T Single submitter
- p.Ala68= Single submitter
- p.Gln30= Single submitter
- p.Gln33= Single submitter
- p.Gly22= Single submitter
- p.Gly45= Single submitter
- p.Gly47= Single submitter
- p.Gly55= Single submitter
- p.His71= Single submitter
- p.Leu56= Single submitter
- p.Leu77= Single submitter
- p.Phe80= Single submitter
- p.Pro39= Single submitter
Uncertain significance 43
- p.Arg20His Multiple submitters achromatopsia 6 ⚠
- p.Arg32His Multiple submitters ⚠
- p.Asp3Glu Multiple submitters ⚠
- p.Asp59Gly Multiple submitters ⚠
- p.Gln79His Multiple submitters achromatopsia 6 ⚠
- p.Gly15Cys Multiple submitters ⚠
- p.Gly42Asp Multiple submitters ⚠
- p.Leu72Met Multiple submitters ⚠
- c.134+6A>G Single submitter
- c.135-2A>G Single submitter achromatopsia 6
- c.-42C>T Single submitter achromatopsia 6
- c.*134G>A Single submitter achromatopsia 6
- c.*358T>G Single submitter achromatopsia 6
- c.*369A>G Single submitter achromatopsia 6
- c.*47G>C Single submitter achromatopsia 6
- c.*71C>T Single submitter achromatopsia 6
- c.*77C>G Single submitter achromatopsia 6
- p.Ala11Val Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Arg20_Pro24del Single submitter
- p.Arg20Cys Single submitter ⚠
- p.Arg20Leu Single submitter ⚠
- p.Gln79Ter Single submitter
- p.Glu67Ter Single submitter
- p.Gly42Ser Single submitter ⚠
- p.Gly55Glu Single submitter ⚠
- p.Gly57Arg Single submitter ⚠
- p.His75Arg Single submitter ⚠
- p.Ile60Ser Single submitter ⚠
- p.Ile83Leu Single submitter ⚠
- p.Leu77Phe Single submitter ⚠
- p.Lys21Glu Single submitter ⚠
- p.Lys44Thr Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met53Arg Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro38Thr Single submitter ⚠
- p.Pro39Arg Single submitter ⚠
- p.Thr18Ile Single submitter ⚠
- p.Thr58Ala Single submitter ⚠
- p.Val43Glu Single submitter ⚠
- p.Glu54Lys No assertion criteria inherited retinal dystrophy ⚠