PDE6G — 123 ClinVar variants
All ClinVar germline PDE6G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 6 Conflicting · 8 Benign · 2 Benign/Likely benign · 41 Likely benign · 61 Uncertain significance
Full PDE6G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDE6G p.Arg11Gln Uncertain significance Multiple submitters
- PDE6G p.Arg11Trp Uncertain significance Multiple submitters
-
PDE6G p.Asn2Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- PDE6G p.Gly18Arg Uncertain significance Multiple submitters
- PDE6G p.Leu76Pro Uncertain significance Multiple submitters
-
PDE6G p.Pro5Leu
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PDE6G p.Val47Ile Uncertain significance Multiple submitters
- PDE6G p.Arg11Leu Uncertain significance Single submitter
- PDE6G p.Glu9Asp Uncertain significance Single submitter
- PDE6G p.Leu3Val Uncertain significance Single submitter
- PDE6G p.Lys7Thr Uncertain significance Single submitter
- PDE6G p.Pro5Arg Uncertain significance Single submitter
-
PDE6G p.Pro6Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- PDE6G p.Thr14Ala Uncertain significance Single submitter
- PDE6G p.Val47Phe Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- PDE6G p.Ala72Gly Uncertain significance Multiple submitters
- PDE6G p.Arg24Met Uncertain significance Multiple submitters
- PDE6G p.Arg33Gln Uncertain significance Multiple submitters
- PDE6G p.Asn74Lys Uncertain significance Multiple submitters
- PDE6G p.Asp52Ala Uncertain significance Multiple submitters
- PDE6G p.Gln83Arg Uncertain significance Multiple submitters
-
PDE6G p.Gly59Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa
- PDE6G p.Val47Gly Likely benign Multiple submitters
- PDE6G p.Ala72Thr Uncertain significance Single submitter
- PDE6G p.Ala72Val Uncertain significance Single submitter
- PDE6G p.Ala82Val Uncertain significance Single submitter
- PDE6G p.Arg33Gly Uncertain significance Single submitter
- PDE6G p.Glu80Lys Uncertain significance Single submitter
-
PDE6G p.Gly19Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- PDE6G p.Gly56Glu Uncertain significance Single submitter
- PDE6G p.Gly59Asp Uncertain significance Single submitter
- PDE6G p.Gly59Val Uncertain significance Single submitter
- PDE6G p.Gly61Arg Uncertain significance Single submitter
- PDE6G p.His75Asn Uncertain significance Single submitter
- PDE6G p.Ile86Phe Uncertain significance Single submitter
- PDE6G p.Leu60Pro Uncertain significance Single submitter
-
PDE6G p.Lys39Asn
Conflicting
Single submitter
retinitis pigmentosa
- PDE6G p.Lys41Asn Uncertain significance Single submitter
- PDE6G p.Phe50Leu Uncertain significance Single submitter
- PDE6G p.Pro28His Uncertain significance Single submitter
- PDE6G p.Pro69His Uncertain significance Single submitter
- PDE6G p.Thr65Ile Uncertain significance Single submitter
- PDE6G p.Trp70Cys Uncertain significance Single submitter
- PDE6G p.Tyr84His Uncertain significance Single submitter
All PDE6G variants
Pathogenic 4
- c.146+1G>T Single submitter inherited retinal dystrophy
- c.187+1G>T Single submitter PDE6G-related disorders
- p.Arg24fs Single submitter
- p.Arg33Ter Single submitter
Likely pathogenic 1
- p.Met1Lys Single submitter PDE6G-related disorders
Conflicting classifications of pathogenicity 6
Benign 8
- c.*233T>C Multiple submitters retinitis pigmentosa
- c.*274C>T Multiple submitters retinitis pigmentosa
- c.*316G>A Multiple submitters retinitis pigmentosa
- c.*393C>T Multiple submitters retinitis pigmentosa
- c.*399C>T Multiple submitters retinitis pigmentosa
- c.*45G>A Multiple submitters retinitis pigmentosa 57
- c.*484T>G Multiple submitters retinitis pigmentosa
- c.*570T>C Multiple submitters retinitis pigmentosa
Benign/Likely benign 2
- c.187+16G>A Multiple submitters
- p.Asp52= Multiple submitters inherited retinal dystrophy
Likely benign 41
- c.146+12T>C Multiple submitters
- c.187+7C>T Multiple submitters
- c.188-20G>A Multiple submitters
- c.188-20G>C Multiple submitters
- p.Asn2= Multiple submitters
- p.Gly46= Multiple submitters
- p.Gly51= Multiple submitters
- p.His79= Multiple submitters
- p.Ile86= Multiple submitters
- p.Lys25Arg Multiple submitters
- p.Pro5= Multiple submitters
- p.Pro69= Multiple submitters
- p.Val47Gly Multiple submitters ⚠
- c.146+10G>A Single submitter
- c.146+18del Single submitter
- c.146+20G>A Single submitter
- c.147-18_147-16del Single submitter
- c.147-7C>G Single submitter
- c.187+13C>T Single submitter
- c.187+20C>G Single submitter
- c.187+8G>A Single submitter
- c.187+9G>A Single submitter
- c.188-14C>T Single submitter
- c.188-20G>T Single submitter
- c.-14C>T Single submitter
- c.-59-3197G>A Single submitter
- c.*526C>T Single submitter retinitis pigmentosa
- c.*563T>C Single submitter retinitis pigmentosa
- c.*6G>C Single submitter
- p.Ala13= Single submitter
- p.Ala72= Single submitter
- p.Arg24= Single submitter
- p.Asn74= Single submitter
- p.Gln48= Single submitter
- p.Gln83= Single submitter
- p.Gly18= Single submitter
- p.Ile54= Single submitter
- p.Lys41= Single submitter
- p.Lys7= Single submitter
- p.Pro28= Single submitter
- p.Val21= Single submitter
Uncertain significance 61
- c.146+4A>G Multiple submitters retinitis pigmentosa 57
- c.188-14C>A Multiple submitters
- p.Ala72Gly Multiple submitters ⚠
- p.Arg11Gln Multiple submitters ⚠
- p.Arg11Trp Multiple submitters ⚠
- p.Arg24Met Multiple submitters ⚠
- p.Arg33Gln Multiple submitters ⚠
- p.Asn2Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Asn74Lys Multiple submitters ⚠
- p.Asp52Ala Multiple submitters ⚠
- p.Gln83Arg Multiple submitters ⚠
- p.Gly18Arg Multiple submitters ⚠
- p.Gly59Ser Multiple submitters retinitis pigmentosa ⚠
- p.Leu76Pro Multiple submitters ⚠
- p.Met1Val Multiple submitters
- p.Pro5Leu Multiple submitters retinitis pigmentosa ⚠
- p.Val47Ile Multiple submitters ⚠
- c.146+3A>G Single submitter
- c.147-20T>C Single submitter
- c.147-9T>A Single submitter
- c.-100A>G Single submitter retinitis pigmentosa
- c.-57C>G Single submitter retinitis pigmentosa
- c.-92C>G Single submitter retinitis pigmentosa
- c.*207G>A Single submitter retinitis pigmentosa
- c.*342C>T Single submitter retinitis pigmentosa
- c.*420G>A Single submitter retinitis pigmentosa
- c.*4G>C Single submitter retinitis pigmentosa
- c.*529C>T Single submitter retinitis pigmentosa
- p.Ala72Thr Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Arg11Leu Single submitter ⚠
- p.Arg33Gly Single submitter ⚠
- p.Gln83Ter Single submitter
- p.Glu80Lys Single submitter ⚠
- p.Glu9= Single submitter inherited retinal dystrophy
- p.Glu9Asp Single submitter ⚠
- p.Gly19fs Single submitter
- p.Gly19Val Single submitter inherited retinal dystrophy ⚠
- p.Gly56Glu Single submitter ⚠
- p.Gly59Asp Single submitter ⚠
- p.Gly59Val Single submitter ⚠
- p.Gly61Arg Single submitter ⚠
- p.His75Asn Single submitter ⚠
- p.Ile86Phe Single submitter ⚠
- p.Leu3Val Single submitter ⚠
- p.Leu60Pro Single submitter ⚠
- p.Lys41Asn Single submitter ⚠
- p.Lys7Thr Single submitter ⚠
- p.Phe50Leu Single submitter ⚠
- p.Pro27Ser Single submitter
- p.Pro28His Single submitter ⚠
- p.Pro28Leu Single submitter
- p.Pro5Arg Single submitter ⚠
- p.Pro69His Single submitter ⚠
- p.Pro6Leu Single submitter inherited retinal dystrophy ⚠
- p.Thr14Ala Single submitter ⚠
- p.Thr65Ile Single submitter ⚠
- p.Trp70Cys Single submitter ⚠
- p.Tyr84His Single submitter ⚠
- p.Val47Phe Single submitter ⚠