CNGA3 — 785 ClinVar variants
All ClinVar germline CNGA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 329 flagged for review →
101 Pathogenic · 28 Pathogenic/Likely pathogenic · 87 Likely pathogenic · 59 Conflicting · 16 Benign · 7 Benign/Likely benign · 190 Likely benign · 297 Uncertain significance
Full CNGA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 329
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 vs ClinVar 16
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CNGA3 p.Arg223Gln
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
CNGA3 p.Arg223Trp
Pathogenic
Multiple submitters
achromatopsia
- CNGA3 p.Arg347Cys Pathogenic/Likely pathogenic Multiple submitters
-
CNGA3 p.Arg427Cys
Pathogenic
Multiple submitters
Abnormality of the eye
-
CNGA3 p.Arg439Trp
Pathogenic/Likely pathogenic
Multiple submitters
achromatopsia 2
-
CNGA3 p.Arg569Cys
Pathogenic/Likely pathogenic
Multiple submitters
achromatopsia 2
-
CNGA3 p.Arg569His
Pathogenic
Multiple submitters
achromatopsia 2
-
CNGA3 p.Asn276Ser
Likely pathogenic
Multiple submitters
achromatopsia
-
CNGA3 p.Val373Met
Pathogenic/Likely pathogenic
Multiple submitters
achromatopsia 2
- CNGA3 p.Arg427His Likely pathogenic Single submitter
- CNGA3 p.Arg72Lys Likely pathogenic Single submitter
-
CNGA3 p.Asn182Ser
Likely pathogenic
Single submitter
achromatopsia 2
- CNGA3 p.Cys191Ser Likely pathogenic Single submitter
- CNGA3 p.Pro163Thr Likely pathogenic Single submitter
-
CNGA3 p.Val160Ala
Likely pathogenic
Single submitter
achromatopsia 2
-
CNGA3 p.Glu106Lys
Likely pathogenic
No assertion criteria
maculopathy
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CNGA3 p.Ala158Val
Conflicting
Single submitter
Inborn genetic diseases
-
CNGA3 p.Ala323Pro
Conflicting
Single submitter
inherited retinal dystrophy
-
CNGA3 p.Ala621Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CNGA3 p.Ala71Thr
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Arg27His
Conflicting
Single submitter
Inborn genetic diseases
-
CNGA3 p.Arg302Ser
Conflicting
Single submitter
cone dystrophy
-
CNGA3 p.Arg563Cys
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Asp157Glu
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Asp507Gly
Conflicting
Single submitter
cone dystrophy
-
CNGA3 p.Asp533His
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Gln118Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CNGA3 p.Gln484Pro
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Met519Ile
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Met656Ile
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Pro95Leu
Conflicting
Single submitter
achromatopsia 2
- CNGA3 p.Ser355Arg Conflicting Single submitter
-
CNGA3 p.Ser37Leu
Conflicting
Single submitter
CNGA3-related retinopathy
-
CNGA3 p.Val540Ile
Conflicting
Single submitter
inherited retinal dystrophy
-
CNGA3 p.Val669Leu
Conflicting
Single submitter
CNGA3-related retinopathy
Predictors lean, ClinVar uncertain 156
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 156
-
CNGA3 p.Ala28Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ala597Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ala621Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ala653Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Arg129Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CNGA3 p.Arg170Cys Uncertain significance Multiple submitters
-
CNGA3 p.Arg23Gln
Uncertain significance
Multiple submitters
achromatopsia 2
-
CNGA3 p.Arg350Gly
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CNGA3 p.Arg75Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Asp532His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Gly684Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ile303Phe
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CNGA3 p.Lys108Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Lys659Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Met201Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Met52Val
Uncertain significance
Multiple submitters
achromatopsia 2
-
CNGA3 p.Pro178Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ser43Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ser560Leu
Uncertain significance
Multiple submitters
achromatopsia 2
- CNGA3 p.Thr369Asn Uncertain significance Multiple submitters
-
CNGA3 p.Thr687Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Val383Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Val495Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Val539Met
Uncertain significance
Multiple submitters
achromatopsia 2
- CNGA3 p.Ala105Val Uncertain significance Single submitter
-
CNGA3 p.Ala133Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Ala137Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Ala137Thr Uncertain significance Single submitter
- CNGA3 p.Ala158Glu Uncertain significance Single submitter
- CNGA3 p.Ala262Val Uncertain significance Single submitter
- CNGA3 p.Ala28Pro Uncertain significance Single submitter
- CNGA3 p.Ala446Thr Uncertain significance Single submitter
- CNGA3 p.Ala51Thr Uncertain significance Single submitter
- CNGA3 p.Ala58Val Uncertain significance Single submitter
-
CNGA3 p.Ala619Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Ala621Glu Uncertain significance Single submitter
-
CNGA3 p.Ala71Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Ala71Val Uncertain significance Single submitter
- CNGA3 p.Ala85Thr Uncertain significance Single submitter
- CNGA3 p.Arg101Gly Uncertain significance Single submitter
- CNGA3 p.Arg101His Uncertain significance Single submitter
- CNGA3 p.Arg103His Uncertain significance Single submitter
- CNGA3 p.Arg103Leu Uncertain significance Single submitter
- CNGA3 p.Arg170His Uncertain significance Single submitter
- CNGA3 p.Arg170Leu Uncertain significance Single submitter
- CNGA3 p.Arg189Met Uncertain significance Single submitter
- CNGA3 p.Arg27Gly Uncertain significance Single submitter
-
CNGA3 p.Arg27Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Arg81Leu Uncertain significance Single submitter
- CNGA3 p.Arg82Lys Uncertain significance Single submitter
- CNGA3 p.Asn26Ser Uncertain significance Single submitter
- CNGA3 p.Asn30Lys Uncertain significance Single submitter
-
CNGA3 p.Asn317Lys
Uncertain significance
Single submitter
CNGA3-related retinopathy
-
CNGA3 p.Asp100His
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Asp211Val Uncertain significance Single submitter
-
CNGA3 p.Asp217His
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CNGA3 p.Asp418Glu
Uncertain significance
Single submitter
achromatopsia 2
- CNGA3 p.Asp507Val Uncertain significance Single submitter
- CNGA3 p.Asp532Val Uncertain significance Single submitter
-
CNGA3 p.Asp543Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Asp575Glu Uncertain significance Single submitter
- CNGA3 p.Asp575His Uncertain significance Single submitter
- CNGA3 p.Asp583Tyr Uncertain significance Single submitter
- CNGA3 p.Asp685Gly Uncertain significance Single submitter
- CNGA3 p.Cys486Ser Uncertain significance Single submitter
- CNGA3 p.Gln47His Uncertain significance Single submitter
- CNGA3 p.Gln694Arg Uncertain significance Single submitter
-
CNGA3 p.Glu125Lys
Uncertain significance
Single submitter
achromatopsia 2
- CNGA3 p.Glu29Asp Uncertain significance Single submitter
- CNGA3 p.Glu41Gly Uncertain significance Single submitter
- CNGA3 p.Glu53Gln Uncertain significance Single submitter
- CNGA3 p.Glu549Asp Uncertain significance Single submitter
-
CNGA3 p.Glu615Asp
Uncertain significance
Single submitter
achromatopsia 2
-
CNGA3 p.Glu681Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Glu681Lys Uncertain significance Single submitter
-
CNGA3 p.Glu690Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Gly602Val Uncertain significance Single submitter
- CNGA3 p.Gly61Arg Uncertain significance Single submitter
- CNGA3 p.Gly63Ser Uncertain significance Single submitter
- CNGA3 p.Gly67Ser Uncertain significance Single submitter
- CNGA3 p.Gly69Arg Uncertain significance Single submitter
- CNGA3 p.Gly94Ala Uncertain significance Single submitter
-
CNGA3 p.His10Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.His87Gln Uncertain significance Single submitter
- CNGA3 p.His89Arg Uncertain significance Single submitter
- CNGA3 p.Ile310Thr Uncertain significance Single submitter
- CNGA3 p.Ile328Leu Uncertain significance Single submitter
- CNGA3 p.Ile50Met Uncertain significance Single submitter
- CNGA3 p.Ile50Val Uncertain significance Single submitter
- CNGA3 p.Ile70Thr Uncertain significance Single submitter
- CNGA3 p.Leu177Gln Uncertain significance Single submitter
-
CNGA3 p.Leu185Val
Uncertain significance
Single submitter
achromatopsia 2
-
CNGA3 p.Leu195Pro
Uncertain significance
Single submitter
achromatopsia 2
- CNGA3 p.Leu206Pro Uncertain significance Single submitter
- CNGA3 p.Leu256Pro Uncertain significance Single submitter
- CNGA3 p.Leu25Pro Uncertain significance Single submitter
- CNGA3 p.Leu311Pro Uncertain significance Single submitter
- CNGA3 p.Leu363Phe Uncertain significance Single submitter
- CNGA3 p.Leu444Pro Uncertain significance Single submitter
- CNGA3 p.Leu46Pro Uncertain significance Single submitter
-
CNGA3 p.Leu553Gln
Uncertain significance
Single submitter
achromatopsia 2
- CNGA3 p.Leu576Arg Uncertain significance Single submitter
- CNGA3 p.Leu637Pro Uncertain significance Single submitter
- CNGA3 p.Lys17Arg Uncertain significance Single submitter
- CNGA3 p.Lys19Asn Uncertain significance Single submitter
- CNGA3 p.Lys244Arg Uncertain significance Single submitter
-
CNGA3 p.Lys512Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Lys595Arg
Uncertain significance
Single submitter
achromatopsia 2
- CNGA3 p.Lys624Arg Uncertain significance Single submitter
-
CNGA3 p.Lys624Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Lys670Asn Uncertain significance Single submitter
- CNGA3 p.Lys692Gln Uncertain significance Single submitter
- CNGA3 p.Met402Ile Uncertain significance Single submitter
-
CNGA3 p.Met52Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Met585Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Met607Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Met607Val Uncertain significance Single submitter
- CNGA3 p.Met658Ile Uncertain significance Single submitter
- CNGA3 p.Phe180Leu Uncertain significance Single submitter
- CNGA3 p.Phe192Cys Uncertain significance Single submitter
- CNGA3 p.Phe192Ser Uncertain significance Single submitter
- CNGA3 p.Phe281Ser Uncertain significance Single submitter
- CNGA3 p.Phe380Leu Uncertain significance Single submitter
-
CNGA3 p.Pro135Thr
Uncertain significance
Single submitter
CNGA3-related retinopathy
-
CNGA3 p.Pro370Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Pro676Ser Uncertain significance Single submitter
- CNGA3 p.Pro95Ser Uncertain significance Single submitter
- CNGA3 p.Pro99Ser Uncertain significance Single submitter
-
CNGA3 p.Ser115Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Ser33Arg Uncertain significance Single submitter
-
CNGA3 p.Ser574Pro
Uncertain significance
Single submitter
retinal disorder
- CNGA3 p.Ser667Arg Uncertain significance Single submitter
- CNGA3 p.Ser74Trp Uncertain significance Single submitter
-
CNGA3 p.Thr141Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Thr259Pro Uncertain significance Single submitter
-
CNGA3 p.Thr295Ile
Uncertain significance
Single submitter
achromatopsia 2
-
CNGA3 p.Thr364Asn
Uncertain significance
Single submitter
inherited retinal dystrophy
- CNGA3 p.Thr42Ala Uncertain significance Single submitter
-
CNGA3 p.Thr639Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Thr642Asn Uncertain significance Single submitter
- CNGA3 p.Tyr199His Uncertain significance Single submitter
- CNGA3 p.Tyr214His Uncertain significance Single submitter
- CNGA3 p.Tyr270His Uncertain significance Single submitter
- CNGA3 p.Tyr321His Uncertain significance Single submitter
-
CNGA3 p.Tyr337His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Tyr423His
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Val381Glu Uncertain significance Single submitter
-
CNGA3 p.Val437Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Val472Leu Uncertain significance Single submitter
- CNGA3 p.Val495Met Uncertain significance Single submitter
Predictors split 138
The independent predictors disagree with each other — read with care.
-
CNGA3 p.Ala262Pro
Likely pathogenic
Multiple submitters
achromatopsia 2
-
CNGA3 p.Ala488Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Arg223Gly
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Arg277His
Pathogenic
Multiple submitters
achromatopsia
-
CNGA3 p.Arg283Gln
Pathogenic
Multiple submitters
inherited retinal dystrophy
-
CNGA3 p.Arg290Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Arg410Trp
Pathogenic
Multiple submitters
inherited retinal dystrophy
-
CNGA3 p.Arg436Trp
Pathogenic
Multiple submitters
inherited retinal dystrophy
-
CNGA3 p.Arg499Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Arg603Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Arg646Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Arg81His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Asp162Val
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
- CNGA3 p.Asp193Asn Uncertain significance Multiple submitters
-
CNGA3 p.Asp583Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Asp613Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CNGA3 p.Glu376Asp Uncertain significance Multiple submitters
-
CNGA3 p.Ile417Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ile468Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Ile555Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Leu261Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Leu311Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Leu490Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Phe275Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Pro163Leu
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
CNGA3 p.Thr153Met
Benign/Likely benign
Multiple submitters
achromatopsia 2
- CNGA3 p.Thr501Pro Uncertain significance Multiple submitters
-
CNGA3 p.Tyr168His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNGA3 p.Tyr181Cys
Pathogenic
Multiple submitters
achromatopsia 2
-
CNGA3 p.Val160Met
Uncertain significance
Multiple submitters
achromatopsia 2
-
CNGA3 p.Val539Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CNGA3 p.Ala2Pro Uncertain significance Single submitter
-
CNGA3 p.Ala408Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Ala408Val Uncertain significance Single submitter
-
CNGA3 p.Ala469Thr
Pathogenic
Single submitter
cone dystrophy
- CNGA3 p.Ala488Thr Uncertain significance Single submitter
- CNGA3 p.Ala619Val Uncertain significance Single submitter
- CNGA3 p.Arg101Cys Uncertain significance Single submitter
-
CNGA3 p.Arg103Cys
Conflicting
Single submitter
Inborn genetic diseases
- CNGA3 p.Arg221Gln Uncertain significance Single submitter
- CNGA3 p.Arg221Gly Uncertain significance Single submitter
- CNGA3 p.Arg27Cys Likely benign Single submitter
-
CNGA3 p.Arg290His
Conflicting
Single submitter
CNGA3-related disorder
- CNGA3 p.Arg347His Uncertain significance Single submitter
- CNGA3 p.Arg410Gln Uncertain significance Single submitter
-
CNGA3 p.Arg410Leu
Conflicting
Single submitter
achromatopsia 2
- CNGA3 p.Arg436Gln Conflicting Single submitter
- CNGA3 p.Arg439Gln Uncertain significance Single submitter
- CNGA3 p.Arg439Leu Uncertain significance Single submitter
- CNGA3 p.Arg481Cys Uncertain significance Single submitter
-
CNGA3 p.Arg481His
Uncertain significance
Single submitter
achromatopsia 2
- CNGA3 p.Arg481Leu Uncertain significance Single submitter
- CNGA3 p.Arg481Ser Uncertain significance Single submitter
- CNGA3 p.Arg643Ser Uncertain significance Single submitter
- CNGA3 p.Arg646His Uncertain significance Single submitter
- CNGA3 p.Arg661Cys Pathogenic Single submitter
-
CNGA3 p.Arg661His
Conflicting
Single submitter
achromatopsia 2
- CNGA3 p.Arg81Cys Uncertain significance Single submitter
- CNGA3 p.Asn299Ser Uncertain significance Single submitter
-
CNGA3 p.Asn447Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Asn471Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- CNGA3 p.Asn652Lys Uncertain significance Single submitter
-
CNGA3 p.Asp235Val
Pathogenic
Single submitter
achromatopsia
-
CNGA3 p.Asp452Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Asp514Glu Uncertain significance Single submitter
-
CNGA3 p.Glu194Lys
Conflicting
Single submitter
CNGA3-related retinopathy
-
CNGA3 p.Glu228Lys
Conflicting
Single submitter
inherited retinal dystrophy
-
CNGA3 p.Glu376Lys
Conflicting
Single submitter
inherited retinal dystrophy
- CNGA3 p.Glu412Asp Uncertain significance Single submitter
- CNGA3 p.Glu524Lys Uncertain significance Single submitter
-
CNGA3 p.Glu593Lys
Conflicting
Single submitter
achromatopsia
- CNGA3 p.Glu599Lys Uncertain significance Single submitter
-
CNGA3 p.Glu650Ala
Uncertain significance
Single submitter
inherited retinal dystrophy
- CNGA3 p.Gly225Ser Uncertain significance Single submitter
- CNGA3 p.Gly49Trp Uncertain significance Single submitter
- CNGA3 p.Gly672Val Uncertain significance Single submitter
-
CNGA3 p.Gly684Arg
Uncertain significance
Single submitter
achromatopsia 2
- CNGA3 p.His242Asp Uncertain significance Single submitter
-
CNGA3 p.His345Arg
Conflicting
Single submitter
achromatopsia 2
- CNGA3 p.Ile175Thr Uncertain significance Single submitter
- CNGA3 p.Ile303Thr Uncertain significance Single submitter
- CNGA3 p.Ile320Thr Uncertain significance Single submitter
-
CNGA3 p.Ile328Thr
Conflicting
Single submitter
achromatopsia 2
- CNGA3 p.Ile395Val Uncertain significance Single submitter
- CNGA3 p.Ile509Val Uncertain significance Single submitter
- CNGA3 p.Ile521Val Uncertain significance Single submitter
- CNGA3 p.Ile571Thr Conflicting Single submitter
-
CNGA3 p.Leu213Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Leu254Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Leu264Ile Benign Single submitter
- CNGA3 p.Leu647Phe Uncertain significance Single submitter
- CNGA3 p.Lys152Arg Uncertain significance Single submitter
- CNGA3 p.Lys428Glu Uncertain significance Single submitter
-
CNGA3 p.Lys448Arg
Conflicting
Single submitter
inherited retinal dystrophy
-
CNGA3 p.Lys497Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Lys511Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Lys595Glu Uncertain significance Single submitter
-
CNGA3 p.Met402Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Met402Val Uncertain significance Single submitter
-
CNGA3 p.Met406Thr
Conflicting
Single submitter
achromatopsia
-
CNGA3 p.Met424Val
Likely pathogenic
Single submitter
retinal disorder
-
CNGA3 p.Pro163Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CNGA3 p.Pro271Ala
Conflicting
Single submitter
inherited retinal dystrophy
- CNGA3 p.Pro343Ser Uncertain significance Single submitter
- CNGA3 p.Pro371Leu Uncertain significance Single submitter
- CNGA3 p.Pro592Ala Pathogenic Single submitter
-
CNGA3 p.Ser111Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Ser111Tyr
Uncertain significance
Single submitter
achromatopsia
- CNGA3 p.Ser112Cys Uncertain significance Single submitter
- CNGA3 p.Ser334Phe Pathogenic Single submitter
-
CNGA3 p.Ser355Gly
Pathogenic
Single submitter
achromatopsia 2
- CNGA3 p.Ser419Phe Uncertain significance Single submitter
-
CNGA3 p.Ser504Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Ser558Thr Uncertain significance Single submitter
-
CNGA3 p.Thr147Arg
Conflicting
Single submitter
achromatopsia 2
-
CNGA3 p.Thr224Ala
Likely pathogenic
Single submitter
inherited retinal dystrophy
- CNGA3 p.Thr245Met Likely benign Single submitter
-
CNGA3 p.Thr247Met
Conflicting
Single submitter
inherited retinal dystrophy
-
CNGA3 p.Thr332Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CNGA3 p.Thr369Ile Uncertain significance Single submitter
- CNGA3 p.Thr435Met Likely benign Single submitter
-
CNGA3 p.Thr450Met
Conflicting
Single submitter
CNGA3-related retinopathy
- CNGA3 p.Thr476Met Uncertain significance Single submitter
-
CNGA3 p.Trp134Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNGA3 p.Tyr354Cys
Uncertain significance
Single submitter
achromatopsia 2
-
CNGA3 p.Val160Gly
Likely pathogenic
Single submitter
achromatopsia 2
- CNGA3 p.Val179Phe Uncertain significance Single submitter
- CNGA3 p.Val220Ala Uncertain significance Single submitter
-
CNGA3 p.Val266Met
Conflicting
Single submitter
achromatopsia
-
CNGA3 p.Val307Ile
Conflicting
Single submitter
Inborn genetic diseases
- CNGA3 p.Val451Glu Uncertain significance Single submitter
- CNGA3 p.Val456Gly Uncertain significance Single submitter
- CNGA3 p.Val630Met Uncertain significance Single submitter
- CNGA3 p.Val669Ala Uncertain significance Single submitter
- CNGA3 p.Val682Phe Uncertain significance Single submitter
-
CNGA3 p.Pro271Thr
Likely pathogenic
No assertion criteria
achromatopsia 2
-
CNGA3 p.Ser197Pro
Likely pathogenic
No assertion criteria
achromatopsia 2
-
CNGA3 p.Val630Ala
Uncertain significance
No assertion criteria
achromatopsia 2
All CNGA3 variants
Pathogenic 101
- c.450-1G>A Multiple submitters CNGA3-related disorder
- p.Ala411fs Multiple submitters achromatopsia 2
- p.Arg129Ter Multiple submitters
- p.Arg223Trp Multiple submitters achromatopsia ⚠
- p.Arg274Ser Multiple submitters achromatopsia 2
- p.Arg277His Multiple submitters achromatopsia ⚠
- p.Arg283Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg410Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Arg427Cys Multiple submitters Abnormality of the eye ⚠
- p.Arg436Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Arg499Ter Multiple submitters achromatopsia 2
- p.Arg55Ter Multiple submitters
- p.Arg569His Multiple submitters achromatopsia 2 ⚠
- p.Asp507fs Multiple submitters achromatopsia 2
- p.Cys191Tyr Multiple submitters inherited retinal dystrophy
- p.Gln196Ter Multiple submitters inherited retinal dystrophy
- p.Gln91Ter Multiple submitters inherited retinal dystrophy
- p.Glu590Lys Multiple submitters achromatopsia 2
- p.Gly513Arg Multiple submitters inherited retinal dystrophy
- p.Gly548Arg Multiple submitters achromatopsia 2
- p.Ile482fs Multiple submitters achromatopsia 2
- p.Ile605fs Multiple submitters
- p.Leu167fs Multiple submitters achromatopsia
- p.Leu363Pro Multiple submitters achromatopsia 2
- p.Leu584fs Multiple submitters achromatopsia
- p.Pro372Ser Multiple submitters achromatopsia 2
- p.Ser21Ter Multiple submitters achromatopsia 2
- p.Ser341Pro Multiple submitters inherited retinal dystrophy
- p.Ser401Pro Multiple submitters achromatopsia 2
- p.Thr565Met Multiple submitters inherited retinal dystrophy
- p.Trp171Ter Multiple submitters achromatopsia 2
- p.Trp358Ter Multiple submitters achromatopsia 2
- p.Trp83Ter Multiple submitters achromatopsia 2
- p.Tyr181Cys Multiple submitters achromatopsia 2 ⚠
- p.Tyr573His Multiple submitters achromatopsia 2
- p.Val373fs Multiple submitters
- c.673+1G>A Single submitter
- p.Ala174fs Single submitter
- p.Ala318Thr Single submitter
- p.Ala469Thr Single submitter cone dystrophy ⚠
- p.Arg283Pro Single submitter
- p.Arg569Gly Single submitter
- p.Arg661Cys Single submitter ⚠
- p.Asn26fs Single submitter achromatopsia 2
- p.Asp162fs Single submitter
- p.Asp235Val Single submitter achromatopsia ⚠
- p.Asp514Val Single submitter
- p.Gln196Arg Single submitter
- p.Glu106Ter Single submitter
- p.Glu114Ter Single submitter achromatopsia 2
- p.Glu272Ter Single submitter
- p.Gly513Ter Single submitter
- p.Gly525Ser Single submitter achromatopsia 2
- p.His36fs Single submitter
- p.Ile187Thr Single submitter achromatopsia 2
- p.Ile4fs Single submitter
- p.Ile50fs Single submitter
- p.Leu136fs Single submitter
- p.Leu177fs Single submitter
- p.Leu278Pro Single submitter
- p.Leu32fs Single submitter
- p.Leu527Arg Single submitter
- p.Leu598Pro Single submitter
- p.Lys465_Ile470del Single submitter achromatopsia 2
- p.Phe249Ser Single submitter
- p.Phe547Cys Single submitter
- p.Phe547Leu Single submitter
- p.Pro371fs Single submitter
- p.Pro372_Val373insTer Single submitter
- p.Pro372Leu Single submitter achromatopsia 2
- p.Pro592Ala Single submitter ⚠
- p.Pro592Leu Single submitter achromatopsia 2
- p.Ser164fs Single submitter
- p.Ser209Pro Single submitter cone dystrophy
- p.Ser334Phe Single submitter ⚠
- p.Ser355Gly Single submitter achromatopsia 2 ⚠
- p.Ser37fs Single submitter
- p.Ser419Pro Single submitter achromatopsia
- p.Ser560Ter Single submitter
- p.Ser570Gly Single submitter achromatopsia 2
- p.Thr236fs Single submitter
- p.Thr291Arg Single submitter inherited retinal dystrophy
- p.Trp171Cys Single submitter
- p.Trp171fs Single submitter
- p.Trp183Ter Single submitter
- p.Trp316Ter Single submitter
- p.Trp440fs Single submitter achromatopsia 2
- p.Trp440Ser Single submitter
- p.Trp440Ter Single submitter
- p.Trp445Ter Single submitter
- p.Tyr357Cys Single submitter
- p.Tyr357Ter Single submitter
- p.Tyr423fs Single submitter
- p.Tyr8Ter Single submitter
- p.Val307fs Single submitter
- p.Val336fs Single submitter
- p.Val451fs Single submitter
- p.Val535fs Single submitter Inborn genetic diseases
- p.Asp432fs No assertion criteria achromatopsia
- p.Lys155fs No assertion criteria achromatopsia 2
- p.Val437fs No assertion criteria achromatopsia 2
Pathogenic/Likely pathogenic 28
- c.396-11C>G Multiple submitters achromatopsia 2
- p.Arg221Ter Multiple submitters retinal disorder
- p.Arg223Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg223Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg23Ter Multiple submitters achromatopsia 2
- p.Arg277Cys Multiple submitters optic atrophy
- p.Arg283Trp Multiple submitters inherited retinal dystrophy
- p.Arg347Cys Multiple submitters ⚠
- p.Arg439Trp Multiple submitters achromatopsia 2 ⚠
- p.Arg563His Multiple submitters inherited retinal dystrophy
- p.Arg569Cys Multiple submitters achromatopsia 2 ⚠
- p.Arg661Ser Multiple submitters achromatopsia 2
- p.Asp162Val Multiple submitters inherited retinal dystrophy ⚠
- p.Asp260Asn Multiple submitters inherited retinal dystrophy
- p.Asp260fs Multiple submitters achromatopsia 2
- p.Cys319Arg Multiple submitters achromatopsia 2
- p.Glu344Ter Multiple submitters
- p.Gly329Cys Multiple submitters achromatopsia 2
- p.Gly331Glu Multiple submitters achromatopsia 2
- p.Gly557Arg Multiple submitters Inborn genetic diseases
- p.Ile314del Multiple submitters inherited retinal dystrophy
- p.Ile522Thr Multiple submitters achromatopsia 2
- p.Pro163Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Ser111Ter Multiple submitters inherited retinal dystrophy
- p.Trp240Ter Multiple submitters
- p.Val373Met Multiple submitters achromatopsia 2 ⚠
- p.Val529Met Multiple submitters CNGA3-related retinopathy
- p.Phe301Ter No assertion criteria achromatopsia 2
Likely pathogenic 87
- c.216-1G>A Multiple submitters achromatopsia 2
- p.Ala262Pro Multiple submitters achromatopsia 2 ⚠
- p.Ala51fs Multiple submitters achromatopsia 2
- p.Arg283Leu Multiple submitters achromatopsia 2
- p.Arg427Leu Multiple submitters achromatopsia 2
- p.Asn276Ser Multiple submitters achromatopsia ⚠
- p.Gln604Ter Multiple submitters
- p.Gly397Val Multiple submitters achromatopsia 2
- p.Phe644Ser Multiple submitters achromatopsia 2
- p.Trp203Cys Multiple submitters inherited retinal dystrophy
- c.448_449+2del Single submitter
- c.566_566+1delinsAT Single submitter
- c.567-1G>A Single submitter
- p.Ala469Pro Single submitter
- p.Arg427His Single submitter ⚠
- p.Arg603Pro Single submitter
- p.Arg72Lys Single submitter ⚠
- p.Asn182Ser Single submitter achromatopsia 2 ⚠
- p.Asn562Lys Single submitter inherited retinal dystrophy
- p.Asp252Gly Single submitter
- p.Cys191Ser Single submitter ⚠
- p.Cys486Arg Single submitter inherited retinal dystrophy
- p.Cys486Tyr Single submitter
- p.Gln196Leu Single submitter
- p.Gln660Ter Single submitter
- p.Gln68fs Single submitter achromatopsia 2
- p.Glu194Ter Single submitter achromatopsia 2
- p.Glu377del Single submitter inherited retinal dystrophy
- p.Glu412fs Single submitter achromatopsia 2
- p.Glu453Lys Single submitter
- p.Gly304Arg Single submitter cone-rod dystrophy
- p.Gly346Trp Single submitter
- p.Gly367Val Single submitter achromatopsia 2
- p.Gly548Trp Single submitter
- p.Gly572Asp Single submitter
- p.Gly672fs Single submitter achromatopsia 2
- p.Ile366Thr Single submitter
- p.Ile552Thr Single submitter
- p.Ile571Asn Single submitter
- p.Leu390fs Single submitter achromatopsia 2
- p.Leu527Pro Single submitter inherited retinal dystrophy
- p.Leu579Arg Single submitter inherited retinal dystrophy
- p.Lys581fs Single submitter
- p.Met424Val Single submitter retinal disorder ⚠
- p.Phe380Ser Single submitter
- p.Pro163Thr Single submitter ⚠
- p.Pro271Ser Single submitter inherited retinal dystrophy
- p.Ser209Ter Single submitter achromatopsia 2
- p.Thr224Ala Single submitter inherited retinal dystrophy ⚠
- p.Thr362Ile Single submitter achromatopsia 2
- p.Trp316Gly Single submitter
- p.Trp358Ser Single submitter cone-rod dystrophy
- p.Tyr181fs Single submitter achromatopsia 2
- p.Tyr181His Single submitter
- p.Tyr263Asp Single submitter inherited retinal dystrophy
- p.Tyr378Asn Single submitter
- p.Tyr573Ter Single submitter achromatopsia
- p.Tyr591Ter Single submitter achromatopsia 2
- p.Val160Ala Single submitter achromatopsia 2 ⚠
- p.Val160Gly Single submitter achromatopsia 2 ⚠
- p.Val336Phe Single submitter
- c.396-2_398dup No assertion criteria achromatopsia 2
- p.Arg131fs No assertion criteria achromatopsia 2
- p.Arg302Gly No assertion criteria achromatopsia
- p.Asn182Asp No assertion criteria achromatopsia 2
- p.Asn562fs No assertion criteria achromatopsia 2
- p.Asp128fs No assertion criteria achromatopsia 2
- p.Asp260His No assertion criteria achromatopsia 2
- p.Cys319fs No assertion criteria achromatopsia 2
- p.Gln248Ter No assertion criteria achromatopsia 2
- p.Gln425Ter No assertion criteria achromatopsia 2
- p.Glu106Lys No assertion criteria maculopathy ⚠
- p.Glu198fs No assertion criteria achromatopsia 2
- p.Glu549Ter No assertion criteria achromatopsia 2
- p.Gly489Val No assertion criteria achromatopsia 2
- p.Leu284fs No assertion criteria achromatopsia 2
- p.Leu460fs No assertion criteria achromatopsia 2
- p.Leu527Met No assertion criteria achromatopsia 2
- p.Pro271Thr No assertion criteria achromatopsia 2 ⚠
- p.Pro372Ala No assertion criteria cone-rod dystrophy
- p.Ser197Pro No assertion criteria achromatopsia 2 ⚠
- p.Ser359Phe No assertion criteria achromatopsia 2
- p.Trp335Ter No assertion criteria achromatopsia 2
- p.Tyr423Ser No assertion criteria achromatopsia 2
- p.Tyr591His No assertion criteria achromatopsia 2
- p.Val429Ala No assertion criteria achromatopsia 2
- p.Val456fs No assertion criteria achromatopsia 2
Conflicting classifications of pathogenicity 59
- c.101+1G>A Single submitter achromatopsia 2
- c.395+9C>T Single submitter achromatopsia 2
- c.566+14G>A Single submitter achromatopsia 2
- c.566+6C>T Single submitter achromatopsia 2
- c.674-1G>A Single submitter achromatopsia 2
- c.-37-1G>C Single submitter achromatopsia
- c.-383A>G Single submitter achromatopsia 2
- p.Ala158Val Single submitter Inborn genetic diseases ⚠
- p.Ala323Pro Single submitter inherited retinal dystrophy ⚠
- p.Ala621= Single submitter achromatopsia 2
- p.Ala621Thr Single submitter Inborn genetic diseases ⚠
- p.Ala71Thr Single submitter achromatopsia 2 ⚠
- p.Arg103Cys Single submitter Inborn genetic diseases ⚠
- p.Arg27His Single submitter Inborn genetic diseases ⚠
- p.Arg290His Single submitter CNGA3-related disorder ⚠
- p.Arg302Ser Single submitter cone dystrophy ⚠
- p.Arg410Leu Single submitter achromatopsia 2 ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg563Cys Single submitter achromatopsia 2 ⚠
- p.Arg661His Single submitter achromatopsia 2 ⚠
- p.Arg75= Single submitter achromatopsia 2
- p.Asn523= Single submitter achromatopsia 2
- p.Asp157Glu Single submitter achromatopsia 2 ⚠
- p.Asp507Gly Single submitter cone dystrophy ⚠
- p.Asp533His Single submitter achromatopsia 2 ⚠
- p.Asp622= Single submitter achromatopsia 2
- p.Gln118Arg Single submitter Inborn genetic diseases ⚠
- p.Gln484Pro Single submitter achromatopsia 2 ⚠
- p.Gln537fs Single submitter achromatopsia 2
- p.Glu194Lys Single submitter CNGA3-related retinopathy ⚠
- p.Glu228Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu376Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu593Lys Single submitter achromatopsia ⚠
- p.His345Arg Single submitter achromatopsia 2 ⚠
- p.Ile328Thr Single submitter achromatopsia 2 ⚠
- p.Ile571Thr Single submitter ⚠
- p.Leu496= Single submitter achromatopsia 2
- p.Leu611= Single submitter
- p.Leu80= Single submitter achromatopsia 2
- p.Lys448Arg Single submitter inherited retinal dystrophy ⚠
- p.Met406Thr Single submitter achromatopsia ⚠
- p.Met519Ile Single submitter achromatopsia 2 ⚠
- p.Met656Ile Single submitter achromatopsia 2 ⚠
- p.Pro163Gln Single submitter Inborn genetic diseases ⚠
- p.Pro271Ala Single submitter inherited retinal dystrophy ⚠
- p.Pro372= Single submitter achromatopsia 2
- p.Pro48= Single submitter achromatopsia 2
- p.Pro95Leu Single submitter achromatopsia 2 ⚠
- p.Ser355Arg Single submitter ⚠
- p.Ser37Leu Single submitter CNGA3-related retinopathy ⚠
- p.Thr147Arg Single submitter achromatopsia 2 ⚠
- p.Thr247Met Single submitter inherited retinal dystrophy ⚠
- p.Thr450Met Single submitter CNGA3-related retinopathy ⚠
- p.Thr589= Single submitter achromatopsia 2
- p.Thr66= Single submitter achromatopsia 2
- p.Val266Met Single submitter achromatopsia ⚠
- p.Val307Ile Single submitter Inborn genetic diseases ⚠
- p.Val540Ile Single submitter inherited retinal dystrophy ⚠
- p.Val669Leu Single submitter CNGA3-related retinopathy ⚠
Benign 16
- c.102-16A>G Multiple submitters achromatopsia 2
- c.215+46T>G Multiple submitters
- c.396-84G>T Multiple submitters
- c.-286C>T Multiple submitters achromatopsia 2
- p.Arg27= Multiple submitters
- p.Asn146= Multiple submitters
- p.Asp24= Multiple submitters achromatopsia 2
- p.Ser542= Multiple submitters achromatopsia 2
- c.102-20C>T Single submitter
- c.215+151T>C Single submitter achromatopsia 2
- c.450-12G>A Single submitter
- c.674-48A>C Single submitter
- c.*574C>T Single submitter achromatopsia 2
- c.*838T>C Single submitter achromatopsia 2
- p.Leu264Ile Single submitter ⚠
- p.Ser37= Single submitter
Benign/Likely benign 7
- c.215+11A>G Multiple submitters achromatopsia 2
- c.396-4G>A Multiple submitters achromatopsia 2
- p.Asp582= Multiple submitters achromatopsia 2
- p.Glu198Lys Multiple submitters achromatopsia 2
- p.Pro48Leu Multiple submitters achromatopsia 2
- p.Thr153Met Multiple submitters achromatopsia 2 ⚠
- p.Thr20Ile Multiple submitters achromatopsia 2
Likely benign 190
- c.395+10G>A Multiple submitters
- p.Asn471= Multiple submitters
- p.Gly367= Multiple submitters
- p.Ile50= Multiple submitters Inborn genetic diseases
- p.Leu136= Multiple submitters
- p.Pro163= Multiple submitters
- p.Pro592= Multiple submitters
- p.Ser209= Multiple submitters
- p.Ser282= Multiple submitters
- p.Thr153= Multiple submitters
- c.101+14_101+23dup Single submitter
- c.101+17T>C Single submitter
- c.102-16A>C Single submitter
- c.102-17_102-16inv Single submitter
- c.102-18G>A Single submitter
- c.102-20C>G Single submitter
- c.102-4C>T Single submitter
- c.215+10C>T Single submitter
- c.215+12G>C Single submitter
- c.215+46T>A Single submitter
- c.215+7G>C Single submitter
- c.216-12G>C Single submitter
- c.216-17C>T Single submitter
- c.216-4C>T Single submitter
- c.395+10G>C Single submitter
- c.395+14AAG[2] Single submitter
- c.395+19G>C Single submitter
- c.396-13T>C Single submitter
- c.396-14C>G Single submitter
- c.449+11A>T Single submitter
- c.449+16C>G Single submitter
- c.449+17C>G Single submitter
- c.449+19A>C Single submitter
- c.450-20G>A Single submitter
- c.450-8G>C Single submitter
- c.566+10del Single submitter
- c.566+11G>A Single submitter
- c.566+17G>A Single submitter
- c.566+7G>A Single submitter
- c.567-11G>T Single submitter
- c.567-12T>C Single submitter
- c.567-13A>C Single submitter
- c.567-13A>G Single submitter
- c.567-4T>G Single submitter
- c.673+15G>C Single submitter
- c.673+7G>A Single submitter
- c.674-12C>T Single submitter
- c.674-18C>T Single submitter
- c.674-7T>G Single submitter
- c.-406C>T Single submitter achromatopsia 2
- p.Ala158= Single submitter
- p.Ala35= Single submitter
- p.Ala446= Single submitter
- p.Ala528= Single submitter
- p.Ala619= Single submitter
- p.Arg131= Single submitter
- p.Arg27Cys Single submitter ⚠
- p.Arg481= Single submitter
- p.Arg618= Single submitter
- p.Arg643= Single submitter
- p.Arg75His Single submitter
- p.Arg82= Single submitter
- p.Asn398= Single submitter
- p.Asn652= Single submitter
- p.Asp157= Single submitter
- p.Asp193= Single submitter
- p.Asp211= Single submitter
- p.Asp452= Single submitter
- p.Asp462= Single submitter
- p.Asp532= Single submitter
- p.Asp543= Single submitter
- p.Asp543Asn Single submitter
- p.Asp575= Single submitter
- p.Asp609= Single submitter
- p.Asp691= Single submitter
- p.Cys578= Single submitter
- p.Gln113Arg Single submitter Inborn genetic diseases
- p.Gln118= Single submitter
- p.Gln196= Single submitter
- p.Glu487= Single submitter
- p.Glu518= Single submitter
- p.Glu53= Single submitter
- p.Glu600= Single submitter
- p.Glu627= Single submitter
- p.Glu650= Single submitter
- p.Gly31= Single submitter
- p.Gly400= Single submitter
- p.Gly49Glu Single submitter
- p.Gly557= Single submitter
- p.Gly61= Single submitter
- p.Gly620= Single submitter
- p.Gly63= Single submitter
- p.Gly634= Single submitter
- p.Gly672= Single submitter
- p.Gly673= Single submitter
- p.Gly673Arg Single submitter
- p.Gly684= Single submitter
- p.His89= Single submitter
- p.Ile159= Single submitter
- p.Ile175= Single submitter
- p.Ile313= Single submitter
- p.Ile314= Single submitter
- p.Ile420= Single submitter
- p.Ile468= Single submitter
- p.Ile568= Single submitter
- p.Ile70= Single submitter
- p.Leu16= Single submitter
- p.Leu177= Single submitter
- p.Leu200= Single submitter
- p.Leu227= Single submitter
- p.Leu239= Single submitter
- p.Leu251= Single submitter
- p.Leu261= Single submitter
- p.Leu278= Single submitter
- p.Leu279= Single submitter
- p.Leu284= Single submitter
- p.Leu361= Single submitter
- p.Leu386= Single submitter
- p.Leu444= Single submitter
- p.Leu491= Single submitter
- p.Leu584= Single submitter
- p.Leu588= Single submitter
- p.Leu598= Single submitter
- p.Leu616= Single submitter
- p.Leu633= Single submitter
- p.Leu647= Single submitter
- p.Leu662= Single submitter
- p.Lys151= Single submitter
- p.Lys326= Single submitter
- p.Lys449= Single submitter achromatopsia 2
- p.Lys454= Single submitter
- p.Lys479= Single submitter
- p.Lys517= Single submitter
- p.Lys692= Single submitter
- p.Phe285= Single submitter
- p.Phe426= Single submitter
- p.Phe538= Single submitter
- p.Phe547= Single submitter
- p.Pro126= Single submitter
- p.Pro135= Single submitter
- p.Pro370= Single submitter
- p.Pro371= Single submitter
- p.Pro683= Single submitter
- p.Pro95= Single submitter
- p.Ser112= Single submitter
- p.Ser12= Single submitter
- p.Ser165= Single submitter
- p.Ser197= Single submitter
- p.Ser209Leu Single submitter
- p.Ser234= Single submitter
- p.Ser334= Single submitter
- p.Ser404= Single submitter
- p.Ser43= Single submitter
- p.Ser459= Single submitter
- p.Ser60= Single submitter
- p.Ser663= Single submitter
- p.Ser74= Single submitter
- p.Ser9= Single submitter
- p.Thr147= Single submitter
- p.Thr173= Single submitter
- p.Thr245= Single submitter
- p.Thr245Met Single submitter ⚠
- p.Thr247= Single submitter
- p.Thr259= Single submitter
- p.Thr360= Single submitter
- p.Thr369= Single submitter
- p.Thr435= Single submitter
- p.Thr435Met Single submitter ⚠
- p.Thr450= Single submitter
- p.Thr476= Single submitter
- p.Thr536= Single submitter
- p.Thr565= Single submitter
- p.Tyr199= Single submitter
- p.Tyr309= Single submitter
- p.Tyr352= Single submitter
- p.Tyr423= Single submitter
- p.Val161= Single submitter
- p.Val212= Single submitter
- p.Val215= Single submitter
- p.Val218= Single submitter
- p.Val257= Single submitter
- p.Val307= Single submitter
- p.Val336= Single submitter
- p.Val373= Single submitter
- p.Val382= Single submitter
- p.Val383Ile Single submitter Inborn genetic diseases
- p.Val456= Single submitter
- p.Val630= Single submitter
- p.Val88= Single submitter
- p.Ala645= No assertion criteria CNGA3-related disorder
Uncertain significance 297
- p.Ala28Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala488Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala597Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala621Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala653Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg129Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg170Cys Multiple submitters ⚠
- p.Arg23Gln Multiple submitters achromatopsia 2 ⚠
- p.Arg290Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg350Gly Multiple submitters inherited retinal dystrophy ⚠
- p.Arg499Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg603Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg646Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg75Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg81His Multiple submitters Inborn genetic diseases ⚠
- p.Asp193Asn Multiple submitters ⚠
- p.Asp532His Multiple submitters Inborn genetic diseases ⚠
- p.Asp583Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp613Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu376Asp Multiple submitters ⚠
- p.Gly684Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ile303Phe Multiple submitters inherited retinal dystrophy ⚠
- p.Ile417Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile468Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile555Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu261Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu311Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu490Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys108Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys659Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met201Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met52Val Multiple submitters achromatopsia 2 ⚠
- p.Phe275Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro178Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser43Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser560Leu Multiple submitters achromatopsia 2 ⚠
- p.Thr369Asn Multiple submitters ⚠
- p.Thr501Pro Multiple submitters ⚠
- p.Thr687Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr168His Multiple submitters Inborn genetic diseases ⚠
- p.Val160Met Multiple submitters achromatopsia 2 ⚠
- p.Val383Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val495Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val539Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val539Met Multiple submitters achromatopsia 2 ⚠
- c.101+2dup Single submitter
- c.102-3T>C Single submitter
- c.215+3A>G Single submitter
- c.215+6T>A Single submitter
- c.215+6T>C Single submitter
- c.395+4A>G Single submitter
- c.396-4dup Single submitter
- c.396-4G>C Single submitter
- c.449+13A>G Single submitter achromatopsia 2
- c.567-13_567-12delinsCA Single submitter
- c.673+5G>T Single submitter
- c.674-1G>C Single submitter
- c.-271G>A Single submitter achromatopsia 2
- c.-326G>A Single submitter achromatopsia 2
- c.-381A>G Single submitter achromatopsia 2
- c.-388C>G Single submitter achromatopsia 2
- c.-43G>A Single submitter achromatopsia 2
- c.-65G>C Single submitter achromatopsia 2
- c.*1050A>G Single submitter achromatopsia 2
- c.*1085G>A Single submitter achromatopsia 2
- c.*1240C>T Single submitter achromatopsia 2
- c.*1330A>G Single submitter achromatopsia 2
- c.*166G>A Single submitter achromatopsia 2
- c.*178C>T Single submitter achromatopsia 2
- c.*269A>G Single submitter achromatopsia 2
- c.*283G>A Single submitter achromatopsia 2
- c.*316A>G Single submitter achromatopsia 2
- c.*418T>C Single submitter achromatopsia 2
- c.*469A>G Single submitter achromatopsia 2
- c.*470C>T Single submitter achromatopsia 2
- c.*516T>C Single submitter achromatopsia 2
- c.*60G>A Single submitter achromatopsia 2
- c.*751T>C Single submitter achromatopsia 2
- c.*765G>A Single submitter achromatopsia 2
- c.*894C>T Single submitter achromatopsia 2
- c.*904C>T Single submitter achromatopsia 2
- p.Ala105Val Single submitter ⚠
- p.Ala133Pro Single submitter Inborn genetic diseases ⚠
- p.Ala137Gly Single submitter Inborn genetic diseases ⚠
- p.Ala137Thr Single submitter ⚠
- p.Ala158Glu Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala28Pro Single submitter ⚠
- p.Ala2Pro Single submitter ⚠
- p.Ala408Thr Single submitter Inborn genetic diseases ⚠
- p.Ala408Val Single submitter ⚠
- p.Ala446Thr Single submitter ⚠
- p.Ala488Thr Single submitter ⚠
- p.Ala51Thr Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Ala619Gly Single submitter Inborn genetic diseases ⚠
- p.Ala619Val Single submitter ⚠
- p.Ala621Glu Single submitter ⚠
- p.Ala71Pro Single submitter Inborn genetic diseases ⚠
- p.Ala71Val Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg101Cys Single submitter ⚠
- p.Arg101Gly Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg103His Single submitter ⚠
- p.Arg103Leu Single submitter ⚠
- p.Arg170His Single submitter ⚠
- p.Arg170Leu Single submitter ⚠
- p.Arg189Met Single submitter ⚠
- p.Arg221Gln Single submitter ⚠
- p.Arg221Gly Single submitter ⚠
- p.Arg27_Asn30del Single submitter
- p.Arg27Gly Single submitter ⚠
- p.Arg27Ser Single submitter Inborn genetic diseases ⚠
- p.Arg34= Single submitter
- p.Arg347His Single submitter ⚠
- p.Arg410Gln Single submitter ⚠
- p.Arg439Gln Single submitter ⚠
- p.Arg439Leu Single submitter ⚠
- p.Arg481Cys Single submitter ⚠
- p.Arg481His Single submitter achromatopsia 2 ⚠
- p.Arg481Leu Single submitter ⚠
- p.Arg481Ser Single submitter ⚠
- p.Arg643Ser Single submitter ⚠
- p.Arg646His Single submitter ⚠
- p.Arg81Cys Single submitter ⚠
- p.Arg81Leu Single submitter ⚠
- p.Arg82Lys Single submitter ⚠
- p.Asn26Ser Single submitter ⚠
- p.Asn299Ser Single submitter ⚠
- p.Asn30Lys Single submitter ⚠
- p.Asn317Lys Single submitter CNGA3-related retinopathy ⚠
- p.Asn447Lys Single submitter Inborn genetic diseases ⚠
- p.Asn471Ser Single submitter inherited retinal dystrophy ⚠
- p.Asn652Lys Single submitter ⚠
- p.Asp100His Single submitter Inborn genetic diseases ⚠
- p.Asp211Val Single submitter ⚠
- p.Asp217His Single submitter inherited retinal dystrophy ⚠
- p.Asp418Glu Single submitter achromatopsia 2 ⚠
- p.Asp432_Leu433del Single submitter
- p.Asp442Phe Single submitter
- p.Asp452Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp507Val Single submitter ⚠
- p.Asp514Glu Single submitter ⚠
- p.Asp532Val Single submitter ⚠
- p.Asp543Glu Single submitter Inborn genetic diseases ⚠
- p.Asp575Glu Single submitter ⚠
- p.Asp575His Single submitter ⚠
- p.Asp583Tyr Single submitter ⚠
- p.Asp685Gly Single submitter ⚠
- p.Cys486Ser Single submitter ⚠
- p.Gln47His Single submitter ⚠
- p.Gln694Arg Single submitter ⚠
- p.Gln694fs Single submitter
- p.Glu125Lys Single submitter achromatopsia 2 ⚠
- p.Glu150= Single submitter
- p.Glu29Asp Single submitter ⚠
- p.Glu412Asp Single submitter ⚠
- p.Glu41Gly Single submitter ⚠
- p.Glu524Lys Single submitter ⚠
- p.Glu53Gln Single submitter ⚠
- p.Glu549Asp Single submitter ⚠
- p.Glu599Lys Single submitter ⚠
- p.Glu615Asp Single submitter achromatopsia 2 ⚠
- p.Glu650Ala Single submitter inherited retinal dystrophy ⚠
- p.Glu681Ala Single submitter Inborn genetic diseases ⚠
- p.Glu681Lys Single submitter ⚠
- p.Glu690Gly Single submitter Inborn genetic diseases ⚠
- p.Gly225Ser Single submitter ⚠
- p.Gly49Trp Single submitter ⚠
- p.Gly602Val Single submitter ⚠
- p.Gly61Arg Single submitter ⚠
- p.Gly63Ser Single submitter ⚠
- p.Gly672Val Single submitter ⚠
- p.Gly67Ser Single submitter ⚠
- p.Gly684Arg Single submitter achromatopsia 2 ⚠
- p.Gly69Arg Single submitter ⚠
- p.Gly94Ala Single submitter ⚠
- p.His10Tyr Single submitter Inborn genetic diseases ⚠
- p.His242Asp Single submitter ⚠
- p.His87Gln Single submitter ⚠
- p.His89Arg Single submitter ⚠
- p.Ile175Thr Single submitter ⚠
- p.Ile303Thr Single submitter ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile320Thr Single submitter ⚠
- p.Ile328Leu Single submitter ⚠
- p.Ile395Val Single submitter ⚠
- p.Ile509Val Single submitter ⚠
- p.Ile50Met Single submitter ⚠
- p.Ile50Val Single submitter ⚠
- p.Ile521Val Single submitter ⚠
- p.Ile70Thr Single submitter ⚠
- p.Leu177Gln Single submitter ⚠
- p.Leu185Val Single submitter achromatopsia 2 ⚠
- p.Leu195Pro Single submitter achromatopsia 2 ⚠
- p.Leu206Pro Single submitter ⚠
- p.Leu213Met Single submitter Inborn genetic diseases ⚠
- p.Leu254Phe Single submitter Inborn genetic diseases ⚠
- p.Leu256Pro Single submitter ⚠
- p.Leu25Pro Single submitter ⚠
- p.Leu311Pro Single submitter ⚠
- p.Leu363Phe Single submitter ⚠
- p.Leu444Pro Single submitter ⚠
- p.Leu46Pro Single submitter ⚠
- p.Leu553Gln Single submitter achromatopsia 2 ⚠
- p.Leu576Arg Single submitter ⚠
- p.Leu637Pro Single submitter ⚠
- p.Leu647Phe Single submitter ⚠
- p.Lys152Arg Single submitter ⚠
- p.Lys17Arg Single submitter ⚠
- p.Lys19Asn Single submitter ⚠
- p.Lys244Arg Single submitter ⚠
- p.Lys428Glu Single submitter ⚠
- p.Lys497Gln Single submitter Inborn genetic diseases ⚠
- p.Lys511Gln Single submitter Inborn genetic diseases ⚠
- p.Lys512Asn Single submitter Inborn genetic diseases ⚠
- p.Lys512del Single submitter
- p.Lys595Arg Single submitter achromatopsia 2 ⚠
- p.Lys595Glu Single submitter ⚠
- p.Lys624Arg Single submitter ⚠
- p.Lys624Glu Single submitter Inborn genetic diseases ⚠
- p.Lys670Asn Single submitter ⚠
- p.Lys692Gln Single submitter ⚠
- p.Met402Ile Single submitter ⚠
- p.Met402Leu Single submitter Inborn genetic diseases ⚠
- p.Met402Val Single submitter ⚠
- p.Met52Thr Single submitter Inborn genetic diseases ⚠
- p.Met585Leu Single submitter Inborn genetic diseases ⚠
- p.Met607Thr Single submitter Inborn genetic diseases ⚠
- p.Met607Val Single submitter ⚠
- p.Met658Ile Single submitter ⚠
- p.Phe180Leu Single submitter ⚠
- p.Phe192Cys Single submitter ⚠
- p.Phe192Ser Single submitter ⚠
- p.Phe281Ser Single submitter ⚠
- p.Phe380Leu Single submitter ⚠
- p.Pro135Thr Single submitter CNGA3-related retinopathy ⚠
- p.Pro343Ser Single submitter ⚠
- p.Pro370Leu Single submitter Inborn genetic diseases ⚠
- p.Pro371Leu Single submitter ⚠
- p.Pro676Ser Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser111Cys Single submitter Inborn genetic diseases ⚠
- p.Ser111Tyr Single submitter achromatopsia ⚠
- p.Ser112Cys Single submitter ⚠
- p.Ser115Thr Single submitter Inborn genetic diseases ⚠
- p.Ser33Arg Single submitter ⚠
- p.Ser39del Single submitter
- p.Ser419Phe Single submitter ⚠
- p.Ser504Gly Single submitter Inborn genetic diseases ⚠
- p.Ser551_Ile552delinsArgLeu Single submitter achromatopsia 2
- p.Ser558Thr Single submitter ⚠
- p.Ser574Pro Single submitter retinal disorder ⚠
- p.Ser667Arg Single submitter ⚠
- p.Ser74Trp Single submitter ⚠
- p.Thr141Ala Single submitter Inborn genetic diseases ⚠
- p.Thr259Pro Single submitter ⚠
- p.Thr295Ile Single submitter achromatopsia 2 ⚠
- p.Thr332Arg Single submitter Inborn genetic diseases ⚠
- p.Thr364Asn Single submitter inherited retinal dystrophy ⚠
- p.Thr369Ile Single submitter ⚠
- p.Thr42Ala Single submitter ⚠
- p.Thr476Met Single submitter ⚠
- p.Thr639Asn Single submitter Inborn genetic diseases ⚠
- p.Thr642Asn Single submitter ⚠
- p.Trp134Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr199His Single submitter ⚠
- p.Tyr214His Single submitter ⚠
- p.Tyr270His Single submitter ⚠
- p.Tyr321His Single submitter ⚠
- p.Tyr337His Single submitter Inborn genetic diseases ⚠
- p.Tyr354Cys Single submitter achromatopsia 2 ⚠
- p.Tyr378= Single submitter achromatopsia 2
- p.Tyr423His Single submitter Inborn genetic diseases ⚠
- p.Val179Phe Single submitter ⚠
- p.Val220Ala Single submitter ⚠
- p.Val381Glu Single submitter ⚠
- p.Val437Leu Single submitter Inborn genetic diseases ⚠
- p.Val451Glu Single submitter ⚠
- p.Val456Gly Single submitter ⚠
- p.Val472Leu Single submitter ⚠
- p.Val495Met Single submitter ⚠
- p.Val502Glu Single submitter Inborn genetic diseases ⚠
- p.Val529Leu Single submitter ⚠
- p.Val630Met Single submitter ⚠
- p.Val669Ala Single submitter ⚠
- p.Val682Phe Single submitter ⚠
- c.450-15T>G No assertion criteria achromatopsia 2
- p.Ala619Thr No assertion criteria inherited retinal dystrophy ⚠
- p.Arg189Lys No assertion criteria achromatopsia 2 ⚠
- p.Asp22= No assertion criteria achromatopsia 2
- p.Gln248Arg No assertion criteria achromatopsia 2 ⚠
- p.Met1Leu No assertion criteria achromatopsia 2
- p.Pro258Ala No assertion criteria achromatopsia 2 ⚠
- p.Val630Ala No assertion criteria achromatopsia 2 ⚠