GUCY2D — 1683 ClinVar variants

All ClinVar germline GUCY2D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 669 flagged for review →

133 Pathogenic · 22 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 53 Conflicting · 29 Benign · 12 Benign/Likely benign · 616 Likely benign · 721 Uncertain significance

Full GUCY2D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 669

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

GUCY2D p.Arg313Cys Likely pathogenic Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Arg588Trp Pathogenic Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Arg666Trp Likely pathogenic Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Asp452Asn Likely pathogenic Single submitter
Leber congenital amaurosis 1
GUCY2D p.Ala914Thr Likely pathogenic No assertion criteria
inherited retinal dystrophy

Predictors agree, ClinVar conflicts 28

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GUCY2D p.Ala113Thr Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Ala410Val Conflicting Single submitter
Leber congenital amaurosis 1
GUCY2D p.Ala950Val Conflicting Single submitter
GUCY2D-related disorders
GUCY2D p.Arg365Trp Conflicting Single submitter
choroidal dystrophy, central areolar, 1
GUCY2D p.Arg383Trp Conflicting Single submitter
Inborn genetic diseases
GUCY2D p.Arg490Gln Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg722Trp Conflicting Single submitter
Inborn genetic diseases
GUCY2D p.Asp279Asn Conflicting Single submitter
Leber congenital amaurosis 1
GUCY2D p.Cys133Arg Conflicting Single submitter
Leber congenital amaurosis 1
GUCY2D p.Gly532Ala Conflicting Single submitter
Inborn genetic diseases
GUCY2D p.Gly653Glu Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu176Pro Conflicting Single submitter
GUCY2D p.Leu513Phe Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu831Pro Conflicting Single submitter
inherited retinal dystrophy
GUCY2D p.Lys695Arg Conflicting Single submitter
Inborn genetic diseases
GUCY2D p.Phe730Val Conflicting Single submitter
GUCY2D-related disorders
GUCY2D p.Pro127Leu Conflicting Single submitter
GUCY2D-related disorders
GUCY2D p.Pro163Leu Conflicting Single submitter
Inborn genetic diseases
GUCY2D p.Pro73Gln Conflicting Single submitter
GUCY2D-related disorders
GUCY2D p.Pro938Arg Conflicting Single submitter
Leber congenital amaurosis 1
GUCY2D p.Ser1007Leu Conflicting Single submitter
Leber congenital amaurosis 1
GUCY2D p.Ser248Leu Conflicting Single submitter
Leber congenital amaurosis 1
GUCY2D p.Thr519Ile Conflicting Single submitter
choroidal dystrophy, central areolar, 1
GUCY2D p.Thr839Met Conflicting Single submitter
GUCY2D-related disorders
GUCY2D p.Trp708Arg Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Val58Gly Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Val662Met Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Val902Ala Conflicting Single submitter
inherited retinal dystrophy

Predictors lean, ClinVar uncertain 483

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 483

GUCY2D p.Ala328Pro Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Arg540Cys Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Asp558Asn Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Glu333Lys Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Glu874Lys Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Gly727Ser Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.His687Tyr Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Pro500Leu Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Ala1050Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ala131Glu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala174Thr Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala178Val Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Ala296Asp Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Ala358Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ala362Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ala385Thr Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala385Val Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala49Ser Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala572Pro Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Ala616Val Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ala63Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ala663Thr Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala703Val Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala930Thr Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ala99Val Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg1060His Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg106Leu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg199Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg208Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg231Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg31Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg331Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg35Gly Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg380His Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg383Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg383Leu Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg424Trp Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg433Gly Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg521Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg528Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg534His Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg540His Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg540Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg574Cys Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg602Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg602Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg634Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg655Lys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg670Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg6Cys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg721His Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg722Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg72Leu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg761Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg812Gly Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg822Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg822Pro Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg836Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg966Gly Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg974His Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Asn809Ser Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Asp384Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Asp716Asn Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Asp803Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Cys17Arg Uncertain significance Multiple submitters
night blindness, congenital stationary, type1i
GUCY2D p.Gln341Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Glu1089Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Glu1089Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Glu141Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Glu142Lys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Glu398Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Glu586Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Glu590Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Glu754Lys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Glu832Lys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Glu97Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Gly109Asp Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Gly151Asp Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Gly151Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly425Ala Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Gly469Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Gly518Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly518Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly526Glu Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly603Glu Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly613Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly688Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Gly811Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly93Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.His516Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.His570Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.His967Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Ile573Val Uncertain significance Multiple submitters
inherited retinal dystrophy
GUCY2D p.Ile735Thr Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ile915Val Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Ile977Leu Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Leu268Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Leu311Ile Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Leu33Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Leu478Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Leu587Val Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Leu610Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Leu610Val Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Leu725Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Lys522Glu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Met419Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Met895Val Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro1074Ser Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro12Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro14Ala Uncertain significance Multiple submitters
choroidal dystrophy, central areolar, 1
GUCY2D p.Pro190Arg Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro220Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro289Leu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro400Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro443Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro447Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro47Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro698Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro73Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Pro858Thr Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro859Leu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro870Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ser1077Gly Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ser286Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ser549Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Ser935Leu Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Thr160Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Thr166Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Thr216Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Thr407Met Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Thr417Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Thr579Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Thr623Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Thr814Met Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Thr839Arg Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Thr849Ile Uncertain significance Multiple submitters
GUCY2D p.Thr867Lys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Tyr827Cys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Val114Met Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Val249Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Val473Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Val474Ile Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Val497Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Val507Met Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Val618Ile Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Val679Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Val887Leu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Val933Ala Uncertain significance Multiple submitters
choroidal dystrophy, central areolar, 1
GUCY2D p.Ala1097Ser Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Ala117Val Uncertain significance Single submitter

Predictors split 153

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 153

GUCY2D p.Arg660Gln Uncertain significance Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Thr312Met Likely pathogenic Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Thr55Met Likely benign Expert panel
GUCY2D-related recessive retinopathy
GUCY2D p.Ala959Thr Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg1090Trp Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg1092Trp Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg331Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg602Trp Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg624Gln Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg666Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg742Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Arg742His Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg812Trp Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg822Trp Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Arg836Trp Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Arg851Trp Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Asp170Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Asp903Ala Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Cys787Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Glu1051Lys Uncertain significance Multiple submitters
night blindness, congenital stationary, type1i
GUCY2D p.Glu265Lys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Glu779Lys Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Gly1061Ser Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Gly1080Arg Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Gly499Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Gly686Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ile916Thr Pathogenic Multiple submitters
GUCY2D-related disorders
GUCY2D p.Leu346His Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Leu38Phe Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Leu41Phe Uncertain significance Multiple submitters
inherited retinal dystrophy
GUCY2D p.Leu468Pro Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Leu491Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Lys813Asn Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Met1009Leu Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis
GUCY2D p.Met246Val Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Met968Ile Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro237His Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Pro287Leu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro345Ala Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Pro73Leu Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Pro792Leu Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Ser860Pro Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Thr1005Ile Uncertain significance Multiple submitters
cone-rod dystrophy 6
GUCY2D p.Thr161Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Thr312Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Thr312Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 1
GUCY2D p.Thr724Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Thr849Ala Likely pathogenic Multiple submitters
GUCY2D-related disorders
GUCY2D p.Val1057Met Uncertain significance Multiple submitters
Inborn genetic diseases
GUCY2D p.Ala229Ser Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Ala263Ser Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Ala385Glu Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Ala864Val Uncertain significance Single submitter
GUCY2D p.Ala946Val Conflicting Single submitter
Autosomal recessive GUCY2D-related disorders
GUCY2D p.Arg1029Cys Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg120Cys Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg183Cys Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Arg199Cys Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg302His Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Arg332Pro Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Arg380Cys Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg424Pro Uncertain significance Single submitter
GUCY2D p.Arg438Cys Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg588Gln Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg660Gly Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Arg670Trp Conflicting Single submitter
Leber congenital amaurosis
GUCY2D p.Arg761Trp Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Arg95Pro Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Asp192Gly Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Asp352His Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Asp446Asn Uncertain significance Single submitter
GUCY2D p.Asp684Glu Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Asp818Glu Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Asp903Tyr Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Asp920Glu Uncertain significance Single submitter
GUCY2D p.Cys315Ser Uncertain significance Single submitter
GUCY2D p.Cys391Arg Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Cys780Tyr Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Glu103Val Pathogenic Single submitter
Leber congenital amaurosis 1
GUCY2D p.Glu333Gln Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Glu755Lys Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Glu793Lys Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Gly1080Val Uncertain significance Single submitter
GUCY2D p.Gly209Asp Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Gly236Arg Uncertain significance Single submitter
GUCY2D p.Gly236Glu Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Gly252Ala Uncertain significance Single submitter
GUCY2D p.Gly271Ala Uncertain significance Single submitter
GUCY2D p.Gly369Asp Uncertain significance Single submitter
GUCY2D p.Gly431Ser Uncertain significance Single submitter
GUCY2D p.Gly439Trp Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Gly613Val Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Gly661Val Uncertain significance Single submitter
GUCY2D p.Gly917Cys Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Gly961Arg Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Gly961Val Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.His247Arg Uncertain significance Single submitter
Leber congenital amaurosis
GUCY2D p.His980Tyr Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Ile1086Phe Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Ile67Asn Uncertain significance Single submitter
GUCY2D p.Ile892Val Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu100Arg Uncertain significance Single submitter
GUCY2D p.Leu176Phe Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Leu251Pro Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu266Val Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu44Arg Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Leu472Pro Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Leu584Phe Uncertain significance Single submitter
GUCY2D p.Leu587Phe Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu594His Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu594Phe Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Leu596Gln Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Leu631Val Uncertain significance Single submitter
GUCY2D p.Leu719Pro Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Lys583Asn Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Lys652Asn Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Met246Thr Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Met895Ile Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Met932Val Uncertain significance Single submitter
GUCY2D p.Met968Lys Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Phe278Leu Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Phe436Leu Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Phe470Leu Uncertain significance Single submitter
GUCY2D p.Phe599Leu Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Pro1069Ser Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Pro764Ala Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Pro796Leu Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Pro88Thr Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Pro94Arg Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Ser115Pro Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Ser116Cys Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Ser116Pro Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Ser200Pro Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Ser626Cys Uncertain significance Single submitter
GUCY2D p.Ser69Cys Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Ser797Phe Uncertain significance Single submitter
GUCY2D p.Thr1002Met Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Thr310Asn Likely pathogenic Single submitter
Leber congenital amaurosis 1
GUCY2D p.Thr312Pro Conflicting Single submitter
GUCY2D-related disorders
GUCY2D p.Thr801Asn Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Trp150Ser Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Trp372Cys Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Val354Ile Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Val387Asp Conflicting Single submitter
cone-rod dystrophy 6
GUCY2D p.Val58Ile Uncertain significance Single submitter
Inborn genetic diseases
GUCY2D p.Val960Leu Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Val960Met Uncertain significance Single submitter
cone-rod dystrophy 6
GUCY2D p.Val973Met Uncertain significance Single submitter
Leber congenital amaurosis 1
GUCY2D p.Glu863Gly Uncertain significance No assertion criteria
inherited retinal dystrophy
GUCY2D p.His247Leu Uncertain significance No assertion criteria

All GUCY2D variants

Pathogenic 133

c.1956+1G>A Expert panel GUCY2D-related recessive retinopathy
c.2944+1del Expert panel GUCY2D-related recessive retinopathy
c.3224+1G>C Expert panel GUCY2D-related recessive retinopathy
c.722-1G>T Expert panel GUCY2D-related recessive retinopathy
c.-127_1566+2del Expert panel GUCY2D-related recessive retinopathy
p.Ala76fs Expert panel GUCY2D-related recessive retinopathy
p.Arg1091Ter Expert panel GUCY2D-related recessive retinopathy
p.Arg31fs Expert panel GUCY2D-related recessive retinopathy
p.Arg521Ter Expert panel GUCY2D-related recessive retinopathy
p.Arg588Trp Expert panel GUCY2D-related recessive retinopathy ⚠
p.Arg768Gln Expert panel GUCY2D-related recessive retinopathy
p.Arg768Trp Expert panel GUCY2D-related recessive retinopathy
p.Gln545Ter Expert panel GUCY2D-related recessive retinopathy
p.Gln878fs Expert panel GUCY2D-related recessive retinopathy
p.Ile243fs Expert panel GUCY2D-related recessive retinopathy
p.Lys866fs Expert panel GUCY2D-related recessive retinopathy
p.Met1Ile Expert panel GUCY2D-related recessive retinopathy
p.Phe415fs Expert panel GUCY2D-related recessive retinopathy
p.Phe565Ser Expert panel GUCY2D-related recessive retinopathy
p.Pro130Leufs Expert panel GUCY2D-related recessive retinopathy
p.Ser448Ter Expert panel GUCY2D-related recessive retinopathy
p.Tyr922Ter Expert panel GUCY2D-related recessive retinopathy
c.1957-2A>G Multiple submitters cone-rod dystrophy 6
p.Arg660Ter Multiple submitters inherited retinal dystrophy
p.Arg795Trp Multiple submitters Leber congenital amaurosis 1
p.Arg838Pro Multiple submitters cone-rod dystrophy 6
p.Asn591fs Multiple submitters cone-rod dystrophy 6
p.Gln191Ter Multiple submitters Leber congenital amaurosis 1
p.Gln585Ter Multiple submitters GUCY2D-related disorders
p.Gln826Ter Multiple submitters cone-rod dystrophy 6
p.Gln855Ter Multiple submitters cone-rod dystrophy 6
p.Gly1013Arg Multiple submitters cone-rod dystrophy 6
p.Ile916Thr Multiple submitters GUCY2D-related disorders ⚠
p.Leu59fs Multiple submitters cone-rod dystrophy 6
p.Lys232fs Multiple submitters Leber congenital amaurosis 1
p.Lys866Asn Multiple submitters cone-rod dystrophy 6
p.Met1Val Multiple submitters Leber congenital amaurosis 1
p.Pro873Arg Multiple submitters cone-rod dystrophy 6
p.Trp372Ter Multiple submitters GUCY2D-related disorders
p.Tyr283Ter Multiple submitters cone-rod dystrophy 6
p.Tyr882Ter Multiple submitters cone-rod dystrophy 6
c.2113+1G>A Single submitter Leber congenital amaurosis 1
c.2770-2A>G Single submitter cone-rod dystrophy 6
c.2943_2944+7del Single submitter Leber congenital amaurosis 1
c.2945-2A>C Single submitter cone-rod dystrophy 6
c.3139-1G>C Single submitter
p.Ala117fs Single submitter Leber congenital amaurosis 1
p.Ala162fs Single submitter cone-rod dystrophy 6
p.Ala189fs Single submitter cone-rod dystrophy 6
p.Ala49fs Single submitter cone-rod dystrophy 6
p.Ala609fs Single submitter cone-rod dystrophy 6
p.Ala710Val Single submitter cone-rod dystrophy 6
p.Arg1040fs Single submitter cone-rod dystrophy 6
p.Arg1040Ter Single submitter cone-rod dystrophy 6
p.Arg528Ter Single submitter cone-rod dystrophy 6
p.Arg6fs Single submitter Leber congenital amaurosis 1
p.Arg7Ter Single submitter Leber congenital amaurosis 1
p.Arg838Gly Single submitter Leber congenital amaurosis 1
p.Asn454fs Single submitter cone-rod dystrophy 6
p.Asp337fs Single submitter cone-rod dystrophy 6
p.Asp384fs Single submitter cone-rod dystrophy 6
p.Asp850fs Single submitter cone-rod dystrophy 6
p.Cys105Ter Single submitter Leber congenital amaurosis 1
p.Cys17Ter Single submitter Leber congenital amaurosis 1
p.Cys457Ter Single submitter Leber congenital amaurosis 1
p.Gln525Ter Single submitter Leber congenital amaurosis 1
p.Gln694Ter Single submitter Leber congenital amaurosis 1
p.Gln737Ter Single submitter cone-rod dystrophy 6
p.Gln758Ter Single submitter Leber congenital amaurosis 1
p.Gln775Ter Single submitter cone-rod dystrophy 6
p.Gln878Ter Single submitter cone-rod dystrophy 6
p.Glu103Val Single submitter Leber congenital amaurosis 1 ⚠
p.Glu261fs Single submitter cone-rod dystrophy 6
p.Glu363fs Single submitter cone-rod dystrophy 6
p.Glu793fs Single submitter Leber congenital amaurosis 1
p.Glu837fs Single submitter Leber congenital amaurosis 1
p.Gly1013Glu Single submitter Leber congenital amaurosis 1
p.Gly460fs Single submitter Leber congenital amaurosis 1
p.His314fs Single submitter cone-rod dystrophy 6
p.His800fs Single submitter cone-rod dystrophy 6
p.Leu1022Ter Single submitter cone-rod dystrophy 6
p.Leu309fs Single submitter cone-rod dystrophy 6
p.Leu478fs Single submitter Leber congenital amaurosis 1
p.Leu594fs Single submitter cone-rod dystrophy 6
p.Leu691fs Single submitter choroidal dystrophy, central areolar, 1
p.Leu911_Phe912insTer Single submitter Leber congenital amaurosis 1
p.Leu911fs Single submitter cone-rod dystrophy 6
p.Met1009Lys Single submitter Congenital blindness
p.Phe999fs Single submitter cone-rod dystrophy 6
p.Pro287fs Single submitter Leber congenital amaurosis 1
p.Pro575fs Single submitter Leber congenital amaurosis 1
p.Pro765fs Single submitter cone-rod dystrophy 6
p.Ser374fs Single submitter Leber congenital amaurosis 1
p.Ser762fs Single submitter Leber congenital amaurosis 1
p.Ser893fs Single submitter cone-rod dystrophy 6
p.Ser958fs Single submitter cone-rod dystrophy 6
p.Trp194Ter Single submitter Leber congenital amaurosis 1
p.Trp22Ter Single submitter Leber congenital amaurosis 1
p.Trp62Ter Single submitter cone-rod dystrophy 6
p.Tyr1035Ter Single submitter cone-rod dystrophy 6
p.Tyr595fs Single submitter cone-rod dystrophy 6
p.Tyr996Ter Single submitter Leber congenital amaurosis 1
p.Val1025fs Single submitter cone-rod dystrophy 6
p.Val148fs Single submitter cone-rod dystrophy 6
p.Val973fs Single submitter Leber congenital amaurosis 1
c.1378+1G>A No assertion criteria Leber congenital amaurosis 1
c.1566+2T>C No assertion criteria Leber congenital amaurosis 1
c.1957-1G>T No assertion criteria Leber congenital amaurosis 1
c.2114-27_2263+18del No assertion criteria Leber congenital amaurosis 1
c.2263+2T>C No assertion criteria Leber congenital amaurosis 1
c.2413-1G>C No assertion criteria Leber congenital amaurosis 1
c.2577-2A>C No assertion criteria Leber congenital amaurosis 1
c.2770-1G>C No assertion criteria Leber congenital amaurosis 1
c.2944+1G>T No assertion criteria inherited retinal dystrophy
p.Ala168fs No assertion criteria Leber congenital amaurosis 1
p.Ala726_Met736delinsVal No assertion criteria Leber congenital amaurosis 1
p.Arg208fs No assertion criteria Leber congenital amaurosis 1
p.Arg795Pro No assertion criteria inherited retinal dystrophy
p.Arg83Cys No assertion criteria night blindness, congenital stationary, type1i
p.Asp1071fs No assertion criteria Early-onset retinal dystrophy
p.Gln329Ter No assertion criteria inherited retinal dystrophy
p.Glu333Ter No assertion criteria Leber congenital amaurosis 1
p.Gly60fs No assertion criteria Leber congenital amaurosis 1
p.His1079fs No assertion criteria Early-onset retinal dystrophy
p.Ile1027fs No assertion criteria Leber congenital amaurosis 1
p.Ile949Thr No assertion criteria cone-rod dystrophy 6
p.Leu911Phe No assertion criteria night blindness, congenital stationary, type1i
p.Met1Lys No assertion criteria Leber congenital amaurosis 1
p.Pro1074fs No assertion criteria Leber congenital amaurosis 1
p.Thr511fs No assertion criteria Leber congenital amaurosis 1
p.Trp181Ter No assertion criteria Leber congenital amaurosis 1
p.Trp788Ter No assertion criteria inherited retinal dystrophy
p.Tyr258Ter No assertion criteria inherited retinal dystrophy

Pathogenic/Likely pathogenic 22

c.1566+1G>A Multiple submitters cone-rod dystrophy 6
c.1567-1G>C Multiple submitters cone-rod dystrophy 6
c.2576+1G>A Multiple submitters GUCY2D-related disorders
p.Arg838Cys Multiple submitters GUCY2D-related disorders
p.Arg838His Multiple submitters GUCY2D-related disorders
p.Arg838Ser Multiple submitters GUCY2D-related disorders
p.Asp728Asn Multiple submitters GUCY2D-related disorders
p.Cys105Tyr Multiple submitters GUCY2D-related disorders
p.Cys984Ter Multiple submitters Leber congenital amaurosis 1
p.Glu254Ter Multiple submitters cone-rod dystrophy 6
p.Glu754Ter Multiple submitters Leber congenital amaurosis 1
p.Glu779Ter Multiple submitters GUCY2D-related disorders
p.Glu841Ter Multiple submitters GUCY2D retinopathy
p.His305fs Multiple submitters Leber congenital amaurosis 1
p.His967fs Multiple submitters GUCY2D-related disorders
p.Leu276fs Multiple submitters Leber congenital amaurosis 1
p.Leu954Pro Multiple submitters Leber congenital amaurosis
p.Met1009Leu Multiple submitters Leber congenital amaurosis ⚠
p.Met1fs Multiple submitters Leber congenital amaurosis 1
p.Phe883fs Multiple submitters Leber congenital amaurosis 1
p.Pro764fs Multiple submitters cone-rod dystrophy 6
p.Trp150Ter Multiple submitters Leber congenital amaurosis 1

Likely pathogenic 97

c.3224+3G>T Expert panel GUCY2D-related recessive retinopathy
p.Ala946Thr Expert panel GUCY2D-related recessive retinopathy
p.Arg28fs Expert panel GUCY2D-related recessive retinopathy
p.Arg313Cys Expert panel GUCY2D-related recessive retinopathy ⚠
p.Arg666Trp Expert panel GUCY2D-related recessive retinopathy ⚠
p.Arg795Gln Expert panel GUCY2D-related recessive retinopathy
p.Arg976Leu Expert panel GUCY2D-related recessive retinopathy
p.Arg995Trp Expert panel GUCY2D-related recessive retinopathy
p.Glu103Lys Expert panel GUCY2D-related recessive retinopathy
p.His1019Pro Expert panel GUCY2D-related recessive retinopathy
p.His945Tyr Expert panel GUCY2D-related recessive retinopathy
p.Leu1028_Arg1029insIleLeu Expert panel GUCY2D-related recessive retinopathy
p.Pro711Leu Expert panel GUCY2D-related recessive retinopathy
p.Ser1007Ter Expert panel GUCY2D-related recessive retinopathy
p.Ser248Trp Expert panel GUCY2D-related recessive retinopathy
p.Thr280Arg Expert panel GUCY2D-related recessive retinopathy
p.Thr312Met Expert panel GUCY2D-related recessive retinopathy ⚠
p.Tyr351Cys Expert panel GUCY2D-related recessive retinopathy
p.Tyr922Cys Expert panel GUCY2D-related recessive retinopathy
p.Val242Gly Expert panel GUCY2D-related recessive retinopathy
p.Glu738del Multiple submitters Leber congenital amaurosis 1
p.Thr849Ala Multiple submitters GUCY2D-related disorders ⚠
c.1026+2T>C Single submitter Leber congenital amaurosis 1
c.1378+1G>T Single submitter Leber congenital amaurosis 1
c.1749+1G>A Single submitter Leber congenital amaurosis 1
c.1750-12_1752del Single submitter cone-rod dystrophy 6
c.1750-1G>A Single submitter Leber congenital amaurosis 1
c.1956+2T>A Single submitter Leber congenital amaurosis 1
c.2263+1G>A Single submitter cone-rod dystrophy 6
c.2263+1G>C Single submitter Leber congenital amaurosis
c.2264-1G>A Single submitter Leber congenital amaurosis 1
c.2412+2T>C Single submitter Leber congenital amaurosis 1
c.2413-2A>C Single submitter
c.2577-2A>G Single submitter Leber congenital amaurosis 1
c.2769+1G>A Single submitter cone-rod dystrophy 6
c.2770-34_2925del Single submitter cone-rod dystrophy 6
p.Ala604fs Single submitter
p.Arg944fs Single submitter GUCY2D-related disorders
p.Arg995Gln Single submitter Leber congenital amaurosis
p.Asp452Asn Single submitter Leber congenital amaurosis 1 ⚠
p.Gln191fs Single submitter Leber congenital amaurosis 1
p.Gln525fs Single submitter inherited retinal dystrophy
p.Glu228Ter Single submitter GUCY2D-related disorders
p.Glu712Val Single submitter Leber congenital amaurosis 1
p.Glu948Ter Single submitter night blindness, congenital stationary, type1i
p.Gly464fs Single submitter Leber congenital amaurosis 1
p.Gly542fs Single submitter Leber congenital amaurosis 1
p.Gly727Asp Single submitter Autosomal recessive optic atrophy
p.Gly978Ser Single submitter GUCY2D-related disorders
p.His658Tyr Single submitter cone-rod dystrophy 6
p.His664Asn Single submitter GUCY2D-related disorders
p.His664Pro Single submitter Leber congenital amaurosis
p.Leu139Pro Single submitter
p.Leu338fs Single submitter Leber congenital amaurosis 1
p.Leu404Pro Single submitter retinal disorder
p.Leu468fs Single submitter Leber congenital amaurosis 1
p.Leu646Pro Single submitter Leber congenital amaurosis 1
p.Leu842Pro Single submitter GUCY2D-related disorders
p.Lys846Asn Single submitter GUCY2D-related disorders
p.Met1Thr Single submitter inherited retinal dystrophy
p.Phe347fs Single submitter GUCY2D-related disorders
p.Phe482fs Single submitter GUCY2D-related disorders
p.Pro24fs Single submitter inherited retinal dystrophy
p.Ser448fs Single submitter Leber congenital amaurosis 1
p.Ser669Ter Single submitter Leber congenital amaurosis 1
p.Thr1043fs Single submitter Leber congenital amaurosis 1
p.Thr310Asn Single submitter Leber congenital amaurosis 1 ⚠
p.Thr839fs Single submitter Leber congenital amaurosis 1
p.Trp640Arg Single submitter Leber congenital amaurosis
p.Tyr827Ser Single submitter inherited retinal dystrophy
p.Tyr882Asn Single submitter GUCY2D-related disorders
p.Val187Gly Single submitter GUCY2D-related disorders
p.Val902Met Single submitter GUCY2D-related disorders
c.3043+5G>A No assertion criteria Leber congenital amaurosis 1
p.Ala226fs No assertion criteria Leber congenital amaurosis 1
p.Ala914Thr No assertion criteria inherited retinal dystrophy ⚠
p.Ala934Pro No assertion criteria Leber congenital amaurosis 1
p.Ala946Ser No assertion criteria Leber congenital amaurosis 1
p.Ala950Thr No assertion criteria Leber congenital amaurosis 1
p.Arg1059Ter No assertion criteria inherited retinal dystrophy
p.Cys780Arg No assertion criteria Leber congenital amaurosis 1
p.Glu841Gly No assertion criteria inherited retinal dystrophy
p.Glu841Lys No assertion criteria maculopathy
p.Gly1034fs No assertion criteria Leber congenital amaurosis
p.Gly18_Leu33dup No assertion criteria Leber congenital amaurosis 1
p.Gly928Ala No assertion criteria Leber congenital amaurosis 1
p.His980Leu No assertion criteria Leber congenital amaurosis 1 ⚠
p.Leu648Pro No assertion criteria Leber congenital amaurosis 1
p.Leu881Pro No assertion criteria inherited retinal dystrophy
p.Phe642Val No assertion criteria Leber congenital amaurosis 1
p.Phe876Ser No assertion criteria Leber congenital amaurosis 1
p.Pro745fs No assertion criteria Leber congenital amaurosis
p.Ser958Arg No assertion criteria Leber congenital amaurosis 1
p.Trp1055Gly No assertion criteria Leber congenital amaurosis 1
p.Tyr827Phe No assertion criteria inherited retinal dystrophy
p.Val887Gly No assertion criteria Leber congenital amaurosis 1
p.Val902Leu No assertion criteria cone-rod dystrophy

Conflicting classifications of pathogenicity 53

c.1750-7C>G Single submitter cone-rod dystrophy 6
c.2770-9_2770-7del Single submitter Leber congenital amaurosis 1
c.3139-6C>A Single submitter Leber congenital amaurosis 1
p.Ala113Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala307= Single submitter cone-rod dystrophy 6
p.Ala410Val Single submitter Leber congenital amaurosis 1 ⚠
p.Ala80_Leu84del Single submitter cone-rod dystrophy 6
p.Ala946Val Single submitter Autosomal recessive GUCY2D-related disorders ⚠
p.Ala950Val Single submitter GUCY2D-related disorders ⚠
p.Arg365Trp Single submitter choroidal dystrophy, central areolar, 1 ⚠
p.Arg380Cys Single submitter cone-rod dystrophy 6 ⚠
p.Arg383Trp Single submitter Inborn genetic diseases ⚠
p.Arg438Cys Single submitter cone-rod dystrophy 6 ⚠
p.Arg490Gln Single submitter cone-rod dystrophy 6 ⚠
p.Arg670Trp Single submitter Leber congenital amaurosis ⚠
p.Arg722Trp Single submitter Inborn genetic diseases ⚠
p.Arg761Trp Single submitter cone-rod dystrophy 6 ⚠
p.Asp279Asn Single submitter Leber congenital amaurosis 1 ⚠
p.Asp903Tyr Single submitter cone-rod dystrophy 6 ⚠
p.Cys133Arg Single submitter Leber congenital amaurosis 1 ⚠
p.Gly532Ala Single submitter Inborn genetic diseases ⚠
p.Gly653Glu Single submitter cone-rod dystrophy 6 ⚠
p.Leu1014= Single submitter cone-rod dystrophy 6
p.Leu176Pro Single submitter ⚠
p.Leu505= Single submitter Leber congenital amaurosis 1
p.Leu513Phe Single submitter cone-rod dystrophy 6 ⚠
p.Leu831Pro Single submitter inherited retinal dystrophy ⚠
p.Lys1048= Single submitter Leber congenital amaurosis 1
p.Lys695Arg Single submitter Inborn genetic diseases ⚠
p.Phe678= Single submitter Leber congenital amaurosis 1
p.Phe730Val Single submitter GUCY2D-related disorders ⚠
p.Pro127Leu Single submitter GUCY2D-related disorders ⚠
p.Pro153= Single submitter Leber congenital amaurosis 1
p.Pro163Leu Single submitter Inborn genetic diseases ⚠
p.Pro73Gln Single submitter GUCY2D-related disorders ⚠
p.Pro938Arg Single submitter Leber congenital amaurosis 1 ⚠
p.Ser1007Leu Single submitter Leber congenital amaurosis 1 ⚠
p.Ser115Pro Single submitter cone-rod dystrophy 6 ⚠
p.Ser248Leu Single submitter Leber congenital amaurosis 1 ⚠
p.Ser286_Leu292dup Single submitter cone-rod dystrophy 6
p.Ser981= Single submitter Inborn genetic diseases
p.Thr1002= Single submitter cone-rod dystrophy 6
p.Thr312Pro Single submitter GUCY2D-related disorders ⚠
p.Thr407= Single submitter Leber congenital amaurosis 1
p.Thr519Ile Single submitter choroidal dystrophy, central areolar, 1 ⚠
p.Thr839Met Single submitter GUCY2D-related disorders ⚠
p.Trp708Arg Single submitter cone-rod dystrophy 6 ⚠
p.Tyr173= Single submitter Leber congenital amaurosis 1
p.Val387Asp Single submitter cone-rod dystrophy 6 ⚠
p.Val58Gly Single submitter cone-rod dystrophy 6 ⚠
p.Val617= Single submitter cone-rod dystrophy 6
p.Val662Met Single submitter cone-rod dystrophy 6 ⚠
p.Val902Ala Single submitter inherited retinal dystrophy ⚠

Benign 29

c.3043+11C>T Expert panel GUCY2D-related recessive retinopathy
c.3044-7G>T Expert panel GUCY2D-related recessive retinopathy
p.Ala52Ser Expert panel GUCY2D-related recessive retinopathy
p.Ala91Pro Expert panel GUCY2D-related recessive retinopathy
p.Cys457= Expert panel GUCY2D-related recessive retinopathy
p.Gly123= Expert panel GUCY2D-related recessive retinopathy
p.Leu44_Leu45del Expert panel GUCY2D-related recessive retinopathy
p.Leu782His Expert panel GUCY2D-related recessive retinopathy
p.Pro575Leu Expert panel GUCY2D-related recessive retinopathy
p.Pro701Ser Expert panel GUCY2D-related recessive retinopathy
p.Pro859= Expert panel GUCY2D-related recessive retinopathy
p.Ser25Phe Expert panel GUCY2D-related recessive retinopathy
p.Trp21Arg Expert panel GUCY2D-related recessive retinopathy
c.2576+37G>T Multiple submitters choroidal dystrophy, central areolar, 1
c.2576+41G>C Multiple submitters
c.2577-31C>T Multiple submitters
c.2769+121T>C Multiple submitters
c.3043+20G>C Multiple submitters cone-rod dystrophy 6
c.-10+5A>G Multiple submitters
c.*24+59T>C Multiple submitters
p.Ala703= Multiple submitters cone-rod dystrophy 6
p.Cys4Tyr Multiple submitters Leber congenital amaurosis 1
p.His247= Multiple submitters cone-rod dystrophy 6
c.1956+15del Single submitter cone-rod dystrophy 6
c.2114-9del Single submitter cone-rod dystrophy 6
c.2264-13del Single submitter Leber congenital amaurosis 1
c.2413-221T>A Single submitter
c.2769+16del Single submitter Leber congenital amaurosis 1
c.3043+15del Single submitter Leber congenital amaurosis 1

Benign/Likely benign 12

c.1026+6C>T Multiple submitters Leber congenital amaurosis 1
c.1566+17G>A Multiple submitters Leber congenital amaurosis 1
c.2413-14C>T Multiple submitters Leber congenital amaurosis 1
c.2577-15G>A Multiple submitters cone-rod dystrophy 6
c.3225-10C>T Multiple submitters Leber congenital amaurosis 1
c.3225-10del Multiple submitters Leber congenital amaurosis 1
c.3225-7C>T Multiple submitters cone-rod dystrophy 6
p.Gly553= Multiple submitters cone-rod dystrophy 6
p.Leu205= Multiple submitters cone-rod dystrophy 6
p.Pro1099= Multiple submitters cone-rod dystrophy 6
p.Ser1082= Multiple submitters Leber congenital amaurosis 1
p.Val373= Multiple submitters cone-rod dystrophy 6

Likely benign 616

Showing the top 300 by review status; the full set is in the sitemap.

p.Arg574His Expert panel GUCY2D-related recessive retinopathy
p.Asp412= Expert panel GUCY2D-related recessive retinopathy
p.Met773Thr Expert panel GUCY2D-related recessive retinopathy
p.Ser1033Leu Expert panel GUCY2D-related recessive retinopathy
p.Thr55Met Expert panel GUCY2D-related recessive retinopathy ⚠
p.Val361Met Expert panel GUCY2D-related recessive retinopathy
p.Val973Leu Expert panel GUCY2D-related recessive retinopathy
c.1026+13G>C Multiple submitters Leber congenital amaurosis 1
c.1378+12C>T Multiple submitters cone-rod dystrophy 6
c.1379-17T>C Multiple submitters Leber congenital amaurosis 1
c.1379-8C>T Multiple submitters cone-rod dystrophy 6
c.1463+17G>A Multiple submitters cone-rod dystrophy 6
c.1463+39G>A Multiple submitters
c.1464-15del Multiple submitters Leber congenital amaurosis 1
c.1668+17C>T Multiple submitters Leber congenital amaurosis 1
c.1749+11G>A Multiple submitters Leber congenital amaurosis 1
c.1750-15C>T Multiple submitters cone-rod dystrophy 6
c.1956+21G>T Multiple submitters
c.2113+9C>G Multiple submitters cone-rod dystrophy 6
c.2114-15C>T Multiple submitters Leber congenital amaurosis 1
c.2114-8A>G Multiple submitters Leber congenital amaurosis 1
c.2263+17C>T Multiple submitters Leber congenital amaurosis 1
c.2263+18G>A Multiple submitters cone-rod dystrophy 6
c.2576+20G>A Multiple submitters Leber congenital amaurosis 1
c.2769+15G>A Multiple submitters Leber congenital amaurosis 1
c.2769+16G>C Multiple submitters Leber congenital amaurosis 1
c.2770-7C>T Multiple submitters cone-rod dystrophy 6
c.2944+15T>G Multiple submitters Leber congenital amaurosis 1
c.2944+18C>T Multiple submitters cone-rod dystrophy 6
c.2945-20G>A Multiple submitters cone-rod dystrophy 6
c.3043+12G>A Multiple submitters Leber congenital amaurosis 1
c.3044-20G>A Multiple submitters Leber congenital amaurosis 1
p.Ala140= Multiple submitters Leber congenital amaurosis 1
p.Ala169= Multiple submitters Leber congenital amaurosis 1
p.Ala207= Multiple submitters Leber congenital amaurosis 1
p.Ala353= Multiple submitters Leber congenital amaurosis 1
p.Ala385= Multiple submitters cone-rod dystrophy 6
p.Ala409= Multiple submitters cone-rod dystrophy 6
p.Ala608= Multiple submitters Leber congenital amaurosis 1
p.Ala726= Multiple submitters Leber congenital amaurosis 1
p.Ala8= Multiple submitters Leber congenital amaurosis 1
p.Arg1017= Multiple submitters cone-rod dystrophy 6
p.Arg1091= Multiple submitters Leber congenital amaurosis 1
p.Arg1092= Multiple submitters Leber congenital amaurosis 1
p.Arg677= Multiple submitters cone-rod dystrophy 6
p.Asn591= Multiple submitters Leber congenital amaurosis 1
p.Asp170= Multiple submitters Leber congenital amaurosis 1
p.Asp508= Multiple submitters cone-rod dystrophy 6
p.Asp728= Multiple submitters Leber congenital amaurosis 1
p.Gln694= Multiple submitters Leber congenital amaurosis 1
p.Glu825= Multiple submitters Leber congenital amaurosis 1
p.Glu872= Multiple submitters cone-rod dystrophy 6
p.Gly1034= Multiple submitters cone-rod dystrophy 6
p.Gly348= Multiple submitters cone-rod dystrophy 6
p.Gly360= Multiple submitters cone-rod dystrophy 6
p.Gly542Ser Multiple submitters cone-rod dystrophy 6
p.Gly597= Multiple submitters cone-rod dystrophy 6
p.Gly60= Multiple submitters cone-rod dystrophy 6
p.Gly888= Multiple submitters cone-rod dystrophy 6
p.Gly928= Multiple submitters cone-rod dystrophy 6
p.His514= Multiple submitters Leber congenital amaurosis 1
p.His687= Multiple submitters cone-rod dystrophy 6
p.Ile145= Multiple submitters cone-rod dystrophy 6
p.Ile892= Multiple submitters Leber congenital amaurosis 1
p.Leu1028= Multiple submitters cone-rod dystrophy 6
p.Leu1094= Multiple submitters cone-rod dystrophy 6
p.Leu251= Multiple submitters Leber congenital amaurosis 1
p.Leu322= Multiple submitters cone-rod dystrophy 6
p.Leu394= Multiple submitters Leber congenital amaurosis 1
p.Leu42= Multiple submitters Leber congenital amaurosis 1
p.Leu44= Multiple submitters Leber congenital amaurosis 1
p.Leu465= Multiple submitters Leber congenital amaurosis 1
p.Leu478= Multiple submitters cone-rod dystrophy 6
p.Leu646= Multiple submitters Leber congenital amaurosis 1
p.Leu90= Multiple submitters cone-rod dystrophy 6
p.Met244Leu Multiple submitters cone-rod dystrophy 6
p.Phe1062= Multiple submitters cone-rod dystrophy 6
p.Phe512= Multiple submitters cone-rod dystrophy 6
p.Pro127= Multiple submitters cone-rod dystrophy 6
p.Pro14= Multiple submitters Leber congenital amaurosis 1
p.Pro237= Multiple submitters Leber congenital amaurosis 1
p.Pro27= Multiple submitters Leber congenital amaurosis 1
p.Pro698= Multiple submitters Leber congenital amaurosis 1
p.Pro753= Multiple submitters cone-rod dystrophy 6
p.Pro792= Multiple submitters Leber congenital amaurosis 1
p.Ser426= Multiple submitters Leber congenital amaurosis 1
p.Ser441= Multiple submitters Leber congenital amaurosis 1
p.Ser498= Multiple submitters cone-rod dystrophy 6
p.Ser819= Multiple submitters Leber congenital amaurosis 1
p.Thr1012= Multiple submitters cone-rod dystrophy 6
p.Thr1043= Multiple submitters cone-rod dystrophy 6
p.Thr161= Multiple submitters Leber congenital amaurosis 1
p.Thr203= Multiple submitters Leber congenital amaurosis 1
p.Thr269= Multiple submitters Leber congenital amaurosis 1
p.Thr623= Multiple submitters Leber congenital amaurosis 1
p.Thr683= Multiple submitters cone-rod dystrophy 6
p.Thr724= Multiple submitters Leber congenital amaurosis 1
p.Thr867= Multiple submitters cone-rod dystrophy 6
p.Val1003= Multiple submitters cone-rod dystrophy 6
p.Val242= Multiple submitters cone-rod dystrophy 6
p.Val592= Multiple submitters Leber congenital amaurosis 1
p.Val778= Multiple submitters Leber congenital amaurosis 1
p.Val921= Multiple submitters cone-rod dystrophy 6
c.1026+11C>G Single submitter cone-rod dystrophy 6
c.1026+11C>T Single submitter cone-rod dystrophy 6
c.1026+12C>T Single submitter Leber congenital amaurosis 1
c.1026+13G>A Single submitter cone-rod dystrophy 6
c.1026+15G>A Single submitter cone-rod dystrophy 6
c.1026+16A>C Single submitter Leber congenital amaurosis 1
c.1026+20G>A Single submitter cone-rod dystrophy 6
c.1026+7G>A Single submitter cone-rod dystrophy 6
c.1026+9T>C Single submitter cone-rod dystrophy 6
c.1027-12C>G Single submitter cone-rod dystrophy 6
c.1027-5T>A Single submitter cone-rod dystrophy 6
c.1027-7_1027-5del Single submitter cone-rod dystrophy 6
c.1027-7T>G Single submitter cone-rod dystrophy 6
c.1378+14C>T Single submitter Leber congenital amaurosis 1
c.1378+15C>A Single submitter cone-rod dystrophy 6
c.1378+16C>G Single submitter cone-rod dystrophy 6
c.1378+19G>C Single submitter Leber congenital amaurosis 1
c.1378+20del Single submitter Leber congenital amaurosis 1
c.1378+8C>A Single submitter Leber congenital amaurosis 1
c.1378+8C>G Single submitter Leber congenital amaurosis 1
c.1378+9G>T Single submitter cone-rod dystrophy 6
c.1379-16G>A Single submitter Leber congenital amaurosis 1
c.1379-16G>T Single submitter cone-rod dystrophy 6
c.1379-19C>T Single submitter Leber congenital amaurosis 1
c.1379-20T>G Single submitter Leber congenital amaurosis 1
c.1379-5T>C Single submitter Leber congenital amaurosis 1
c.1379-6C>T Single submitter cone-rod dystrophy 6
c.1463+11G>T Single submitter Leber congenital amaurosis 1
c.1463+15G>T Single submitter cone-rod dystrophy 6
c.1463+16A>G Single submitter cone-rod dystrophy 6
c.1463+20A>G Single submitter cone-rod dystrophy 6
c.1463+7A>T Single submitter
c.1463+8G>C Single submitter Leber congenital amaurosis 1
c.1464-14T>G Single submitter Leber congenital amaurosis 1
c.1464-19T>C Single submitter Leber congenital amaurosis 1
c.1464-4C>T Single submitter cone-rod dystrophy 6
c.1464-5A>C Single submitter Leber congenital amaurosis 1
c.1464-6C>T Single submitter cone-rod dystrophy 6
c.1464-7C>T Single submitter cone-rod dystrophy 6
c.1464-8T>C Single submitter Leber congenital amaurosis 1
c.1566+12A>C Single submitter cone-rod dystrophy 6
c.1566+12AG[2] Single submitter cone-rod dystrophy 6
c.1566+7G>A Single submitter cone-rod dystrophy 6
c.1567-13C>T Single submitter cone-rod dystrophy 6
c.1567-14C>T Single submitter cone-rod dystrophy 6
c.1567-20C>T Single submitter Leber congenital amaurosis 1
c.1567-9A>G Single submitter Leber congenital amaurosis 1
c.1668+11C>A Single submitter cone-rod dystrophy 6
c.1668+17C>A Single submitter cone-rod dystrophy 6
c.1668+22_1668+25del Single submitter Leber congenital amaurosis 1
c.1669-13C>A Single submitter cone-rod dystrophy 6
c.1669-13C>T Single submitter Leber congenital amaurosis 1
c.1669-14C>A Single submitter cone-rod dystrophy 6
c.1669-14C>G Single submitter cone-rod dystrophy 6
c.1669-15T>A Single submitter cone-rod dystrophy 6
c.1669-17C>G Single submitter Leber congenital amaurosis 1
c.1669-17C>T Single submitter cone-rod dystrophy 6
c.1669-18C>A Single submitter cone-rod dystrophy 6
c.1669-18C>G Single submitter cone-rod dystrophy 6
c.1669-19C>G Single submitter Leber congenital amaurosis 1
c.1669-4G>T Single submitter Leber congenital amaurosis 1
c.1669-5T>C Single submitter cone-rod dystrophy 6
c.1669-9_1669-8del Single submitter Leber congenital amaurosis 1
c.1749+14C>T Single submitter cone-rod dystrophy 6
c.1749+16G>A Single submitter Leber congenital amaurosis 1
c.1750-12dup Single submitter cone-rod dystrophy 6
c.1750-16A>G Single submitter cone-rod dystrophy 6
c.1750-16A>T Single submitter cone-rod dystrophy 6
c.1750-5C>T Single submitter cone-rod dystrophy 6
c.1750-6T>C Single submitter cone-rod dystrophy 6
c.1750-8C>G Single submitter Leber congenital amaurosis 1
c.1956+11G>A Single submitter cone-rod dystrophy 6
c.1956+11G>C Single submitter cone-rod dystrophy 6
c.1956+12G>T Single submitter Leber congenital amaurosis 1
c.1956+13G>A Single submitter Leber congenital amaurosis 1
c.1956+14G>T Single submitter Leber congenital amaurosis 1
c.1956+15G>A Single submitter cone-rod dystrophy 6
c.1956+19T>G Single submitter Leber congenital amaurosis 1
c.1956+7G>A Single submitter cone-rod dystrophy 6
c.1956+9C>T Single submitter cone-rod dystrophy 6
c.1957-11C>T Single submitter Leber congenital amaurosis 1
c.1957-17A>G Single submitter Leber congenital amaurosis 1
c.1957-7T>C Single submitter cone-rod dystrophy 6
c.1957-9C>A Single submitter Leber congenital amaurosis 1
c.1957-9C>G Single submitter cone-rod dystrophy 6
c.2113+10C>T Single submitter cone-rod dystrophy 6
c.2113+11C>T Single submitter Leber congenital amaurosis 1
c.2113+13T>C Single submitter cone-rod dystrophy 6
c.2113+34G>A Single submitter
c.2113+9C>A Single submitter cone-rod dystrophy 6
c.2113+9C>T Single submitter Leber congenital amaurosis 1
c.2114-14T>C Single submitter cone-rod dystrophy 6
c.2114-17_2114-16delinsTT Single submitter cone-rod dystrophy 6
c.2114-17C>A Single submitter cone-rod dystrophy 6
c.2114-17C>T Single submitter cone-rod dystrophy 6
c.2114-18C>A Single submitter cone-rod dystrophy 6
c.2114-7T>A Single submitter cone-rod dystrophy 6
c.2114-8A>C Single submitter cone-rod dystrophy 6
c.2114-9C>T Single submitter cone-rod dystrophy 6
c.2263+20G>A Single submitter cone-rod dystrophy 6
c.2264-10A>G Single submitter Leber congenital amaurosis 1
c.2264-11C>T Single submitter cone-rod dystrophy 6
c.2264-14C>T Single submitter cone-rod dystrophy 6
c.2264-16C>A Single submitter cone-rod dystrophy 6
c.2264-18G>C Single submitter cone-rod dystrophy 6
c.2264-7C>A Single submitter cone-rod dystrophy 6
c.2412+10T>C Single submitter Leber congenital amaurosis 1
c.2412+11G>A Single submitter Leber congenital amaurosis 1
c.2412+13G>A Single submitter cone-rod dystrophy 6
c.2412+16T>A Single submitter cone-rod dystrophy 6
c.2412+8G>A Single submitter cone-rod dystrophy 6
c.2412+8G>C Single submitter Leber congenital amaurosis 1
c.2413-12T>C Single submitter Leber congenital amaurosis 1
c.2413-13C>T Single submitter Leber congenital amaurosis 1
c.2413-14C>G Single submitter cone-rod dystrophy 6
c.2413-18G>T Single submitter Leber congenital amaurosis 1
c.2413-4C>T Single submitter cone-rod dystrophy 6
c.2413-6T>C Single submitter cone-rod dystrophy 6
c.2576+12T>G Single submitter
c.2576+15G>A Single submitter Leber congenital amaurosis 1
c.2576+7G>T Single submitter cone-rod dystrophy 6
c.2576+8C>T Single submitter Leber congenital amaurosis 1
c.2577-11G>A Single submitter cone-rod dystrophy 6
c.2577-6C>T Single submitter cone-rod dystrophy 6
c.2769+14G>C Single submitter Leber congenital amaurosis 1
c.2769+15G>C Single submitter Leber congenital amaurosis 1
c.2769+16G>A Single submitter Leber congenital amaurosis 1
c.2769+18C>G Single submitter Leber congenital amaurosis 1
c.2769+8G>A Single submitter cone-rod dystrophy 6
c.2769+9T>G Single submitter cone-rod dystrophy 6
c.2770-10C>T Single submitter cone-rod dystrophy 6
c.2770-13C>T Single submitter cone-rod dystrophy 6
c.2770-14_2770-12del Single submitter Leber congenital amaurosis 1
c.2770-16C>T Single submitter cone-rod dystrophy 6
c.2770-20A>C Single submitter Leber congenital amaurosis 1
c.2770-4C>G Single submitter cone-rod dystrophy 6
c.2770-4C>T Single submitter cone-rod dystrophy 6
c.2770-7C>A Single submitter cone-rod dystrophy 6
c.2944+10G>C Single submitter Leber congenital amaurosis 1
c.2944+11G>A Single submitter cone-rod dystrophy 6
c.2944+14_2944+23dup Single submitter cone-rod dystrophy 6
c.2944+17C>G Single submitter cone-rod dystrophy 6
c.2944+18C>G Single submitter cone-rod dystrophy 6
c.2944+19_2944+26del Single submitter cone-rod dystrophy 6
c.2944+7C>T Single submitter cone-rod dystrophy 6
c.2944+9C>T Single submitter cone-rod dystrophy 6
c.2945-11C>A Single submitter cone-rod dystrophy 6
c.2945-14C>T Single submitter cone-rod dystrophy 6
c.2945-15C>T Single submitter cone-rod dystrophy 6
c.2945-16C>A Single submitter Leber congenital amaurosis 1
c.2945-16C>T Single submitter cone-rod dystrophy 6
c.2945-18C>A Single submitter cone-rod dystrophy 6
c.2945-18C>G Single submitter Leber congenital amaurosis 1
c.3043+11C>A Single submitter Leber congenital amaurosis 1
c.3043+14G>A Single submitter cone-rod dystrophy 6
c.3043+14G>C Single submitter cone-rod dystrophy 6
c.3043+17_3043+27dup Single submitter cone-rod dystrophy 6
c.3043+17C>T Single submitter Leber congenital amaurosis 1
c.3043+9G>C Single submitter Leber congenital amaurosis 1
c.3044-10A>G Single submitter Leber congenital amaurosis 1
c.3044-13C>T Single submitter
c.3044-5C>T Single submitter cone-rod dystrophy 6
c.3044-9C>T Single submitter
c.3138+17A>G Single submitter Leber congenital amaurosis 1
c.3139-12A>G Single submitter Leber congenital amaurosis 1
c.3139-13C>T Single submitter cone-rod dystrophy 6
c.3139-14C>T Single submitter cone-rod dystrophy 6
c.3139-4C>T Single submitter cone-rod dystrophy 6
c.3139-7dup Single submitter cone-rod dystrophy 6
c.3224+10C>T Single submitter cone-rod dystrophy 6
c.3224+11_3224+44del Single submitter Leber congenital amaurosis 1
c.3224+16C>A Single submitter cone-rod dystrophy 6
c.3224+20G>A Single submitter cone-rod dystrophy 6
c.3224+7G>A Single submitter cone-rod dystrophy 6
c.3225-10C>G Single submitter Leber congenital amaurosis 1
c.3225-11C>A Single submitter cone-rod dystrophy 6
c.3225-11C>G Single submitter cone-rod dystrophy 6
c.3225-11C>T Single submitter cone-rod dystrophy 6
c.3225-12C>G Single submitter cone-rod dystrophy 6
c.3225-14C>A Single submitter cone-rod dystrophy 6
c.3225-15G>A Single submitter cone-rod dystrophy 6
c.3225-16C>G Single submitter cone-rod dystrophy 6
c.3225-16C>T Single submitter
c.3225-19C>T Single submitter cone-rod dystrophy 6
c.3225-8C>T Single submitter cone-rod dystrophy 6
c.3225-9T>G Single submitter Leber congenital amaurosis 1
c.721+10C>T Single submitter cone-rod dystrophy 6
c.721+14C>A Single submitter
c.721+17G>A Single submitter cone-rod dystrophy 6
c.721+17G>T Single submitter cone-rod dystrophy 6
c.721+8C>G Single submitter cone-rod dystrophy 6
c.721+9C>T Single submitter Leber congenital amaurosis 1
c.722-12C>T Single submitter cone-rod dystrophy 6
c.722-17C>A Single submitter cone-rod dystrophy 6
c.722-4G>A Single submitter cone-rod dystrophy 6
c.722-5C>T Single submitter cone-rod dystrophy 6
c.-10+150C>T Single submitter

Uncertain significance 721

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala328Pro Expert panel GUCY2D-related recessive retinopathy ⚠
p.Arg540Cys Expert panel GUCY2D-related recessive retinopathy ⚠
p.Arg660Gln Expert panel GUCY2D-related recessive retinopathy ⚠
p.Asp558Asn Expert panel GUCY2D-related recessive retinopathy ⚠
p.Glu333Lys Expert panel GUCY2D-related recessive retinopathy ⚠
p.Glu874Lys Expert panel GUCY2D-related recessive retinopathy ⚠
p.Gly727Ser Expert panel GUCY2D-related recessive retinopathy ⚠
p.His687Tyr Expert panel GUCY2D-related recessive retinopathy ⚠
p.Pro500Leu Expert panel GUCY2D-related recessive retinopathy ⚠
c.1566+3G>T Multiple submitters Leber congenital amaurosis 1
c.2945-7_2945-6del Multiple submitters cone-rod dystrophy 6
c.721+5G>T Multiple submitters cone-rod dystrophy 6
p.Ala1050Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala131Glu Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala174Thr Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala178Val Multiple submitters Leber congenital amaurosis 1 ⚠
p.Ala189Val Multiple submitters cone-rod dystrophy 6
p.Ala296Asp Multiple submitters Leber congenital amaurosis 1 ⚠
p.Ala358Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala362Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala385Thr Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala385Val Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala49Ser Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala572Pro Multiple submitters Leber congenital amaurosis 1 ⚠
p.Ala616Val Multiple submitters Inborn genetic diseases ⚠
p.Ala63Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala663Thr Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala693Glu Multiple submitters cone-rod dystrophy 6
p.Ala703Val Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala930Thr Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala959Thr Multiple submitters cone-rod dystrophy 6 ⚠
p.Ala99Val Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg1060His Multiple submitters Inborn genetic diseases ⚠
p.Arg106Leu Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg1090Trp Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg1092Trp Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg1098Gly Multiple submitters cone-rod dystrophy 6
p.Arg199Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg208Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg231Ser Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg31Gly Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg331Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg331Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg35Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg380His Multiple submitters Inborn genetic diseases ⚠
p.Arg383Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg383Leu Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg424Trp Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg433Gly Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg521Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg528Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg534His Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg540His Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg540Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg574Cys Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg602Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg602Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg602Trp Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg624Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg624Trp Multiple submitters cone-rod dystrophy 6
p.Arg634Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg655Lys Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg666Gln Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg670Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg6Cys Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg721His Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg722Gln Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg72Leu Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg742Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg742His Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg761Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg78_Ala81dup Multiple submitters cone-rod dystrophy 6
p.Arg812Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg812Trp Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg822Gln Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg822Pro Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg822Trp Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg836Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg836Trp Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg851Trp Multiple submitters Leber congenital amaurosis 1 ⚠
p.Arg944Gly Multiple submitters Inborn genetic diseases
p.Arg966Gly Multiple submitters cone-rod dystrophy 6 ⚠
p.Arg966His Multiple submitters Inborn genetic diseases
p.Arg974His Multiple submitters Leber congenital amaurosis 1 ⚠
p.Asn809Ser Multiple submitters cone-rod dystrophy 6 ⚠
p.Asp170Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp192Glu Multiple submitters cone-rod dystrophy 6
p.Asp384Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp629Glu Multiple submitters cone-rod dystrophy 6
p.Asp716Asn Multiple submitters cone-rod dystrophy 6 ⚠
p.Asp803Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp903Ala Multiple submitters Leber congenital amaurosis 1 ⚠
p.Cys17Arg Multiple submitters night blindness, congenital stationary, type1i ⚠
p.Cys787Gly Multiple submitters Leber congenital amaurosis 1 ⚠
p.Gln341Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1051Lys Multiple submitters night blindness, congenital stationary, type1i ⚠
p.Glu1089Gln Multiple submitters cone-rod dystrophy 6 ⚠
p.Glu1089Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu141Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu142Lys Multiple submitters cone-rod dystrophy 6 ⚠
p.Glu265Lys Multiple submitters cone-rod dystrophy 6 ⚠
p.Glu398Lys Multiple submitters Leber congenital amaurosis 1 ⚠
p.Glu586Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu590Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu754Lys Multiple submitters cone-rod dystrophy 6 ⚠
p.Glu779Lys Multiple submitters cone-rod dystrophy 6 ⚠
p.Glu832Lys Multiple submitters cone-rod dystrophy 6 ⚠
p.Glu97Lys Multiple submitters Leber congenital amaurosis 1 ⚠
p.Gly1061Ser Multiple submitters cone-rod dystrophy 6 ⚠
p.Gly1080Arg Multiple submitters cone-rod dystrophy 6 ⚠
p.Gly109Asp Multiple submitters Leber congenital amaurosis 1 ⚠
p.Gly151Asp Multiple submitters cone-rod dystrophy 6 ⚠
p.Gly151Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly425Ala Multiple submitters cone-rod dystrophy 6 ⚠
p.Gly469Ser Multiple submitters Leber congenital amaurosis 1 ⚠
p.Gly499Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly518Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly518Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly526Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly603Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly613Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly686Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly688Arg Multiple submitters Leber congenital amaurosis 1 ⚠
p.Gly811Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly811Ser Multiple submitters cone-rod dystrophy 6
p.Gly93Ser Multiple submitters Leber congenital amaurosis 1 ⚠
p.His516Arg Multiple submitters Inborn genetic diseases ⚠
p.His570Tyr Multiple submitters Inborn genetic diseases ⚠
p.His967Arg Multiple submitters Leber congenital amaurosis 1 ⚠
p.Ile1086Met Multiple submitters Inborn genetic diseases
p.Ile573Val Multiple submitters inherited retinal dystrophy ⚠
p.Ile735Thr Multiple submitters cone-rod dystrophy 6 ⚠
p.Ile915Val Multiple submitters Leber congenital amaurosis 1 ⚠
p.Ile977Leu Multiple submitters Leber congenital amaurosis 1 ⚠
p.Leu205Phe Multiple submitters cone-rod dystrophy 6
p.Leu268Met Multiple submitters Inborn genetic diseases ⚠
p.Leu311Ile Multiple submitters cone-rod dystrophy 6 ⚠
p.Leu33Gln Multiple submitters Inborn genetic diseases ⚠
p.Leu346His Multiple submitters cone-rod dystrophy 6 ⚠
p.Leu38Phe Multiple submitters cone-rod dystrophy 6 ⚠
p.Leu41Phe Multiple submitters inherited retinal dystrophy ⚠
p.Leu45del Multiple submitters choroidal dystrophy, central areolar, 1
p.Leu468Pro Multiple submitters cone-rod dystrophy 6 ⚠
p.Leu478Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu491Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu587Val Multiple submitters Leber congenital amaurosis 1 ⚠
p.Leu610Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu610Val Multiple submitters Inborn genetic diseases ⚠
p.Leu725Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu804= Multiple submitters Leber congenital amaurosis 1
p.Lys522Glu Multiple submitters cone-rod dystrophy 6 ⚠
p.Lys813Asn Multiple submitters cone-rod dystrophy 6 ⚠
p.Met246Val Multiple submitters cone-rod dystrophy 6 ⚠
p.Met419Ile Multiple submitters Inborn genetic diseases ⚠
p.Met736Thr Multiple submitters Inborn genetic diseases
p.Met895Val Multiple submitters cone-rod dystrophy 6 ⚠
p.Met968Ile Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro1074Ser Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro12Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro14Ala Multiple submitters choroidal dystrophy, central areolar, 1 ⚠
p.Pro190Arg Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro220Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro237His Multiple submitters Leber congenital amaurosis 1 ⚠
p.Pro287Leu Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro289Leu Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro345Ala Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro400Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro443Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro447Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro47Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro698Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro73Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro73Leu Multiple submitters Leber congenital amaurosis 1 ⚠
p.Pro792Leu Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro858Thr Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro859Leu Multiple submitters cone-rod dystrophy 6 ⚠
p.Pro870Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser1077Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser286Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser344Cys Multiple submitters cone-rod dystrophy 6
p.Ser344Phe Multiple submitters Leber congenital amaurosis 1
p.Ser549Arg Multiple submitters Leber congenital amaurosis 1 ⚠
p.Ser860Pro Multiple submitters Leber congenital amaurosis 1 ⚠
p.Ser935Leu Multiple submitters Leber congenital amaurosis 1 ⚠
p.Thr1005Ile Multiple submitters cone-rod dystrophy 6 ⚠
p.Thr160Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr161Met Multiple submitters Inborn genetic diseases ⚠
p.Thr166Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr216Ile Multiple submitters Leber congenital amaurosis 1 ⚠
p.Thr312Ala Multiple submitters cone-rod dystrophy 6
p.Thr312Arg Multiple submitters Leber congenital amaurosis 1 ⚠
p.Thr312Lys Multiple submitters Leber congenital amaurosis 1 ⚠
p.Thr407Met Multiple submitters cone-rod dystrophy 6 ⚠
p.Thr417Ser Multiple submitters Leber congenital amaurosis 1 ⚠
p.Thr579Met Multiple submitters Inborn genetic diseases ⚠
p.Thr623Met Multiple submitters Inborn genetic diseases ⚠
p.Thr724Met Multiple submitters Inborn genetic diseases ⚠
p.Thr814Met Multiple submitters cone-rod dystrophy 6 ⚠
p.Thr839Arg Multiple submitters cone-rod dystrophy 6 ⚠
p.Thr849Ile Multiple submitters ⚠
p.Thr867Lys Multiple submitters cone-rod dystrophy 6 ⚠
p.Trp21Gln Multiple submitters
p.Tyr827Cys Multiple submitters cone-rod dystrophy 6 ⚠
p.Val1057Met Multiple submitters Inborn genetic diseases ⚠
p.Val114Met Multiple submitters cone-rod dystrophy 6 ⚠
p.Val249Met Multiple submitters Inborn genetic diseases ⚠
p.Val473Met Multiple submitters Inborn genetic diseases ⚠
p.Val474Ile Multiple submitters cone-rod dystrophy 6 ⚠
p.Val497Phe Multiple submitters Inborn genetic diseases ⚠
p.Val507Met Multiple submitters cone-rod dystrophy 6 ⚠
p.Val592Met Multiple submitters Inborn genetic diseases
p.Val618Ile Multiple submitters cone-rod dystrophy 6 ⚠
p.Val679Ile Multiple submitters Inborn genetic diseases ⚠
p.Val887Leu Multiple submitters cone-rod dystrophy 6 ⚠
p.Val933Ala Multiple submitters choroidal dystrophy, central areolar, 1 ⚠
c.1378+5G>A Single submitter Leber congenital amaurosis 1
c.1378+5G>C Single submitter cone-rod dystrophy 6
c.1378+8C>T Single submitter cone-rod dystrophy 6
c.1378+9G>A Single submitter
c.1463+5G>C Single submitter
c.1464-3C>G Single submitter cone-rod dystrophy 6
c.1566+4G>A Single submitter Leber congenital amaurosis 1
c.1567-15A>T Single submitter choroidal dystrophy, central areolar, 1
c.1567-17T>A Single submitter
c.1668+4A>G Single submitter Leber congenital amaurosis 1
c.1668+4A>T Single submitter cone-rod dystrophy 6
c.2412+4A>C Single submitter cone-rod dystrophy 6
c.2944+6T>C Single submitter Leber congenital amaurosis 1
c.2945-19A>G Single submitter
c.3043+4_3043+7del Single submitter Leber congenital amaurosis 1
c.3043+4A>T Single submitter night blindness, congenital stationary, type1i
c.3044-15_3046dup Single submitter
c.3138+6G>T Single submitter cone-rod dystrophy 6
c.3139-3C>G Single submitter cone-rod dystrophy 6
c.3139-9T>G Single submitter
c.3224+6G>A Single submitter cone-rod dystrophy 6
c.3225-2A>T Single submitter Leber congenital amaurosis 1
c.3225-5T>G Single submitter
c.721+5G>C Single submitter Leber congenital amaurosis 1
c.722-17C>T Single submitter Leber congenital amaurosis 1
c.722-20A>G Single submitter Leber congenital amaurosis 1
c.-9-4G>T Single submitter
c.*24+2T>G Single submitter
p.Ala1097Ser Single submitter cone-rod dystrophy 6 ⚠
p.Ala117Val Single submitter ⚠
p.Ala131Val Single submitter ⚠
p.Ala140Pro Single submitter ⚠
p.Ala140Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala146Val Single submitter Leber congenital amaurosis 1 ⚠
p.Ala157Gly Single submitter Inborn genetic diseases ⚠
p.Ala157Val Single submitter ⚠
p.Ala162Asp Single submitter Leber congenital amaurosis 1
p.Ala164Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala169Leu Single submitter Leber congenital amaurosis 1
p.Ala171Thr Single submitter Inborn genetic diseases ⚠
p.Ala174Asp Single submitter cone-rod dystrophy 6 ⚠
p.Ala174Ser Single submitter Leber congenital amaurosis 1 ⚠
p.Ala178_Arg183del Single submitter Leber congenital amaurosis 1
p.Ala197Val Single submitter Leber congenital amaurosis 1 ⚠
p.Ala204Thr Single submitter Leber congenital amaurosis 1 ⚠
p.Ala207Asp Single submitter Inborn genetic diseases ⚠
p.Ala207Ser Single submitter Inborn genetic diseases ⚠
p.Ala20Val Single submitter Inborn genetic diseases ⚠
p.Ala229Ser Single submitter Leber congenital amaurosis 1 ⚠
p.Ala229Thr Single submitter Inborn genetic diseases ⚠
p.Ala241Pro Single submitter ⚠
p.Ala262Asp Single submitter Leber congenital amaurosis 1 ⚠
p.Ala263Pro Single submitter cone-rod dystrophy 6 ⚠
p.Ala263Ser Single submitter cone-rod dystrophy 6 ⚠
p.Ala296Gly Single submitter ⚠
p.Ala32_Arg35del Single submitter Leber congenital amaurosis 1
p.Ala328Asp Single submitter cone-rod dystrophy 6 ⚠
p.Ala353Glu Single submitter Leber congenital amaurosis 1 ⚠
p.Ala353Ser Single submitter Inborn genetic diseases ⚠
p.Ala353Val Single submitter
p.Ala358Ser Single submitter Leber congenital amaurosis 1 ⚠
p.Ala358Val Single submitter cone-rod dystrophy 6 ⚠
p.Ala367Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala377Val Single submitter ⚠
p.Ala385Glu Single submitter Inborn genetic diseases ⚠
p.Ala409Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala410Gly Single submitter cone-rod dystrophy 6 ⚠
p.Ala423Val Single submitter ⚠
p.Ala430= Single submitter cone-rod dystrophy 6
p.Ala430Thr Single submitter Leber congenital amaurosis 1 ⚠
p.Ala49Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala52= Single submitter
p.Ala52Val Single submitter Inborn genetic diseases ⚠
p.Ala5Thr Single submitter Leber congenital amaurosis 1 ⚠
p.Ala601Val Single submitter Leber congenital amaurosis 1 ⚠
p.Ala608Thr Single submitter Leber congenital amaurosis 1 ⚠
p.Ala608Val Single submitter cone-rod dystrophy 6 ⚠
p.Ala609Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala632Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala703Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala718Gly Single submitter cone-rod dystrophy 6 ⚠
p.Ala726Thr Single submitter cone-rod dystrophy 6 ⚠
p.Ala733Ser Single submitter ⚠
p.Ala76Thr Single submitter Leber congenital amaurosis 1 ⚠
p.Ala776Thr Single submitter cone-rod dystrophy 6 ⚠