BEST1 — 926 ClinVar variants
All ClinVar germline BEST1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 354 flagged for review →
138 Pathogenic · 81 Pathogenic/Likely pathogenic · 106 Likely pathogenic · 49 Conflicting · 53 Benign · 6 Benign/Likely benign · 184 Likely benign · 309 Uncertain significance
Full BEST1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 354
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 38
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BEST1 p.Arg13Cys
Pathogenic/Likely pathogenic
Multiple submitters
Macular dystrophy
-
BEST1 p.Arg13Gly
Pathogenic/Likely pathogenic
Multiple submitters
isolated macular dystrophy
-
BEST1 p.Arg13His
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Arg202Trp
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Arg25Gln
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Arg47Cys Pathogenic/Likely pathogenic Multiple submitters
-
BEST1 p.Arg47His
Pathogenic/Likely pathogenic
Multiple submitters
autosomal dominant vitreoretinochoroidopathy
-
BEST1 p.Asn296Ser
Pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Glu98Gly
Likely pathogenic
Multiple submitters
vitelliform macular dystrophy 2
- BEST1 p.Ile295Val Pathogenic/Likely pathogenic Multiple submitters
-
BEST1 p.Leu134Val
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Lys30Arg
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Pro468Leu
Pathogenic
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Thr307Ala Likely pathogenic Multiple submitters
-
BEST1 p.Thr307Ile
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Thr6Ala
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Arg202Gln Likely pathogenic Single submitter
- BEST1 p.Asn11Ser Likely pathogenic Single submitter
-
BEST1 p.Asn95Tyr
Likely pathogenic
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Asn99Tyr Pathogenic Single submitter
-
BEST1 p.Gln58Glu
Likely pathogenic
Single submitter
vitelliform macular dystrophy 2
-
BEST1 p.Glu98Asp
Pathogenic
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Glu98Lys Pathogenic Single submitter
- BEST1 p.Gly135Ser Likely pathogenic Single submitter
-
BEST1 p.Ile205Thr
Pathogenic
Single submitter
retinitis pigmentosa 50
- BEST1 p.Ile295Leu Pathogenic Single submitter
- BEST1 p.Leu224Met Likely pathogenic Single submitter
-
BEST1 p.Leu75Phe
Likely pathogenic
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Pro471Leu Likely pathogenic Single submitter
-
BEST1 p.Tyr227Phe
Likely pathogenic
Single submitter
inherited retinal dystrophy
-
BEST1 p.Tyr284Phe
Pathogenic
Single submitter
vitelliform macular dystrophy 2
-
BEST1 p.Tyr33Cys
Likely pathogenic
Single submitter
inherited retinal dystrophy
- BEST1 p.Val242Met Pathogenic Single submitter
- BEST1 p.Val253Ala Likely pathogenic Single submitter
-
BEST1 p.Ala226Thr
Likely pathogenic
No assertion criteria
inherited retinal dystrophy
-
BEST1 p.Asn99His
Likely pathogenic
No assertion criteria
vitelliform macular dystrophy 2
-
BEST1 p.Phe36Ile
Likely pathogenic
No assertion criteria
inherited retinal dystrophy
-
BEST1 p.Pro457Arg
Pathogenic
No assertion criteria
autosomal recessive bestrophinopathy
Predictors agree, ClinVar conflicts 22
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BEST1 p.Ala352Thr
Conflicting
Single submitter
retinitis pigmentosa
-
BEST1 p.Ala387Thr
Conflicting
Single submitter
Inborn genetic diseases
-
BEST1 p.Ala485Val
Conflicting
Single submitter
Inborn genetic diseases
-
BEST1 p.Arg105Gly
Conflicting
Single submitter
inherited retinal dystrophy
-
BEST1 p.Arg150Pro
Conflicting
Single submitter
inherited retinal dystrophy
-
BEST1 p.Arg331Gln
Conflicting
Single submitter
inherited retinal dystrophy
-
BEST1 p.Asn179Asp
Conflicting
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Asn190Tyr Conflicting Single submitter
- BEST1 p.Asn378Ser Conflicting Single submitter
-
BEST1 p.Asp228Asn
Conflicting
Single submitter
inherited retinal dystrophy
- BEST1 p.Glu213Lys Conflicting Single submitter
-
BEST1 p.Glu557Lys
Conflicting
Single submitter
retinitis pigmentosa
-
BEST1 p.Gly26Asp
Conflicting
Single submitter
inherited retinal dystrophy
- BEST1 p.Gly424Ala Conflicting Single submitter
-
BEST1 p.Leu319Pro
Conflicting
Single submitter
inherited retinal dystrophy
-
BEST1 p.Met325Thr
Conflicting
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Met524Thr Conflicting Single submitter
- BEST1 p.Pro101Thr Conflicting Single submitter
-
BEST1 p.Pro346His
Conflicting
Single submitter
inherited retinal dystrophy
-
BEST1 p.Ser507Pro
Conflicting
Single submitter
retinitis pigmentosa
-
BEST1 p.Thr565Ala
Conflicting
Single submitter
Inborn genetic diseases
-
BEST1 p.Tyr284Cys
Conflicting
Single submitter
Stargardt disease
Predictors lean, ClinVar uncertain 177
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 177
-
BEST1 p.Ala509Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Arg150Gly
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 2
-
BEST1 p.Arg150Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Arg461Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Asn550Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Asp384Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Asp543Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Gln397Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Glu383Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Glu423Lys
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
BEST1 p.Glu514Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BEST1 p.Glu525Ala Uncertain significance Multiple submitters
-
BEST1 p.Glu549Lys
Uncertain significance
Multiple submitters
BEST1-related dominant retinopathy
-
BEST1 p.His399Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BEST1 p.His584Gln Uncertain significance Multiple submitters
-
BEST1 p.Ile45Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BEST1 p.Leu106Phe Uncertain significance Multiple submitters
-
BEST1 p.Leu138His
Uncertain significance
Multiple submitters
BEST1-related disorder
-
BEST1 p.Leu174Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Leu67Pro
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 2
-
BEST1 p.Lys416Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Lys511Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BEST1 p.Met360Ile Uncertain significance Multiple submitters
-
BEST1 p.Met477Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Met524Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Pro476Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Pro486Leu
Uncertain significance
Multiple submitters
autosomal dominant vitreoretinochoroidopathy
-
BEST1 p.Ser108Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Thr250Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Trp187Gly
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Trp287Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 50
-
BEST1 p.Tyr148Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BEST1 p.Val450Met Uncertain significance Multiple submitters
- BEST1 p.Val505Leu Uncertain significance Multiple submitters
- BEST1 c.*1703C>G Uncertain significance Single submitter
- BEST1 p.Ala12Asp Uncertain significance Single submitter
-
BEST1 p.Ala444Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
BEST1 p.Ala444Thr
Uncertain significance
Single submitter
autosomal dominant vitreoretinochoroidopathy
- BEST1 p.Ala444Val Uncertain significance Single submitter
- BEST1 p.Ala452Thr Uncertain significance Single submitter
- BEST1 p.Ala467Asp Uncertain significance Single submitter
- BEST1 p.Arg125Trp Uncertain significance Single submitter
- BEST1 p.Arg150Cys Uncertain significance Single submitter
- BEST1 p.Arg150His Uncertain significance Single submitter
-
BEST1 p.Arg200Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Arg313Lys Uncertain significance Single submitter
- BEST1 p.Arg331Pro Uncertain significance Single submitter
- BEST1 p.Arg405Lys Uncertain significance Single submitter
- BEST1 p.Arg437Ser Uncertain significance Single submitter
-
BEST1 p.Arg461Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Asp270Ala Uncertain significance Single submitter
-
BEST1 p.Asp323Val
Uncertain significance
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Asp381Glu Uncertain significance Single submitter
- BEST1 p.Asp400His Uncertain significance Single submitter
- BEST1 p.Asp441Asn Uncertain significance Single submitter
- BEST1 p.Asp451Glu Uncertain significance Single submitter
- BEST1 p.Asp499Val Uncertain significance Single submitter
- BEST1 p.Asp520Asn Uncertain significance Single submitter
- BEST1 p.Asp520Glu Uncertain significance Single submitter
-
BEST1 p.Asp569Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BEST1 p.Gln434His
Uncertain significance
Single submitter
BEST1-related disorder
-
BEST1 p.Gln531Pro
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Glu213Val Uncertain significance Single submitter
-
BEST1 p.Glu35Asp
Uncertain significance
Single submitter
autosomal recessive bestrophinopathy
- BEST1 p.Glu380Asp Uncertain significance Single submitter
-
BEST1 p.Glu382Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Glu418Lys Uncertain significance Single submitter
- BEST1 p.Glu528Gln Uncertain significance Single submitter
-
BEST1 p.Glu528Gly
Uncertain significance
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Glu538Gln Uncertain significance Single submitter
- BEST1 p.Glu538Lys Uncertain significance Single submitter
- BEST1 p.Glu546Gln Uncertain significance Single submitter
- BEST1 p.Glu554Gln Uncertain significance Single submitter
- BEST1 p.Glu578Gly Uncertain significance Single submitter
- BEST1 p.Glu582Asp Uncertain significance Single submitter
- BEST1 p.Glu63Gln Uncertain significance Single submitter
-
BEST1 p.Gly112Ala
Uncertain significance
Single submitter
BEST1-related disorder
- BEST1 p.Gly112Ser Uncertain significance Single submitter
-
BEST1 p.Gly222Glu
Uncertain significance
Single submitter
inherited retinal dystrophy
-
BEST1 p.Gly286Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Gly395Arg Uncertain significance Single submitter
- BEST1 p.Gly424Val Uncertain significance Single submitter
- BEST1 p.Gly521Arg Uncertain significance Single submitter
- BEST1 p.Gly83Asp Uncertain significance Single submitter
- BEST1 p.His156Arg Uncertain significance Single submitter
- BEST1 p.His223Gln Uncertain significance Single submitter
- BEST1 p.His223Pro Uncertain significance Single submitter
-
BEST1 p.His386Pro
Uncertain significance
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.His402Gln Uncertain significance Single submitter
- BEST1 p.Ile129Leu Uncertain significance Single submitter
- BEST1 p.Ile232Val Uncertain significance Single submitter
- BEST1 p.Ile495Val Uncertain significance Single submitter
- BEST1 p.Ile49Thr Uncertain significance Single submitter
-
BEST1 p.Ile563Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Ile563Met Uncertain significance Single submitter
-
BEST1 p.Ile73Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Ile73Ser Uncertain significance Single submitter
-
BEST1 p.Ile73Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Ile78Thr Uncertain significance Single submitter
- BEST1 p.Leu100Pro Uncertain significance Single submitter
- BEST1 p.Leu109Pro Uncertain significance Single submitter
- BEST1 p.Leu14Ser Uncertain significance Single submitter
- BEST1 p.Leu197Ile Uncertain significance Single submitter
- BEST1 p.Leu207His Uncertain significance Single submitter
- BEST1 p.Leu217Phe Uncertain significance Single submitter
- BEST1 p.Leu271Pro Uncertain significance Single submitter
- BEST1 p.Leu279Pro Uncertain significance Single submitter
-
BEST1 p.Leu420Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Leu458Arg Uncertain significance Single submitter
- BEST1 p.Leu556Ser Uncertain significance Single submitter
- BEST1 p.Leu60Pro Uncertain significance Single submitter
- BEST1 p.Lys169Arg Uncertain significance Single submitter
- BEST1 p.Lys340Thr Uncertain significance Single submitter
- BEST1 p.Lys411Glu Uncertain significance Single submitter
- BEST1 p.Lys498Glu Uncertain significance Single submitter
-
BEST1 p.Lys498Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Lys500Glu Uncertain significance Single submitter
- BEST1 p.Lys510Arg Uncertain significance Single submitter
- BEST1 p.Lys553Gln Uncertain significance Single submitter
-
BEST1 p.Met180Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Met193Lys Uncertain significance Single submitter
-
BEST1 p.Met336Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Met524Arg Uncertain significance Single submitter
- BEST1 p.Met544Ile Uncertain significance Single submitter
- BEST1 p.Met544Thr Uncertain significance Single submitter
- BEST1 p.Met571Thr Uncertain significance Single submitter
- BEST1 p.Phe17Leu Uncertain significance Single submitter
- BEST1 p.Phe248Leu Uncertain significance Single submitter
- BEST1 p.Phe276Leu Uncertain significance Single submitter
- BEST1 p.Phe283Leu Uncertain significance Single submitter
- BEST1 p.Phe283Ser Uncertain significance Single submitter
-
BEST1 p.Phe283Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
BEST1 p.Phe354Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Phe84Val Uncertain significance Single submitter
- BEST1 p.Pro404Leu Uncertain significance Single submitter
-
BEST1 p.Pro555Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Pro560Thr Uncertain significance Single submitter
-
BEST1 p.Pro573Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BEST1 p.Pro77Thr
Uncertain significance
Single submitter
retinitis pigmentosa
-
BEST1 p.Ser153Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Ser209Asn Uncertain significance Single submitter
- BEST1 p.Ser209Thr Uncertain significance Single submitter
- BEST1 p.Ser318Tyr Uncertain significance Single submitter
- BEST1 p.Ser484Pro Uncertain significance Single submitter
-
BEST1 p.Ser491Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Ser519Arg Uncertain significance Single submitter
- BEST1 p.Ser79Tyr Uncertain significance Single submitter
- BEST1 p.Thr219Pro Uncertain significance Single submitter
-
BEST1 p.Thr363Pro
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Thr410Ile Uncertain significance Single submitter
Predictors split 117
The independent predictors disagree with each other — read with care.
-
BEST1 p.Ala12Gly
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 2
-
BEST1 p.Ala195Val
Pathogenic/Likely pathogenic
Multiple submitters
BEST1-related dominant retinopathy
-
BEST1 p.Arg141His
Pathogenic/Likely pathogenic
Multiple submitters
BEST1-related dominant retinopathy
-
BEST1 p.Arg218His
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Arg355Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Arg355His
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
BEST1 p.Arg356Gln
Uncertain significance
Multiple submitters
cone-rod dystrophy 6
-
BEST1 p.Arg356Leu
Uncertain significance
Multiple submitters
autosomal dominant vitreoretinochoroidopathy
-
BEST1 p.Arg392Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Asn11Lys
Likely pathogenic
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Asn133His Likely pathogenic Multiple submitters
-
BEST1 p.Asn99Lys
Pathogenic
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Asp323Glu
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 2
-
BEST1 p.Gln74Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Glu172Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Glu300Asp
Pathogenic
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Glu57Asp Uncertain significance Multiple submitters
-
BEST1 p.Gly121Ala
Uncertain significance
Multiple submitters
retinitis pigmentosa 50
- BEST1 p.Gly266Asp Uncertain significance Multiple submitters
- BEST1 p.His402Tyr Uncertain significance Multiple submitters
- BEST1 p.Leu124Gln Uncertain significance Multiple submitters
-
BEST1 p.Leu271Ile
Uncertain significance
Multiple submitters
vitelliform macular dystrophy 2
-
BEST1 p.Leu41Pro
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Met107Ile Uncertain significance Multiple submitters
-
BEST1 p.Phe375Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BEST1 p.Pro165Leu Uncertain significance Multiple submitters
- BEST1 p.Pro204Arg Uncertain significance Multiple submitters
-
BEST1 p.Pro474Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Ser398Phe
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
BEST1 p.Ser7Asn
Uncertain significance
Multiple submitters
BEST1-related dominant retinopathy
-
BEST1 p.Thr307Asn
Pathogenic/Likely pathogenic
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Thr470Met Uncertain significance Multiple submitters
- BEST1 p.Thr91Ile Pathogenic Multiple submitters
-
BEST1 p.Tyr227Cys
Pathogenic/Likely pathogenic
Multiple submitters
vitelliform macular dystrophy 2
-
BEST1 p.Val137Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BEST1 p.Val272Ala
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- BEST1 p.Ala12Val Uncertain significance Single submitter
- BEST1 p.Ala146Ser Uncertain significance Single submitter
- BEST1 p.Ala146Thr Uncertain significance Single submitter
- BEST1 p.Ala263Thr Uncertain significance Single submitter
- BEST1 p.Ala350Thr Uncertain significance Single submitter
-
BEST1 p.Ala357Val
Conflicting
Single submitter
retinitis pigmentosa
- BEST1 p.Arg105Cys Uncertain significance Single submitter
-
BEST1 p.Arg19Cys
Conflicting
Single submitter
inherited retinal dystrophy
-
BEST1 p.Arg19His
Conflicting
Single submitter
retinitis pigmentosa 50
-
BEST1 p.Arg200Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
-
BEST1 p.Arg255Gln
Uncertain significance
Single submitter
autosomal recessive bestrophinopathy
-
BEST1 p.Arg331Trp
Conflicting
Single submitter
retinitis pigmentosa
- BEST1 p.Arg355Gly Uncertain significance Single submitter
- BEST1 p.Arg356Gly Uncertain significance Single submitter
- BEST1 p.Arg392His Uncertain significance Single submitter
- BEST1 p.Arg47Leu Likely pathogenic Single submitter
- BEST1 p.Arg51Lys Uncertain significance Single submitter
-
BEST1 p.Arg580Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Asn133Ser Uncertain significance Single submitter
-
BEST1 p.Asn314His
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Asn99Asp Pathogenic Single submitter
- BEST1 p.Asp118Asn Uncertain significance Single submitter
- BEST1 p.Gln155Arg Uncertain significance Single submitter
- BEST1 p.Gln220Leu Uncertain significance Single submitter
-
BEST1 p.Gln58Leu
Likely pathogenic
Single submitter
inherited retinal dystrophy
- BEST1 p.Glu115Lys Uncertain significance Single submitter
-
BEST1 p.Glu119Gln
Conflicting
Single submitter
inherited retinal dystrophy
- BEST1 p.Glu119Lys Uncertain significance Single submitter
-
BEST1 p.Glu172Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Glu268Asp Uncertain significance Single submitter
-
BEST1 p.Glu342Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Glu382Lys Uncertain significance Single submitter
- BEST1 p.Glu383Gln Uncertain significance Single submitter
- BEST1 p.Gly199Asp Uncertain significance Single submitter
- BEST1 p.Gly388Asp Uncertain significance Single submitter
- BEST1 p.His156Tyr Uncertain significance Single submitter
- BEST1 p.Ile28Leu Uncertain significance Single submitter
- BEST1 p.Ile310Val Uncertain significance Single submitter
- BEST1 p.Ile38Ser Conflicting Single submitter
-
BEST1 p.Ile390Thr
Conflicting
Single submitter
BEST1-related disorder
- BEST1 p.Ile3Met Likely pathogenic Single submitter
- BEST1 p.Ile46Thr Uncertain significance Single submitter
-
BEST1 p.Ile73Asn
Pathogenic
Single submitter
vitelliform macular dystrophy 2
-
BEST1 p.Leu140Val
Conflicting
Single submitter
autosomal recessive bestrophinopathy
- BEST1 p.Leu14Val Uncertain significance Single submitter
- BEST1 p.Leu315Val Uncertain significance Single submitter
-
BEST1 p.Leu31Met
Likely pathogenic
Single submitter
inherited retinal dystrophy
- BEST1 p.Leu329Pro Uncertain significance Single submitter
- BEST1 p.Leu502Phe Uncertain significance Single submitter
- BEST1 p.Leu556Phe Uncertain significance Single submitter
- BEST1 p.Met336Arg Uncertain significance Single submitter
- BEST1 p.Met373Thr Uncertain significance Single submitter
-
BEST1 p.Phe282Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- BEST1 p.Phe453Ser Uncertain significance Single submitter
-
BEST1 p.Pro177Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- BEST1 p.Pro334Leu Uncertain significance Single submitter
- BEST1 p.Pro345Ala Uncertain significance Single submitter
- BEST1 p.Pro346Ala Uncertain significance Single submitter
-
BEST1 p.Ser231Gly
Conflicting
Single submitter
autosomal recessive bestrophinopathy
- BEST1 p.Ser455Cys Uncertain significance Single submitter
- BEST1 p.Ser466Gly Uncertain significance Single submitter
- BEST1 p.Ser512Asn Uncertain significance Single submitter
- BEST1 p.Ser512Ile Uncertain significance Single submitter
- BEST1 p.Ser585Tyr Uncertain significance Single submitter
- BEST1 p.Thr216Ile Uncertain significance Single submitter
- BEST1 p.Thr250Ile Uncertain significance Single submitter
- BEST1 p.Thr542Met Uncertain significance Single submitter
- BEST1 p.Thr55Met Uncertain significance Single submitter
- BEST1 p.Thr87Ala Uncertain significance Single submitter
- BEST1 p.Trp196Cys Uncertain significance Single submitter
-
BEST1 p.Tyr33His
Conflicting
Single submitter
inherited retinal dystrophy
-
BEST1 p.Tyr33Phe
Uncertain significance
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Tyr72Asp Uncertain significance Single submitter
- BEST1 p.Tyr72Cys Uncertain significance Single submitter
- BEST1 p.Val137Ala Uncertain significance Single submitter
-
BEST1 p.Val143Leu
Conflicting
Single submitter
vitelliform macular dystrophy 2
- BEST1 p.Val90Met Uncertain significance Single submitter
-
BEST1 p.Leu20Val
Pathogenic
No assertion criteria
vitelliform macular dystrophy 2
-
BEST1 p.Pro468Gln
Likely pathogenic
No assertion criteria
inherited retinal dystrophy
-
BEST1 p.Tyr68Cys
Likely pathogenic
No assertion criteria
inherited retinal dystrophy
-
BEST1 p.Val285Ile
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All BEST1 variants
Pathogenic 138
- c.636+1G>A Multiple submitters autosomal recessive bestrophinopathy
- p.Ala10Thr Multiple submitters inherited retinal dystrophy
- p.Ala243Thr Multiple submitters inherited retinal dystrophy
- p.Arg200Ter Multiple submitters autosomal dominant vitreoretinochoroidopathy
- p.Arg92Cys Multiple submitters
- p.Asn296Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Asn99Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Asp301Asn Multiple submitters inherited retinal dystrophy
- p.Asp301Glu Multiple submitters inherited retinal dystrophy
- p.Asp302Ala Multiple submitters inherited retinal dystrophy
- p.Asp302His Multiple submitters inherited retinal dystrophy
- p.Gln293Lys Multiple submitters inherited retinal dystrophy
- p.Gln439Ter Multiple submitters vitelliform macular dystrophy 2
- p.Gln96Arg Multiple submitters inherited retinal dystrophy
- p.Glu300Asp Multiple submitters inherited retinal dystrophy ⚠
- p.Glu300Lys Multiple submitters inherited retinal dystrophy
- p.Glu374fs Multiple submitters inherited retinal dystrophy
- p.Gly112fs Multiple submitters
- p.Gly299Glu Multiple submitters inherited retinal dystrophy
- p.His490fs Multiple submitters inherited retinal dystrophy
- p.Leu41fs Multiple submitters
- p.Leu67fs Multiple submitters inherited retinal dystrophy
- p.Pro152Ala Multiple submitters
- p.Pro260fs Multiple submitters inherited retinal dystrophy
- p.Pro468Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Ser175fs Multiple submitters inherited retinal dystrophy
- p.Thr91Ile Multiple submitters ⚠
- p.Trp287Ter Multiple submitters BEST1-related disorder
- p.Tyr227Asn Multiple submitters inherited retinal dystrophy
- p.Tyr85His Multiple submitters inherited retinal dystrophy
- p.Val235Leu Multiple submitters
- p.Val86Met Multiple submitters inherited retinal dystrophy
- c.481+1G>T Single submitter autosomal recessive bestrophinopathy
- c.636+1G>T Single submitter
- c.868-1G>A Single submitter
- c.868-2A>G Single submitter
- c.948+1del Single submitter autosomal recessive bestrophinopathy
- p.Ala10Val Single submitter vitelliform macular dystrophy 2
- p.Arg218Gly Single submitter
- p.Arg25Leu Single submitter
- p.Arg356Ter Single submitter vitelliform macular dystrophy 2
- p.Arg392fs Single submitter
- p.Arg92His Single submitter
- p.Asn133fs Single submitter
- p.Asn133Lys Single submitter
- p.Asn296Asp Single submitter
- p.Asn296His Single submitter
- p.Asn314fs Single submitter inherited retinal dystrophy
- p.Asn99Asp Single submitter ⚠
- p.Asn99Tyr Single submitter ⚠
- p.Asp104His Single submitter
- p.Asp301Gly Single submitter
- p.Asp302Val Single submitter
- p.Asp303Glu Single submitter
- p.Asp303Gly Single submitter inherited retinal dystrophy
- p.Asp303Val Single submitter autosomal dominant vitreoretinochoroidopathy
- p.Asp312Glu Single submitter vitelliform macular dystrophy 2
- p.Asp70delinsTyrIleGlnLeuIleProIleSerAlaThrSerProTer Single submitter
- p.Cys221Trp Single submitter
- p.Gln159Ter Single submitter
- p.Gln344Ter Single submitter Stargardt disease
- p.Gln58fs Single submitter vitelliform macular dystrophy 2
- p.Gln96His Single submitter
- p.Gln96Leu Single submitter
- p.Glu306Asp Single submitter
- p.Glu306Gln Single submitter
- p.Glu306Gly Single submitter
- p.Glu324Ter Single submitter
- p.Glu440fs Single submitter
- p.Glu98Asp Single submitter vitelliform macular dystrophy 2 ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly135Asp Single submitter vitelliform macular dystrophy 2
- p.Gly299Arg Single submitter
- p.Ile205Thr Single submitter retinitis pigmentosa 50 ⚠
- p.Ile230Thr Single submitter
- p.Ile295Leu Single submitter ⚠
- p.Ile3Asn Single submitter
- p.Ile73Asn Single submitter vitelliform macular dystrophy 2 ⚠
- p.Ile76Asn Single submitter
- p.Ile76Thr Single submitter
- p.Leu140Pro Single submitter inherited retinal dystrophy
- p.Leu197fs Single submitter inherited retinal dystrophy
- p.Leu224Arg Single submitter
- p.Leu224Pro Single submitter
- p.Leu234Arg Single submitter
- p.Leu294Phe Single submitter inherited retinal dystrophy
- p.Leu31fs Single submitter
- p.Leu75Pro Single submitter
- p.Leu82Val Single submitter
- p.Lys194delinsHisTer Single submitter
- p.Lys64Ter Single submitter
- p.Met1Val Single submitter
- p.Met332fs Single submitter
- p.Met61fs Single submitter
- p.Phe17Ser Single submitter
- p.Phe281Ter Single submitter
- p.Phe80Leu Single submitter
- p.Pro184fs Single submitter autosomal recessive bestrophinopathy
- p.Pro233fs Single submitter autosomal recessive bestrophinopathy
- p.Pro233Leu Single submitter
- p.Pro297Ala Single submitter
- p.Pro297His Single submitter
- p.Ser144Gly Single submitter
- p.Ser16Phe Single submitter
- p.Ser16Tyr Single submitter
- p.Ser192Ter Single submitter
- p.Ser246Asn Single submitter vitelliform macular dystrophy 2
- p.Ser27Arg Single submitter inherited retinal dystrophy
- p.Ser501fs Single submitter
- p.Ser512fs Single submitter
- p.Thr237Arg Single submitter inherited retinal dystrophy
- p.Trp102Arg Single submitter inherited retinal dystrophy
- p.Trp414Ter Single submitter autosomal recessive bestrophinopathy
- p.Trp93Cys Single submitter inherited retinal dystrophy
- p.Tyr284fs Single submitter
- p.Tyr284Phe Single submitter vitelliform macular dystrophy 2 ⚠
- p.Tyr29His Single submitter
- p.Tyr29Ter Single submitter vitelliform macular dystrophy 2
- p.Val143Phe Single submitter
- p.Val242fs Single submitter
- p.Val242Met Single submitter ⚠
- p.Val81Leu Single submitter
- p.Val9Ala Single submitter
- p.Val9Met Single submitter inherited retinal dystrophy
- c.153-2_158del No assertion criteria inherited retinal dystrophy
- c.948+1G>A No assertion criteria inherited retinal dystrophy
- p.Asp302Asn No assertion criteria vitelliform macular dystrophy 2
- p.Asp304Asn No assertion criteria vitelliform macular dystrophy 2
- p.Glu119fs No assertion criteria inherited retinal dystrophy
- p.Glu324fs No assertion criteria BEST1-related disorder
- p.Leu20Val No assertion criteria vitelliform macular dystrophy 2 ⚠
- p.Met373fs No assertion criteria inherited retinal dystrophy
- p.Pro457Arg No assertion criteria autosomal recessive bestrophinopathy ⚠
- p.Ser144Arg No assertion criteria inherited retinal dystrophy
- p.Thr66fs No assertion criteria inherited retinal dystrophy
- p.Thr6Pro No assertion criteria vitelliform macular dystrophy 2
- p.Val235Ala No assertion criteria autosomal dominant vitreoretinochoroidopathy
- p.Val317Met No assertion criteria autosomal recessive bestrophinopathy
Pathogenic/Likely pathogenic 81
- c.1100+1_1100+10del Multiple submitters inherited retinal dystrophy
- c.1100+1G>C Multiple submitters
- c.247+2del Multiple submitters isolated macular dystrophy
- c.867+97G>A Multiple submitters autosomal recessive bestrophinopathy
- p.Ala146Lys Multiple submitters vitelliform macular dystrophy 2
- p.Ala195Val Multiple submitters BEST1-related dominant retinopathy ⚠
- p.Ala243Val Multiple submitters Autosomal dominant BEST1-related disorders
- p.Arg105Ser Multiple submitters autosomal recessive bestrophinopathy
- p.Arg130Ser Multiple submitters autosomal recessive bestrophinopathy
- p.Arg13Cys Multiple submitters Macular dystrophy ⚠
- p.Arg13Gly Multiple submitters isolated macular dystrophy ⚠
- p.Arg13His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg141His Multiple submitters BEST1-related dominant retinopathy ⚠
- p.Arg141Ser Multiple submitters inherited retinal dystrophy
- p.Arg202Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Arg218Cys Multiple submitters autosomal dominant vitreoretinochoroidopathy
- p.Arg218His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg255Trp Multiple submitters vitelliform macular dystrophy 2
- p.Arg25Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg25Trp Multiple submitters inherited retinal dystrophy
- p.Arg47Cys Multiple submitters ⚠
- p.Arg47His Multiple submitters autosomal dominant vitreoretinochoroidopathy ⚠
- p.Arg92Ser Multiple submitters inherited retinal dystrophy
- p.Asp312Asn Multiple submitters inherited retinal dystrophy
- p.Gln170Ter Multiple submitters vitelliform macular dystrophy 2
- p.Gln220Ter Multiple submitters autosomal recessive bestrophinopathy
- p.Gln238Arg Multiple submitters inherited retinal dystrophy
- p.Gln238fs Multiple submitters vitelliform macular dystrophy 2
- p.Gln293His Multiple submitters BEST1-related disorder
- p.Gln96Glu Multiple submitters inherited retinal dystrophy
- p.Glu213Gly Multiple submitters autosomal recessive bestrophinopathy
- p.Glu292Lys Multiple submitters inherited retinal dystrophy
- p.Glu35Lys Multiple submitters inherited retinal dystrophy
- p.Glu482fs Multiple submitters severe early-childhood-onset retinal dystrophy
- p.Glu518Ter Multiple submitters vitelliform macular dystrophy 2
- p.Gly15Asp Multiple submitters inherited retinal dystrophy
- p.Gly222Val Multiple submitters vitelliform macular dystrophy 2
- p.Gly34= Multiple submitters inherited retinal dystrophy
- p.His526delinsProTer Multiple submitters Stargardt disease
- p.Ile201Thr Multiple submitters BEST1-related disorder
- p.Ile295del Multiple submitters inherited retinal dystrophy
- p.Ile295Thr Multiple submitters inherited retinal dystrophy
- p.Ile295Val Multiple submitters ⚠
- p.Ile310Thr Multiple submitters inherited retinal dystrophy
- p.Leu134Val Multiple submitters inherited retinal dystrophy ⚠
- p.Leu21Arg Multiple submitters inherited retinal dystrophy
- p.Leu21Val Multiple submitters vitelliform macular dystrophy 2
- p.Leu32Pro Multiple submitters Stargardt disease
- p.Leu41Pro Multiple submitters inherited retinal dystrophy ⚠
- p.Leu472fs Multiple submitters autosomal dominant vitreoretinochoroidopathy
- p.Lys30Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Phe298Ser Multiple submitters inherited retinal dystrophy
- p.Phe305Leu Multiple submitters vitelliform macular dystrophy 2
- p.Phe305Ser Multiple submitters inherited retinal dystrophy
- p.Pro101Leu Multiple submitters vitelliform macular dystrophy 2
- p.Pro152Ser Multiple submitters autosomal recessive bestrophinopathy
- p.Pro274Arg Multiple submitters retinal disorder
- p.Pro297Ser Multiple submitters BEST1-related dominant retinopathy
- p.Ser142_Val143insSer Multiple submitters BEST1-related disorder
- p.Ser144Asn Multiple submitters inherited retinal dystrophy
- p.Ser27Gly Multiple submitters vitelliform macular dystrophy 2
- p.Ser517Ter Multiple submitters inherited retinal dystrophy
- p.Thr237Ser Multiple submitters vitelliform macular dystrophy 2
- p.Thr241Asn Multiple submitters inherited retinal dystrophy
- p.Thr277Met Multiple submitters inherited retinal dystrophy
- p.Thr2Ser Multiple submitters inherited retinal dystrophy
- p.Thr307Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Thr307Ile Multiple submitters inherited retinal dystrophy ⚠
- p.Thr4Ile Multiple submitters Macular dystrophy
- p.Thr6Ala Multiple submitters inherited retinal dystrophy ⚠
- p.Thr6Arg Multiple submitters inherited retinal dystrophy
- p.Thr6Lys Multiple submitters inherited retinal dystrophy
- p.Trp24Cys Multiple submitters inherited retinal dystrophy
- p.Trp24Ter Multiple submitters inherited retinal dystrophy
- p.Trp309Arg Multiple submitters inherited retinal dystrophy
- p.Trp93Arg Multiple submitters inherited retinal dystrophy
- p.Tyr227Cys Multiple submitters vitelliform macular dystrophy 2 ⚠
- p.Val311Gly Multiple submitters inherited retinal dystrophy
- p.Val505fs Multiple submitters inherited retinal dystrophy
- p.Val81Met Multiple submitters inherited retinal dystrophy
- p.Val9Leu Multiple submitters inherited retinal dystrophy
Likely pathogenic 106
- p.Arg122Pro Multiple submitters autosomal recessive bestrophinopathy
- p.Arg218Ser Multiple submitters inherited retinal dystrophy
- p.Asn11Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Asn133His Multiple submitters ⚠
- p.Asn296Lys Multiple submitters inherited retinal dystrophy
- p.Asp228His Multiple submitters autosomal dominant vitreoretinochoroidopathy
- p.Asp302Glu Multiple submitters BEST1-related disorder
- p.Asp304del Multiple submitters
- p.Gln96_Asn99del Multiple submitters vitelliform macular dystrophy 2
- p.Glu98Gly Multiple submitters vitelliform macular dystrophy 2 ⚠
- p.Leu100Arg Multiple submitters inherited retinal dystrophy
- p.Leu191Pro Multiple submitters
- p.Leu224Gln Multiple submitters
- p.Phe80Ile Multiple submitters
- p.Pro101Arg Multiple submitters inherited retinal dystrophy
- p.Thr307Ala Multiple submitters ⚠
- p.Tyr29Cys Multiple submitters vitelliform macular dystrophy 2
- p.Val143Ala Multiple submitters inherited retinal dystrophy
- c.1101-1G>C Single submitter
- c.1101-491A>G Single submitter autosomal recessive bestrophinopathy
- c.248-1G>A Single submitter
- c.248-2A>G Single submitter inherited retinal dystrophy
- c.943_948+26del Single submitter
- c.948+1_948+2delinsTA Single submitter
- c.949-5_951del Single submitter
- c.-37+1G>T Single submitter autosomal recessive bestrophinopathy
- c.-37+5G>A Single submitter
- p.Arg122Trp Single submitter vitelliform macular dystrophy 2
- p.Arg130Cys Single submitter
- p.Arg13Pro Single submitter
- p.Arg202Gln Single submitter ⚠
- p.Arg218Leu Single submitter
- p.Arg255Leu Single submitter
- p.Arg47Leu Single submitter ⚠
- p.Asn11Ser Single submitter ⚠
- p.Asn95Tyr Single submitter vitelliform macular dystrophy 2 ⚠
- p.Asp118His Single submitter inherited retinal dystrophy
- p.Asp228Glu Single submitter autosomal dominant vitreoretinochoroidopathy
- p.Asp301His Single submitter vitelliform macular dystrophy 2
- p.Asp302Gly Single submitter
- p.Asp303Tyr Single submitter vitelliform macular dystrophy 2
- p.Asp304Glu Single submitter
- p.Gln256Arg Single submitter
- p.Gln58Glu Single submitter vitelliform macular dystrophy 2 ⚠
- p.Gln58Leu Single submitter inherited retinal dystrophy ⚠
- p.Glu292Gln Single submitter vitelliform macular dystrophy 2
- p.Glu538Ter Single submitter inherited retinal dystrophy
- p.Glu57Ter Single submitter inherited retinal dystrophy
- p.Gly135Ser Single submitter ⚠
- p.Gly26Ser Single submitter
- p.Gly299Val Single submitter
- p.Ile232Asn Single submitter inherited retinal dystrophy
- p.Ile3Met Single submitter ⚠
- p.Ile76Phe Single submitter
- p.Ile76Val Single submitter
- p.Leu134Pro Single submitter
- p.Leu20Pro Single submitter
- p.Leu21Gln Single submitter
- p.Leu224Met Single submitter ⚠
- p.Leu234Gln Single submitter
- p.Leu234Val Single submitter inherited retinal dystrophy
- p.Leu294Val Single submitter retinal disorder
- p.Leu31Arg Single submitter
- p.Leu31Met Single submitter inherited retinal dystrophy ⚠
- p.Leu75Phe Single submitter vitelliform macular dystrophy 2 ⚠
- p.Lys30Asn Single submitter retinal disorder
- p.Lys30Glu Single submitter vitelliform macular dystrophy 2
- p.Met163Arg Single submitter autosomal dominant vitreoretinochoroidopathy
- p.Phe17Ile Single submitter
- p.Phe17Tyr Single submitter
- p.Phe80Val Single submitter
- p.Pro274His Single submitter
- p.Pro471Leu Single submitter ⚠
- p.Ser16Pro Single submitter
- p.Ser231Arg Single submitter
- p.Ser27Asn Single submitter
- p.Ser27Thr Single submitter inherited retinal dystrophy
- p.Thr237Lys Single submitter
- p.Thr504fs Single submitter
- p.Thr6Ile Single submitter inherited retinal dystrophy
- p.Trp24Arg Single submitter autosomal recessive bestrophinopathy
- p.Trp338Ter Single submitter autosomal recessive bestrophinopathy
- p.Trp93Leu Single submitter
- p.Tyr227Phe Single submitter inherited retinal dystrophy ⚠
- p.Tyr284His Single submitter
- p.Tyr33Cys Single submitter inherited retinal dystrophy ⚠
- p.Val239Met Single submitter microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
- p.Val242Ala Single submitter
- p.Val253Ala Single submitter ⚠
- p.Val81Gly Single submitter
- p.Val86Ala Single submitter
- p.Val86Glu Single submitter
- p.Val89fs Single submitter
- p.Val9Gly Single submitter vitelliform macular dystrophy 2
- c.(?_-1 No assertion criteria inherited retinal dystrophy
- p.Ala226Thr No assertion criteria inherited retinal dystrophy ⚠
- p.Arg313Ser No assertion criteria inherited retinal dystrophy
- p.Arg92Leu No assertion criteria autosomal recessive bestrophinopathy
- p.Asn99His No assertion criteria vitelliform macular dystrophy 2 ⚠
- p.Asp384fs No assertion criteria BEST1-related disorder
- p.Ile232Ser No assertion criteria autosomal recessive bestrophinopathy
- p.Phe36Ile No assertion criteria inherited retinal dystrophy ⚠
- p.Pro468Gln No assertion criteria inherited retinal dystrophy ⚠
- p.Ser506fs No assertion criteria retinitis pigmentosa 40
- p.Tyr68Cys No assertion criteria inherited retinal dystrophy ⚠
- p.Val235Gly No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 49
- c.152+6G>T Single submitter vitelliform macular dystrophy 2
- c.1740-2A>G Single submitter inherited retinal dystrophy
- c.482-15C>T Single submitter retinitis pigmentosa
- c.637-6C>T Single submitter retinitis pigmentosa
- c.*24C>T Single submitter retinitis pigmentosa
- c.*45T>C Single submitter retinitis pigmentosa
- p.Ala352Thr Single submitter retinitis pigmentosa ⚠
- p.Ala357Val Single submitter retinitis pigmentosa ⚠
- p.Ala387Thr Single submitter Inborn genetic diseases ⚠
- p.Ala485Val Single submitter Inborn genetic diseases ⚠
- p.Arg105Gly Single submitter inherited retinal dystrophy ⚠
- p.Arg150Pro Single submitter inherited retinal dystrophy ⚠
- p.Arg19Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg19His Single submitter retinitis pigmentosa 50 ⚠
- p.Arg331Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg331Trp Single submitter retinitis pigmentosa ⚠
- p.Asn179Asp Single submitter vitelliform macular dystrophy 2 ⚠
- p.Asn179del Single submitter inherited retinal dystrophy
- p.Asn190Tyr Single submitter ⚠
- p.Asn378Ser Single submitter ⚠
- p.Asp228Asn Single submitter inherited retinal dystrophy ⚠
- p.Asp381= Single submitter retinitis pigmentosa
- p.Gln208= Single submitter inherited retinal dystrophy
- p.Glu119Gln Single submitter inherited retinal dystrophy ⚠
- p.Glu213Lys Single submitter ⚠
- p.Glu557Lys Single submitter retinitis pigmentosa ⚠
- p.Gly26Asp Single submitter inherited retinal dystrophy ⚠
- p.Gly424Ala Single submitter ⚠
- p.Ile38Ser Single submitter ⚠
- p.Ile390Thr Single submitter BEST1-related disorder ⚠
- p.Leu140Val Single submitter autosomal recessive bestrophinopathy ⚠
- p.Leu271= Single submitter vitelliform macular dystrophy 2
- p.Leu319Pro Single submitter inherited retinal dystrophy ⚠
- p.Leu541fs Single submitter autosomal recessive bestrophinopathy
- p.Met325Thr Single submitter vitelliform macular dystrophy 2 ⚠
- p.Met524Thr Single submitter ⚠
- p.Phe283del Single submitter inherited retinal dystrophy
- p.Pro101Thr Single submitter ⚠
- p.Pro165= Single submitter retinitis pigmentosa
- p.Pro233= Single submitter autosomal dominant vitreoretinochoroidopathy
- p.Pro274= Single submitter retinitis pigmentosa
- p.Pro346His Single submitter inherited retinal dystrophy ⚠
- p.Ser231Gly Single submitter autosomal recessive bestrophinopathy ⚠
- p.Ser318= Single submitter vitelliform macular dystrophy 2
- p.Ser507Pro Single submitter retinitis pigmentosa ⚠
- p.Thr565Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr284Cys Single submitter Stargardt disease ⚠
- p.Tyr33His Single submitter inherited retinal dystrophy ⚠
- p.Val143Leu Single submitter vitelliform macular dystrophy 2 ⚠
Benign 53
- c.1100+276G>A Multiple submitters
- c.153-14A>C Multiple submitters
- c.153-22CCACCC[2] Multiple submitters
- c.1739+188T>C Multiple submitters inherited retinal dystrophy
- c.1739+49C>A Multiple submitters
- c.1739+62G>T Multiple submitters
- c.1740-42G>T Multiple submitters
- c.247+165T>A Multiple submitters
- c.481+133A>G Multiple submitters
- c.481+210C>T Multiple submitters
- c.481+280A>T Multiple submitters
- c.482-24C>T Multiple submitters
- c.636+44C>T Multiple submitters vitelliform macular dystrophy 2
- c.714+71T>A Multiple submitters
- c.867+327T>G Multiple submitters vitelliform macular dystrophy 2
- c.868-17C>A Multiple submitters
- c.868-99G>T Multiple submitters vitelliform macular dystrophy 2
- c.-221T>C Multiple submitters
- c.-329C>T Multiple submitters
- p.Ile232= Multiple submitters retinitis pigmentosa
- p.Ile73= Multiple submitters autosomal recessive bestrophinopathy
- p.Leu37= Multiple submitters inherited retinal dystrophy
- p.Leu67= Multiple submitters retinitis pigmentosa
- p.Ser519= Multiple submitters inherited retinal dystrophy
- p.Thr470= Multiple submitters inherited retinal dystrophy
- p.Thr536= Multiple submitters inherited retinal dystrophy
- c.1740-250_1740-249dup Single submitter
- c.1740-98del Single submitter
- c.1740-98dup Single submitter
- c.247+12del Single submitter
- c.482-313C>T Single submitter
- c.636+113T>G Single submitter
- c.636+181C>A Single submitter
- c.637-18C>G Single submitter
- c.637-3dup Single submitter
- c.714+13C>T Single submitter
- c.714+238T>C Single submitter
- c.714+239G>A Single submitter
- c.714+68_714+70del Single submitter
- c.714+69_714+70insCACCTA Single submitter
- c.715-12_715-11insTCCTCCTCC Single submitter
- c.715-120A>G Single submitter
- c.715-173CAAA[8] Single submitter
- c.715-173CAAA[9] Single submitter
- c.715-18_715-17insTCCTCCTCC Single submitter
- c.-36-173T>C Single submitter
- c.-36-217G>A Single submitter
- c.-37+137G>A Single submitter
- p.Leu207Ile Single submitter
- c.153-22CCACCC[4] No assertion criteria BEST1-related disorder
- c.1739+37C>T No assertion criteria BEST1-related disorder
- c.1739+74C>A No assertion criteria BEST1-related disorder
- c.867+131G>A No assertion criteria BEST1-related disorder
Benign/Likely benign 6
- c.715-18TCC[8] Multiple submitters
- c.*133T>C Multiple submitters retinitis pigmentosa
- p.Leu206= Multiple submitters retinitis pigmentosa
- p.Pro341= Multiple submitters retinitis pigmentosa
- p.Ser71= Multiple submitters retinitis pigmentosa
- p.Val492Ile Multiple submitters retinitis pigmentosa
Likely benign 184
- c.1100+232C>A Multiple submitters
- c.1739+189C>T Multiple submitters
- c.1739+190G>A Multiple submitters inherited retinal dystrophy
- c.247+18G>C Multiple submitters
- c.248-231C>T Multiple submitters
- c.714+138T>C Multiple submitters
- c.868-253G>A Multiple submitters
- p.Arg405= Multiple submitters inherited retinal dystrophy
- p.Leu567Phe Multiple submitters retinitis pigmentosa
- p.Leu82= Multiple submitters
- p.Tyr44= Multiple submitters
- c.1100+12G>A Single submitter
- c.1100+17G>A Single submitter
- c.1100+18G>A Single submitter
- c.1100+7C>A Single submitter
- c.1100+83T>C Single submitter
- c.1101-14C>A Single submitter
- c.1101-20C>A Single submitter
- c.1101-7T>C Single submitter
- c.152+15G>A Single submitter
- c.152+7C>T Single submitter
- c.153-135G>C Single submitter
- c.153-13C>A Single submitter
- c.153-18C>A Single submitter
- c.153-75C>T Single submitter
- c.153-9C>G Single submitter
- c.1739+120T>C Single submitter inherited retinal dystrophy
- c.1739+139G>A Single submitter
- c.1739+13C>T Single submitter
- c.1739+14del Single submitter
- c.1739+181G>C Single submitter
- c.1739+19C>A Single submitter
- c.1739+223G>A Single submitter
- c.1740-18_1740-17del Single submitter
- c.1740-18T>C Single submitter
- c.247+10C>A Single submitter
- c.247+10C>G Single submitter
- c.247+18G>A Single submitter
- c.247+20T>A Single submitter
- c.248-17C>T Single submitter
- c.248-18C>G Single submitter
- c.248-20C>A Single submitter
- c.248-6G>A Single submitter
- c.481+11C>A Single submitter
- c.481+11C>T Single submitter
- c.481+12G>C Single submitter
- c.481+15A>G Single submitter
- c.481+20C>T Single submitter
- c.481+211dup Single submitter
- c.481+7_481+28del Single submitter
- c.636+18A>C Single submitter
- c.636+9A>G Single submitter
- c.636+9A>T Single submitter
- c.637-17C>T Single submitter
- c.637-19C>T Single submitter
- c.637-5C>G Single submitter
- c.714+11G>C Single submitter
- c.714+17T>C Single submitter
- c.715-10_715-9insACCTCCTCC Single submitter
- c.715-11_715-10insGTCCTCCTC Single submitter
- c.715-15_715-14insTCTCCTCCT Single submitter
- c.715-173CAAA[10] Single submitter
- c.715-18TCC[10] Single submitter
- c.715-18TCC[6] Single submitter
- c.715-18TCC[7] Single submitter
- c.715-18TCC[9] Single submitter
- c.715-19_715-18insCCCTCCTCC Single submitter
- c.715-4_715-3insTCCTCCCCC Single submitter
- c.715-4_715-3insTCCTCCTCT Single submitter
- c.867+122C>G Single submitter vitelliform macular dystrophy 2
- c.867+13A>G Single submitter
- c.867+16G>A Single submitter
- c.867+177G>A Single submitter
- c.867+97G>T Single submitter
- c.868-13_868-12del Single submitter
- c.868-9G>A Single submitter
- c.948+10G>A Single submitter
- c.948+10G>C Single submitter
- c.948+16G>A Single submitter
- c.948+8G>A Single submitter
- c.949-101A>G Single submitter
- c.949-14T>C Single submitter
- c.949-17_949-16del Single submitter
- c.949-8G>C Single submitter
- c.-37+274G>A Single submitter
- c.-37+329T>C Single submitter
- p.Ala195= Single submitter
- p.Ala243= Single submitter
- p.Ala321= Single submitter
- p.Ala485= Single submitter
- p.Ala509= Single submitter
- p.Ala53= Single submitter
- p.Arg13= Single submitter
- p.Arg355= Single submitter
- p.Arg437= Single submitter
- p.Arg47= Single submitter
- p.Asn11= Single submitter
- p.Asn179= Single submitter
- p.Asn339= Single submitter
- p.Asn365= Single submitter
- p.Asn435= Single submitter
- p.Asn99= Single submitter
- p.Asp270= Single submitter
- p.Asp451= Single submitter
- p.Cys23= Single submitter
- p.Gln120= Single submitter
- p.Gln280= Single submitter
- p.Gln353= Single submitter
- p.Gln439= Single submitter
- p.Gln469= Single submitter
- p.Glu119= Single submitter
- p.Glu268= Single submitter
- p.Glu333= Single submitter
- p.Glu374= Single submitter
- p.Glu518= Single submitter
- p.Glu546= Single submitter
- p.Gly26= Single submitter
- p.His178= Single submitter
- p.His386= Single submitter
- p.His402= Single submitter
- p.His422= Single submitter
- p.His551= Single submitter
- p.Ile129= Single submitter
- p.Ile28= Single submitter
- p.Ile45= Single submitter
- p.Leu106= Single submitter
- p.Leu138= Single submitter
- p.Leu171= Single submitter
- p.Leu174= Single submitter
- p.Leu20= Single submitter
- p.Leu210= Single submitter
- p.Leu22= Single submitter
- p.Leu258= Single submitter
- p.Leu31= Single submitter
- p.Leu368= Single submitter
- p.Leu394= Single submitter
- p.Leu458= Single submitter
- p.Leu481= Single submitter
- p.Leu502= Single submitter
- p.Leu54= Single submitter
- p.Leu577= Single submitter
- p.Leu75= Single submitter
- p.Lys194= Single submitter
- p.Lys262= Single submitter
- p.Lys416= Single submitter
- p.Lys448= Single submitter
- p.Lys488= Single submitter
- p.Lys64= Single submitter
- p.Phe188= Single submitter
- p.Phe39= Single submitter
- p.Pro101= Single submitter
- p.Pro334= Single submitter
- p.Pro404= Single submitter
- p.Pro486= Single submitter
- p.Pro548= Single submitter
- p.Pro560= Single submitter
- p.Pro77= Single submitter
- p.Ser108= Single submitter
- p.Ser351= Single submitter
- p.Ser455= Single submitter
- p.Ser491= Single submitter
- p.Ser506= Single submitter
- p.Ser585= Single submitter
- p.Thr241= Single submitter
- p.Thr277= Single submitter
- p.Thr410= Single submitter
- p.Thr542= Single submitter
- p.Thr55= Single submitter
- p.Tyr225= Single submitter
- p.Tyr227= Single submitter
- p.Tyr284= Single submitter
- p.Tyr33= Single submitter
- p.Tyr347= Single submitter
- p.Tyr50= Single submitter
- p.Tyr574= Single submitter
- p.Val114= Single submitter
- p.Val158= Single submitter
- p.Val240= Single submitter
- p.Val273= Single submitter
- p.Val311= Single submitter
- p.Val436Ile Single submitter
- p.Val81= Single submitter
- c.248-10T>A No assertion criteria BEST1-related disorder
- c.867+136C>T No assertion criteria BEST1-related disorder
Uncertain significance 309
Showing the top 300 by review status; the full set is in the sitemap.
- c.1740-3T>G Multiple submitters
- p.Ala12Gly Multiple submitters vitelliform macular dystrophy 2 ⚠
- p.Ala509Asp Multiple submitters Inborn genetic diseases ⚠
- p.Arg150Gly Multiple submitters vitelliform macular dystrophy 2 ⚠
- p.Arg150Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg355Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Arg355His Multiple submitters retinitis pigmentosa ⚠
- p.Arg356Gln Multiple submitters cone-rod dystrophy 6 ⚠
- p.Arg356Leu Multiple submitters autosomal dominant vitreoretinochoroidopathy ⚠
- p.Arg392Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg461Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn550Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp323Glu Multiple submitters vitelliform macular dystrophy 2 ⚠
- p.Asp384Ala Multiple submitters Inborn genetic diseases ⚠
- p.Asp543Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln397Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln74Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu172Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu383Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu423Lys Multiple submitters retinitis pigmentosa ⚠
- p.Glu514Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu525Ala Multiple submitters ⚠
- p.Glu549Lys Multiple submitters BEST1-related dominant retinopathy ⚠
- p.Glu57Asp Multiple submitters ⚠
- p.Gly121Ala Multiple submitters retinitis pigmentosa 50 ⚠
- p.Gly266Asp Multiple submitters ⚠
- p.His399Arg Multiple submitters Inborn genetic diseases ⚠
- p.His402Tyr Multiple submitters ⚠
- p.His584Gln Multiple submitters ⚠
- p.Ile45Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu106Phe Multiple submitters ⚠
- p.Leu124Gln Multiple submitters ⚠
- p.Leu138His Multiple submitters BEST1-related disorder ⚠
- p.Leu174Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu271Ile Multiple submitters vitelliform macular dystrophy 2 ⚠
- p.Leu67Pro Multiple submitters vitelliform macular dystrophy 2 ⚠
- p.Lys416Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys511Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met107Ile Multiple submitters ⚠
- p.Met360Ile Multiple submitters ⚠
- p.Met477Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met524Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe375Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro165Leu Multiple submitters ⚠
- p.Pro204Arg Multiple submitters ⚠
- p.Pro474Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro476Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro486Leu Multiple submitters autosomal dominant vitreoretinochoroidopathy ⚠
- p.Ser108Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Ser398Phe Multiple submitters inherited retinal dystrophy ⚠
- p.Ser7Asn Multiple submitters BEST1-related dominant retinopathy ⚠
- p.Thr250Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr470Met Multiple submitters ⚠
- p.Trp187Gly Multiple submitters inherited retinal dystrophy ⚠
- p.Trp287Cys Multiple submitters retinitis pigmentosa 50 ⚠
- p.Tyr148Phe Multiple submitters Inborn genetic diseases ⚠
- p.Tyr574Ter Multiple submitters
- p.Val137Met Multiple submitters Inborn genetic diseases ⚠
- p.Val272Ala Multiple submitters inherited retinal dystrophy ⚠
- p.Val450Met Multiple submitters ⚠
- p.Val505Leu Multiple submitters ⚠
- c.1100+4T>C Single submitter
- c.1101-3C>T Single submitter
- c.153-3C>T Single submitter
- c.1739+129G>A Single submitter BEST1-related disorder
- c.1739+47A>G Single submitter
- c.1739+82C>G Single submitter inherited retinal dystrophy
- c.1740-19A>G Single submitter
- c.1740-1G>A Single submitter
- c.1740-1G>C Single submitter
- c.1740-2A>C Single submitter
- c.1740-3T>C Single submitter
- c.481+3G>A Single submitter
- c.482-8C>G Single submitter
- c.636+6C>T Single submitter
- c.637-3C>A Single submitter
- c.714+3G>T Single submitter
- c.-66G>T Single submitter retinitis pigmentosa
- c.*1703C>G Single submitter ⚠
- p.Ala12Asp Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala146Ser Single submitter ⚠
- p.Ala146Thr Single submitter ⚠
- p.Ala263Thr Single submitter ⚠
- p.Ala350Thr Single submitter ⚠
- p.Ala444Pro Single submitter Inborn genetic diseases ⚠
- p.Ala444Thr Single submitter autosomal dominant vitreoretinochoroidopathy ⚠
- p.Ala444Val Single submitter ⚠
- p.Ala452Thr Single submitter ⚠
- p.Ala467Asp Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg150Cys Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Arg200Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg200Gly Single submitter Inborn genetic diseases ⚠
- p.Arg255Gln Single submitter autosomal recessive bestrophinopathy ⚠
- p.Arg313Lys Single submitter ⚠
- p.Arg331Pro Single submitter ⚠
- p.Arg355Gly Single submitter ⚠
- p.Arg356del Single submitter
- p.Arg356Gly Single submitter ⚠
- p.Arg392His Single submitter ⚠
- p.Arg405Lys Single submitter ⚠
- p.Arg437Ser Single submitter ⚠
- p.Arg461Lys Single submitter inherited retinal dystrophy ⚠
- p.Arg51= Single submitter
- p.Arg51Lys Single submitter ⚠
- p.Arg534del Single submitter
- p.Arg580= Single submitter
- p.Arg580Ser Single submitter Inborn genetic diseases ⚠
- p.Asn133Ser Single submitter ⚠
- p.Asn212= Single submitter
- p.Asn314His Single submitter Inborn genetic diseases ⚠
- p.Asn442del Single submitter
- p.Asp118Asn Single submitter ⚠
- p.Asp270Ala Single submitter ⚠
- p.Asp323Val Single submitter vitelliform macular dystrophy 2 ⚠
- p.Asp381Glu Single submitter ⚠
- p.Asp400His Single submitter ⚠
- p.Asp441Asn Single submitter ⚠
- p.Asp451Glu Single submitter ⚠
- p.Asp499Val Single submitter ⚠
- p.Asp520Asn Single submitter ⚠
- p.Asp520Glu Single submitter ⚠
- p.Asp569fs Single submitter
- p.Asp569Glu Single submitter Inborn genetic diseases ⚠
- p.Gln155Arg Single submitter ⚠
- p.Gln220Leu Single submitter ⚠
- p.Gln434His Single submitter BEST1-related disorder ⚠
- p.Gln531Pro Single submitter inherited retinal dystrophy ⚠
- p.Gln59del Single submitter
- p.Glu115Lys Single submitter ⚠
- p.Glu119Lys Single submitter ⚠
- p.Glu172Val Single submitter Inborn genetic diseases ⚠
- p.Glu213Val Single submitter ⚠
- p.Glu268Asp Single submitter ⚠
- p.Glu342Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu35Asp Single submitter autosomal recessive bestrophinopathy ⚠
- p.Glu372del Single submitter
- p.Glu380Asp Single submitter ⚠
- p.Glu382Asp Single submitter Inborn genetic diseases ⚠
- p.Glu382Lys Single submitter ⚠
- p.Glu383Gln Single submitter ⚠
- p.Glu418Lys Single submitter ⚠
- p.Glu528Gln Single submitter ⚠
- p.Glu528Gly Single submitter vitelliform macular dystrophy 2 ⚠
- p.Glu538Gln Single submitter ⚠
- p.Glu538Lys Single submitter ⚠
- p.Glu546Gln Single submitter ⚠
- p.Glu554Gln Single submitter ⚠
- p.Glu578Gly Single submitter ⚠
- p.Glu582Asp Single submitter ⚠
- p.Glu63Gln Single submitter ⚠
- p.Gly112Ala Single submitter BEST1-related disorder ⚠
- p.Gly112Ser Single submitter ⚠
- p.Gly199Asp Single submitter ⚠
- p.Gly222Glu Single submitter inherited retinal dystrophy ⚠
- p.Gly286Val Single submitter Inborn genetic diseases ⚠
- p.Gly388Asp Single submitter ⚠
- p.Gly395Arg Single submitter ⚠
- p.Gly424Val Single submitter ⚠
- p.Gly521Arg Single submitter ⚠
- p.Gly83= Single submitter inherited retinal dystrophy
- p.Gly83Asp Single submitter ⚠
- p.His156Arg Single submitter ⚠
- p.His156Tyr Single submitter ⚠
- p.His223Gln Single submitter ⚠
- p.His223Pro Single submitter ⚠
- p.His386Pro Single submitter vitelliform macular dystrophy 2 ⚠
- p.His402Gln Single submitter ⚠
- p.Ile129Leu Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile28Leu Single submitter ⚠
- p.Ile310Val Single submitter ⚠
- p.Ile46Thr Single submitter ⚠
- p.Ile495Val Single submitter ⚠
- p.Ile49Thr Single submitter ⚠
- p.Ile563Lys Single submitter Inborn genetic diseases ⚠
- p.Ile563Met Single submitter ⚠
- p.Ile73Leu Single submitter inherited retinal dystrophy ⚠
- p.Ile73Ser Single submitter ⚠
- p.Ile73Thr Single submitter inherited retinal dystrophy ⚠
- p.Ile78Thr Single submitter ⚠
- p.Leu100Pro Single submitter ⚠
- p.Leu109Pro Single submitter ⚠
- p.Leu14Ser Single submitter ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu197Ile Single submitter ⚠
- p.Leu207His Single submitter ⚠
- p.Leu217Phe Single submitter ⚠
- p.Leu249del Single submitter
- p.Leu271Pro Single submitter ⚠
- p.Leu279Pro Single submitter ⚠
- p.Leu315Val Single submitter ⚠
- p.Leu329Pro Single submitter ⚠
- p.Leu37Pro Single submitter
- p.Leu420Ile Single submitter Inborn genetic diseases ⚠
- p.Leu458Arg Single submitter ⚠
- p.Leu502Phe Single submitter ⚠
- p.Leu556Phe Single submitter ⚠
- p.Leu556Ser Single submitter ⚠
- p.Leu60Pro Single submitter ⚠
- p.Lys117= Single submitter vitelliform macular dystrophy 2
- p.Lys169Arg Single submitter ⚠
- p.Lys289= Single submitter
- p.Lys340Thr Single submitter ⚠
- p.Lys411Glu Single submitter ⚠
- p.Lys498Glu Single submitter ⚠
- p.Lys498Thr Single submitter Inborn genetic diseases ⚠
- p.Lys500Glu Single submitter ⚠
- p.Lys510Arg Single submitter ⚠
- p.Lys553Gln Single submitter ⚠
- p.Met180Thr Single submitter inherited retinal dystrophy ⚠
- p.Met193Lys Single submitter ⚠
- p.Met336Arg Single submitter ⚠
- p.Met336Val Single submitter Inborn genetic diseases ⚠
- p.Met373Thr Single submitter ⚠
- p.Met524Arg Single submitter ⚠
- p.Met544Ile Single submitter ⚠
- p.Met544Thr Single submitter ⚠
- p.Met571Thr Single submitter ⚠
- p.Phe17del Single submitter
- p.Phe17Leu Single submitter ⚠
- p.Phe248Leu Single submitter ⚠
- p.Phe276Leu Single submitter ⚠
- p.Phe282Leu Single submitter Inborn genetic diseases ⚠
- p.Phe283Leu Single submitter ⚠
- p.Phe283Ser Single submitter ⚠
- p.Phe283Val Single submitter Inborn genetic diseases ⚠
- p.Phe354Leu Single submitter inherited retinal dystrophy ⚠
- p.Phe359Ile Single submitter
- p.Phe453Ser Single submitter ⚠
- p.Phe84Val Single submitter ⚠
- p.Pro177Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro345Ala Single submitter ⚠
- p.Pro346Ala Single submitter ⚠
- p.Pro404Leu Single submitter ⚠
- p.Pro555Leu Single submitter Inborn genetic diseases ⚠
- p.Pro560Thr Single submitter ⚠
- p.Pro573Leu Single submitter Inborn genetic diseases ⚠
- p.Pro77Thr Single submitter retinitis pigmentosa ⚠
- p.Ser153Arg Single submitter Inborn genetic diseases ⚠
- p.Ser209Asn Single submitter ⚠
- p.Ser209Thr Single submitter ⚠
- p.Ser318_Leu319del Single submitter
- p.Ser318Tyr Single submitter ⚠
- p.Ser455Cys Single submitter ⚠
- p.Ser466Gly Single submitter ⚠
- p.Ser484Pro Single submitter ⚠
- p.Ser487= Single submitter inherited retinal dystrophy
- p.Ser491Gly Single submitter Inborn genetic diseases ⚠
- p.Ser507_Gly508insSer Single submitter inherited retinal dystrophy
- p.Ser512Asn Single submitter ⚠
- p.Ser512Ile Single submitter ⚠
- p.Ser519Arg Single submitter ⚠
- p.Ser585Tyr Single submitter ⚠
- p.Ser79Tyr Single submitter ⚠
- p.Thr216Ile Single submitter ⚠
- p.Thr219Pro Single submitter ⚠
- p.Thr250Ile Single submitter ⚠
- p.Thr363Pro Single submitter inherited retinal dystrophy ⚠
- p.Thr410Ile Single submitter ⚠
- p.Thr497Asn Single submitter ⚠
- p.Thr542Arg Single submitter ⚠
- p.Thr542Met Single submitter ⚠
- p.Thr55Met Single submitter ⚠
- p.Thr561Ala Single submitter retinitis pigmentosa ⚠
- p.Thr565Asn Single submitter
- p.Thr566Lys Single submitter ⚠
- p.Thr87Ala Single submitter ⚠
- p.Trp182Arg Single submitter vitelliform macular dystrophy 2 ⚠
- p.Trp196Cys Single submitter ⚠
- p.Trp229Leu Single submitter ⚠
- p.Trp338_Asn339delinsCysTyr Single submitter inherited retinal dystrophy
- p.Trp338Arg Single submitter ⚠
- p.Trp575Ter Single submitter
- p.Tyr131His Single submitter ⚠
- p.Tyr236Cys Single submitter autosomal dominant vitreoretinochoroidopathy ⚠
- p.Tyr337Cys Single submitter ⚠
- p.Tyr33Asp Single submitter inherited retinal dystrophy ⚠
- p.Tyr33Phe Single submitter vitelliform macular dystrophy 2 ⚠
- p.Tyr5Asn Single submitter ⚠
- p.Tyr5Ser Single submitter ⚠
- p.Tyr68fs Single submitter
- p.Tyr72Asp Single submitter ⚠
- p.Tyr72Cys Single submitter ⚠
- p.Tyr97Cys Single submitter inherited retinal dystrophy ⚠
- p.Val114Leu Single submitter ⚠
- p.Val137Ala Single submitter ⚠
- p.Val235Met Single submitter ⚠
- p.Val239Ala Single submitter ⚠
- p.Val272Ile Single submitter ⚠
- p.Val275Ile Single submitter ⚠
- p.Val285Asp Single submitter Rod-cone dystrophy ⚠
- p.Val290Ala Single submitter ⚠
- p.Val317Leu Single submitter autosomal recessive bestrophinopathy ⚠
- p.Val450Leu Single submitter ⚠
- p.Val537Met Single submitter