CYP4V2 — 594 ClinVar variants
All ClinVar germline CYP4V2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 235 flagged for review →
55 Pathogenic · 11 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 28 Conflicting · 42 Benign · 10 Benign/Likely benign · 120 Likely benign · 309 Uncertain significance
Full CYP4V2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 235
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CYP4V2 p.Arg85Cys
Pathogenic/Likely pathogenic
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Gly364Arg
Likely pathogenic
Single submitter
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYP4V2 p.Ala204Thr
Conflicting
Single submitter
corneal dystrophy
-
CYP4V2 p.Arg400Cys
Conflicting
Single submitter
inherited retinal dystrophy
-
CYP4V2 p.Arg443Gln
Conflicting
Single submitter
corneal dystrophy
-
CYP4V2 p.Arg443Trp
Conflicting
Single submitter
inherited retinal dystrophy
-
CYP4V2 p.Glu317Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Glu79Asp
Conflicting
Single submitter
corneal dystrophy
-
CYP4V2 p.Ile181Val
Conflicting
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Met123Val
Conflicting
Single submitter
corneal dystrophy
Predictors lean, ClinVar uncertain 128
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYP4V2 p.Ala101Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Ala185Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Arg525Cys
Uncertain significance
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Arg55Ser
Uncertain significance
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Asn104Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Asn141Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Asp281Asn
Uncertain significance
Multiple submitters
corneal dystrophy
-
CYP4V2 p.Asp301Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Asp374Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Cys406Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CYP4V2 p.Glu72Gln Uncertain significance Multiple submitters
-
CYP4V2 p.Gly410Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Leu14Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Leu258Phe
Uncertain significance
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Lys120Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Lys471Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Phe398Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Phe460Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Pro459Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Pro88Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Ser28Gly
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Thr81Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Val108Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Val323Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Val395Ala
Uncertain significance
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Val458Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Ala273Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Ala278Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Ala335Glu Uncertain significance Single submitter
- CYP4V2 p.Ala399Val Uncertain significance Single submitter
- CYP4V2 p.Ala425Thr Uncertain significance Single submitter
- CYP4V2 p.Ala449Thr Uncertain significance Single submitter
- CYP4V2 p.Ala462Val Uncertain significance Single submitter
- CYP4V2 p.Arg225Thr Uncertain significance Single submitter
- CYP4V2 p.Arg232Gln Uncertain significance Single submitter
- CYP4V2 p.Arg233Ser Uncertain significance Single submitter
-
CYP4V2 p.Arg320Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CYP4V2 p.Arg36Gly
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CYP4V2 p.Arg379Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Arg390Pro Uncertain significance Single submitter
- CYP4V2 p.Arg412Lys Uncertain significance Single submitter
- CYP4V2 p.Arg519Ser Uncertain significance Single submitter
- CYP4V2 p.Arg525Ser Uncertain significance Single submitter
- CYP4V2 p.Asn141Lys Uncertain significance Single submitter
- CYP4V2 p.Asn214Ser Uncertain significance Single submitter
- CYP4V2 p.Asn274His Uncertain significance Single submitter
- CYP4V2 p.Asn277Lys Uncertain significance Single submitter
- CYP4V2 p.Asn279Lys Uncertain significance Single submitter
- CYP4V2 p.Asn279Ser Uncertain significance Single submitter
-
CYP4V2 p.Asn493Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Asp356Tyr Uncertain significance Single submitter
- CYP4V2 p.Asp356Val Uncertain significance Single submitter
- CYP4V2 p.Asp429Glu Uncertain significance Single submitter
- CYP4V2 p.Asp429Gly Uncertain significance Single submitter
- CYP4V2 p.Asp69Asn Uncertain significance Single submitter
-
CYP4V2 p.Asp69Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Gln117Pro Uncertain significance Single submitter
-
CYP4V2 p.Gln45Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Gln470Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Glu502Ala Uncertain significance Single submitter
- CYP4V2 p.Glu72Lys Uncertain significance Single submitter
- CYP4V2 p.Gly284Asp Uncertain significance Single submitter
- CYP4V2 p.Gly288Arg Uncertain significance Single submitter
- CYP4V2 p.Gly288Asp Uncertain significance Single submitter
- CYP4V2 p.Gly463Cys Uncertain significance Single submitter
-
CYP4V2 p.His155Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.His357Arg Uncertain significance Single submitter
- CYP4V2 p.His453Tyr Uncertain significance Single submitter
- CYP4V2 p.His487Asn Uncertain significance Single submitter
-
CYP4V2 p.His62Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Ile111Asn Uncertain significance Single submitter
- CYP4V2 p.Ile209Asn Uncertain significance Single submitter
- CYP4V2 p.Ile230Val Uncertain significance Single submitter
- CYP4V2 p.Ile319Thr Uncertain significance Single submitter
-
CYP4V2 p.Ile77Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Ile77Phe Uncertain significance Single submitter
- CYP4V2 p.Ile78Met Uncertain significance Single submitter
-
CYP4V2 p.Leu102Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Leu133Gln Uncertain significance Single submitter
- CYP4V2 p.Leu135Pro Uncertain significance Single submitter
-
CYP4V2 p.Leu13Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Leu258Pro
Uncertain significance
Single submitter
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Leu300Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Leu300Pro Uncertain significance Single submitter
-
CYP4V2 p.Leu507Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Leu92Phe Uncertain significance Single submitter
-
CYP4V2 p.Lys12Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Lys293Arg Uncertain significance Single submitter
- CYP4V2 p.Lys386Asn Uncertain significance Single submitter
- CYP4V2 p.Lys478Glu Uncertain significance Single submitter
- CYP4V2 p.Lys91Arg Uncertain significance Single submitter
- CYP4V2 p.Met123Ile Uncertain significance Single submitter
- CYP4V2 p.Met229Thr Uncertain significance Single submitter
- CYP4V2 p.Met247Leu Uncertain significance Single submitter
- CYP4V2 p.Met99Thr Uncertain significance Single submitter
- CYP4V2 p.Phe126Val Uncertain significance Single submitter
-
CYP4V2 p.Phe488Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Phe73Cys Uncertain significance Single submitter
-
CYP4V2 p.Pro237Ser
Uncertain significance
Single submitter
Bietti crystalline corneoretinal dystrophy
- CYP4V2 p.Pro291Leu Uncertain significance Single submitter
- CYP4V2 p.Pro393Leu Uncertain significance Single submitter
- CYP4V2 p.Pro436Arg Uncertain significance Single submitter
- CYP4V2 p.Pro436Leu Uncertain significance Single submitter
- CYP4V2 p.Pro459His Uncertain significance Single submitter
- CYP4V2 p.Pro459Leu Uncertain significance Single submitter
-
CYP4V2 p.Pro509Arg
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CYP4V2 p.Pro509Leu
Uncertain significance
Single submitter
Bietti crystalline corneoretinal dystrophy
- CYP4V2 p.Pro58Gln Uncertain significance Single submitter
- CYP4V2 p.Pro98Ser Uncertain significance Single submitter
- CYP4V2 p.Ser115Thr Uncertain significance Single submitter
- CYP4V2 p.Ser138Asn Uncertain significance Single submitter
- CYP4V2 p.Ser267Asn Uncertain significance Single submitter
- CYP4V2 p.Ser28Thr Uncertain significance Single submitter
- CYP4V2 p.Ser347Cys Uncertain significance Single submitter
-
CYP4V2 p.Ser347Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Ser394Phe Uncertain significance Single submitter
- CYP4V2 p.Ser482Pro Uncertain significance Single submitter
- CYP4V2 p.Thr113Ala Uncertain significance Single submitter
- CYP4V2 p.Thr113Ser Uncertain significance Single submitter
- CYP4V2 p.Thr388Ile Uncertain significance Single submitter
- CYP4V2 p.Trp5Arg Uncertain significance Single submitter
- CYP4V2 p.Trp5Ser Uncertain significance Single submitter
- CYP4V2 p.Tyr457Cys Uncertain significance Single submitter
-
CYP4V2 p.Val408Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- CYP4V2 p.Val420Ile Uncertain significance Single submitter
- CYP4V2 p.Val9Leu Uncertain significance Single submitter
-
CYP4V2 p.Phe126Cys
Uncertain significance
No assertion criteria
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Thr137Lys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 97
The independent predictors disagree with each other — read with care.
-
CYP4V2 p.Ala25Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Ala370Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Arg221Cys
Uncertain significance
Multiple submitters
corneal dystrophy
-
CYP4V2 p.Arg221His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Arg272Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CYP4V2 p.Arg368Cys Uncertain significance Multiple submitters
-
CYP4V2 p.Arg368His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Arg452His
Uncertain significance
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Glu275Lys
Benign/Likely benign
Multiple submitters
corneal dystrophy
-
CYP4V2 p.Glu442Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Glu447Lys
Uncertain significance
Multiple submitters
corneal dystrophy
-
CYP4V2 p.Ile209Thr
Uncertain significance
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Leu258Ile
Uncertain significance
Multiple submitters
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Leu481Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Leu65Pro
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Lys354Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Met247Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Met475Val
Uncertain significance
Multiple submitters
corneal dystrophy
-
CYP4V2 p.Pro430Leu
Uncertain significance
Multiple submitters
corneal dystrophy
-
CYP4V2 p.Pro51Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Ser23Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Ser401Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4V2 p.Trp44Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CYP4V2 p.Tyr57His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CYP4V2 p.Ala21Thr Likely benign Single submitter
-
CYP4V2 p.Ala270Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Ala278Val
Uncertain significance
Single submitter
Bietti crystalline corneoretinal dystrophy
- CYP4V2 p.Ala27Thr Uncertain significance Single submitter
-
CYP4V2 p.Ala337Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Ala456Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Ala56Val Uncertain significance Single submitter
- CYP4V2 p.Arg144Cys Uncertain significance Single submitter
- CYP4V2 p.Arg144His Uncertain significance Single submitter
- CYP4V2 p.Arg221Ser Uncertain significance Single submitter
-
CYP4V2 p.Arg313Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Arg379Trp Uncertain significance Single submitter
- CYP4V2 p.Arg42Gly Uncertain significance Single submitter
- CYP4V2 p.Arg452Cys Uncertain significance Single submitter
-
CYP4V2 p.Arg48Pro
Uncertain significance
Single submitter
optic atrophy
-
CYP4V2 p.Arg508His
Conflicting
Single submitter
Bietti crystalline corneoretinal dystrophy
-
CYP4V2 p.Arg85His
Conflicting
Single submitter
inherited retinal dystrophy
-
CYP4V2 p.Asn182Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Asn312Tyr Uncertain significance Single submitter
- CYP4V2 p.Asn435Ile Uncertain significance Single submitter
- CYP4V2 p.Asp161Val Uncertain significance Single submitter
- CYP4V2 p.Asp361Tyr Uncertain significance Single submitter
- CYP4V2 p.Asp367Gly Uncertain significance Single submitter
- CYP4V2 p.Asp69Val Uncertain significance Single submitter
- CYP4V2 p.Cys406Tyr Uncertain significance Single submitter
- CYP4V2 p.Glu310Lys Uncertain significance Single submitter
- CYP4V2 p.Glu350Gly Uncertain significance Single submitter
-
CYP4V2 p.Glu404Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Glu437Lys Uncertain significance Single submitter
- CYP4V2 p.Glu438Lys Uncertain significance Single submitter
- CYP4V2 p.Glu498Ala Conflicting Single submitter
- CYP4V2 p.Glu72Val Uncertain significance Single submitter
- CYP4V2 p.Gly311Arg Uncertain significance Single submitter
- CYP4V2 p.Gly70Arg Uncertain significance Single submitter
-
CYP4V2 p.Gly7Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.His180Gln Uncertain significance Single submitter
- CYP4V2 p.His180Tyr Uncertain significance Single submitter
-
CYP4V2 p.His254Arg
Uncertain significance
Single submitter
Bietti crystalline corneoretinal dystrophy
- CYP4V2 p.Ile158Met Uncertain significance Single submitter
- CYP4V2 p.Ile158Val Uncertain significance Single submitter
- CYP4V2 p.Ile181Asn Uncertain significance Single submitter
- CYP4V2 p.Ile209Ser Uncertain significance Single submitter
-
CYP4V2 p.Ile260Met
Conflicting
Single submitter
inherited retinal dystrophy
- CYP4V2 p.Ile260Phe Uncertain significance Single submitter
- CYP4V2 p.Ile468Val Uncertain significance Single submitter
- CYP4V2 p.Ile490Met Uncertain significance Single submitter
-
CYP4V2 p.Leu15Pro
Conflicting
Single submitter
Inborn genetic diseases
-
CYP4V2 p.Leu246Val
Conflicting
Single submitter
corneal dystrophy
- CYP4V2 p.Leu24Pro Uncertain significance Single submitter
- CYP4V2 p.Leu34Pro Uncertain significance Single submitter
- CYP4V2 p.Leu499Phe Uncertain significance Single submitter
- CYP4V2 p.Leu501Val Uncertain significance Single submitter
- CYP4V2 p.Lys207Arg Uncertain significance Single submitter
- CYP4V2 p.Met226Thr Uncertain significance Single submitter
- CYP4V2 p.Met247Ile Uncertain significance Single submitter
- CYP4V2 p.Phe126Ile Uncertain significance Single submitter
- CYP4V2 p.Phe73Leu Pathogenic Single submitter
- CYP4V2 p.Phe73Val Uncertain significance Single submitter
- CYP4V2 p.Pro454Leu Uncertain significance Single submitter
- CYP4V2 p.Ser257Arg Uncertain significance Single submitter
- CYP4V2 p.Ser366Pro Uncertain significance Single submitter
- CYP4V2 p.Ser482Ala Uncertain significance Single submitter
- CYP4V2 p.Ser510Asn Uncertain significance Single submitter
- CYP4V2 p.Thr263Ile Uncertain significance Single submitter
-
CYP4V2 p.Thr371Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Thr417Ser Uncertain significance Single submitter
-
CYP4V2 p.Thr479Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Trp244Arg Uncertain significance Single submitter
- CYP4V2 p.Tyr191Asn Uncertain significance Single submitter
- CYP4V2 p.Val174Ala Uncertain significance Single submitter
-
CYP4V2 p.Val306Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4V2 p.Val323Ile Uncertain significance Single submitter
-
CYP4V2 p.Phe73Ile
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All CYP4V2 variants
Pathogenic 55
- c.801+1G>A Multiple submitters inherited retinal dystrophy
- c.802-6_810del Multiple submitters Bietti crystalline corneoretinal dystrophy
- c.802-8_810delinsGC Multiple submitters inherited retinal dystrophy
- p.Arg232Ter Multiple submitters inherited retinal dystrophy
- p.Arg390Cys Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Arg465Gly Multiple submitters
- p.Gln450Ter Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Gly134Ter Multiple submitters inherited retinal dystrophy
- p.Ile111Thr Multiple submitters inherited retinal dystrophy
- p.Trp340Ter Multiple submitters inherited retinal dystrophy
- p.Val355fs Multiple submitters inherited retinal dystrophy
- c.327+1G>A Single submitter Bietti crystalline corneoretinal dystrophy
- c.802-8T>G Single submitter
- c.988-1G>A Single submitter
- c.988-1G>C Single submitter
- p.Ala196fs Single submitter
- p.Asn171fs Single submitter
- p.Asn182fs Single submitter
- p.Gln440Ter Single submitter
- p.Glu184Ter Single submitter
- p.Glu310Ter Single submitter
- p.Glu407Ter Single submitter Bietti crystalline corneoretinal dystrophy
- p.Glu447fs Single submitter
- p.His357fs Single submitter
- p.Ile77fs Single submitter
- p.Leu127Ter Single submitter
- p.Leu89_Leu90insTer Single submitter Bietti crystalline corneoretinal dystrophy
- p.Met1Lys Single submitter
- p.Phe73Leu Single submitter ⚠
- p.Phe74fs Single submitter
- p.Pro396Leu Single submitter Bietti crystalline corneoretinal dystrophy
- p.Ser138fs Single submitter
- p.Thr325Ile Single submitter Bietti crystalline corneoretinal dystrophy
- p.Trp16fs Single submitter
- p.Tyr343Asp Single submitter
- p.Tyr457Ter Single submitter
- p.Tyr84fs Single submitter
- p.Val94fs Single submitter
- c.1090+1G>C No assertion criteria optic atrophy
- c.1226-6_1235del No assertion criteria Bietti crystalline corneoretinal dystrophy
- c.414-1G>T No assertion criteria inherited retinal dystrophy
- p.Arg320Ter No assertion criteria retinitis pigmentosa
- p.Asn294fs No assertion criteria inherited retinal dystrophy
- p.Asn466Asp No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Asp324Val No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Asp374_Leu375insTer No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Gly210fs No assertion criteria inherited retinal dystrophy
- p.Gly61Ser No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.His254fs No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Leu112Ter No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Lys386Thr No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Ser341Pro No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Ser482Ter No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Tyr219His No assertion criteria Bietti crystalline corneoretinal dystrophy
- p.Tyr40Ter No assertion criteria Bietti crystalline corneoretinal dystrophy
Pathogenic/Likely pathogenic 11
- c.1091-2A>G Multiple submitters inherited retinal dystrophy
- c.414-1G>A Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Arg390His Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Arg400His Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Arg85Cys Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Glu168fs Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.His331Pro Multiple submitters inherited retinal dystrophy
- p.Leu173Trp Multiple submitters inherited retinal dystrophy
- p.Leu59fs Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Met66Arg Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Thr265fs Multiple submitters inherited retinal dystrophy
Likely pathogenic 19
- p.Arg390Leu Multiple submitters Bietti crystalline corneoretinal dystrophy
- c.413+1G>A Single submitter
- c.413+1G>C Single submitter
- c.605-2A>G Single submitter
- c.802-8_810del Single submitter choroideremia
- c.987+1G>A Single submitter
- p.Asn107fs Single submitter Bietti crystalline corneoretinal dystrophy
- p.Gln494Ter Single submitter
- p.Gly364Arg Single submitter inherited retinal dystrophy ⚠
- p.Gly503Arg Single submitter
- p.Gly95Arg Single submitter
- p.Leu177fs Single submitter Bietti crystalline corneoretinal dystrophy
- p.Phe433Leu Single submitter inherited retinal dystrophy
- p.Ser292fs Single submitter inherited retinal dystrophy
- p.Ser315_His316insTer Single submitter Bietti crystalline corneoretinal dystrophy
- p.Trp244Ter Single submitter Bietti crystalline corneoretinal dystrophy
- p.Tyr455fs Single submitter Bietti crystalline corneoretinal dystrophy
- p.Cys383fs No assertion criteria
- p.Tyr84Ter No assertion criteria Bietti crystalline corneoretinal dystrophy
Conflicting classifications of pathogenicity 28
- c.1091-15A>G Single submitter corneal dystrophy
- c.674+14T>C Single submitter corneal dystrophy
- c.*1027C>T Single submitter corneal dystrophy
- c.*1474G>T Single submitter corneal dystrophy
- c.*1503A>C Single submitter Bietti crystalline corneoretinal dystrophy
- c.*1737A>G Single submitter corneal dystrophy
- c.*2166C>G Single submitter corneal dystrophy
- c.*4T>C Single submitter corneal dystrophy
- p.Ala204Thr Single submitter corneal dystrophy ⚠
- p.Arg400Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg443Gln Single submitter corneal dystrophy ⚠
- p.Arg443Trp Single submitter inherited retinal dystrophy ⚠
- p.Arg508His Single submitter Bietti crystalline corneoretinal dystrophy ⚠
- p.Arg85His Single submitter inherited retinal dystrophy ⚠
- p.Asn448= Single submitter Bietti crystalline corneoretinal dystrophy
- p.Asn493= Single submitter
- p.Glu317Asp Single submitter Inborn genetic diseases ⚠
- p.Glu498Ala Single submitter ⚠
- p.Glu79Asp Single submitter corneal dystrophy ⚠
- p.Ile181Val Single submitter Inborn genetic diseases ⚠
- p.Ile260Met Single submitter inherited retinal dystrophy ⚠
- p.Leu15Pro Single submitter Inborn genetic diseases ⚠
- p.Leu246Val Single submitter corneal dystrophy ⚠
- p.Leu33= Single submitter corneal dystrophy
- p.Met123Val Single submitter corneal dystrophy ⚠
- p.Pro446= Single submitter corneal dystrophy
- p.Ser482= Single submitter corneal dystrophy
- p.Val94= Single submitter Bietti crystalline corneoretinal dystrophy
Benign 42
- c.1091-24A>G Multiple submitters
- c.1225+45A>G Multiple submitters
- c.214+117C>A Multiple submitters
- c.215-22C>A Multiple submitters
- c.327+75C>T Multiple submitters
- c.328-87T>C Multiple submitters
- c.604+74C>T Multiple submitters
- c.604+75G>A Multiple submitters
- c.605-25G>T Multiple submitters
- c.802-107C>T Multiple submitters
- c.802-7C>T Multiple submitters corneal dystrophy
- c.-146C>T Multiple submitters Bietti crystalline corneoretinal dystrophy
- c.*1148A>G Multiple submitters Bietti crystalline corneoretinal dystrophy
- c.*1236A>T Multiple submitters corneal dystrophy
- c.*1781A>C Multiple submitters corneal dystrophy
- c.*2399C>T Multiple submitters corneal dystrophy
- c.*364T>G Multiple submitters corneal dystrophy
- c.*725C>T Multiple submitters corneal dystrophy
- c.*741C>T Multiple submitters corneal dystrophy
- p.Ala185= Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Ala270= Multiple submitters corneal dystrophy
- p.Asp361= Multiple submitters corneal dystrophy
- p.Cys282= Multiple submitters corneal dystrophy
- p.Gln259Lys Multiple submitters corneal dystrophy
- p.Leu22Val Multiple submitters corneal dystrophy
- c.1090+99del Single submitter
- c.1091-205A>G Single submitter
- c.1405+18T>A Single submitter
- c.1406-119G>A Single submitter
- c.215-233A>G Single submitter
- c.215-238C>G Single submitter
- c.215-243A>G Single submitter
- c.327+179G>A Single submitter
- c.327+230T>G Single submitter
- c.674+188_674+191del Single submitter
- c.801+124C>T Single submitter
- c.801+140C>T Single submitter
- c.801+220C>G Single submitter
- c.*210dup Single submitter
- p.Ala41Val Single submitter
- p.Arg443= Single submitter
- p.Val372Ile Single submitter
Benign/Likely benign 10
- c.1091-4T>A Multiple submitters corneal dystrophy
- c.327+11G>C Multiple submitters Bietti crystalline corneoretinal dystrophy
- c.327+7A>G Multiple submitters
- c.-128A>G Multiple submitters Bietti crystalline corneoretinal dystrophy
- c.*1638G>A Multiple submitters corneal dystrophy
- p.Glu275Lys Multiple submitters corneal dystrophy ⚠
- p.Gly512= Multiple submitters corneal dystrophy
- p.Ser213Asn Multiple submitters Bietti crystalline corneoretinal dystrophy
- c.*2106G>T Single submitter corneal dystrophy
- c.*2303G>C Single submitter corneal dystrophy
Likely benign 120
- c.1090+14C>T Single submitter
- c.1090+15T>G Single submitter
- c.1091-11G>C Single submitter
- c.1091-17C>T Single submitter
- c.1091-20T>G Single submitter
- c.1225+10C>T Single submitter
- c.1225+15C>T Single submitter
- c.1225+20A>G Single submitter
- c.1225+9G>A Single submitter
- c.1226-13T>C Single submitter
- c.1226-16G>T Single submitter
- c.1226-7T>C Single submitter
- c.1405+9C>A Single submitter
- c.1405+9C>T Single submitter
- c.214+10G>C Single submitter
- c.214+12C>T Single submitter
- c.214+17C>T Single submitter
- c.214+7G>A Single submitter
- c.214+9C>A Single submitter
- c.214+9C>G Single submitter
- c.214+9C>T Single submitter
- c.215-20A>T Single submitter
- c.215-6C>T Single submitter
- c.327+20A>T Single submitter
- c.328-5C>T Single submitter
- c.413+10T>C Single submitter
- c.413+10T>G Single submitter
- c.413+20T>C Single submitter
- c.413+7del Single submitter
- c.413+8A>C Single submitter
- c.414-13A>G Single submitter
- c.414-13A>T Single submitter
- c.414-17A>C Single submitter
- c.414-7T>C Single submitter
- c.604+12C>T Single submitter
- c.604+15T>G Single submitter
- c.604+16C>T Single submitter
- c.605-13C>T Single submitter
- c.605-4A>G Single submitter
- c.675-4A>G Single submitter
- c.675-8A>G Single submitter
- c.801+14T>C Single submitter
- c.801+19C>A Single submitter
- c.802-14T>C Single submitter
- c.802-18A>G Single submitter
- c.987+14T>A Single submitter
- c.988-11T>C Single submitter
- c.988-12C>T Single submitter
- c.988-19T>C Single submitter
- c.988-20A>G Single submitter
- c.988-9C>T Single submitter
- p.Ala21Thr Single submitter ⚠
- p.Ala25= Single submitter
- p.Ala336= Single submitter
- p.Ala337= Single submitter
- p.Ala399= Single submitter
- p.Ala419= Single submitter
- p.Ala456= Single submitter
- p.Ala56= Single submitter
- p.Ala63= Single submitter
- p.Arg144= Single submitter
- p.Arg519= Single submitter
- p.Arg55= Single submitter
- p.Asn141= Single submitter
- p.Asn277= Single submitter
- p.Asn312= Single submitter
- p.Asn521= Single submitter
- p.Asp198= Single submitter
- p.Asp301= Single submitter
- p.Asp367= Single submitter
- p.Asp405= Single submitter
- p.Glu438= Single submitter
- p.Glu477= Single submitter
- p.Gly463= Single submitter
- p.Gly61= Single submitter
- p.His155= Single submitter
- p.His331= Single submitter
- p.His86= Single submitter
- p.Ile199= Single submitter
- p.Ile234Met Single submitter Inborn genetic diseases
- p.Ile338= Single submitter
- p.Ile50= Single submitter
- p.Ile77= Single submitter
- p.Ile78= Single submitter
- p.Leu102= Single submitter
- p.Leu127= Single submitter
- p.Leu13= Single submitter
- p.Leu131= Single submitter
- p.Leu136= Single submitter
- p.Leu239= Single submitter
- p.Leu31= Single submitter
- p.Leu4= Single submitter
- p.Leu505= Single submitter
- p.Leu517= Single submitter
- p.Leu59= Single submitter
- p.Leu8= Single submitter
- p.Leu90= Single submitter
- p.Lys116= Single submitter
- p.Lys142= Single submitter
- p.Lys478= Single submitter
- p.Lys518= Single submitter
- p.Pro152= Single submitter
- p.Pro369= Single submitter
- p.Pro423= Single submitter
- p.Pro430= Single submitter
- p.Pro436= Single submitter
- p.Pro454= Single submitter
- p.Pro459= Single submitter
- p.Pro49= Single submitter
- p.Pro509= Single submitter
- p.Pro58= Single submitter
- p.Pro88= Single submitter
- p.Ser115= Single submitter
- p.Ser401= Single submitter
- p.Tyr40= Single submitter
- p.Tyr424= Single submitter
- p.Tyr457= Single submitter
- p.Tyr80= Single submitter
- p.Val323= Single submitter
- p.Val384= Single submitter
Uncertain significance 309
Showing the top 300 by review status; the full set is in the sitemap.
- c.*1057T>C Multiple submitters Bietti crystalline corneoretinal dystrophy
- p.Ala101Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala185Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ala25Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala370Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg221Cys Multiple submitters corneal dystrophy ⚠
- p.Arg221His Multiple submitters Inborn genetic diseases ⚠
- p.Arg272Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg368Cys Multiple submitters ⚠
- p.Arg368His Multiple submitters Inborn genetic diseases ⚠
- p.Arg452His Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Arg525Cys Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Arg55Ser Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Asn104Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn141Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp281Asn Multiple submitters corneal dystrophy ⚠
- p.Asp301Ala Multiple submitters Inborn genetic diseases ⚠
- p.Asp374Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys406Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Glu442Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu447Lys Multiple submitters corneal dystrophy ⚠
- p.Glu72Gln Multiple submitters ⚠
- p.Gly410Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ile209Thr Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Leu14Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu258Ile Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Leu258Phe Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Leu481Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu65Pro Multiple submitters inherited retinal dystrophy ⚠
- p.Lys120Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys354Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys471Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met247Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met475Val Multiple submitters corneal dystrophy ⚠
- p.Phe398Cys Multiple submitters Inborn genetic diseases ⚠
- p.Phe460Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Pro430Leu Multiple submitters corneal dystrophy ⚠
- p.Pro459Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro51Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Pro88Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser217= Multiple submitters inherited retinal dystrophy
- p.Ser23Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser28Gly Multiple submitters inherited retinal dystrophy ⚠
- p.Ser401Gly Multiple submitters Inborn genetic diseases ⚠
- p.Thr81Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Trp44Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Tyr57His Multiple submitters Inborn genetic diseases ⚠
- p.Val108Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val323Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val395Ala Multiple submitters Bietti crystalline corneoretinal dystrophy ⚠
- p.Val458Met Multiple submitters inherited retinal dystrophy ⚠
- c.1091-14C>T Single submitter
- c.1225+14A>G Single submitter corneal dystrophy
- c.1225+3A>T Single submitter
- c.1225+5G>A Single submitter
- c.1406-1G>A Single submitter
- c.328-12del Single submitter
- c.328-3A>G Single submitter
- c.413+6C>T Single submitter
- c.801+5G>A Single submitter
- c.987+3A>G Single submitter
- c.987+5_987+9del Single submitter
- c.987+7T>C Single submitter corneal dystrophy
- c.988-11T>A Single submitter
- c.988-3T>C Single submitter
- c.-133G>T Single submitter corneal dystrophy
- c.-178C>T Single submitter Bietti crystalline corneoretinal dystrophy
- c.-199C>T Single submitter Bietti crystalline corneoretinal dystrophy
- c.-22C>G Single submitter corneal dystrophy
- c.*1023_*1024del Single submitter
- c.*1023T>C Single submitter corneal dystrophy
- c.*1025CA[18] Single submitter
- c.*1025CA[19] Single submitter
- c.*1052A>T Single submitter corneal dystrophy
- c.*1053C>T Single submitter Bietti crystalline corneoretinal dystrophy
- c.*1054_*1055insTA Single submitter
- c.*1059CA[5] Single submitter
- c.*1159T>A Single submitter Bietti crystalline corneoretinal dystrophy
- c.*1238C>T Single submitter corneal dystrophy
- c.*1317T>C Single submitter corneal dystrophy
- c.*1417T>A Single submitter corneal dystrophy
- c.*1463G>C Single submitter corneal dystrophy
- c.*1496G>C Single submitter corneal dystrophy
- c.*1589C>T Single submitter corneal dystrophy
- c.*160A>G Single submitter corneal dystrophy
- c.*1690C>T Single submitter corneal dystrophy
- c.*1705C>T Single submitter corneal dystrophy
- c.*1721A>G Single submitter corneal dystrophy
- c.*1722T>C Single submitter corneal dystrophy
- c.*172T>C Single submitter corneal dystrophy
- c.*1756T>C Single submitter corneal dystrophy
- c.*175A>G Single submitter corneal dystrophy
- c.*1774C>T Single submitter corneal dystrophy
- c.*1851A>G Single submitter corneal dystrophy
- c.*1986G>A Single submitter corneal dystrophy
- c.*198A>T Single submitter corneal dystrophy
- c.*2010G>A Single submitter corneal dystrophy
- c.*2017T>C Single submitter corneal dystrophy
- c.*204T>C Single submitter corneal dystrophy
- c.*2078T>C Single submitter corneal dystrophy
- c.*2116A>C Single submitter corneal dystrophy
- c.*2139G>A Single submitter corneal dystrophy
- c.*2163G>A Single submitter corneal dystrophy
- c.*2176T>C Single submitter corneal dystrophy
- c.*2189A>G Single submitter corneal dystrophy
- c.*2266A>G Single submitter corneal dystrophy
- c.*2281A>G Single submitter corneal dystrophy
- c.*232G>A Single submitter Bietti crystalline corneoretinal dystrophy
- c.*2373G>C Single submitter corneal dystrophy
- c.*2590T>C Single submitter corneal dystrophy
- c.*2622A>T Single submitter corneal dystrophy
- c.*2708A>G Single submitter corneal dystrophy
- c.*2748A>G Single submitter corneal dystrophy
- c.*2751A>G Single submitter corneal dystrophy
- c.*282A>C Single submitter Bietti crystalline corneoretinal dystrophy
- c.*364T>A Single submitter corneal dystrophy
- c.*392G>A Single submitter corneal dystrophy
- c.*449C>T Single submitter corneal dystrophy
- c.*452C>T Single submitter corneal dystrophy
- c.*636A>G Single submitter corneal dystrophy
- c.*659A>G Single submitter corneal dystrophy
- c.*715C>T Single submitter corneal dystrophy
- c.*810C>G Single submitter Bietti crystalline corneoretinal dystrophy
- c.*829C>T Single submitter corneal dystrophy
- c.*836C>A Single submitter Bietti crystalline corneoretinal dystrophy
- c.*888G>A Single submitter corneal dystrophy
- c.*923G>A Single submitter corneal dystrophy
- c.*999C>T Single submitter corneal dystrophy
- p.Ala270Val Single submitter Inborn genetic diseases ⚠
- p.Ala273Gly Single submitter Inborn genetic diseases ⚠
- p.Ala278Thr Single submitter Inborn genetic diseases ⚠
- p.Ala278Val Single submitter Bietti crystalline corneoretinal dystrophy ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala335Glu Single submitter ⚠
- p.Ala337Ser Single submitter Inborn genetic diseases ⚠
- p.Ala399Val Single submitter ⚠
- p.Ala41= Single submitter inherited retinal dystrophy
- p.Ala425Thr Single submitter ⚠
- p.Ala449Thr Single submitter ⚠
- p.Ala456Gly Single submitter Inborn genetic diseases ⚠
- p.Ala462Val Single submitter ⚠
- p.Ala56Val Single submitter ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg221Ser Single submitter ⚠
- p.Arg225Thr Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg233Ser Single submitter ⚠
- p.Arg313Gly Single submitter Inborn genetic diseases ⚠
- p.Arg320= Single submitter inherited retinal dystrophy
- p.Arg320Leu Single submitter inherited retinal dystrophy ⚠
- p.Arg36Gly Single submitter inherited retinal dystrophy ⚠
- p.Arg379Gln Single submitter Inborn genetic diseases ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg390Pro Single submitter ⚠
- p.Arg412Lys Single submitter ⚠
- p.Arg42Gly Single submitter ⚠
- p.Arg452Cys Single submitter ⚠
- p.Arg48Pro Single submitter optic atrophy ⚠
- p.Arg519Ser Single submitter ⚠
- p.Arg525Ser Single submitter ⚠
- p.Asn141Lys Single submitter ⚠
- p.Asn182Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn214Ser Single submitter ⚠
- p.Asn274His Single submitter ⚠
- p.Asn277Lys Single submitter ⚠
- p.Asn279Lys Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asn312Tyr Single submitter ⚠
- p.Asn435Ile Single submitter ⚠
- p.Asn493Ser Single submitter Inborn genetic diseases ⚠
- p.Asp161Val Single submitter ⚠
- p.Asp356Tyr Single submitter ⚠
- p.Asp356Val Single submitter ⚠
- p.Asp361Tyr Single submitter ⚠
- p.Asp367Gly Single submitter ⚠
- p.Asp429Glu Single submitter ⚠
- p.Asp429Gly Single submitter ⚠
- p.Asp69Asn Single submitter ⚠
- p.Asp69Glu Single submitter Inborn genetic diseases ⚠
- p.Asp69Val Single submitter ⚠
- p.Cys282Tyr Single submitter inherited retinal dystrophy
- p.Cys406Tyr Single submitter ⚠
- p.Gln117Pro Single submitter ⚠
- p.Gln45Arg Single submitter Inborn genetic diseases ⚠
- p.Gln470Arg Single submitter Inborn genetic diseases ⚠
- p.Glu250del Single submitter
- p.Glu310Lys Single submitter ⚠
- p.Glu322del Single submitter
- p.Glu350Gly Single submitter ⚠
- p.Glu404Lys Single submitter Inborn genetic diseases ⚠
- p.Glu437Lys Single submitter ⚠
- p.Glu438Lys Single submitter ⚠
- p.Glu502Ala Single submitter ⚠
- p.Glu72Lys Single submitter ⚠
- p.Glu72Val Single submitter ⚠
- p.Gly284Asp Single submitter ⚠
- p.Gly288Arg Single submitter ⚠
- p.Gly288Asp Single submitter ⚠
- p.Gly311Arg Single submitter ⚠
- p.Gly463Cys Single submitter ⚠
- p.Gly70Arg Single submitter ⚠
- p.Gly7Ala Single submitter Inborn genetic diseases ⚠
- p.His155Tyr Single submitter Inborn genetic diseases ⚠
- p.His180Gln Single submitter ⚠
- p.His180Tyr Single submitter ⚠
- p.His254Arg Single submitter Bietti crystalline corneoretinal dystrophy ⚠
- p.His357Arg Single submitter ⚠
- p.His453Tyr Single submitter ⚠
- p.His487Asn Single submitter ⚠
- p.His62Gln Single submitter Inborn genetic diseases ⚠
- p.Ile111Asn Single submitter ⚠
- p.Ile158Met Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile181Asn Single submitter ⚠
- p.Ile209Asn Single submitter ⚠
- p.Ile209Ser Single submitter ⚠
- p.Ile230Val Single submitter ⚠
- p.Ile260Phe Single submitter ⚠
- p.Ile319Thr Single submitter ⚠
- p.Ile468Val Single submitter ⚠
- p.Ile490Met Single submitter ⚠
- p.Ile77Met Single submitter Inborn genetic diseases ⚠
- p.Ile77Phe Single submitter ⚠
- p.Ile78del Single submitter
- p.Ile78Met Single submitter ⚠
- p.Leu102Val Single submitter Inborn genetic diseases ⚠
- p.Leu133Gln Single submitter ⚠
- p.Leu135Pro Single submitter ⚠
- p.Leu13Val Single submitter Inborn genetic diseases ⚠
- p.Leu24Pro Single submitter ⚠
- p.Leu258Pro Single submitter Bietti crystalline corneoretinal dystrophy ⚠
- p.Leu300Phe Single submitter Inborn genetic diseases ⚠
- p.Leu300Pro Single submitter ⚠
- p.Leu34Pro Single submitter ⚠
- p.Leu499Phe Single submitter ⚠
- p.Leu501Val Single submitter ⚠
- p.Leu507Pro Single submitter Inborn genetic diseases ⚠
- p.Leu8_Val9insTrpLeuGlyLeu Single submitter
- p.Leu92Phe Single submitter ⚠
- p.Lys12Glu Single submitter Inborn genetic diseases ⚠
- p.Lys207Arg Single submitter ⚠
- p.Lys293Arg Single submitter ⚠
- p.Lys354= Single submitter corneal dystrophy
- p.Lys386Asn Single submitter ⚠
- p.Lys478Glu Single submitter ⚠
- p.Lys91Arg Single submitter ⚠
- p.Met123Ile Single submitter ⚠
- p.Met166Lys Single submitter
- p.Met226Thr Single submitter ⚠
- p.Met229del Single submitter
- p.Met229Thr Single submitter ⚠
- p.Met247Ile Single submitter ⚠
- p.Met247Leu Single submitter ⚠
- p.Met99Thr Single submitter ⚠
- p.Phe126Ile Single submitter ⚠
- p.Phe126Val Single submitter ⚠
- p.Phe488Val Single submitter Inborn genetic diseases ⚠
- p.Phe73Cys Single submitter ⚠
- p.Phe73Val Single submitter ⚠
- p.Pro237Ser Single submitter Bietti crystalline corneoretinal dystrophy ⚠
- p.Pro291Leu Single submitter ⚠
- p.Pro393Leu Single submitter ⚠
- p.Pro436Arg Single submitter ⚠
- p.Pro436Leu Single submitter ⚠
- p.Pro454Leu Single submitter ⚠
- p.Pro459His Single submitter ⚠
- p.Pro459Leu Single submitter ⚠
- p.Pro509Arg Single submitter inherited retinal dystrophy ⚠
- p.Pro509Leu Single submitter Bietti crystalline corneoretinal dystrophy ⚠
- p.Pro58Gln Single submitter ⚠
- p.Pro88del Single submitter
- p.Pro98Ser Single submitter ⚠
- p.Ser115Thr Single submitter ⚠
- p.Ser138Asn Single submitter ⚠
- p.Ser257Arg Single submitter ⚠
- p.Ser267Asn Single submitter ⚠
- p.Ser28Thr Single submitter ⚠
- p.Ser347Cys Single submitter ⚠
- p.Ser347Pro Single submitter Inborn genetic diseases ⚠
- p.Ser366Pro Single submitter ⚠
- p.Ser394Phe Single submitter ⚠
- p.Ser482Ala Single submitter ⚠
- p.Ser482Pro Single submitter ⚠
- p.Ser510Asn Single submitter ⚠
- p.Thr113Ala Single submitter ⚠
- p.Thr113Ser Single submitter ⚠
- p.Thr263Ile Single submitter ⚠
- p.Thr371Ile Single submitter Inborn genetic diseases ⚠
- p.Thr388Ile Single submitter ⚠
- p.Thr417Phe Single submitter
- p.Thr417Ser Single submitter ⚠
- p.Thr479Asn Single submitter Inborn genetic diseases ⚠
- p.Trp244Arg Single submitter ⚠
- p.Trp5Arg Single submitter ⚠
- p.Trp5Ser Single submitter ⚠
- p.Tyr191Asn Single submitter ⚠
- p.Tyr457Cys Single submitter ⚠
- p.Val174Ala Single submitter ⚠
- p.Val306Met Single submitter Inborn genetic diseases ⚠