LCA5 — 908 ClinVar variants
All ClinVar germline LCA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 292 flagged for review →
70 Pathogenic · 31 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 36 Conflicting · 12 Benign · 7 Benign/Likely benign · 325 Likely benign · 372 Uncertain significance
Full LCA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 292
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
LCA5 p.Ala319Thr
Pathogenic/Likely pathogenic
Multiple submitters
Leber congenital amaurosis 1
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LCA5 p.Ala222Pro
Conflicting
Single submitter
LCA5-related disorder
-
LCA5 p.Ala552Thr
Conflicting
Single submitter
Inborn genetic diseases
- LCA5 p.Arg482Gln Conflicting Single submitter
-
LCA5 p.Arg94Gln
Conflicting
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Asn113Ser
Conflicting
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Asp590Gly
Conflicting
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Asp676Tyr
Conflicting
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Asp677Asn
Conflicting
Single submitter
Inborn genetic diseases
-
LCA5 p.Glu13Gly
Conflicting
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Leu366Ser
Conflicting
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Pro307Ala
Conflicting
Single submitter
Inborn genetic diseases
-
LCA5 p.Pro548Ser
Conflicting
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Thr29Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 241
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 241
-
LCA5 p.Ala107Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Ala683Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Arg103Gln Uncertain significance Multiple submitters
-
LCA5 p.Arg103Trp
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Arg163His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Arg174His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Arg183Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Arg375Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Arg414Ile Uncertain significance Multiple submitters
-
LCA5 p.Arg669Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Arg669Met
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
- LCA5 p.Arg66Trp Uncertain significance Multiple submitters
-
LCA5 p.Arg94Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Asn166Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Asn271Ser Uncertain significance Multiple submitters
-
LCA5 p.Asn472Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Asn638Asp
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- LCA5 p.Asp269Gly Uncertain significance Multiple submitters
-
LCA5 p.Asp475Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Asp494Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Asp593Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Asp677Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Gln254Arg Uncertain significance Multiple submitters
-
LCA5 p.Gln63Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Glu3Lys
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
- LCA5 p.Glu473Ala Uncertain significance Multiple submitters
-
LCA5 p.Glu503Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Glu550Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Gly362Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Gly380Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Gly534Arg
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
- LCA5 p.Gly9Asp Uncertain significance Multiple submitters
- LCA5 p.His164Arg Uncertain significance Multiple submitters
-
LCA5 p.His61Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Ile527Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Leu171Phe
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Leu246Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Leu292Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Leu88Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Lys102Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Lys340Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Lys71Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Lys77Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Met352Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Met386Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Met386Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Met466Arg
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Phe511Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Phe609Leu
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Phe657Ser
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Pro307Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Pro532Arg Uncertain significance Multiple submitters
- LCA5 p.Pro532Leu Uncertain significance Multiple submitters
-
LCA5 p.Pro70Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Pro74Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Ser243Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Ser497Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Ser505Ile Uncertain significance Multiple submitters
-
LCA5 p.Ser621Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Ser686Cys
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Ser7Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Thr101Ala Uncertain significance Multiple submitters
-
LCA5 p.Thr199Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Thr350Ile
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Thr394Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Thr596Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Trp412Cys Uncertain significance Multiple submitters
-
LCA5 p.Tyr282Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Val401Ile
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
-
LCA5 p.Val46Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Val557Met
Uncertain significance
Multiple submitters
Leber congenital amaurosis 5
- LCA5 p.Ala153Val Uncertain significance Single submitter
-
LCA5 p.Ala184Val
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Ala212Ser Uncertain significance Single submitter
- LCA5 p.Ala259Thr Uncertain significance Single submitter
-
LCA5 p.Ala264Ser
Uncertain significance
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Ala264Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Ala264Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Ala425Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Ala552Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Ala602Gly
Uncertain significance
Single submitter
Leber congenital amaurosis
- LCA5 p.Ala628Ser Uncertain significance Single submitter
- LCA5 p.Ala64Thr Uncertain significance Single submitter
- LCA5 p.Ala684Pro Uncertain significance Single submitter
- LCA5 p.Ala684Val Uncertain significance Single submitter
-
LCA5 p.Ala695Thr
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Arg138Lys Uncertain significance Single submitter
- LCA5 p.Arg142Lys Uncertain significance Single submitter
-
LCA5 p.Arg174Gly
Uncertain significance
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Arg280Gln
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Arg35Gln Uncertain significance Single submitter
- LCA5 p.Arg430Lys Uncertain significance Single submitter
- LCA5 p.Arg440Lys Uncertain significance Single submitter
- LCA5 p.Arg47Gly Uncertain significance Single submitter
-
LCA5 p.Arg4Gly
Uncertain significance
Single submitter
Leber congenital amaurosis 5
-
LCA5 p.Arg517Ile
Uncertain significance
Single submitter
Leber congenital amaurosis
- LCA5 p.Arg597Lys Uncertain significance Single submitter
- LCA5 p.Arg647Ser Uncertain significance Single submitter
-
LCA5 p.Arg671Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Arg671Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- LCA5 p.Arg80Gln Uncertain significance Single submitter
- LCA5 p.Arg84His Uncertain significance Single submitter
- LCA5 p.Arg94Gly Uncertain significance Single submitter
-
LCA5 p.Asn113His
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Asn251Ser Uncertain significance Single submitter
- LCA5 p.Asn356Ser Uncertain significance Single submitter
- LCA5 p.Asn450His Uncertain significance Single submitter
- LCA5 p.Asn50Ser Uncertain significance Single submitter
-
LCA5 p.Asn541His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Asn625His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Asn638Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Asn643Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LCA5 p.Asn89Ser Uncertain significance Single submitter
- LCA5 p.Asp367Asn Uncertain significance Single submitter
- LCA5 p.Asp418Asn Uncertain significance Single submitter
-
LCA5 p.Asp452Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Asp526Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- LCA5 p.Asp590Tyr Uncertain significance Single submitter
- LCA5 p.Asp689Ala Uncertain significance Single submitter
- LCA5 p.Asp689Gly Uncertain significance Single submitter
- LCA5 p.Cys321Tyr Uncertain significance Single submitter
- LCA5 p.Cys329Gly Uncertain significance Single submitter
- LCA5 p.Gln12Arg Uncertain significance Single submitter
-
LCA5 p.Gln12Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- LCA5 p.Gln275Arg Uncertain significance Single submitter
- LCA5 p.Gln275Lys Uncertain significance Single submitter
- LCA5 p.Gln31Arg Uncertain significance Single submitter
- LCA5 p.Gln369Lys Uncertain significance Single submitter
-
LCA5 p.Gln421Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LCA5 p.Gln449Arg Uncertain significance Single submitter
- LCA5 p.Gln607His Uncertain significance Single submitter
- LCA5 p.Gln63His Uncertain significance Single submitter
- LCA5 p.Glu156Val Uncertain significance Single submitter
-
LCA5 p.Glu229Gln
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Glu260Gly Uncertain significance Single submitter
- LCA5 p.Glu355Lys Uncertain significance Single submitter
-
LCA5 p.Glu423Gln
Uncertain significance
Single submitter
Leber congenital amaurosis
- LCA5 p.Glu423Lys Uncertain significance Single submitter
- LCA5 p.Glu459Lys Uncertain significance Single submitter
- LCA5 p.Glu599Asp Uncertain significance Single submitter
- LCA5 p.Gly332Ala Uncertain significance Single submitter
- LCA5 p.Gly332Glu Uncertain significance Single submitter
-
LCA5 p.Gly34Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
LCA5 p.Gly439Glu
Uncertain significance
Single submitter
optic atrophy
-
LCA5 p.Gly456Arg
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Gly534Glu Uncertain significance Single submitter
- LCA5 p.Gly591Cys Uncertain significance Single submitter
- LCA5 p.Gly632Arg Uncertain significance Single submitter
-
LCA5 p.Gly642Arg
Uncertain significance
Single submitter
Leber congenital amaurosis
- LCA5 p.His164Leu Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
-
LCA5 p.Ala425Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Arg163Cys Uncertain significance Multiple submitters
-
LCA5 p.Arg213Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Arg255Gln Uncertain significance Multiple submitters
-
LCA5 p.Arg84Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Glu217Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Glu229Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LCA5 p.Ser33Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LCA5 p.Ser37Leu Uncertain significance Multiple submitters
- LCA5 p.Ser583Cys Uncertain significance Multiple submitters
- LCA5 p.Ala212Pro Uncertain significance Single submitter
- LCA5 p.Ala561Pro Uncertain significance Single submitter
-
LCA5 p.Arg174Cys
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Arg183Trp Uncertain significance Single submitter
- LCA5 p.Arg218Gln Uncertain significance Single submitter
- LCA5 p.Arg290Ser Uncertain significance Single submitter
- LCA5 p.Arg301Leu Uncertain significance Single submitter
- LCA5 p.Arg697Ser Uncertain significance Single submitter
-
LCA5 p.Asp293Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LCA5 p.Asp98His Uncertain significance Single submitter
- LCA5 p.Gln455Pro Uncertain significance Single submitter
- LCA5 p.Ile239Thr Uncertain significance Single submitter
- LCA5 p.Ile297Met Uncertain significance Single submitter
-
LCA5 p.Leu221Val
Conflicting
Single submitter
LCA5-related disorder
- LCA5 p.Leu274Ile Uncertain significance Single submitter
-
LCA5 p.Leu478Pro
Uncertain significance
Single submitter
Leber congenital amaurosis 5
- LCA5 p.Lys145Glu Uncertain significance Single submitter
- LCA5 p.Lys231Asn Uncertain significance Single submitter
- LCA5 p.Phe150Ser Uncertain significance Single submitter
-
LCA5 p.Pro216Arg
Conflicting
Single submitter
Inborn genetic diseases
- LCA5 p.Ser178Phe Uncertain significance Single submitter
- LCA5 p.Ser559Pro Uncertain significance Single submitter
- LCA5 p.Val333Glu Uncertain significance Single submitter
-
LCA5 p.Arg237Ser
Uncertain significance
No assertion criteria
Leber congenital amaurosis 5
-
LCA5 p.Leu417Pro
Uncertain significance
No assertion criteria
Leber congenital amaurosis 5
-
LCA5 p.Lys177Asn
Uncertain significance
No assertion criteria
Leber congenital amaurosis 5
-
LCA5 p.Lys262Asn
Uncertain significance
No assertion criteria
Leber congenital amaurosis 5
All LCA5 variants
Pathogenic 70
- p.Arg255Ter Multiple submitters retinitis pigmentosa
- p.Arg280Ter Multiple submitters LCA5-related disorder
- p.Arg48Ter Multiple submitters Leber congenital amaurosis 5
- p.Cys353_Tyr354insTer Multiple submitters Leber congenital amaurosis 5
- p.Gln256Ter Multiple submitters Leber congenital amaurosis 5
- p.Gln279Ter Multiple submitters LCA5-related disorder
- p.Glu211fs Multiple submitters LCA5-related disorder
- p.Glu415Ter Multiple submitters LCA5-related disorder
- p.Glu457fs Multiple submitters Leber congenital amaurosis 5
- p.Lys15fs Multiple submitters Leber congenital amaurosis 5
- p.Pro384fs Multiple submitters LCA5-related disorder
- p.Tyr23Ter Multiple submitters Leber congenital amaurosis 5
- p.Tyr265Ter Multiple submitters LCA5-related disorder
- p.Ala16fs Single submitter
- p.Ala259fs Single submitter
- p.Arg238fs Single submitter
- p.Asn296fs Single submitter
- p.Asp11Ter Single submitter
- p.Asp494fs Single submitter
- p.Gln116Ter Single submitter Leber congenital amaurosis 5
- p.Gln123Ter Single submitter
- p.Gln179fs Single submitter
- p.Gln442Ter Single submitter
- p.Gln455Ter Single submitter
- p.Gln572Ter Single submitter
- p.Gln580Ter Single submitter
- p.Glu208fs Single submitter
- p.Glu291fs Single submitter Leber congenital amaurosis 5
- p.Glu291Ter Single submitter
- p.Glu343Ter Single submitter
- p.Glu389Ter Single submitter
- p.Glu396fs Single submitter
- p.Glu431fs Single submitter
- p.Glu459Ter Single submitter
- p.Glu477fs Single submitter
- p.Glu565fs Single submitter
- p.Glu585fs Single submitter
- p.Glu91Ter Single submitter
- p.Gly82fs Single submitter
- p.Ile209_Ser210insTer Single submitter
- p.Leu115Ter Single submitter
- p.Leu417fs Single submitter
- p.Leu428fs Single submitter
- p.Leu443fs Single submitter
- p.Leu608fs Single submitter Leber congenital amaurosis 5
- p.Lys223fs Single submitter
- p.Lys288fs Single submitter
- p.Lys391fs Single submitter
- p.Phe150_Glu151insTer Single submitter Leber congenital amaurosis
- p.Pro216fs Single submitter
- p.Pro65fs Single submitter
- p.Ser539Ter Single submitter
- p.Ser567Ter Single submitter
- p.Ser56fs Single submitter
- p.Ser56Ter Single submitter
- p.Thr101fs Single submitter
- p.Thr365fs Single submitter
- p.Thr438fs Single submitter
- p.Tyr23delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer Single submitter
- p.Tyr486fs Single submitter
- p.Tyr486Ter Single submitter
- p.Val189fs Single submitter
- p.Val557fs Single submitter
- p.Val81fs Single submitter
- c.(720+1_721-1 No assertion criteria inherited retinal dystrophy
- p.Gln204Ter No assertion criteria Leber congenital amaurosis 5
- p.Glu396Ter No assertion criteria Leber congenital amaurosis 5
- p.Glu496Ter No assertion criteria Leber congenital amaurosis 5
- p.Lys391Ter No assertion criteria Leber congenital amaurosis
- p.Pro493fs No assertion criteria Leber congenital amaurosis 5
Pathogenic/Likely pathogenic 31
- c.190+1G>A Multiple submitters LCA5-related disorder
- c.721-1G>A Multiple submitters Leber congenital amaurosis 5
- c.721-2A>T Multiple submitters LCA5-related disorder
- p.Ala184fs Multiple submitters Leber congenital amaurosis
- p.Ala319Thr Multiple submitters Leber congenital amaurosis 1 ⚠
- p.Ala425fs Multiple submitters Leber congenital amaurosis 5
- p.Arg218Ter Multiple submitters Leber congenital amaurosis 5
- p.Arg35Ter Multiple submitters Leber congenital amaurosis 5
- p.Arg482Ter Multiple submitters Leber congenital amaurosis 5
- p.Arg517fs Multiple submitters Leber congenital amaurosis 5
- p.Arg80Ter Multiple submitters LCA5-related disorder
- p.Asn251fs Multiple submitters Leber congenital amaurosis 5
- p.Asn318fs Multiple submitters LCA5-related disorder
- p.Asn50fs Multiple submitters Leber congenital amaurosis 5
- p.Glu13fs Multiple submitters Leber congenital amaurosis 5
- p.Glu460Ter Multiple submitters Leber congenital amaurosis 5
- p.Glu503Ter Multiple submitters LCA5-related disorder
- p.Leu203fs Multiple submitters Leber congenital amaurosis 5
- p.Leu489fs Multiple submitters LCA5-related disorder
- p.Leu577fs Multiple submitters Leber congenital amaurosis 5
- p.Lys172fs Multiple submitters Leber congenital amaurosis
- p.Lys586Ter Multiple submitters LCA5-related disorder
- p.Met1Ile Multiple submitters Leber congenital amaurosis
- p.Met1Thr Multiple submitters Leber congenital amaurosis
- p.Met1Val Multiple submitters Leber congenital amaurosis 5
- p.Pro487fs Multiple submitters LCA5-related disorder
- p.Ser135_Leu136insTer Multiple submitters Leber congenital amaurosis 5
- p.Ser249fs Multiple submitters Leber congenital amaurosis 5
- p.Ser37Ter Multiple submitters Leber congenital amaurosis 5
- p.Thr192fs Multiple submitters Leber congenital amaurosis 5
- p.Tyr354Ter Multiple submitters Leber congenital amaurosis 5
Likely pathogenic 55
- c.858+1G>C Multiple submitters Leber congenital amaurosis 5
- p.Asp269fs Multiple submitters Leber congenital amaurosis 5
- p.Gln334Ter Multiple submitters LCA5-related disorder
- p.Leu215fs Multiple submitters Leber congenital amaurosis 5
- c.1098+1G>A Single submitter
- c.1099-1G>A Single submitter Leber congenital amaurosis 5
- c.1099-2A>T Single submitter
- c.1099-4A>G Single submitter LCA5-related disorder
- c.720+1G>A Single submitter
- c.859-2A>G Single submitter Leber congenital amaurosis 5
- c.955+1G>A Single submitter Leber congenital amaurosis 5
- p.Ala44fs Single submitter Leber congenital amaurosis 5
- p.Ala602fs Single submitter LCA5-related disorder
- p.Arg14fs Single submitter Leber congenital amaurosis 5
- p.Arg430fs Single submitter Leber congenital amaurosis 5
- p.Arg476Ter Single submitter Leber congenital amaurosis 5
- p.Asn308fs Single submitter Leber congenital amaurosis 5
- p.Asn383fs Single submitter LCA5-related disorder
- p.Asn603_Leu604insTer Single submitter LCA5-related disorder
- p.Gln31fs Single submitter Leber congenital amaurosis 5
- p.Gln322Ter Single submitter Leber congenital amaurosis 5
- p.Gln421Ter Single submitter inherited retinal dystrophy
- p.Gln449Ter Single submitter Leber congenital amaurosis 5
- p.Gln479fs Single submitter Leber congenital amaurosis 5
- p.Glu229fs Single submitter Leber congenital amaurosis 5
- p.Glu236Ter Single submitter Leber congenital amaurosis 5
- p.Glu266fs Single submitter LCA5-related disorder
- p.Glu389fs Single submitter Leber congenital amaurosis 5
- p.Glu432Ter Single submitter LCA5-related disorder
- p.Glu599fs Single submitter LCA5-related disorder
- p.Glu599Ter Single submitter Leber congenital amaurosis 5
- p.His523fs Single submitter LCA5-related disorder
- p.Ile161Lys Single submitter LCA5-related disorder
- p.Ile527fs Single submitter Leber congenital amaurosis 5
- p.Leu129fs Single submitter Leber congenital amaurosis 5
- p.Leu242Arg Single submitter LCA5-related disorder
- p.Leu328fs Single submitter Leber congenital amaurosis 5
- p.Leu518Ter Single submitter Leber congenital amaurosis 5
- p.Lys134fs Single submitter Leber congenital amaurosis 5
- p.Lys18delinsIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter Leber congenital amaurosis 5
- p.Lys340fs Single submitter
- p.Phe579fs Single submitter Leber congenital amaurosis 5
- p.Pro548fs Single submitter Leber congenital amaurosis 5
- p.Ser202Pro Single submitter Leber congenital amaurosis 5
- p.Ser41fs Single submitter Leber congenital amaurosis 5
- p.Ser497Ter Single submitter Leber congenital amaurosis 5
- p.Ser559fs Single submitter Leber congenital amaurosis 5
- p.Ser559Ter Single submitter retinal disorder
- p.Ser621fs Single submitter Leber congenital amaurosis 5
- p.Trp358Ter Single submitter Leber congenital amaurosis 5
- p.Trp412Ter Single submitter Leber congenital amaurosis 5
- p.Tyr141Ter Single submitter Leber congenital amaurosis 5
- p.Tyr509fs Single submitter Leber congenital amaurosis 5
- p.Glu132Gly No assertion criteria Leber congenital amaurosis 5
- p.Glu516fs No assertion criteria Leber congenital amaurosis 5
Conflicting classifications of pathogenicity 36
- c.1099-13T>A Single submitter
- c.1231+17_1231+20del Single submitter
- c.721-3T>C Single submitter
- c.859-12G>A Single submitter Leber congenital amaurosis 5
- c.-398G>C Single submitter Leber congenital amaurosis 5
- p.Ala222Pro Single submitter LCA5-related disorder ⚠
- p.Ala552= Single submitter Leber congenital amaurosis 5
- p.Ala552Thr Single submitter Inborn genetic diseases ⚠
- p.Arg301His Single submitter Leber congenital amaurosis 5
- p.Arg482Gln Single submitter ⚠
- p.Arg94Gln Single submitter Leber congenital amaurosis 5 ⚠
- p.Asn113Ser Single submitter Leber congenital amaurosis 5 ⚠
- p.Asn582= Single submitter Leber congenital amaurosis 5
- p.Asp590Gly Single submitter Leber congenital amaurosis 5 ⚠
- p.Asp676= Single submitter Leber congenital amaurosis 5
- p.Asp676Tyr Single submitter Leber congenital amaurosis 5 ⚠
- p.Asp677Asn Single submitter Inborn genetic diseases ⚠
- p.Gln607fs Single submitter Leber congenital amaurosis 5
- p.Glu13Gly Single submitter Leber congenital amaurosis 5 ⚠
- p.Glu360= Single submitter Leber congenital amaurosis 5
- p.Leu196= Single submitter Leber congenital amaurosis 5
- p.Leu221Val Single submitter LCA5-related disorder ⚠
- p.Leu366Ser Single submitter Leber congenital amaurosis 5 ⚠
- p.Leu499= Single submitter Leber congenital amaurosis 5
- p.Lys134Thr Single submitter retinitis pigmentosa
- p.Lys420= Single submitter Leber congenital amaurosis 5
- p.Lys600= Single submitter Leber congenital amaurosis 5
- p.Met1Leu Single submitter Leber congenital amaurosis 5
- p.Pro216Arg Single submitter Inborn genetic diseases ⚠
- p.Pro307Ala Single submitter Inborn genetic diseases ⚠
- p.Pro548Ser Single submitter Leber congenital amaurosis 5 ⚠
- p.Ser36= Single submitter Leber congenital amaurosis 5
- p.Ser559= Single submitter Leber congenital amaurosis 5
- p.Thr29Met Single submitter ⚠
- p.Tyr354= Single submitter Leber congenital amaurosis 5
- p.Val405= Single submitter Leber congenital amaurosis
Benign 12
- c.-62A>G Multiple submitters Leber congenital amaurosis 5
- c.*223A>G Multiple submitters Leber congenital amaurosis 5
- p.Asp26Ala Multiple submitters Leber congenital amaurosis 5
- p.Gly656Asp Multiple submitters Leber congenital amaurosis 1
- c.1099-13del Single submitter
- c.1099-13dup Single submitter
- c.859-4dup Single submitter
- c.-334C>T Single submitter Leber congenital amaurosis 5
- c.*1114_*1116del Single submitter
- c.*1292A>G Single submitter Leber congenital amaurosis 5
- p.Arg66Gln Single submitter Leber congenital amaurosis
- p.Ile527Val Single submitter Leber congenital amaurosis
Benign/Likely benign 7
- c.1099-12A>G Multiple submitters Leber congenital amaurosis 5
- c.191-3del Multiple submitters
- c.859-12G>C Multiple submitters Leber congenital amaurosis 5
- p.Gln256= Multiple submitters Leber congenital amaurosis 5
- p.His214= Multiple submitters Leber congenital amaurosis 5
- p.Ile595= Multiple submitters Leber congenital amaurosis 5
- p.Pro361= Multiple submitters Leber congenital amaurosis
Likely benign 325
Showing the top 300 by review status; the full set is in the sitemap.
- c.1098+12A>C Multiple submitters
- c.1099-10C>T Multiple submitters
- c.1099-9G>A Multiple submitters Leber congenital amaurosis
- c.1231+14T>C Multiple submitters
- c.1232-15T>A Multiple submitters
- c.190+16A>G Multiple submitters
- c.191-15C>A Multiple submitters
- c.191-9del Multiple submitters
- c.721-15del Multiple submitters
- c.858+19A>G Multiple submitters
- c.858+7A>T Multiple submitters
- c.859-13C>T Multiple submitters
- c.859-14G>A Multiple submitters
- c.*1300G>A Multiple submitters Leber congenital amaurosis 5
- c.*1495G>A Multiple submitters Leber congenital amaurosis 5
- c.*1528G>A Multiple submitters Leber congenital amaurosis 5
- p.Ala153= Multiple submitters
- p.Asn245= Multiple submitters Leber congenital amaurosis 5
- p.Asn271= Multiple submitters
- p.Asp633= Multiple submitters
- p.Gln525= Multiple submitters
- p.Gln537= Multiple submitters
- p.Glu266= Multiple submitters
- p.Glu359= Multiple submitters
- p.Glu565= Multiple submitters
- p.Glu692= Multiple submitters
- p.Gly377= Multiple submitters
- p.Gly521= Multiple submitters
- p.Leu225= Multiple submitters
- p.Leu640= Multiple submitters
- p.Phe253= Multiple submitters Leber congenital amaurosis 5
- p.Ser37= Multiple submitters
- p.Ser615Gly Multiple submitters Leber congenital amaurosis
- p.Thr192= Multiple submitters
- p.Thr29= Multiple submitters
- p.Thr55= Multiple submitters Leber congenital amaurosis
- p.Tyr23= Multiple submitters
- p.Tyr441= Multiple submitters
- p.Tyr556= Multiple submitters Leber congenital amaurosis
- p.Val119= Multiple submitters
- p.Val226= Multiple submitters
- c.1098+10G>A Single submitter
- c.1098+12A>G Single submitter
- c.1098+19T>G Single submitter
- c.1098+20T>C Single submitter
- c.1098+9A>G Single submitter
- c.1099-12A>T Single submitter
- c.1099-16T>G Single submitter
- c.1099-9G>C Single submitter
- c.1099-9G>T Single submitter
- c.1231+13G>C Single submitter
- c.1231+16_1231+20del Single submitter
- c.1231+9_1231+10del Single submitter
- c.1232-11A>G Single submitter
- c.1232-12G>T Single submitter
- c.1232-14T>A Single submitter
- c.1232-14T>C Single submitter
- c.1232-16A>T Single submitter
- c.1232-5T>C Single submitter
- c.1232-6A>T Single submitter
- c.1232-9T>C Single submitter
- c.190+14A>G Single submitter
- c.190+16_190+17del Single submitter
- c.190+19A>G Single submitter
- c.190+7A>G Single submitter
- c.191-12T>A Single submitter
- c.191-12T>C Single submitter
- c.191-17T>C Single submitter
- c.191-6T>C Single submitter
- c.191-7T>C Single submitter
- c.720+12A>G Single submitter
- c.720+13C>T Single submitter
- c.720+14A>G Single submitter
- c.720+16C>G Single submitter
- c.720+16C>T Single submitter
- c.720+9del Single submitter
- c.721-13_721-8del Single submitter
- c.721-16G>A Single submitter
- c.721-17T>C Single submitter
- c.721-18A>T Single submitter
- c.721-4A>C Single submitter
- c.721-6A>G Single submitter
- c.721-6A>T Single submitter
- c.721-8A>G Single submitter
- c.858+10T>C Single submitter
- c.858+11T>C Single submitter
- c.858+14A>T Single submitter
- c.858+18C>T Single submitter
- c.858+3_858+7dup Single submitter
- c.858+8T>C Single submitter
- c.859-10T>A Single submitter
- c.859-15T>C Single submitter
- c.955+13T>A Single submitter
- c.955+16T>C Single submitter
- c.955+8A>T Single submitter
- c.956-20A>T Single submitter
- c.956-5del Single submitter Leber congenital amaurosis 5
- c.956-7A>C Single submitter
- c.956-8C>A Single submitter
- c.956-8C>T Single submitter
- p.Ala127= Single submitter
- p.Ala16= Single submitter
- p.Ala170= Single submitter Leber congenital amaurosis 5
- p.Ala222= Single submitter
- p.Ala228= Single submitter
- p.Ala264= Single submitter
- p.Ala314= Single submitter
- p.Ala320= Single submitter
- p.Ala379= Single submitter
- p.Ala425= Single submitter
- p.Ala611= Single submitter
- p.Ala628= Single submitter
- p.Ala64= Single submitter
- p.Ala675= Single submitter
- p.Ala680= Single submitter
- p.Ala695= Single submitter
- p.Arg108= Single submitter
- p.Arg14= Single submitter
- p.Arg174= Single submitter
- p.Arg183= Single submitter
- p.Arg188= Single submitter
- p.Arg218= Single submitter Leber congenital amaurosis 5
- p.Arg280= Single submitter
- p.Arg290= Single submitter
- p.Arg388= Single submitter
- p.Arg4= Single submitter
- p.Arg414= Single submitter Leber congenital amaurosis 5
- p.Arg47= Single submitter
- p.Arg476= Single submitter
- p.Arg48Gly Single submitter Inborn genetic diseases
- p.Arg517= Single submitter
- p.Arg566= Single submitter
- p.Arg669= Single submitter
- p.Arg671= Single submitter
- p.Arg697= Single submitter
- p.Arg84= Single submitter
- p.Arg90= Single submitter
- p.Asn133= Single submitter
- p.Asn296= Single submitter
- p.Asn356= Single submitter
- p.Asn383= Single submitter
- p.Asn472= Single submitter
- p.Asn520= Single submitter
- p.Asn541= Single submitter
- p.Asn549= Single submitter
- p.Asn668= Single submitter
- p.Asn75= Single submitter
- p.Asp191= Single submitter
- p.Asp269= Single submitter
- p.Asp367= Single submitter Leber congenital amaurosis
- p.Asp374= Single submitter
- p.Asp395= Single submitter
- p.Asp418= Single submitter
- p.Asp480= Single submitter
- p.Asp635= Single submitter
- p.Asp689= Single submitter
- p.Asp96= Single submitter
- p.Gln140= Single submitter
- p.Gln143= Single submitter
- p.Gln204= Single submitter
- p.Gln279= Single submitter
- p.Gln334= Single submitter
- p.Gln369= Single submitter
- p.Gln371= Single submitter Leber congenital amaurosis 5
- p.Gln449= Single submitter
- p.Gln455= Single submitter
- p.Gln479= Single submitter
- p.Gln649= Single submitter
- p.Glu118= Single submitter
- p.Glu128= Single submitter
- p.Glu144= Single submitter
- p.Glu173= Single submitter
- p.Glu195= Single submitter
- p.Glu241= Single submitter
- p.Glu310= Single submitter
- p.Glu349= Single submitter
- p.Glu387= Single submitter
- p.Glu397= Single submitter
- p.Glu404= Single submitter
- p.Glu411= Single submitter
- p.Glu431= Single submitter
- p.Glu459= Single submitter
- p.Glu465= Single submitter
- p.Glu503= Single submitter
- p.Glu599= Single submitter
- p.Glu650= Single submitter
- p.Glu661= Single submitter
- p.Glu693= Single submitter
- p.Glu91= Single submitter
- p.Gly2= Single submitter
- p.Gly534= Single submitter
- p.Gly536= Single submitter
- p.Gly6= Single submitter
- p.Gly610= Single submitter
- p.Gly613= Single submitter
- p.Gly632= Single submitter
- p.Gly642= Single submitter
- p.Gly82= Single submitter
- p.Gly9= Single submitter
- p.His268= Single submitter
- p.His376= Single submitter
- p.His399= Single submitter
- p.His500= Single submitter
- p.His670= Single submitter
- p.Ile104= Single submitter
- p.Ile112= Single submitter
- p.Ile168= Single submitter
- p.Ile209= Single submitter
- p.Ile351= Single submitter
- p.Ile527= Single submitter
- p.Leu109= Single submitter
- p.Leu115= Single submitter
- p.Leu122= Single submitter
- p.Leu129= Single submitter
- p.Leu130= Single submitter
- p.Leu136= Single submitter
- p.Leu147= Single submitter Leber congenital amaurosis
- p.Leu203= Single submitter
- p.Leu242= Single submitter
- p.Leu246= Single submitter
- p.Leu248= Single submitter
- p.Leu24Ser Single submitter
- p.Leu281= Single submitter
- p.Leu328= Single submitter
- p.Leu364= Single submitter
- p.Leu368= Single submitter
- p.Leu38= Single submitter
- p.Leu408= Single submitter
- p.Leu417= Single submitter
- p.Leu428= Single submitter
- p.Leu443= Single submitter
- p.Leu454= Single submitter
- p.Leu467= Single submitter
- p.Leu468= Single submitter
- p.Leu471= Single submitter
- p.Leu484= Single submitter
- p.Leu491= Single submitter
- p.Leu604= Single submitter
- p.Leu608= Single submitter
- p.Leu637= Single submitter
- p.Leu659= Single submitter
- p.Leu672= Single submitter
- p.Lys134= Single submitter
- p.Lys137= Single submitter
- p.Lys145= Single submitter
- p.Lys149= Single submitter
- p.Lys177= Single submitter
- p.Lys181= Single submitter
- p.Lys205= Single submitter
- p.Lys207= Single submitter
- p.Lys223= Single submitter
- p.Lys262= Single submitter
- p.Lys272= Single submitter
- p.Lys288= Single submitter
- p.Lys304= Single submitter
- p.Lys311= Single submitter
- p.Lys331= Single submitter
- p.Lys340= Single submitter
- p.Lys424= Single submitter
- p.Lys52= Single submitter
- p.Lys573= Single submitter
- p.Lys631= Single submitter
- p.Lys673= Single submitter
- p.Phe551= Single submitter
- p.Phe579= Single submitter
- p.Phe658= Single submitter
- p.Pro30= Single submitter
- p.Pro303= Single submitter
- p.Pro345= Single submitter
- p.Pro348= Single submitter
- p.Pro384= Single submitter
- p.Pro434= Single submitter
- p.Pro487= Single submitter
- p.Pro490= Single submitter
- p.Pro506= Single submitter Leber congenital amaurosis 5
- p.Pro532= Single submitter
- p.Pro569= Single submitter
- p.Pro65= Single submitter
- p.Pro68= Single submitter
- p.Pro70= Single submitter
- p.Pro74= Single submitter
- p.Pro92= Single submitter
- p.Ser106= Single submitter
- p.Ser135= Single submitter
- p.Ser158= Single submitter Leber congenital amaurosis 5
- p.Ser202= Single submitter
- p.Ser243= Single submitter
- p.Ser25= Single submitter
- p.Ser252= Single submitter
- p.Ser299= Single submitter Leber congenital amaurosis
- p.Ser41= Single submitter
- p.Ser426= Single submitter
- p.Ser45= Single submitter
- p.Ser512= Single submitter
- p.Ser514= Single submitter
- p.Ser515= Single submitter
- p.Ser547= Single submitter
- p.Ser564= Single submitter
- p.Ser588= Single submitter
- p.Ser618= Single submitter
Uncertain significance 372
Showing the top 300 by review status; the full set is in the sitemap.
- c.191-3T>A Multiple submitters Leber congenital amaurosis 5
- c.858+5G>C Multiple submitters Leber congenital amaurosis
- c.-414C>T Multiple submitters Leber congenital amaurosis 5
- c.*1044A>C Multiple submitters Leber congenital amaurosis 5
- c.*29G>T Multiple submitters Leber congenital amaurosis 5
- c.*344T>C Multiple submitters Leber congenital amaurosis 5
- p.Ala107Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala425Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala683Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg103Gln Multiple submitters ⚠
- p.Arg103Trp Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Arg163Cys Multiple submitters ⚠
- p.Arg163His Multiple submitters Inborn genetic diseases ⚠
- p.Arg174His Multiple submitters Inborn genetic diseases ⚠
- p.Arg183Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg213Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg255Gln Multiple submitters ⚠
- p.Arg375Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg414Ile Multiple submitters ⚠
- p.Arg669Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg669Met Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Arg66Trp Multiple submitters ⚠
- p.Arg671Ter Multiple submitters
- p.Arg84Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg94Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn166Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn271Ser Multiple submitters ⚠
- p.Asn472Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn638Asp Multiple submitters inherited retinal dystrophy ⚠
- p.Asp233Val Multiple submitters Inborn genetic diseases
- p.Asp269Gly Multiple submitters ⚠
- p.Asp475Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp494Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp593Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp677Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln254Arg Multiple submitters ⚠
- p.Gln63Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu217Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu229Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu236Lys Multiple submitters Leber congenital amaurosis
- p.Glu3Lys Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Glu473Ala Multiple submitters ⚠
- p.Glu503Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu550Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly362Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly380Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly534Arg Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Gly554Ala Multiple submitters
- p.Gly9Asp Multiple submitters ⚠
- p.His164Arg Multiple submitters ⚠
- p.His61Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile112Val Multiple submitters
- p.Ile157Val Multiple submitters Inborn genetic diseases
- p.Ile527Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu171Phe Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Leu246Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu292Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu88Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys102Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys340Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys71Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys77Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met352Val Multiple submitters Inborn genetic diseases ⚠
- p.Met386Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met386Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met466Arg Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Phe511Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe609Leu Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Phe657Ser Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Pro307Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro532Arg Multiple submitters ⚠
- p.Pro532Leu Multiple submitters ⚠
- p.Pro70Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro74Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser243Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser33Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser37Leu Multiple submitters ⚠
- p.Ser497Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser505Ile Multiple submitters ⚠
- p.Ser583Cys Multiple submitters ⚠
- p.Ser621Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser686Cys Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Ser7Gly Multiple submitters Inborn genetic diseases ⚠
- p.Thr101Ala Multiple submitters ⚠
- p.Thr192Ile Multiple submitters Inborn genetic diseases
- p.Thr199Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr350Ile Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Thr394Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr596Ile Multiple submitters Inborn genetic diseases ⚠
- p.Trp412Cys Multiple submitters ⚠
- p.Tyr282Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr298Phe Multiple submitters
- p.Val401Ile Multiple submitters Leber congenital amaurosis 5 ⚠
- p.Val46Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val557Met Multiple submitters Leber congenital amaurosis 5 ⚠
- c.1098+3G>T Single submitter
- c.1098+4A>C Single submitter
- c.1231+6A>G Single submitter
- c.190+5G>C Single submitter
- c.858+5G>A Single submitter
- c.-191-6065C>A Single submitter Leber congenital amaurosis 5
- c.-192+62T>G Single submitter Leber congenital amaurosis 5
- c.-200G>A Single submitter Leber congenital amaurosis 5
- c.-264A>C Single submitter Leber congenital amaurosis 5
- c.-304A>T Single submitter Leber congenital amaurosis 5
- c.-348C>T Single submitter Leber congenital amaurosis 5
- c.-398G>T Single submitter Leber congenital amaurosis 5
- c.-39T>C Single submitter Leber congenital amaurosis 5
- c.-400G>T Single submitter Leber congenital amaurosis 5
- c.-424C>G Single submitter Leber congenital amaurosis 5
- c.-429G>A Single submitter Leber congenital amaurosis 5
- c.*1002A>G Single submitter Leber congenital amaurosis 5
- c.*1103T>C Single submitter Leber congenital amaurosis 5
- c.*1113G>A Single submitter Leber congenital amaurosis 5
- c.*1137G>T Single submitter Leber congenital amaurosis 5
- c.*1191T>G Single submitter Leber congenital amaurosis 5
- c.*1204A>C Single submitter Leber congenital amaurosis 5
- c.*1232T>G Single submitter Leber congenital amaurosis 5
- c.*1234A>C Single submitter Leber congenital amaurosis 5
- c.*1261A>G Single submitter Leber congenital amaurosis 5
- c.*1316C>T Single submitter Leber congenital amaurosis 5
- c.*1326A>G Single submitter Leber congenital amaurosis 5
- c.*1385T>C Single submitter Leber congenital amaurosis 5
- c.*1543T>C Single submitter Leber congenital amaurosis 5
- c.*1559T>C Single submitter Leber congenital amaurosis 5
- c.*1573A>G Single submitter Leber congenital amaurosis 5
- c.*1577T>G Single submitter Leber congenital amaurosis 5
- c.*1680C>A Single submitter Leber congenital amaurosis 5
- c.*1752G>A Single submitter Leber congenital amaurosis 5
- c.*1777T>A Single submitter Leber congenital amaurosis 5
- c.*1851A>G Single submitter Leber congenital amaurosis 5
- c.*464C>T Single submitter Leber congenital amaurosis 5
- c.*473T>C Single submitter Leber congenital amaurosis 5
- c.*497G>A Single submitter Leber congenital amaurosis 5
- c.*617T>C Single submitter Leber congenital amaurosis 5
- c.*628T>G Single submitter Leber congenital amaurosis 5
- c.*634A>C Single submitter Leber congenital amaurosis 5
- c.*640T>C Single submitter Leber congenital amaurosis 5
- c.*719A>G Single submitter Leber congenital amaurosis 5
- c.*763A>G Single submitter Leber congenital amaurosis 5
- c.*815A>C Single submitter Leber congenital amaurosis 5
- c.*838C>G Single submitter Leber congenital amaurosis 5
- c.*842A>G Single submitter Leber congenital amaurosis 5
- c.*874A>G Single submitter Leber congenital amaurosis 5
- c.*875A>G Single submitter Leber congenital amaurosis 5
- c.*892A>G Single submitter Leber congenital amaurosis 5
- c.*903A>G Single submitter Leber congenital amaurosis 5
- c.*91A>G Single submitter Leber congenital amaurosis 5
- c.*958G>A Single submitter Leber congenital amaurosis 5
- p.Ala153Val Single submitter ⚠
- p.Ala184Val Single submitter Leber congenital amaurosis 5 ⚠
- p.Ala212Pro Single submitter ⚠
- p.Ala212Ser Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala264Ser Single submitter Leber congenital amaurosis 5 ⚠
- p.Ala264Thr Single submitter Inborn genetic diseases ⚠
- p.Ala264Val Single submitter Inborn genetic diseases ⚠
- p.Ala425Ser Single submitter Inborn genetic diseases ⚠
- p.Ala552Pro Single submitter Inborn genetic diseases ⚠
- p.Ala561Pro Single submitter ⚠
- p.Ala602Gly Single submitter Leber congenital amaurosis ⚠
- p.Ala628Ser Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Ala684Pro Single submitter ⚠
- p.Ala684Val Single submitter ⚠
- p.Ala695Thr Single submitter Leber congenital amaurosis 5 ⚠
- p.Arg138Lys Single submitter ⚠
- p.Arg142Lys Single submitter ⚠
- p.Arg174Cys Single submitter Leber congenital amaurosis 5 ⚠
- p.Arg174Gly Single submitter Leber congenital amaurosis 5 ⚠
- p.Arg176del Single submitter Leber congenital amaurosis 5
- p.Arg183Trp Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg237Gly Single submitter Inborn genetic diseases
- p.Arg280Gln Single submitter Leber congenital amaurosis 5 ⚠
- p.Arg290Ser Single submitter ⚠
- p.Arg301Leu Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Arg430Lys Single submitter ⚠
- p.Arg440Lys Single submitter ⚠
- p.Arg47Gly Single submitter ⚠
- p.Arg4Gly Single submitter Leber congenital amaurosis 5 ⚠
- p.Arg517Ile Single submitter Leber congenital amaurosis ⚠
- p.Arg597Lys Single submitter ⚠
- p.Arg647Ser Single submitter ⚠
- p.Arg671Gln Single submitter Inborn genetic diseases ⚠
- p.Arg671Pro Single submitter Inborn genetic diseases ⚠
- p.Arg697Ser Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg84His Single submitter ⚠
- p.Arg84Pro Single submitter
- p.Arg94Gly Single submitter ⚠
- p.Asn113His Single submitter Leber congenital amaurosis 5 ⚠
- p.Asn251Ser Single submitter ⚠
- p.Asn356Ser Single submitter ⚠
- p.Asn450His Single submitter ⚠
- p.Asn50Ser Single submitter ⚠
- p.Asn541His Single submitter Inborn genetic diseases ⚠
- p.Asn625His Single submitter Inborn genetic diseases ⚠
- p.Asn638Lys Single submitter Inborn genetic diseases ⚠
- p.Asn643Ser Single submitter Inborn genetic diseases ⚠
- p.Asn89Ser Single submitter ⚠
- p.Asp152Gly Single submitter
- p.Asp293Val Single submitter Inborn genetic diseases ⚠
- p.Asp367Asn Single submitter ⚠
- p.Asp418Asn Single submitter ⚠
- p.Asp452Gly Single submitter Inborn genetic diseases ⚠
- p.Asp526Gly Single submitter Inborn genetic diseases ⚠
- p.Asp590Tyr Single submitter ⚠
- p.Asp689Ala Single submitter ⚠
- p.Asp689Gly Single submitter ⚠
- p.Asp98His Single submitter ⚠
- p.Cys321Tyr Single submitter ⚠
- p.Cys329Gly Single submitter ⚠
- p.Gln12Arg Single submitter ⚠
- p.Gln12Glu Single submitter Inborn genetic diseases ⚠
- p.Gln143His Single submitter
- p.Gln254del Single submitter
- p.Gln275Arg Single submitter ⚠
- p.Gln275Lys Single submitter ⚠
- p.Gln31Arg Single submitter ⚠
- p.Gln369Lys Single submitter ⚠
- p.Gln421Arg Single submitter Inborn genetic diseases ⚠
- p.Gln449Arg Single submitter ⚠
- p.Gln455Pro Single submitter ⚠
- p.Gln607His Single submitter ⚠
- p.Gln63His Single submitter ⚠
- p.Glu154Lys Single submitter Leber congenital amaurosis 5
- p.Glu156Val Single submitter ⚠
- p.Glu186Lys Single submitter
- p.Glu229Gln Single submitter Leber congenital amaurosis 5 ⚠
- p.Glu260Gly Single submitter ⚠
- p.Glu277Lys Single submitter
- p.Glu355Lys Single submitter ⚠
- p.Glu423Gln Single submitter Leber congenital amaurosis ⚠
- p.Glu423Lys Single submitter ⚠
- p.Glu459Lys Single submitter ⚠
- p.Glu535del Single submitter
- p.Glu599Asp Single submitter ⚠
- p.Glu693del Single submitter
- p.Gly332Ala Single submitter ⚠
- p.Gly332Glu Single submitter ⚠
- p.Gly34Asp Single submitter Inborn genetic diseases ⚠
- p.Gly439Glu Single submitter optic atrophy ⚠
- p.Gly456Arg Single submitter Leber congenital amaurosis 5 ⚠
- p.Gly534Glu Single submitter ⚠
- p.Gly591Cys Single submitter ⚠
- p.Gly632Arg Single submitter ⚠
- p.Gly642Arg Single submitter Leber congenital amaurosis ⚠
- p.His164Leu Single submitter ⚠
- p.His20Tyr Single submitter ⚠
- p.His214Tyr Single submitter Inborn genetic diseases ⚠
- p.His522Arg Single submitter ⚠
- p.His62Asp Single submitter ⚠
- p.His62Gln Single submitter Leber congenital amaurosis 5 ⚠
- p.His62Leu Single submitter Inborn genetic diseases ⚠
- p.His651Arg Single submitter Leber congenital amaurosis 5 ⚠
- p.His670_Arg671insTer Single submitter
- p.His674fs Single submitter
- p.Ile239Thr Single submitter ⚠
- p.Ile294Met Single submitter ⚠
- p.Ile297Met Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Leu274Ile Single submitter ⚠
- p.Leu328Pro Single submitter ⚠
- p.Leu364His Single submitter ⚠
- p.Leu428Pro Single submitter ⚠
- p.Leu478Pro Single submitter Leber congenital amaurosis 5 ⚠
- p.Leu489Trp Single submitter Inborn genetic diseases ⚠
- p.Leu608del Single submitter
- p.Leu696Pro Single submitter Leber congenital amaurosis 5 ⚠
- p.Leu93Phe Single submitter ⚠
- p.Lys102= Single submitter
- p.Lys102Glu Single submitter
- p.Lys145Glu Single submitter ⚠
- p.Lys15Arg Single submitter ⚠
- p.Lys231Asn Single submitter ⚠
- p.Lys240= Single submitter
- p.Lys244Arg Single submitter ⚠
- p.Lys276Arg Single submitter Leber congenital amaurosis ⚠
- p.Lys309Thr Single submitter ⚠
- p.Lys331Arg Single submitter ⚠
- p.Lys391Glu Single submitter Inborn genetic diseases ⚠
- p.Lys422Thr Single submitter ⚠
- p.Lys424Asn Single submitter ⚠
- p.Lys470Glu Single submitter ⚠
- p.Lys586Glu Single submitter ⚠
- p.Lys598Asn Single submitter Inborn genetic diseases ⚠
- p.Lys678Thr Single submitter Leber congenital amaurosis 5 ⚠
- p.Lys71Glu Single submitter Leber congenital amaurosis 5 ⚠
- p.Met336Val Single submitter ⚠
- p.Met352Thr Single submitter Leber congenital amaurosis 5 ⚠
- p.Met445Ile Single submitter ⚠
- p.Phe150Ser Single submitter ⚠
- p.Phe162Leu Single submitter Leber congenital amaurosis ⚠
- p.Phe339Ser Single submitter Leber congenital amaurosis 5 ⚠
- p.Phe576Ser Single submitter Leber congenital amaurosis 5 ⚠
- p.Phe576Val Single submitter ⚠
- p.Pro303Leu Single submitter ⚠
- p.Pro345Ser Single submitter ⚠