AIPL1 — 572 ClinVar variants

All ClinVar germline AIPL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →

47 Pathogenic · 4 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 27 Conflicting · 37 Benign · 11 Benign/Likely benign · 179 Likely benign · 240 Uncertain significance

Full AIPL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 188

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.

AIPL1 p.Gly262Ser Pathogenic Expert panel
AIPL1-related retinopathy
AIPL1 p.Gln155His Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 4

Predictors agree, ClinVar conflicts 6

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

AIPL1 p.Ala364Thr Conflicting Single submitter
Inborn genetic diseases
AIPL1 p.Arg302Leu Conflicting Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ile206Val Conflicting Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ile74Thr Conflicting Single submitter
Inborn genetic diseases
AIPL1 p.Met126Lys Conflicting Single submitter
retinitis pigmentosa
AIPL1 p.Tyr246Ser Conflicting Single submitter
retinitis pigmentosa

Predictors lean, ClinVar uncertain 84

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

AIPL1 p.Arg272Pro Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Val118Met Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Ala352Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Arg46Pro Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Asn125Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Gln238His Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Glu276Asp Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Gly379Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.His119Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.His172Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.His82Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Ile49Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Met175Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Pro375Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Ser31Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Ser377Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Val180Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Ala128Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ala266Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ala368Thr Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Arg102Gly Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg105Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg193His Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg193Pro Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Arg193Ser Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg270Ser Uncertain significance Single submitter
AIPL1 p.Arg306Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg311Gly Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Arg311His Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg322Pro Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg32Pro Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg80Gln Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Asn8Ser Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Asp136Asn Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Asp138His Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Asp255Tyr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Asp286Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Asp90Asn Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Gln212His Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu152Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu244Gln Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu317Lys Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Glu83Gln Uncertain significance Single submitter
AIPL1 p.Gly122Glu Uncertain significance Single submitter
AIPL1 p.Gly183Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Gly192Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Gly20Asp Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Gly20Val Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Gly262Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Gly379Ala Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.His117Gln Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ile16Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ile256Ser Uncertain significance Single submitter
AIPL1 p.Ile92Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ile99Met Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu100Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu100Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu208Pro Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu211Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu257Pro Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Leu307Pro Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu382Gln Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu76Pro Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Lys190Asn Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Lys242Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Met312Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Met40Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Met40Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Met79Ile Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Phe127Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro367Ser Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro375Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro376Ala Uncertain significance Single submitter
AIPL1 p.Pro378Ser Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ser254Asn Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ser328Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ser346Pro Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Thr356Ala Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Tyr247Cys Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Val269Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Val290Gly Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Val71Gly Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Val81Met Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Val96Phe Uncertain significance Single submitter
Leber congenital amaurosis 4

Predictors split 96

The independent predictors disagree with each other — read with care.

AIPL1 p.Ala128Val Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Ala266Ser Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Ala285Thr Likely benign Expert panel
AIPL1-related retinopathy
AIPL1 p.Arg187Trp Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Arg311Cys Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Arg38Cys Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Arg53Trp Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Asp90His Benign Expert panel
AIPL1-related retinopathy
AIPL1 p.Pro25Thr Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Pro58Thr Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Thr114Ile Benign Expert panel
AIPL1-related retinopathy
AIPL1 p.Thr94Met Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Tyr134Phe Benign Expert panel
AIPL1-related retinopathy
AIPL1 p.Val290Leu Uncertain significance Expert panel
AIPL1-related retinopathy
AIPL1 p.Ala364Ser Uncertain significance Multiple submitters
AIPL1-related retinopathy
AIPL1 p.Ala371Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Arg102Gln Uncertain significance Multiple submitters
retinitis pigmentosa
AIPL1 p.Arg102Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Arg320Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Arg38His Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Arg53Gln Uncertain significance Multiple submitters
AIPL1-related retinopathy
AIPL1 p.Arg80Trp Pathogenic/Likely pathogenic Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Glu135Lys Likely benign Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Glu317Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Glu353Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Glu361Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Glu86Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Leu188Phe Uncertain significance Multiple submitters
retinitis pigmentosa
AIPL1 p.Met59Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Met66Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Pro342Ser Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Pro343Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Pro351Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Thr120Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Thr120Met Uncertain significance Multiple submitters
retinitis pigmentosa
AIPL1 p.Thr21Met Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Thr332Met Uncertain significance Multiple submitters
Inborn genetic diseases
AIPL1 p.Val220Met Uncertain significance Multiple submitters
Leber congenital amaurosis 4
AIPL1 p.Ala108Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ala273Ser Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ala313Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ala313Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ala344Pro Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Ala344Ser Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg193Cys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg258Gly Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg258Trp Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg306Gly Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Arg306Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg32Gln Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg46Gln Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg46Trp Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Gln288His Uncertain significance Single submitter
AIPL1 p.Glu165Gln Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Glu173Asp Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu196Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu23Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu251Gly Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Glu294Gln Uncertain significance Single submitter
AIPL1 p.Glu349Gly Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Glu361Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu373Lys Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Glu44Val Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu70Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Glu86Lys Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Gly19Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.His130Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.His182Gln Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.His82Tyr Conflicting Single submitter
inherited retinal dystrophy
AIPL1 p.Ile205Met Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Leu69Phe Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Leu7Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Lys68Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Lys68Gln Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Pro159Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro159Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro295Arg Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro295Gln Uncertain significance Single submitter
Inborn genetic diseases
AIPL1 p.Pro295Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro335Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro354Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro366Thr Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro367Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Pro370Ser Conflicting Single submitter
retinitis pigmentosa
AIPL1 p.Ser198Phe Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Thr131Met Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Thr47Arg Conflicting Single submitter
Leber congenital amaurosis 4
AIPL1 p.Thr47Ile Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Tyr162His Uncertain significance Single submitter
AIPL1-related retinopathy
AIPL1 p.Val249Ala Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Val33Ala Conflicting Single submitter
Leber congenital amaurosis 4
AIPL1 p.Val33Gly Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Val33Leu Uncertain significance Single submitter
Leber congenital amaurosis 4
AIPL1 p.Arg322Cys Uncertain significance No assertion criteria
AIPL1 p.Met228Thr Uncertain significance No assertion criteria
inherited retinal dystrophy
AIPL1 p.Pro335His Benign No assertion criteria
Abnormality of neuronal migration

All AIPL1 variants

Pathogenic 47

c.276+1G>A Expert panel AIPL1-related retinopathy
c.277-2A>G Expert panel AIPL1-related retinopathy
p.Ala197Pro Expert panel AIPL1-related retinopathy
p.Arg270His Expert panel AIPL1-related retinopathy
p.Cys207fs Expert panel AIPL1-related retinopathy
p.Cys42Ter Expert panel AIPL1-related retinopathy
p.Cys89Arg Expert panel AIPL1-related retinopathy
p.Gln141Ter Expert panel AIPL1-related retinopathy
p.Gln163Ter Expert panel AIPL1-related retinopathy
p.Glu337fs Expert panel AIPL1-related retinopathy
p.Gly262Ser Expert panel AIPL1-related retinopathy ⚠
p.Trp278Ter Expert panel AIPL1-related retinopathy
p.Trp72Ter Expert panel AIPL1-related retinopathy
p.Lys200fs Multiple submitters Leber congenital amaurosis 4
c.466-24_466-21del Single submitter Leber congenital amaurosis 4
c.643-2A>T Single submitter Leber congenital amaurosis 4
p.Arg258Pro Single submitter Leber congenital amaurosis 4
p.Arg302fs Single submitter Leber congenital amaurosis 4
p.Arg32Ter Single submitter Leber congenital amaurosis 4
p.Asn171fs Single submitter Leber congenital amaurosis 4
p.Cys207Ter Single submitter Leber congenital amaurosis 4
p.Cys89Ter Single submitter Leber congenital amaurosis 4
p.Gln109Ter Single submitter Leber congenital amaurosis 4
p.Gln163fs Single submitter Leber congenital amaurosis 4
p.Glu152Ter Single submitter Leber congenital amaurosis 4
p.Glu276Ter Single submitter Leber congenital amaurosis 4
p.Glu318fs Single submitter Leber congenital amaurosis 4
p.Gly183Ter Single submitter Leber congenital amaurosis 4
p.Gly20fs Single submitter Leber congenital amaurosis 4
p.Gly30Ter Single submitter Leber congenital amaurosis 4
p.His260fs Single submitter Leber congenital amaurosis 4
p.His60fs Single submitter Leber congenital amaurosis 4
p.Leu191Pro Single submitter Leber congenital amaurosis 4
p.Met1Thr Single submitter Leber congenital amaurosis 4
p.Met1Val Single submitter Leber congenital amaurosis 4
p.Phe35delinsLeuTer Single submitter Leber congenital amaurosis 4
p.Trp218Ter Single submitter Leber congenital amaurosis
p.Tyr194Ter Single submitter Leber congenital amaurosis 4
p.Tyr97fs Single submitter Leber congenital amaurosis 4
p.Val290fs Single submitter Leber congenital amaurosis 4
p.Val48fs Single submitter Leber congenital amaurosis 4
c.785-10_786del No assertion criteria Leber congenital amaurosis 4
c.96+4A>T No assertion criteria Leber congenital amaurosis 4
p.His36fs No assertion criteria Leber congenital amaurosis 4
p.Ile34fs No assertion criteria retinitis pigmentosa
p.Phe35fs No assertion criteria Leber congenital amaurosis 4
p.Trp222Ter No assertion criteria Leber congenital amaurosis 4

Pathogenic/Likely pathogenic 4

c.465+1G>A Multiple submitters Leber congenital amaurosis 4
p.Arg80Trp Multiple submitters Leber congenital amaurosis 4 ⚠
p.Gln155His Multiple submitters Leber congenital amaurosis 4 ⚠
p.Ile99fs Multiple submitters retinitis pigmentosa

Likely pathogenic 27

p.Asp51Gly Expert panel AIPL1-related retinopathy
p.Cys239Arg Expert panel AIPL1-related retinopathy
p.Gly122Arg Expert panel AIPL1-related retinopathy
p.Gly64Arg Expert panel AIPL1-related retinopathy
p.Leu17Pro Expert panel AIPL1-related retinopathy
p.Lys243del Expert panel AIPL1-related retinopathy
p.Trp72Arg Expert panel AIPL1-related retinopathy
p.Val12fs Expert panel AIPL1-related retinopathy
p.Val71Phe Expert panel AIPL1-related retinopathy
p.Tyr201Asn Multiple submitters Leber congenital amaurosis 4
c.466-1G>C Single submitter Leber congenital amaurosis 4
c.785-1G>C Single submitter Abnormality of the eye
c.97-10C>A Single submitter
c.97-1G>A Single submitter Leber congenital amaurosis 4
p.Ala85Asp Single submitter Leber congenital amaurosis 4
p.Arg272fs Single submitter Leber congenital amaurosis 4
p.Arg311fs Single submitter retinitis pigmentosa
p.Gln329Ter Single submitter Leber congenital amaurosis
p.Lys14Glu Single submitter Leber congenital amaurosis 4
p.Ser101Pro Single submitter Leber congenital amaurosis
p.Thr332fs Single submitter Leber congenital amaurosis 4
p.Tyr246Ter Single submitter inherited retinal dystrophy
c.276+5G>C No assertion criteria inherited retinal dystrophy
c.784+2T>A No assertion criteria Leber congenital amaurosis 4
c.(?_-1 No assertion criteria Leber congenital amaurosis
p.Leu291fs No assertion criteria inherited retinal dystrophy
p.Trp222Arg No assertion criteria inherited retinal dystrophy

Conflicting classifications of pathogenicity 27

c.642+14G>A Single submitter Leber congenital amaurosis 4
c.785-11G>A Single submitter retinitis pigmentosa
c.97-15C>T Single submitter Leber congenital amaurosis 4
c.97-9G>A Single submitter Leber congenital amaurosis 4
c.-17C>A Single submitter Leber congenital amaurosis 4
p.Ala352_Pro355del Single submitter inherited retinal dystrophy
p.Ala364Thr Single submitter Inborn genetic diseases ⚠
p.Arg209= Single submitter Leber congenital amaurosis 4
p.Arg302Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Asp138= Single submitter retinitis pigmentosa
p.Asp255= Single submitter Leber congenital amaurosis 4
p.Cys89= Single submitter Leber congenital amaurosis 4
p.Gln106= Single submitter Leber congenital amaurosis 4
p.Glu215= Single submitter Leber congenital amaurosis 4
p.Gly11= Single submitter Leber congenital amaurosis 4
p.His172= Single submitter retinitis pigmentosa
p.His260= Single submitter Leber congenital amaurosis 4
p.His82Tyr Single submitter inherited retinal dystrophy ⚠
p.Ile151= Single submitter Leber congenital amaurosis 4
p.Ile206Val Single submitter Leber congenital amaurosis 4 ⚠
p.Ile74Thr Single submitter Inborn genetic diseases ⚠
p.Met126Lys Single submitter retinitis pigmentosa ⚠
p.Pro370Ser Single submitter retinitis pigmentosa ⚠
p.Ser78= Single submitter retinitis pigmentosa
p.Thr47Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Tyr246Ser Single submitter retinitis pigmentosa ⚠
p.Val33Ala Single submitter Leber congenital amaurosis 4 ⚠

Benign 37

c.642+48G>A Expert panel AIPL1-related retinopathy
p.Ala313Ser Expert panel AIPL1-related retinopathy
p.Ala336Thr Expert panel AIPL1-related retinopathy
p.Arg324Leu Expert panel AIPL1-related retinopathy
p.Asp90His Expert panel AIPL1-related retinopathy ⚠
p.Phe37= Expert panel AIPL1-related retinopathy
p.Pro376Ser Expert panel AIPL1-related retinopathy
p.Thr114Ile Expert panel AIPL1-related retinopathy ⚠
p.Tyr134Phe Expert panel AIPL1-related retinopathy ⚠
p.Val96Ile Expert panel AIPL1-related retinopathy
c.466-26T>C Multiple submitters
c.643-33C>T Multiple submitters
c.784+18G>A Multiple submitters Leber congenital amaurosis 4
c.784+298G>A Multiple submitters
c.784+89C>T Multiple submitters
c.96+186T>C Multiple submitters
c.276+298T>A Single submitter
c.276+300T>A Single submitter
c.276+302T>A Single submitter
c.276+304T>A Single submitter
c.276+306T>A Single submitter
c.465+230del Single submitter
c.465+301T>C Single submitter
c.96+14del Single submitter Leber congenital amaurosis 4
c.96+194T>C Single submitter
c.96+288C>G Single submitter
c.96+98dup Single submitter
c.97-276_97-274dup Single submitter
c.97-276_97-275dup Single submitter
c.97-276dup Single submitter
c.*151_*152del Single submitter
c.*151_*152dup Single submitter
c.*152del Single submitter
p.Ala285Glu Single submitter Leber congenital amaurosis 4
p.Ala285Lys Single submitter Leber congenital amaurosis 4
p.Leu76= Single submitter Leber congenital amaurosis 4
p.Pro335His No assertion criteria Abnormality of neuronal migration ⚠

Benign/Likely benign 11

c.277-10A>C Multiple submitters retinitis pigmentosa
c.277-14G>A Multiple submitters retinitis pigmentosa
c.*1009A>G Multiple submitters retinitis pigmentosa
c.*1018G>A Multiple submitters retinitis pigmentosa
c.*1202C>T Multiple submitters retinitis pigmentosa
c.*1229C>T Multiple submitters retinitis pigmentosa
c.*1391C>T Multiple submitters retinitis pigmentosa
c.*1658T>C Multiple submitters retinitis pigmentosa
c.*606G>A Multiple submitters retinitis pigmentosa
c.*753G>A Multiple submitters retinitis pigmentosa
p.Leu100= Multiple submitters retinitis pigmentosa

Likely benign 179

p.Ala285Thr Expert panel AIPL1-related retinopathy ⚠
p.His252= Expert panel AIPL1-related retinopathy
p.Leu17= Expert panel AIPL1-related retinopathy
c.465+45A>G Multiple submitters
c.*1289G>A Multiple submitters Leber congenital amaurosis 4
c.*1568G>A Multiple submitters Leber congenital amaurosis 4
c.*33A>C Multiple submitters Leber congenital amaurosis 4
p.Glu135Lys Multiple submitters Leber congenital amaurosis 4 ⚠
p.Leu257= Multiple submitters Leber congenital amaurosis 4
p.Val220= Multiple submitters Leber congenital amaurosis 4
c.276+10C>A Single submitter Leber congenital amaurosis 4
c.276+12C>G Single submitter Leber congenital amaurosis 4
c.276+12del Single submitter Leber congenital amaurosis 4
c.276+14G>T Single submitter Leber congenital amaurosis 4
c.276+15C>A Single submitter Leber congenital amaurosis 4
c.276+15C>T Single submitter Leber congenital amaurosis 4
c.276+16_276+17delinsTT Single submitter Leber congenital amaurosis 4
c.276+16G>A Single submitter Leber congenital amaurosis 4
c.276+17C>T Single submitter Leber congenital amaurosis 4
c.276+18G>A Single submitter Leber congenital amaurosis 4
c.276+7dup Single submitter Leber congenital amaurosis 4
c.277-14G>T Single submitter Leber congenital amaurosis 4
c.277-15C>T Single submitter Leber congenital amaurosis 4
c.277-16C>T Single submitter Leber congenital amaurosis 4
c.277-19C>T Single submitter Leber congenital amaurosis 4
c.277-6C>T Single submitter Leber congenital amaurosis 4
c.277-8C>T Single submitter Leber congenital amaurosis 4
c.465+11G>C Single submitter Leber congenital amaurosis 4
c.465+13T>A Single submitter Leber congenital amaurosis 4
c.465+16G>T Single submitter Leber congenital amaurosis 4
c.465+19G>A Single submitter Leber congenital amaurosis 4
c.465+19G>T Single submitter Leber congenital amaurosis 4
c.465+20G>C Single submitter Leber congenital amaurosis 4
c.465+20G>T Single submitter Leber congenital amaurosis 4
c.465+9G>C Single submitter Leber congenital amaurosis 4
c.466-10C>T Single submitter Leber congenital amaurosis 4
c.466-20_466-16del Single submitter Leber congenital amaurosis 4
c.642+10C>T Single submitter Leber congenital amaurosis 4
c.642+11G>T Single submitter Leber congenital amaurosis 4
c.642+19G>A Single submitter Leber congenital amaurosis 4
c.642+20G>C Single submitter Leber congenital amaurosis 4
c.642+8G>A Single submitter Leber congenital amaurosis 4
c.642+8G>T Single submitter Leber congenital amaurosis 4
c.643-10C>A Single submitter Leber congenital amaurosis 4
c.643-16C>G Single submitter Leber congenital amaurosis 4
c.643-16C>T Single submitter Leber congenital amaurosis 4
c.643-18G>A Single submitter Leber congenital amaurosis 4
c.643-4G>A Single submitter Leber congenital amaurosis 4
c.643-5G>A Single submitter Leber congenital amaurosis 4
c.643-7T>C Single submitter Leber congenital amaurosis 4
c.643-9C>T Single submitter Leber congenital amaurosis 4
c.784+10G>C Single submitter Leber congenital amaurosis 4
c.784+13G>A Single submitter Leber congenital amaurosis 4
c.784+17G>A Single submitter Leber congenital amaurosis 4
c.784+20C>A Single submitter Leber congenital amaurosis 4
c.784+20C>T Single submitter Leber congenital amaurosis 4
c.784+7G>A Single submitter Leber congenital amaurosis 4
c.784+7G>C Single submitter Leber congenital amaurosis 4
c.785-12T>C Single submitter Leber congenital amaurosis 4
c.785-14C>T Single submitter Leber congenital amaurosis 4
c.785-4A>G Single submitter Leber congenital amaurosis 4
c.785-97G>A Single submitter
c.96+10G>A Single submitter Leber congenital amaurosis 4
c.96+10G>T Single submitter Leber congenital amaurosis 4
c.96+13C>A Single submitter Leber congenital amaurosis 4
c.96+15T>A Single submitter Leber congenital amaurosis 4
c.96+17C>A Single submitter Leber congenital amaurosis 4
c.97-10C>T Single submitter Leber congenital amaurosis 4
c.97-14G>A Single submitter Leber congenital amaurosis 4
c.97-18C>T Single submitter Leber congenital amaurosis 4
p.Ala128= Single submitter Leber congenital amaurosis 4
p.Ala177= Single submitter Leber congenital amaurosis 4
p.Ala177Val Single submitter Inborn genetic diseases
p.Ala271= Single submitter Leber congenital amaurosis 4
p.Ala273= Single submitter Leber congenital amaurosis 4
p.Ala281= Single submitter Leber congenital amaurosis 4
p.Ala285= Single submitter Leber congenital amaurosis 4
p.Ala3= Single submitter Leber congenital amaurosis 4
p.Ala300= Single submitter Leber congenital amaurosis 4
p.Ala313= Single submitter Leber congenital amaurosis 4
p.Ala360= Single submitter Leber congenital amaurosis 4
p.Ala85= Single submitter Leber congenital amaurosis 4
p.Arg102= Single submitter Leber congenital amaurosis 4
p.Arg187= Single submitter Leber congenital amaurosis 4
p.Arg258= Single submitter Leber congenital amaurosis 4
p.Arg258Gln Single submitter Leber congenital amaurosis 4
p.Arg270= Single submitter Leber congenital amaurosis 4
p.Arg324= Single submitter Leber congenital amaurosis 4
p.Arg46= Single submitter Leber congenital amaurosis 4
p.Arg80= Single submitter Leber congenital amaurosis 4
p.Asn26= Single submitter Leber congenital amaurosis 4
p.Asp43= Single submitter Leber congenital amaurosis 4
p.Asp50= Single submitter Leber congenital amaurosis 4
p.Asp90= Single submitter Leber congenital amaurosis 4
p.Cys121= Single submitter Leber congenital amaurosis 4
p.Cys239= Single submitter Leber congenital amaurosis 4
p.Cys323= Single submitter Leber congenital amaurosis 4
p.Gln109= Single submitter Leber congenital amaurosis 4
p.Gln221= Single submitter Leber congenital amaurosis 4
p.Glu184= Single submitter Leber congenital amaurosis 4
p.Glu195= Single submitter Leber congenital amaurosis 4
p.Glu219= Single submitter Leber congenital amaurosis 4
p.Glu294= Single submitter Leber congenital amaurosis 4
p.Glu318= Single submitter Leber congenital amaurosis 4
p.Glu349= Single submitter Leber congenital amaurosis 4
p.Glu73= Single submitter Leber congenital amaurosis 4
p.Gly110= Single submitter Leber congenital amaurosis 4
p.Gly365= Single submitter Leber congenital amaurosis 4
p.Gly95= Single submitter Leber congenital amaurosis 4
p.His117= Single submitter Leber congenital amaurosis 4
p.His119= Single submitter Leber congenital amaurosis 4
p.His18= Single submitter Leber congenital amaurosis 4
p.His182= Single submitter Leber congenital amaurosis 4
p.His259= Single submitter Leber congenital amaurosis 4
p.His274= Single submitter Leber congenital amaurosis 4
p.Ile16= Single submitter Leber congenital amaurosis 4
p.Ile233= Single submitter Leber congenital amaurosis 4
p.Ile49= Single submitter Leber congenital amaurosis 4
p.Ile63= Single submitter Leber congenital amaurosis 4
p.Leu140= Single submitter Leber congenital amaurosis 4
p.Leu153= Single submitter Leber congenital amaurosis 4
p.Leu154= Single submitter Leber congenital amaurosis 4
p.Leu169= Single submitter Leber congenital amaurosis 4
p.Leu181= Single submitter Leber congenital amaurosis 4
p.Leu191= Single submitter
p.Leu211= Single submitter Leber congenital amaurosis 4
p.Leu223= Single submitter Leber congenital amaurosis 4
p.Leu225= Single submitter Leber congenital amaurosis 4
p.Leu24= Single submitter Leber congenital amaurosis 4
p.Leu240= Single submitter Leber congenital amaurosis 4
p.Leu241= Single submitter Leber congenital amaurosis 4
p.Leu305= Single submitter Leber congenital amaurosis 4
p.Leu321= Single submitter Leber congenital amaurosis 4
p.Leu327= Single submitter Leber congenital amaurosis 4
p.Leu362= Single submitter Leber congenital amaurosis 4
p.Leu382= Single submitter Leber congenital amaurosis 4
p.Leu69= Single submitter Leber congenital amaurosis 4
p.Leu7= Single submitter Leber congenital amaurosis 4
p.Lys111= Single submitter Leber congenital amaurosis 4
p.Lys142= Single submitter Leber congenital amaurosis 4
p.Lys200= Single submitter Leber congenital amaurosis 4
p.Lys243= Single submitter Leber congenital amaurosis 4
p.Lys289= Single submitter Leber congenital amaurosis 4
p.Phe127= Single submitter Leber congenital amaurosis 4
p.Phe189= Single submitter Leber congenital amaurosis 4
p.Pro159= Single submitter Leber congenital amaurosis 4
p.Pro179= Single submitter Leber congenital amaurosis 4
p.Pro217= Single submitter Leber congenital amaurosis 4
p.Pro295= Single submitter Leber congenital amaurosis 4
p.Pro334= Single submitter Leber congenital amaurosis 4
p.Pro335= Single submitter Leber congenital amaurosis 4
p.Pro343= Single submitter Leber congenital amaurosis 4
p.Pro358= Single submitter Leber congenital amaurosis 4
p.Pro376= Single submitter Leber congenital amaurosis 4
p.Pro376Leu Single submitter Inborn genetic diseases
p.Pro58= Single submitter Leber congenital amaurosis 4
p.Pro98= Single submitter Leber congenital amaurosis 4
p.Ser170= Single submitter Leber congenital amaurosis 4
p.Ser346= Single submitter Leber congenital amaurosis 4
p.Ser363= Single submitter Leber congenital amaurosis 4
p.Ser381= Single submitter Leber congenital amaurosis 4
p.Thr120= Single submitter Leber congenital amaurosis 4
p.Thr131= Single submitter Leber congenital amaurosis 4
p.Thr166= Single submitter Leber congenital amaurosis 4
p.Thr332= Single submitter Leber congenital amaurosis 4
p.Thr348= Single submitter Leber congenital amaurosis 4
p.Thr372= Single submitter Leber congenital amaurosis 4
p.Thr39= Single submitter Leber congenital amaurosis 4
p.Thr47= Single submitter Leber congenital amaurosis 4
p.Thr91= Single submitter Leber congenital amaurosis 4
p.Thr94= Single submitter Leber congenital amaurosis 4
p.Tyr134= Single submitter Leber congenital amaurosis 4
p.Tyr194= Single submitter Leber congenital amaurosis 4
p.Tyr247= Single submitter Leber congenital amaurosis 4
p.Tyr268= Single submitter Leber congenital amaurosis 4
p.Val180= Single submitter Leber congenital amaurosis 4
p.Val269= Single submitter Leber congenital amaurosis 4
p.Val48= Single submitter Leber congenital amaurosis 4
p.Val96= Single submitter Leber congenital amaurosis 4

Uncertain significance 240

c.96+7G>T Expert panel AIPL1-related retinopathy
p.Ala128Val Expert panel AIPL1-related retinopathy ⚠
p.Ala266Ser Expert panel AIPL1-related retinopathy ⚠
p.Ala352_Pro355dup Expert panel AIPL1-related retinopathy
p.Arg187Trp Expert panel AIPL1-related retinopathy ⚠
p.Arg272Pro Expert panel AIPL1-related retinopathy ⚠
p.Arg311Cys Expert panel AIPL1-related retinopathy ⚠
p.Arg38Cys Expert panel AIPL1-related retinopathy ⚠
p.Arg53Trp Expert panel AIPL1-related retinopathy ⚠
p.Pro25Thr Expert panel AIPL1-related retinopathy ⚠
p.Pro376fs Expert panel AIPL1-related retinopathy
p.Pro58Thr Expert panel AIPL1-related retinopathy ⚠
p.Thr94Met Expert panel AIPL1-related retinopathy ⚠
p.Val118Met Expert panel AIPL1-related retinopathy ⚠
p.Val290Leu Expert panel AIPL1-related retinopathy ⚠
c.784+4C>T Multiple submitters Leber congenital amaurosis 4
c.*53C>T Multiple submitters Leber congenital amaurosis 4
p.Ala336fs Multiple submitters Leber congenital amaurosis 4
p.Ala352Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala364Ser Multiple submitters AIPL1-related retinopathy ⚠
p.Ala371Gly Multiple submitters Leber congenital amaurosis 4 ⚠
p.Arg102Gln Multiple submitters retinitis pigmentosa ⚠
p.Arg102Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg320Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg38His Multiple submitters Leber congenital amaurosis 4 ⚠
p.Arg46Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg53Gln Multiple submitters AIPL1-related retinopathy ⚠
p.Asn125Asp Multiple submitters Inborn genetic diseases ⚠
p.Gln238His Multiple submitters Leber congenital amaurosis 4 ⚠
p.Glu276Asp Multiple submitters Leber congenital amaurosis 4 ⚠
p.Glu317Gly Multiple submitters Leber congenital amaurosis 4 ⚠
p.Glu353Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu361Gln Multiple submitters Leber congenital amaurosis 4 ⚠
p.Glu86Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly379Arg Multiple submitters Leber congenital amaurosis 4 ⚠
p.His119Arg Multiple submitters Inborn genetic diseases ⚠
p.His172Arg Multiple submitters Leber congenital amaurosis 4 ⚠
p.His82Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile49Thr Multiple submitters Leber congenital amaurosis 4 ⚠
p.Leu188Phe Multiple submitters retinitis pigmentosa ⚠
p.Met175Ile Multiple submitters Inborn genetic diseases ⚠
p.Met59Thr Multiple submitters Leber congenital amaurosis 4 ⚠
p.Met66Thr Multiple submitters Leber congenital amaurosis 4 ⚠
p.Pro342Ser Multiple submitters Leber congenital amaurosis 4 ⚠
p.Pro343Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro351Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro375Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser31Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser377Thr Multiple submitters Inborn genetic diseases ⚠
p.Thr120Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr120Met Multiple submitters retinitis pigmentosa ⚠
p.Thr21Met Multiple submitters Inborn genetic diseases ⚠
p.Thr332Met Multiple submitters Inborn genetic diseases ⚠
p.Val180Ile Multiple submitters Leber congenital amaurosis 4 ⚠
p.Val220Met Multiple submitters Leber congenital amaurosis 4 ⚠
c.276+6T>C Single submitter Leber congenital amaurosis 4
c.465+4G>A Single submitter Leber congenital amaurosis 4
c.466-7G>A Single submitter Leber congenital amaurosis 4
c.642+20G>A Single submitter Leber congenital amaurosis 4
c.642+3C>T Single submitter Leber congenital amaurosis 4
c.784+21G>A Single submitter inherited retinal dystrophy
c.784+5G>A Single submitter Leber congenital amaurosis
c.784+6C>T Single submitter Leber congenital amaurosis 4
c.785-1_787del Single submitter Leber congenital amaurosis 4
c.96+18G>A Single submitter Leber congenital amaurosis 4
c.97-10C>G Single submitter Leber congenital amaurosis 4
c.*1007C>T Single submitter Leber congenital amaurosis 4
c.*1017C>T Single submitter retinitis pigmentosa
c.*112A>T Single submitter Leber congenital amaurosis 4
c.*1148G>A Single submitter Leber congenital amaurosis 4
c.*1165C>T Single submitter retinitis pigmentosa
c.*1178C>T Single submitter Leber congenital amaurosis 4
c.*1237C>T Single submitter Leber congenital amaurosis 4
c.*1239C>T Single submitter Leber congenital amaurosis 4
c.*1288C>T Single submitter retinitis pigmentosa
c.*1335A>C Single submitter retinitis pigmentosa
c.*134G>T Single submitter Leber congenital amaurosis 4
c.*1433A>T Single submitter Leber congenital amaurosis 4
c.*1444G>A Single submitter retinitis pigmentosa
c.*1455G>T Single submitter retinitis pigmentosa
c.*1459G>T Single submitter retinitis pigmentosa
c.*146A>C Single submitter Leber congenital amaurosis 4
c.*147A>C Single submitter retinitis pigmentosa
c.*148A>C Single submitter Leber congenital amaurosis 4
c.*150_*151insCAA Single submitter
c.*1501G>A Single submitter Leber congenital amaurosis 4
c.*150A>C Single submitter retinitis pigmentosa
c.*1527T>G Single submitter Leber congenital amaurosis 4
c.*153_*154del Single submitter
c.*1534G>A Single submitter retinitis pigmentosa
c.*1537C>A Single submitter retinitis pigmentosa
c.*1550A>C Single submitter Leber congenital amaurosis 4
c.*164G>A Single submitter Leber congenital amaurosis 4
c.*1679G>C Single submitter retinitis pigmentosa
c.*1693C>T Single submitter Leber congenital amaurosis 4
c.*188G>A Single submitter Leber congenital amaurosis 4
c.*221G>A Single submitter Leber congenital amaurosis 4
c.*23C>G Single submitter retinitis pigmentosa
c.*280G>A Single submitter retinitis pigmentosa
c.*390G>T Single submitter Leber congenital amaurosis 4
c.*434C>T Single submitter Leber congenital amaurosis 4
c.*486G>T Single submitter Leber congenital amaurosis 4
c.*564G>A Single submitter Leber congenital amaurosis 4
c.*576G>A Single submitter Leber congenital amaurosis 4
c.*748C>T Single submitter Leber congenital amaurosis 4
c.*749G>A Single submitter retinitis pigmentosa
c.*824G>C Single submitter Leber congenital amaurosis 4
c.*873T>G Single submitter Leber congenital amaurosis 4
p.Ala108Val Single submitter Leber congenital amaurosis 4 ⚠
p.Ala128Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Ala266Val Single submitter Leber congenital amaurosis 4 ⚠
p.Ala273Ser Single submitter Leber congenital amaurosis 4 ⚠
p.Ala313Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Ala313Val Single submitter Leber congenital amaurosis 4 ⚠
p.Ala336_Pro339del Single submitter Leber congenital amaurosis 4
p.Ala344Pro Single submitter Leber congenital amaurosis 4 ⚠
p.Ala344Ser Single submitter Leber congenital amaurosis 4 ⚠
p.Ala368Thr Single submitter Inborn genetic diseases ⚠
p.Ala371_Pro374dup Single submitter Leber congenital amaurosis 4
p.Arg102Gly Single submitter Leber congenital amaurosis 4 ⚠
p.Arg105Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Arg193Cys Single submitter Leber congenital amaurosis 4 ⚠
p.Arg193His Single submitter Leber congenital amaurosis 4 ⚠
p.Arg193Pro Single submitter Inborn genetic diseases ⚠
p.Arg193Ser Single submitter Leber congenital amaurosis 4 ⚠
p.Arg258Gly Single submitter Leber congenital amaurosis 4 ⚠
p.Arg258Trp Single submitter Leber congenital amaurosis 4 ⚠
p.Arg270Ser Single submitter ⚠
p.Arg306Gly Single submitter Inborn genetic diseases ⚠
p.Arg306Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Arg306Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Arg311Gly Single submitter Inborn genetic diseases ⚠
p.Arg311His Single submitter Leber congenital amaurosis 4 ⚠
p.Arg322Pro Single submitter Leber congenital amaurosis 4 ⚠
p.Arg32Gln Single submitter Leber congenital amaurosis 4 ⚠
p.Arg32Pro Single submitter Leber congenital amaurosis 4 ⚠
p.Arg46Gln Single submitter Leber congenital amaurosis 4 ⚠
p.Arg46Trp Single submitter Leber congenital amaurosis 4 ⚠
p.Arg80Gln Single submitter Leber congenital amaurosis 4 ⚠
p.Asn8Ser Single submitter Leber congenital amaurosis 4 ⚠
p.Asp136Asn Single submitter Leber congenital amaurosis 4 ⚠
p.Asp138His Single submitter Leber congenital amaurosis 4 ⚠
p.Asp255Tyr Single submitter Leber congenital amaurosis 4 ⚠
p.Asp286Val Single submitter Leber congenital amaurosis 4 ⚠
p.Asp90Asn Single submitter Leber congenital amaurosis 4 ⚠
p.Gln212His Single submitter Leber congenital amaurosis 4 ⚠
p.Gln288His Single submitter ⚠
p.Gln383Ter Single submitter Leber congenital amaurosis 4
p.Glu152Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Glu165Gln Single submitter Inborn genetic diseases ⚠
p.Glu173Asp Single submitter Leber congenital amaurosis 4 ⚠
p.Glu196Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Glu226del Single submitter Leber congenital amaurosis 4
p.Glu23Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Glu244Gln Single submitter Leber congenital amaurosis 4 ⚠
p.Glu251Gly Single submitter Inborn genetic diseases ⚠
p.Glu294Gln Single submitter ⚠
p.Glu317Lys Single submitter Inborn genetic diseases ⚠
p.Glu349Gly Single submitter Inborn genetic diseases ⚠
p.Glu361Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Glu373Lys Single submitter Inborn genetic diseases ⚠
p.Glu44Val Single submitter Leber congenital amaurosis 4 ⚠
p.Glu70Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Glu83Gln Single submitter ⚠
p.Glu86Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Gly122Glu Single submitter ⚠
p.Gly183Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Gly192Val Single submitter Leber congenital amaurosis 4 ⚠
p.Gly19Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Gly20Asp Single submitter Leber congenital amaurosis 4 ⚠
p.Gly20Val Single submitter Inborn genetic diseases ⚠
p.Gly22= Single submitter Leber congenital amaurosis 4
p.Gly262Val Single submitter Leber congenital amaurosis 4 ⚠
p.Gly379Ala Single submitter Leber congenital amaurosis 4 ⚠
p.His117Gln Single submitter Leber congenital amaurosis 4 ⚠
p.His130Arg Single submitter Leber congenital amaurosis 4 ⚠
p.His182Gln Single submitter Leber congenital amaurosis 4 ⚠
p.His60Thr Single submitter Leber congenital amaurosis 4
p.Ile16Val Single submitter Leber congenital amaurosis 4 ⚠
p.Ile205Met Single submitter Leber congenital amaurosis 4 ⚠
p.Ile256Ser Single submitter ⚠
p.Ile92= Single submitter
p.Ile92Val Single submitter Leber congenital amaurosis 4 ⚠
p.Ile99Met Single submitter Leber congenital amaurosis 4 ⚠
p.Leu100Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Leu100Val Single submitter Leber congenital amaurosis 4 ⚠
p.Leu208Pro Single submitter Leber congenital amaurosis 4 ⚠
p.Leu211Val Single submitter Leber congenital amaurosis 4 ⚠
p.Leu257Pro Single submitter Inborn genetic diseases ⚠
p.Leu307Pro Single submitter Leber congenital amaurosis 4 ⚠
p.Leu321fs Single submitter inherited retinal dystrophy
p.Leu382Gln Single submitter Leber congenital amaurosis 4 ⚠
p.Leu69Phe Single submitter Inborn genetic diseases ⚠
p.Leu76Pro Single submitter Leber congenital amaurosis 4 ⚠
p.Leu7Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Lys190Asn Single submitter Leber congenital amaurosis 4 ⚠
p.Lys214= Single submitter Leber congenital amaurosis 4
p.Lys242Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Lys68Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Lys68Gln Single submitter Inborn genetic diseases ⚠
p.Met312Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Met40Lys Single submitter Leber congenital amaurosis 4 ⚠
p.Met40Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Met79Ile Single submitter Leber congenital amaurosis 4 ⚠
p.Phe127Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Pro159Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Pro159Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Pro295Arg Single submitter Leber congenital amaurosis 4 ⚠
p.Pro295Gln Single submitter Inborn genetic diseases ⚠
p.Pro295Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Pro335Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Pro354Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Pro366Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Pro367= Single submitter
p.Pro367Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Pro367Ser Single submitter Leber congenital amaurosis 4 ⚠
p.Pro375Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Pro376Ala Single submitter ⚠
p.Pro378Ser Single submitter Leber congenital amaurosis 4 ⚠
p.Ser198Phe Single submitter Leber congenital amaurosis 4 ⚠
p.Ser254Asn Single submitter Leber congenital amaurosis 4 ⚠
p.Ser328Thr Single submitter Leber congenital amaurosis 4 ⚠
p.Ser346Pro Single submitter Leber congenital amaurosis 4 ⚠
p.Thr131Met Single submitter Leber congenital amaurosis 4 ⚠
p.Thr213= Single submitter retinitis pigmentosa
p.Thr356Ala Single submitter Inborn genetic diseases ⚠
p.Thr47Ile Single submitter Leber congenital amaurosis 4 ⚠
p.Tyr162His Single submitter AIPL1-related retinopathy ⚠
p.Tyr247Cys Single submitter Inborn genetic diseases ⚠
p.Val249Ala Single submitter Leber congenital amaurosis 4 ⚠
p.Val269Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Val290Gly Single submitter Inborn genetic diseases ⚠
p.Val33Gly Single submitter Leber congenital amaurosis 4 ⚠
p.Val33Leu Single submitter Leber congenital amaurosis 4 ⚠
p.Val71Gly Single submitter Leber congenital amaurosis 4 ⚠
p.Val81Met Single submitter Leber congenital amaurosis 4 ⚠
p.Val96Phe Single submitter Leber congenital amaurosis 4 ⚠
p.Arg322Cys No assertion criteria ⚠
p.Glu245del No assertion criteria Leber congenital amaurosis
p.Met228Thr No assertion criteria inherited retinal dystrophy ⚠