SPATA7 — 510 ClinVar variants

All ClinVar germline SPATA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 251 flagged for review →

36 Pathogenic · 11 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 32 Conflicting · 10 Benign · 12 Benign/Likely benign · 118 Likely benign · 266 Uncertain significance

Full SPATA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 251

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 agree, ClinVar conflicts 15

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

SPATA7 p.Ala313Thr Conflicting Single submitter
retinitis pigmentosa
SPATA7 p.Arg108Gln Conflicting Single submitter
Inborn genetic diseases
SPATA7 p.Arg272Gln Conflicting Single submitter
retinitis pigmentosa
SPATA7 p.Arg343Lys Conflicting Single submitter
inherited retinal dystrophy
SPATA7 p.Arg387Lys Conflicting Single submitter
Leber congenital amaurosis 3
SPATA7 p.Cys308Tyr Conflicting Single submitter
Leber congenital amaurosis 3
SPATA7 p.His413Arg Conflicting Single submitter
Leber congenital amaurosis 3
SPATA7 p.Leu122Ile Conflicting Single submitter
Inborn genetic diseases
SPATA7 p.Lys497Arg Conflicting Single submitter
Leber congenital amaurosis 3
SPATA7 p.Met107Val Conflicting Single submitter
Inborn genetic diseases
SPATA7 p.Met345Val Conflicting Single submitter
inherited retinal dystrophy
SPATA7 p.Phe492Leu Conflicting Single submitter
retinitis pigmentosa
SPATA7 p.Pro129Leu Conflicting Single submitter
Leber congenital amaurosis 3
SPATA7 p.Thr244Ala Conflicting Single submitter
inherited retinal dystrophy
SPATA7 p.Thr310Ile Conflicting Single submitter
Leber congenital amaurosis 3

Predictors lean, ClinVar uncertain 201

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 201

SPATA7 p.Ala106Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ala147Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ala305Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Arg191Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Arg191Trp Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Arg212Gln Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Arg212Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Arg257His Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Arg356His Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Arg395Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Arg85Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
SPATA7 p.Asn386Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Asp133Ala Uncertain significance Multiple submitters
SPATA7 p.Asp297Val Uncertain significance Multiple submitters
inherited retinal dystrophy
SPATA7 p.Asp312Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Asp312Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Cys20Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Gln468Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Gln565Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Gln568His Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Gln83Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Gln95Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Glu128Lys Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Glu483Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Gly382Cys Uncertain significance Multiple submitters
retinitis pigmentosa
SPATA7 p.Gly420Asp Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.His410Asp Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.His55Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.His578Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ile302Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ile332Thr Uncertain significance Multiple submitters
inherited retinal dystrophy
SPATA7 p.Ile495Met Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ile495Val Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ile505Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ile541Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ile541Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Leu21Val Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Leu474Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Leu475Phe Uncertain significance Multiple submitters
retinitis pigmentosa
SPATA7 p.Leu556Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Lys104Arg Uncertain significance Multiple submitters
inherited retinal dystrophy
SPATA7 p.Lys137Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Lys265Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Lys293Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Lys303Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Lys314Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Lys333Asn Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Lys469Met Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Lys49Arg Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Lys573Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Met345Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Phe207Tyr Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Phe485Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Pro19Ala Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Pro353Ala Uncertain significance Multiple submitters
inherited retinal dystrophy
SPATA7 p.Ser115Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ser423Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ser427Leu Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ser476Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ser564Cys Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ser571Gly Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Thr35Ala Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Thr489Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Thr519Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Thr536Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Tyr185His Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Tyr311Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Tyr367Cys Uncertain significance Multiple submitters
retinitis pigmentosa 94, variable age at onset
SPATA7 p.Val12Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Val216Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Val417Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Val66Ile Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ala109Thr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ala109Val Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Ala186Thr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ala187Gly Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Ala187Pro Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ala249Thr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ala336Ser Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ala444Gly Uncertain significance Single submitter
SPATA7 p.Ala444Thr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ala53Thr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ala65Val Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Arg202Lys Uncertain significance Single submitter
retinitis pigmentosa
SPATA7 p.Arg204Gly Uncertain significance Single submitter
inherited retinal dystrophy
SPATA7 p.Arg257Pro Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Arg356Cys Uncertain significance Single submitter
SPATA7 p.Arg464His Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Arg8Ile Uncertain significance Single submitter
SPATA7 p.Asn301Ser Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Asn426Ser Uncertain significance Single submitter
SPATA7 p.Asn454Asp Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asn560Thr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asn577Ser Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp134Asn Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp134Gly Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp224Gly Uncertain significance Single submitter
SPATA7 p.Asp224Tyr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp270Ala Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Asp270Tyr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp2His Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp335Asn Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp440Gly Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Asp521Gly Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp533Gly Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp544His Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp575Tyr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Cys96Phe Uncertain significance Single submitter
SPATA7 p.Gln123Leu Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Gln278Arg Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Gln399His Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Gln430Glu Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Gln46Arg Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Gln508His Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Gln565Arg Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Gln568Arg Uncertain significance Single submitter
SPATA7 p.Glu363Lys Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Glu463Lys Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Glu490Lys Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Glu92Gln Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Glu99Val Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Gly189Arg Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Gly288Trp Uncertain significance Single submitter
SPATA7 p.Gly543Ser Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.His158Asn Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.His402Tyr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.His524Arg Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ile217Val Uncertain significance Single submitter
SPATA7 p.Ile273Thr Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Ile541Val Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ile592Thr Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ile592Val Uncertain significance Single submitter
inherited retinal dystrophy
SPATA7 p.Leu150Pro Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Leu157Pro Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Leu215Ser Uncertain significance Single submitter
SPATA7 p.Leu287Val Uncertain significance Single submitter
SPATA7 p.Leu350Pro Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Leu381Phe Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Leu392Pro Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Leu40Phe Uncertain significance Single submitter
SPATA7 p.Leu452Phe Uncertain significance Single submitter
SPATA7 p.Leu597Ser Uncertain significance Single submitter
SPATA7 p.Leu89Phe Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys104Glu Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys124Arg Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys137Glu Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys263Arg Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys314Glu Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys357Glu Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys407Ile Uncertain significance Single submitter
retinitis pigmentosa

Predictors split 35

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

SPATA7 p.Arg409Cys Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Arg409His Uncertain significance Multiple submitters
inherited retinal dystrophy
SPATA7 p.Asp418His Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Asp82Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Glu394Lys Uncertain significance Multiple submitters
inherited retinal dystrophy
SPATA7 p.His25Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ile371Thr Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Lys263Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Lys265Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Pro261Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Ser69Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPATA7 p.Tyr258Cys Uncertain significance Multiple submitters
Leber congenital amaurosis 3
SPATA7 p.Ala470Pro Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Arg272Trp Conflicting Single submitter
Inborn genetic diseases
SPATA7 p.Arg41Gly Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Arg41Ser Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Arg5Trp Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Arg85Gly Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Arg86Gly Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asn31Asp Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asn31Lys Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp376Gly Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Asp418Asn Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Leu42Arg Uncertain significance Single submitter
Inborn genetic diseases
SPATA7 p.Lys263Asn Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Lys49Asn Uncertain significance Single submitter
SPATA7 p.Phe143Leu Uncertain significance Single submitter
retinitis pigmentosa
SPATA7 p.Phe252Leu Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Pro14Arg Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Ser251Ala Uncertain significance Single submitter
inherited retinal dystrophy
SPATA7 p.Ser30Asn Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Thr260Ile Uncertain significance Single submitter
SPATA7 p.Thr279Ile Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Val7Leu Uncertain significance Single submitter
Leber congenital amaurosis 3
SPATA7 p.Glu405Asp Pathogenic No assertion criteria
Leber congenital amaurosis

All SPATA7 variants

Pathogenic 36

p.Glu99fs Multiple submitters Leber congenital amaurosis 3
p.Lys163Ter Multiple submitters inherited retinal dystrophy
p.Phe233_Ser234insTer Multiple submitters Leber congenital amaurosis
p.Pro321fs Multiple submitters Paediatric disorders
p.Ser39fs Multiple submitters Leber congenital amaurosis 3
p.Thr375_Asp376insTer Multiple submitters Leber congenital amaurosis 3
p.Val458fs Multiple submitters Leber congenital amaurosis 3
c.1161-1G>C Single submitter Leber congenital amaurosis 3
c.1161-2A>G Single submitter Leber congenital amaurosis 3
c.845+1G>A Single submitter inherited retinal dystrophy
c.901_912+1del Single submitter Leber congenital amaurosis 3
c.(912+1_913-1 Single submitter inherited retinal dystrophy
p.Gln130Ter Single submitter Leber congenital amaurosis 3
p.Gln399Ter Single submitter Leber congenital amaurosis 3
p.Glu315Ter Single submitter Leber congenital amaurosis 3
p.Glu364Ter Single submitter Leber congenital amaurosis 3
p.Glu404Ter Single submitter Leber congenital amaurosis 3
p.Gly324fs Single submitter Leber congenital amaurosis 3
p.Leu161fs Single submitter Leber congenital amaurosis 3
p.Leu366fs Single submitter Leber congenital amaurosis 3
p.Met140fs Single submitter Leber congenital amaurosis 3
p.Met408fs Single submitter Leber congenital amaurosis 3
p.Met473fs Single submitter Leber congenital amaurosis 3
p.Ser195fs Single submitter Leber congenital amaurosis 3
p.Ser234fs Single submitter Leber congenital amaurosis 3
p.Ser354fs Single submitter Leber congenital amaurosis 3
p.Thr247fs Single submitter SPATA7-related disorder
p.Thr289fs Single submitter Leber congenital amaurosis 3
p.Tyr359_Ser360insTer Single submitter Leber congenital amaurosis 3
p.Tyr56_Asn57delinsTer Single submitter Leber congenital amaurosis 3
c.19+1G>C No assertion criteria Leber congenital amaurosis 3
c.(?_-175 No assertion criteria Leber congenital amaurosis 3
p.Gln255Ter No assertion criteria Leber congenital amaurosis 3
p.Glu405Asp No assertion criteria Leber congenital amaurosis ⚠
p.Ile302fs No assertion criteria Leber congenital amaurosis 3
p.Tyr199fs No assertion criteria inherited retinal dystrophy

Pathogenic/Likely pathogenic 11

c.19+2T>A Multiple submitters SPATA7-related disorder
p.Arg108Ter Multiple submitters SPATA7-related disorder
p.Arg391Ter Multiple submitters retinitis pigmentosa
p.Arg395Ter Multiple submitters SPATA7-related disorder
p.Arg85Ter Multiple submitters SPATA7-related disorder
p.Asn400fs Multiple submitters SPATA7-related disorder
p.Asp270fs Multiple submitters Leber congenital amaurosis 3
p.Cys96Ter Multiple submitters SPATA7-related disorder
p.Leu368fs Multiple submitters SPATA7-related disorder
p.Leu89fs Multiple submitters SPATA7-related disorder
p.Ser75fs Multiple submitters SPATA7-related disorder

Likely pathogenic 25

c.94+2T>C Multiple submitters Leber congenital amaurosis 3
c.1081_1082+2del Single submitter SPATA7-related disorder
c.1082+2del Single submitter Leber congenital amaurosis 3
c.1083-1G>A Single submitter Leber congenital amaurosis 3
c.1160_1160+4delinsCT Single submitter Leber congenital amaurosis 3
c.1160+1G>T Single submitter SPATA7-related disorder
c.1216-2A>G Single submitter Leber congenital amaurosis 3
c.20-1G>A Single submitter Leber congenital amaurosis 3
c.238+1G>T Single submitter SPATA7-related disorder
c.372+1G>A Single submitter Leber congenital amaurosis 3
c.94+1G>C Single submitter Leber congenital amaurosis 3
p.Asn454fs Single submitter Leber congenital amaurosis 3
p.Asp432Ter Single submitter Leber congenital amaurosis
p.Gln304Ter Single submitter SPATA7-related disorder
p.Gln465fs Single submitter SPATA7-related disorder
p.Gln46Ter Single submitter Leber congenital amaurosis
p.Gln95Ter Single submitter Leber congenital amaurosis
p.Gly24fs Single submitter SPATA7-related disorder
p.Ile317fs Single submitter Leber congenital amaurosis 3
p.Leu193fs Single submitter Leber congenital amaurosis 3
p.Leu389_Gln399delinsTer Single submitter SPATA7-related disorder
p.Lys443fs Single submitter SPATA7-related disorder
p.Lys443Ter Single submitter SPATA7-related disorder
p.Lys98fs Single submitter Leber congenital amaurosis
p.Phe388_Leu389insTer Single submitter SPATA7-related disorder

Conflicting classifications of pathogenicity 32

c.1216-4C>T Single submitter retinitis pigmentosa
c.20_23delTCAG Single submitter Autosomal recessive SPATA7-related disorders
c.20-12del Single submitter Leber congenital amaurosis 3
c.372+11A>G Single submitter retinitis pigmentosa
c.373-15A>G Single submitter Leber congenital amaurosis 3
c.373-6T>G Single submitter Leber congenital amaurosis 3
c.913-14T>A Single submitter retinitis pigmentosa
p.Ala313Thr Single submitter retinitis pigmentosa ⚠
p.Arg108Gln Single submitter Inborn genetic diseases ⚠
p.Arg243= Single submitter Leber congenital amaurosis 3
p.Arg272Gln Single submitter retinitis pigmentosa ⚠
p.Arg272Trp Single submitter Inborn genetic diseases ⚠
p.Arg343Lys Single submitter inherited retinal dystrophy ⚠
p.Arg387Lys Single submitter Leber congenital amaurosis 3 ⚠
p.Asn482= Single submitter Leber congenital amaurosis 3
p.Cys308Tyr Single submitter Leber congenital amaurosis 3 ⚠
p.His413Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Leu122Ile Single submitter Inborn genetic diseases ⚠
p.Leu253= Single submitter Leber congenital amaurosis 3
p.Lys497Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Met107Val Single submitter Inborn genetic diseases ⚠
p.Met345Val Single submitter inherited retinal dystrophy ⚠
p.Phe492Leu Single submitter retinitis pigmentosa ⚠
p.Pro129= Single submitter Leber congenital amaurosis 3
p.Pro129Leu Single submitter Leber congenital amaurosis 3 ⚠
p.Pro19= Single submitter retinitis pigmentosa
p.Ser423= Single submitter Leber congenital amaurosis 3
p.Ser427= Single submitter Leber congenital amaurosis 3
p.Ser476= Single submitter retinitis pigmentosa
p.Ser69= Single submitter retinitis pigmentosa
p.Thr244Ala Single submitter inherited retinal dystrophy ⚠
p.Thr310Ile Single submitter Leber congenital amaurosis 3 ⚠

Benign 10

c.191-14C>A Multiple submitters retinitis pigmentosa
c.20-19T>G Multiple submitters Leber congenital amaurosis 3
c.913-23T>G Multiple submitters Leber congenital amaurosis 3
c.94+20C>T Multiple submitters Leber congenital amaurosis 3
p.Ser182= Multiple submitters retinitis pigmentosa
c.1160+12del Single submitter Leber congenital amaurosis 3
c.19+102del Single submitter
c.239-10dup Single submitter Leber congenital amaurosis 3
c.239-1496A>G Single submitter
p.Pro525Ser Single submitter Leber congenital amaurosis 3

Benign/Likely benign 12

c.1215+7C>A Multiple submitters Leber congenital amaurosis 3
c.190+16T>C Multiple submitters Leber congenital amaurosis 3
p.Arg534Gln Multiple submitters Leber congenital amaurosis 3
p.Gln95Arg Multiple submitters retinitis pigmentosa
p.Gly127= Multiple submitters Leber congenital amaurosis 3
p.Gly324Glu Multiple submitters Leber congenital amaurosis 3
p.Leu122Phe Multiple submitters Leber congenital amaurosis 3
p.Phe119Leu Multiple submitters Leber congenital amaurosis 3
p.Ser115= Multiple submitters Leber congenital amaurosis 3
p.Ser165Asn Multiple submitters Leber congenital amaurosis 3
p.Ser340= Multiple submitters Leber congenital amaurosis 3
p.Val74Met Multiple submitters inherited retinal dystrophy

Likely benign 118

c.1083-17T>C Multiple submitters Leber congenital amaurosis 3
c.1161-9C>T Multiple submitters Leber congenital amaurosis 3
c.1216-19C>T Multiple submitters Leber congenital amaurosis 3
c.190+14A>G Multiple submitters Leber congenital amaurosis 3
c.372+7T>G Multiple submitters Leber congenital amaurosis 3
c.373-16T>C Multiple submitters Leber congenital amaurosis 3
c.846-6T>C Multiple submitters Leber congenital amaurosis 3
c.912+8G>A Multiple submitters Leber congenital amaurosis 3
p.Asn170= Multiple submitters Leber congenital amaurosis 3
p.Asp575Asn Multiple submitters Leber congenital amaurosis 3
p.Gln278= Multiple submitters Leber congenital amaurosis 3
p.Glu362= Multiple submitters
p.Gly189= Multiple submitters Leber congenital amaurosis 3
p.Leu415= Multiple submitters Leber congenital amaurosis 3
p.Phe393= Multiple submitters Leber congenital amaurosis 3
p.Pro180= Multiple submitters Leber congenital amaurosis 3
p.Pro190= Multiple submitters Leber congenital amaurosis 3
p.Ser149= Multiple submitters Leber congenital amaurosis 3
p.Ser188= Multiple submitters Leber congenital amaurosis 3
p.Ser218Leu Multiple submitters Leber congenital amaurosis 3
p.Ser254= Multiple submitters Leber congenital amaurosis 3
p.Ser570= Multiple submitters Leber congenital amaurosis 3
p.Thr241= Multiple submitters Leber congenital amaurosis 3
p.Val438= Multiple submitters Leber congenital amaurosis 3
c.1083-10_1083-7del Single submitter Leber congenital amaurosis 3
c.1083-12T>C Single submitter Leber congenital amaurosis 3
c.1083-15G>A Single submitter Leber congenital amaurosis 3
c.1160+18T>C Single submitter Leber congenital amaurosis 3
c.1161-16T>C Single submitter Leber congenital amaurosis 3
c.1161-8A>G Single submitter Leber congenital amaurosis 3
c.1215+12C>T Single submitter Leber congenital amaurosis 3
c.1215+14T>C Single submitter Leber congenital amaurosis 3
c.1215+7C>T Single submitter Leber congenital amaurosis 3
c.1216-17T>C Single submitter Leber congenital amaurosis 3
c.1216-20T>G Single submitter Leber congenital amaurosis 3
c.1216-4del Single submitter Leber congenital amaurosis 3
c.19+20G>A Single submitter Leber congenital amaurosis 3
c.190+11G>A Single submitter Leber congenital amaurosis 3
c.190+12C>A Single submitter Leber congenital amaurosis 3
c.191-14C>T Single submitter Leber congenital amaurosis 3
c.20-12T>C Single submitter Leber congenital amaurosis 3
c.20-14T>C Single submitter
c.20-18_20-17insC Single submitter Leber congenital amaurosis 3
c.20-8G>T Single submitter Leber congenital amaurosis 3
c.20-9T>C Single submitter Leber congenital amaurosis 3
c.238+17C>T Single submitter Leber congenital amaurosis 3
c.238+19T>C Single submitter
c.238+7A>G Single submitter Leber congenital amaurosis 3
c.239-14G>T Single submitter Leber congenital amaurosis 3
c.239-19G>T Single submitter Leber congenital amaurosis 3
c.372+10T>G Single submitter Leber congenital amaurosis 3
c.372+9G>A Single submitter Leber congenital amaurosis 3
c.373-12G>A Single submitter Leber congenital amaurosis 3
c.845+9C>T Single submitter Leber congenital amaurosis 3
c.912+10A>G Single submitter Leber congenital amaurosis 3
c.912+17C>A Single submitter
c.913-15T>G Single submitter Leber congenital amaurosis 3
c.94+19A>G Single submitter Leber congenital amaurosis 3
c.94+6dup Single submitter Leber congenital amaurosis 3
c.94+8A>G Single submitter Leber congenital amaurosis 3
c.95-19A>G Single submitter Leber congenital amaurosis 3
p.Ala220= Single submitter Leber congenital amaurosis 3
p.Ala305= Single submitter Leber congenital amaurosis 3
p.Ala318= Single submitter Leber congenital amaurosis 3
p.Ala81= Single submitter Leber congenital amaurosis 3
p.Arg108= Single submitter Leber congenital amaurosis 3
p.Arg156= Single submitter Leber congenital amaurosis 3
p.Arg257= Single submitter Leber congenital amaurosis 3
p.Arg86= Single submitter Leber congenital amaurosis 3
p.Asp544= Single submitter Leber congenital amaurosis 3
p.Asp579= Single submitter Leber congenital amaurosis 3
p.Cys34= Single submitter Leber congenital amaurosis 3
p.Gln130= Single submitter Leber congenital amaurosis 3
p.Gln430= Single submitter Leber congenital amaurosis 3
p.Gln83= Single submitter
p.Gln84= Single submitter Leber congenital amaurosis 3
p.Glu404= Single submitter Leber congenital amaurosis 3
p.Glu425= Single submitter Leber congenital amaurosis 3
p.Glu535= Single submitter Leber congenital amaurosis 3
p.Gly288= Single submitter Leber congenital amaurosis 3
p.Gly382= Single submitter
p.Gly574= Single submitter Leber congenital amaurosis 3
p.His413= Single submitter Leber congenital amaurosis 3
p.Ile397= Single submitter Leber congenital amaurosis 3
p.Ile59= Single submitter Leber congenital amaurosis 3
p.Leu150= Single submitter Leber congenital amaurosis 3
p.Leu157= Single submitter Leber congenital amaurosis 3
p.Leu159= Single submitter
p.Leu198= Single submitter Leber congenital amaurosis 3
p.Leu21= Single submitter Leber congenital amaurosis 3
p.Leu287= Single submitter Leber congenital amaurosis 3
p.Leu365= Single submitter Leber congenital amaurosis 3
p.Leu419= Single submitter Leber congenital amaurosis 3
p.Leu436= Single submitter Leber congenital amaurosis 3
p.Leu475= Single submitter Leber congenital amaurosis 3
p.Leu515= Single submitter Leber congenital amaurosis 3
p.Lys174= Single submitter Leber congenital amaurosis 3
p.Pro172= Single submitter Leber congenital amaurosis 3
p.Pro596= Single submitter Leber congenital amaurosis 3
p.Ser178= Single submitter Leber congenital amaurosis 3
p.Ser210= Single submitter Leber congenital amaurosis 3
p.Ser218= Single submitter Leber congenital amaurosis 3
p.Ser341= Single submitter Leber congenital amaurosis 3
p.Ser385= Single submitter Leber congenital amaurosis 3
p.Ser73= Single submitter Leber congenital amaurosis 3
p.Thr169= Single submitter Leber congenital amaurosis 3
p.Thr206= Single submitter Leber congenital amaurosis 3
p.Thr277= Single submitter Leber congenital amaurosis 3
p.Thr279= Single submitter Leber congenital amaurosis 3
p.Thr292Ile Single submitter Inborn genetic diseases
p.Thr310= Single submitter Leber congenital amaurosis 3
p.Thr422= Single submitter Leber congenital amaurosis 3
p.Thr489= Single submitter Leber congenital amaurosis 3
p.Tyr199= Single submitter Leber congenital amaurosis 3
p.Tyr259= Single submitter Leber congenital amaurosis 3
p.Val12= Single submitter Leber congenital amaurosis 3
p.Val428= Single submitter Leber congenital amaurosis 3
c.1029-10_1029-4del No assertion criteria SPATA7-related disorder

Uncertain significance 266

c.1028+5A>G Multiple submitters retinitis pigmentosa
c.190+3A>G Multiple submitters Leber congenital amaurosis 3
c.94+5G>A Multiple submitters Leber congenital amaurosis 3
p.Ala106Thr Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ala147Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala305Thr Multiple submitters Leber congenital amaurosis 3 ⚠
p.Arg191Gln Multiple submitters Leber congenital amaurosis 3 ⚠
p.Arg191Trp Multiple submitters Leber congenital amaurosis 3 ⚠
p.Arg212Gln Multiple submitters Leber congenital amaurosis 3 ⚠
p.Arg212Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg243His Multiple submitters Leber congenital amaurosis 3
p.Arg257His Multiple submitters Leber congenital amaurosis 3 ⚠
p.Arg356His Multiple submitters Leber congenital amaurosis 3 ⚠
p.Arg395Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg409Cys Multiple submitters Leber congenital amaurosis 3 ⚠
p.Arg409His Multiple submitters inherited retinal dystrophy ⚠
p.Arg85Gln Multiple submitters inherited retinal dystrophy ⚠
p.Asn386Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp133Ala Multiple submitters ⚠
p.Asp297Val Multiple submitters inherited retinal dystrophy ⚠
p.Asp312Gly Multiple submitters Leber congenital amaurosis 3 ⚠
p.Asp312Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp418His Multiple submitters Inborn genetic diseases ⚠
p.Asp82Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys20Gly Multiple submitters Inborn genetic diseases ⚠
p.Gln468Arg Multiple submitters Leber congenital amaurosis 3 ⚠
p.Gln565Lys Multiple submitters Leber congenital amaurosis 3 ⚠
p.Gln568His Multiple submitters Inborn genetic diseases ⚠
p.Gln83Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln95Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu128Lys Multiple submitters Leber congenital amaurosis 3 ⚠
p.Glu394Lys Multiple submitters inherited retinal dystrophy ⚠
p.Glu483Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly382Cys Multiple submitters retinitis pigmentosa ⚠
p.Gly420Asp Multiple submitters Leber congenital amaurosis 3 ⚠
p.His25Gln Multiple submitters Inborn genetic diseases ⚠
p.His410Asp Multiple submitters Leber congenital amaurosis 3 ⚠
p.His55Tyr Multiple submitters Inborn genetic diseases ⚠
p.His578Arg Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ile302Val Multiple submitters Inborn genetic diseases ⚠
p.Ile332Thr Multiple submitters inherited retinal dystrophy ⚠
p.Ile371Thr Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ile495Met Multiple submitters Inborn genetic diseases ⚠
p.Ile495Val Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ile505Val Multiple submitters Inborn genetic diseases ⚠
p.Ile541Asn Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ile541Thr Multiple submitters Leber congenital amaurosis 3 ⚠
p.Leu21Val Multiple submitters Leber congenital amaurosis 3 ⚠
p.Leu474Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu475Phe Multiple submitters retinitis pigmentosa ⚠
p.Leu556Val Multiple submitters Inborn genetic diseases ⚠
p.Lys104Arg Multiple submitters inherited retinal dystrophy ⚠
p.Lys137Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys263Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys265Arg Multiple submitters Leber congenital amaurosis 3 ⚠
p.Lys265Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys293Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys303Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys314Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys333Asn Multiple submitters Leber congenital amaurosis 3 ⚠
p.Lys469Met Multiple submitters Inborn genetic diseases ⚠
p.Lys49Arg Multiple submitters Leber congenital amaurosis 3 ⚠
p.Lys573Glu Multiple submitters Inborn genetic diseases ⚠
p.Met345Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe207Tyr Multiple submitters Leber congenital amaurosis 3 ⚠
p.Phe485Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro19Ala Multiple submitters Leber congenital amaurosis 3 ⚠
p.Pro239Leu Multiple submitters Inborn genetic diseases
p.Pro261Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro353Ala Multiple submitters inherited retinal dystrophy ⚠
p.Ser115Thr Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ser423Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser427Leu Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ser476Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser564Cys Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ser571Gly Multiple submitters Leber congenital amaurosis 3 ⚠
p.Ser69Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr35Ala Multiple submitters Leber congenital amaurosis 3 ⚠
p.Thr489Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr519Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr536Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr185His Multiple submitters Leber congenital amaurosis 3 ⚠
p.Tyr258Cys Multiple submitters Leber congenital amaurosis 3 ⚠
p.Tyr311Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr367Cys Multiple submitters retinitis pigmentosa 94, variable age at onset ⚠
p.Val12Ile Multiple submitters Leber congenital amaurosis 3 ⚠
p.Val216Ile Multiple submitters Leber congenital amaurosis 3 ⚠
p.Val417Leu Multiple submitters Inborn genetic diseases ⚠
p.Val550fs Multiple submitters Leber congenital amaurosis 3
p.Val66Ile Multiple submitters Leber congenital amaurosis 3 ⚠
c.1028+3A>C Single submitter Leber congenital amaurosis 3
c.1029-1G>T Single submitter
c.1082+3A>G Single submitter Leber congenital amaurosis 3
c.1082+5G>A Single submitter
c.1082+6A>C Single submitter Leber congenital amaurosis 3
c.1160+5G>T Single submitter Leber congenital amaurosis 3
c.1215+3T>A Single submitter Leber congenital amaurosis 3
c.238+2dup Single submitter Leber congenital amaurosis 3
c.94+5G>T Single submitter Leber congenital amaurosis 3
c.94+6T>G Single submitter Leber congenital amaurosis 3
p.Ala109Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ala109Val Single submitter Inborn genetic diseases ⚠
p.Ala147= Single submitter inherited retinal dystrophy
p.Ala186Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ala187Gly Single submitter Inborn genetic diseases ⚠
p.Ala187Pro Single submitter Leber congenital amaurosis 3 ⚠
p.Ala249Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ala336Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Ala344= Single submitter inherited retinal dystrophy
p.Ala444Gly Single submitter ⚠
p.Ala444Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ala470Pro Single submitter Leber congenital amaurosis 3 ⚠
p.Ala53Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ala65Val Single submitter Leber congenital amaurosis 3 ⚠
p.Arg202Lys Single submitter retinitis pigmentosa ⚠
p.Arg204Gly Single submitter inherited retinal dystrophy ⚠
p.Arg243Cys Single submitter
p.Arg257Pro Single submitter Leber congenital amaurosis 3 ⚠
p.Arg356Cys Single submitter ⚠
p.Arg41Gly Single submitter Inborn genetic diseases ⚠
p.Arg41Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Arg464His Single submitter Leber congenital amaurosis 3 ⚠
p.Arg5Trp Single submitter Leber congenital amaurosis 3 ⚠
p.Arg85Gly Single submitter Leber congenital amaurosis 3 ⚠
p.Arg86Gly Single submitter Leber congenital amaurosis 3 ⚠
p.Arg8Ile Single submitter ⚠
p.Asn301Ser Single submitter Inborn genetic diseases ⚠
p.Asn31Asp Single submitter Leber congenital amaurosis 3 ⚠
p.Asn31Lys Single submitter Leber congenital amaurosis 3 ⚠
p.Asn426Ser Single submitter ⚠
p.Asn454Asp Single submitter Leber congenital amaurosis 3 ⚠
p.Asn560Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Asn577Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Asp134Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Asp134Gly Single submitter Leber congenital amaurosis 3 ⚠
p.Asp224Gly Single submitter ⚠
p.Asp224Tyr Single submitter Leber congenital amaurosis 3 ⚠
p.Asp270Ala Single submitter Inborn genetic diseases ⚠
p.Asp270Tyr Single submitter Leber congenital amaurosis 3 ⚠
p.Asp297_Ser298del Single submitter Leber congenital amaurosis 3
p.Asp2His Single submitter Leber congenital amaurosis 3 ⚠
p.Asp326_Ser327delinsGlu Single submitter Leber congenital amaurosis 3
p.Asp335Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Asp376Gly Single submitter Leber congenital amaurosis 3 ⚠
p.Asp418Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Asp440Gly Single submitter Inborn genetic diseases ⚠
p.Asp521Gly Single submitter Leber congenital amaurosis 3 ⚠
p.Asp533Gly Single submitter Leber congenital amaurosis 3 ⚠
p.Asp544His Single submitter Leber congenital amaurosis 3 ⚠
p.Asp575Tyr Single submitter Leber congenital amaurosis 3 ⚠
p.Asp594Ter Single submitter
p.Cys96Phe Single submitter ⚠
p.Gln123Leu Single submitter Leber congenital amaurosis 3 ⚠
p.Gln278Arg Single submitter Inborn genetic diseases ⚠
p.Gln399His Single submitter Leber congenital amaurosis 3 ⚠
p.Gln430Glu Single submitter Inborn genetic diseases ⚠
p.Gln46Arg Single submitter Inborn genetic diseases ⚠
p.Gln508His Single submitter Inborn genetic diseases ⚠
p.Gln565Arg Single submitter Inborn genetic diseases ⚠
p.Gln568Arg Single submitter ⚠
p.Glu363Lys Single submitter Leber congenital amaurosis 3 ⚠
p.Glu364del Single submitter
p.Glu463Lys Single submitter Inborn genetic diseases ⚠
p.Glu490Lys Single submitter Leber congenital amaurosis 3 ⚠
p.Glu92Gln Single submitter Inborn genetic diseases ⚠
p.Glu99Val Single submitter Leber congenital amaurosis 3 ⚠
p.Gly189Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Gly288Trp Single submitter ⚠
p.Gly543Ser Single submitter Leber congenital amaurosis 3 ⚠
p.His158Asn Single submitter Leber congenital amaurosis 3 ⚠
p.His402Tyr Single submitter Leber congenital amaurosis 3 ⚠
p.His524Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Ile217Val Single submitter ⚠
p.Ile273Thr Single submitter Inborn genetic diseases ⚠
p.Ile541Val Single submitter Leber congenital amaurosis 3 ⚠
p.Ile592Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ile592Val Single submitter inherited retinal dystrophy ⚠
p.Leu150Pro Single submitter Leber congenital amaurosis 3 ⚠
p.Leu157Pro Single submitter Leber congenital amaurosis 3 ⚠
p.Leu215Ser Single submitter ⚠
p.Leu287Val Single submitter ⚠
p.Leu350Pro Single submitter Leber congenital amaurosis 3 ⚠
p.Leu381Phe Single submitter Leber congenital amaurosis 3 ⚠
p.Leu392_Arg395del Single submitter
p.Leu392Pro Single submitter Leber congenital amaurosis 3 ⚠
p.Leu40Phe Single submitter ⚠
p.Leu412= Single submitter retinitis pigmentosa
p.Leu42Arg Single submitter Inborn genetic diseases ⚠
p.Leu452Phe Single submitter ⚠
p.Leu597Ser Single submitter ⚠
p.Leu89Phe Single submitter Leber congenital amaurosis 3 ⚠
p.Lys104Glu Single submitter Leber congenital amaurosis 3 ⚠
p.Lys124Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Lys137Glu Single submitter Leber congenital amaurosis 3 ⚠
p.Lys263Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Lys263Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Lys314Glu Single submitter Leber congenital amaurosis 3 ⚠
p.Lys357Glu Single submitter Leber congenital amaurosis 3 ⚠
p.Lys407Ile Single submitter retinitis pigmentosa ⚠
p.Lys429Arg Single submitter ⚠
p.Lys443Glu Single submitter Leber congenital amaurosis 3 ⚠
p.Lys469Asn Single submitter Inborn genetic diseases ⚠
p.Lys49Asn Single submitter ⚠
p.Lys573Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Lys88= Single submitter inherited retinal dystrophy
p.Met140Val Single submitter ⚠
p.Met300Lys Single submitter Leber congenital amaurosis 3 ⚠
p.Met408_Lys416del Single submitter Leber congenital amaurosis 3
p.Met493Leu Single submitter Leber congenital amaurosis 3 ⚠
p.Met493Val Single submitter Leber congenital amaurosis 3 ⚠
p.Met580Val Single submitter ⚠
p.Phe100Ser Single submitter Inborn genetic diseases ⚠
p.Phe143Leu Single submitter retinitis pigmentosa ⚠
p.Phe252Leu Single submitter Leber congenital amaurosis 3 ⚠
p.Pro14Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Pro180Leu Single submitter Leber congenital amaurosis 3 ⚠
p.Pro190Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Pro208Leu Single submitter ⚠
p.Pro221Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Pro353Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Pro494Thr Single submitter Inborn genetic diseases ⚠
p.Pro547Arg Single submitter Inborn genetic diseases ⚠
p.Pro563Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Pro71Leu Single submitter Leber congenital amaurosis 3 ⚠
p.Ser145Tyr Single submitter Inborn genetic diseases ⚠
p.Ser149Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ser164Ala Single submitter Leber congenital amaurosis 3 ⚠
p.Ser179Tyr Single submitter Inborn genetic diseases ⚠
p.Ser182Gly Single submitter Inborn genetic diseases ⚠
p.Ser222Cys Single submitter ⚠
p.Ser222Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ser251Ala Single submitter inherited retinal dystrophy ⚠
p.Ser282Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Ser285Tyr Single submitter Leber congenital amaurosis 3 ⚠
p.Ser30Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Ser360Thr Single submitter Leber congenital amaurosis 3 ⚠
p.Ser37Ala Single submitter inherited retinal dystrophy ⚠
p.Ser4Arg Single submitter Leber congenital amaurosis 3 ⚠
p.Ser528fs Single submitter
p.Ser530Gly Single submitter Leber congenital amaurosis 3 ⚠
p.Ser537= Single submitter Leber congenital amaurosis 3
p.Ser564fs Single submitter Leber congenital amaurosis 3
p.Thr105Asn Single submitter Leber congenital amaurosis 3 ⚠
p.Thr121Ala Single submitter Leber congenital amaurosis 3 ⚠
p.Thr260Ile Single submitter ⚠
p.Thr277Ile Single submitter ⚠
p.Thr279Ile Single submitter Leber congenital amaurosis 3 ⚠
p.Thr28Ala Single submitter Leber congenital amaurosis 3 ⚠
p.Thr44Ser Single submitter Inborn genetic diseases ⚠
p.Thr532Ala Single submitter Inborn genetic diseases ⚠
p.Thr561= Single submitter Leber congenital amaurosis 3
p.Thr584Ala Single submitter Leber congenital amaurosis 3 ⚠
p.Thr76Ser Single submitter Leber congenital amaurosis 3 ⚠
p.Tyr16Cys Single submitter Leber congenital amaurosis 3 ⚠
p.Tyr199Cys Single submitter Inborn genetic diseases ⚠
p.Tyr359Phe Single submitter Leber congenital amaurosis 3 ⚠
p.Val151Ile Single submitter Leber congenital amaurosis 3 ⚠
p.Val414_Val417del Single submitter inherited retinal dystrophy
p.Val428Gly Single submitter retinitis pigmentosa ⚠
p.Val550Ala Single submitter ⚠
p.Val572Asp Single submitter Leber congenital amaurosis 3 ⚠
p.Val7Leu Single submitter Leber congenital amaurosis 3 ⚠
p.Asn170Ser No assertion criteria inherited retinal dystrophy ⚠
p.Asp434Gly No assertion criteria optic atrophy ⚠
p.His211Tyr No assertion criteria SPATA7-related disorder ⚠
p.Ser11Thr No assertion criteria inherited retinal dystrophy ⚠