Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. 22661473

2012

dbSNP: rs1800553
rs1800553
0.730 GeneticVariation BEFREE To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. 22312191

2012

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. 22312191

2012

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2011

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR Loss of peripapillary sparing in non-group I Stargardt disease. 20696155

2010

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009

dbSNP: rs1800553
rs1800553
0.730 GeneticVariation BEFREE In these patients with Stargardt disease and a Gly1961Glu mutation, most showed a clinical phenotype characterized by fundus changes localized to the foveal and parafoveal regions, normal ERG amplitudes, absence of a silent or masked choroid, and a mean age at initial presentation in the third decade. 19578016

2009

dbSNP: rs1800553
rs1800553
0.730 GeneticVariation BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811

2007

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000

dbSNP: rs1800553
rs1800553
T 0.730 CausalMutation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997

dbSNP: rs76157638
rs76157638
G 0.720 CausalMutation CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885

2014

dbSNP: rs76157638
rs76157638
G 0.720 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285

2013

dbSNP: rs76157638
rs76157638
0.720 GeneticVariation BEFREE In family A, 2 sisters were diagnosed with Stargardt's disease (STGD); the eldest sister was compound heterozygous for the mild 2588G-->C and the severe 768G-->T mutation. 15019334

2004

dbSNP: rs76157638
rs76157638
G 0.720 CausalMutation CLINVAR Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 11919200

2002

dbSNP: rs76157638
rs76157638
G 0.720 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000

dbSNP: rs76157638
rs76157638
G 0.720 CausalMutation CLINVAR A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508

1999

dbSNP: rs76157638
rs76157638
0.720 GeneticVariation BEFREE The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. 10090887

1999

dbSNP: rs76157638
rs76157638
G 0.720 CausalMutation CLINVAR The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. 10090887

1999

dbSNP: rs76157638
rs76157638
G 0.720 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997

dbSNP: rs760549861
rs760549861
A 0.710 CausalMutation CLINVAR Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation. 29422768

2018

dbSNP: rs760549861
rs760549861
A 0.710 CausalMutation CLINVAR Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. 28130426

2017

dbSNP: rs61751374
rs61751374
A 0.710 GeneticVariation CLINVAR Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. 26593885

2016

dbSNP: rs61751374
rs61751374
A 0.710 GeneticVariation CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131

2015