Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
ABCA4
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
ABCA4
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
ABCA4
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: rs76157638
rs76157638
ABCA4
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
ABCA4
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: rs61751374
rs61751374
ABCA4
0.710 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: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 15579991

2004
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 9466990

1998
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710

2000
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation 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: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation 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: rs61751374
rs61751374
ABCA4
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
ABCA4
A 0.710 GeneticVariation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131

2015
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
dbSNP: rs760549861
rs760549861
ABCA4
0.710 GeneticVariation BEFREE ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. 23419329

2013
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 25910913

2015
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885

2014
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811

2014
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients. 22328824

2012