Source: CLINVAR

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853006
rs137853006
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.710 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs137853006
rs137853006
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.710 GeneticVariation CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668

2008

dbSNP: rs201422368
rs201422368
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.710 CausalMutation CLINVAR Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. 25983245

2015

dbSNP: rs786205665
rs786205665
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.710 CausalMutation CLINVAR Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. 25983245

2015

dbSNP: rs104894927
rs104894927
RP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs104894927
rs104894927
RP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. 10053026

1999

dbSNP: rs1057518802
rs1057518802
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR

dbSNP: rs1057518939
rs1057518939
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1064793014
rs1064793014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs1064793014
rs1064793014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811

2015

dbSNP: rs111733491
rs111733491
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs113624356
rs113624356
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2017

dbSNP: rs113624356
rs113624356
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs113624356
rs113624356
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002

dbSNP: rs121908282
rs121908282
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs121908282
rs121908282
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958

2006

dbSNP: rs121909398
rs121909398
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs121909398
rs121909398
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825

2004

dbSNP: rs121918244
rs121918244
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs121918244
rs121918244
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 15723066

2005

dbSNP: rs137853005
rs137853005
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2017

dbSNP: rs137853907
rs137853907
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

dbSNP: rs137853907
rs137853907
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2012

dbSNP: rs143994166
rs143994166
EYS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR

dbSNP: rs145282040
rs145282040
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017