Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0557874
Disease:
Global developmental delay 		0.710 GeneticVariation BEFREE We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0557874
Disease:
Global developmental delay 		T 0.710 GeneticVariation CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0029124
Disease:
Optic Atrophy 		T 0.700 GeneticVariation CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0031117
Disease:
Peripheral Neuropathy 		T 0.700 GeneticVariation CLINVAR Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307 2016
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307 2016
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C4310677
Disease:
HAREL-YOON SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557458134
rs1557458134
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C4310677
Disease:
HAREL-YOON SYNDROME 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs200344678
rs200344678
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C4310677
Disease:
HAREL-YOON SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016
dbSNP: rs1057517686
rs1057517686
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation BEFREE We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016