Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894942
rs104894942
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.810 CausalMutation CLINVAR

dbSNP: rs104894937
rs104894937
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		C 0.800 CausalMutation CLINVAR

dbSNP: rs132630277
rs132630277
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387907218
rs387907218
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. 11896212

2002
dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. 12468278

2002
dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096

1997
dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR Two cases of endocardial fibroelastosis--possible x-linked determination. 4685904

1973
dbSNP: rs104894941
rs104894941
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500044
rs1060500044
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR Natural history of Barth syndrome: a national cohort study of 22 patients. 23656970

2013
dbSNP: rs1060500044
rs1060500044
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. 20812380

2010
dbSNP: rs1060500044
rs1060500044
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. 16548007

2006
dbSNP: rs1060500044
rs1060500044
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. 12032589

2002
dbSNP: rs1060500044
rs1060500044
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR Mutation characterization and genotype-phenotype correlation in Barth syndrome. 9345098

1997
dbSNP: rs1085307797
rs1085307797
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 CausalMutation CLINVAR Cardiomyopathy in a male patient with neutropenia and growth delay. 24887148

2014
dbSNP: rs1085307797
rs1085307797
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 CausalMutation CLINVAR Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. 23361305

2013
dbSNP: rs1085307797
rs1085307797
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 CausalMutation CLINVAR Natural history of Barth syndrome: a national cohort study of 22 patients. 23656970

2013
dbSNP: rs1085307797
rs1085307797
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 CausalMutation CLINVAR Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. 16880272

2006
dbSNP: rs1085307797
rs1085307797
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 CausalMutation CLINVAR The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096

1997
dbSNP: rs1557194488
rs1557194488
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		G 0.700 GeneticVariation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208

2018
dbSNP: rs1557194525
rs1557194525
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557194525
rs1557194525
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557194525
rs1557194525
TAZ
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569552731
rs1569552731
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. 28183324

2017
dbSNP: rs1569552731
rs1569552731
DNASE1L1 ; TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR New clinical and molecular insights on Barth syndrome. 23409742

2013