TAZ, tafazzin, 6901

N. diseases: 4; N. variants: 24
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894942
rs104894942
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		A 0.810 CausalMutation CLINVAR
dbSNP: rs104894937
rs104894937
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs132630277
rs132630277
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907218
rs387907218
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907218
rs387907218
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0007193
Disease:
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
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0007193
Disease:
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
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0007193
Disease:
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
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR Two cases of endocardial fibroelastosis--possible x-linked determination. 4685904 1973
dbSNP: rs1557194488
rs1557194488
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
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: rs1569552731
rs1569552731
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
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: rs1085307797
rs1085307797
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		A 0.700 CausalMutation CLINVAR Cardiomyopathy in a male patient with neutropenia and growth delay. 24887148 2014
dbSNP: rs1060500044
rs1060500044
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
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: rs1085307797
rs1085307797
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
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
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
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: rs1569552731
rs1569552731
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR New clinical and molecular insights on Barth syndrome. 23409742 2013
dbSNP: rs397515747
rs397515747
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
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: rs397515739
rs397515739
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		C 0.700 GeneticVariation CLINVAR Barth syndrome mutations that cause tafazzin complex lability. 21300850 2011
dbSNP: rs397515741
rs397515741
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		C 0.700 CausalMutation CLINVAR Barth syndrome mutations that cause tafazzin complex lability. 21300850 2011
dbSNP: rs727504327
rs727504327
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Barth syndrome mutations that cause tafazzin complex lability. 21300850 2011
dbSNP: rs727504327
rs727504327
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		A 0.700 GeneticVariation CLINVAR Barth syndrome mutations that cause tafazzin complex lability. 21300850 2011
dbSNP: rs1060500044
rs1060500044
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
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
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
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: rs1085307797
rs1085307797
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0574083
Disease:
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: rs1569552731
rs1569552731
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
3-Methylglutaconic aciduria type 2 		T 0.700 CausalMutation CLINVAR Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. 16873891 2006
dbSNP: rs1060500044
rs1060500044
Entrez Id: 1774;6901
Gene Symbol: DNASE1L1;TAZ
DNASE1L1;TAZ
CUI: C0574083
Disease:
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