All variants in the TAZ gene

Information The variants shown are described using the NM_000116.3 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
Legend   How to query  

Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Type     
DNA change (genomic) (hg19)     
Reference     
DB-ID     
Frequency     
Variant remarks     
ClassClinical     
Owner     
./. 10 c.700_701ins? - - Insertion - GenBank TAZ_00014 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 01 c.9dup - p.His4AlafsX130 Duplication - GenBank TAZ_00027 - - - Qi Ming
./. 01 c.53_54del - p.Leu19GlyfsX114 Deletion - GenBank TAZ_00001 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 01 c.109+1G>C - - Substitution - GenBank TAZ_00050 - - - Qi Ming
./. 01 c.109+5G>A - - Substitution - GenBank TAZ_00002 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 02 c.110-2A>G - - Substitution - GenBank TAZ_00054 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 02 c.123del - p.Leu42X Deletion - GenBank TAZ_00032 - - - Qi Ming
./. 02 c.127A>C - p.Thr43Pro Substitution - GenBank TAZ_00049 - Female carriers are usually healthy. In our case, the patient's mother, who is the carrier of the de novo mutation, had a normal electrocardiogram while her echo-cardiography demonstrated trabeculations of the left ventricle though did not fulfill the criteria of LVNC [24]. Her total cardiac function was normal - Qi Ming
./. 02 c.140_152del - p.Arg47ThrfsX32 Deletion - GenBank TAZ_00055 - - - Qi Ming
./. 02 c.140_152del - p.Arg47ThrfsX32 Deletion - GenBank TAZ_00038 - the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder - Qi Ming
./. 02 c.153C>A - p.Tyr51X Substitution - GenBank TAZ_00016 - - - Qi Ming
./. 02 c.153C>A - p.Tyr51X Substitution - GenBank TAZ_00016 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 02 c.153C>G - p.Tyr51X Substitution - GenBank TAZ_00017 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 02 c.153C>G - p.Tyr51X Substitution - GenBank TAZ_00017 - - - Qi Ming
./. 02 c.153C>G - p.Tyr51X Substitution - GenBank TAZ_00017 - - - Qi Ming
./. 02 c.159dup - p.Ile54HisfsX80 Duplication - GenBank TAZ_00041 - LVNC, like other forms of inherited cardiomyopathy, is a genetically heterogeneous disease, associated with variable clinical symptoms and can be inherited as an autosomal or X-linked recessive disorder. - Qi Ming
./. 02 c.159dup - p.Ile54HisfsX80 Duplication - GenBank TAZ_00064 - - - Qi Ming
./. 02 c.173del - p.Gly58AlafsX25 Deletion - GenBank TAZ_00063 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 02 c.207C>A - p.His69Gln Substitution - GenBank TAZ_00018 - - - Qi Ming
./. 02 c.207C>A - p.His69Gln Substitution - GenBank TAZ_00018 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5 - Qi Ming
./. 02 c.207C>G - p.His69Gln Substitution - GenBank TAZ_00019 - - - Qi Ming
./. 02 c.207C>G - p.His69Gln Substitution - GenBank TAZ_00019 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 02 c.238+2T>G - - Substitution - GenBank TAZ_00053 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 03 c.239-1G>A - - Substitution - GenBank TAZ_00056 - - - Qi Ming
./. 03 c.239-1G>A - - Substitution - GenBank TAZ_00021 - BTHS is caused by mutations in the tafazzin (TAZ) gene, which is located at Xq28 - Qi Ming
./. 03 c.239-1G>C - - Substitution - GenBank TAZ_00057 - - - Qi Ming
./. 03 c.239_240insC - p.Ile81AspfsX53 Insertion - GenBank TAZ_00061 - - - Qi Ming
./. 03 c.280C>A - p.Arg94Ser Substitution - GenBank TAZ_00037 - another patient with a missense mutation at the same position (R94C) has been previously reported (Johnston et al. 1997). These data suggest that R94S is not a common polymorphism, but a disease-causing mutation. - Qi Ming
./. 03 c.280C>T - p.Arg94Cys Substitution - GenBank TAZ_00007 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 03 c.280C>T - p.Arg94Cys Substitution - GenBank TAZ_00007 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 03 c.281G>A - p.Arg94His Substitution - GenBank TAZ_00042 - Characteristic cardiac pathology findings of a TAZ gene mutation are seen in a fetus at 18 weeks - Qi Ming
./. 03 c.284+110G>A - - Substitution - GenBank TAZ_00034 - - - Qi Ming
./. 04 c.352T>C - p.Cys118Arg Substitution - GenBank TAZ_00030 - - - Qi Ming
./. 04 c.352T>C - p.Cys118Arg Substitution - GenBank TAZ_00030 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 04 c.367C>T - p.Arg123X Substitution - GenBank TAZ_00044 - BTHS is caused by mutations in the tafazzin (TAZ) gene, which is located at Xq28 - Qi Ming
./. 05 c.371-2A>G - - Substitution - GenBank TAZ_00059 - - - Qi Ming
./. 06 c.532T>A - p.Phe178Ile Substitution - GenBank TAZ_00022 - - - Qi Ming
./. 06 c.532T>A - p.Phe178Ile Substitution - GenBank TAZ_00022 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 06 c.535del - p.Pro179GlnfsX5 Deletion - GenBank TAZ_00039 - - - Qi Ming
./. 06 c.541+1G>A - - Substitution - GenBank TAZ_00046 - - - Qi Ming
./. 07 c.548T>G - p.Val183Gly Substitution - GenBank TAZ_00028 - - - Qi Ming
./. 07 c.548T>G - p.Val183Gly Substitution - GenBank TAZ_00028 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 07 c.562G>T - p.Glu188X Substitution - GenBank TAZ_00035 - - - Qi Ming
./. 07 c.580dup - p.Trp194LeufsX9 Duplication - GenBank TAZ_00065 - - - Qi Ming
./. 07 c.580dup - p.Trp194LeufsX9 Duplication - GenBank TAZ_00043 - BTHS is caused by mutations in the tafazzin (TAZ) gene, which is located at Xq28 - Qi Ming
./. 08 c.589G>A - p.Gly197Arg Substitution - GenBank TAZ_00009 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 08 c.589G>A - p.Gly197Arg Substitution - GenBank TAZ_00009 - - - Qi Ming
./. 08 c.589G>A - p.Gly197Arg Substitution - GenBank TAZ_00009 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 08 c.589G>A - p.Gly197Arg Substitution - GenBank TAZ_00009 - - - Qi Ming
./. 08 c.589G>A - p.Gly197Arg Substitution - GenBank TAZ_00009 - - - Qi Ming
./. 08 c.589G>A - p.Gly197Arg Substitution - GenBank TAZ_00009 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 08 c.590G>A - p.Gly197Glu Substitution - GenBank TAZ_00008 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 08 c.590G>A - p.Gly197Glu Substitution - GenBank TAZ_00008 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 08 c.590G>T - p.Gly197Val Substitution - GenBank TAZ_00060 - - - Qi Ming
./. 08 c.604_605insT - p.Glu202ValfsX18 Insertion - GenBank TAZ_00048 - - - Qi Ming
./. 08 c.625_626delATinsGA - p.Ile209Asp Insertion/Deletion - GenBank TAZ_00062 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 08 c.625_626delATinsGA - p.Ile209Asp Insertion/Deletion - GenBank TAZ_00062 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 08 c.629T>G - p.Leu210Arg Substitution - GenBank TAZ_00029 - - - Qi Ming
./. 08 c.629T>G - p.Leu210Arg Substitution - GenBank TAZ_00029 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 08 c.634del - p.Leu212CysfsX6 Deletion - GenBank TAZ_00058 - - - Qi Ming
./. 08 c.634del - p.Leu212CysfsX6 Deletion - GenBank TAZ_00066 - BTHS is caused by mutations in the tafazzin (TAZ) gene, which is located at Xq28 - Qi Ming
./. 08 c.635T>C - p.Leu212Pro Substitution - GenBank TAZ_00011 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 08 c.635T>C - p.Leu212Pro Substitution - GenBank TAZ_00011 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 08 c.646G>A - p.Gly216Arg Substitution - GenBank TAZ_00025 - - - Qi Ming
./. 08 c.646G>A - p.Gly216Arg Substitution - GenBank TAZ_00025 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 09 c.647-1G>C - - Substitution - GenBank TAZ_00040 - LVNC, like other forms of inherited cardiomyopathy, is a genetically heterogeneous disease, associated with variable clinical symptoms and can be inherited as an autosomal or X-linked recessive disorder. - Qi Ming
./. 09 c.647-1G>C - - Substitution - GenBank TAZ_00051 - - - Qi Ming
./. 09 c.684del - p.Arg230AlafsX9 Deletion - GenBank TAZ_00012 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 09 c.697C>T - p.Gln233X Substitution - GenBank TAZ_00013 - The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder. - Qi Ming
./. 09 c.697C>T - p.Gln233X Substitution - GenBank TAZ_00013 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 10 c.700-2A>C - - Substitution - GenBank TAZ_00045 - BTHS is caused by mutations in the tafazzin (TAZ) gene, which is located at Xq28 - Qi Ming
./. 10 c.718G>A - p.Gly240Arg Substitution - GenBank TAZ_00036 - - - Qi Ming
./. 10 c.718G>A - p.Gly240Arg Substitution - GenBank TAZ_00036 - We suggest that males presenting with cardiomyopathy, particularly during infancy, even in the absence of the typical signs of Barth syndrome, should be evaluated for mutations in G4.5. - Qi Ming
./. 10 c.718G>C - p.Gly240Arg Substitution - GenBank TAZ_00026 - - - Qi Ming
./. 10 c.777+2T>A - - Substitution - GenBank TAZ_00031 - - - Qi Ming
./. 11 c.868_872dupCCTGG - p.Arg292LeufsX49 Duplication - GenBank TAZ_00047 - We report multiple transmissions of Barth syndrome through a single oocyte donor with a de novo TAZ mutation. - Qi Ming
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		An error occured while checking for updates.