Barth syndrome: genes and variants
Explore variant evidence for Barth syndrome across 1 analyzed protein (TAFAZZIN). Linked ClinVar records include 12 pathogenic or likely pathogenic variants, 101 variants of uncertain significance and 4 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Barth syndrome
TAFAZZIN: Tafazzin
It remodels mitochondrial cardiolipin so the inner mitochondrial membrane can support efficient respiratory-chain organization and energy production. Loss-of-function variants cause Barth syndrome, characterized by cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and abnormal cardiolipin composition.
12 ClinVar pathogenic / likely pathogenic and 105 uncertain variants in TAFAZZIN have source records linked to Barth syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Barth syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TAFAZZIN R94C | 94 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★★) |
| TAFAZZIN R94G | 94 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★★) |
| TAFAZZIN R94S | 94 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★★) |
| TAFAZZIN R94L | 94 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★★) |
| TAFAZZIN R94H | 94 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★★) |
| TAFAZZIN G186R | 186 | Mitochondrial targeting sequence | Pathogenic / likely pathogenic (★★) |
| TAFAZZIN G80R | 80 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★★) |
| TAFAZZIN C103R | 103 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★) |
| TAFAZZIN G124R | 124 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★) |
| TAFAZZIN C72F | 72 | HXXXXD motif | Pathogenic / likely pathogenic (★) |
| TAFAZZIN D74E | 74 | HXXXXD motif | Pathogenic / likely pathogenic (★) |
| TAFAZZIN F148I | 148 | Mitochondrial intermembrane | Pathogenic / likely pathogenic (★) |
Diseases related to Barth syndrome
- Dilated cardiomyopathy, also linked to TAFAZZIN
Frequently asked questions
Which genes have records linked to Barth syndrome?
This view contains 1 analyzed proteins: TAFAZZIN. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 12 pathogenic or likely pathogenic variants, 101 variants of uncertain significance and 4 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 152 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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