Dilated cardiomyopathy 1HH: genes and variants
Dilated cardiomyopathy 1HH is linked to 1 analyzed protein (BAG3). 5 DNA variants are known to cause it; 538 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dilated cardiomyopathy 1HH
BAG3: BAG family molecular chaperone regulator 3
It coordinates chaperone-assisted protein quality control and autophagy, particularly in mechanically stressed cardiac and skeletal muscle. Pathogenic variants can impair sarcomere maintenance and cause dilated cardiomyopathy or myofibrillar myopathy.
5 disease-causing and 538 uncertain variants in BAG3 are linked to Dilated cardiomyopathy 1HH.
Known disease-causing variants in Dilated cardiomyopathy 1HH
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BAG3 P209S | 209 | Disease-causing (★★) | |
| BAG3 P209L | 209 | Disease-causing (★★) | |
| BAG3 E455K | 455 | BAG | Disease-causing (★★) |
| BAG3 P470S | 470 | BAG | Disease-causing (★★) |
| BAG3 P209Q | 209 | Disease-causing (★) |
Diseases related to Dilated cardiomyopathy 1HH
- Hypertrophic cardiomyopathy, also linked to BAG3
- Dilated cardiomyopathy, also linked to BAG3
- Myofibrillar myopathy, also linked to BAG3
- Familial isolated dilated cardiomyopathy, also linked to BAG3
Frequently asked questions
Which genes are linked to Dilated cardiomyopathy 1HH?
In CATVariant, Dilated cardiomyopathy 1HH is linked to 1 analyzed protein: BAG3 (BAG family molecular chaperone regulator 3).
How many genetic variants are linked to Dilated cardiomyopathy 1HH?
602 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 538 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dilated cardiomyopathy 1HH look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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