Hyaline body myopathy: genes and variants
Explore variant evidence for Hyaline body myopathy across 1 analyzed protein (MYH7). Linked ClinVar records include 13 pathogenic or likely pathogenic variants, 68 variants of uncertain significance and 34 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 Hyaline body myopathy
MYH7: Myosin-7
Its beta-myosin motor converts ATP hydrolysis into force within cardiac and slow-skeletal-muscle sarcomeres. Pathogenic variants are major causes of hypertrophic and dilated cardiomyopathy and can also produce inherited skeletal myopathies.
13 ClinVar pathogenic / likely pathogenic and 102 uncertain variants in MYH7 have source records linked to Hyaline body myopathy. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Hyaline body myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MYH7 A355T | 355 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 R442C | 442 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 R663C | 663 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 R1500W | 1500 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| MYH7 E525K | 525 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 V606M | 606 | Myosin motor | Pathogenic / likely pathogenic (★★) |
| MYH7 E924K | 924 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| MYH7 L1646P | 1646 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| MYH7 A797T | 797 | IQ | Pathogenic / likely pathogenic (★★) |
| MYH7 E930Q | 930 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| MYH7 A1603P | 1603 | Coiled coil | Pathogenic / likely pathogenic (★★) |
| MYH7 L1723P | 1723 | Coiled coil | Pathogenic / likely pathogenic (★) |
| MYH7 H1901L | 1901 | Coiled coil | Pathogenic / likely pathogenic |
Which prediction tools work for Hyaline body myopathy
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- CATVariant: 82 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 76 out of 100
- PolyPhen-2: 74 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Hypertrophic cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Hyaline body myopathy variants (239 pathogenic / likely pathogenic).
- Cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Hyaline body myopathy variants (24 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Hyaline body myopathy variants (21 pathogenic / likely pathogenic).
- Primary dilated cardiomyopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Hyaline body myopathy variants (15 pathogenic / likely pathogenic).
- MYH7-related skeletal myopathy also has ClinVar records linked to MYH7 variants; they fall mostly in different places as the Hyaline body myopathy variants (7 pathogenic / likely pathogenic).
Diseases related to Hyaline body myopathy
- Hypertrophic cardiomyopathy, also linked to MYH7
- Dilated cardiomyopathy, also linked to MYH7
- Arrhythmogenic right ventricular dysplasia, also linked to MYH7
- Cardiomyopathy, also linked to MYH7
- Primary dilated cardiomyopathy, also linked to MYH7
- Primary familial hypertrophic cardiomyopathy, also linked to MYH7
- Left ventricular noncompaction, also linked to MYH7
- Primary familial dilated cardiomyopathy, also linked to MYH7
- Familial cardiomyopathy, also linked to MYH7
- MYH7-related skeletal myopathy, also linked to MYH7
- Restrictive cardiomyopathy, also linked to MYH7
- Congenital fiber-type disproportion myopathy, also linked to MYH7
Frequently asked questions
Which genes have records linked to Hyaline body myopathy?
This view contains 1 analyzed proteins: MYH7. 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 13 pathogenic or likely pathogenic variants, 68 variants of uncertain significance and 34 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 115 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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