Dilated cardiomyopathy - hypergonadotropic hypogonadism: genes and variants
Explore variant evidence for Dilated cardiomyopathy - hypergonadotropic hypogonadism across 1 analyzed protein (LMNA). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 25 variants of uncertain significance and 19 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 Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA: Prelamin-A/C
The gene product produces lamins A and C, structural proteins that form the nuclear lamina beneath the inner nuclear membrane. Lamins help maintain nuclear shape and organize chromatin, and LMNA variants are associated with muscular dystrophy, cardiomyopathy, lipodystrophy, and premature-aging syndromes.
2 ClinVar pathogenic / likely pathogenic and 44 uncertain variants in LMNA have source records linked to Dilated cardiomyopathy - hypergonadotropic hypogonadism. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Dilated cardiomyopathy - hypergonadotropic hypogonadism
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LMNA A57P | 57 | IF rod | Pathogenic / likely pathogenic |
| LMNA L59R | 59 | IF rod | Pathogenic / likely pathogenic |
Same protein, different disease
- Dejerine-Sottas disease also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy - hypergonadotropic hypogonadism variants (130 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy - hypergonadotropic hypogonadism variants (21 pathogenic / likely pathogenic).
- Familial partial lipodystrophy, Dunnigan type also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy - hypergonadotropic hypogonadism variants (13 pathogenic / likely pathogenic).
- Emery-Dreifuss muscular dystrophy also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy - hypergonadotropic hypogonadism variants (12 pathogenic / likely pathogenic).
- Congenital muscular dystrophy due to LMNA mutation also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy - hypergonadotropic hypogonadism variants (11 pathogenic / likely pathogenic).
Diseases related to Dilated cardiomyopathy - hypergonadotropic hypogonadism
- Dejerine-Sottas disease, also linked to LMNA
- Dilated cardiomyopathy, also linked to LMNA
- Bethlem myopathy, also linked to LMNA
- Arrhythmogenic right ventricular dysplasia, also linked to LMNA
- Cardiomyopathy, also linked to LMNA
- Primary dilated cardiomyopathy, also linked to LMNA
- Familial partial lipodystrophy, Dunnigan type, also linked to LMNA
- Emery-Dreifuss muscular dystrophy, also linked to LMNA
- Congenital muscular dystrophy due to LMNA mutation, also linked to LMNA
- Muscular dystrophy, also linked to LMNA
- Hutchinson-Gilford syndrome, also linked to LMNA
- Primary familial dilated cardiomyopathy, also linked to LMNA
Frequently asked questions
Which genes have records linked to Dilated cardiomyopathy - hypergonadotropic hypogonadism?
This view contains 1 analyzed proteins: LMNA. 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 2 pathogenic or likely pathogenic variants, 25 variants of uncertain significance and 19 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 47 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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