Aliases: CMH10.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Hypertrophic Cardiomyopathy 10 | causative |
mechanism: MYL2 Variant in Ventricular Regulatory Myosin Light Chain
variant: MYL2 c.403-1G>C — recessive cryptic-splice allele; MYL2 c.64G>A p.(Glu22Lys) — Dutch founder allele; MYL2 p.(Ala13Thr) — mid-ventricular obstruction allele; MYL2 p.(Arg58Gln) — malignant missense allele
animal model: Tg-R58Q transgenic mouse (ventricular RLC R58Q)
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| Hypertrophic Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomere Protein Mutations
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| dilated cardiomyopathy MONDO:0005021 | AD | Limited 2025-05-16 |
Dilated Cardiomyopathy
untyped
|
| hypertrophic cardiomyopathy MONDO:0005045 | AD | Definitive 2026-01-13 |
Hypertrophic Cardiomyopathy
untyped
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | No Known Disease Relationship 2019-05-24 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.