Previous symbols: CMH4. Aliases: FHC, cMyBP-C.
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 |
|---|---|---|
| arrhythmogenic right ventricular cardiomyopathy | unknown germline | |
| Dilated Cardiomyopathy 1W | modifier germline | |
| Hypertrophic Cardiomyopathy 4 | causative germline loss of function |
mechanism: MYBPC3 Truncating Variant and Premature Termination Codon Generation
variant: MYBPC3 25-bp deletion - South Asian risk allele; MYBPC3 c.2373dup (p.Trp792fs) - Dutch founder variant; MYBPC3 c.3330+2T>G - Amish/Swiss founder splice variant
|
| Left Ventricular Noncompaction 10 | causative |
mechanism: MYBPC3 Loss-of-Function Variant and cMyBP-C Depletion
variant: MYBPC3 c.2373dup (p.Trp792fs) and c.2827C>T (p.Arg943*) - Dutch founder variants; MYBPC3 loss-of-function allele in trans with a de novo missense allele (Kolokotronis 2019)
animal model: Compound heterozygous MYBPC3 cloned pig; Homozygous cMyBP-C-deficient mouse (Mybpc3 t/t); Mybpc3-targeted knock-in mouse (homozygous exon 6 G>A); Tet-Off conditional cMyBP-C re-expression mouse (MYBPC3 null background); mybpc3 knockout zebrafish
dataset: geo:GSE140965; geo:GSE262253; geo:GSE274124
|
| 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 2026-03-04 |
Dilated Cardiomyopathy
untyped
|
| dilated cardiomyopathy MONDO:0005021 | AR | Limited 2025-05-16 |
Dilated Cardiomyopathy
untyped
|
| hypertrophic cardiomyopathy MONDO:0005045 | AD | Definitive 2021-10-07 |
Hypertrophic Cardiomyopathy
untyped
|
| congenital heart disease MONDO:0005453 | AD | Limited 2024-07-08 |
Congenital Heart Disease
not named
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | Limited 2019-08-06 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.