Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
ACTN2 Actinin alpha2      | 1q42-q43 | * Hypertrophic cardiomyopathy related to actinin-2 - (3.34, 4.10, 10.25, 10.65)* dilated cardiomyopathy, 1aa - CMD1AA (3.34, 4.10, 10.25, 10.65)* Congenital myopathy 8 - CMYP8 (3.34, 4.10, 10.25, 10.65)* Myopathy, distal 6, Adult-onset - MPD6 (3.34, 4.10, 10.25, 10.65) |