Table 4.

Variants identified in myosin light chain (MLC) genes.

Patient ID	Gene	Transcript	Genotype	Variant type	AA change	rs ID	CADD	ACMG/ClinVar	GnomAD-AF	Additional variant
HCM-80	MYL2	NM_000432	Het	Missense	Ex5:p.(Gly92Ala)	NA	25.2	VUS/NA	NA	Unique variant
HCM-77	MYL3	NM_000258	Hom	Missense	Ex3:p.(Ala57Asp)	rs139794067	29.8	VUS/Conflicting	0.0001627	Unique variant
HCM-78	MYL3	NM_000258	Het	Missense	Ex3:p.(Arg94Cys)	rs730880961	33	VUS/VUS	0.00002388	Unique variant
HCM-79	MYL3	NM_000258	Het	Missense	Ex5:p.(Arg163Thr)	rs752165383	25.0	VUS/VUS	0.000003998	Unique variant

AA, amino acid; ACMG, American College of Medical Genetics and Genomics; Het, heterozygous; Hom, homozygous; VUS, variant of uncertain significance; NA, no data available; Conflicting, conflicting interpretations of pathogenicity; CADD, combined annotation-dependent depletion scores according to CADD model v1.3; GnomAD-AF, allele frequency according to gnomAD V2.1.