"Cohesion Phenomics"[submitter] AND "MYL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36646	NM_000432.4(MYL2):c.381G>A (p.Ala127=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 31772	NM_000432.4(MYL2):c.353+20del	MYL2	Deletion (intron variant)	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy +4 more	GBenign
Select item 36643	NM_000432.4(MYL2):c.170-19T>C	MYL2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1621503	NM_000432.4(MYL2):c.169+13C>T	MYL2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 10	GLikely benign
Select item 31771	NM_000432.4(MYL2):c.132T>C (p.Ile44=)	MYL2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign
Select item 43474	NM_000432.4(MYL2):c.4-14C>T	MYL2, LOC114827850	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign

ClinVar