Related gene-specific medical variations for Gene (Select 85366) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362886	NM_033118.4(MYLK2):c.1529C>T (p.Ser510Leu)	MYLK2 (S510L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3362513	NM_033118.4(MYLK2):c.1198A>G (p.Met400Val)	MYLK2 (M400V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 3361954	NM_033118.4(MYLK2):c.1159G>T (p.Val387Phe)	MYLK2 (V387F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248298	NC_000020.10:g.(?_30407384)_(30421600_?)dup	MYLK2	Duplication	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 2428674	NM_033118.4(MYLK2):c.1066G>A (p.Val356Ile)	MYLK2 (V356I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 930530	NM_033118.4(MYLK2):c.1402A>G (p.Met468Val)	MYLK2 (M468V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance
Select item 811093	NM_033118.4(MYLK2):c.1083-5C>T	MYLK2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1	GLikely benign

ClinVar