"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MYL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 840366	NM_000432.4(MYL2):c.413T>A (p.Met138Lys)	MYL2 (M138K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 43475	NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	MYL2 (E134A)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 409235	NM_000432.4(MYL2):c.380C>T (p.Ala127Val)	MYL2 (A127V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 928166	NM_000432.4(MYL2):c.188del (p.Asn63fs)	MYL2 (N63fs)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 31766	NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	MYL2 (N47K)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 181424	NM_000432.4(MYL2):c.49G>A (p.Val17Met)	MYL2, LOC114827850 (V17M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +5 more	GUncertain significance

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