"Blueprint Genetics"[submitter] AND "MYL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177824	NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)	MYL2 (P143L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +4 more	GUncertain significance
Select item 43473	NM_000432.4(MYL2):c.374C>T (p.Thr125Met)	MYL2 (T125M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +5 more	GUncertain significance
Select item 222735	NM_000432.4(MYL2):c.262G>A (p.Glu88Lys)	MYL2 (E88K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GUncertain significance
Select item 155818	NM_000432.4(MYL2):c.239C>A (p.Thr80Asn)	MYL2 (T80N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10 +1 more	GPathogenic/Likely pathogenic
Select item 14067	NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)	MYL2 (R58Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GPathogenic
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 14065	NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	MYL2, LOC114827850 (E22K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic

ClinVar