"Athena Diagnostics"[submitter] AND "MYH2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256270	NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg)	LOC126862500, MYH2 +1 more (Q1710R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805069	NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys)	MYH2, MYHAS (R1181C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 195897	NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)	MYH2, MYHAS (L1061V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 995142	NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser)	MYHAS, MYH2 (N682S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586161	NM_017534.6(MYH2):c.1275del (p.Asn425fs)	MYH2, MYHAS (N425fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 465923	NM_017534.6(MYH2):c.183G>A (p.Thr61=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign

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