"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126862 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260826	NM_017534.6(MYH2):c.5034C>T (p.Ala1678=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260825	NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)	LOC126862500, MYH2 +1 more (L1592M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 732100	NM_017534.6(MYH2):c.4770C>T (p.Asp1590=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	MYH2-related disorder +1 more	GLikely benign
Select item 576776	NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter)	LOC126862500, MYH2 +1 more (Q1513*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia +1 more	GPathogenic/Likely pathogenic
Select item 3050533	NM_017534.6(MYH2):c.4410T>C (p.His1470=)	LOC126862500, MYH2 +1 more	Single nucleotide variant (synonymous variant)	MYH2-related disorder	GLikely benign
Select item 283217	NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly)	MYH2, MYHAS +1 more (A1460G)	Single nucleotide variant (missense variant)	MYH2-related disorder +3 more	GLikely benign

ClinVar