"GeneDx"[submitter] AND "LOC126862501"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 704911	NM_017534.6(MYH2):c.834C>T (p.Phe278=)	LOC126862501, MYH2 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1312774	NM_017534.6(MYH2):c.760C>A (p.His254Asn)	LOC126862501, MYH2 +1 more (H254N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260828	NM_017534.6(MYH2):c.742-30A>C	MYHAS, LOC126862501 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1295691	NM_017534.6(MYH2):c.742-240T>G	LOC126862501, MYH2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230140	NM_017534.6(MYH2):c.742-257A>C	LOC126862501, MYH2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208018	NM_017534.6(MYH2):c.741+23T>C	MYHAS, LOC126862501 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148044	NM_017534.6(MYH2):c.715G>A (p.Val239Met)	LOC126862501, MYH2 +1 more (V239M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 465951	NM_017534.6(MYH2):c.687A>G (p.Leu229=)	LOC126862501, MYH2 +1 more	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign

ClinVar