"Revvity Omics, Revvity"[submitter] AND "LOC126862501"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433885	NM_017534.6(MYH2):c.824G>T (p.Arg275Ile)	LOC126862501, MYH2 +1 more (R275I)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 662613	NM_017534.6(MYH2):c.772A>G (p.Thr258Ala)	LOC126862501, MYH2 +1 more (T258A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 2433878	NM_017534.6(MYH2):c.736C>T (p.Arg246Cys)	LOC126862501, MYH2 +1 more (R246C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 580104	NM_017534.6(MYH2):c.731C>T (p.Ser244Phe)	LOC126862501, MYH2 +1 more (S244F)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1981011	NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)	LOC126862501, MYH2 +1 more (K237R)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 1457602	NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)	MYH2, MYHAS +1 more (R170*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia	GConflicting classifications of pathogenicity

ClinVar