"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MYHAS"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 465942	NM_017534.6(MYH2):c.4583G>A (p.Arg1528His)	LOC126862500, MYH2 +1 more (R1528H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 534352	NM_017534.6(MYH2):c.4213G>T (p.Ala1405Ser)	MYH2, MYHAS (A1405S)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 658428	NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)	MYH2, MYHAS (R1295H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 534342	NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp)	MYH2, MYHAS (R1274W)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 1163412	NM_017534.6(MYH2):c.3361A>C (p.Ile1121Leu)	MYH2, MYHAS (I1121L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195898	NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)	MYH2, MYHAS (S1043A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 566418	NM_017534.6(MYH2):c.3029A>G (p.Gln1010Arg)	MYH2, MYHAS (Q1010R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225415	NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)	MYH2, MYHAS (V805A)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 291167	NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)	MYH2, MYHAS (I757T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 1162810	NM_017534.6(MYH2):c.1756G>A (p.Ala586Thr)	MYH2, MYHAS (A586T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance