"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYH2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445951	NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr)	LOC126862500, MYH2 +1 more (A1708T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 534349	NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr)	LOC126862500, MYH2 +1 more (S1516T)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia	GUncertain significance
Select item 534363	NM_017534.6(MYH2):c.3582A>G (p.Thr1194=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GBenign/Likely benign
Select item 196035	NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 285372	NM_017534.6(MYH2):c.2967A>G (p.Ala989=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GBenign/Likely benign
Select item 195517	NM_017534.6(MYH2):c.2304+7T>G	MYH2, MYHAS	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GBenign/Likely benign
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 194975	NM_017534.6(MYH2):c.2106C>T (p.Asn702=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign