"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126862500"[gen - ClinVar

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	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