"Baylor Genetics"[submitter] AND "LOC126862500"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441866	NM_017534.6(MYH2):c.4639C>T (p.Gln1547Ter)	LOC126862500, MYH2 +1 more (Q1547*)	Single nucleotide variant (nonsense)	Myopathy, proximal, and ophthalmoplegia	GLikely pathogenic
Select item 1029470	NM_017534.6(MYH2):c.4537+1G>A	LOC126862500, MYH2 +1 more	Single nucleotide variant (splice donor variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GPathogenic/Likely pathogenic