"MGZ Medical Genetics Center"[submitter] AND "LOC126861897"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 1709419	NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)	LOC126861897, MHRT +1 more (E1564A)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy	GUncertain significance