"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "LOC - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161326	NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	LOC126861898, MYH7 (R870C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 177667	NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	LOC126861898, MYH7 (R869H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 917609	NM_000257.4(MYH7):c.2499C>A (p.Tyr833Ter)	LOC126861898, MYH7 (Y833*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance

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