"Ambry Genetics"[submitter] AND "MEAF6"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2262794	NM_001270875.3(MEAF6):c.512G>A (p.Arg171Gln)	MEAF6 (R171Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297936	NM_001270875.3(MEAF6):c.410A>G (p.Gln137Arg)	MEAF6 (Q137R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622519	NM_001270875.3(MEAF6):c.212C>G (p.Ser71Cys)	MEAF6 (S71C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467374	NM_001270875.3(MEAF6):c.7A>G (p.Met3Val)	LOC129930155, MEAF6 (M3V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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