"Ambry Genetics"[submitter] AND "MRPS9-AS1"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2380458	NM_182640.3(MRPS9):c.982G>A (p.Val328Met)	MRPS9-AS1, MRPS9 (V328M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396963	NM_182640.3(MRPS9):c.1078G>A (p.Glu360Lys)	MRPS9, MRPS9-AS1 (E360K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530406	NM_182640.3(MRPS9):c.1175C>T (p.Thr392Met)	MRPS9, MRPS9-AS1 (T392M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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