"Ambry Genetics"[submitter] AND "MRPL22"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2263521	NM_014180.4(MRPL22):c.185G>A (p.Arg62Gln)	MRPL22 (R62Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622648	NM_014180.4(MRPL22):c.208T>C (p.Cys70Arg)	MRPL22 (C70R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495598	NM_014180.4(MRPL22):c.248A>T (p.Tyr83Phe)	MRPL22 (Y3F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394890	NM_014180.4(MRPL22):c.281A>G (p.Asp94Gly)	MRPL22 (D14G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403435	NM_014180.4(MRPL22):c.431G>A (p.Gly144Asp)	MRPL22 (G144D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228527	NM_014180.4(MRPL22):c.445C>T (p.Arg149Cys)	MRPL22 (R149C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367727	NM_014180.4(MRPL22):c.469C>T (p.Arg157Cys)	MRPL22 (R157C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369109	NM_014180.4(MRPL22):c.554C>T (p.Thr185Met)	MRPL22 (T105M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance