"Ambry Genetics"[submitter] AND "OAZ3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2456551	NM_031420.4(MRPL9):c.271A>G (p.Lys91Glu)	MRPL9, OAZ3 (K91E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2372752	NM_031420.4(MRPL9):c.265C>T (p.Arg89Trp)	MRPL9, OAZ3 (R89W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2589848	NM_031420.4(MRPL9):c.261G>C (p.Lys87Asn)	MRPL9, OAZ3 (K87N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3296065	NM_031420.4(MRPL9):c.247G>C (p.Val83Leu)	MRPL9, OAZ3 (V83L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2254441	NM_031420.4(MRPL9):c.233G>C (p.Arg78Pro)	MRPL9, OAZ3 (R78P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2465337	NM_031420.4(MRPL9):c.223C>T (p.Arg75Trp)	MRPL9, OAZ3 (R75W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208473	NM_031420.4(MRPL9):c.214C>T (p.Arg72Cys)	MRPL9, OAZ3 (R72C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3296063	NM_031420.4(MRPL9):c.182A>T (p.Lys61Met)	MRPL9, OAZ3 (K61M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2292080	NM_031420.4(MRPL9):c.139C>T (p.Leu47Phe)	LOC129931444, MRPL9 +1 more (L47F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510929	NM_031420.4(MRPL9):c.137G>A (p.Ser46Asn)	LOC129931444, MRPL9 +1 more (S46N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208515	NM_031420.4(MRPL9):c.77T>G (p.Val26Gly)	LOC129931444, MRPL9 +1 more (V26G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519631	NM_031420.4(MRPL9):c.68G>A (p.Arg23Gln)	LOC129931444, MRPL9 +1 more (R23Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296066	NM_031420.4(MRPL9):c.37C>G (p.Leu13Val)	LOC129931444, MRPL9 +1 more (L13V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208467	NM_031420.4(MRPL9):c.20C>G (p.Thr7Arg)	LOC129931444, MRPL9 +1 more (T7R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance