"Ambry Genetics"[submitter] AND "OR1N2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2559818	NM_001004457.2(OR1N2):c.76G>A (p.Glu26Lys)	OR1J2, OR1L8 +1 more (E26K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250016	NM_001004457.2(OR1N2):c.169C>T (p.His57Tyr)	OR1J2, OR1L8 +1 more (H57Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274270	NM_001004457.2(OR1N2):c.250A>T (p.Met84Leu)	OR1N2, OR1L8 +1 more (M84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603117	NM_001004457.2(OR1N2):c.287C>T (p.Ser96Leu)	OR1J2, OR1L8 +1 more (S96L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297015	NM_001004457.2(OR1N2):c.368A>G (p.Tyr123Cys)	OR1J2, OR1L8 +1 more (Y123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590759	NM_001004457.2(OR1N2):c.503G>A (p.Arg168His)	OR1L8, OR1N2 +1 more (R168H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401339	NM_001004457.2(OR1N2):c.505G>A (p.Val169Met)	OR1L8, OR1J2 +1 more (V169M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595898	NM_001004457.2(OR1N2):c.516T>G (p.Cys172Trp)	OR1J2, OR1L8 +1 more (C172W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314681	NM_001004457.2(OR1N2):c.536A>G (p.His179Arg)	OR1N2, OR1J2 +1 more (H179R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482708	NM_001004457.2(OR1N2):c.541T>C (p.Tyr181His)	OR1J2, OR1L8 +1 more (Y181H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541154	NM_001004457.2(OR1N2):c.542A>C (p.Tyr181Ser)	OR1J2, OR1L8 +1 more (Y181S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383364	NM_001004457.2(OR1N2):c.566A>G (p.Lys189Arg)	OR1N2, OR1L8 +1 more (K189R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388756	NM_001004457.2(OR1N2):c.569T>C (p.Leu190Pro)	OR1L8, OR1J2 +1 more (L190P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481317	NM_001004457.2(OR1N2):c.725C>A (p.Ser242Tyr)	OR1J2, OR1L8 +1 more (S242Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212165	NM_001004457.2(OR1N2):c.862C>G (p.Leu288Val)	OR1N2, OR1J2 +1 more (L288V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance