"Ambry Genetics"[submitter] AND "OR2AK2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2207462	NM_001004491.2(OR2AK2):c.-38T>C	OR2AK2, OR2L13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377223	NM_001004491.2(OR2AK2):c.-26T>C	OR2AK2, OR2L13	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3205043	NM_001004491.2(OR2AK2):c.20G>A (p.Ser7Asn)	OR2AK2, OR2L13 (S7N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264362	NM_001004491.2(OR2AK2):c.97A>C (p.Thr33Pro)	OR2AK2, OR2L13 (T33P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520488	NM_001004491.2(OR2AK2):c.172C>T (p.Pro58Ser)	OR2AK2, OR2L13 (P58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205038	NM_001004491.2(OR2AK2):c.202A>G (p.Ile68Val)	OR2AK2, OR2L13 (I68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616708	NM_001004491.2(OR2AK2):c.220A>G (p.Ile74Val)	OR2AK2, OR2L13 (I74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205039	NM_001004491.2(OR2AK2):c.256C>T (p.Leu86Phe)	OR2AK2, OR2L13 (L86F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311711	NM_001004491.2(OR2AK2):c.296T>C (p.Ile99Thr)	OR2AK2, OR2L13 (I99T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205040	NM_001004491.2(OR2AK2):c.353T>G (p.Met118Arg)	OR2AK2, OR2L13 (M118R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205041	NM_001004491.2(OR2AK2):c.359A>G (p.Tyr120Cys)	OR2AK2, OR2L13 (Y120C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230194	NM_001004491.2(OR2AK2):c.368A>G (p.Tyr123Cys)	OR2AK2, OR2L13 (Y123C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540823	NM_001004491.2(OR2AK2):c.383A>G (p.His128Arg)	OR2AK2, OR2L13 (H128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221019	NM_001004491.2(OR2AK2):c.402G>A (p.Met134Ile)	OR2AK2, OR2L13 (M134I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205042	NM_001004491.2(OR2AK2):c.437C>T (p.Ala146Val)	OR2AK2, OR2L13 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232430	NM_001004491.2(OR2AK2):c.574A>T (p.Thr192Ser)	OR2AK2, OR2L13 (T192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493022	NM_001004491.2(OR2AK2):c.638C>G (p.Ala213Gly)	OR2AK2, OR2L13 (A213G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570295	NM_001004491.2(OR2AK2):c.658C>T (p.Arg220Cys)	OR2AK2, OR2L13 (R220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205044	NM_001004491.2(OR2AK2):c.659G>A (p.Arg220His)	OR2AK2, OR2L13 (R220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540594	NM_001004491.2(OR2AK2):c.700C>A (p.Gln234Lys)	OR2AK2, OR2L13 (Q234K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205045	NM_001004491.2(OR2AK2):c.701A>C (p.Gln234Pro)	OR2AK2, OR2L13 (Q234P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272158	NM_001004491.2(OR2AK2):c.761C>T (p.Thr254Ile)	OR2AK2, OR2L13 (T254I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353525	NM_001004491.2(OR2AK2):c.809G>A (p.Arg270Gln)	OR2AK2, OR2L13 (R270Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205046	NM_001004491.2(OR2AK2):c.839T>C (p.Ile280Thr)	OR2AK2, OR2L13 (I280T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272680	NM_001004491.2(OR2AK2):c.893C>T (p.Thr298Met)	OR2AK2, OR2L13 (T298M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205048	NM_001004491.2(OR2AK2):c.953C>T (p.Ser318Phe)	OR2AK2, OR2L13 (S318F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 26