"Ambry Genetics"[submitter] AND "OR52R1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2349867	NM_001005177.3(OR52R1):c.907G>A (p.Gly303Arg)	MMP26, OR52R1 (G303R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534077	NM_001005177.3(OR52R1):c.881T>A (p.Ile294Asn)	MMP26, OR52R1 (I294N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206033	NM_001005177.3(OR52R1):c.874C>T (p.Pro292Ser)	MMP26, OR52R1 (P292S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206032	NM_001005177.3(OR52R1):c.845T>C (p.Leu282Pro)	MMP26, OR52R1 (L282P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303121	NM_001005177.3(OR52R1):c.833T>C (p.Leu278Pro)	MMP26, OR52R1 (L278P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556428	NM_001005177.3(OR52R1):c.808G>A (p.Asp270Asn)	MMP26, OR52R1 (D270N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520567	NM_001005177.3(OR52R1):c.796C>T (p.Arg266Cys)	MMP26, OR52R1 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206031	NM_001005177.3(OR52R1):c.760C>T (p.Leu254Phe)	MMP26, OR52R1 (L254F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321570	NM_001005177.3(OR52R1):c.664G>A (p.Val222Met)	MMP26, OR52R1 (V222M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303118	NM_001005177.3(OR52R1):c.595C>G (p.Arg199Gly)	MMP26, OR52R1 (R199G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303119	NM_001005177.3(OR52R1):c.513C>G (p.Phe171Leu)	MMP26, OR52R1 (F171L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544217	NM_001005177.3(OR52R1):c.503G>C (p.Arg168Thr)	MMP26, OR52R1 (R168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540595	NM_001005177.3(OR52R1):c.473G>T (p.Trp158Leu)	MMP26, OR52R1 (W158L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206030	NM_001005177.3(OR52R1):c.451G>A (p.Val151Met)	MMP26, OR52R1 (V151M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206029	NM_001005177.3(OR52R1):c.368T>C (p.Leu123Pro)	MMP26, OR52R1 (L123P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303116	NM_001005177.3(OR52R1):c.364G>T (p.Ala122Ser)	MMP26, OR52R1 (A122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206027	NM_001005177.3(OR52R1):c.245C>T (p.Pro82Leu)	MMP26, OR52R1 (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556418	NM_001005177.3(OR52R1):c.226C>T (p.Leu76Phe)	MMP26, OR52R1 (L76F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562582	NM_001005177.3(OR52R1):c.185T>C (p.Met62Thr)	MMP26, OR52R1 (M62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311055	NM_001005177.3(OR52R1):c.167A>C (p.His56Pro)	MMP26, OR52R1 (H56P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303120	NM_001005177.3(OR52R1):c.128T>C (p.Val43Ala)	MMP26, OR52R1 (V43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303117	NM_001005177.3(OR52R1):c.110C>T (p.Thr37Met)	MMP26, OR52R1 (T37M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2335740	NM_001005177.3(OR52R1):c.61C>T (p.Pro21Ser)	MMP26, OR52R1 (P21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23