"Ambry Genetics"[submitter] AND "OR52D1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623612	NM_001005163.2(OR52D1):c.221T>C (p.Leu74Pro)	OR51B5, OR52D1 (L74P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462280	NM_001005163.2(OR52D1):c.282G>T (p.Glu94Asp)	OR51B5, OR52D1 (E94D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205921	NM_001005163.2(OR52D1):c.302T>C (p.Leu101Pro)	OR51B5, OR52D1 (L101P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403721	NM_001005163.2(OR52D1):c.317G>A (p.Cys106Tyr)	OR51B5, OR52D1 (C106Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333810	NM_001005163.2(OR52D1):c.421C>T (p.His141Tyr)	OR51B5, OR52D1 (H141Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519523	NM_001005163.2(OR52D1):c.482C>T (p.Pro161Leu)	OR51B5, OR52D1 (P161L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205922	NM_001005163.2(OR52D1):c.503G>A (p.Arg168Gln)	OR51B5, OR52D1 (R168Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2241114	NM_001005163.2(OR52D1):c.523C>T (p.Arg175Cys)	OR51B5, OR52D1 (R175C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284789	NM_001005163.2(OR52D1):c.539C>A (p.Thr180Lys)	OR51B5, OR52D1 (T180K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397169	NM_001005163.2(OR52D1):c.541T>A (p.Tyr181Asn)	OR51B5, OR52D1 (Y181N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205923	NM_001005163.2(OR52D1):c.547G>A (p.Glu183Lys)	OR51B5, OR52D1 (E183K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340590	NM_001005163.2(OR52D1):c.584T>G (p.Ile195Ser)	OR51B5, OR52D1 (I195S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359973	NM_001005163.2(OR52D1):c.625G>T (p.Ala209Ser)	OR51B5, OR52D1 (A209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205924	NM_001005163.2(OR52D1):c.689A>G (p.His230Arg)	OR51B5, OR52D1 (H230R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205926	NM_001005163.2(OR52D1):c.762C>G (p.Phe254Leu)	OR51B5, OR52D1 (F254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348191	NM_001005163.2(OR52D1):c.811G>A (p.Glu271Lys)	OR51B5, OR52D1 (E271K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205927	NM_001005163.2(OR52D1):c.812A>C (p.Glu271Ala)	OR51B5, OR52D1 (E271A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance