"Ambry Genetics"[submitter] AND "OR51Q1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2216569	NM_001004757.2(OR51Q1):c.29A>G (p.Glu10Gly)	OR51B5, OR51Q1 (E10G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216570	NM_001004757.2(OR51Q1):c.30A>C (p.Glu10Asp)	OR51B5, OR51Q1 (E10D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2253381	NM_001004757.2(OR51Q1):c.50C>T (p.Thr17Met)	OR51B5, OR51Q1 (T17M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312423	NM_001004757.2(OR51Q1):c.97G>A (p.Val33Ile)	OR51B5, OR51Q1 (V33I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338107	NM_001004757.2(OR51Q1):c.149T>C (p.Val50Ala)	OR51B5, OR51Q1 (V50A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273295	NM_001004757.2(OR51Q1):c.155G>C (p.Arg52Pro)	OR51B5, OR51Q1 (R52P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546709	NM_001004757.2(OR51Q1):c.407C>G (p.Ser136Cys)	OR51B5, OR51Q1 (S136C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282473	NM_001004757.2(OR51Q1):c.454T>C (p.Cys152Arg)	OR51B5, OR51Q1 (C152R)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220008	NM_001004757.2(OR51Q1):c.458G>T (p.Cys153Phe)	OR51B5, OR51Q1 (C153F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220223	NM_001004757.2(OR51Q1):c.514C>T (p.His172Tyr)	OR51B5, OR51Q1 (H172Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385518	NM_001004757.2(OR51Q1):c.563G>C (p.Arg188Pro)	OR51B5, OR51Q1 (R188P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514853	NM_001004757.2(OR51Q1):c.577G>A (p.Asp193Asn)	OR51B5, OR51Q1 (D193N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321945	NM_001004757.2(OR51Q1):c.709C>T (p.Leu237Phe)	OR51B5, OR51Q1 (L237F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279703	NM_001004757.2(OR51Q1):c.773T>C (p.Val258Ala)	OR51B5, OR51Q1 (V258A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516061	NM_001004757.2(OR51Q1):c.817C>G (p.Leu273Val)	OR51B5, OR51Q1 (L273V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346485	NM_001004757.2(OR51Q1):c.839A>G (p.Asn280Ser)	OR51B5, OR51Q1 (N280S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358182	NM_001004757.2(OR51Q1):c.916T>G (p.Leu306Val)	OR51B5, OR51Q1 (L306V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298722	NM_001004757.2(OR51Q1):c.938A>G (p.Asn313Ser)	OR51B5, OR51Q1 (N313S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384236	NM_001004757.2(OR51Q1):c.949A>G (p.Arg317Gly)	OR51B5, OR51Q1 (R317G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance