"Ambry Genetics"[submitter] AND "OR51I1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2263153	NM_001005288.3(OR51I1):c.905G>A (p.Arg302His)	OR51B5, OR51I1 (R302H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316758	NM_001005288.3(OR51I1):c.811C>G (p.Pro271Ala)	OR51B5, OR51I1 (P271A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462518	NM_001005288.3(OR51I1):c.767C>T (p.Pro256Leu)	OR51B5, OR51I1 (P256L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373033	NM_001005288.3(OR51I1):c.707G>A (p.Arg236Gln)	OR51B5, OR51I1 (R236Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599373	NM_001005288.3(OR51I1):c.706C>T (p.Arg236Trp)	OR51B5, OR51I1 (R236W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257068	NM_001005288.3(OR51I1):c.690C>G (p.Ile230Met)	OR51B5, OR51I1 (I230M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555277	NM_001005288.3(OR51I1):c.542G>A (p.Cys181Tyr)	OR51B5, OR51I1 (C181Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550609	NM_001005288.3(OR51I1):c.542G>C (p.Cys181Ser)	OR51B5, OR51I1 (C181S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320436	NM_001005288.3(OR51I1):c.533A>T (p.His178Leu)	OR51B5, OR51I1 (H178L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456679	NM_001005288.3(OR51I1):c.467C>T (p.Thr156Ile)	OR51B5, OR51I1 (T156I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2344131	NM_001005288.3(OR51I1):c.425G>A (p.Arg142His)	OR51B5, OR51I1 (R142H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261535	NM_001005288.3(OR51I1):c.412C>G (p.Leu138Val)	OR51B5, OR51I1 (L138V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467779	NM_001005288.3(OR51I1):c.398G>A (p.Arg133His)	OR51B5, OR51I1 (R133H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2212641	NM_001005288.3(OR51I1):c.301G>A (p.Val101Ile)	OR51B5, OR51I1 (V101I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476237	NM_001005288.3(OR51I1):c.251T>G (p.Ile84Ser)	OR51B5, OR51I1 (I84S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance