Related gene-specific medical variations for Gene (Select 390064) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303031	NM_001004754.3(OR51I2):c.340A>G (p.Ile114Val)	OR51B5, OR51I2 (I114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303030	NM_001004754.3(OR51I2):c.365G>A (p.Arg122His)	OR51B5, OR51I2 (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205838	NM_001004754.3(OR51I2):c.97G>A (p.Val33Met)	OR51B5, OR51I2 (V33M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205837	NM_001004754.3(OR51I2):c.856G>C (p.Val286Leu)	OR51B5, OR51I2 (V286L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205836	NM_001004754.3(OR51I2):c.613T>C (p.Ser205Pro)	OR51B5, OR51I2 (S205P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205835	NM_001004754.3(OR51I2):c.472C>A (p.Pro158Thr)	OR51B5, OR51I2 (P158T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205834	NM_001004754.3(OR51I2):c.385C>G (p.Pro129Ala)	OR51B5, OR51I2 (P129A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205833	NM_001004754.3(OR51I2):c.106G>A (p.Ala36Thr)	OR51B5, OR51I2 (A36T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612903	NM_001004754.3(OR51I2):c.202T>C (p.Phe68Leu)	OR51B5, OR51I2 (F68L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599483	NM_001004754.3(OR51I2):c.803T>C (p.Val268Ala)	OR51B5, OR51I2 (V268A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596484	NM_001004754.3(OR51I2):c.902G>A (p.Arg301Gln)	OR51B5, OR51I2 (R301Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2559234	NM_001004754.3(OR51I2):c.781G>A (p.Val261Met)	OR51B5, OR51I2 (V261M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545909	NM_001004754.3(OR51I2):c.430A>G (p.Met144Val)	OR51B5, OR51I2 (M144V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535892	NM_001004754.3(OR51I2):c.72C>G (p.His24Gln)	OR51B5, OR51I2 (H24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471788	NM_001004754.3(OR51I2):c.668G>A (p.Arg223His)	OR51B5, OR51I2 (R223H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396785	NM_001004754.3(OR51I2):c.775T>C (p.Ser259Pro)	OR51B5, OR51I2 (S259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394896	NM_001004754.3(OR51I2):c.391C>T (p.Arg131Cys)	OR51B5, OR51I2 (R131C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394664	NM_001004754.3(OR51I2):c.152T>C (p.Val51Ala)	OR51B5, OR51I2 (V51A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384982	NM_001004754.3(OR51I2):c.913C>T (p.Arg305Cys)	OR51B5, OR51I2 (R305C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382446	NM_001004754.3(OR51I2):c.422T>C (p.Ile141Thr)	OR51B5, OR51I2 (I141T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365000	NM_001004754.3(OR51I2):c.532T>C (p.Tyr178His)	OR51B5, OR51I2 (Y178H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324787	NM_001004754.3(OR51I2):c.551T>C (p.Met184Thr)	OR51B5, OR51I2 (M184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322757	NM_001004754.3(OR51I2):c.86G>C (p.Gly29Ala)	OR51B5, OR51I2 (G29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287988	NM_001004754.3(OR51I2):c.742G>A (p.Val248Ile)	OR51B5, OR51I2 (V248I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254533	NM_001004754.3(OR51I2):c.160A>G (p.Ser54Gly)	OR51B5, OR51I2 (S54G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218209	NM_001004754.3(OR51I2):c.700C>T (p.Arg234Cys)	OR51B5, OR51I2 (R234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1289823	NM_001004754.3(OR51I2):c.176T>C (p.Met59Thr)	OR51B5, OR51I2 (M59T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Links from Gene

Items: 27