ClinVar for Gene (Select 282763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303038	NM_001004757.2(OR51Q1):c.649G>C (p.Val217Leu)	OR51B5, OR51Q1 (V217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303037	NM_001004757.2(OR51Q1):c.868A>T (p.Asn290Tyr)	OR51B5, OR51Q1 (N290Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303036	NM_001004757.2(OR51Q1):c.360G>C (p.Met120Ile)	OR51B5, OR51Q1 (M120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303035	NM_001004757.2(OR51Q1):c.536C>G (p.Ser179Cys)	OR51B5, OR51Q1 (S179C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303034	NM_001004756.3(OR51M1):c.929A>G (p.Glu310Gly)	OR51B5, OR51M1 (E310G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303033	NM_001004756.3(OR51M1):c.818T>G (p.Val273Gly)	OR51B5, OR51M1 (V273G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303032	NM_001004756.3(OR51M1):c.380T>G (p.Leu127Arg)	OR51B5, OR51M1 (L127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3303029	NM_001005288.3(OR51I1):c.336G>A (p.Met112Ile)	OR51B5, OR51I1 (M112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303028	NM_001005288.3(OR51I1):c.613A>G (p.Ile205Val)	OR51B5, OR51I1 (I205V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303027	NM_001005288.3(OR51I1):c.604C>G (p.Leu202Val)	OR51B5, OR51I1 (L202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303026	NM_001005288.3(OR51I1):c.284C>G (p.Ala95Gly)	OR51B5, OR51I1 (A95G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3302997	NM_001004750.1(OR51B6):c.328T>C (p.Ser110Pro)	OR51B5, OR51B6 (S110P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302996	NM_001004750.1(OR51B6):c.380C>A (p.Pro127His)	OR51B5, OR51B6 (P127H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302995	NM_001004750.1(OR51B6):c.359G>A (p.Cys120Tyr)	OR51B5, OR51B6 (C120Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302994	NM_001004750.1(OR51B6):c.348G>A (p.Met116Ile)	OR51B5, OR51B6 (M116I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302993	NM_001395252.1(OR51B5):c.376A>T (p.Asn126Tyr)	OR51B5 (N126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302992	NM_001395252.1(OR51B5):c.266A>C (p.Glu89Ala)	OR51B5 (E89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302991	NM_001395252.1(OR51B5):c.264G>T (p.Arg88Ser)	OR51B5 (R88S)	Single nucleotide variant (missense variant)	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
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 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 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 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 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 3205855	NM_001004757.2(OR51Q1):c.707G>A (p.Arg236Gln)	OR51B5, OR51Q1 (R236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205853	NM_001004757.2(OR51Q1):c.32G>A (p.Gly11Asp)	OR51B5, OR51Q1 (G11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205852	NM_001004757.2(OR51Q1):c.329C>T (p.Ser110Phe)	OR51B5, OR51Q1 (S110F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205851	NM_001004757.2(OR51Q1):c.308T>A (p.Phe103Tyr)	OR51B5, OR51Q1 (F103Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205850	NM_001004757.2(OR51Q1):c.212C>T (p.Thr71Met)	OR51B5, OR51Q1 (T71M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205849	NM_001004757.2(OR51Q1):c.179G>A (p.Arg60His)	OR51B5, OR51Q1 (R60H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205848	NM_001004757.2(OR51Q1):c.174C>G (p.His58Gln)	OR51B5, OR51Q1 (H58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205847	NM_001004756.3(OR51M1):c.940G>A (p.Ala314Thr)	OR51B5, OR51M1 (A314T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205845	NM_001004756.3(OR51M1):c.686C>T (p.Ser229Phe)	OR51B5, OR51M1 (S229F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205844	NM_001004756.3(OR51M1):c.458T>A (p.Val153Glu)	OR51B5, OR51M1 (V153E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205843	NM_001004756.3(OR51M1):c.259G>A (p.Val87Met)	OR51B5, OR51M1 (V87M)	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 3205832	NM_001005288.3(OR51I1):c.881A>G (p.Tyr294Cys)	OR51B5, OR51I1 (Y294C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205831	NM_001005288.3(OR51I1):c.685G>T (p.Val229Phe)	OR51B5, OR51I1 (V229F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205830	NM_001005288.3(OR51I1):c.670C>A (p.Leu224Met)	OR51B5, OR51I1 (L224M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205829	NM_001005288.3(OR51I1):c.539A>C (p.Tyr180Ser)	OR51B5, OR51I1 (Y180S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205828	NM_001005288.3(OR51I1):c.500G>A (p.Arg167Gln)	OR51B5, OR51I1 (R167Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205826	NM_001005288.3(OR51I1):c.205G>A (p.Ala69Thr)	OR51B5, OR51I1 (A69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205825	NM_001005288.3(OR51I1):c.163C>T (p.Pro55Ser)	OR51B5, OR51I1 (P55S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205824	NM_001005288.3(OR51I1):c.149T>C (p.Leu50Pro)	OR51B5, OR51I1 (L50P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205777	NM_001004750.1(OR51B6):c.845C>A (p.Pro282Gln)	OR51B6, OR51B5 (P282Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205776	NM_001004750.1(OR51B6):c.695G>T (p.Arg232Met)	OR51B5, OR51B6 (R232M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205774	NM_001004750.1(OR51B6):c.556G>T (p.Ala186Ser)	OR51B5, OR51B6 (A186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205773	NM_001004750.1(OR51B6):c.482T>A (p.Leu161Gln)	OR51B5, OR51B6 (L161Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205772	NM_001395252.1(OR51B5):c.904C>G (p.Leu302Val)	OR51B5 (L302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205771	NM_001395252.1(OR51B5):c.332G>C (p.Gly111Ala)	OR51B5 (G111A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205770	NM_001395252.1(OR51B5):c.227T>C (p.Met76Thr)	OR51B5 (M76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205769	NM_001395252.1(OR51B5):c.214G>T (p.Ala72Ser)	OR51B5 (A72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641540	NM_001005163.2(OR52D1):c.776TCT[1] (p.Phe260del)	OR52D1, OR51B5 (F260del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2641539	NM_001005567.3(OR51B5):c.-359-55947T>A	OR51J1, OR51B5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641538	NM_001005567.3(OR51B5):c.-359-55753G>A	OR51B5, OR51J1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2623660	NM_001395252.1(OR51B5):c.284G>T (p.Cys95Phe)	OR51B5 (C95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2623477	NM_001004750.1(OR51B6):c.167C>T (p.Pro56Leu)	OR51B5, OR51B6 (P56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620377	NM_001395252.1(OR51B5):c.416T>G (p.Val139Gly)	OR51B5 (V139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614431	NM_001004756.3(OR51M1):c.881T>C (p.Phe294Ser)	OR51B5, OR51M1 (F294S)	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 2609938	NM_001004750.1(OR51B6):c.455T>G (p.Leu152Arg)	OR51B5, OR51B6 (L152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600170	NM_001395252.1(OR51B5):c.556G>A (p.Ala186Thr)	OR51B5 (A186T)	Single nucleotide variant (missense variant)	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 2599373	NM_001005288.3(OR51I1):c.706C>T (p.Arg236Trp)	OR51B5, OR51I1 (R236W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2592289	NM_001395252.1(OR51B5):c.829G>A (p.Ala277Thr)	OR51B5 (A277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	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 2558465	NM_001004750.1(OR51B6):c.472G>T (p.Val158Phe)	OR51B5, OR51B6 (V158F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555277	NM_001005288.3(OR51I1):c.542G>A (p.Cys181Tyr)	OR51B5, OR51I1 (C181Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550609	NM_001005288.3(OR51I1):c.542G>C (p.Cys181Ser)	OR51B5, OR51I1 (C181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546709	NM_001004757.2(OR51Q1):c.407C>G (p.Ser136Cys)	OR51B5, OR51Q1 (S136C)	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 2544409	NM_001395252.1(OR51B5):c.317C>G (p.Ser106Cys)	OR51B5 (S106C)	Single nucleotide variant (missense variant)	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 2526181	NM_001004756.3(OR51M1):c.161A>T (p.Asn54Ile)	OR51B5, OR51M1 (N54I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519756	NM_001004750.1(OR51B6):c.934G>C (p.Ala312Pro)	OR51B5, OR51B6 (A312P)	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 2518275	NM_001395252.1(OR51B5):c.680C>T (p.Ala227Val)	OR51B5 (A227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516061	NM_001004757.2(OR51Q1):c.817C>G (p.Leu273Val)	OR51B5, OR51Q1 (L273V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514853	NM_001004757.2(OR51Q1):c.577G>A (p.Asp193Asn)	OR51B5, OR51Q1 (D193N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509780	NM_001004756.3(OR51M1):c.804G>A (p.Met268Ile)	OR51B5, OR51M1 (M268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2486811	NM_001004750.1(OR51B6):c.45C>A (p.Phe15Leu)	OR51B5, OR51B6 (F15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485409	NM_001395252.1(OR51B5):c.301T>C (p.Phe101Leu)	OR51B5 (F101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482288	NM_001004756.3(OR51M1):c.658A>T (p.Met220Leu)	OR51B5, OR51M1 (M220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476237	NM_001005288.3(OR51I1):c.251T>G (p.Ile84Ser)	OR51B5, OR51I1 (I84S)	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 2471146	NM_001395252.1(OR51B5):c.478C>T (p.Pro160Ser)	OR51B5 (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467779	NM_001005288.3(OR51I1):c.398G>A (p.Arg133His)	OR51B5, OR51I1 (R133H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465678	NM_001004756.3(OR51M1):c.845C>A (p.Pro282His)	OR51B5, OR51M1 (P282H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464367	NM_001395252.1(OR51B5):c.204C>G (p.Asp68Glu)	OR51B5 (D68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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