ClinVar for Gene (Select 390064) - ClinVar

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Items: 50

	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 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 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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 1809171	GRCh37/hg19 11p15.4(chr11:5439244-5570043)x1	OR51I1, OR51I2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1809092	GRCh37/hg19 11p15.4(chr11:5361272-5660023)x1	OR51B5, OR51B6 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1807597	GRCh37/hg19 11p15.4(chr11:5279153-5619949)x3	HBE1, OR51B2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340453	GRCh37/hg19 11p15.4(chr11:5373646-5519671)x1	OR51B6, OR51I1 +4 more	Copy number loss	not provided	GLikely benign
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
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
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 549635	NC_000011.10:g.5433500_5475233dup	OR51B5, OR51I1 +1 more	Duplication	Primary amenorrhea	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441831	GRCh37/hg19 11p15.4(chr11:5361271-5616544)x1	OR51B5, OR51B6 +9 more	Copy number loss	See cases	GUncertain significance
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50