OR51Q1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2216569	NM_001004757.2(OR51Q1):c.29A>G (p.Glu10Gly)	OR51B5, OR51Q1 (E10G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216570	NM_001004757.2(OR51Q1):c.30A>C (p.Glu10Asp)	OR51B5, OR51Q1 (E10D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2253381	NM_001004757.2(OR51Q1):c.50C>T (p.Thr17Met)	OR51B5, OR51Q1 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312423	NM_001004757.2(OR51Q1):c.97G>A (p.Val33Ile)	OR51B5, OR51Q1 (V33I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338107	NM_001004757.2(OR51Q1):c.149T>C (p.Val50Ala)	OR51B5, OR51Q1 (V50A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273295	NM_001004757.2(OR51Q1):c.155G>C (p.Arg52Pro)	OR51B5, OR51Q1 (R52P)	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 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 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 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 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 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 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 2282473	NM_001004757.2(OR51Q1):c.454T>C (p.Cys152Arg)	OR51B5, OR51Q1 (C152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220008	NM_001004757.2(OR51Q1):c.458G>T (p.Cys153Phe)	OR51B5, OR51Q1 (C153F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220223	NM_001004757.2(OR51Q1):c.514C>T (p.His172Tyr)	OR51B5, OR51Q1 (H172Y)	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 2385518	NM_001004757.2(OR51Q1):c.563G>C (p.Arg188Pro)	OR51B5, OR51Q1 (R188P)	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 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 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 2321945	NM_001004757.2(OR51Q1):c.709C>T (p.Leu237Phe)	OR51B5, OR51Q1 (L237F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279703	NM_001004757.2(OR51Q1):c.773T>C (p.Val258Ala)	OR51B5, OR51Q1 (V258A)	Single nucleotide variant (missense variant +1 more)	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 2346485	NM_001004757.2(OR51Q1):c.839A>G (p.Asn280Ser)	OR51B5, OR51Q1 (N280S)	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 2358182	NM_001004757.2(OR51Q1):c.916T>G (p.Leu306Val)	OR51B5, OR51Q1 (L306V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298722	NM_001004757.2(OR51Q1):c.938A>G (p.Asn313Ser)	OR51B5, OR51Q1 (N313S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384236	NM_001004757.2(OR51Q1):c.949A>G (p.Arg317Gly)	OR51B5, OR51Q1 (R317G)	Single nucleotide variant (missense variant +1 more)	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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 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 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

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Items: 52