OR51F2[gene] - ClinVar

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Items: 61

	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 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 3205805	NM_001004753.2(OR51F2):c.-33A>G	MMP26, OR51F2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590344	NM_001004753.2(OR51F2):c.-27A>C	MMP26, OR51F2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2381363	NM_001004753.2(OR51F2):c.100T>C (p.Cys34Arg)	MMP26, OR51F2 (C34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205798	NM_001004753.2(OR51F2):c.110A>G (p.Tyr37Cys)	MMP26, OR51F2 (Y37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205799	NM_001004753.2(OR51F2):c.181A>G (p.Met61Val)	MMP26, OR51F2 (M61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205800	NM_001004753.2(OR51F2):c.183G>A (p.Met61Ile)	MMP26, OR51F2 (M61I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303013	NM_001004753.2(OR51F2):c.199A>G (p.Met67Val)	MMP26, OR51F2 (M67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588578	NM_001004753.2(OR51F2):c.275G>A (p.Arg92Gln)	MMP26, OR51F2 (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303011	NM_001004753.2(OR51F2):c.284A>G (p.Asn95Ser)	MMP26, OR51F2 (N95S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2281406	NM_001004753.2(OR51F2):c.287T>C (p.Leu96Pro)	MMP26, OR51F2 (L96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283495	NM_001004753.2(OR51F2):c.311T>C (p.Phe104Ser)	MMP26, OR51F2 (F104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303015	NM_001004753.2(OR51F2):c.313T>C (p.Phe105Leu)	MMP26, OR51F2 (F105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205801	NM_001004753.2(OR51F2):c.323G>T (p.Gly108Val)	MMP26, OR51F2 (G108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205802	NM_001004753.2(OR51F2):c.334A>G (p.Met112Val)	MMP26, OR51F2 (M112V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205803	NM_001004753.2(OR51F2):c.395T>G (p.Leu132Arg)	MMP26, OR51F2 (L132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313598	NM_001004753.2(OR51F2):c.403A>G (p.Thr135Ala)	MMP26, OR51F2 (T135A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519075	NM_001004753.2(OR51F2):c.404C>T (p.Thr135Ile)	MMP26, OR51F2 (T135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481045	NM_001004753.2(OR51F2):c.446G>A (p.Ser149Asn)	MMP26, OR51F2 (S149N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205804	NM_001004753.2(OR51F2):c.462T>G (p.Asn154Lys)	MMP26, OR51F2 (N154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558954	NM_001004753.2(OR51F2):c.469G>A (p.Val157Ile)	MMP26, OR51F2 (V157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337751	NM_001004753.2(OR51F2):c.481G>A (p.Val161Ile)	MMP26, OR51F2 (V161I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205806	NM_001004753.2(OR51F2):c.493G>T (p.Val165Phe)	MMP26, OR51F2 (V165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559694	NM_001004753.2(OR51F2):c.577G>A (p.Asp193Asn)	MMP26, OR51F2 (D193N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303012	NM_001004753.2(OR51F2):c.610G>A (p.Ala204Thr)	MMP26, OR51F2 (A204T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303010	NM_001004753.2(OR51F2):c.611C>T (p.Ala204Val)	MMP26, OR51F2 (A204V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223960	NM_001004753.2(OR51F2):c.659A>G (p.Tyr220Cys)	MMP26, OR51F2 (Y220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513409	NM_001004753.2(OR51F2):c.674G>T (p.Arg225Leu)	OR51F2, MMP26 (R225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205807	NM_001004753.2(OR51F2):c.688A>T (p.Ile230Phe)	MMP26, OR51F2 (I230F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349502	NM_001004753.2(OR51F2):c.695C>T (p.Ser232Phe)	MMP26, OR51F2 (S232F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303009	NM_001004753.2(OR51F2):c.710G>A (p.Arg237Gln)	MMP26, OR51F2 (R237Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205808	NM_001004753.2(OR51F2):c.794G>A (p.Arg265His)	MMP26, OR51F2 (R265H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2244898	NM_001004753.2(OR51F2):c.856C>A (p.Pro286Thr)	MMP26, OR51F2 (P286T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232819	NM_001004753.2(OR51F2):c.874A>G (p.Ile292Val)	MMP26, OR51F2 (I292V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303014	NM_001004753.2(OR51F2):c.875T>C (p.Ile292Thr)	MMP26, OR51F2 (I292T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347883	NM_001004753.2(OR51F2):c.899A>G (p.Gln300Arg)	MMP26, OR51F2 (Q300R)	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 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
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 1341154	GRCh37/hg19 11p15.4(chr11:4781648-4899547)x1	OR51F1, OR51F2 +2 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 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
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 443040	GRCh37/hg19 11p15.4(chr11:4642886-5200656)x3	MMP26, OR51A2 +17 more	Copy number gain	See cases	GLikely benign
Select item 442369	GRCh37/hg19 11p15.4(chr11:4634077-5208018)x3	MMP26, OR51A2 +17 more	Copy number gain	See cases	GLikely benign
Select item 442143	GRCh37/hg19 11p15.4(chr11:4364896-4926365)x3	C11orf40, OR51D1 +15 more	Copy number gain	See cases	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 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 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 253777	GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	C11orf40, OR51D1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 226252	GRCh37/hg19 11p15.4(chr11:4371631-5253127)	OR51G2, OR51L1 +28 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic

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Items: 61