OR52B6[gene] - ClinVar

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Items: 46

	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 2286301	NM_001005162.2(OR52B6):c.14G>A (p.Arg5Lys)	OR52B6 (R5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270337	NM_001005162.2(OR52B6):c.26A>C (p.Lys9Thr)	OR52B6 (K9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303065	NM_001005162.2(OR52B6):c.41T>C (p.Phe14Ser)	OR52B6 (F14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303063	NM_001005162.2(OR52B6):c.83G>A (p.Arg28His)	OR52B6 (R28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412016	NM_001005162.2(OR52B6):c.158T>C (p.Ile53Thr)	OR52B6 (I53T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205917	NM_001005162.2(OR52B6):c.191T>A (p.Ile64Asn)	OR52B6 (I64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245813	NM_001005162.2(OR52B6):c.323G>T (p.Gly108Val)	LOC112081400, OR52B6 (G108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303066	NM_001005162.2(OR52B6):c.471C>G (p.Ser157Arg)	LOC112081400, OR52B6 (S157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483511	NM_001005162.2(OR52B6):c.502C>A (p.Leu168Met)	LOC112081400, OR52B6 (L168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621465	NM_001005162.2(OR52B6):c.508C>T (p.His170Tyr)	LOC112081400, OR52B6 (H170Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303064	NM_001005162.2(OR52B6):c.556C>A (p.His186Asn)	OR52B6 (H186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205918	NM_001005162.2(OR52B6):c.569T>A (p.Ile190Asn)	OR52B6 (I190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609197	NM_001005162.2(OR52B6):c.584A>G (p.His195Arg)	OR52B6 (H195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205919	NM_001005162.2(OR52B6):c.591T>G (p.Phe197Leu)	OR52B6 (F197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282748	NM_001005162.2(OR52B6):c.688A>T (p.Ile230Phe)	OR52B6 (I230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313055	NM_001005162.2(OR52B6):c.697A>T (p.Ile233Phe)	OR52B6 (I233F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340638	NM_001005162.2(OR52B6):c.698T>C (p.Ile233Thr)	OR52B6 (I233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209798	NM_001005162.2(OR52B6):c.734T>A (p.Phe245Tyr)	OR52B6 (F245Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341295	NM_001005162.2(OR52B6):c.766G>A (p.Ala256Thr)	OR52B6 (A256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266819	NM_001005162.2(OR52B6):c.811T>C (p.Tyr271His)	OR52B6 (Y271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476797	NM_001005162.2(OR52B6):c.955A>C (p.Ile319Leu)	OR52B6 (I319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205920	NM_001005162.2(OR52B6):c.967G>T (p.Ala323Ser)	OR52B6 (A323S)	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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 1341222	GRCh37/hg19 11p15.4(chr11:5488908-5701819)x1	OR52B6, OR52D1 +6 more	Copy number loss	not provided	GUncertain significance
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 980408	GRCh37/hg19 11p15.4(chr11:5485211-5693876)x1	OR52B6, TRIM6 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815404	GRCh37/hg19 11p15.4(chr11:5505304-6199376)x3	TRIM5, OR56B4 +22 more	Copy number gain	not provided	GLikely benign
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 442099	GRCh37/hg19 11p15.4(chr11:5485210-5719251)x1	OR52B6, OR52D1 +7 more	Copy number loss	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 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 394072	GRCh37/hg19 11p15.4(chr11:5528520-5603113)x1	OR52B6, OR52H1 +2 more	Copy number loss	See cases	GUncertain significance

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Items: 46