OR51B4[gene] - ClinVar

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Items: 51

	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 3255366	Single allele	A-GAMMA3'E, BGLT3 +15 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 2278361	NM_033179.2(OR51B4):c.842C>G (p.Pro281Arg)	HBB-LCR, OR51B4 (P281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302990	NM_033179.2(OR51B4):c.840T>A (p.Phe280Leu)	HBB-LCR, OR51B4 (F280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535129	NM_033179.2(OR51B4):c.811A>G (p.Ile271Val)	HBB-LCR, OR51B4 (I271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362977	NM_033179.2(OR51B4):c.721C>T (p.His241Tyr)	HBB-LCR, OR51B4 (H241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205768	NM_033179.2(OR51B4):c.704T>C (p.Leu235Pro)	HBB-LCR, OR51B4 (L235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235602	NM_033179.2(OR51B4):c.674T>C (p.Ile225Thr)	HBB-LCR, OR51B4 (I225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250826	NM_033179.2(OR51B4):c.668T>A (p.Met223Lys)	HBB-LCR, OR51B4 (M223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592147	NM_033179.2(OR51B4):c.654C>G (p.Ile218Met)	HBB-LCR, OR51B4 (I218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552614	NM_033179.2(OR51B4):c.620A>G (p.Asp207Gly)	HBB-LCR, OR51B4 (D207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599535	NM_033179.2(OR51B4):c.569C>T (p.Thr190Met)	HBB-LCR, OR51B4 (T190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205767	NM_033179.2(OR51B4):c.567C>G (p.Ile189Met)	HBB-LCR, OR51B4 (I189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205766	NM_033179.2(OR51B4):c.534T>A (p.His178Gln)	HBB-LCR, OR51B4 (H178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301876	NM_033179.2(OR51B4):c.505C>T (p.Arg169Cys)	HBB-LCR, OR51B4 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243743	NM_033179.2(OR51B4):c.422T>C (p.Ile141Thr)	HBB-LCR, OR51B4 (I141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410081	NM_033179.2(OR51B4):c.421A>G (p.Ile141Val)	HBB-LCR, OR51B4 (I141V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205764	NM_033179.2(OR51B4):c.350A>G (p.Tyr117Cys)	HBB-LCR, OR51B4 (Y117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218428	NM_033179.2(OR51B4):c.346G>A (p.Ala116Thr)	HBB-LCR, OR51B4 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205763	NM_033179.2(OR51B4):c.332T>G (p.Ile111Ser)	HBB-LCR, OR51B4 (I111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293746	NM_033179.2(OR51B4):c.323A>C (p.Glu108Ala)	HBB-LCR, OR51B4 (E108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302989	NM_033179.2(OR51B4):c.311T>G (p.Leu104Arg)	HBB-LCR, OR51B4 (L104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205761	NM_033179.2(OR51B4):c.274C>A (p.His92Asn)	HBB-LCR, OR51B4 (H92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394979	NM_033179.2(OR51B4):c.269T>C (p.Ile90Thr)	HBB-LCR, OR51B4 (I90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302988	NM_033179.2(OR51B4):c.227T>C (p.Met76Thr)	HBB-LCR, OR51B4 (M76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283358	NM_033179.2(OR51B4):c.221C>T (p.Thr74Ile)	HBB-LCR, OR51B4 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510479	NM_033179.2(OR51B4):c.213G>C (p.Met71Ile)	OR51B4, HBB-LCR (M71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205760	NM_033179.2(OR51B4):c.200C>T (p.Thr67Met)	HBB-LCR, OR51B4 (T67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226573	NM_033179.2(OR51B4):c.194C>T (p.Ala65Val)	HBB-LCR, OR51B4 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481896	NM_033179.2(OR51B4):c.71G>A (p.Arg24Gln)	HBB-LCR, OR51B4 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519807	NM_033179.2(OR51B4):c.53C>T (p.Ser18Leu)	HBB-LCR, OR51B4 (S18L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205762	NM_033179.2(OR51B4):c.29T>G (p.Phe10Cys)	HBB-LCR, OR51B4 (F10C)	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 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 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 815400	GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1	HBD, OR52A1 +7 more	Copy number loss	not provided	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 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: 51