OR51E1[gene] - ClinVar

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Items: 55

	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 3205781	NM_152430.4(OR51E1):c.33T>G (p.Ser11Arg)	OR51E1 (S11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523779	NM_152430.4(OR51E1):c.65G>A (p.Gly22Asp)	OR51E1 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295205	NM_152430.4(OR51E1):c.242T>C (p.Met81Thr)	OR51E1 (M81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312904	NM_152430.4(OR51E1):c.277A>G (p.Thr93Ala)	OR51E1 (T93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226377	NM_152430.4(OR51E1):c.296C>A (p.Ala99Asp)	OR51E1 (A99D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205782	NM_152430.4(OR51E1):c.353T>C (p.Leu118Pro)	OR51E1 (L118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205783	NM_152430.4(OR51E1):c.437A>T (p.Lys146Ile)	OR51E1 (K146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462714	NM_152430.4(OR51E1):c.517C>T (p.Arg173Cys)	OR51E1 (R173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512076	NM_152430.4(OR51E1):c.518G>A (p.Arg173His)	OR51E1 (R173H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340887	NM_152430.4(OR51E1):c.520T>C (p.Ser174Pro)	OR51E1 (S174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205784	NM_152430.4(OR51E1):c.559G>A (p.Val187Ile)	OR51E1 (V187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379471	NM_152430.4(OR51E1):c.580G>A (p.Asp194Asn)	OR51E1 (D194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386559	NM_152430.4(OR51E1):c.586C>T (p.Arg196Trp)	OR51E1 (R196W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205785	NM_152430.4(OR51E1):c.625G>A (p.Ala209Thr)	OR51E1 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603297	NM_152430.4(OR51E1):c.647T>C (p.Leu216Pro)	OR51E1 (L216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483244	NM_152430.4(OR51E1):c.667C>T (p.Leu223Phe)	OR51E1 (L223F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280520	NM_152430.4(OR51E1):c.673C>T (p.Leu225Phe)	OR51E1 (L225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270855	NM_152430.4(OR51E1):c.698G>A (p.Arg233His)	OR51E1 (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214220	NM_152430.4(OR51E1):c.730G>A (p.Val244Ile)	OR51E1 (V244I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278182	NM_152430.4(OR51E1):c.739G>C (p.Val247Leu)	OR51E1 (V247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216881	NM_152430.4(OR51E1):c.772A>T (p.Ile258Phe)	OR51E1 (I258F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227545	NM_152430.4(OR51E1):c.793C>T (p.Arg265Cys)	OR51E1 (R265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236343	NM_152430.4(OR51E1):c.809G>A (p.Arg270His)	OR51E1 (R270H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227676	NM_152430.4(OR51E1):c.826G>A (p.Val276Ile)	OR51E1 (V276I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303000	NM_152430.4(OR51E1):c.863T>G (p.Val288Gly)	OR51E1 (V288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454769	NM_152430.4(OR51E1):c.905G>A (p.Arg302Gln)	OR51E1 (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205786	NM_152430.4(OR51E1):c.944C>T (p.Ala315Val)	OR51E1 (A315V)	Single nucleotide variant (missense variant)	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 1807596	GRCh37/hg19 11p15.4(chr11:4384773-4681230)x3	C11orf40, OR51D1 +9 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 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 441732	GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	ART1, ART5 +17 more	Copy number gain	See cases	GLikely benign
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 402124	GRCh37/hg19 11p15.4(chr11:4387760-4840438)x3	C11orf40, OR51D1 +12 more	Copy number gain	See cases	GUncertain significance
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: 55