OR51L1[gene] - ClinVar

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Items: 38

	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 3205840	NM_001004755.2(OR51L1):c.37A>C (p.Ile13Leu)	OR51L1 (I13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251236	NM_001004755.2(OR51L1):c.43A>T (p.Ile15Phe)	OR51L1 (I15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377845	NM_001004755.2(OR51L1):c.140T>A (p.Ile47Asn)	OR51L1 (I47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382338	NM_001004755.2(OR51L1):c.185A>T (p.Tyr62Phe)	OR51L1 (Y62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544036	NM_001004755.2(OR51L1):c.293C>G (p.Ala98Gly)	OR51L1 (A98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205839	NM_001004755.2(OR51L1):c.316A>C (p.Ile106Leu)	OR51L1 (I106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589369	NM_001004755.2(OR51L1):c.331T>C (p.Phe111Leu)	OR51L1 (F111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607634	NM_001004755.2(OR51L1):c.382A>T (p.Ile128Phe)	OR51L1 (I128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346606	NM_001004755.2(OR51L1):c.382A>G (p.Ile128Val)	OR51L1 (I128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205841	NM_001004755.2(OR51L1):c.422G>A (p.Ser141Asn)	OR51L1 (S141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484680	NM_001004755.2(OR51L1):c.557T>C (p.Val186Ala)	OR51L1 (V186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395636	NM_001004755.2(OR51L1):c.805C>A (p.His269Asn)	OR51L1 (H269N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205842	NM_001004755.2(OR51L1):c.806A>C (p.His269Pro)	OR51L1 (H269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591346	NM_001004755.2(OR51L1):c.931C>G (p.Leu311Val)	OR51L1 (L311V)	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 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340294	GRCh37/hg19 11p15.4(chr11:4937852-5037488)x1	MMP26, OR51A2 +3 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 980410	GRCh37/hg19 11p15.4(chr11:4970264-5225635)x1	OR51A2, OR52E2 +6 more	Copy number loss	not provided	GUncertain significance
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 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 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: 38