OR1L8[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152030	GRCh38/hg38 9q33.2(chr9:122546532-122607645)x1	OR1J2, OR1L8 +1 more	Copy number loss	See cases	GBenign
Select item 151940	GRCh38/hg38 9q33.2(chr9:122546532-122628235)x3	OR1B1, OR1J2 +3 more	Copy number gain	See cases	GBenign
Select item 2559818	NM_001004457.2(OR1N2):c.76G>A (p.Glu26Lys)	OR1J2, OR1L8 +1 more (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250016	NM_001004457.2(OR1N2):c.169C>T (p.His57Tyr)	OR1J2, OR1L8 +1 more (H57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274270	NM_001004457.2(OR1N2):c.250A>T (p.Met84Leu)	OR1J2, OR1L8 +1 more (M84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603117	NM_001004457.2(OR1N2):c.287C>T (p.Ser96Leu)	OR1J2, OR1L8 +1 more (S96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297015	NM_001004457.2(OR1N2):c.368A>G (p.Tyr123Cys)	OR1J2, OR1L8 +1 more (Y123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709559	NM_001004457.2(OR1N2):c.373C>T (p.Arg125Cys)	OR1J2, OR1L8 +1 more (R125C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3302603	NM_001004457.2(OR1N2):c.422C>T (p.Pro141Leu)	OR1J2, OR1L8 +1 more (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590759	NM_001004457.2(OR1N2):c.503G>A (p.Arg168His)	OR1J2, OR1L8 +1 more (R168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401339	NM_001004457.2(OR1N2):c.505G>A (p.Val169Met)	OR1J2, OR1L8 +1 more (V169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595898	NM_001004457.2(OR1N2):c.516T>G (p.Cys172Trp)	OR1J2, OR1L8 +1 more (C172W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314681	NM_001004457.2(OR1N2):c.536A>G (p.His179Arg)	OR1J2, OR1L8 +1 more (H179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482708	NM_001004457.2(OR1N2):c.541T>C (p.Tyr181His)	OR1J2, OR1L8 +1 more (Y181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541154	NM_001004457.2(OR1N2):c.542A>C (p.Tyr181Ser)	OR1J2, OR1L8 +1 more (Y181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383364	NM_001004457.2(OR1N2):c.566A>G (p.Lys189Arg)	OR1J2, OR1L8 +1 more (K189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302606	NM_001004457.2(OR1N2):c.568C>T (p.Leu190Phe)	OR1J2, OR1L8 +1 more (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388756	NM_001004457.2(OR1N2):c.569T>C (p.Leu190Pro)	OR1J2, OR1L8 +1 more (L190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481317	NM_001004457.2(OR1N2):c.725C>A (p.Ser242Tyr)	OR1J2, OR1L8 +1 more (S242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302605	NM_001004457.2(OR1N2):c.767G>T (p.Gly256Val)	OR1J2, OR1L8 +1 more (G256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204963	NM_001004457.2(OR1N2):c.846G>A (p.Met282Ile)	OR1J2, OR1L8 +1 more (M282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212165	NM_001004457.2(OR1N2):c.862C>G (p.Leu288Val)	OR1J2, OR1L8 +1 more (L288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461772	NM_001004454.2(OR1L8):c.925T>G (p.Ser309Ala)	OR1J2, OR1L8 (S309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340029	NM_001004454.2(OR1L8):c.736C>T (p.Leu246Phe)	OR1J2, OR1L8 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302592	NM_001004454.2(OR1L8):c.724T>A (p.Cys242Ser)	OR1J2, OR1L8 (C242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352399	NM_001004454.2(OR1L8):c.706C>T (p.Arg236Cys)	OR1L8, OR1J2 (R236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519671	NM_001004454.2(OR1L8):c.497G>A (p.Arg166His)	OR1J2, OR1L8 (R166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365650	NM_001004454.2(OR1L8):c.496C>A (p.Arg166Ser)	OR1J2, OR1L8 (R166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204947	NM_001004454.2(OR1L8):c.428T>C (p.Val143Ala)	OR1J2, OR1L8 (V143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204946	NM_001004454.2(OR1L8):c.424T>C (p.Cys142Arg)	OR1J2, OR1L8 (C142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271009	NM_001004454.2(OR1L8):c.368G>A (p.Arg123His)	OR1J2, OR1L8 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204944	NM_001004454.2(OR1L8):c.306G>T (p.Met102Ile)	OR1J2, OR1L8 (M102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220447	NM_001004454.2(OR1L8):c.256T>A (p.Phe86Ile)	OR1J2, OR1L8 (F86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546593	NM_001004454.2(OR1L8):c.189C>G (p.Phe63Leu)	OR1J2, OR1L8 (F63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351235	NM_001004454.2(OR1L8):c.118A>G (p.Ile40Val)	OR1J2, OR1L8 (I40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598645	NM_001004454.2(OR1L8):c.34G>A (p.Glu12Lys)	OR1J2, OR1L8 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204945	NM_001004454.2(OR1L8):c.32C>G (p.Ser11Cys)	OR1J2, OR1L8 (S11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491224	NM_001004454.2(OR1L8):c.5A>G (p.Glu2Gly)	OR1J2, OR1L8 (E2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 979875	GRCh37/hg19 9q33.2(chr9:125154228-125339689)x1	OR1J4, PTGS1 +5 more	Copy number loss	not provided	GLikely benign
Select item 815294	GRCh37/hg19 9q33.2(chr9:125105375-125616987)x3	OR1B1, OR1J1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 815293	GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1	CRB2, DENND1A +28 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 68