OR1N1[gene] - ClinVar

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Items: 58

	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 3302600	NM_012363.1(OR1N1):c.932C>T (p.Ser311Phe)	OR1J2, OR1N1 (S311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225714	NM_012363.1(OR1N1):c.854C>T (p.Pro285Leu)	OR1J2, OR1N1 (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91977	NM_012363.1(OR1N1):c.853C>A (p.Pro285Thr)	OR1J2, OR1N1 (P285T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605265	NM_012363.1(OR1N1):c.811G>T (p.Ala271Ser)	OR1J2, OR1N1 (A271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334616	NM_012363.1(OR1N1):c.804G>T (p.Lys268Asn)	OR1J2, OR1N1 (K268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242766	NM_012363.1(OR1N1):c.787A>G (p.Ile263Val)	OR1J2, OR1N1 (I263V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539053	NM_012363.1(OR1N1):c.755C>T (p.Thr252Ile)	OR1J2, OR1N1 (T252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204961	NM_012363.1(OR1N1):c.754A>C (p.Thr252Pro)	OR1J2, OR1N1 (T252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294198	NM_012363.1(OR1N1):c.634A>G (p.Ile212Val)	OR1J2, OR1N1 (I212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459683	NM_012363.1(OR1N1):c.610G>A (p.Val204Ile)	OR1J2, OR1N1 (V204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204959	NM_012363.1(OR1N1):c.488G>A (p.Arg163Gln)	OR1J2, OR1N1 (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210243	NM_012363.1(OR1N1):c.487C>T (p.Arg163Trp)	OR1J2, OR1N1 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622059	NM_012363.1(OR1N1):c.442G>A (p.Val148Ile)	OR1J2, OR1N1 (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481440	NM_012363.1(OR1N1):c.422T>C (p.Leu141Pro)	OR1J2, OR1N1 (L141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304049	NM_012363.1(OR1N1):c.392C>T (p.Ser131Phe)	OR1J2, OR1N1 (S131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535785	NM_012363.1(OR1N1):c.376C>T (p.His126Tyr)	OR1J2, OR1N1 (H126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344235	NM_012363.1(OR1N1):c.333C>A (p.Phe111Leu)	OR1J2, OR1N1 (F111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302599	NM_012363.1(OR1N1):c.301T>G (p.Phe101Val)	OR1J2, OR1N1 (F101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405881	NM_012363.1(OR1N1):c.290C>T (p.Thr97Met)	OR1J2, OR1N1 (T97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311574	NM_012363.1(OR1N1):c.278C>T (p.Thr93Met)	OR1J2, OR1N1 (T93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370669	NM_012363.1(OR1N1):c.215C>T (p.Thr72Met)	OR1J2, OR1N1 (T72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336837	NM_012363.1(OR1N1):c.194C>A (p.Ser65Tyr)	OR1J2, OR1N1 (S65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302602	NM_012363.1(OR1N1):c.178T>G (p.Phe60Val)	OR1J2, OR1N1 (F60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204962	NM_012363.1(OR1N1):c.92G>C (p.Cys31Ser)	OR1J2, OR1N1 (C31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204960	NM_012363.1(OR1N1):c.70T>A (p.Ser24Thr)	OR1J2, OR1N1 (S24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551688	NM_012363.1(OR1N1):c.55C>G (p.Pro19Ala)	OR1J2, OR1N1 (P19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304455	NM_012363.1(OR1N1):c.50C>T (p.Ala17Val)	OR1J2, OR1N1 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302601	NM_012363.1(OR1N1):c.40G>C (p.Gly14Arg)	OR1J2, OR1N1 (G14R)	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: 58