OR1J4[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 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 2333961	NM_001004452.1(OR1J4):c.23G>C (p.Ser8Thr)	OR1J2, OR1J4 (S8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204908	NM_001004452.1(OR1J4):c.44T>A (p.Leu15Gln)	OR1J2, OR1J4 (L15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359103	NM_001004452.1(OR1J4):c.98G>A (p.Gly33Asp)	OR1J2, OR1J4 (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302580	NM_001004452.1(OR1J4):c.119T>G (p.Leu40Arg)	OR1J2, OR1J4 (L40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258848	NM_001004452.1(OR1J4):c.149G>A (p.Arg50Gln)	OR1J2, OR1J4 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610315	NM_001004452.1(OR1J4):c.160C>A (p.His54Asn)	OR1J2, OR1J4 (H54N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204905	NM_001004452.1(OR1J4):c.170C>A (p.Thr57Asn)	OR1J2, OR1J4 (T57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302578	NM_001004452.1(OR1J4):c.211A>G (p.Ile71Val)	OR1J2, OR1J4 (I71V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393689	NM_001004452.1(OR1J4):c.239A>G (p.Lys80Arg)	OR1J2, OR1J4 (K80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606176	NM_001004452.1(OR1J4):c.298C>A (p.Gln100Lys)	OR1J2, OR1J4 (Q100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204906	NM_001004452.1(OR1J4):c.304T>C (p.Tyr102His)	OR1J2, OR1J4 (Y102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296056	NM_001004452.1(OR1J4):c.316T>A (p.Phe106Ile)	OR1J2, OR1J4 (F106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601393	NM_001004452.1(OR1J4):c.352A>G (p.Met118Val)	OR1J2, OR1J4 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474019	NM_001004452.1(OR1J4):c.365G>A (p.Arg122Gln)	OR1J2, OR1J4 (R122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204907	NM_001004452.1(OR1J4):c.392G>A (p.Arg131His)	OR1J2, OR1J4 (R131H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406760	NM_001004452.1(OR1J4):c.401C>G (p.Thr134Ser)	OR1J2, OR1J4 (T134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602314	NM_001004452.1(OR1J4):c.433G>A (p.Val145Ile)	OR1J2, OR1J4 (V145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479133	NM_001004452.1(OR1J4):c.524C>G (p.Pro175Arg)	OR1J2, OR1J4 (P175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302579	NM_001004452.1(OR1J4):c.527A>G (p.His176Arg)	OR1J2, OR1J4 (H176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337684	NM_001004452.1(OR1J4):c.548C>T (p.Ala183Val)	OR1J2, OR1J4 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385517	NM_001004452.1(OR1J4):c.557A>G (p.Lys186Arg)	OR1J2, OR1J4 (K186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213814	NM_001004452.1(OR1J4):c.676C>T (p.Leu226Phe)	OR1J2, OR1J4 (L226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302576	NM_001004452.1(OR1J4):c.683C>T (p.Ala228Val)	OR1J2, OR1J4 (A228V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320735	NM_001004452.1(OR1J4):c.761C>T (p.Thr254Ile)	OR1J2, OR1J4 (T254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465155	NM_001004452.1(OR1J4):c.836C>T (p.Thr279Met)	OR1J2, OR1J4 (T279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302577	NM_001004452.1(OR1J4):c.926C>T (p.Thr309Ile)	OR1J2, OR1J4 (T309I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +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: 56