ClinVar for Gene (Select 347169) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302543	NM_001004450.3(OR1B1):c.619G>C (p.Glu207Gln)	OR1B1 (E207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302542	NM_001004450.3(OR1B1):c.638T>C (p.Leu213Pro)	OR1B1 (L213P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302541	NM_001004450.3(OR1B1):c.507G>C (p.Trp169Cys)	OR1B1 (W169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302540	NM_001004450.3(OR1B1):c.32C>T (p.Pro11Leu)	OR1B1 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302539	NM_001004450.3(OR1B1):c.560G>A (p.Arg187Gln)	OR1B1 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302538	NM_001004450.3(OR1B1):c.281C>A (p.Pro94His)	OR1B1 (P94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204850	NM_001004450.3(OR1B1):c.422G>A (p.Arg141Gln)	OR1B1 (R141Q)	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 2542097	NM_001004450.3(OR1B1):c.559C>T (p.Arg187Trp)	OR1B1 (R187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495998	NM_001004450.3(OR1B1):c.562C>T (p.Pro188Ser)	OR1B1 (P188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466711	NM_001004450.3(OR1B1):c.411G>A (p.Met137Ile)	OR1B1 (M137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462231	NM_001004450.3(OR1B1):c.756G>A (p.Met252Ile)	OR1B1 (M252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372863	NM_001004450.3(OR1B1):c.934T>C (p.Trp312Arg)	OR1B1 (W312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368428	NM_001004450.3(OR1B1):c.490G>A (p.Val164Ile)	OR1B1 (V164I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336541	NM_001004450.3(OR1B1):c.286G>A (p.Ala96Thr)	OR1B1 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309410	NM_001004450.3(OR1B1):c.14C>G (p.Pro5Arg)	OR1B1 (P5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302889	NM_001004450.3(OR1B1):c.914C>T (p.Ala305Val)	OR1B1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285323	NM_001004450.3(OR1B1):c.468C>A (p.His156Gln)	OR1B1 (H156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285262	NM_001004450.3(OR1B1):c.911G>A (p.Gly304Asp)	OR1B1 (G304D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277044	NM_001004450.3(OR1B1):c.827A>C (p.Asp276Ala)	OR1B1 (D276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262356	NM_001004450.3(OR1B1):c.655A>C (p.Ile219Leu)	OR1B1 (I219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 688958	GRCh37/hg19 9q33.2-33.3(chr9:125349988-126462569)x1	CRB2, DENND1A +15 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 403271	NM_001004450.3(OR1B1):c.35dup (p.Leu14Phefs)	OR1B1 (L14fs)	Duplication (frameshift variant)	not specified	GBenign
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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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 151940	GRCh38/hg38 9q33.2(chr9:122546532-122628235)x3	OR1B1, OR1J2 +3 more	Copy number gain	See cases	GBenign
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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 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

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Links from Gene

Items: 52