ClinVar for Gene (Select 26248) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302709	NM_205859.2(OR2K2):c.611T>C (p.Leu204Pro)	OR2K2 (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302708	NM_205859.2(OR2K2):c.854A>G (p.Asn285Ser)	OR2K2 (N285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302707	NM_205859.2(OR2K2):c.662T>G (p.Leu221Arg)	OR2K2 (L221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205169	NM_205859.2(OR2K2):c.920T>C (p.Ile307Thr)	OR2K2 (I307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205168	NM_205859.2(OR2K2):c.506G>C (p.Cys169Ser)	OR2K2 (C169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205167	NM_205859.2(OR2K2):c.455G>T (p.Gly152Val)	OR2K2 (G152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205166	NM_205859.2(OR2K2):c.418G>A (p.Val140Ile)	OR2K2 (V140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205165	NM_205859.2(OR2K2):c.349G>A (p.Val117Met)	OR2K2 (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205164	NM_205859.2(OR2K2):c.149T>G (p.Ile50Ser)	OR2K2 (I50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2568841	NM_205859.2(OR2K2):c.161G>A (p.Arg54His)	OR2K2 (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535209	NM_205859.2(OR2K2):c.498A>G (p.Ile166Met)	OR2K2 (I166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496420	NM_205859.2(OR2K2):c.629T>C (p.Met210Thr)	OR2K2 (M210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490590	NM_205859.2(OR2K2):c.917A>G (p.Lys306Arg)	OR2K2 (K306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459800	NM_205859.2(OR2K2):c.533G>A (p.Cys178Tyr)	OR2K2 (C178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458435	NM_205859.2(OR2K2):c.166A>G (p.Lys56Glu)	OR2K2 (K56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353594	NM_205859.2(OR2K2):c.705G>C (p.Lys235Asn)	OR2K2 (K235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315067	NM_205859.2(OR2K2):c.628A>T (p.Met210Leu)	OR2K2 (M210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301302	NM_205859.2(OR2K2):c.929A>G (p.His310Arg)	OR2K2 (H310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291253	NM_205859.2(OR2K2):c.137T>C (p.Ile46Thr)	OR2K2 (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290076	NM_205859.2(OR2K2):c.892G>T (p.Asp298Tyr)	OR2K2 (D298Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244670	NM_205859.2(OR2K2):c.313C>T (p.Leu105Phe)	OR2K2 (L105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237149	NM_205859.2(OR2K2):c.793A>G (p.Asn265Asp)	OR2K2 (N265D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212089	NM_205859.2(OR2K2):c.303G>A (p.Met101Ile)	OR2K2 (M101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1707440	GRCh37/hg19 9q31.3-32(chr9:113673200-115935268)x1	DNAJC25, DNAJC25-GNG10 +19 more	Copy number loss	See cases	GUncertain significance
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
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 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
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 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
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 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	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 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)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 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 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 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	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 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

Types of conflicts

Molecular consequence

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Variation size

Variant length

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Links from Gene

Items: 57