158135[Gene ID] - ClinVar

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Items: 80

	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 3184546	NM_001139442.2(TTLL11):c.2084G>A (p.Arg695His)	TTLL11 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511700	NM_001139442.2(TTLL11):c.2083C>T (p.Arg695Cys)	TTLL11 (R695C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329976	NM_001139442.2(TTLL11):c.2024G>A (p.Arg675His)	TTLL11 (R675H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316548	NM_001139442.2(TTLL11):c.2023C>T (p.Arg675Cys)	TTLL11 (R124C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184544	NM_001139442.2(TTLL11):c.2012G>A (p.Arg671Gln)	TTLL11 (R671Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242228	NM_001139442.2(TTLL11):c.2003C>T (p.Ser668Leu)	TTLL11 (S668L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184543	NM_001139442.2(TTLL11):c.2000C>T (p.Pro667Leu)	TTLL11 (P667L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242227	NM_001139442.2(TTLL11):c.2000C>A (p.Pro667Gln)	TTLL11 (P116Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224722	NM_001139442.2(TTLL11):c.1996G>A (p.Val666Ile)	TTLL11 (V115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184542	NM_001139442.2(TTLL11):c.1990C>T (p.Arg664Trp)	TTLL11 (R664W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458534	NM_001139442.2(TTLL11):c.1975C>T (p.Arg659Cys)	TTLL11 (R659C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369708	NM_001139442.2(TTLL11):c.1958C>A (p.Ser653Tyr)	TTLL11 (S653Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465313	NM_001139442.2(TTLL11):c.1953C>G (p.His651Gln)	TTLL11 (H100Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476741	NM_001139442.2(TTLL11):c.1858T>G (p.Phe620Val)	TTLL11 (F69V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184541	NM_001139442.2(TTLL11):c.1772C>T (p.Ala591Val)	TTLL11 (A591V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184540	NM_001139442.2(TTLL11):c.1757G>A (p.Ser586Asn)	TTLL11 (S586N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329977	NM_001139442.2(TTLL11):c.1721G>A (p.Arg574His)	TTLL11 (R23H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329973	NM_001139442.2(TTLL11):c.1720C>T (p.Arg574Cys)	TTLL11 (R23C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285470	NM_001139442.2(TTLL11):c.1672C>T (p.Arg558Trp)	TTLL11 (R7W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371177	NM_001139442.2(TTLL11):c.1640G>A (p.Arg547His)	TTLL11 (R547H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537406	NM_001139442.2(TTLL11):c.1493T>C (p.Leu498Pro)	TTLL11 (L498P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325193	NM_001139442.2(TTLL11):c.1358A>G (p.Glu453Gly)	TTLL11 (E453G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607266	NM_001139442.2(TTLL11):c.1336C>T (p.Pro446Ser)	TTLL11 (P213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336664	NM_001139442.2(TTLL11):c.1302T>A (p.Asn434Lys)	TTLL11 (N201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184539	NM_001139442.2(TTLL11):c.1295T>G (p.Met432Arg)	TTLL11 (M199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370693	NM_001139442.2(TTLL11):c.1169T>G (p.Ile390Ser)	TTLL11 (I390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332505	NM_001139442.2(TTLL11):c.1145T>G (p.Ile382Ser)	TTLL11 (I382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329975	NM_001139442.2(TTLL11):c.1138G>A (p.Val380Ile)	TTLL11 (V380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514197	NM_001139442.2(TTLL11):c.1063A>T (p.Ile355Phe)	TTLL11 (I355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590897	NM_001139442.2(TTLL11):c.1009C>T (p.Arg337Cys)	TTLL11 (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474561	NM_001139442.2(TTLL11):c.988C>A (p.Pro330Thr)	TTLL11 (P330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474560	NM_001139442.2(TTLL11):c.987G>C (p.Glu329Asp)	TTLL11 (E329D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329979	NM_001139442.2(TTLL11):c.952G>A (p.Gly318Arg)	TTLL11 (G318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378001	NM_001139442.2(TTLL11):c.805C>T (p.Arg269Cys)	TTLL11 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546851	NM_001139442.2(TTLL11):c.685G>A (p.Val229Ile)	TTLL11 (V229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302275	NM_001139442.2(TTLL11):c.672G>C (p.Glu224Asp)	TTLL11 (E224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184549	NM_001139442.2(TTLL11):c.649C>T (p.Arg217Cys)	TTLL11 (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496392	NM_001139442.2(TTLL11):c.317G>C (p.Arg106Pro)	TTLL11 (R106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225795	NM_001139442.2(TTLL11):c.302C>T (p.Pro101Leu)	TTLL11 (P101L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184548	NM_001139442.2(TTLL11):c.299G>A (p.Cys100Tyr)	TTLL11 (C100Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184547	NM_001139442.2(TTLL11):c.241C>T (p.Leu81Phe)	TTLL11 (L81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329974	NM_001139442.2(TTLL11):c.200C>T (p.Pro67Leu)	TTLL11 (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376556	NM_001139442.2(TTLL11):c.143C>G (p.Ala48Gly)	TTLL11 (A48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387640	NM_001139442.2(TTLL11):c.110T>C (p.Val37Ala)	TTLL11 (V37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294063	NM_001139442.2(TTLL11):c.24C>A (p.Ser8Arg)	TTLL11 (S8R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301955	NM_001139442.2(TTLL11):c.10G>C (p.Gly4Arg)	TTLL11 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255802	NM_001139442.2(TTLL11):c.-104C>T	TTLL11	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2601292	NM_001139442.1(TTLL11):c.105T>G (p.Asp35Glu)	TTLL11 (D35E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329978	NM_001139442.1(TTLL11):c.41C>T (p.Ala14Val)	TTLL11 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404846	NM_001139442.1(TTLL11):c.13G>C (p.Ala5Pro)	TTLL11 (A5P)	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 1330179	GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1	ASTN2, BRINP1 +19 more	Copy number loss	Intellectual disability, borderline +5 more	GUncertain significance
Select item 979876	GRCh37/hg19 9q33.2(chr9:124767988-124833475)x1	TTLL11	Copy number loss	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: 80