25817[HGNC] - ClinVar

Search results

Items: 96

	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 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	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 150247	GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1	AGTPBP1, C9orf153 +31 more	Copy number loss	See cases	GUncertain significance
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 2594186	NM_024617.4(TUT7):c.4436A>C (p.Lys1479Thr)	TUT7 (K1243T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185059	NM_024617.4(TUT7):c.4402C>G (p.Gln1468Glu)	TUT7 (Q1468E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484195	NM_024617.4(TUT7):c.4313A>C (p.Glu1438Ala)	TUT7 (E1202A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185058	NM_024617.4(TUT7):c.4310T>C (p.Val1437Ala)	TUT7 (V1201A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185057	NM_024617.4(TUT7):c.4261A>T (p.Met1421Leu)	TUT7 (M1185L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185056	NM_024617.4(TUT7):c.4261A>G (p.Met1421Val)	TUT7 (M1421V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185055	NM_024617.4(TUT7):c.4106G>A (p.Arg1369Gln)	TUT7 (R1133Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185054	NM_024617.4(TUT7):c.4105C>T (p.Arg1369Trp)	TUT7 (R1369W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330324	NM_024617.4(TUT7):c.4102C>T (p.Arg1368Trp)	TUT7 (R1132W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185053	NM_024617.4(TUT7):c.4046T>C (p.Ile1349Thr)	TUT7 (I1349T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185052	NM_024617.4(TUT7):c.4018C>G (p.Leu1340Val)	TUT7 (L1104V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544516	NM_024617.4(TUT7):c.3697T>C (p.Ser1233Pro)	TUT7 (S1233P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185051	NM_024617.4(TUT7):c.3649A>G (p.Ile1217Val)	TUT7 (I1217V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185046	NM_024617.4(TUT7):c.3530T>C (p.Val1177Ala)	TUT7 (V466A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185044	NM_024617.4(TUT7):c.3181G>A (p.Val1061Ile)	TUT7 (V1061I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526508	NM_024617.4(TUT7):c.3058C>G (p.Gln1020Glu)	TUT7 (Q1020E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330328	NM_024617.4(TUT7):c.2953A>G (p.Ile985Val)	TUT7 (I274V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185041	NM_024617.4(TUT7):c.2738A>G (p.Lys913Arg)	TUT7 (K913R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561714	NM_024617.4(TUT7):c.2722G>A (p.Val908Met)	TUT7 (V785M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185039	NM_024617.4(TUT7):c.2699G>C (p.Gly900Ala)	TUT7 (G189A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588224	NM_024617.4(TUT7):c.2593A>G (p.Asn865Asp)	TUT7 (N742D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726973	NM_024617.4(TUT7):c.2551G>A (p.Asp851Asn)	TUT7 (D728N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3185036	NM_024617.4(TUT7):c.2547G>C (p.Glu849Asp)	TUT7 (E138D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185035	NM_024617.4(TUT7):c.2473G>T (p.Asp825Tyr)	TUT7 (D825Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555930	NM_024617.4(TUT7):c.2438A>T (p.Asp813Val)	TUT7 (D690V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185034	NM_024617.4(TUT7):c.2428G>A (p.Ala810Thr)	TUT7 (A687T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185033	NM_024617.4(TUT7):c.2339A>G (p.Asn780Ser)	TUT7 (N69S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185032	NM_024617.4(TUT7):c.2336G>A (p.Arg779His)	TUT7 (R656H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487981	NM_024617.4(TUT7):c.2153G>T (p.Ser718Ile)	TUT7 (S595I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487980	NM_024617.4(TUT7):c.2152A>C (p.Ser718Arg)	TUT7 (S595R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533124	NM_024617.4(TUT7):c.2089C>G (p.Leu697Val)	TUT7 (L574V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185031	NM_024617.4(TUT7):c.2069G>A (p.Cys690Tyr)	TUT7 (C567Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185030	NM_024617.4(TUT7):c.2006A>G (p.Asp669Gly)	TUT7 (D669G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185029	NM_024617.4(TUT7):c.1937C>T (p.Ala646Val)	TUT7 (A523V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185028	NM_024617.4(TUT7):c.1924A>C (p.Lys642Gln)	TUT7 (K642Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185027	NM_024617.4(TUT7):c.1852A>G (p.Ile618Val)	TUT7 (I495V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185026	NM_024617.4(TUT7):c.1609G>A (p.Val537Met)	TUT7 (V414M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613677	NM_024617.4(TUT7):c.1559G>C (p.Gly520Ala)	TUT7 (G397A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560977	NM_024617.4(TUT7):c.1546G>T (p.Ala516Ser)	TUT7 (A516S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547281	NM_024617.4(TUT7):c.1534A>G (p.Thr512Ala)	TUT7 (T512A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185024	NM_024617.4(TUT7):c.1522A>G (p.Ile508Val)	TUT7 (I385V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3185022	NM_024617.4(TUT7):c.1300G>T (p.Val434Phe)	TUT7 (V434F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185021	NM_024617.4(TUT7):c.1250G>A (p.Cys417Tyr)	TUT7 (C417Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463801	NM_024617.4(TUT7):c.1184T>C (p.Val395Ala)	TUT7 (V395A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618321	NM_024617.4(TUT7):c.1142C>G (p.Ser381Cys)	TUT7 (S381C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185020	NM_024617.4(TUT7):c.1033A>G (p.Arg345Gly)	TUT7 (R345G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330325	NM_024617.4(TUT7):c.1028G>A (p.Cys343Tyr)	TUT7 (C343Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185066	NM_024617.4(TUT7):c.976G>T (p.Val326Leu)	TUT7 (V326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185065	NM_024617.4(TUT7):c.928A>C (p.Asn310His)	TUT7 (N310H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185064	NM_024617.4(TUT7):c.913G>A (p.Glu305Lys)	TUT7 (E305K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185063	NM_024617.4(TUT7):c.905T>C (p.Val302Ala)	TUT7 (V302A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185062	NM_024617.4(TUT7):c.863C>T (p.Thr288Ile)	TUT7 (T288I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185061	NM_024617.4(TUT7):c.704G>A (p.Arg235Gln)	TUT7 (R235Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590799	NM_024617.4(TUT7):c.657G>C (p.Gln219His)	TUT7 (Q219H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783550	NM_024617.4(TUT7):c.563C>T (p.Thr188Ile)	TUT7 (T188I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3330327	NM_024617.4(TUT7):c.284A>G (p.Lys95Arg)	TUT7 (K95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185040	NM_024617.4(TUT7):c.272A>G (p.Asn91Ser)	TUT7 (N91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185037	NM_024617.4(TUT7):c.267G>C (p.Trp89Cys)	TUT7 (W89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330326	NM_024617.4(TUT7):c.166A>T (p.Ile56Leu)	TUT7 (I56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185023	NM_024617.4(TUT7):c.134G>C (p.Ser45Thr)	TUT7 (S45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185060	NM_024617.4(TUT7):c.55A>G (p.Met19Val)	TUT7 (M19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185050	NM_024617.4(TUT7):c.35G>T (p.Arg12Leu)	TUT7 (R12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185049	NM_024617.4(TUT7):c.35G>A (p.Arg12His)	TUT7 (R12H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185045	NM_024617.4(TUT7):c.34C>T (p.Arg12Cys)	TUT7 (R12C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185043	NM_024617.4(TUT7):c.28G>T (p.Val10Leu)	TUT7 (V10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185042	NM_024617.4(TUT7):c.28G>A (p.Val10Met)	TUT7 (V10M)	Single nucleotide variant (missense variant +1 more)	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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
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 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 815265	GRCh37/hg19 9q21.33(chr9:88622823-88951838)x3	C9orf153, ISCA1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 563635	GRCh37/hg19 9q21.33(chr9:88928097-89411190)x3	TUT7	Copy number gain	not provided	GLikely benign
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 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 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 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: 96