30184[HGNC] - ClinVar

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Items: 75

	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 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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 149008	GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4	AOPEP, BARX1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 3149050	NM_001253829.2(PTPDC1):c.5A>G (p.Gln2Arg)	LOC124310590, PTPDC1 (Q2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149051	NM_001253829.2(PTPDC1):c.70C>T (p.Arg24Trp)	LOC124310590, PTPDC1 (R24W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311373	NM_001253829.2(PTPDC1):c.107A>G (p.Gln36Arg)	LOC124310590, PTPDC1 (Q36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492256	NM_001253829.2(PTPDC1):c.125G>A (p.Gly42Asp)	LOC124310590, PTPDC1 (G42D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306925	NM_001253829.2(PTPDC1):c.136G>A (p.Gly46Ser)	LOC124310590, PTPDC1 (G46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333966	NM_001253829.2(PTPDC1):c.146C>T (p.Thr49Met)	LOC124310590, PTPDC1 (T49M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149043	NM_001253829.2(PTPDC1):c.150G>C (p.Lys50Asn)	LOC124310590, PTPDC1 (K50N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465588	NM_001253829.2(PTPDC1):c.161C>T (p.Ser54Leu)	PTPDC1 (S54L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245517	NM_001253829.2(PTPDC1):c.295C>T (p.Arg99Trp)	PTPDC1 (R99W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287573	NM_001253829.2(PTPDC1):c.347C>T (p.Ala116Val)	PTPDC1 (A116V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311375	NM_001253829.2(PTPDC1):c.364C>A (p.Pro122Thr)	PTPDC1 (P122T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620384	NM_001253829.2(PTPDC1):c.500A>G (p.His167Arg)	PTPDC1 (H165R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489394	NM_001253829.2(PTPDC1):c.625T>G (p.Tyr209Asp)	PTPDC1 (Y155D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383012	NM_001253829.2(PTPDC1):c.655G>A (p.Ala219Thr)	PTPDC1 (A165T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223912	NM_001253829.2(PTPDC1):c.844A>T (p.Ile282Leu)	PTPDC1 (I280L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149052	NM_001253829.2(PTPDC1):c.917C>G (p.Ser306Cys)	PTPDC1 (S252C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507695	NM_001253829.2(PTPDC1):c.917C>T (p.Ser306Phe)	PTPDC1 (S252F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149053	NM_001253829.2(PTPDC1):c.968G>A (p.Arg323His)	PTPDC1 (R323H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522700	NM_001253829.2(PTPDC1):c.974G>A (p.Arg325His)	PTPDC1 (R271H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237947	NM_001253829.2(PTPDC1):c.1015G>A (p.Val339Met)	PTPDC1 (V285M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149042	NM_001253829.2(PTPDC1):c.1043A>G (p.Lys348Arg)	PTPDC1 (K346R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409067	NM_001253829.2(PTPDC1):c.1132A>G (p.Met378Val)	PTPDC1 (M324V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373498	NM_001253829.2(PTPDC1):c.1150A>G (p.Met384Val)	PTPDC1 (M382V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605386	NM_001253829.2(PTPDC1):c.1273C>G (p.Pro425Ala)	PTPDC1 (P371A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601986	NM_001253829.2(PTPDC1):c.1364C>A (p.Ala455Asp)	PTPDC1 (A401D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311376	NM_001253829.2(PTPDC1):c.1408G>A (p.Ala470Thr)	PTPDC1 (A416T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311374	NM_001253829.2(PTPDC1):c.1508T>A (p.Val503Asp)	PTPDC1 (V449D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149044	NM_001253829.2(PTPDC1):c.1627G>C (p.Ala543Pro)	PTPDC1 (A543P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149045	NM_001253829.2(PTPDC1):c.1702G>A (p.Asp568Asn)	PTPDC1 (D566N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149046	NM_001253829.2(PTPDC1):c.1754G>T (p.Gly585Val)	PTPDC1 (G585V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149047	NM_001253829.2(PTPDC1):c.1792A>G (p.Thr598Ala)	PTPDC1 (T544A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149048	NM_001253829.2(PTPDC1):c.1816G>A (p.Gly606Ser)	PTPDC1 (G604S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598799	NM_001253829.2(PTPDC1):c.2146A>C (p.Met716Leu)	PTPDC1 (M662L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403004	NM_001253829.2(PTPDC1):c.2147T>A (p.Met716Lys)	PTPDC1 (M657K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460177	NM_001253829.2(PTPDC1):c.2173G>A (p.Ala725Thr)	PTPDC1 (A723T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311372	NM_001253829.2(PTPDC1):c.2185T>C (p.Phe729Leu)	PTPDC1 (F670L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149049	NM_001253829.2(PTPDC1):c.2231A>G (p.His744Arg)	PTPDC1 (H744R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248083	NM_001253829.2(PTPDC1):c.2309A>T (p.Lys770Met)	PTPDC1 (K770M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301135	NM_001253829.2(PTPDC1):c.2312T>G (p.Val771Gly)	PTPDC1 (V717G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063108	GRCh37/hg19 9q22.32(chr9:96614972-98444423)x1	AOPEP, BARX1 +14 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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 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 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 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1340660	GRCh37/hg19 9q22.32(chr9:96839257-97047402)x1	MIRLET7A1, MIRLET7D +3 more	Copy number loss	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 873324	Single allele	BARX1, FAM120A +11 more	Duplication	Delayed gross motor development +5 more	GLikely pathogenic
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 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 443720	GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1	AOPEP, CCDC180 +26 more	Copy number loss	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: 75