ClinVar for Gene (Select 1842) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274423	NM_001393.4(ECM2):c.1757T>G (p.Leu586Trp)	CENPP, ECM2 (L586W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274422	NM_001393.4(ECM2):c.697T>C (p.Ser233Pro)	CENPP, ECM2 (S211P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3274421	NM_001393.4(ECM2):c.1151T>C (p.Ile384Thr)	CENPP, ECM2 (I384T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086998	NM_001393.4(ECM2):c.820G>C (p.Asp274His)	CENPP, ECM2 (D252H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086997	NM_001393.4(ECM2):c.796C>T (p.Arg266Cys)	CENPP, ECM2 (R244C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086995	NM_001393.4(ECM2):c.776G>A (p.Arg259Lys)	CENPP, ECM2 (R237K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086994	NM_001393.4(ECM2):c.664G>A (p.Glu222Lys)	CENPP, ECM2 (E200K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086993	NM_001393.4(ECM2):c.560C>G (p.Pro187Arg)	CENPP, ECM2 (P165R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086992	NM_001393.4(ECM2):c.496C>T (p.Leu166Phe)	CENPP, ECM2 (L166F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086991	NM_001393.4(ECM2):c.1799G>A (p.Arg600His)	CENPP, ECM2 (R600H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086990	NM_001393.4(ECM2):c.1652C>T (p.Pro551Leu)	CENPP, ECM2 (P529L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086989	NM_001393.4(ECM2):c.1502C>T (p.Thr501Ile)	CENPP, ECM2 (T501I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086988	NM_001393.4(ECM2):c.1408C>A (p.Arg470Ser)	CENPP, ECM2 (R448S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063081	GRCh37/hg19 9q22.31(chr9:94666957-95345707)x3	ASPN, CENPP +8 more	Copy number gain	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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2618844	NM_001393.4(ECM2):c.1532T>C (p.Ile511Thr)	CENPP, ECM2 (I511T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618144	NM_001393.4(ECM2):c.1283C>T (p.Ala428Val)	CENPP, ECM2 (A428V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595671	NM_001393.4(ECM2):c.623A>G (p.Lys208Arg)	CENPP, ECM2 (K208R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553582	NM_001393.4(ECM2):c.439G>C (p.Val147Leu)	CENPP, ECM2 (V147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544497	NM_001393.4(ECM2):c.65A>C (p.Asn22Thr)	CENPP, ECM2 (N22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543213	NM_001393.4(ECM2):c.865G>C (p.Glu289Gln)	CENPP, ECM2 (E289Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489121	NM_001393.4(ECM2):c.205A>G (p.Ile69Val)	CENPP, ECM2 (I69V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2481767	NM_001393.4(ECM2):c.1439C>T (p.Pro480Leu)	CENPP, ECM2 (P458L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478243	NM_001393.4(ECM2):c.2036C>T (p.Ser679Phe)	CENPP, ECM2 (S679F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476910	NM_001393.4(ECM2):c.1075C>A (p.Pro359Thr)	CENPP, ECM2 (P337T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467278	NM_001393.4(ECM2):c.1708C>T (p.Arg570Trp)	CENPP, ECM2 (R548W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463246	NM_001393.4(ECM2):c.1288G>A (p.Asp430Asn)	CENPP, ECM2 (D408N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461453	NM_001393.4(ECM2):c.1460T>C (p.Ile487Thr)	CENPP, ECM2 (I465T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456420	NM_001393.4(ECM2):c.1060T>C (p.Ser354Pro)	CENPP, ECM2 (S332P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425154	NC_000009.11:g.(?_94485944)_(95527026_?)del	IARS1, IPPK +10 more	Deletion	not provided	GPathogenic
Select item 2411874	NM_001393.4(ECM2):c.1785T>A (p.Asp595Glu)	CENPP, ECM2 (D595E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401633	NM_001393.4(ECM2):c.1559A>G (p.Lys520Arg)	CENPP, ECM2 (K498R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400340	NM_001393.4(ECM2):c.1521T>A (p.His507Gln)	CENPP, ECM2 (H485Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387555	NM_001393.4(ECM2):c.877G>A (p.Val293Ile)	CENPP, ECM2 (V293I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386048	NM_001393.4(ECM2):c.144A>T (p.Arg48Ser)	CENPP, ECM2 (R48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377351	NM_001393.4(ECM2):c.466G>C (p.Val156Leu)	CENPP, ECM2 (V156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371433	NM_001393.4(ECM2):c.1016C>T (p.Pro339Leu)	CENPP, ECM2 (P339L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363413	NM_001393.4(ECM2):c.1811A>G (p.Tyr604Cys)	CENPP, ECM2 (Y582C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360818	NM_001393.4(ECM2):c.1882C>A (p.Gln628Lys)	CENPP, ECM2 (Q628K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326747	NM_001393.4(ECM2):c.1930C>T (p.Arg644Trp)	CENPP, ECM2 (R622C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305605	NM_001393.4(ECM2):c.1898T>G (p.Leu633Arg)	CENPP, ECM2 (L611R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298614	NM_001393.4(ECM2):c.944G>A (p.Arg315His)	CENPP, ECM2 (R293H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281663	NM_001393.4(ECM2):c.1397T>C (p.Leu466Pro)	CENPP, ECM2 (L466P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277073	NM_001393.4(ECM2):c.1412T>C (p.Leu471Pro)	CENPP, ECM2 (L449P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271684	NM_001393.4(ECM2):c.767A>T (p.Glu256Val)	CENPP, ECM2 (E256V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267757	NM_001393.4(ECM2):c.368C>T (p.Thr123Ile)	CENPP, ECM2 (T123I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240526	NM_001393.4(ECM2):c.1186A>T (p.Met396Leu)	CENPP, ECM2 (M396L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212439	NM_001393.4(ECM2):c.1066G>A (p.Ala356Thr)	CENPP, ECM2 (A356T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210495	NM_001393.4(ECM2):c.145T>A (p.Ser49Thr)	CENPP, ECM2 (S49T)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 1809484	GRCh37/hg19 9q22.31(chr9:94666958-95339157)x3	ASPN, CENPP +8 more	Copy number gain	not provided	GUncertain significance
Select item 1809236	GRCh37/hg19 9q22.31(chr9:95079794-95503060)x1	ASPN, BICD2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1807896	GRCh37/hg19 9q22.31(chr9:95076710-95263214)x1	ASPN, CENPP +4 more	Copy number loss	not provided	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 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 1373353	NC_000009.11:g.(?_94794747)_(95527026_?)del	ASPN, BICD2 +9 more	Deletion	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
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 1340819	GRCh37/hg19 9q22.31(chr9:95052447-95382122)x3	ASPN, CENPP +6 more	Copy number gain	not provided	GUncertain significance
Select item 979860	GRCh37/hg19 9q22.31(chr9:95175351-95375366)x1	ASPN, CENPP +2 more	Copy number loss	not provided	GUncertain significance
Select item 816491	GRCh37/hg19 9q22.31(chr9:94671200-95325631)x3	ASPN, CENPP +8 more	Copy number gain	See cases	GUncertain significance
Select item 815270	GRCh37/hg19 9q22.31(chr9:95146115-95280874)x1	ASPN, CENPP +3 more	Copy number loss	not provided	GUncertain significance
Select item 815269	GRCh37/hg19 9q22.31(chr9:95079793-95503060)x1	ASPN, BICD2 +6 more	Copy number loss	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 688800	GRCh37/hg19 9q22.31(chr9:95123353-95453320)x1	ASPN, CENPP +4 more	Copy number loss	not provided	GUncertain significance
Select item 687608	GRCh37/hg19 9q22.31(chr9:95258118-95888821)x1	BICD2, CARD19 +7 more	Copy number loss	not provided	GUncertain significance
Select item 687103	GRCh37/hg19 9q22.31(chr9:94667669-95345847)x3	ASPN, CENPP +8 more	Copy number gain	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 686795	GRCh37/hg19 9q22.31(chr9:95058076-95292831)x1	ASPN, CENPP +4 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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 563667	GRCh37/hg19 9q22.31(chr9:94907633-96493970)x1	ASPN, BICD2 +17 more	Copy number loss	not provided	GUncertain significance
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 395512	GRCh37/hg19 9q22.31(chr9:95262129-95290097)x3	CENPP, ECM2	Copy number gain	See cases	GBenign
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 221469	GRCh37/hg19 9q22.31(chr9:95051642-95264865)x3	OMD, ASPN +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
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 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	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 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	LOC110121197, LOC110121234 +3786 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 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: 92