ASPN[gene] - ClinVar

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Items: 60

	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 1049559	NM_017680.6(ASPN):c.1090C>T (p.Arg364Cys)	ASPN, CENPP (R364C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3052688	NM_017680.6(ASPN):c.727T>C (p.Leu243=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 2274517	NM_017680.6(ASPN):c.627T>A (p.Asn209Lys)	ASPN, CENPP (N209K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041357	NM_017680.6(ASPN):c.575G>A (p.Gly192Glu)	ASPN, CENPP (G192E)	Single nucleotide variant (missense variant +1 more)	ASPN-related disorder	GBenign
Select item 3051497	NM_017680.6(ASPN):c.378A>T (p.Ser126=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3033526	NM_001012267.3(CENPP):c.564+94884TCA[18]	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	CENPP-related disorder	GBenign
Select item 1248251	NM_017680.6(ASPN):c.114TGA[19] (p.Asp50_Glu51insAspAspAspAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1237100	NM_017680.6(ASPN):c.114TGA[16] (p.Asp50_Glu51insAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 419955	NM_017680.6(ASPN):c.114TGA[17] (p.Asp50_Glu51insAspAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2527	NM_017680.6(ASPN):c.114TGA[15] (p.Asp50_Glu51insAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not specified	GBenign
Select item 1302755	NM_017680.6(ASPN):c.112_152= (p.Asp38_Glu51=)	ASPN, CENPP	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 3040749	NM_017680.6(ASPN):c.132T>C (p.Asp44=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3048941	NM_017680.6(ASPN):c.89T>C (p.Met30Thr)	ASPN, CENPP (M30T)	Single nucleotide variant (missense variant +1 more)	ASPN-related disorder	GLikely benign
Select item 2247049	NM_017680.6(ASPN):c.62C>A (p.Pro21His)	ASPN, CENPP (P21H)	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 2425154	NC_000009.11:g.(?_94485944)_(95527026_?)del	IARS1, IPPK +10 more	Deletion	not provided	GPathogenic
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 1527535	GRCh37/hg19 9q22.31(chr9:95174066-95242960)	ASPN, CENPP +1 more	Copy number loss	not specified	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 1073961	NC_000009.11:g.(?_95007241)_(95237179_?)del	ASPN, CENPP +4 more	Deletion	not provided	GPathogenic
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 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 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

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Items: 60