ClinVar for Gene (Select 4969) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204162	NM_014057.5(OGN):c.790C>T (p.Arg264Trp)	CENPP, OGN (R264W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204161	NM_014057.5(OGN):c.397A>C (p.Lys133Gln)	CENPP, OGN (K133Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204160	NM_014057.5(OGN):c.352C>G (p.Pro118Ala)	CENPP, OGN (P176A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204159	NM_014057.5(OGN):c.233C>T (p.Ala78Val)	CENPP, OGN (A136V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204158	NM_014057.5(OGN):c.201T>A (p.Asn67Lys)	CENPP, OGN (N125K +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	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2624186	NM_014057.5(OGN):c.665A>G (p.His222Arg)	CENPP, OGN (H222R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425154	NC_000009.11:g.(?_94485944)_(95527026_?)del	ASPN, BICD2 +10 more	Deletion	not provided	GPathogenic
Select item 2367684	NM_014057.5(OGN):c.79T>A (p.Ser27Thr)	CENPP, OGN (S27T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304444	NM_014057.5(OGN):c.242C>T (p.Pro81Leu)	CENPP, OGN (P139L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280955	NM_014057.5(OGN):c.83G>A (p.Arg28His)	CENPP, OGN (R28H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278949	NM_014057.5(OGN):c.364G>A (p.Ala122Thr)	CENPP, OGN (A180T +1 more)	Single nucleotide variant (missense 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	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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)	OR1L4, PTRH1 +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	MSANTD3, MSANTD3-TMEFF1 +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 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	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +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	ABCA1, ABCA2 +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	ABCA1, ABCA2 +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)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 221727	GRCh38/hg38 9q22.31(chr9:92301666-92417555)x1	OMD, CENPP +4 more	Copy number loss	Premature ovarian failure	GUncertain significance
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	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 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	ABCA1, ABCA2 +3785 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	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55