ClinVar for Gene (Select 64768) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286332	NM_022755.6(IPPK):c.1166C>T (p.Thr389Met)	IPPK (T389M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110381	NM_022755.6(IPPK):c.907C>T (p.Arg303Cys)	IPPK (R303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110380	NM_022755.6(IPPK):c.704A>T (p.His235Leu)	IPPK (H235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110379	NM_022755.6(IPPK):c.17T>C (p.Met6Thr)	IPPK, LOC130002069 (M6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110378	NM_022755.6(IPPK):c.1270G>A (p.Val424Ile)	CENPP, IPPK (V424I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3110377	NM_022755.6(IPPK):c.115C>T (p.Pro39Ser)	IPPK (P39S)	Single nucleotide variant (missense variant)	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 2617791	NM_022755.6(IPPK):c.1060G>A (p.Glu354Lys)	IPPK (E354K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607098	NM_022755.6(IPPK):c.403G>A (p.Val135Ile)	IPPK (V135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592545	NM_022755.6(IPPK):c.281C>A (p.Ser94Tyr)	IPPK (S94Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589928	NM_022755.6(IPPK):c.167T>C (p.Val56Ala)	IPPK (V56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551416	NM_022755.6(IPPK):c.1444G>A (p.Glu482Lys)	CENPP, IPPK (E482K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2532783	NM_022755.6(IPPK):c.184G>A (p.Val62Ile)	IPPK (V62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516965	NM_022755.6(IPPK):c.392C>T (p.Pro131Leu)	IPPK (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516762	NM_022755.6(IPPK):c.1399C>T (p.Arg467Cys)	CENPP, IPPK (R467C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2512366	NM_022755.6(IPPK):c.1375G>A (p.Val459Ile)	CENPP, IPPK (V459I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509996	NM_022755.6(IPPK):c.800G>A (p.Arg267Gln)	IPPK (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509118	NM_022755.6(IPPK):c.358A>G (p.Arg120Gly)	IPPK (R120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469651	NM_022755.6(IPPK):c.1459G>A (p.Val487Ile)	CENPP, IPPK (V487I)	Single nucleotide variant (3 prime UTR 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 2406317	NM_022755.6(IPPK):c.88G>A (p.Val30Ile)	IPPK (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394885	NM_022755.6(IPPK):c.1336G>A (p.Glu446Lys)	IPPK, CENPP (E446K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2317310	NM_022755.6(IPPK):c.1061A>G (p.Glu354Gly)	IPPK (E354G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314110	NM_022755.6(IPPK):c.454C>T (p.His152Tyr)	IPPK (H152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299689	NM_022755.6(IPPK):c.302G>T (p.Cys101Phe)	IPPK (C101F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277369	NM_022755.6(IPPK):c.818C>T (p.Ser273Leu)	IPPK (S273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260541	NM_022755.6(IPPK):c.1031G>A (p.Arg344Gln)	IPPK (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240822	NM_022755.6(IPPK):c.908G>A (p.Arg303His)	IPPK (R303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216299	NM_022755.6(IPPK):c.1466A>G (p.His489Arg)	CENPP, IPPK (H489R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214219	NM_022755.6(IPPK):c.938C>T (p.Ser313Leu)	IPPK (S313L)	Single nucleotide variant (missense variant)	not specified	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 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 1527536	GRCh37/hg19 9q22.31(chr9:95366107-95416168)	CENPP, IPPK	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 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 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 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 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 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 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

ClinVar

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Links from Gene

Items: 66