ClinVar for Gene (Select 55035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300286	NM_017948.6(NOL8):c.2303G>A (p.Arg768Lys)	NOL8 (R768K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300285	NM_017948.6(NOL8):c.2475G>T (p.Glu825Asp)	NOL8 (E825D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300284	NM_017948.6(NOL8):c.431G>A (p.Ser144Asn)	NOL8 (S76N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300283	NM_017948.6(NOL8):c.1619G>A (p.Arg540His)	NOL8 (R540H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3300281	NM_017948.6(NOL8):c.190G>A (p.Asp64Asn)	NOL8 (D64N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3300280	NM_017948.6(NOL8):c.1625C>T (p.Ala542Val)	NOL8 (A474V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300279	NM_017948.6(NOL8):c.2146G>A (p.Gly716Ser)	NOL8 (G716S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201092	NM_017948.6(NOL8):c.848T>C (p.Phe283Ser)	NOL8 (F283S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201091	NM_017948.6(NOL8):c.842T>G (p.Leu281Arg)	NOL8 (L213R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201090	NM_017948.6(NOL8):c.683G>A (p.Ser228Asn)	NOL8 (S160N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201089	NM_017948.6(NOL8):c.424G>C (p.Val142Leu)	NOL8 (V142L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201088	NM_017948.6(NOL8):c.365G>A (p.Gly122Glu)	NOL8 (G122E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201087	NM_017948.6(NOL8):c.3232C>T (p.Arg1078Cys)	NOL8 (R1010C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201085	NM_017948.6(NOL8):c.2602G>T (p.Asp868Tyr)	NOL8 (D868Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201084	NM_017948.6(NOL8):c.2540A>G (p.Asp847Gly)	NOL8 (D779G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201083	NM_017948.6(NOL8):c.2341A>G (p.Asn781Asp)	NOL8 (N713D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201082	NM_017948.6(NOL8):c.2195G>A (p.Arg732Gln)	NOL8 (R664Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201081	NM_017948.6(NOL8):c.2042C>T (p.Ser681Phe)	NOL8 (S613F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201080	NM_017948.6(NOL8):c.2029G>A (p.Glu677Lys)	NOL8 (E677K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201079	NM_017948.6(NOL8):c.1838T>A (p.Met613Lys)	NOL8 (M545K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201078	NM_017948.6(NOL8):c.1687G>A (p.Glu563Lys)	NOL8 (E495K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201077	NM_017948.6(NOL8):c.1571A>G (p.Lys524Arg)	NOL8 (K456R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201076	NM_017948.6(NOL8):c.1156G>A (p.Ala386Thr)	NOL8 (A318T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201075	NM_017948.6(NOL8):c.1106T>A (p.Ile369Asn)	NOL8 (I301N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201074	NM_017948.6(NOL8):c.1105A>G (p.Ile369Val)	NOL8 (I369V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2624422	NM_017948.6(NOL8):c.2549A>G (p.Asn850Ser)	NOL8 (N782S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616067	NM_017948.6(NOL8):c.1585C>G (p.Pro529Ala)	NOL8 (P461A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610266	NM_017948.6(NOL8):c.817T>C (p.Ser273Pro)	NOL8 (S205P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608290	NM_017948.6(NOL8):c.2506G>T (p.Asp836Tyr)	NOL8 (D768Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607035	NM_017948.6(NOL8):c.2644G>A (p.Asp882Asn)	NOL8 (D814N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558457	NM_017948.6(NOL8):c.1285A>G (p.Lys429Glu)	NOL8 (K429E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539714	NM_017948.6(NOL8):c.896A>G (p.Asp299Gly)	NOL8 (D231G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518705	NM_017948.6(NOL8):c.344A>G (p.Asn115Ser)	NOL8 (N115S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2479358	NM_017948.6(NOL8):c.340G>A (p.Ala114Thr)	NOL8 (A46T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472686	NM_017948.6(NOL8):c.1769A>C (p.Lys590Thr)	NOL8 (K590T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461584	NM_017948.6(NOL8):c.3430G>A (p.Ala1144Thr)	NOL8 (A1106T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458786	NM_017948.6(NOL8):c.533T>C (p.Ile178Thr)	NOL8 (I178T +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 2405947	NM_017948.6(NOL8):c.1966C>T (p.Arg656Cys)	NOL8 (R588C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371848	NM_017948.6(NOL8):c.2398G>A (p.Gly800Ser)	NOL8 (G732S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365985	NM_017948.6(NOL8):c.481C>T (p.Arg161Cys)	NOL8 (R161C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365644	NM_017948.6(NOL8):c.2001A>C (p.Arg667Ser)	NOL8 (R667S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360791	NM_017948.6(NOL8):c.2096A>G (p.His699Arg)	NOL8 (H699R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359393	NM_017948.6(NOL8):c.2036A>C (p.Lys679Thr)	NOL8 (K679T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336836	NM_017948.6(NOL8):c.686C>A (p.Ser229Tyr)	NOL8 (S161Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332563	NM_017948.6(NOL8):c.3214G>A (p.Val1072Ile)	NOL8 (V1072I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320753	NM_017948.6(NOL8):c.3172G>A (p.Glu1058Lys)	NOL8 (E1058K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315719	NM_017948.6(NOL8):c.3308C>T (p.Ala1103Val)	NOL8 (A1065V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309359	NM_017948.6(NOL8):c.3410T>C (p.Met1137Thr)	NOL8 (M1099T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308110	NM_017948.6(NOL8):c.606G>A (p.Met202Ile)	NOL8 (M134I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303122	NM_017948.6(NOL8):c.3350C>G (p.Ser1117Cys)	NOL8 (S1117C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297476	NM_017948.6(NOL8):c.2305C>G (p.Gln769Glu)	NOL8 (Q701E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295697	NM_017948.6(NOL8):c.298G>A (p.Glu100Lys)	NOL8 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293268	NM_017948.6(NOL8):c.1076G>A (p.Arg359His)	NOL8 (R291H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287185	NM_017948.6(NOL8):c.3461G>A (p.Arg1154Gln)	NOL8 (R1154Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275483	NM_017948.6(NOL8):c.125G>A (p.Arg42Gln)	NOL8 (R42Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2257158	NM_017948.6(NOL8):c.188C>T (p.Ala63Val)	NOL8 (A63V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2254640	NM_017948.6(NOL8):c.3445C>G (p.Leu1149Val)	NOL8 (L1149V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254523	NM_017948.6(NOL8):c.1574G>C (p.Ser525Thr)	NOL8 (S457T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234380	NM_017948.6(NOL8):c.2216C>T (p.Ser739Leu)	NOL8 (S671L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230316	NM_017948.6(NOL8):c.404T>G (p.Val135Gly)	NOL8 (V135G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224298	NM_017948.6(NOL8):c.1479A>T (p.Gln493His)	NOL8 (Q493H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221001	NM_017948.6(NOL8):c.2336T>C (p.Val779Ala)	NOL8 (V779A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208370	NM_017948.6(NOL8):c.289C>G (p.Gln97Glu)	NOL8 (Q29E +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	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 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 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 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 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	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 154976	GRCh38/hg38 9q22.31(chr9:92094765-92337566)x3	LOC130002066, CENPP +11 more	Copy number gain	See cases	GUncertain significance
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

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