ClinVar for Gene (Select 83744) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258367	NM_031486.4(ZNF484):c.448G>C (p.Asp150His)	ZNF484 (D114H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258366	NM_031486.4(ZNF484):c.912A>G (p.Ile304Met)	ZNF484 (I268M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258364	NM_031486.4(ZNF484):c.1524G>C (p.Arg508Ser)	ZNF484 (R510S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258363	NM_031486.4(ZNF484):c.1309G>C (p.Glu437Gln)	ZNF484 (E401Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258362	NM_031486.4(ZNF484):c.866C>T (p.Thr289Ile)	ZNF484 (T289I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196093	NM_031486.4(ZNF484):c.806A>C (p.His269Pro)	ZNF484 (H271P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196092	NM_031486.4(ZNF484):c.788A>G (p.Lys263Arg)	ZNF484 (K265R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196091	NM_031486.4(ZNF484):c.782C>T (p.Ser261Phe)	ZNF484 (S278F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196090	NM_031486.4(ZNF484):c.736A>G (p.Thr246Ala)	ZNF484 (T246A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196089	NM_031486.4(ZNF484):c.724C>G (p.Gln242Glu)	ZNF484 (Q242E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196088	NM_031486.4(ZNF484):c.539C>T (p.Ser180Leu)	ZNF484 (S197L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196087	NM_031486.4(ZNF484):c.2290C>T (p.His764Tyr)	ZNF484 (H728Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196086	NM_031486.4(ZNF484):c.2237A>G (p.Lys746Arg)	ZNF484 (K748R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196085	NM_031486.4(ZNF484):c.2186T>C (p.Phe729Ser)	ZNF484 (F729S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196084	NM_031486.4(ZNF484):c.200T>G (p.Met67Arg)	ZNF484 (M84R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196083	NM_031486.4(ZNF484):c.1041G>C (p.Gln347His)	ZNF484 (Q349H +3 more)	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 2621155	NM_031486.4(ZNF484):c.2408C>T (p.Pro803Leu)	ZNF484 (P803L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607410	NM_031486.4(ZNF484):c.1285A>G (p.Thr429Ala)	ZNF484 (T429A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606465	NM_031486.4(ZNF484):c.848A>T (p.Glu283Val)	ZNF484 (E300V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601540	NM_031486.4(ZNF484):c.830A>G (p.Lys277Arg)	ZNF484 (K241R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599211	NM_031486.4(ZNF484):c.1379G>A (p.Arg460Gln)	ZNF484 (R460Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598221	NM_031486.4(ZNF484):c.230G>A (p.Arg77His)	ZNF484 (R41H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590341	NM_031486.4(ZNF484):c.169A>T (p.Ile57Phe)	ZNF484 (I74F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547711	NM_031486.4(ZNF484):c.1237G>A (p.Val413Ile)	ZNF484 (V377I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542829	NM_031486.4(ZNF484):c.158A>G (p.Lys53Arg)	ZNF484 (K17R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496580	NM_031486.4(ZNF484):c.1929G>C (p.Lys643Asn)	ZNF484 (K607N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488494	NM_031486.4(ZNF484):c.871A>G (p.Lys291Glu)	ZNF484 (K255E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470133	NM_031486.4(ZNF484):c.952C>G (p.Arg318Gly)	ZNF484 (R318G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467435	NM_031486.4(ZNF484):c.785C>T (p.Pro262Leu)	ZNF484 (P226L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466867	NM_031486.4(ZNF484):c.257C>T (p.Pro86Leu)	ZNF484 (P88L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461888	NM_031486.4(ZNF484):c.1742T>G (p.Val581Gly)	ZNF484 (V581G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454857	NM_031486.4(ZNF484):c.808G>A (p.Glu270Lys)	ZNF484 (E270K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412275	NM_031486.4(ZNF484):c.2327A>G (p.Tyr776Cys)	ZNF484 (Y740C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380950	NM_031486.4(ZNF484):c.769G>A (p.Val257Ile)	ZNF484 (V259I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374155	NM_031486.4(ZNF484):c.2125A>G (p.Met709Val)	ZNF484 (M673V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359007	NM_031486.4(ZNF484):c.273G>A (p.Met91Ile)	ZNF484 (M55I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348022	NM_031486.4(ZNF484):c.229C>T (p.Arg77Cys)	ZNF484 (R41C +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343175	NM_031486.4(ZNF484):c.2419A>G (p.Ser807Gly)	ZNF484 (S771G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319554	NM_031486.4(ZNF484):c.1704T>A (p.Ser568Arg)	ZNF484 (S568R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291929	NM_031486.4(ZNF484):c.1670G>C (p.Cys557Ser)	ZNF484 (C521S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288855	NM_031486.4(ZNF484):c.2332T>C (p.Cys778Arg)	ZNF484 (C780R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287770	NM_031486.4(ZNF484):c.749T>C (p.Leu250Pro)	ZNF484 (L250P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282983	NM_031486.4(ZNF484):c.399C>A (p.Asn133Lys)	ZNF484 (N150K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280032	NM_031486.4(ZNF484):c.1334G>C (p.Cys445Ser)	ZNF484 (C445S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274774	NM_031486.4(ZNF484):c.809A>G (p.Glu270Gly)	ZNF484 (E287G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265522	NM_031486.4(ZNF484):c.2536C>A (p.Gln846Lys)	ZNF484 (Q810K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233455	NM_031486.4(ZNF484):c.2405A>C (p.Lys802Thr)	ZNF484 (K804T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226868	NM_031486.4(ZNF484):c.2488G>C (p.Val830Leu)	ZNF484 (V832L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225639	NM_031486.4(ZNF484):c.864C>G (p.Phe288Leu)	ZNF484 (F290L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214633	NM_031486.4(ZNF484):c.245T>A (p.Ile82Asn)	ZNF484 (I46N +3 more)	Single nucleotide variant (missense variant)	not specified	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 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 152140	GRCh38/hg38 9q22.31(chr9:92874936-92909630)x3	ZNF484	Copy number gain	See cases	GLikely benign
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: 82