ClinVar for Gene (Select 158431) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 107

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3478434	NM_001001662.3(ZNF782):c.543C>A (p.Asn181Lys)	ZNF782 (N181K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478433	NM_001001662.3(ZNF782):c.1816A>G (p.Arg606Gly)	ZNF782 (R474G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478432	NM_001001662.3(ZNF782):c.1364G>A (p.Cys455Tyr)	ZNF782 (C323Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478431	NM_001001662.3(ZNF782):c.1963T>G (p.Phe655Val)	ZNF782 (F523V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478430	NM_001001662.3(ZNF782):c.662G>A (p.Arg221Lys)	ZNF782 (R221K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478429	NM_001001662.3(ZNF782):c.234G>T (p.Arg78Ser)	ZNF782 (R54S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3478428	NM_001001662.3(ZNF782):c.1613A>C (p.Gln538Pro)	ZNF782 (Q514P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478427	NM_001001662.3(ZNF782):c.149G>A (p.Cys50Tyr)	ZNF782 (C26Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3478426	NM_001001662.3(ZNF782):c.502T>C (p.Cys168Arg)	ZNF782 (C144R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478425	NM_001001662.3(ZNF782):c.440G>T (p.Gly147Val)	ZNF782 (G147V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478424	NM_001001662.3(ZNF782):c.805A>T (p.Ser269Cys)	ZNF782 (S137C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478423	NM_001001662.3(ZNF782):c.1490G>A (p.Arg497Gln)	ZNF782 (R365Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478422	NM_001001662.3(ZNF782):c.1853A>G (p.Tyr618Cys)	ZNF782 (Y486C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478421	NM_001001662.3(ZNF782):c.511T>C (p.Trp171Arg)	ZNF782 (W171R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478420	NM_001001662.3(ZNF782):c.2089C>T (p.Pro697Ser)	ZNF782 (P565S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478419	NM_001001662.3(ZNF782):c.1987G>A (p.Val663Ile)	ZNF782 (V531I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3478418	NM_001001662.3(ZNF782):c.73A>G (p.Met25Val)	ZNF782 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3408976	NM_001170741.3(NUTM2G):c.615T>G (p.Ser205Arg)	NUTM2G, ZNF782 (S205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408970	NM_001170741.3(NUTM2G):c.691G>A (p.Glu231Lys)	NUTM2G, ZNF782 (E231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408969	NM_001170741.3(NUTM2G):c.590C>G (p.Pro197Arg)	NUTM2G, ZNF782 (P197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408967	NM_001170741.3(NUTM2G):c.200G>A (p.Gly67Glu)	NUTM2G, ZNF782 (G67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408964	NM_001170741.3(NUTM2G):c.565G>A (p.Ala189Thr)	NUTM2G, ZNF782 (A189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301658	NM_001170741.3(NUTM2G):c.632G>A (p.Arg211Gln)	NUTM2G, ZNF782 (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259547	NM_001001662.3(ZNF782):c.1464C>A (p.Ser488Arg)	ZNF782 (S356R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259546	NM_001001662.3(ZNF782):c.1652G>A (p.Gly551Glu)	ZNF782 (G551E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259545	NM_001001662.3(ZNF782):c.1868G>T (p.Cys623Phe)	ZNF782 (C599F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259544	NM_001001662.3(ZNF782):c.1250C>T (p.Thr417Met)	ZNF782 (T285M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203394	NM_001170741.3(NUTM2G):c.65T>C (p.Leu22Pro)	NUTM2G, ZNF782 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203393	NM_001170741.3(NUTM2G):c.595G>A (p.Asp199Asn)	NUTM2G, ZNF782 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203392	NM_001170741.3(NUTM2G):c.515C>T (p.Pro172Leu)	NUTM2G, ZNF782 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203391	NM_001170741.3(NUTM2G):c.403G>A (p.Val135Ile)	NUTM2G, ZNF782 (V135I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203390	NM_001170741.3(NUTM2G):c.275T>C (p.Val92Ala)	NUTM2G, ZNF782 (V92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198352	NM_001001662.3(ZNF782):c.69G>C (p.Gln23His)	ZNF782 (Q23H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198351	NM_001001662.3(ZNF782):c.622A>G (p.Ile208Val)	ZNF782 (I76V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198350	NM_001001662.3(ZNF782):c.499G>A (p.Val167Ile)	ZNF782 (V167I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198349	NM_001001662.3(ZNF782):c.438G>C (p.Gln146His)	ZNF782 (Q146H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198346	NM_001001662.3(ZNF782):c.1510A>G (p.Arg504Gly)	ZNF782 (R372G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198345	NM_001001662.3(ZNF782):c.1382A>G (p.Tyr461Cys)	ZNF782 (Y329C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198344	NM_001001662.3(ZNF782):c.1318C>T (p.His440Tyr)	ZNF782 (H308Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198343	NM_001001662.3(ZNF782):c.1211G>A (p.Ser404Asn)	ZNF782 (S272N +2 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 2619677	NM_001170741.3(NUTM2G):c.607C>T (p.Pro203Ser)	NUTM2G, ZNF782 (P203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617433	NM_001001662.3(ZNF782):c.237C>G (p.Asn79Lys)	ZNF782 (N79K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616126	NM_001170741.3(NUTM2G):c.151G>T (p.Ala51Ser)	NUTM2G, ZNF782 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611384	NM_001001662.3(ZNF782):c.1391T>A (p.Ile464Asn)	ZNF782 (I440N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604601	NM_001001662.3(ZNF782):c.381C>G (p.Asn127Lys)	ZNF782 (N103K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590287	NM_001001662.3(ZNF782):c.1223G>A (p.Arg408His)	ZNF782 (R408H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589022	NM_001170741.3(NUTM2G):c.508G>A (p.Val170Met)	NUTM2G, ZNF782 (V170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588481	NM_001001662.3(ZNF782):c.1766C>G (p.Pro589Arg)	ZNF782 (P589R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535373	NM_001001662.3(ZNF782):c.1578A>T (p.Arg526Ser)	ZNF782 (R502S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527863	NM_001001662.3(ZNF782):c.592C>T (p.His198Tyr)	ZNF782 (H198Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513696	NM_001001662.3(ZNF782):c.2068A>G (p.Arg690Gly)	ZNF782 (R558G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490969	NM_001170741.3(NUTM2G):c.313G>T (p.Ala105Ser)	NUTM2G, ZNF782 (A105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478488	NM_001001662.3(ZNF782):c.427T>C (p.Ser143Pro)	ZNF782 (S11P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403548	NM_001001662.3(ZNF782):c.1390A>G (p.Ile464Val)	ZNF782 (I464V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400942	NM_001170741.3(NUTM2G):c.353G>A (p.Gly118Asp)	NUTM2G, ZNF782 (G118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378737	NM_001001662.3(ZNF782):c.1321C>G (p.Gln441Glu)	ZNF782 (Q309E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372770	NM_001001662.3(ZNF782):c.422C>T (p.Ala141Val)	ZNF782 (A9V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361037	NM_001001662.3(ZNF782):c.475A>G (p.Lys159Glu)	ZNF782 (K135E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352077	NM_001001662.3(ZNF782):c.898A>G (p.Ile300Val)	ZNF782 (I276V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348204	NM_001001662.3(ZNF782):c.701A>G (p.Asn234Ser)	ZNF782 (N102S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343157	NM_001170741.3(NUTM2G):c.37G>A (p.Gly13Ser)	NUTM2G, ZNF782 (G13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335653	NM_001001662.3(ZNF782):c.1991A>G (p.His664Arg)	ZNF782 (H664R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325361	NM_001001662.3(ZNF782):c.388C>T (p.Arg130Cys)	ZNF782 (R106C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321536	NM_001170741.3(NUTM2G):c.75C>G (p.Phe25Leu)	NUTM2G, ZNF782 (F25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317559	NM_001170741.3(NUTM2G):c.679A>G (p.Ser227Gly)	NUTM2G, ZNF782 (S227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316321	NM_001001662.3(ZNF782):c.1951T>C (p.Cys651Arg)	ZNF782 (C627R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301010	NM_001001662.3(ZNF782):c.1601A>G (p.Tyr534Cys)	ZNF782 (Y402C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259237	NM_001001662.3(ZNF782):c.1516T>C (p.Tyr506His)	ZNF782 (Y374H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248370	NM_001170741.3(NUTM2G):c.215G>C (p.Gly72Ala)	NUTM2G, ZNF782 (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209134	NM_001170741.3(NUTM2G):c.79G>A (p.Ala27Thr)	NUTM2G, ZNF782 (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207947	NM_001001662.3(ZNF782):c.1513C>T (p.Pro505Ser)	ZNF782 (P481S +2 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	GRIN3A, HABP4 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1300017	NM_001001662.3(ZNF782):c.962G>A (p.Arg321His)	ZNF782 (R189H +2 more)	Single nucleotide variant (missense variant)	Mycotic Aneurysm, Intracranial +1 more	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 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 443720	GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1	AOPEP, CCDC180 +26 more	Copy number loss	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394717	GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1	AOPEP, CDC14B +17 more	Copy number loss	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 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2