ZNF79[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 2274714	NM_007135.3(ZNF79):c.28C>T (p.Pro10Ser)	ZNF79 (P10S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324296	NM_007135.3(ZNF79):c.40C>G (p.Leu14Val)	ZNF79 (L14V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3198418	NM_007135.3(ZNF79):c.43C>T (p.Pro15Ser)	ZNF79 (P15S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3198409	NM_007135.3(ZNF79):c.103C>T (p.Arg35Trp)	ZNF79 (R11W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198413	NM_007135.3(ZNF79):c.131C>T (p.Thr44Met)	ZNF79 (T20M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402381	NM_007135.3(ZNF79):c.137C>G (p.Ala46Gly)	ZNF79 (A22G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267629	NM_007135.3(ZNF79):c.203C>G (p.Pro68Arg)	ZNF79 (P68R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231766	NM_007135.3(ZNF79):c.286G>T (p.Ala96Ser)	ZNF79 (A96S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381080	NM_007135.3(ZNF79):c.298G>A (p.Glu100Lys)	ZNF79 (E76K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225108	NM_007135.3(ZNF79):c.304G>A (p.Glu102Lys)	ZNF79 (E102K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298690	NM_007135.3(ZNF79):c.305A>C (p.Glu102Ala)	ZNF79 (E102A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227588	NM_007135.3(ZNF79):c.314G>A (p.Arg105Gln)	ZNF79 (R105Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309674	NM_007135.3(ZNF79):c.320C>T (p.Pro107Leu)	ZNF79 (P107L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338255	NM_007135.3(ZNF79):c.433A>G (p.Ser145Gly)	ZNF79 (S11G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198419	NM_007135.3(ZNF79):c.454A>T (p.Asn152Tyr)	ZNF79 (N18Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259568	NM_007135.3(ZNF79):c.455A>G (p.Asn152Ser)	ZNF79 (N152S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198420	NM_007135.3(ZNF79):c.463C>A (p.Pro155Thr)	ZNF79 (P155T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252858	NM_007135.3(ZNF79):c.473C>G (p.Ser158Cys)	ZNF79 (S134C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259567	NM_007135.3(ZNF79):c.509G>A (p.Arg170His)	ZNF79 (R36H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411002	NM_007135.3(ZNF79):c.515G>A (p.Cys172Tyr)	ZNF79 (C148Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358960	NM_007135.3(ZNF79):c.545C>T (p.Ser182Leu)	ZNF79 (S48L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198421	NM_007135.3(ZNF79):c.629A>T (p.Gln210Leu)	ZNF79 (Q186L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311452	NM_007135.3(ZNF79):c.670A>G (p.Ser224Gly)	ZNF79 (S90G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198422	NM_007135.3(ZNF79):c.743C>A (p.Pro248His)	ZNF79 (P224H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304360	NM_007135.3(ZNF79):c.815C>G (p.Thr272Ser)	ZNF79 (T248S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386153	NM_007135.3(ZNF79):c.841G>A (p.Glu281Lys)	ZNF79 (E281K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261749	NM_007135.3(ZNF79):c.850A>G (p.Lys284Glu)	ZNF79 (K150E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198423	NM_007135.3(ZNF79):c.871G>A (p.Ala291Thr)	ZNF79 (A291T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198424	NM_007135.3(ZNF79):c.932G>A (p.Gly311Glu)	ZNF79 (G287E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198410	NM_007135.3(ZNF79):c.1042T>A (p.Phe348Ile)	ZNF79 (F214I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198411	NM_007135.3(ZNF79):c.1111A>T (p.Ser371Cys)	ZNF79 (S347C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470737	NM_007135.3(ZNF79):c.1141A>G (p.Arg381Gly)	ZNF79 (R381G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198412	NM_007135.3(ZNF79):c.1177G>A (p.Glu393Lys)	ZNF79 (E259K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551249	NM_007135.3(ZNF79):c.1190C>G (p.Ala397Gly)	ZNF79 (A397G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373311	NM_007135.3(ZNF79):c.1225A>G (p.Lys409Glu)	ZNF79 (K275E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469883	NM_007135.3(ZNF79):c.1237G>A (p.Gly413Arg)	ZNF79 (G413R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331946	NM_007135.3(ZNF79):c.1246C>T (p.Pro416Ser)	ZNF79 (P282S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259571	NM_007135.3(ZNF79):c.1289C>T (p.Ser430Leu)	ZNF79 (S406L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472068	NM_007135.3(ZNF79):c.1300C>T (p.Arg434Trp)	ZNF79 (R410W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259570	NM_007135.3(ZNF79):c.1316A>T (p.His439Leu)	ZNF79 (H439L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198414	NM_007135.3(ZNF79):c.1397T>C (p.Ile466Thr)	ZNF79 (I442T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198415	NM_007135.3(ZNF79):c.1408G>A (p.Val470Met)	ZNF79 (V336M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259569	NM_007135.3(ZNF79):c.1447C>T (p.Arg483Trp)	ZNF79 (R349W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198416	NM_007135.3(ZNF79):c.1448G>A (p.Arg483Gln)	ZNF79 (R459Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384281	NM_007135.3(ZNF79):c.1475A>C (p.Gln492Pro)	ZNF79 (Q468P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517134	NM_007135.3(ZNF79):c.1486G>A (p.Ala496Thr)	ZNF79 (A362T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, ANGPTL2 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
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 563619	GRCh37/hg19 9q33.3-34.11(chr9:130000337-130310336)x3	GARNL3, ZNF79 +4 more	Copy number gain	not provided	GLikely benign
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 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 393881	GRCh37/hg19 9q33.3(chr9:130190914-130222160)x3	LRSAM1, RPL12 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 79