ZNF112[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 3334896	NM_013380.4(ZNF112):c.2484A>T (p.Lys828Asn)	ZNF112 (K851N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508414	NM_013380.4(ZNF112):c.2479T>C (p.Tyr827His)	ZNF112 (Y827H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334898	NM_013380.4(ZNF112):c.2417A>C (p.Lys806Thr)	ZNF112 (K806T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406733	NM_013380.4(ZNF112):c.2393C>G (p.Pro798Arg)	ZNF112 (P737R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255001	NM_013380.4(ZNF112):c.2372G>A (p.Arg791Lys)	ZNF112 (R730K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193932	NM_013380.4(ZNF112):c.2354G>A (p.Arg785His)	ZNF112 (R785H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528986	NM_013380.4(ZNF112):c.2353C>T (p.Arg785Cys)	ZNF112 (R724C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193931	NM_013380.4(ZNF112):c.2351C>T (p.Ser784Leu)	ZNF112 (S723L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193930	NM_013380.4(ZNF112):c.2330C>G (p.Thr777Arg)	ZNF112 (T783R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334894	NM_013380.4(ZNF112):c.2285G>A (p.Arg762Gln)	ZNF112 (R701Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262660	NM_013380.4(ZNF112):c.2284C>T (p.Arg762Trp)	ZNF112 (R785W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769019	NM_013380.4(ZNF112):c.2226G>A (p.Pro742=)	ZNF112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2255266	NM_013380.4(ZNF112):c.2201A>G (p.Gln734Arg)	ZNF112 (Q673R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334892	NM_013380.4(ZNF112):c.2119A>C (p.Ser707Arg)	ZNF112 (S707R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303549	NM_013380.4(ZNF112):c.2084G>A (p.Ser695Asn)	ZNF112 (S701N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334897	NM_013380.4(ZNF112):c.2015C>T (p.Ser672Leu)	ZNF112 (S695L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193929	NM_013380.4(ZNF112):c.2002T>G (p.Phe668Val)	ZNF112 (F607V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384034	NM_013380.4(ZNF112):c.1648G>A (p.Glu550Lys)	ZNF112 (E550K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254231	NM_013380.4(ZNF112):c.1516C>T (p.Leu506Phe)	ZNF112 (L506F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467469	NM_013380.4(ZNF112):c.1456A>C (p.Ile486Leu)	ZNF112 (I492L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600856	NM_013380.4(ZNF112):c.1400G>A (p.Arg467His)	ZNF112 (R473H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402930	NM_013380.4(ZNF112):c.1399C>T (p.Arg467Cys)	ZNF112 (R467C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91928	NM_013380.4(ZNF112):c.1369A>G (p.Ile457Val)	ZNF112 (I463V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334893	NM_013380.4(ZNF112):c.1328G>A (p.Gly443Asp)	ZNF112 (G382D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553472	NM_013380.4(ZNF112):c.1267A>T (p.Asn423Tyr)	ZNF112 (N362Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257127	NM_013380.4(ZNF112):c.1240T>C (p.Tyr414His)	ZNF112 (Y414H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308718	NM_013380.4(ZNF112):c.1196A>G (p.His399Arg)	ZNF112 (H405R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193928	NM_013380.4(ZNF112):c.1178G>A (p.Ser393Asn)	ZNF112 (S393N +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769020	NM_013380.4(ZNF112):c.1148A>T (p.Tyr383Phe)	ZNF112 (Y383F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3334895	NM_013380.4(ZNF112):c.1112T>A (p.Ile371Asn)	ZNF112 (I310N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193927	NM_013380.4(ZNF112):c.1101C>A (p.Asp367Glu)	ZNF112 (D306E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259785	NM_013380.4(ZNF112):c.1075G>A (p.Glu359Lys)	ZNF112 (E359K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278641	NM_013380.4(ZNF112):c.1046G>A (p.Gly349Asp)	ZNF112 (G355D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248233	NM_013380.4(ZNF112):c.932A>G (p.His311Arg)	ZNF112 (H250R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340359	NM_013380.4(ZNF112):c.931C>T (p.His311Tyr)	ZNF112 (H317Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233817	NM_013380.4(ZNF112):c.920T>C (p.Ile307Thr)	ZNF112 (I307T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193939	NM_013380.4(ZNF112):c.860A>G (p.Lys287Arg)	ZNF112 (K293R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588894	NM_013380.4(ZNF112):c.709G>T (p.Val237Leu)	ZNF112 (V237L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193938	NM_013380.4(ZNF112):c.703A>G (p.Met235Val)	ZNF112 (M235V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193937	NM_013380.4(ZNF112):c.692G>A (p.Gly231Glu)	ZNF112 (G237E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193936	NM_013380.4(ZNF112):c.670A>T (p.Asn224Tyr)	ZNF112 (N163Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519839	NM_013380.4(ZNF112):c.605G>C (p.Cys202Ser)	ZNF112 (C225S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313072	NM_013380.4(ZNF112):c.536A>G (p.Lys179Arg)	ZNF112 (K179R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463991	NM_013380.4(ZNF112):c.491A>C (p.Lys164Thr)	ZNF112 (K103T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223763	NM_013380.4(ZNF112):c.470G>C (p.Gly157Ala)	ZNF112 (G180A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277294	NM_013380.4(ZNF112):c.424C>A (p.Pro142Thr)	ZNF112 (P165T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409779	NM_013380.4(ZNF112):c.422T>C (p.Ile141Thr)	ZNF112 (I141T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193934	NM_013380.4(ZNF112):c.336G>T (p.Arg112Ser)	ZNF112 (R118S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348495	NM_013380.4(ZNF112):c.298C>T (p.Arg100Cys)	ZNF112 (R123C +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193933	NM_013380.4(ZNF112):c.262A>G (p.Thr88Ala)	ZNF112 (T27A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214130	NM_013380.4(ZNF112):c.241A>G (p.Met81Val)	ZNF112 (M104V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298023	NM_013380.4(ZNF112):c.86A>G (p.Asp29Gly)	ZNF112 (D35G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239050	NM_013380.4(ZNF112):c.70A>G (p.Arg24Gly)	ZNF112 (R30G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193935	NM_013380.4(ZNF112):c.32T>C (p.Phe11Ser)	ZNF112 (F17S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514151	NM_013380.4(ZNF112):c.4G>A (p.Val2Met)	ZNF112 (V25M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 221402	GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1	CEACAM20, ZNF112 +16 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221352	chr19:44501518-45322744 complex variant	BCAM, BCL3 +22 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65