ClinVar for Gene (Select 7771) - ClinVar

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

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
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 769019	NM_013380.4(ZNF112):c.2226G>A (p.Pro742=)	ZNF112	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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 91928	NM_013380.4(ZNF112):c.1369A>G (p.Ile457Val)	ZNF112 (I463V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65