ZNF229[gene] - ClinVar

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Items: 75

	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 2400761	NM_014518.4(ZNF229):c.2461G>A (p.Glu821Lys)	ZNF229 (E821K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383827	NM_014518.4(ZNF229):c.2458G>T (p.Gly820Cys)	ZNF229 (G820C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316834	NM_014518.4(ZNF229):c.2396G>A (p.Gly799Asp)	ZNF229 (G793D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2294992	NM_014518.4(ZNF229):c.2393G>A (p.Cys798Tyr)	ZNF229 (C798Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403028	NM_014518.4(ZNF229):c.2390C>T (p.Thr797Met)	ZNF229 (T797M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475338	NM_014518.4(ZNF229):c.2383C>T (p.Pro795Ser)	ZNF229 (P789S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361642	NM_014518.4(ZNF229):c.2372C>A (p.Thr791Asn)	ZNF229 (T791N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194540	NM_014518.4(ZNF229):c.2371A>T (p.Thr791Ser)	ZNF229 (T791S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507463	NM_014518.4(ZNF229):c.2347C>T (p.Leu783Phe)	ZNF229 (L783F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194539	NM_014518.4(ZNF229):c.2252A>C (p.Gln751Pro)	ZNF229 (Q745P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353533	NM_014518.4(ZNF229):c.2252A>G (p.Gln751Arg)	ZNF229 (Q745R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525439	NM_014518.4(ZNF229):c.2179C>T (p.Leu727Phe)	ZNF229 (L727F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535307	NM_014518.4(ZNF229):c.2098C>A (p.Arg700Ser)	ZNF229 (R694S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357412	NM_014518.4(ZNF229):c.2098C>T (p.Arg700Cys)	ZNF229 (R694C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194538	NM_014518.4(ZNF229):c.2090C>G (p.Ser697Cys)	ZNF229 (S691C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285217	NM_014518.4(ZNF229):c.2057G>T (p.Cys686Phe)	ZNF229 (C686F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596689	NM_014518.4(ZNF229):c.2036C>T (p.Thr679Met)	ZNF229 (T673M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337437	NM_014518.4(ZNF229):c.1963C>T (p.Pro655Ser)	ZNF229 (P655S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 546844	NM_014518.4(ZNF229):c.1895A>C (p.Glu632Ala)	ZNF229 (E626A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2561108	NM_014518.4(ZNF229):c.1849A>G (p.Ile617Val)	ZNF229 (I617V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545243	NM_014518.4(ZNF229):c.1838C>T (p.Ser613Phe)	ZNF229 (S607F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249427	NM_014518.4(ZNF229):c.1801G>A (p.Val601Met)	ZNF229 (V601M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194537	NM_014518.4(ZNF229):c.1786G>A (p.Gly596Arg)	ZNF229 (G590R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225325	NM_014518.4(ZNF229):c.1774A>G (p.Arg592Gly)	ZNF229 (R592G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305239	NM_014518.4(ZNF229):c.1747C>T (p.Arg583Trp)	ZNF229 (R577W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650081	NM_014518.4(ZNF229):c.1744C>T (p.Arg582Trp)	ZNF229 (R576W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2225107	NM_014518.4(ZNF229):c.1672G>A (p.Asp558Asn)	ZNF229 (D552N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211000	NM_014518.4(ZNF229):c.1601T>C (p.Met534Thr)	ZNF229 (M528T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2375732	NM_014518.4(ZNF229):c.1561G>A (p.Val521Met)	ZNF229 (V515M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405672	NM_014518.4(ZNF229):c.1489G>A (p.Gly497Ser)	ZNF229 (G491S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2672773	NM_014518.4(ZNF229):c.1443G>T (p.Lys481Asn)	ZNF229 (K475N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3194536	NM_014518.4(ZNF229):c.1423C>T (p.His475Tyr)	ZNF229 (H475Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389008	NM_014518.4(ZNF229):c.1390G>T (p.Gly464Cys)	ZNF229 (G464C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194535	NM_014518.4(ZNF229):c.1360A>G (p.Ile454Val)	ZNF229 (I448V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3194533	NM_014518.4(ZNF229):c.1228T>C (p.Cys410Arg)	ZNF229 (C410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622092	NM_014518.4(ZNF229):c.1153G>T (p.Ala385Ser)	ZNF229 (A379S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456493	NM_014518.4(ZNF229):c.1085C>T (p.Ser362Leu)	ZNF229 (S356L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194532	NM_014518.4(ZNF229):c.1061G>A (p.Cys354Tyr)	ZNF229 (C348Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362751	NM_014518.4(ZNF229):c.1055A>T (p.Asp352Val)	ZNF229 (D346V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270365	NM_014518.4(ZNF229):c.1050A>T (p.Arg350Ser)	ZNF229 (R344S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194531	NM_014518.4(ZNF229):c.1046A>G (p.Tyr349Cys)	ZNF229 (Y349C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246568	NM_014518.4(ZNF229):c.1043C>T (p.Pro348Leu)	ZNF229 (P348L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3194553	NM_014518.4(ZNF229):c.977G>A (p.Arg326His)	ZNF229 (R326H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239692	NM_014518.4(ZNF229):c.966G>C (p.Lys322Asn)	ZNF229 (K322N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194552	NM_014518.4(ZNF229):c.901G>A (p.Gly301Ser)	ZNF229 (G301S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194551	NM_014518.4(ZNF229):c.841C>T (p.Pro281Ser)	ZNF229 (P275S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463771	NM_014518.4(ZNF229):c.830A>T (p.Asp277Val)	ZNF229 (D271V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194550	NM_014518.4(ZNF229):c.820T>C (p.Phe274Leu)	ZNF229 (F268L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194549	NM_014518.4(ZNF229):c.775A>G (p.Asn259Asp)	ZNF229 (N253D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194548	NM_014518.4(ZNF229):c.770G>T (p.Arg257Leu)	ZNF229 (R251L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194547	NM_014518.4(ZNF229):c.725G>T (p.Cys242Phe)	ZNF229 (C242F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475599	NM_014518.4(ZNF229):c.644G>A (p.Cys215Tyr)	ZNF229 (C215Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194546	NM_014518.4(ZNF229):c.547C>T (p.Pro183Ser)	ZNF229 (P177S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194545	NM_014518.4(ZNF229):c.542C>T (p.Pro181Leu)	ZNF229 (P181L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514847	NM_014518.4(ZNF229):c.457A>C (p.Ile153Leu)	ZNF229 (I147L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525175	NM_014518.4(ZNF229):c.454C>A (p.Pro152Thr)	ZNF229 (P152T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523886	NM_014518.4(ZNF229):c.446C>T (p.Pro149Leu)	ZNF229 (P143L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194544	NM_014518.4(ZNF229):c.434G>T (p.Gly145Val)	ZNF229 (G139V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277027	NM_014518.4(ZNF229):c.344A>T (p.Glu115Val)	ZNF229 (E109V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194543	NM_014518.4(ZNF229):c.343G>A (p.Glu115Lys)	ZNF229 (E115K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194542	NM_014518.4(ZNF229):c.305A>G (p.Glu102Gly)	ZNF229 (E96G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194541	NM_014518.4(ZNF229):c.269T>A (p.Ile90Asn)	ZNF229 (I84N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293840	NM_014518.4(ZNF229):c.204G>C (p.Arg68Ser)	ZNF229 (R68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460469	NM_014518.4(ZNF229):c.115G>A (p.Val39Met)	ZNF229 (V39M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650082	NM_014518.4(ZNF229):c.2T>C (p.Met1Thr)	ZNF229 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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	ERCC2, PPP5C +121 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: 75