ZNF285[gene] - ClinVar

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Items: 62

	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 2399390	NM_152354.6(ZNF285):c.1751A>G (p.His584Arg)	ZNF285 (H584R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261313	NM_152354.6(ZNF285):c.1730T>C (p.Leu577Pro)	ZNF285 (L584P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650080	NM_152354.6(ZNF285):c.1722A>G (p.Gly574=)	ZNF285	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3194939	NM_152354.6(ZNF285):c.1582A>G (p.Asn528Asp)	ZNF285 (N528D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341503	NM_152354.6(ZNF285):c.1520T>C (p.Ile507Thr)	ZNF285 (I507T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335376	NM_152354.6(ZNF285):c.1508A>G (p.Gln503Arg)	ZNF285 (Q503R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205224	NM_152354.6(ZNF285):c.1463T>G (p.Val488Gly)	ZNF285 (V488G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515432	NM_152354.6(ZNF285):c.1459G>A (p.Glu487Lys)	ZNF285 (E494K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335025	NM_152354.6(ZNF285):c.1433A>C (p.His478Pro)	ZNF285 (H478P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335381	NM_152354.6(ZNF285):c.1427G>T (p.Arg476Ile)	ZNF285 (R476I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335380	NM_152354.6(ZNF285):c.1403G>C (p.Ser468Thr)	ZNF285 (S475T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410417	NM_152354.6(ZNF285):c.1291G>A (p.Gly431Ser)	ZNF285 (G276S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618053	NM_152354.6(ZNF285):c.1264C>G (p.His422Asp)	ZNF285 (H267D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519085	NM_152354.6(ZNF285):c.1226T>G (p.Phe409Cys)	ZNF285 (F409C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255002	NM_152354.6(ZNF285):c.1196C>T (p.Pro399Leu)	ZNF285 (P244L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262999	NM_152354.6(ZNF285):c.1189G>A (p.Glu397Lys)	ZNF285 (E397K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388906	NM_152354.6(ZNF285):c.1149G>C (p.Gln383His)	ZNF285 (Q383H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491171	NM_152354.6(ZNF285):c.1139G>C (p.Gly380Ala)	ZNF285 (G225A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194938	NM_152354.6(ZNF285):c.1133G>C (p.Gly378Ala)	ZNF285 (G385A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538166	NM_152354.6(ZNF285):c.1076T>C (p.Leu359Pro)	ZNF285 (L204P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331565	NM_152354.6(ZNF285):c.1043A>C (p.Glu348Ala)	ZNF285 (E348A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326513	NM_152354.6(ZNF285):c.1043A>T (p.Glu348Val)	ZNF285 (E193V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457628	NM_152354.6(ZNF285):c.1042G>A (p.Glu348Lys)	ZNF285 (E193K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384661	NM_152354.6(ZNF285):c.1039G>A (p.Asp347Asn)	ZNF285 (D192N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217214	NM_152354.6(ZNF285):c.1031A>G (p.Tyr344Cys)	ZNF285 (Y189C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194937	NM_152354.6(ZNF285):c.1006C>G (p.Arg336Gly)	ZNF285 (R343G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194950	NM_152354.6(ZNF285):c.984C>G (p.Ser328Arg)	ZNF285 (S328R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327496	NM_152354.6(ZNF285):c.983G>A (p.Ser328Asn)	ZNF285 (S328N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335377	NM_152354.6(ZNF285):c.958G>C (p.Glu320Gln)	ZNF285 (E165Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194949	NM_152354.6(ZNF285):c.904G>T (p.Asp302Tyr)	ZNF285 (D309Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194948	NM_152354.6(ZNF285):c.904G>C (p.Asp302His)	ZNF285 (D147H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194947	NM_152354.6(ZNF285):c.880C>T (p.Pro294Ser)	ZNF285 (P294S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490744	NM_152354.6(ZNF285):c.744T>G (p.His248Gln)	ZNF285 (H255Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194946	NM_152354.6(ZNF285):c.718G>C (p.Ala240Pro)	ZNF285 (A240P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335378	NM_152354.6(ZNF285):c.697C>T (p.Pro233Ser)	ZNF285 (P240S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473234	NM_152354.6(ZNF285):c.697C>A (p.Pro233Thr)	ZNF285 (P233T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194945	NM_152354.6(ZNF285):c.628G>A (p.Gly210Arg)	ZNF285 (G217R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194944	NM_152354.6(ZNF285):c.579T>A (p.His193Gln)	ZNF285 (H200Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335379	NM_152354.6(ZNF285):c.542A>G (p.His181Arg)	ZNF285 (H181R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194943	NM_152354.6(ZNF285):c.526T>C (p.Tyr176His)	ZNF285 (Y183H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613887	NM_152354.6(ZNF285):c.526T>G (p.Tyr176Asp)	ZNF285 (Y176D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194942	NM_152354.6(ZNF285):c.517G>A (p.Glu173Lys)	ZNF285 (E173K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221763	NM_152354.6(ZNF285):c.415C>A (p.Gln139Lys)	ZNF285 (Q146K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290532	NM_152354.6(ZNF285):c.405C>G (p.Ile135Met)	ZNF285 (I142M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194941	NM_152354.6(ZNF285):c.401A>G (p.Asp134Gly)	ZNF285 (D134G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255997	NM_152354.6(ZNF285):c.301C>A (p.His101Asn)	ZNF285 (H101N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598175	NM_152354.6(ZNF285):c.292T>G (p.Cys98Gly)	ZNF285 (C105G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335382	NM_152354.6(ZNF285):c.257T>G (p.Val86Gly)	ZNF285 (V86G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194940	NM_152354.6(ZNF285):c.230G>C (p.Trp77Ser)	ZNF285 (W77S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364778	NM_152354.6(ZNF285):c.179C>A (p.Ala60Glu)	ZNF285 (A67E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2681664	NM_152354.6(ZNF285):c.82G>T (p.Ala28Ser)	ZNF285 (A28S +1 more)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2207341	NM_152354.6(ZNF285):c.49T>C (p.Phe17Leu)	ZNF285 (F17L +1 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: 62