ZNF404[gene] - ClinVar

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Items: 47

	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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2597182	NM_001033719.3(ZNF404):c.1640G>C (p.Gly547Ala)	ZNF404 (G547A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350866	NM_001033719.3(ZNF404):c.1517G>A (p.Arg506His)	ZNF404 (R506H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335656	NM_001033719.3(ZNF404):c.1507G>A (p.Ala503Thr)	ZNF404 (A503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310215	NM_001033719.3(ZNF404):c.1430G>A (p.Arg477His)	ZNF404 (R477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195529	NM_001033719.3(ZNF404):c.1249G>C (p.Gly417Arg)	ZNF404 (G417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195528	NM_001033719.3(ZNF404):c.1210A>T (p.Ile404Phe)	ZNF404 (I404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490637	NM_001033719.3(ZNF404):c.1207A>G (p.Ile403Val)	ZNF404 (I403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195527	NM_001033719.3(ZNF404):c.1136G>T (p.Gly379Val)	ZNF404 (G379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338810	NM_001033719.3(ZNF404):c.986G>A (p.Cys329Tyr)	ZNF404 (C329Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226189	NM_001033719.3(ZNF404):c.959G>A (p.Ser320Asn)	ZNF404 (S320N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195533	NM_001033719.3(ZNF404):c.857T>C (p.Leu286Pro)	ZNF404 (L286P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346388	NM_001033719.3(ZNF404):c.847C>T (p.Arg283Cys)	ZNF404 (R283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220417	NM_001033719.3(ZNF404):c.835G>C (p.Ala279Pro)	ZNF404 (A279P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335654	NM_001033719.3(ZNF404):c.773T>C (p.Met258Thr)	ZNF404 (M258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650073	NM_001033719.3(ZNF404):c.753G>A (p.Thr251=)	ZNF404	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569655	NM_001033719.3(ZNF404):c.710A>C (p.His237Pro)	ZNF404 (H237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270128	NM_001033719.3(ZNF404):c.677G>A (p.Arg226His)	ZNF404 (R226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528951	NM_001033719.3(ZNF404):c.668C>A (p.Ala223Asp)	ZNF404 (A223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304844	NM_001033719.3(ZNF404):c.661G>A (p.Gly221Arg)	ZNF404 (G221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195532	NM_001033719.3(ZNF404):c.629C>G (p.Thr210Ser)	ZNF404 (T210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351930	NM_001033719.3(ZNF404):c.628A>C (p.Thr210Pro)	ZNF404 (T210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650074	NM_001033719.3(ZNF404):c.627T>C (p.His209=)	ZNF404	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542698	NM_001033719.3(ZNF404):c.625C>T (p.His209Tyr)	ZNF404 (H209Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209477	NM_001033719.3(ZNF404):c.566G>A (p.Cys189Tyr)	ZNF404 (C189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311448	NM_001033719.3(ZNF404):c.541C>T (p.His181Tyr)	ZNF404 (H181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210172	NM_001033719.3(ZNF404):c.533G>A (p.Arg178Gln)	ZNF404 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378326	NM_001033719.3(ZNF404):c.503T>G (p.Phe168Cys)	ZNF404 (F168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335657	NM_001033719.3(ZNF404):c.439A>G (p.Thr147Ala)	ZNF404 (T147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195531	NM_001033719.3(ZNF404):c.407A>G (p.Tyr136Cys)	ZNF404 (Y136C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335655	NM_001033719.3(ZNF404):c.405A>C (p.Glu135Asp)	ZNF404 (E135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314385	NM_001033719.3(ZNF404):c.376A>G (p.Thr126Ala)	ZNF404 (T126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777497	NM_001033719.3(ZNF404):c.375C>T (p.Asn125=)	ZNF404	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538725	NM_001033719.3(ZNF404):c.361C>T (p.His121Tyr)	ZNF404 (H121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225650	NM_001033719.3(ZNF404):c.290G>A (p.Gly97Glu)	ZNF404 (G97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220496	NM_001033719.3(ZNF404):c.213G>C (p.Glu71Asp)	ZNF404 (E71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371931	NM_001033719.3(ZNF404):c.159C>G (p.Ser53Arg)	ZNF404 (S53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784400	NM_001033719.3(ZNF404):c.137-7C>A	ZNF404	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3195530	NM_001033719.3(ZNF404):c.135G>T (p.Leu45Phe)	ZNF404 (L45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335653	NM_001033719.3(ZNF404):c.28G>A (p.Asp10Asn)	ZNF404 (D10N)	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 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

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Items: 47