ZNF230[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2245251	NM_006300.4(ZNF230):c.8C>T (p.Thr3Ile)	ZNF230 (T3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604043	NM_006300.4(ZNF230):c.82G>T (p.Ala28Ser)	ZNF230 (A28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392241	NM_006300.4(ZNF230):c.82G>C (p.Ala28Pro)	ZNF230 (A28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273305	NM_006300.4(ZNF230):c.232G>A (p.Gly78Ser)	ZNF230 (G78S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621102	NM_006300.4(ZNF230):c.241A>G (p.Ile81Val)	ZNF230 (I81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2358249	NM_006300.4(ZNF230):c.266A>G (p.Asp89Gly)	ZNF230 (D89G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650075	NM_006300.4(ZNF230):c.387A>G (p.Gly129=)	ZNF230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2562943	NM_006300.4(ZNF230):c.394A>G (p.Ile132Val)	ZNF230 (I132V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240904	NM_006300.4(ZNF230):c.454G>A (p.Val152Ile)	ZNF230 (V152I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214393	NM_006300.4(ZNF230):c.550C>T (p.Arg184Cys)	ZNF230 (R184C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313145	NM_006300.4(ZNF230):c.561G>T (p.Gln187His)	ZNF230 (Q187H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592062	NM_006300.4(ZNF230):c.704G>A (p.Cys235Tyr)	ZNF230 (C235Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603295	NM_006300.4(ZNF230):c.755A>G (p.Tyr252Cys)	ZNF230 (Y252C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212374	NM_006300.4(ZNF230):c.820C>G (p.His274Asp)	ZNF230 (H274D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346288	NM_006300.4(ZNF230):c.901G>A (p.Val301Ile)	ZNF230 (V301I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377110	NM_006300.4(ZNF230):c.1067G>A (p.Arg356Gln)	ZNF230 (R356Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390810	NM_006300.4(ZNF230):c.1247G>A (p.Arg416Gln)	ZNF230 (R416Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385137	NM_006300.4(ZNF230):c.1294C>T (p.Arg432Trp)	ZNF230 (R432W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260974	NM_006300.4(ZNF230):c.1333G>A (p.Glu445Lys)	ZNF230 (E445K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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: 29