ClinVar for Gene (Select 7768) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067260	NM_013362.4(ZNF225):c.1364C>G (p.Pro455Arg)	ZNF225 (P455R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650076	NM_013362.4(ZNF225):c.15+7A>G	ZNF225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2590208	NM_013362.4(ZNF225):c.1736G>A (p.Arg579Gln)	ZNF225 (R579Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2560718	NM_013362.4(ZNF225):c.218A>G (p.Gln73Arg)	ZNF225 (Q73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557993	NM_013362.4(ZNF225):c.1597G>C (p.Val533Leu)	ZNF225 (V533L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557355	NM_013362.4(ZNF225):c.146A>G (p.His49Arg)	ZNF225 (H49R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555386	NM_013362.4(ZNF225):c.1688C>G (p.Thr563Ser)	ZNF225 (T563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547486	NM_013362.4(ZNF225):c.2024G>A (p.Ser675Asn)	ZNF225 (S675N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537160	NM_013362.4(ZNF225):c.641A>T (p.Asn214Ile)	ZNF225 (N214I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479411	NM_013362.4(ZNF225):c.1879G>A (p.Glu627Lys)	ZNF225 (E627K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457526	NM_013362.4(ZNF225):c.2090C>T (p.Thr697Met)	ZNF225 (T697M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 2411265	NM_013362.4(ZNF225):c.935G>A (p.Arg312Gln)	ZNF225 (R312Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2410754	NM_013362.4(ZNF225):c.1157G>A (p.Gly386Asp)	ZNF225 (G386D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393981	NM_013362.4(ZNF225):c.1132G>A (p.Gly378Arg)	ZNF225 (G378R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381668	NM_013362.4(ZNF225):c.427G>A (p.Val143Ile)	ZNF225 (V143I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381221	NM_013362.4(ZNF225):c.19G>A (p.Ala7Thr)	ZNF225 (A7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2374125	NM_013362.4(ZNF225):c.353T>C (p.Met118Thr)	ZNF225 (M118T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369995	NM_013362.4(ZNF225):c.899G>C (p.Arg300Thr)	ZNF225 (R300T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356549	NM_013362.4(ZNF225):c.1243C>T (p.Arg415Cys)	ZNF225 (R415C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356491	NM_013362.4(ZNF225):c.490G>C (p.Asp164His)	ZNF225 (D164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337228	NM_013362.4(ZNF225):c.653A>G (p.His218Arg)	ZNF225 (H218R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335972	NM_013362.4(ZNF225):c.1262C>G (p.Ala421Gly)	ZNF225 (A421G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325941	NM_013362.4(ZNF225):c.1276A>G (p.Lys426Glu)	ZNF225 (K426E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322260	NM_013362.4(ZNF225):c.271G>C (p.Glu91Gln)	ZNF225 (E91Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315154	NM_013362.4(ZNF225):c.101G>A (p.Arg34Gln)	ZNF225 (R34Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2280027	NM_013362.4(ZNF225):c.1288T>C (p.Cys430Arg)	ZNF225 (C430R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215277	NM_013362.4(ZNF225):c.1591C>T (p.Arg531Cys)	ZNF225 (R531C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213980	NM_013362.4(ZNF225):c.1855A>G (p.Thr619Ala)	ZNF225 (T619A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205302	NM_013362.4(ZNF225):c.421A>T (p.Ile141Phe)	ZNF225 (I141F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 564579	GRCh37/hg19 19q13.31(chr19:44624036-44713584)x1	ZNF225, ZNF226 +1 more	Copy number loss	not provided	GUncertain significance
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40