ZFP30[gene] - ClinVar

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Items: 40

	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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 153332	GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1	LINC01535, LOC112543487 +28 more	Copy number loss	See cases	GUncertain significance
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3193116	NM_001320669.3(ZFP30):c.1541G>A (p.Arg514Gln)	ZFP30 (R513Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193115	NM_001320669.3(ZFP30):c.1523A>G (p.His508Arg)	ZFP30 (H508R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193114	NM_001320669.3(ZFP30):c.1465T>A (p.Ser489Thr)	ZFP30 (S489T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193113	NM_001320669.3(ZFP30):c.1449A>C (p.Gln483His)	ZFP30 (Q482H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193112	NM_001320669.3(ZFP30):c.1405A>G (p.Lys469Glu)	ZFP30 (K468E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193111	NM_001320669.3(ZFP30):c.1221G>T (p.Glu407Asp)	ZFP30 (E407D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317332	NM_001320669.3(ZFP30):c.1202A>G (p.Gln401Arg)	ZFP30 (Q400R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193110	NM_001320669.3(ZFP30):c.1178G>A (p.Arg393His)	ZFP30 (R392H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320989	NM_001320669.3(ZFP30):c.1049G>C (p.Gly350Ala)	ZFP30 (G349A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193109	NM_001320669.3(ZFP30):c.1046C>G (p.Thr349Ser)	ZFP30 (T348S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538277	NM_001320669.3(ZFP30):c.1028T>A (p.Leu343His)	ZFP30 (L343H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364277	NM_001320669.3(ZFP30):c.1013G>A (p.Arg338Gln)	ZFP30 (R337Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488226	NM_001320669.3(ZFP30):c.904G>C (p.Glu302Gln)	ZFP30 (E302Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531145	NM_001320669.3(ZFP30):c.860G>T (p.Arg287Leu)	ZFP30 (R286L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224819	NM_001320669.3(ZFP30):c.730T>C (p.Cys244Arg)	ZFP30 (C244R +1 more)	Single nucleotide variant (missense variant)	Cerebral visual impairment and intellectual disability	GLikely pathogenic
Select item 3193120	NM_001320669.3(ZFP30):c.721C>G (p.Pro241Ala)	ZFP30 (P241A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253455	NM_001320669.3(ZFP30):c.628T>C (p.Ser210Pro)	ZFP30 (S210P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380577	NM_001320669.3(ZFP30):c.610C>A (p.His204Asn)	ZFP30 (H204N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193119	NM_001320669.3(ZFP30):c.407T>C (p.Met136Thr)	ZFP30 (M136T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216103	NM_001320669.3(ZFP30):c.347A>G (p.Glu116Gly)	ZFP30 (E116G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193117	NM_001320669.3(ZFP30):c.205G>T (p.Val69Leu)	ZFP30 (V69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193118	NM_001320669.3(ZFP30):c.27A>T (p.Arg9Ser)	ZFP30 (R9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224686	NM_001320669.3(ZFP30):c.22T>A (p.Phe8Ile)	ZFP30 (F8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271493	NM_001320669.3(ZFP30):c.7C>T (p.Arg3Cys)	ZFP30 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 1807905	GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)x3	SIPA1L3, WDR87 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816079	GRCh37/hg19 19q13.12(chr19:37820245-38150396)x3	ZNF875, ZNF569 +6 more	Copy number gain	not provided	GLikely benign
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 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221351	chr19:36674305-38652962 complex variant	SIPA1L3, WDR87 +30 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40