ClinVar for Gene (Select 7773) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335217	NM_006300.4(ZNF230):c.778G>A (p.Ala260Thr)	ZNF230 (A260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335216	NM_006300.4(ZNF230):c.971A>G (p.His324Arg)	ZNF230 (H324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335215	NM_006300.4(ZNF230):c.836C>T (p.Pro279Leu)	ZNF230 (P279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194568	NM_006300.4(ZNF230):c.946G>A (p.Gly316Ser)	ZNF230 (G316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194567	NM_006300.4(ZNF230):c.856G>A (p.Gly286Ser)	ZNF230 (G286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194566	NM_006300.4(ZNF230):c.761G>C (p.Cys254Ser)	ZNF230 (C254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194565	NM_006300.4(ZNF230):c.622A>T (p.Ser208Cys)	ZNF230 (S208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194564	NM_006300.4(ZNF230):c.41C>T (p.Ala14Val)	ZNF230 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194562	NM_006300.4(ZNF230):c.254G>A (p.Gly85Glu)	ZNF230 (G85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194561	NM_006300.4(ZNF230):c.20C>G (p.Ala7Gly)	ZNF230 (A7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194560	NM_006300.4(ZNF230):c.1379G>A (p.Arg460His)	ZNF230 (R460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194559	NM_006300.4(ZNF230):c.1208G>A (p.Arg403Gln)	ZNF230 (R403Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2650075	NM_006300.4(ZNF230):c.387A>G (p.Gly129=)	ZNF230	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621102	NM_006300.4(ZNF230):c.241A>G (p.Ile81Val)	ZNF230 (I81V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604043	NM_006300.4(ZNF230):c.82G>T (p.Ala28Ser)	ZNF230 (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603295	NM_006300.4(ZNF230):c.755A>G (p.Tyr252Cys)	ZNF230 (Y252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592062	NM_006300.4(ZNF230):c.704G>A (p.Cys235Tyr)	ZNF230 (C235Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562943	NM_006300.4(ZNF230):c.394A>G (p.Ile132Val)	ZNF230 (I132V)	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 2392241	NM_006300.4(ZNF230):c.82G>C (p.Ala28Pro)	ZNF230 (A28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390810	NM_006300.4(ZNF230):c.1247G>A (p.Arg416Gln)	ZNF230 (R416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385137	NM_006300.4(ZNF230):c.1294C>T (p.Arg432Trp)	ZNF230 (R432W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377110	NM_006300.4(ZNF230):c.1067G>A (p.Arg356Gln)	ZNF230 (R356Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358249	NM_006300.4(ZNF230):c.266A>G (p.Asp89Gly)	ZNF230 (D89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346288	NM_006300.4(ZNF230):c.901G>A (p.Val301Ile)	ZNF230 (V301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313145	NM_006300.4(ZNF230):c.561G>T (p.Gln187His)	ZNF230 (Q187H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273305	NM_006300.4(ZNF230):c.232G>A (p.Gly78Ser)	ZNF230 (G78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260974	NM_006300.4(ZNF230):c.1333G>A (p.Glu445Lys)	ZNF230 (E445K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245251	NM_006300.4(ZNF230):c.8C>T (p.Thr3Ile)	ZNF230 (T3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240904	NM_006300.4(ZNF230):c.454G>A (p.Val152Ile)	ZNF230 (V152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214393	NM_006300.4(ZNF230):c.550C>T (p.Arg184Cys)	ZNF230 (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212374	NM_006300.4(ZNF230):c.820C>G (p.His274Asp)	ZNF230 (H274D)	Single nucleotide variant (missense variant)	not specified	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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41