ClinVar for Gene (Select 9310) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335229	NM_004234.4(ZNF235):c.2078G>T (p.Ser693Ile)	ZNF235 (S693I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335228	NM_004234.4(ZNF235):c.503T>G (p.Ile168Ser)	ZNF235 (I168S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335227	NM_004234.4(ZNF235):c.1536G>T (p.Glu512Asp)	ZNF235 (E508D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335226	NM_004234.4(ZNF235):c.748C>T (p.Pro250Ser)	ZNF235 (P246S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335225	NM_004234.4(ZNF235):c.1774G>A (p.Val592Ile)	ZNF235 (V592I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194611	NM_004234.4(ZNF235):c.938G>A (p.Arg313His)	ZNF235 (R309H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194610	NM_004234.4(ZNF235):c.875C>T (p.Ala292Val)	ZNF235 (A288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194609	NM_004234.4(ZNF235):c.83C>A (p.Ala28Asp)	ZNF235 (A28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194608	NM_004234.4(ZNF235):c.671A>G (p.His224Arg)	ZNF235 (H224R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194607	NM_004234.4(ZNF235):c.469T>A (p.Cys157Ser)	ZNF235 (C153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194606	NM_004234.4(ZNF235):c.259A>G (p.Met87Val)	ZNF235 (M83V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194605	NM_004234.4(ZNF235):c.151T>C (p.Ser51Pro)	ZNF235 (S51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194604	NM_004234.4(ZNF235):c.1514A>G (p.His505Arg)	ZNF235 (H501R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194603	NM_004234.4(ZNF235):c.150G>T (p.Gln50His)	ZNF235 (Q50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194602	NM_004234.4(ZNF235):c.1292A>G (p.Tyr431Cys)	ZNF235 (Y427C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620750	NM_004234.4(ZNF235):c.1331C>T (p.Ser444Leu)	ZNF235 (S440L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596255	NM_004234.4(ZNF235):c.296C>T (p.Ser99Leu)	ZNF235 (S95L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590722	NM_004234.4(ZNF235):c.1135A>G (p.Ser379Gly)	ZNF235 (S375G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588893	NM_004234.4(ZNF235):c.350C>G (p.Ala117Gly)	ZNF235 (A113G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588891	NM_004234.4(ZNF235):c.1270A>G (p.Ile424Val)	ZNF235 (I424V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543533	NM_004234.4(ZNF235):c.793G>T (p.Gly265Cys)	ZNF235 (G265C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511055	NM_004234.4(ZNF235):c.1483G>C (p.Gly495Arg)	ZNF235 (G495R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469285	NM_004234.4(ZNF235):c.1736G>T (p.Gly579Val)	ZNF235 (G575V +1 more)	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 2409043	NM_004234.4(ZNF235):c.937C>T (p.Arg313Cys)	ZNF235 (R313C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399160	NM_004234.4(ZNF235):c.1700G>C (p.Gly567Ala)	ZNF235 (G563A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396155	NM_004234.4(ZNF235):c.1975G>A (p.Glu659Lys)	ZNF235 (E655K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382898	NM_004234.4(ZNF235):c.1315C>T (p.Arg439Cys)	ZNF235 (R435C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380068	NM_004234.4(ZNF235):c.2099C>T (p.Thr700Ile)	ZNF235 (T696I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374655	NM_004234.4(ZNF235):c.506T>C (p.Ile169Thr)	ZNF235 (I165T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357602	NM_004234.4(ZNF235):c.1102A>G (p.Ile368Val)	ZNF235 (I368V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352475	NM_004234.4(ZNF235):c.230A>T (p.Lys77Met)	ZNF235 (K77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323415	NM_004234.4(ZNF235):c.539C>T (p.Pro180Leu)	ZNF235 (P176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313444	NM_004234.4(ZNF235):c.439G>C (p.Glu147Gln)	ZNF235 (E147Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305923	NM_004234.4(ZNF235):c.2061G>C (p.Gln687His)	ZNF235 (Q683H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305574	NM_004234.4(ZNF235):c.674A>G (p.Asp225Gly)	ZNF235 (D221G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298316	NM_004234.4(ZNF235):c.470G>C (p.Cys157Ser)	ZNF235 (C153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269824	NM_004234.4(ZNF235):c.2152A>G (p.Lys718Glu)	ZNF235 (K718E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264025	NM_004234.4(ZNF235):c.14A>G (p.Gln5Arg)	ZNF235 (Q5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242740	NM_004234.4(ZNF235):c.1157G>A (p.Arg386His)	ZNF235 (R386H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223654	NM_004234.4(ZNF235):c.1340A>G (p.His447Arg)	ZNF235 (H447R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
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

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Links from Gene

Items: 51