ZNF254[gene] - ClinVar

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Items: 83

	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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 154475	GRCh38/hg38 19p12(chr19:23441726-24128733)x1	LOC100505851, LOC125371498 +15 more	Copy number loss	See cases	GBenign
Select item 153616	GRCh38/hg38 19p12-11(chr19:23540844-24322835)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 152945	GRCh38/hg38 19p12(chr19:23549190-24195691)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 146715	GRCh38/hg38 19p12(chr19:23629461-24183272)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 155499	GRCh38/hg38 19p12-11(chr19:23631687-24324339)x4	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 153277	GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 150152	GRCh38/hg38 19p12(chr19:23665911-24195691)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 145634	GRCh38/hg38 19p12(chr19:23685651-24193591)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3194695	NM_203282.4(ZNF254):c.20G>A (p.Ser7Asn)	ZNF254 (S7N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2318794	NM_203282.4(ZNF254):c.70C>G (p.Leu24Val)	ZNF254 (L24V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2271940	NM_203282.4(ZNF254):c.121G>A (p.Val41Met)	ZNF254 (V41M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550050	NM_203282.4(ZNF254):c.145C>G (p.Leu49Val)	ZNF254 (L8V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523151	NM_203282.4(ZNF254):c.166G>A (p.Val56Ile)	ZNF254 (V56I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482725	NM_203282.4(ZNF254):c.179A>C (p.Asp60Ala)	ZNF254 (D60A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194692	NM_203282.4(ZNF254):c.181C>G (p.Leu61Val)	ZNF254 (L20V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262156	NM_203282.4(ZNF254):c.227G>T (p.Arg76Leu)	ZNF254 (R35L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194696	NM_203282.4(ZNF254):c.250C>T (p.Pro84Ser)	ZNF254 (P43S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468789	NM_203282.4(ZNF254):c.271G>A (p.Ala91Thr)	ZNF254 (A50T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332510	NM_203282.4(ZNF254):c.275A>G (p.Gln92Arg)	ZNF254 (Q19R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194697	NM_203282.4(ZNF254):c.277G>C (p.Asp93His)	ZNF254 (D52H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511943	NM_203282.4(ZNF254):c.383G>A (p.Ser128Asn)	ZNF254 (S43N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194698	NM_203282.4(ZNF254):c.405C>G (p.Asn135Lys)	ZNF254 (N62K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249375	NM_203282.4(ZNF254):c.469G>A (p.Asp157Asn)	ZNF254 (D116N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326763	NM_203282.4(ZNF254):c.529A>G (p.Thr177Ala)	ZNF254 (T136A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495873	NM_203282.4(ZNF254):c.560G>A (p.Arg187His)	ZNF254 (R146H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225338	NM_203282.4(ZNF254):c.560G>C (p.Arg187Pro)	ZNF254 (R146P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309829	NM_203282.4(ZNF254):c.578T>C (p.Met193Thr)	ZNF254 (M108T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620408	NM_203282.4(ZNF254):c.589A>G (p.Lys197Glu)	ZNF254 (K124E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253672	NM_203282.4(ZNF254):c.616A>G (p.Arg206Gly)	ZNF254 (R206G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238743	NM_203282.4(ZNF254):c.635G>A (p.Cys212Tyr)	ZNF254 (C127Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266665	NM_203282.4(ZNF254):c.641A>C (p.Glu214Ala)	ZNF254 (E129A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361456	NM_203282.4(ZNF254):c.693T>G (p.Ile231Met)	ZNF254 (I158M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194699	NM_203282.4(ZNF254):c.728A>G (p.Tyr243Cys)	ZNF254 (Y170C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194700	NM_203282.4(ZNF254):c.803G>T (p.Cys268Phe)	ZNF254 (C183F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510001	NM_203282.4(ZNF254):c.823T>C (p.Phe275Leu)	ZNF254 (F202L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293290	NM_203282.4(ZNF254):c.934C>T (p.His312Tyr)	ZNF254 (H227Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205124	NM_203282.4(ZNF254):c.959A>T (p.Lys320Ile)	ZNF254 (K247I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317386	NM_203282.4(ZNF254):c.965A>G (p.Tyr322Cys)	ZNF254 (Y237C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537488	NM_203282.4(ZNF254):c.988G>A (p.Ala330Thr)	ZNF254 (A330T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194685	NM_203282.4(ZNF254):c.1031A>T (p.His344Leu)	ZNF254 (H259L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389341	NM_203282.4(ZNF254):c.1046C>G (p.Pro349Arg)	ZNF254 (P276R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194686	NM_203282.4(ZNF254):c.1120G>A (p.Gly374Arg)	ZNF254 (G289R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194687	NM_203282.4(ZNF254):c.1129C>T (p.Arg377Cys)	ZNF254 (R377C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259505	NM_203282.4(ZNF254):c.1130G>T (p.Arg377Leu)	ZNF254 (R336L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562016	NM_203282.4(ZNF254):c.1180A>G (p.Thr394Ala)	ZNF254 (T394A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194688	NM_203282.4(ZNF254):c.1234G>A (p.Gly412Ser)	ZNF254 (G327S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454740	NM_203282.4(ZNF254):c.1250G>C (p.Arg417Pro)	ZNF254 (R376P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530813	NM_203282.4(ZNF254):c.1270C>A (p.His424Asn)	ZNF254 (H424N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383877	NM_203282.4(ZNF254):c.1319G>A (p.Gly440Asp)	ZNF254 (G355D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194689	NM_203282.4(ZNF254):c.1324G>A (p.Ala442Thr)	ZNF254 (A442T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516118	NM_203282.4(ZNF254):c.1396G>C (p.Glu466Gln)	ZNF254 (E393Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278054	NM_203282.4(ZNF254):c.1442A>G (p.Lys481Arg)	ZNF254 (K396R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403635	NM_203282.4(ZNF254):c.1454C>G (p.Thr485Ser)	ZNF254 (T400S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589504	NM_203282.4(ZNF254):c.1457G>T (p.Gly486Val)	ZNF254 (G401V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288609	NM_203282.4(ZNF254):c.1496T>G (p.Phe499Cys)	ZNF254 (F414C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194690	NM_203282.4(ZNF254):c.1597C>G (p.Leu533Val)	ZNF254 (L448V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362465	NM_203282.4(ZNF254):c.1613T>G (p.Ile538Arg)	ZNF254 (I465R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248953	NM_203282.4(ZNF254):c.1616T>C (p.Ile539Thr)	ZNF254 (I539T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469308	NM_203282.4(ZNF254):c.1645G>C (p.Glu549Gln)	ZNF254 (E464Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216531	NM_203282.4(ZNF254):c.1691A>G (p.His564Arg)	ZNF254 (H479R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248486	NM_203282.4(ZNF254):c.1727G>A (p.Cys576Tyr)	ZNF254 (C503Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347780	NM_203282.4(ZNF254):c.1733A>T (p.Glu578Val)	ZNF254 (E493V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385596	NM_203282.4(ZNF254):c.1756T>C (p.Ser586Pro)	ZNF254 (S586P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391315	NM_203282.4(ZNF254):c.1771A>G (p.Lys591Glu)	ZNF254 (K518E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386503	NM_203282.4(ZNF254):c.1774C>T (p.His592Tyr)	ZNF254 (H507Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194693	NM_203282.4(ZNF254):c.1876G>C (p.Gly626Arg)	ZNF254 (G553R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390829	NM_203282.4(ZNF254):c.1915T>C (p.Phe639Leu)	ZNF254 (F554L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598685	NM_203282.4(ZNF254):c.1921C>T (p.Arg641Trp)	ZNF254 (R600W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373754	NM_203282.4(ZNF254):c.1922G>A (p.Arg641Gln)	ZNF254 (R568Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509847	NM_203282.4(ZNF254):c.1928C>T (p.Ser643Leu)	ZNF254 (S602L +3 more)	Single nucleotide variant (missense variant)	not specified	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 816510	GRCh37/hg19 19p12-11(chr19:22630650-24487350)x3	ZNF99, ZNF492 +7 more	Copy number gain	See cases	GUncertain significance
Select item 624550	GRCh37/hg19 19p12(chr19:23855084-24340741)x3	ZNF254, ZNF675 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564601	GRCh37/hg19 19p12-11(chr19:22635439-24505637)x3	ZNF254, ZNF492 +7 more	Copy number gain	not provided	GLikely benign
Select item 564596	GRCh37/hg19 19p12-11(chr19:23804544-24505637)x3	ZNF675, ZNF681 +2 more	Copy number gain	not provided	GLikely benign
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 443118	GRCh37/hg19 19p12-11(chr19:23912239-24507121)x3	ZNF254, ZNF681 +1 more	Copy number gain	See cases	GUncertain significance
Select item 221985	GRCh37/hg19 19p12-11(chr19:24029621-24503818)x3	ZNF254, ZNF726	Copy number gain	See cases	GUncertain significance

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Items: 83