ClinVar for Gene (Select 9534) - ClinVar

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335266	NM_203282.4(ZNF254):c.1199A>G (p.His400Arg)	ZNF254 (H327R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335265	NM_203282.4(ZNF254):c.1584C>A (p.Asn528Lys)	ZNF254 (N455K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335264	NM_203282.4(ZNF254):c.379A>G (p.Lys127Glu)	ZNF254 (K127E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335263	NM_203282.4(ZNF254):c.1261C>T (p.Leu421Phe)	ZNF254 (L348F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335262	NM_203282.4(ZNF254):c.1482A>C (p.Glu494Asp)	ZNF254 (E409D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335261	NM_203282.4(ZNF254):c.1621A>G (p.Thr541Ala)	ZNF254 (T500A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335260	NM_203282.4(ZNF254):c.1288G>A (p.Gly430Arg)	ZNF254 (G430R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335259	NM_203282.4(ZNF254):c.1864A>G (p.Arg622Gly)	ZNF254 (R549G +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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)	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 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
Select item 155499	GRCh38/hg38 19p12-11(chr19:23631687-24324339)x4	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
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 153277	GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3	LINC03085, LOC100505851 +14 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 150152	GRCh38/hg38 19p12(chr19:23665911-24195691)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 146715	GRCh38/hg38 19p12(chr19:23629461-24183272)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 145634	GRCh38/hg38 19p12(chr19:23685651-24193591)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	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
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 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: 91