ClinVar for Gene (Select 339318) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391938	GRCh37/hg19 19q11-13.13(chr19:28271107-38637350)x1	COX7A1, C19orf12 +128 more	Copy number loss	not provided	GPathogenic
Select item 3335062	NM_001029997.4(ZNF181):c.385G>A (p.Gly129Arg)	ZNF181 (G128R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335061	NM_001029997.4(ZNF181):c.733G>A (p.Ala245Thr)	ZNF181 (A245T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335060	NM_001029997.4(ZNF181):c.1394T>C (p.Ile465Thr)	ZNF181 (I465T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3194232	NM_001029997.4(ZNF181):c.604A>G (p.Lys202Glu)	ZNF181 (K202E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194230	NM_001029997.4(ZNF181):c.437G>C (p.Arg146Thr)	ZNF181 (R145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194229	NM_001029997.4(ZNF181):c.322G>T (p.Val108Leu)	ZNF181 (V108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194228	NM_001029997.4(ZNF181):c.1687G>A (p.Glu563Lys)	ZNF181 (E562K +1 more)	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 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2621032	NM_001029997.4(ZNF181):c.1682C>T (p.Thr561Ile)	ZNF181 (T560I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615716	NM_001029997.4(ZNF181):c.770G>T (p.Arg257Ile)	ZNF181 (R256I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594069	NM_001029997.4(ZNF181):c.1384G>A (p.Glu462Lys)	ZNF181 (E462K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589299	NM_001029997.4(ZNF181):c.407A>C (p.Asp136Ala)	ZNF181 (D136A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568598	NM_001029997.4(ZNF181):c.803G>A (p.Arg268His)	ZNF181 (R267H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551368	NM_001029997.4(ZNF181):c.36C>A (p.Asp12Glu)	ZNF181 (D12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549838	NM_001029997.4(ZNF181):c.1524G>C (p.Gln508His)	ZNF181 (Q508H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530419	NM_001029997.4(ZNF181):c.724T>C (p.Cys242Arg)	ZNF181 (C242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512697	NM_001029997.4(ZNF181):c.527T>A (p.Ile176Asn)	ZNF181 (I176N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486213	NM_001029997.4(ZNF181):c.1046A>G (p.Tyr349Cys)	ZNF181 (Y348C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461578	NM_001029997.4(ZNF181):c.1424C>T (p.Ser475Phe)	ZNF181 (S474F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455975	NM_001029997.4(ZNF181):c.1534A>G (p.Thr512Ala)	ZNF181 (T512A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2400333	NM_001029997.4(ZNF181):c.305T>A (p.Val102Glu)	ZNF181 (V102E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400332	NM_001029997.4(ZNF181):c.1667A>C (p.Tyr556Ser)	ZNF181 (Y556S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390828	NM_001029997.4(ZNF181):c.1562A>G (p.Glu521Gly)	ZNF181 (E521G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389537	NM_001029997.4(ZNF181):c.833C>T (p.Ser278Leu)	ZNF181 (S277L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380701	NM_001029997.4(ZNF181):c.1606C>G (p.Gln536Glu)	ZNF181 (Q535E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364042	NM_001029997.4(ZNF181):c.993T>G (p.Ser331Arg)	ZNF181 (S330R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360756	NM_001029997.4(ZNF181):c.131C>G (p.Ala44Gly)	ZNF181 (A44G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360665	NM_001029997.4(ZNF181):c.1199C>T (p.Thr400Ile)	ZNF181 (T399I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346524	NM_001029997.4(ZNF181):c.760C>T (p.Arg254Cys)	ZNF181 (R254C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314644	NM_001029997.4(ZNF181):c.1293A>T (p.Lys431Asn)	ZNF181 (K431N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306967	NM_001029997.4(ZNF181):c.761G>T (p.Arg254Leu)	ZNF181 (R253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287424	NM_001029997.4(ZNF181):c.414C>G (p.Phe138Leu)	ZNF181 (F138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284360	NM_001029997.4(ZNF181):c.535G>A (p.Glu179Lys)	ZNF181 (E179K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263872	NM_001029997.4(ZNF181):c.1109T>G (p.Ile370Ser)	ZNF181 (I370S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242315	NM_001029997.4(ZNF181):c.1181G>C (p.Arg394Pro)	ZNF181 (R394P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221249	NM_001029997.4(ZNF181):c.734C>T (p.Ala245Val)	ZNF181 (A244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
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 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54