ACTL8[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	ACTL8, AKR7A2 +206 more	Copy number loss	See cases	GPathogenic
Select item 153787	GRCh38/hg38 1p36.13(chr1:17700973-18335637)x3	ACTL8, IGSF21 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150155	GRCh38/hg38 1p36.13(chr1:17722922-18332415)x3	ACTL8, IGSF21 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 147364	GRCh38/hg38 1p36.13(chr1:17742890-18305739)x3	ACTL8, IGSF21 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2528531	NM_030812.3(ACTL8):c.16G>C (p.Val6Leu)	ACTL8 (V6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385786	NM_030812.3(ACTL8):c.56C>T (p.Thr19Met)	ACTL8 (T19M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257822	NM_030812.3(ACTL8):c.61G>A (p.Gly21Ser)	ACTL8 (G21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243237	NM_030812.3(ACTL8):c.182A>G (p.Asp61Gly)	ACTL8 (D61G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224220	NM_030812.3(ACTL8):c.212G>T (p.Arg71Leu)	ACTL8 (R71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588886	NM_030812.3(ACTL8):c.217C>G (p.Leu73Val)	ACTL8 (L73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226412	NM_030812.3(ACTL8):c.491G>A (p.Arg164His)	ACTL8 (R164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238016	NM_030812.3(ACTL8):c.529G>A (p.Gly177Ser)	ACTL8 (G177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256937	NM_030812.3(ACTL8):c.545C>T (p.Ala182Val)	ACTL8 (A182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382261	NM_030812.3(ACTL8):c.613G>A (p.Ala205Thr)	ACTL8 (A205T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349001	NM_030812.3(ACTL8):c.617T>G (p.Val206Gly)	ACTL8 (V206G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307765	NM_030812.3(ACTL8):c.656G>C (p.Gly219Ala)	ACTL8 (G219A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396508	NM_030812.3(ACTL8):c.661G>A (p.Ala221Thr)	ACTL8 (A221T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514411	NM_030812.3(ACTL8):c.736G>A (p.Val246Met)	ACTL8 (V246M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454516	NM_030812.3(ACTL8):c.758G>A (p.Arg253Gln)	ACTL8 (R253Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330115	NM_030812.3(ACTL8):c.790G>T (p.Val264Leu)	ACTL8 (V264L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246175	NM_030812.3(ACTL8):c.821G>A (p.Arg274Gln)	ACTL8 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2401355	NM_030812.3(ACTL8):c.859C>G (p.Leu287Val)	ACTL8 (L287V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474340	NM_030812.3(ACTL8):c.961T>A (p.Ser321Thr)	ACTL8 (S321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565080	GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3	ACTL8, ARHGEF10L +11 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394895	GRCh37/hg19 1p36.13(chr1:18016160-18632174)x3	ACTL8, ARHGEF10L +1 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 43