PPIAL4E[gene] - ClinVar

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Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	LOC129931348, LOC129931349 +212 more	Copy number gain	See cases	GPathogenic
Select item 145983	GRCh38/hg38 1p13.2-11.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +41 more	Copy number gain	See cases	GPathogenic
Select item 58087	GRCh38/hg38 1p12-q21.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +41 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	CD160, ACP6 +177 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931342, LOC129931343 +182 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +177 more	Copy number gain	See cases	GPathogenic
Select item 146706	GRCh38/hg38 1q21.1-21.2(chr1:143515074-144625016)x1	FAM72C, H3-7 +24 more	Copy number loss	See cases	GBenign
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 153816	GRCh38/hg38 1q21.1(chr1:143965076-144913332)x3	FAM72C, LOC105371215 +16 more	Copy number gain	See cases	GUncertain significance
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 2494170	NM_001144032.3(PPIAL4E):c.436G>T (p.Gly146Trp)	PPIAL4E (G146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323543	NM_001144032.3(PPIAL4E):c.425= (p.Met142=)	PPIAL4E	Variation (no sequence alteration)	not specified	GLikely benign
Select item 3309165	NM_001144032.3(PPIAL4E):c.382G>A (p.Ala128Thr)	PPIAL4E (A128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483048	NM_001144032.3(PPIAL4E):c.376C>T (p.His126Tyr)	PPIAL4E (H126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269562	NM_001144032.3(PPIAL4E):c.360G>C (p.Glu120Asp)	PPIAL4E (E120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608511	NM_001144032.3(PPIAL4E):c.341T>A (p.Ile114Asn)	PPIAL4E (I114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217175	NM_001144032.3(PPIAL4E):c.300G>C (p.Met100Ile)	PPIAL4E (M100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217174	NM_001144032.3(PPIAL4E):c.239G>T (p.Gly80Val)	PPIAL4E (G80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335302	NM_001144032.3(PPIAL4E):c.225C>G (p.Asp75Glu)	PPIAL4E (D75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217173	NM_001144032.3(PPIAL4E):c.220G>A (p.Gly74Ser)	PPIAL4E (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386841	NM_001144032.3(PPIAL4E):c.205C>T (p.Arg69Cys)	PPIAL4E (R69C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314437	NM_001144032.3(PPIAL4E):c.140G>A (p.Arg47His)	PPIAL4E (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309164	NM_001144032.3(PPIAL4E):c.113C>T (p.Ala38Val)	PPIAL4E (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217172	NM_001144032.3(PPIAL4E):c.110G>A (p.Arg37His)	PPIAL4E (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1808743	GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 1706516	GRCh37/hg19 1q21.2(chr1:148514178-149758028)x3	FCGR1A, H2BC18 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997084	GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266)	PPIAL4D, PPIAL4E +15 more	Copy number gain	Delayed speech and language development	GPathogenic
Select item 984435	GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3	ACP6, BCL9 +13 more	Copy number gain	See cases	GUncertain significance
Select item 980942	GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 814123	GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3	ACP6, ANKRD34A +32 more	Copy number gain	not provided	GPathogenic
Select item 814122	GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 687620	GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3	ACP6, ANKRD34A +33 more	Copy number gain	not provided	GPathogenic
Select item 565168	GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1	GPR89B, ACP6 +14 more	Copy number loss	not provided	GPathogenic
Select item 565149	GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 443873	GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	See cases	GPathogenic
Select item 443524	GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1	ACP6, ANKRD34A +33 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442130	GRCh37/hg19 1q21.1-21.2(chr1:145895746-148893164)x3	ACP6, BCL9 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 442015	GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3	ACP6, ANKRD34A +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 395462	GRCh37/hg19 1q21.2(chr1:148591245-148771600)x3	NBPF15, PPIAL4E	Copy number gain	See cases	GBenign
Select item 395033	GRCh37/hg19 1q21.2(chr1:148004766-149754410)x3	FAM72C, FCGR1A +8 more	Copy number gain	See cases	GBenign
Select item 394744	GRCh37/hg19 1q21.2(chr1:148574680-148757827)x3	NBPF15, PPIAL4E	Copy number gain	See cases	GBenign
Select item 393958	GRCh37/hg19 1q21.2(chr1:148591245-148757827)x3	NBPF15, PPIAL4E	Copy number gain	See cases	GBenign/Likely benign
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 253484	GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3	ACP6, ANKRD34A +43 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 152024	GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3	ACP6, ANKRD34A +29 more	Copy number gain	See cases	GPathogenic/Likely pathogenic
Select item 151334	GRCh37/hg19 1q21.2(chr1:148552009-148782879)x3	NBPF15, PPIAL4E	Copy number gain	See cases	GBenign
Select item 146444	GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1	ACP6, ANKRD34A +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 146443	GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3	ACP6, ANKRD34A +28 more	Copy number gain	See cases	GPathogenic
Select item 59832	GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1	ACP6, ANKRD34A +39 more	Copy number loss	See cases	GPathogenic
Select item 59831	GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1	ACP6, ANKRD34A +37 more	Copy number loss	See cases	GPathogenic

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Items: 60