PPIAL4A[gene] - ClinVar

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Items: 24

	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 3217170	NM_001143883.4(PPIAL4A):c.40G>A (p.Gly14Ser)	PPIAL4A (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555460	NM_001143883.4(PPIAL4A):c.55C>G (p.Arg19Gly)	PPIAL4A (R19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533731	NM_001143883.4(PPIAL4A):c.140G>T (p.Arg47Leu)	PPIAL4A (R47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217169	NM_001143883.4(PPIAL4A):c.209A>G (p.His70Arg)	PPIAL4A (H70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276537	NM_001143883.4(PPIAL4A):c.248T>A (p.Phe83Tyr)	PPIAL4A (F83Y)	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 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 1711136	GRCh37/hg19 1q21.1(chr1:143950572-144462929)x3	NBPF8, PPIAL4A +1 more	Copy number gain	See cases	GPathogenic
Select item 1340652	GRCh37/hg19 1q21.1(chr1:144307124-144517856)x1	PPIAL4A	Copy number loss	not provided	GLikely benign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814120	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 688523	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 635904	Single allele	NBPF8, PPIAL4A	Duplication	Growth abnormality	GUncertain significance
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 442015	GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3	ACP6, ANKRD34A +42 more	Copy number gain	See cases	GLikely pathogenic
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 146685	GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3	ACP6, ANKRD34A +35 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
Select item 59718	GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3	ANKRD34A, ANKRD35 +24 more	Copy number gain	See cases	GUncertain significance

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Items: 24