PPIAL4C[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 3217171	NM_001135789.5(PPIAL4C):c.371G>A (p.Gly124Asp)	PPIAL4C (G124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 395291	GRCh37/hg19 1q21.2(chr1:148940709-149763756)x1	FAM72C, PPIAL4C +3 more	Copy number loss	See cases	GBenign
Select item 395233	GRCh37/hg19 1q21.2(chr1:149223984-149763756)x3	FAM72C, FCGR1A +2 more	Copy number gain	See cases	GLikely benign
Select item 395033	GRCh37/hg19 1q21.2(chr1:148004766-149754410)x3	FAM72C, FCGR1A +8 more	Copy number gain	See cases	GBenign
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 161078	GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	FAM72C, PPIAL4C +1 more	Copy number gain	See cases	GBenign
Select item 149983	GRCh37/hg19 1q21.2(chr1:149041023-149768869)x1	FAM72C, FCGR1A +3 more	Copy number loss	See cases	GBenign
Select item 146780	GRCh37/hg19 1q21.2(chr1:149041023-149699396)x1	FAM72C, PPIAL4C +1 more	Copy number loss	See cases	GBenign/Likely benign
Select item 144372	GRCh37/hg19 1q21.2(chr1:149041013-149768855)x1	FAM72C, FCGR1A +3 more	Copy number loss	See cases	GBenign
Select item 144340	GRCh37/hg19 1q21.2(chr1:149091130-149699420)x1	FAM72C, PPIAL4C +1 more	Copy number loss	See cases	GBenign
Select item 32283	GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1	FAM72C, PPIAL4C +1 more	Copy number loss	See cases	GBenign

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Items: 23