LCE1B[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 3290248	NM_178349.2(LCE1B):c.56A>C (p.Lys19Thr)	LCE1B (K19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375270	NM_178349.2(LCE1B):c.61C>T (p.Pro21Ser)	LCE1B (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118034	NM_178349.2(LCE1B):c.77C>T (p.Thr26Ile)	LCE1B (T26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290250	NM_178349.2(LCE1B):c.80C>G (p.Pro27Arg)	LCE1B (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290247	NM_178349.2(LCE1B):c.145G>A (p.Gly49Arg)	LCE1B (G49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537141	NM_178349.2(LCE1B):c.151T>C (p.Cys51Arg)	LCE1B (C51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541861	NM_178349.2(LCE1B):c.167C>G (p.Ser56Cys)	LCE1B (S56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118032	NM_178349.2(LCE1B):c.242G>A (p.Arg81Lys)	LCE1B (R81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209903	NM_178349.2(LCE1B):c.244C>T (p.Arg82Cys)	LCE1B (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1809281	GRCh37/hg19 1q21.3(chr1:152648864-153286218)x3	C1orf68, IVL +27 more	Copy number gain	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DPM3, ECM1 +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	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 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	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 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 20