LCE2B[gene] - ClinVar

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Items: 26

	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 152664	GRCh38/hg38 1q21.3(chr1:152526704-152729716)x1	C1orf68, LCE2A +10 more	Copy number loss	See cases	GBenign
Select item 2242205	NM_014357.5(LCE2B):c.59G>T (p.Cys20Phe)	LCE2B (C20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343297	NM_014357.5(LCE2B):c.64C>G (p.Pro22Ala)	LCE2B (P22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118051	NM_014357.5(LCE2B):c.74C>T (p.Pro25Leu)	LCE2B (P25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118052	NM_014357.5(LCE2B):c.85C>T (p.Pro29Ser)	LCE2B (P29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280674	NM_014357.5(LCE2B):c.106T>C (p.Cys36Arg)	LCE2B (C36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370781	NM_014357.5(LCE2B):c.121T>G (p.Ser41Ala)	LCE2B (S41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386857	NM_014357.5(LCE2B):c.122C>T (p.Ser41Phe)	LCE2B (S41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118049	NM_014357.5(LCE2B):c.209G>T (p.Gly70Val)	LCE2B (G70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118050	NM_014357.5(LCE2B):c.247C>T (p.Arg83Trp)	LCE2B (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290257	NM_014357.5(LCE2B):c.296G>C (p.Gly99Ala)	LCE2B (G99A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486045	NM_014357.5(LCE2B):c.326G>T (p.Cys109Phe)	LCE2B (C109F)	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 1340822	GRCh37/hg19 1q21.3(chr1:152520371-152749733)x1	C1orf68, KPRP +11 more	Copy number loss	not provided	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 394299	GRCh37/hg19 1q21.3(chr1:152647750-152670818)x3	LCE2B, LCE2C	Copy number gain	See cases	GBenign
Select item 393761	GRCh37/hg19 1q21.3(chr1:152647750-152659287)x3	LCE2B, LCE2C	Copy number gain	See cases	GBenign
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: 26