LCE3E[gene] - ClinVar

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Items: 23

	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 149775	GRCh38/hg38 1q21.3(chr1:152365299-152618044)x3	CCDST, CRCT1 +8 more	Copy number gain	See cases	GLikely benign
Select item 152664	GRCh38/hg38 1q21.3(chr1:152526704-152729716)x1	C1orf68, LCE2A +10 more	Copy number loss	See cases	GBenign
Select item 2382756	NM_178435.4(LCE3E):c.269G>A (p.Gly90Asp)	LCE3E (G90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290262	NM_178435.4(LCE3E):c.233A>T (p.Gln78Leu)	LCE3E (Q78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518977	NM_178435.4(LCE3E):c.209C>T (p.Ser70Phe)	LCE3E (S70F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316038	NM_178435.4(LCE3E):c.193C>T (p.Arg65Cys)	LCE3E (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495510	NM_178435.4(LCE3E):c.184C>G (p.Arg62Gly)	LCE3E (R62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516922	NM_178435.4(LCE3E):c.128G>T (p.Gly43Val)	LCE3E (G43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248704	NM_178435.4(LCE3E):c.85T>C (p.Cys29Arg)	LCE3E (C29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410461	NM_178435.4(LCE3E):c.33A>T (p.Gln11His)	LCE3E (Q11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118068	NM_178435.4(LCE3E):c.15G>C (p.Gln5His)	LCE3E (Q5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147263	GRCh38/hg38 1q21.3(chr1:152566461-152613805)x1	LCE3C, LCE3D +1 more	Copy number loss	See cases	GBenign
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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +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 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: 23