LCE1C[gene] - ClinVar - NCBI

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Items: 19

	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 787217	NM_178351.4(LCE1C):c.317G>A (p.Cys106Tyr)	LCE1C (C106Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2492315	NM_178351.4(LCE1C):c.305G>T (p.Gly102Val)	LCE1C (G72V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118035	NM_178351.4(LCE1C):c.259T>C (p.Cys87Arg)	LCE1C (C57R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775142	NM_178351.4(LCE1C):c.200G>T (p.Cys67Phe)	LCE1C (C67F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3290252	NM_178351.4(LCE1C):c.187A>G (p.Ser63Gly)	LCE1C (S63G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212695	NM_178351.4(LCE1C):c.113C>T (p.Pro38Leu)	LCE1C (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290251	NM_178351.4(LCE1C):c.107A>G (p.Lys36Arg)	LCE1C (K36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612554	NM_178351.4(LCE1C):c.34C>A (p.Pro12Thr)	LCE1C (P12T)	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	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +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