LCE3D[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 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 147263	GRCh38/hg38 1q21.3(chr1:152566461-152613805)x1	LCE3C, LCE3D +1 more	Copy number loss	See cases	GBenign
Select item 3118067	NM_032563.2(LCE3D):c.241G>A (p.Gly81Ser)	LCE3D (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402087	NM_032563.2(LCE3D):c.238G>A (p.Gly80Arg)	LCE3D (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118066	NM_032563.2(LCE3D):c.191G>A (p.Arg64Gln)	LCE3D (R64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289739	NM_032563.2(LCE3D):c.185G>A (p.Arg62Gln)	LCE3D (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595483	NM_032563.2(LCE3D):c.176G>A (p.Arg59His)	LCE3D (R59H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560409	NM_032563.2(LCE3D):c.175C>T (p.Arg59Cys)	LCE3D (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118065	NM_032563.2(LCE3D):c.151G>A (p.Gly51Ser)	LCE3D (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618781	NM_032563.2(LCE3D):c.133G>A (p.Gly45Ser)	LCE3D (G45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523906	NM_032563.2(LCE3D):c.125G>A (p.Gly42Glu)	LCE3D (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118064	NM_032563.2(LCE3D):c.107G>T (p.Gly36Val)	LCE3D (G36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263239	NM_032563.2(LCE3D):c.52T>C (p.Ser18Pro)	LCE3D (S18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458916	NM_032563.2(LCE3D):c.32A>T (p.Gln11Leu)	LCE3D (Q11L)	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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	EFNA3, EFNA4 +228 more	Duplication	Kostmann 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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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: 26