ClinVar for Gene (Select 353137) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118042	NM_178354.3(LCE1F):c.322G>T (p.Gly108Trp)	LCE1F (G108W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118041	NM_178354.3(LCE1F):c.260G>A (p.Arg87His)	LCE1F (R87H)	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 2639341	NM_178354.3(LCE1F):c.249T>C (p.Arg83=)	LCE1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639340	NM_178354.3(LCE1F):c.246G>C (p.Arg82=)	LCE1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639339	NM_178354.3(LCE1F):c.243A>G (p.Arg81=)	LCE1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639338	NM_178354.3(LCE1F):c.225T>C (p.Cys75=)	LCE1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616953	NM_178354.3(LCE1F):c.59G>A (p.Cys20Tyr)	LCE1F (C20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616952	NM_178354.3(LCE1F):c.212G>A (p.Gly71Glu)	LCE1F (G71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2537623	NM_178354.3(LCE1F):c.136G>A (p.Val46Ile)	LCE1F (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537454	NM_178354.3(LCE1F):c.325G>T (p.Gly109Cys)	LCE1F (G109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464298	NM_178354.3(LCE1F):c.313T>G (p.Cys105Gly)	LCE1F (C105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407060	NM_178354.3(LCE1F):c.323G>C (p.Gly108Ala)	LCE1F (G108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406100	NM_178354.3(LCE1F):c.62C>T (p.Pro21Leu)	LCE1F (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403817	NM_178354.3(LCE1F):c.211G>C (p.Gly71Arg)	LCE1F (G71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309606	NM_178354.3(LCE1F):c.302C>T (p.Ala101Val)	LCE1F (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254388	NM_178354.3(LCE1F):c.115C>T (p.Pro39Ser)	LCE1F (P39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224735	NM_178354.3(LCE1F):c.53C>T (p.Pro18Leu)	LCE1F (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CDC42SE1, CELF3 +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	ATP8B2, AVPR1B +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)	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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29