LECT2[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 58363	GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1	CTB-1I21.1, IL9 +32 more	Copy number loss	See cases	GPathogenic
Select item 3118301	NM_002302.3(LECT2):c.449A>G (p.Tyr150Cys)	LECT2 (Y150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042925	NM_002302.3(LECT2):c.432G>A (p.Ser144=)	LECT2	Single nucleotide variant (synonymous variant)	LECT2-related disorder	GLikely benign
Select item 3118300	NM_002302.3(LECT2):c.247A>G (p.Asn83Asp)	LECT2 (N83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060729	NM_002302.3(LECT2):c.172A>G (p.Ile58Val)	LECT2 (I58V)	Single nucleotide variant (missense variant)	LECT2-related disorder	GBenign
Select item 3290423	NM_002302.3(LECT2):c.113G>A (p.Arg38His)	LECT2 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379770	NM_002302.3(LECT2):c.92A>G (p.Asn31Ser)	LECT2 (N31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118302	NM_002302.3(LECT2):c.70A>G (p.Ile24Val)	LECT2 (I24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365251	NM_002302.3(LECT2):c.56G>A (p.Gly19Glu)	LECT2 (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 1809383	GRCh37/hg19 5q31.1(chr5:134524754-135283222)x3	CXCL14, DCANP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 25