LINC02718[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic
Select item 152043	GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1	ANO5, CCDC179 +21 more	Copy number loss	See cases	GUncertain significance
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145008	GRCh38/hg38 11p14.3(chr11:22830371-23213204)x3	CCDC179, LINC02718 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2466329	NM_001195637.2(CCDC179):c.103C>T (p.Arg35Cys)	CCDC179, LINC02718 (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225292	NM_001195637.2(CCDC179):c.85C>T (p.Arg29Trp)	CCDC179, LINC02718 (R29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627998	NM_001195637.2(CCDC179):c.25G>C (p.Glu9Gln)	LINC02718, CCDC179 (E9Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2512081	NM_001195637.2(CCDC179):c.25G>A (p.Glu9Lys)	CCDC179, LINC02718 (E9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic