"GeneDx"[submitter] AND "CNTN6"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60014	GRCh38/hg38 3p26.3(chr3:20521-1209209)x1	CHL1, CHL1-AS1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 59097	GRCh38/hg38 3p26.3(chr3:63843-1209209)x3	CHL1, CHL1-AS1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 60016	GRCh38/hg38 3p26.3(chr3:244617-1209150)x1	CHL1, CHL1-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 59099	GRCh38/hg38 3p26.3(chr3:245817-1097280)x3	CHL1, CHL1-AS1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 146170	GRCh38/hg38 3p26.3(chr3:529584-1305609)x3	CNTN6, LINC01266 +2 more	Copy number gain	See cases	GUncertain significance
Select item 146172	GRCh38/hg38 3p26.3(chr3:815458-1385776)x3	CNTN6, LINC01266 +2 more	Copy number gain	See cases	GBenign
Select item 151833	GRCh38/hg38 3p26.3(chr3:1046521-1608517)x1	CNTN6, LOC126806587	Copy number loss	See cases	GUncertain significance
Select item 145194	GRCh38/hg38 3p26.3(chr3:1079157-1260116)x3	CNTN6, LOC126806587	Copy number gain	See cases	GBenign
Select item 152465	GRCh38/hg38 3p26.3(chr3:1126048-1984526)x3	CNTN6, LOC107522035 +2 more	Copy number gain	See cases	GLikely benign
Select item 151837	GRCh38/hg38 3p26.3(chr3:1126048-1196033)x3	CNTN6	Copy number gain	See cases	GBenign
Select item 1303371	NM_001289080.2(CNTN6):c.1213+8G>A	CNTN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253369	GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1	CRBN, CHL1 +5 more	Copy number loss	See cases	GLikely pathogenic