"GeneDx"[submitter] AND "CHL1"[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 59098	GRCh38/hg38 3p26.3(chr3:63843-325628)x3	CHL1, CHL1-AS2 +3 more	Copy number gain	See cases	GUncertain significance
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 144856	GRCh38/hg38 3p26.3(chr3:85837-296216)x3	CHL1, CHL1-AS2 +2 more	Copy number gain	See cases	GBenign
Select item 60015	GRCh38/hg38 3p26.3(chr3:171028-1018461)x1	CHL1, CHL1-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 151881	GRCh38/hg38 3p26.3(chr3:190813-213696)x3	CHL1, CHL1-AS2	Copy number gain	See cases	GBenign
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 1676925	NM_006614.4(CHL1):c.197+10G>C	CHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379251	NM_006614.4(CHL1):c.1241T>C (p.Val414Ala)	CHL1 (V414A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 253879	GRCh37/hg19 3p26.3(chr3:270649-431897)x1	CHL1	Copy number loss	See cases	GUncertain significance
Select item 253369	GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1	CRBN, CHL1 +5 more	Copy number loss	See cases	GLikely pathogenic