"GeneDx"[submitter] AND "ISG15"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 151330	GRCh38/hg38 1p36.33(chr1:917483-1072906)x3	AGRN, HES4 +35 more	Copy number gain	See cases	GBenign
Select item 151320	GRCh38/hg38 1p36.33(chr1:955565-1072906)x3	AGRN, HES4 +29 more	Copy number gain	See cases	GBenign
Select item 151325	GRCh38/hg38 1p36.33(chr1:978251-1072906)x3	AGRN, HES4 +22 more	Copy number gain	See cases	GBenign
Select item 151327	GRCh38/hg38 1p36.33(chr1:996104-1072906)x3	AGRN, HES4 +20 more	Copy number gain	See cases	GBenign
Select item 1166514	NM_005101.4(ISG15):c.294A>G (p.Val98=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more	GBenign
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic