"Baylor Genetics"[submitter] AND "ISG15"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028857	NM_005101.4(ISG15):c.4-1G>A	ISG15	Single nucleotide variant (splice acceptor variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GPathogenic/Likely pathogenic
Select item 659187	NM_005101.4(ISG15):c.131G>A (p.Arg44His)	ISG15 (R44H)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 571208	NM_005101.4(ISG15):c.275G>A (p.Arg92His)	ISG15 (R92H)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1020899	NM_005101.4(ISG15):c.463dup (p.Arg155fs)	ISG15 (R155fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 625817	GRCh37/hg19 1p36.33(chr1:568708-1283779)	ACAP3, AGRN +25 more	Copy number loss	not provided	GLikely pathogenic
Select item 625768	GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	CFAP74, CPTP +62 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625767	GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	MEGF6, MIB2 +71 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic