"ISG15-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040451	NM_005101.4(ISG15):c.-21CACAGCC[1]	ISG15	Microsatellite (5 prime UTR variant)	ISG15-related disorder	GLikely benign
Select item 2895660	NM_005101.4(ISG15):c.225G>A (p.Val75=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GLikely benign
Select item 542076	NM_005101.4(ISG15):c.421G>A (p.Gly141Ser)	ISG15 (G141S)	Single nucleotide variant (missense variant)	ISG15-related disorder +1 more	GLikely benign
Select item 1590244	NM_005101.4(ISG15):c.486C>T (p.Gly162=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GLikely benign
Select item 3050573	NM_005101.4(ISG15):c.*4C>A	ISG15	Single nucleotide variant (3 prime UTR variant)	ISG15-related disorder	GLikely benign

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