C5677009[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064420	NM_000629.3(IFNAR1):c.1671_*1821del (p.Ter558AlaextTer?)	IFNAR1	Deletion (frameshift variant +2 more)	Immunodeficiency 106, susceptibility to viral infections	GUncertain significance
Select item 1299494	NM_000629.3(IFNAR1):c.1672_*3del (p.Ter558del)	IFNAR1 (:304del +5 more)	Deletion (stop lost +3 more)	Immunodeficiency 106, susceptibility to viral infections	GUncertain significance
Select item 3065852	NM_000629.3(IFNAR1):c.1672T>C (p.Ter558Arg)	IFNAR1	Single nucleotide variant (stop lost +2 more)	Immunodeficiency 106, susceptibility to viral infections	GUncertain significance
Select item 3065116	NM_000629.3(IFNAR1):c.2205_2213del	IFNAR1	Deletion (3 prime UTR variant +2 more)	Immunodeficiency 106, susceptibility to viral infections	GUncertain significance

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