ClinVar for MedGen (Select 1804672) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 2581563	NM_000629.3(IFNAR1):c.1356del (p.Phe452fs)	IFNAR1 (F198fs +4 more)	Deletion (frameshift variant +1 more)	Immunodeficiency 106, susceptibility to viral infections	GLikely pathogenic
Select item 2431416	NC_000021.9:g.(33336874_33344911)del	IFNAR1	Deletion	Immunodeficiency 106, susceptibility to viral infections	GPathogenic
Select item 1693257	NM_000629.3(IFNAR1):c.788+1636_1144-1368del	IFNAR1	Deletion (splice acceptor variant +1 more)	Immunodeficiency 106, susceptibility to viral infections	Grisk factor
Select item 1693255	NM_000629.3(IFNAR1):c.1440+331_*239del	IFNAR1	Deletion (splice acceptor variant +1 more)	Immunodeficiency 106, susceptibility to viral infections	Grisk factor
Select item 1693254	NM_000629.3(IFNAR1):c.922C>T (p.Gln308Ter)	IFNAR1 (Q308* +4 more)	Single nucleotide variant (nonsense)	Immunodeficiency 106, susceptibility to viral infections	Grisk factor
Select item 1437264	NM_000629.3(IFNAR1):c.1156G>T (p.Glu386Ter)	IFNAR1 (E232* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 691596	NM_000629.3(IFNAR1):c.783G>A (p.Trp261Ter)	IFNAR1 (W261*)	Single nucleotide variant (nonsense)	Immunodeficiency 106, susceptibility to viral infections	Grisk factor
Select item 691595	NM_000629.3(IFNAR1):c.674-1G>A	IFNAR1	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 106, susceptibility to viral infections	Grisk factor
Select item 691594	NM_000629.3(IFNAR1):c.674-2A>G	IFNAR1	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 106, susceptibility to viral infections	Grisk factor