"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7288	NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser)	IFNAR2, IFNAR2-IL10RB (F8S)	Single nucleotide variant (missense variant)	Immunodeficiency 45 +2 more	GBenign
Select item 1170800	NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val)	IFNAR2, IFNAR2-IL10RB (F10V)	Single nucleotide variant (missense variant)	Immunodeficiency 45 +2 more	GBenign
Select item 1684582	NM_001289125.3(IFNAR2):c.98-43T>C	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1684583	NM_001289125.3(IFNAR2):c.541-50A>G	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2688182	NM_001289125.3(IFNAR2):c.841-290C>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 402970	NM_001289125.3(IFNAR2):c.841-220G>A	IFNAR2, IFNAR2-IL10RB +1 more (A285T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2688036	NM_001289125.3(IFNAR2):c.841-44dup	IFNAR2, IFNAR2-IL10RB	Duplication (3 prime UTR variant +1 more)	not specified	GBenign
Select item 2688253	NM_001289125.3(IFNAR2):c.841-33C>T	IFNAR2, IFNAR2-IL10RB	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 1285251	NM_001289125.3(IFNAR2):c.841-4del	IFNAR2, IFNAR2-IL10RB	Deletion (3 prime UTR variant +1 more)	Immunodeficiency 45 +1 more	GBenign