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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 355554	NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=)	IFNGR1	Single nucleotide variant (synonymous variant)	Immunodeficiency 27A +2 more	GBenign
Select item 355555	NM_000416.3(IFNGR1):c.862-4A>G	IFNGR1	Single nucleotide variant (intron variant)	Immunodeficiency 27A +2 more	GBenign
Select item 2688425	NM_000416.3(IFNGR1):c.86-2817G>A	IFNGR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688431	NM_000416.3(IFNGR1):c.86-2978A>G	IFNGR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688498	NM_000416.3(IFNGR1):c.85+3925C>T	IFNGR1 (L2F)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2688432	NM_000416.3(IFNGR1):c.85+45G>A	IFNGR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 355562	NM_000416.3(IFNGR1):c.85+10T>C	IFNGR1	Single nucleotide variant (intron variant)	Immunodeficiency 27A +3 more	GBenign
Select item 355565	NM_000416.3(IFNGR1):c.-56T>C	IFNGR1	Single nucleotide variant (5 prime UTR variant)	Immunodeficiency 27A +2 more	GBenign

ClinVar