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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1234094	NM_001199138.2(NLRC4):c.2783-41_2783-38del	NLRC4	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1261557	NM_001199138.2(NLRC4):c.2783-48_2783-46dup	NLRC4	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1278429	NM_001199138.2(NLRC4):c.2522-86_2522-85insG	NLRC4	Insertion (intron variant)	not specified +1 more	GBenign
Select item 1227975	NM_001199138.2(NLRC4):c.2350+73T>C	NLRC4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 403236	NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 403237	NM_001199138.2(NLRC4):c.543A>C (p.Arg181=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GBenign
Select item 1221049	NM_001199138.2(NLRC4):c.1+50del	NLRC4	Deletion (intron variant)	not specified +1 more	GBenign
Select item 2628112	NM_001199138.2(NLRC4):c.1+49A>T	NLRC4	Single nucleotide variant (intron variant)	not specified	GBenign

ClinVar