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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139197	NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1180590	NM_003982.4(SLC7A7):c.1430-55T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1292166	NM_003982.4(SLC7A7):c.998+113T>A	SLC7A7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1292095	NM_003982.4(SLC7A7):c.894+103A>G	SLC7A7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 139196	NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1177844	NM_003982.4(SLC7A7):c.500-32T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 139199	NM_003982.4(SLC7A7):c.498T>C (p.Ile166=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 139198	NM_003982.4(SLC7A7):c.159G>A (p.Ser53=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

ClinVar