"Gharavi Laboratory, Columbia University"[submitter] AND "SLC7A9"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562455	NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)	SLC7A9 (Y451*)	Single nucleotide variant (nonsense)	Cystinuria +1 more	GPathogenic
Select item 591733	NM_014270.5(SLC7A9):c.692C>T (p.Ala231Val)	SLC7A9 (A231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591397	NM_014270.5(SLC7A9):c.496_510del (p.Asn166_Val170del)	SLC7A9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591892	NM_014270.5(SLC7A9):c.332T>C (p.Leu111Pro)	SLC7A9 (L111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562447	NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr)	SLC7A9 (A109T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562432	NM_014270.5(SLC7A9):c.141del (p.Ile48fs)	SLC7A9 (I48fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

ClinVar