"GenomeConnect, ClinGen"[submitter] AND "SLC7A7"[gene] - 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 139196	NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 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 380186	NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	SLC7A7 (A91V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +3 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
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided

ClinVar