"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56360	NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	SLC7A7 (R473*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 312812	NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)	SLC7A7 (I460M)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +4 more	GLikely benign
Select item 426739	NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GConflicting classifications of pathogenicity
Select item 6214	NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)	SLC7A7 (W242*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +1 more	GPathogenic
Select item 312821	NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 312827	NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar