"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134371	NM_000043.6(FAS):c.46G>A (p.Ala16Thr)	FAS (A16T)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign/Likely benign
Select item 210992	NM_000043.6(FAS):c.369G>A (p.Gln123=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 522237	NM_000043.6(FAS):c.505+16C>T	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign
Select item 134374	NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	FAS (E194K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1070182	NM_000043.6(FAS):c.749G>A (p.Arg250Gln)	FAS (R229Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16505	NM_000043.6(FAS):c.749G>C (p.Arg250Pro)	FAS (R229P +1 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic

ClinVar