"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 382389	NM_000137.4(FAH):c.315-14G>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 11868	NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)	FAH (R341W)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GBenign/Likely benign; other
Select item 291101	NM_000137.4(FAH):c.1259G>A (p.Ter420=)	FAH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

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