"Revvity Omics, Revvity"[submitter] AND "FAH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441332	NM_000137.4(FAH):c.485G>A (p.Arg162His)	FAH (R162H)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 11874	NM_000137.4(FAH):c.554-1G>T	FAH	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1322862	NM_000137.4(FAH):c.697del (p.Asp233fs)	FAH (D233fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 21058	NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	FAH (P261L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2441333	NM_000137.4(FAH):c.847C>A (p.Pro283Thr)	FAH (P283T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2441334	NM_000137.4(FAH):c.991A>G (p.Thr331Ala)	FAH (T331A)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 11869	NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	FAH (G337S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11870	NM_000137.4(FAH):c.1062+5G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic

ClinVar