NBK1515 AND genereviews[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300235	NM_000137.4(FAH):c.103G>A (p.Ala35Thr)	FAH (A35T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	Gnot provided
Select item 21054	NM_000137.4(FAH):c.192G>T (p.Gln64His)	FAH (Q64H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 928613	NM_000137.4(FAH):c.424A>G (p.Arg142Gly)	FAH (R142G)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
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 21056	NM_000137.4(FAH):c.607-6T>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GUncertain significance
Select item 21057	NM_000137.4(FAH):c.698A>T (p.Asp233Val)	FAH (D233V)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic
Select item 21058	NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	FAH (P261L)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 11873	NM_000137.4(FAH):c.786G>A (p.Trp262Ter)	FAH (W262*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic
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 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 11870	NM_000137.4(FAH):c.1062+5G>A	FAH	Single nucleotide variant (intron variant)	FAH-related disorder +2 more	GPathogenic