"OMIM"[submitter] AND "FAH"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11865	NM_000137.4(FAH):c.47A>T (p.Asn16Ile)	FAH (N16I)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 11866	NM_000137.4(FAH):c.401C>A (p.Ala134Asp)	FAH (A134D)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely 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 11873	NM_000137.4(FAH):c.786G>A (p.Trp262Ter)	FAH (W262*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic
Select item 11875	NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	FAH (Q279R)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
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)	not provided +1 more	GBenign/Likely benign; other
Select item 11870	NM_000137.4(FAH):c.1062+5G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 11871	NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)	FAH (E357*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 11867	NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)	FAH (E364*)	Single nucleotide variant (nonsense)	Tyrosinemia type I +1 more	GPathogenic
Select item 11872	NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	FAH (R381G)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic