"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FAH"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371005	NM_000137.4(FAH):c.2T>A (p.Met1Lys)	FAH (M1K)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I	GLikely pathogenic
Select item 1453896	NM_000137.4(FAH):c.191del (p.Gln64fs)	FAH (Q64fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 21054	NM_000137.4(FAH):c.192G>T (p.Gln64His)	FAH (Q64H)	Single nucleotide variant (missense variant)	T-substance anomaly +3 more	GPathogenic
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 990299	NM_000137.4(FAH):c.341C>T (p.Thr114Met)	FAH, LOC112272621 (T114M)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 92445	NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	FAH (W152*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 887284	NM_000137.4(FAH):c.462C>A (p.His154Gln)	FAH (H154Q)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	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 851025	NM_000137.4(FAH):c.606+1G>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
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 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 576751	NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)	FAH (G343W)	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)	FAH-related disorder +2 more	GPathogenic
Select item 965540	NM_000137.4(FAH):c.1193G>A (p.Gly398Glu)	FAH (G398E)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GUncertain significance