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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAH
(A35T)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
Gnot provided
FAH
(Q64H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FAH
(R142G)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
FAH
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GUncertain significance
FAH
(D233V)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GPathogenic
FAH
(P261L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
(W262*)
Single nucleotide variant
(nonsense)
Tyrosinemia type I
GPathogenic
FAH
(G337S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
(R341W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign; other
FAH
Single nucleotide variant
(intron variant)
FAH-related condition
+2 more
GPathogenic
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