U.S. flag

An official website of the United States government

Search results

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAH
(M1V)
Single nucleotide variant
(missense variant +1 more)
Tyrosinemia type I
+3 more
GPathogenic
FAH
(M1I)
Single nucleotide variant
(missense variant +1 more)
Tyrosinemia type I
GPathogenic
FAH
(F12L)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
(N16I)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GLikely pathogenic
FAH
(I36T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FAH
(Q64H)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+3 more
GPathogenic
FAH
Single nucleotide variant
(splice donor variant)
Tyrosinemia type I
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
FAH
(R142G)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FAH
(V166G)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GLikely pathogenic
FAH
(R174*)
Single nucleotide variant
(nonsense)
Tyrosinemia type I
+1 more
GPathogenic/Likely pathogenic
FAH
Deletion
(splice donor variant)
Tyrosinemia type I
+1 more
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(splice acceptor variant)
Tyrosinemia type I
+1 more
GPathogenic
FAH
(G191fs)
Indel
(frameshift variant)
Tyrosinemia type I
GLikely pathogenic
FAH
(C193R)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GPathogenic/Likely pathogenic
FAH
(C193Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAH
(I216M)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
(L230V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAH
Single nucleotide variant
(splice acceptor variant)
Tyrosinemia type I
GPathogenic
FAH
Single nucleotide variant
(splice acceptor variant)
Tyrosinemia type I
GPathogenic
FAH
(R237*)
Single nucleotide variant
(nonsense)
Tyrosinemia type I
+1 more
GPathogenic
FAH
(G248R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
FAH
(P261L)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+1 more
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(splice donor variant)
Tyrosinemia type I
+1 more
GLikely pathogenic
FAH
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
FAH
(T325M)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GPathogenic/Likely pathogenic
FAH
(G337S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
(G343L)
Indel
(missense variant)
not specified
GUncertain significance
FAH
(G343W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+2 more
GBenign
FAH
Single nucleotide variant
(intron variant)
Tyrosinemia type I
+3 more
GPathogenic
FAH
(E357*)
Single nucleotide variant
(nonsense)
Tyrosinemia type I
+2 more
GPathogenic
FAH
(E364*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
FAH
(G398E)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+1 more
GUncertain significance
FAH
(Y401*)
Single nucleotide variant
(nonsense)
Tyrosinemia type I
GPathogenic/Likely pathogenic
External link. Please review our privacy policy.