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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAH
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
FAH
(I45V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
(I45T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAH
(Q64H)
Single nucleotide variant
(missense variant)
T-substance anomaly
+2 more
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+2 more
GConflicting classifications of pathogenicity
FAH
(A81V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FAH
(V91M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAH
(D99G)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
(E101G)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
(V137I)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
(G138R)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
+1 more
GUncertain significance
FAH
(W152*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FAH
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
FAH
(V189I)
Single nucleotide variant
(missense variant)
FAH-related condition
+3 more
GConflicting classifications of pathogenicity
FAH
(L195V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAH
(V206I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
(G207D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAH
(P215L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAH
(N232K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAH
Microsatellite
(intron variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
(A236V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
(I239F)
Single nucleotide variant
(missense variant)
FAH-related condition
+3 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FAH
(T258A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
(P261L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
(P281T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+1 more
GBenign
FAH
(A312T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
(Y321*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
(R341W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign; other
FAH
(R341Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAH
(G343W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FAH
(I351V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
FAH
(G353R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic
FAH
(G360D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
FAH
(T370M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
(D399N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAH
(R402C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FAH
(R402H)
Single nucleotide variant
(missense variant)
FAH-related condition
+3 more
GConflicting classifications of pathogenicity
FAH
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
FAH
(F405H)
Indel
(missense variant)
Tyrosinemia type I
+1 more
GUncertain significance
FAH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
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