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Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
Microsatellite
(frameshift variant +1 more)
Phenylketonuria
GLikely pathogenic
PAH
Single nucleotide variant
(splice donor variant)
Phenylketonuria
GPathogenic
PAH
(Q429P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GBenign
PAH
(D415N)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GBenign
PAH
(Y414C)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R413P)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R408Q)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R408W)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(A404P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAH
(A403V)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(splice acceptor variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAH
(R400T)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GPathogenic
PAH
(E390G)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(V388M)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(Y386H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GBenign
PAH
(T380M)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(Y356*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely pathogenic
PAH
(G352fs)
Deletion
(frameshift variant)
Phenylketonuria
GPathogenic
PAH
(S349P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAH
(L348V)
Single nucleotide variant
(missense variant)
PAH-related condition
+4 more
GPathogenic
PAH
(K335E)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GUncertain significance
PAH
(T328I)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
PAH
(Y325C)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
Single nucleotide variant
(splice acceptor variant)
Phenylketonuria
GLikely pathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GBenign
PAH
(E319*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PAH
(A309V)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely pathogenic
LOC126861615, PAH
Single nucleotide variant
(splice donor variant)
Phenylketonuria
GPathogenic
LOC126861615, PAH
(A300S)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
LOC126861615, PAH
(F299C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
LOC126861615, PAH
(R297H)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
LOC126861615, PAH
(I283F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely pathogenic
PAH
(P281L)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(P281S)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(E280K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
PAH
(Y277D)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R270K)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(I269fs)
Deletion
(frameshift variant)
Phenylketonuria
GPathogenic
PAH
(I269L)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R261Q)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R261*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GPathogenic
PAH
(R252Q)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R252W)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(L249F)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(G247V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GBenign
PAH
(V245A)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(V245L)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R243Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PAH
(R243*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GPathogenic
PAH
(R241C)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(G239V)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GBenign
PAH
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PAH
(Y216*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GPathogenic
PAH
(L213P)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(C203S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAH
(L197W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAH
(Y179N)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(E178G)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R176L)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R176*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GPathogenic
PAH
(I174V)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
Duplication
(intron variant)
not provided
+2 more
GBenign/Likely benign
PAH
(H170D)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R169H)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(Y168fs)
Deletion
(frameshift variant)
Phenylketonuria
GPathogenic
PAH
(N167I)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(R158Q)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R155P)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
Single nucleotide variant
(splice acceptor variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(splice donor variant)
Phenylketonuria
GPathogenic
PAH
(P147L)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(W120fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAH
(P119L)
Single nucleotide variant
(missense variant)
Phenylketonuria
+1 more
GConflicting classifications of pathogenicity
PAH
(P119S)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(R111*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GPathogenic
PAH
Deletion
(inframe_deletion)
Phenylketonuria
GUncertain significance
PAH
(A104D)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(I95del)
Microsatellite
(inframe_deletion)
Phenylketonuria
GPathogenic
PAH
(D84Y)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(E76G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAH
(R68S)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(I65T)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(E57K)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GBenign
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