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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
Single nucleotide variant
(splice donor variant)
Phenylketonuria
GPathogenic
PAH
(Y414C)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(E390G)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
LOC126861615, PAH
Single nucleotide variant
(splice donor variant)
Phenylketonuria
GPathogenic
LOC126861615, PAH
(A300S)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(L48S)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
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