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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
Single nucleotide variant
(splice donor variant)
Phenylketonuria
GPathogenic
PAH
(R408W)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GPathogenic
PAH
(P281L)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(R261Q)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R158Q)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(I65T)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
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