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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMGNT1, TSPAN1
(R470K +2 more)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
PAH
(Y414C)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R408W)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(V399A)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(K320N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PAH
(H271Y)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
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