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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLPBP
(Q106* +2 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GPathogenic
PLPBP
(R203W +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(R189* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
PLPBP
(R241Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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