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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH7A1
Single nucleotide variant
(splice acceptor variant)
Pyridoxine-dependent epilepsy
+1 more
GPathogenic
ALDH7A1
(Y156C +1 more)
Single nucleotide variant
(missense variant)
Pyridoxine-dependent epilepsy
+1 more
GConflicting classifications of pathogenicity