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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH7A1
(E399Q +2 more)
Single nucleotide variant
(missense variant)
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
+3 more
GPathogenic/Likely pathogenic
ALDH7A1
(P139fs +1 more)
Deletion
(frameshift variant)
Pyridoxine-dependent epilepsy
GPathogenic