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Items: 2

  • The following terms were not found in ClinVar: Benzyloxy, methoxyindole.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH7A1
(A462fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ALDH7A1
(Y326S +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyridoxine-dependent epilepsy
GPathogenic