U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH7A1
(R519K +2 more)
Single nucleotide variant
(missense variant)
Pyridoxine-dependent epilepsy
GConflicting classifications of pathogenicity
ALDH7A1
(L407fs +2 more)
Insertion
(frameshift variant)
Pyridoxine-dependent epilepsy
GPathogenic
ALDH7A1
(R335* +1 more)
Single nucleotide variant
(nonsense)
Pyridoxine-dependent epilepsy
GPathogenic
Format
Sort by
Choose Destination