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
PLPBP
(P87L +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
+1 more
GPathogenic/Likely pathogenic
PLPBP
Single nucleotide variant
(splice acceptor variant)
Epilepsy, early-onset, vitamin B6-dependent
+1 more
GPathogenic
PLPBP
(D72fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
Format
Sort by
Choose Destination