| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC113788277, PLPBP (G49R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC113788277, PLPBP (R18W +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
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