| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | LOC126860345, LOC126860346 +1103 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000086, LOC130000087 +932 more | Copy number gain | See cases | |
| | LOC121331299, LOC121331300 +868 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000305, LOC130000306 +927 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000069, LOC130000070 +868 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000275, LOC130000276 +927 more | Copy number gain | See cases | |
| | LOC101929258, LOC101929470 +920 more | Copy number gain | See cases | |
| | LOC113788273, LOC113788274 +805 more | Copy number gain | See cases | |
| | LOC129999948, LOC129999949 +855 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000249, LOC130000250 +789 more | Copy number gain | See cases | |
| | TNFRSF10A, TNFRSF10A-DT +920 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC124174256, LOC124174257 +541 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | PLPBP-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC113788277, PLPBP (M1V +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC113788277, PLPBP (W2* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (R38K +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (A39V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (S41G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PLPBP, LOC113788277 (S41R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (M42V +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
| | LOC113788277, PLPBP (M42L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (M42L +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
| | LOC113788277, PLPBP (V13fs +1 more) | Duplication (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (G47A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (G49R +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (A16fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | LOC113788277, PLPBP (C15Y +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC113788277, PLPBP (A16T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (A16S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (R18W +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (A19V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (V24L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (V24M +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (V59E +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC113788277, PLPBP (Q26H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (A29V +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC113788277, PLPBP (R30G +1 more) | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
| | LOC113788277, PLPBP (R30Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC113788277, PLPBP (R66W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | PLPBP-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, early-onset, vitamin B6-dependent | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |