| | | Copy number gain | See cases | |
| | LOC129995709, LOC129995710 +642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01622, LINC02521 +558 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126859578, LOC126859579 +536 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995677, LOC129995678 +331 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (synonymous variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (intron variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (synonymous variant +1 more) | PHACTR1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PHACTR1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (synonymous variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | PHACTR1-related disorder | |
| | | Indel (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental abnormality | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Single nucleotide variant (missense variant) | PHACTR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 70 | |
| | | Deletion (intron variant) | Schizophrenia | |
| | | Copy number gain | See cases | |
| | PHACTR1, TBC1D7-LOC100130357 | Single nucleotide variant (intron variant) | PHACTR1-related disorder | |
| | PHACTR1, TBC1D7-LOC100130357 | Single nucleotide variant (intron variant) | not provided | |
| | PHACTR1, TBC1D7-LOC100130357 | Deletion (splice donor variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | TBC1D7-LOC100130357, PHACTR1 (L374M +4 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | PHACTR1, TBC1D7-LOC100130357 (N479I +4 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | LOC100130357, LOC129995804 +2 more | Deletion (intron variant) | PHACTR1-related disorder | |
| | LOC100130357, LOC129995804 +2 more (R392Q +4 more) | Single nucleotide variant (missense variant +1 more) | PHACTR1-related disorder | |
| | LOC100130357, LOC129995804 +2 more (N393S +4 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | LOC129995804, PHACTR1 +2 more (L408P +3 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | LOC100130357, PHACTR1 +1 more | Microsatellite (intron variant) | not provided | |
| | LOC100130357, PHACTR1 +1 more (R521C +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC100130357, PHACTR1 +1 more | Single nucleotide variant (synonymous variant +1 more) | PHACTR1-related disorder | |
| | LOC100130357, PHACTR1 +1 more (W519C +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC100130357, PHACTR1 +1 more (T454S +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TBC1D7-LOC100130357, PHACTR1 +1 more (A456G +4 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 70 | |
| | LOC100130357, PHACTR1 +1 more (T632S +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC100130357, PHACTR1 +1 more (L493fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | LOC100130357, PHACTR1 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | PHACTR1-related disorder | |
| | | Copy number loss | not specified | |