| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | TUBGCP2, LOC126861106 (E181K +1 more) | Single nucleotide variant (missense variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (intron variant) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | LOC126861106, TUBGCP2 (Q213P +2 more) | Single nucleotide variant (missense variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (missense variant +2 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (intron variant) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (intron variant) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Duplication (intron variant) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (intron variant) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Abnormality of neuronal migration +1 more | |
| | LOC126861106, TUBGCP2 (R297C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of neuronal migration +1 more | GConflicting classifications of pathogenicity |
| | LOC126861106, TUBGCP2 (R361C +2 more) | Single nucleotide variant (missense variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +1 more | |