| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC111674474, LOC111674475 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LOC129999653, LOC129999654 +1380 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999666, LOC129999667 +1052 more | Copy number gain | See cases | |
| | TMEM140, TMEM176A +1046 more | Copy number gain | See cases | |
| | LOC129999503, LOC129999504 +1025 more | Copy number gain | See cases | |
| | LINC00996, LINC01003 +1025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | WDR86, WDR86-AS1 +944 more | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999755, LOC129999756 +573 more | Copy number loss | See cases | |
| | LOC105375556, LOC105375589 +540 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860247, LOC126860248 +526 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999582, LOC129999583 +407 more | Copy number loss | See cases | |
| | LOC129999632, LOC129999633 +375 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABCF2, ABCF2-H2BK1 +315 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Holoprosencephaly 3 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999734, MNX1 +1 more | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript 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 | |
| | | Single nucleotide variant (splice donor variant) | Currarino triad | |
| | | Single nucleotide variant (synonymous variant) | Currarino triad | |
| | MNX1, MNX1-AS2 (Q72E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MNX1, MNX1-AS2 (E282* +1 more) | Single nucleotide variant (nonsense) | Currarino triad | |
| | MNX1, MNX1-AS2 (L278V +1 more) | Single nucleotide variant (missense variant) | MNX1-related disorder | |
| | MNX1, MNX1-AS2 (L278F +1 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | MNX1, MNX1-AS2 (S277W +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MNX1, MNX1-AS2 (R271fs +1 more) | Deletion (frameshift variant) | not provided | |
| | MNX1, MNX1-AS2 (K270Q +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | MNX1, MNX1-AS2 (Y265F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MNX1, MNX1-AS2 (F260L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MNX1, MNX1-AS2 (Q259* +1 more) | Single nucleotide variant (nonsense) | Currarino triad | |
| | MNX1, MNX1-AS2 (L256R +1 more) | Single nucleotide variant (missense variant) | MNX1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MNX1, MNX1-AS2 (Q251fs +1 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MNX1, MNX1-AS2 (T246S +1 more) | Single nucleotide variant (missense variant) | Currarino triad | |
| | MNX1, MNX1-AS2 (L238M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MNX1, MNX1-AS2 (A21fs +1 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |