| | | Single nucleotide variant (missense variant) | Currarino triad | |
| | | Single nucleotide variant (missense variant) | Currarino triad | |
| | | Single nucleotide variant (missense variant) | Currarino triad | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Currarino triad | |
| | LOC129999735, MNX1 (Y166fs) | Duplication (frameshift variant) | Currarino triad | |
| | | Single nucleotide variant (nonsense) | Currarino triad | |
| | | Single nucleotide variant (nonsense) | Currarino triad | |
| | | Single nucleotide variant (missense variant) | Currarino triad | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Currarino triad +1 more | |
| | | Single nucleotide variant (synonymous variant) | Currarino triad +1 more | |
| | | Microsatellite (inframe_deletion) | Currarino triad +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Currarino triad +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Currarino triad +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | MNX1, MNX1-AS2 (K270Q +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | Currarino triad +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC129999736, MNX1 (G149S) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Microsatellite (inframe_insertion) | Currarino triad +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Insertion (inframe_insertion) | not provided | |
| | LOC129999735, MNX1 (A170G) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Duplication (frameshift variant) | Currarino triad +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Duplication | Currarino triad | |
| | MNX1, MNX1-AS2 (E282* +1 more) | Single nucleotide variant (nonsense) | Currarino triad | |
| | | Indel | Currarino triad | |
| | MNX1, MNX1-AS2 (T246S +1 more) | Single nucleotide variant (missense variant) | Currarino triad | |
| | | Single nucleotide variant (splice donor variant) | Currarino triad | |
| | | Single nucleotide variant (splice acceptor variant) | Currarino triad | |
| | LOC129999735, MNX1 (Y164*) | Single nucleotide variant (nonsense) | Currarino triad | |
| | | Deletion (frameshift variant) | Currarino triad | |
| | MNX1, MNX1-AS2 (Q259* +1 more) | Single nucleotide variant (nonsense) | Currarino triad | |
| | | Deletion (frameshift variant) | Currarino triad | |