| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Duplication (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Duplication (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Microsatellite (frameshift variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice acceptor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Microsatellite (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Duplication (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (nonsense) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice acceptor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Duplication (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1A | |