| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Pontoneocerebellar hypoplasia | |
| | | Single nucleotide variant | Pontoneocerebellar hypoplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Congenital pontocerebellar hypoplasia type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | VRK1-related disorder | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Indel (missense variant) | Congenital pontocerebellar hypoplasia type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (frameshift 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 (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A +3 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Congenital pontocerebellar hypoplasia type 1 | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Microsatellite (inframe_indel +1 more) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (splice donor variant) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (splice donor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A | GConflicting classifications of pathogenicity |
| | | 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A +1 more | |
| | | Microsatellite (frameshift variant) | Pontocerebellar hypoplasia type 1A +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A +1 more | |
| | | Single nucleotide variant (missense variant) | Distal spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +1 more | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 1A +1 more | |
| | | Deletion | Congenital pontocerebellar hypoplasia type 1 | |
| | | 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 | |
| | | Microsatellite (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 (intron variant) | Pontocerebellar hypoplasia type 1A | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia type 1A | |