| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Pontoneocerebellar hypoplasia +2 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 4 +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Pontoneocerebellar hypoplasia +2 more | |
| | | Single nucleotide variant (intron variant) | Pontoneocerebellar hypoplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 4 +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Olivopontocerebellar hypoplasia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pontoneocerebellar hypoplasia +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Pontoneocerebellar hypoplasia +5 more | |
| | | Single nucleotide variant (missense variant) | Pontoneocerebellar hypoplasia +5 more | |