| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Pontocerebellar hypoplasia type 6 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 6 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 6 | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +3 more) | Pontocerebellar hypoplasia type 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia type 6 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 6 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified +2 more | |
| | | Deletion (non-coding transcript variant +3 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +2 more | GPathogenic/Likely pathogenic |