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