Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | Pontocerebellar hypoplasia type 8 | |
| | | Single nucleotide variant (splice acceptor variant) | Pontocerebellar hypoplasia type 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 8 | |
| | | Single nucleotide variant (missense variant +2 more) | Pontocerebellar hypoplasia type 8 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia type 8 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
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