Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (splice acceptor variant) | Dystonia 30 | |
| | | Single nucleotide variant (synonymous variant) | Dystonia 30 | |
| | | Deletion (frameshift variant) | Dystonia 30 | |
| | | Single nucleotide variant (missense variant) | Dystonia 30 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Dystonia 30 +1 more | |
| | PTPRA, VPS16 (N519fs +1 more) | Insertion (5 prime UTR variant +1 more) | Dystonia 30 | |
| | | Single nucleotide variant (nonsense) | Dystonia 30 +1 more | |
| | | Single nucleotide variant (intron variant) | Dystonia 30 | |
| | | Single nucleotide variant (missense variant) | Dystonia 30 | |
| | | Indel (frameshift variant) | Dystonia 30 | |
| | | Single nucleotide variant (splice donor variant) | Dystonia 30 | |
| | | Duplication (frameshift variant +1 more) | Dystonia 30 | |
| | | Single nucleotide variant (nonsense) | Dystonia 30 +1 more | GConflicting classifications of pathogenicity |
| | PTPRA, VPS16 (R491* +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Dystonia 30 +1 more | |
| | | Single nucleotide variant (nonsense) | VPS16-associated disorder | |
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