Links from MedGen
Items: 17
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | Hypermanganesemia with dystonia 2 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypermanganesemia with dystonia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperostosis cranialis interna +3 more | |
| | | Single nucleotide variant (missense variant) | Hyperostosis cranialis interna +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hyperostosis cranialis interna +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hypermanganesemia with dystonia 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypermanganesemia with dystonia 2 | |
| | | Single nucleotide variant (nonsense) | Hypermanganesemia with dystonia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypermanganesemia with dystonia 2 | |
| | | Single nucleotide variant (missense variant) | Hypermanganesemia with dystonia 2 | |
| | | Deletion (frameshift variant +1 more) | Hypermanganesemia with dystonia 2 | |
| | | Single nucleotide variant (nonsense) | Hypermanganesemia with dystonia 2 | |
| | | Single nucleotide variant (missense variant) | Hypermanganesemia with dystonia 2 | |
Click to view in NCBI Gene