Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | Multiple sclerosis, susceptibility to | |
| | | Deletion (nonsense +1 more) | Multiple sclerosis, susceptibility to | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple sclerosis, susceptibility to | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene