Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hypomyelinating leukodystrophy 13 | |
| | | Deletion (frameshift variant +1 more) | Hypomyelinating leukodystrophy 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypomyelinating leukodystrophy 13 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene