Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leukodystrophy, hypomyelinating, 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Leukodystrophy, hypomyelinating, 22 | |
| | | Single nucleotide variant (stop lost) | Leukodystrophy, hypomyelinating, 22 | |
| | | Single nucleotide variant (stop lost) | Leukodystrophy, hypomyelinating, 22 | |
Click to view in NCBI Gene