Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Tyrosinase-positive oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant +1 more) | GM2-ganglioside accumulation | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hydrocephalus +1 more | |
Click to view in NCBI Gene