Links from PubMed
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (nonsense) | Melnick-Fraser syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +4 more | |
| | | Duplication (frameshift variant) | Branchiootorenal syndrome 1 | |
Click to view in NCBI Gene