Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Tatton-Brown-Rahman overgrowth syndrome +6 more | |
| | | Duplication (frameshift variant) | High myopia +7 more | |
| | | Single nucleotide variant (splice donor variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | Horseshoe kidney +13 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene