Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | Hypophosphatemia | |
| | | Single nucleotide variant (splice donor variant) | Hypophosphatemia | |
| | | Single nucleotide variant (missense variant) | Hypophosphatemia | |
| | LOC130060199, LOC130060200 +14 more | Deletion (genic upstream transcript variant) | Intellectual disability +29 more | |
| | | Indel (missense variant) | Adult hypophosphatasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | NHERF1-related condition +2 more | |
Click to view in NCBI Gene