Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | |
| | | Deletion (frameshift variant) | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | |
| | | Single nucleotide variant (missense variant) | PITUITARY HORMONE DEFICIENCY, COMBINED, 5 | |
Click to view in NCBI Gene