| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Pseudohypoparathyroidism type 1B +4 more | |
| | | Deletion (splice donor variant) | Pseudopseudohypoparathyroidism | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene