| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Rabson-Mendenhall syndrome | |
| | | Single nucleotide variant (missense variant) | Hyperinsulinism due to INSR deficiency +4 more | |
| | | Single nucleotide variant (intron variant) | Insulin-resistant diabetes mellitus AND acanthosis nigricans | |
Click to view in NCBI Gene