| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | MID1-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not specified +1 more | |
| | | Deletion (intron variant) | not provided | |
Click to view in NCBI Gene