| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lynch syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Duplication (frameshift variant) | Congenital diarrhea 5 with tufting enteropathy +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
Click to view in NCBI Gene