| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hirschsprung disease, susceptibility to, 4 +2 more | |
Click to view in NCBI Gene