| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Carney-Stratakis syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex II deficiency, nuclear type 1 +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene