| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +2 more | GPathogenic/Likely pathogenic/Likely risk allele |
| | | Single nucleotide variant (splice donor variant) | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | |
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