| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Regional enteritis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Yao syndrome +6 more | GConflicting classifications of pathogenicity; association |
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