| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Blau syndrome +1 more | GConflicting classifications of pathogenicity |
| | CYLD-AS1, NOD2 (R1019* +1 more) | Single nucleotide variant (nonsense +1 more) | Blau syndrome | |
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