| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BLZF1, CCDC181 (H491Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BLZF1, CCDC181 (R460I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BLZF1, CCDC181 (R463W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BLZF1, CCDC181 (R485H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
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