| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | BTBD1, LOC130057782 (P20L) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD1, LOC130057782 (S14P) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD1, LOC130057782 (A23P) | Single nucleotide variant (missense variant) | not specified | |
| | BTBD1, LOC130057782 (E17V) | Single nucleotide variant (missense variant) | not specified | |
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