| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SETDB2, SETDB2-PHF11 (K408I +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | SETDB2-PHF11, SETDB2 (G404R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
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