| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CREBBP, LOC130058353 (I539T +1 more) | Single nucleotide variant (missense variant) | CREBBP-related disorder | |
| | CREBBP, LOC130058353 (S537G +1 more) | Single nucleotide variant (missense variant) | CREBBP-related disorder | |
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