| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | See cases +8 more | |
| | | Deletion (inframe_deletion) | Macrocephaly +10 more | GPathogenic/Likely pathogenic |
| | EP300, LOC126863158 (E1011Q +1 more) | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
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