| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Baraitser-winter syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Baraitser-winter syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Baraitser-winter syndrome 2 | |
| | ACTG1, LOC130061940 (P32H) | Single nucleotide variant (missense variant +1 more) | Baraitser-winter syndrome 2 | |
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