| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Deletion (inframe_deletion +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
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