| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SMARCB1-related BAFopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant +1 more) | Schwannomatosis 1 | |
| | | Deletion (splice acceptor variant) | Schwannomatosis 1 | |
| | | Single nucleotide variant (nonsense) | Schwannomatosis 1, somatic | |
| | | Deletion (frameshift variant) | Rhabdoid tumor predisposition syndrome 1 | |
| | | Duplication (splice acceptor variant +1 more) | Schwannomatosis 1 +1 more | |
| | | Deletion (frameshift variant) | Malignant rhabdoid tumor, somatic | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome | |
| | | Microsatellite (inframe_deletion) | Intellectual disability, autosomal dominant 15 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Malignant rhabdoid tumor, somatic | |
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