| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Schwannomatosis 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Rhabdoid tumor predisposition syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Schwannomatosis 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
Click to view in NCBI Gene