| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130067183, LOC130067184
+1 more | Deletion (genic upstream transcript variant) | Neurofibromatosis, type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Neurofibromatosis, type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Neurofibromatosis, type 2 | |
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