Table 1.
Pathogenic mutations outside NF2.
| Patient | Gene | Variant genomic syntax (protein syntax) | Variant allelic fraction (%) | Consequence |
|---|---|---|---|---|
| Grade 1–03 | SMAD2 | 18:45395609C > CCTACCTGGTGTCTCAACTCTCTGATAGTGGTAAAAAAGGGAAAAAGCCCCAATTTTT (splice region) | 6.84 | Splice |
| Grade 1–03 | GATA3 | 10:8115779C > A (p.Cys376Ter) | 3.29 | Missense |
| Grade 2–10 | CHEK2 | 22:29121087A > G (p.Ile200Thr) | 55.84 | Missense |
| Grade 2–11 | SMARCB1 | 22:24143269G > A (splice donor) | 70.79 | Nonsense |
| Grade 3–05 | BRAF | 7:140453136A > T (p.Val600Glu) | 56.05 | Missense |
| Grade 3–05 | TERT | 5:1295228G > A (promoter) | 29.95 | Promoter |
| Grade 3–05 | FUBP1 | 1:78414837T > C (splice) | 41.21 | Splice |