Table 1.
Gene | Chromosome | Position | Variant type | Predicted effect |
---|---|---|---|---|
FGFR1 | 8p11.23 | Exons 10–18 | Duplication | Pathogenic |
ARID1A | 1p36.11 | p.P21_S22INSPP | Insertion/deletion | VUS |
ARID1B | 6q25.3 | p.C251G | Missense mutation | VUS |
CHEK2 | 22q12.1 | p.T367fs*15 | Frameshift mutation | VUS |
EPHA5 | 4q13.2 | p.D348G | Missense mutation | VUS |
MLL2 | 12q13.12 | p.E5292D | Missense mutation | VUS |
VUS, variant of unknown significance.