Table 3.
Variants corresponding to genes present in the panel of 565 known cancer predisposition genes from a study by Zhang et al. (2015).
| Gene ID | HL family | HL gene | HL variant | Variant type | Variant classification | HGNC approved name | CADD_PHRED | Familial syndrome | Category |
|---|---|---|---|---|---|---|---|---|---|
| 10499 | 1 | NCOA2 | 8_71316112_T_TCCTCCTCCC | Indel | Upstream | Nuclear receptor coactivator 2 | 15.56 | Other CancerGene | |
| 8880 | 1 | FUBP1 | 1_78414225_A_G | SNVs | UTR3 | Far upstream element (FUSE) binding protein 1 | 13.59 | Other CancerGene | |
| 23157 | 1 | SEPT6 | X_118751062_CGTGT_C | Indel | UTR3 | Septin 6 | 10.56 | Other CancerGene | |
| 23405 | 1 | DICER1 | 14_95560456_A_C | SNVs | Non-synonymous SNV | Dicer 1, ribonuclease type III | 24 | DICER1 syndrome, Familial Multinodular Goiter | Autosomal Dominant |
| 7430 | 1 | EZR | 6_159206584_G_A | SNVs | Non-synonymous SNV | Ezrin | 32 | Other CancerGene | |
| 604 | 3 | BCL6 | 3_187463568_C_A | SNVs | Upstream; downstream | B-cell CLL/lymphoma 6 | 13 | Other CancerGene | |
| 4026 | 3 | LPP | 3_188123978_G_T | SNVs | Stopgain SNV | LIM domain containing preferred translocation partner in lipoma | 40 | Other CancerGene | |
| 3 | LPP | 3_188123979_A_T | SNVs | Non-synonymous SNV | LIM domain containing preferred translocation partner in lipoma | 32 | Other CancerGene | ||
| 3 | LPP | 3_188608373_A_T | SNVs | UTR3 | LIM domain containing preferred translocation partner in lipoma | 10.5 | Other CancerGene | ||
| 5892 | 3 | RAD51D | 17_33428327_G_A | SNVs | Non-synonymous SNV | RAD51 paralog D | 27 | Other CancerGene | |
| 5727 | 3 | PTCH1 | 9_98270531_C_A | SNVs | Non-synonymous SNV | Patched 1 | 20.4 | Gorlin syndrome | Autosomal Dominant |