If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | association | protective | risk factor | total |
|---|---|---|---|---|---|---|---|---|
| 0 | 4 | 0 | 0 | 0 | 3 | 1 | 3 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | likely pathogenic | association | protective | risk factor | total |
|---|---|---|---|---|---|
| intergenic | 0 | 3 | 0 | 2 | 5 |
| NR0B2, NUDC | 3 | 0 | 0 | 0 | 3 |
| ADAR | 0 | 0 | 1 | 0 | 1 |
| CYP2A7, LOC110673974 | 1 | 0 | 0 | 0 | 1 |
| KCNB2 | 0 | 0 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 3
| Condition | likely pathogenic | association | protective | risk factor | total |
|---|---|---|---|---|---|
| APC-mutation negative familial colorectal cancer | 4 | 0 | 0 | 0 | 4 |
| Colorectal cancer | 0 | 0 | 1 | 3 | 4 |
| Carcinoma of colon | 0 | 3 | 0 | 0 | 3 |