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 | total |
|---|---|---|---|---|---|
| 18 | 25 | 10 | 0 | 0 | 53 |
Gene and significance breakdown #
Total genes and gene combinations: 14
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| TGM1 | 6 | 5 | 2 | 13 |
| ALOX12B | 4 | 4 | 1 | 9 |
| PNPLA1 | 1 | 4 | 1 | 6 |
| ABCA12, SNHG31 | 0 | 3 | 1 | 4 |
| CYP4F22 | 0 | 2 | 2 | 4 |
| ABCA12 | 0 | 1 | 2 | 3 |
| ALOXE3 | 2 | 1 | 0 | 3 |
| SDR9C7 | 1 | 2 | 0 | 3 |
| NIPAL4 | 2 | 0 | 0 | 2 |
| SULT2B1 | 0 | 2 | 0 | 2 |
| ALOX12B, LOC130060196 | 0 | 0 | 1 | 1 |
| ALOXE3, LOC130060198 | 0 | 1 | 0 | 1 |
| CERS3 | 1 | 0 | 0 | 1 |
| GJB2 | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 10
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Autosomal recessive congenital ichthyosis 2 | 6 | 6 | 2 | 14 |
| Autosomal recessive congenital ichthyosis 1 | 6 | 5 | 2 | 13 |
| Autosomal recessive congenital ichthyosis 4B | 0 | 4 | 3 | 7 |
| Autosomal recessive congenital ichthyosis 10 | 1 | 4 | 1 | 6 |
| Autosomal recessive congenital ichthyosis 5 | 0 | 2 | 2 | 4 |
| Congenital ichthyosis of skin | 1 | 2 | 0 | 3 |
| Autosomal recessive congenital ichthyosis 6 | 2 | 0 | 0 | 2 |
| Ichthyosis, congenital, autosomal recessive 14 | 0 | 2 | 0 | 2 |
| Autosomal recessive congenital ichthyosis 9 | 1 | 0 | 0 | 1 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 | 0 | 0 | 1 |