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 |
|---|---|---|---|---|---|
| 8 | 17 | 0 | 0 | 3 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 10
| Gene or gene combination | pathogenic | likely pathogenic | benign | total |
|---|---|---|---|---|
| HUWE1 | 3 | 14 | 1 | 18 |
| DDR2 | 2 | 0 | 0 | 2 |
| AQP4 | 0 | 1 | 0 | 1 |
| CDKN1C | 1 | 0 | 0 | 1 |
| DHX30 | 0 | 1 | 0 | 1 |
| GLA, RPL36A-HNRNPH2 | 0 | 0 | 1 | 1 |
| MED12 | 0 | 0 | 1 | 1 |
| NAA10 | 1 | 0 | 0 | 1 |
| PIK3CA | 1 | 0 | 0 | 1 |
| RIT1 | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 8
| Condition | pathogenic | likely pathogenic | benign | total |
|---|---|---|---|---|
| Intellectual disability, X-linked syndromic, Turner type | 3 | 14 | 1 | 18 |
| Intellectual disability | 0 | 1 | 1 | 2 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome; Noonan syndrome 8 | 1 | 1 | 0 | 2 |
| Warburg-cinotti syndrome | 2 | 0 | 0 | 2 |
| Beckwith-Wiedemann syndrome; IMAGe syndrome | 1 | 0 | 0 | 1 |
| Fabry disease | 0 | 0 | 1 | 1 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 0 | 1 | 0 | 1 |
| Ogden syndrome | 1 | 0 | 0 | 1 |