Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr20:62679683
- GRCh38:
- Chr20:64048330
| SOX18 | L331F | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr20:62679660
- GRCh38:
- Chr20:64048307
| SOX18 | | not provided, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
| Likely benign
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:62679525
- GRCh38:
- Chr20:64048172
| SOX18 | | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome, not provided
| Likely benign
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:62679962
- GRCh38:
- Chr20:64048609
| SOX18 | E238* | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | Pathogenic
(Aug 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:62680627
- GRCh38:
- Chr20:64049274
| SOX18 | | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome, not provided,
not specified | Benign/Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:62679954
- GRCh38:
- Chr20:64048601
| SOX18 | C240* | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | Pathogenic
(Apr 2, 2014) | no assertion criteria provided |