Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:11169045
- GRCh38:
- Chr19:11058369
| SMARCA4 | | Rhabdoid tumor predisposition syndrome 2 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578238-7578255
- GRCh38:
- Chr17:7674920-7674937
| TP53 | | Small cell carcinoma of the ovary, hypercalcemic type | Likely pathogenic
(Jun 1, 2018) | no assertion criteria provided |