Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr3:52437211
- GRCh38:
- Chr3:52403195
| BAP1 | E611D | BAP1-related condition, not provided, Ganglioglioma,
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome | Uncertain significance
(Jun 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29665752-29665755
- GRCh38:
- Chr17:31338734-31338737
| NF1 | Y2285fs | Hereditary cancer-predisposing syndrome, not specified, not provided,
Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1 | Pathogenic
(Aug 7, 2023) | criteria provided, multiple submitters, no conflicts |