Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr22:29682903
- GRCh38:
- Chr22:29286914
| EWSR1 | | Ewing sarcoma, not provided | Benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| | ERG, EWSR1 | | Neurofibromatosis, type 1, Ewing sarcoma | Pathogenic
(Sep 4, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr17:29670150
- GRCh38:
- Chr17:31343132
| NF1 | K2375*, K2396* | Neurofibromatosis, type 1 | Pathogenic
(Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:52442096
- GRCh38:
- Chr3:52408080
| BAP1 | | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Ewing sarcoma
| Conflicting interpretations of pathogenicity
(Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29665757
- GRCh38:
- Chr17:31338739
| NF1 | Y2264*, Y2285* | NF1-related condition, Hereditary cancer-predisposing syndrome, not provided,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Pathogenic
(Jul 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:58143008
- GRCh38:
- Chr12:57749225
| CDK4, TSPAN31 | S259L | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
Ewing sarcoma, Melanoma, cutaneous malignant, susceptibility to, 3 | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |