Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:41244663
- GRCh38:
- Chr17:43092646
| BRCA1 | E962G, E915G, E794G, E834G, E835G, E892G, E920G, E959G, E961G, E873G, E874G, E894G, E921G, E936G, E666G, E850G, E851G, E891G, E895G, E935G, E914G | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, not specified,
not provided | Conflicting interpretations of pathogenicity
(Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6037019-6037024
- GRCh38:
- Chr7:5997388-5997393
| PMS2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr8:128750683
- GRCh38:
- Chr8:127738437
| MYC | P74A, P73A | Cholesteatoma of middle ear | other | criteria provided, single submitter |
| - GRCh37:
- Chr8:128750625
- GRCh38:
- Chr8:127738379
| MYC | E54D, E53D | Burkitt lymphoma | Pathogenic
(Sep 1, 1993) | no assertion criteria provided |
| - GRCh37:
- Chr8:128750765
- GRCh38:
- Chr8:127738519
| MYC | N101T, N100T | Neoplasm, Burkitt lymphoma | Pathogenic/Likely pathogenic
(Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr8:128750677
- GRCh38:
- Chr8:127738431
| MYC | P72S, P71S | Burkitt lymphoma | Pathogenic
(Sep 1, 1993) | no assertion criteria provided |