Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr14:75515474
- GRCh38:
- Chr14:75048771
| MLH3 | H296fs | Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:45797228
- GRCh38:
- Chr1:45331556
| MUTYH | G382D, G396D, G276D, G393D, G369D, G368D, G383D, G253D, G379D | MUTYH-related condition, Hereditary cancer-predisposing syndrome, Neoplasm of stomach,
Pilomatrixoma, Familial adenomatous polyposis 2, not provided,
Familial colorectal cancer, Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, Familial adenomatous polyposis 2,
Ovarian carcinoma | Pathogenic/Likely pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |