Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:115258757
- GRCh38:
- Chr1:114716136
| NRAS | V9I | RASopathy, Linear nevus sebaceous syndrome, Noonan syndrome 6,
Thyroid cancer, nonmedullary, 2, Colorectal cancer, Large congenital melanocytic nevus,
Neurocutaneous melanocytosis, Epidermal nevus, Autoimmune lymphoproliferative syndrome type 4
| Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:115256530
- GRCh38:
- Chr1:114713909
| NRAS | Q61K | not provided, Large congenital melanocytic nevus, RASopathy
| Conflicting interpretations of pathogenicity
(May 21, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:115256529
- GRCh38:
- Chr1:114713908
| NRAS | Q61R | not provided, Non-small cell lung carcinoma | Pathogenic
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |