Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr22:22127182
- GRCh38:
- Chr22:21772893
| MAPK1 | Y316H | Noonan syndrome 13 | Likely pathogenic
(Nov 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:22162100
- GRCh38:
- Chr22:21807811
| MAPK1 | A52D | Noonan syndrome 13 | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:22142639
- GRCh38:
- Chr22:21788350
| MAPK1 | I255V | Noonan syndrome 13 | Likely pathogenic
(Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:22127175
- GRCh38:
- Chr22:21772886
| MAPK1 | D318G | not provided, Abnormal facial shape, Specific learning disability,
Atypical behavior, Heart, malformation of, Intellectual disability
| Pathogenic
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:22127176
- GRCh38:
- Chr22:21772887
| MAPK1 | D318N | Abnormal facial shape, Specific learning disability, Atypical behavior,
Heart, malformation of, Intellectual disability | Pathogenic
(Apr 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:22153389
- GRCh38:
- Chr22:21799100
| MAPK1 | A174V | Heart, malformation of, Macrocephaly, Abnormal facial shape,
Specific learning disability, Atypical behavior, not provided
| Pathogenic
(Jul 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:22162034
- GRCh38:
- Chr22:21807745
| MAPK1 | I74N | Abnormal facial shape, Specific learning disability, Short stature,
Atypical behavior, Microcephaly, Intellectual disability
| Pathogenic
(Apr 1, 2020) | criteria provided, single submitter |