Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr9:140055547
- GRCh38:
- Chr9:137161095
| GRIN1 | P413T, P434T | Developmental and epileptic encephalopathy 101 | Uncertain significance
(Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:140057099
- GRCh38:
- Chr9:137162647
| GRIN1 | M641L, M662L | Intellectual disability, autosomal dominant 8 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:140040177
- GRCh38:
- Chr9:137145725
| GRIN1 | | Developmental and epileptic encephalopathy 101 | Pathogenic
(Mar 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr9:140051478
- GRCh38:
- Chr9:137157026
| GRIN1 | | Intellectual disability, autosomal dominant 8, Intellectual disability, autosomal dominant 8, Developmental and epileptic encephalopathy 101,
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Conflicting interpretations of pathogenicity
(Mar 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:140051183
- GRCh38:
- Chr9:137156731
| GRIN1 | Y245F, Y266F | Intellectual disability, autosomal dominant 8, Intellectual disability, autosomal dominant 8, Developmental and epileptic encephalopathy 101,
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, not provided | Uncertain significance
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:140056657
- GRCh38:
- Chr9:137162205
| GRIN1 | Q556*, Q577* | Developmental and epileptic encephalopathy 101 | Pathogenic
(Mar 25, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr9:140040174
- GRCh38:
- Chr9:137145722
| GRIN1 | | Intellectual disability, autosomal dominant 8, not provided, Intellectual disability, autosomal dominant 8,
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, Developmental and epileptic encephalopathy 101 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |