Links from MedGen
Items: 9
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr12:75444377
- GRCh38:
- Chr12:75050597
| KCNC2 | P470T | Developmental and epileptic encephalopathy 103 | Uncertain significance
(Nov 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:75444622
- GRCh38:
- Chr12:75050842
| KCNC2 | F388S | Developmental and epileptic encephalopathy 103 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr12:75444476
- GRCh38:
- Chr12:75050696
| KCNC2 | | Developmental and epileptic encephalopathy 103 | Pathogenic
(Jun 15, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:75601360
- GRCh38:
- Chr12:75207580
| KCNC2 | | Developmental and epileptic encephalopathy 103 | Pathogenic
(Jun 15, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:75601389
- GRCh38:
- Chr12:75207609
| KCNC2 | | Developmental and epileptic encephalopathy 103 | Pathogenic
(Jun 15, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:75601265
- GRCh38:
- Chr12:75207485
| KCNC2 | | Developmental and epileptic encephalopathy 103 | Pathogenic
(Jun 15, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:75444374
- GRCh38:
- Chr12:75050594
| KCNC2 | V471L | Developmental and epileptic encephalopathy 103 | Pathogenic
(Jun 15, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr12:75444733
- GRCh38:
- Chr12:75050953
| KCNC2 | R351K | not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:75444377
- GRCh38:
- Chr12:75050597
| KCNC2 | P470S | Developmental and epileptic encephalopathy 103, not provided | Conflicting interpretations of pathogenicity
(Nov 29, 2022) | criteria provided, conflicting interpretations |