Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:110644440-110644441
- GRCh38:
- ChrX:111401212-111401213
| DCX | L162fs, L243fs | Subcortical band heterotopia | Pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2541604
- GRCh38:
- Chr17:2638310
| PAFAH1B1 | R8* | not provided, Lissencephaly due to LIS1 mutation, Intellectual disability
| Conflicting interpretations of pathogenicity
(Dec 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:2577404
- GRCh38:
- Chr17:2674110
| PAFAH1B1 | R241P | not provided | Likely pathogenic
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573562
- GRCh38:
- Chr17:2670268
| PAFAH1B1 | S169P | Subcortical band heterotopia | Pathogenic
(Aug 14, 2001) | no assertion criteria provided |