Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr10:90530660
- GRCh38:
- Chr10:88770903
| LIPN | T244N | Autosomal recessive congenital ichthyosis 8, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90524237
- GRCh38:
- Chr10:88764480
| LIPN | | Autosomal recessive congenital ichthyosis 8, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90524336-90524337
- GRCh38:
- Chr10:88764579-88764580
| LIPN | E133fs | Autosomal recessive congenital ichthyosis 8 | Pathogenic
(Apr 8, 2011) | no assertion criteria provided |