Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr14:74970193
- GRCh38:
- Chr14:74503490
| LTBP2 | M1567V | not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:74975446
- GRCh38:
- Chr14:74508743
| LTBP2 | | Weill-Marchesani syndrome, not provided, Glaucoma 3, primary congenital, D
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:74995814
- GRCh38:
- Chr14:74529111
| LTBP2 | I667L | Pseudoexfoliation glaucoma | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:75018994
- GRCh38:
- Chr14:74552291
| LTBP2 | P432L | Weill-Marchesani syndrome 3, Glaucoma 3, primary congenital, D, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma,
Weill-Marchesani syndrome, not provided, Weill-Marchesani syndrome 3,
Glaucoma 3, primary congenital, D | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |