Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:73961603-73961605
- GRCh38:
- Chr2:73734476-73734478
| TPRKB | R31del | Galloway-Mowat syndrome 5 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr2:73957124
- GRCh38:
- Chr2:73729997
| TPRKB | | Galloway-Mowat syndrome 5, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:73957738
- GRCh38:
- Chr2:73730611
| TPRKB | | not provided, Galloway-Mowat syndrome 5 | Benign/Likely benign
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:73957152
- GRCh38:
- Chr2:73730025
| TPRKB | Y149C, Y131C, Y188C, Y116C | Galloway-Mowat syndrome 5 | Pathogenic
(Oct 27, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr2:73957721
- GRCh38:
- Chr2:73730594
| TPRKB | L136P, L103P, L175P, L118P | Nephrotic syndrome, Galloway-Mowat syndrome 5 | Conflicting interpretations of pathogenicity
(Nov 10, 2017) | no assertion criteria provided |