Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr21:33974671
- GRCh38:
- Chr21:32602361
| CFAP298-TCP10L, CFAP298 | Q126*, Q225* | Primary ciliary dyskinesia 26, not provided | Pathogenic
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:33982295
- GRCh38:
- Chr21:32609985
| CFAP298, CFAP298-TCP10L | H54Y | Primary ciliary dyskinesia 26 | Uncertain significance
(Mar 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:33974623
- GRCh38:
- Chr21:32602313
| CFAP298, CFAP298-TCP10L | Q142*, Q241* | Primary ciliary dyskinesia 26 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr21:33975570-33975571
- GRCh38:
- Chr21:32603260-32603261
| CFAP298, CFAP298-TCP10L | Q91fs, Q190fs | Primary ciliary dyskinesia 26, not provided | Pathogenic
(Jul 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:33974609
- GRCh38:
- Chr21:32602299
| CFAP298, CFAP298-TCP10L | Y245*, Y146* | not provided | Pathogenic
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:33974251-33974254
- GRCh38:
- Chr21:32601941-32601944
| CFAP298, CFAP298-TCP10L | | Primary ciliary dyskinesia 26 | Pathogenic
(Oct 3, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr21:33982163
- GRCh38:
- Chr21:32609853
| CFAP298-TCP10L, CFAP298 | R98* | Primary ciliary dyskinesia 26, not provided | Pathogenic/Likely pathogenic
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |