| - GRCh37:
- Chr5:54527541-54527542
- GRCh38:
- Chr5:55231713-55231714
| CCNO | | Primary ciliary dyskinesia 29 | Uncertain significance
(Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:54528208
- GRCh38:
- Chr5:55232380
| CCNO | L183* | Primary ciliary dyskinesia 29 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:54528188-54528192
- GRCh38:
- Chr5:55232360-55232364
| CCNO | | Primary ciliary dyskinesia 29 | Likely pathogenic
(Dec 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:54529087
- GRCh38:
- Chr5:55233259
| CCNO, LOC129993895 | P89A | Primary ciliary dyskinesia 29, Inborn genetic diseases | Uncertain significance
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:54527350
- GRCh38:
- Chr5:55231522
| CCNO | L303fs | Primary ciliary dyskinesia 29 | Pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:54528984
- GRCh38:
- Chr5:55233156
| CCNO | A123V | Primary ciliary dyskinesia 29 | Uncertain significance
(Aug 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:54527292
- GRCh38:
- Chr5:55231464
| CCNO | L322fs | Primary ciliary dyskinesia 29 | Likely pathogenic
(Jan 27, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr5:54528331
- GRCh38:
- Chr5:55232503
| CCNO | P142fs | Primary ciliary dyskinesia 29 | Likely pathogenic
(Aug 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr5:54529083-54529084
- GRCh38:
- Chr5:55233255-55233256
| CCNO, LOC129993895 | V90fs | not provided, Ciliary dyskinesia | Pathogenic
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:54529218
- GRCh38:
- Chr5:55233390
| CCNO | P45H | Ciliary dyskinesia, not provided, Primary ciliary dyskinesia 29
| Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:54528265
- GRCh38:
- Chr5:55232437
| CCNO | F164S | Ciliary dyskinesia, Primary ciliary dyskinesia 29 | Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:54528274-54528275
- GRCh38:
- Chr5:55232446-55232447
| CCNO | L161fs | Primary ciliary dyskinesia 29 | Pathogenic
(Jun 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:54529084-54529085
- GRCh38:
- Chr5:55233256-55233257
| CCNO, LOC129993895 | V90fs | Primary ciliary dyskinesia 29, Ciliary dyskinesia | Pathogenic
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:54527295
- GRCh38:
- Chr5:55231467
| CCNO | Q321* | Primary ciliary dyskinesia 29 | Pathogenic
(Jun 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:54527330
- GRCh38:
- Chr5:55231502
| CCNO | P309fs | Primary ciliary dyskinesia 29 | Pathogenic
(Jun 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:54529089-54529090
- GRCh38:
- Chr5:55233261-55233262
| CCNO, LOC129993895 | Q88fs | Primary ciliary dyskinesia 29, not provided, Ciliary dyskinesia
| Pathogenic
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:54529099-54529100
- GRCh38:
- Chr5:55233271-55233272
| LOC129993895, CCNO | G85fs | Primary ciliary dyskinesia 29, Ciliary dyskinesia | Pathogenic
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |