| - GRCh37:
- Chr15:55783333-55783336
- GRCh38:
- Chr15:55491135-55491138
| DNAAF4, DNAAF4-CCPG1 | | Primary ciliary dyskinesia 25 | Pathogenic
(Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:55731670-55731779
- GRCh38:
- Chr15:55439472-55439581
| DNAAF4, DNAAF4-CCPG1 | W262fs | Primary ciliary dyskinesia 25 | Pathogenic
(Oct 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:55790469
- GRCh38:
- Chr15:55498271
| DNAAF4, DNAAF4-CCPG1 | S20C | Primary ciliary dyskinesia 25 | Uncertain significance
(Nov 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:55727162
- GRCh38:
- Chr15:55434964
| DNAAF4, DNAAF4-CCPG1 | R330W | Primary ciliary dyskinesia 25, Ciliary dyskinesia, not provided
| Conflicting interpretations of pathogenicity
(Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:55729268-55732816
- GRCh38:
- Chr15:55437070-55440618
| DNAAF4, DNAAF4-CCPG1 | | Ciliary dyskinesia | Pathogenic
(Apr 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55759172-55759176
- GRCh38:
- Chr15:55466974-55466978
| DNAAF4, DNAAF4-CCPG1 | Y197fs | not provided, Primary ciliary dyskinesia 25 | Pathogenic
(Jun 22, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55789935
- GRCh38:
- Chr15:55497737
| DNAAF4, DNAAF4-CCPG1 | M82I | Primary ciliary dyskinesia 25, Dyslexia, susceptibility to, 1, not provided
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55783336-55783342
- GRCh38:
- Chr15:55491138-55491144
| DNAAF4-CCPG1, DNAAF4 | | Dyslexia, susceptibility to, 1, Primary ciliary dyskinesia 25 | Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:55790524
- GRCh38:
- Chr15:55498326
| DNAAF4, DNAAF4-CCPG1 | P2S | Ciliary dyskinesia, Primary ciliary dyskinesia 25, Dyslexia, susceptibility to, 1,
not provided | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55759182
- GRCh38:
- Chr15:55466984
| DNAAF4-CCPG1, DNAAF4 | | Primary ciliary dyskinesia 25, not provided | Pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55759242
- GRCh38:
- Chr15:55467044
| DNAAF4, DNAAF4-CCPG1 | I175fs | Ciliary dyskinesia, Primary ciliary dyskinesia 25, Dyslexia, susceptibility to, 1,
not provided | Pathogenic/Likely pathogenic
(Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55759241-55759242
- GRCh38:
- Chr15:55467043-55467044
| DNAAF4-CCPG1, DNAAF4 | I175fs | DNAAF4-related condition, not provided, Primary ciliary dyskinesia 25
| Pathogenic/Likely pathogenic
(Aug 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55722890
- GRCh38:
- Chr15:55430692
| DNAAF4, DNAAF4-CCPG1 | Q414P | Inborn genetic diseases, not provided, Primary ciliary dyskinesia 25
| Uncertain significance
(Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55759193
- GRCh38:
- Chr15:55466995
| DNAAF4, DNAAF4-CCPG1 | E191G | not specified, not provided, Primary ciliary dyskinesia 25
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55783401
- GRCh38:
- Chr15:55491203
| DNAAF4-CCPG1, DNAAF4 | E109* | not provided | Pathogenic
(Dec 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:55731755
- GRCh38:
- Chr15:55439557
| DNAAF4-CCPG1, DNAAF4 | R270* | Dyslexia, susceptibility to, 1, Primary ciliary dyskinesia 25, not provided
| Pathogenic/Likely pathogenic
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:55722882
- GRCh38:
- Chr15:55430684
| DNAAF4, DNAAF4-CCPG1 | E417* | not specified, Primary ciliary dyskinesia 25, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |