| - GRCh37:
- Chr21:43897491
- GRCh38:
- Chr21:42477381
| RSPH1 | Q175*, Q213* | Primary ciliary dyskinesia 24 | Likely pathogenic
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43916339
- GRCh38:
- Chr21:42496229
| LOC130066749, RSPH1 | | not provided, Primary ciliary dyskinesia 24 | Benign
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43897355
- GRCh38:
- Chr21:42477245
| RSPH1 | | not provided, Primary ciliary dyskinesia 24 | Benign
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43897382
- GRCh38:
- Chr21:42477272
| RSPH1 | | Ciliary dyskinesia, not provided, Primary ciliary dyskinesia 24
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43892942
- GRCh38:
- Chr21:42472832
| RSPH1 | D306H, D268H | Ciliary dyskinesia, Primary ciliary dyskinesia 24 | Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43896038
- GRCh38:
- Chr21:42475928
| RSPH1 | Q245*, Q283* | Primary ciliary dyskinesia 24, Ciliary dyskinesia | Conflicting interpretations of pathogenicity
(Jun 3, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43905889
- GRCh38:
- Chr21:42485779
| RSPH1 | A131T, A93T | Primary ciliary dyskinesia 24, Ciliary dyskinesia | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43896001
- GRCh38:
- Chr21:42475891
| RSPH1 | | Ciliary dyskinesia, Primary ciliary dyskinesia 24 | Benign/Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43912946
- GRCh38:
- Chr21:42492836
| RSPH1, LOC126653391 | R28*, R66* | Primary ciliary dyskinesia 24, Ciliary dyskinesia | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43906531
- GRCh38:
- Chr21:42486421
| RSPH1 | Y105*, Y67* | Primary ciliary dyskinesia 24 | Pathogenic
(Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43897401
- GRCh38:
- Chr21:42477291
| RSPH1 | S243G, S205G | Primary ciliary dyskinesia 24, not provided, Ciliary dyskinesia
| Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43892951
- GRCh38:
- Chr21:42472841
| RSPH1 | R303G, R265G | Ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia 24
| Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:43897478
- GRCh38:
- Chr21:42477368
| RSPH1 | L217W, L179W | Primary ciliary dyskinesia 24, not specified, not provided,
Ciliary dyskinesia | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43896143
- GRCh38:
- Chr21:42476033
| RSPH1 | G248R, G210R | Ciliary dyskinesia, not specified, Primary ciliary dyskinesia 24,
not provided | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43905887
- GRCh38:
- Chr21:42485777
| RSPH1 | | Ciliary dyskinesia, not specified, not provided,
Primary ciliary dyskinesia 24 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43897396
- GRCh38:
- Chr21:42477286
| RSPH1 | | not provided, Primary ciliary dyskinesia 24, Ciliary dyskinesia
| Likely pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43902757
- GRCh38:
- Chr21:42482647
| RSPH1 | L188*, L150* | Primary ciliary dyskinesia 24, Ciliary dyskinesia | Pathogenic/Likely pathogenic
(Jul 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43906565
- GRCh38:
- Chr21:42486455
| RSPH1 | W94*, W56* | RSPH1-related condition, Ciliary dyskinesia | Pathogenic/Likely pathogenic
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43906538
- GRCh38:
- Chr21:42486428
| RSPH1 | G103D, G65D | RSPH1-related condition | Uncertain significance
(Sep 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43906573
- GRCh38:
- Chr21:42486463
| RSPH1 | | Ciliary dyskinesia, not provided, Primary ciliary dyskinesia 24
| Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:43905870-43905873
- GRCh38:
- Chr21:42485760-42485763
| RSPH1 | K136fs, K98fs | Primary ciliary dyskinesia 24 | Likely pathogenic
(Sep 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr21:43905917
- GRCh38:
- Chr21:42485807
| RSPH1 | | Primary ciliary dyskinesia 24 | Pathogenic
(Sep 5, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr21:43913159
- GRCh38:
- Chr21:42493049
| LOC126653391, RSPH1 | E29* | Primary ciliary dyskinesia 24, Ciliary dyskinesia | Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |