| - GRCh37:
- Chr15:72231227
- GRCh38:
- Chr15:71938886
| MYO9A | Q782K | Bronchiectasis | Uncertain significance
(Feb 22, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:72142434
- GRCh38:
- Chr15:71850093
| MYO9A | R2219H | Bronchiectasis | Uncertain significance
(Feb 22, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr21:40649265
- GRCh38:
- Chr21:39277339
| BRWD1 | L339S | Male infertility, Situs inversus totalis, Bronchiectasis,
Recurrent sinusitis | Uncertain significance
(Oct 19, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr21:40570769
- GRCh38:
- Chr21:39198843
| BRWD1 | Q1858L | Ciliary dyskinesia, primary, 51, Situs inversus totalis, Recurrent sinusitis,
Recurrent otitis media, Bronchiectasis, Male infertility
| Pathogenic/Likely pathogenic
(Jun 27, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr21:40667755
- GRCh38:
- Chr21:39295829
| BRWD1 | H175Y | Ciliary dyskinesia, primary, 51, Situs inversus totalis, Recurrent sinusitis,
Recurrent otitis media, Bronchiectasis, Male infertility
| Conflicting interpretations of pathogenicity
(Jun 27, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr21:40684799
- GRCh38:
- Chr21:39312873
| BRWD1, LOC130066680 | G56S | Male infertility, Situs inversus totalis, Bronchiectasis,
Recurrent sinusitis, Recurrent otitis media | Uncertain significance
(Oct 20, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:47101903
- GRCh38:
- ChrX:47242504
| USP11 | | Absent inner and outer dynein arms, Abnormal ciliary motility, Bronchiectasis,
Dynein arm defect of respiratory motile cilia | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:6458505
- GRCh38:
- Chr12:6349339
| SCNN1A | R476Q, R535Q, R499Q | Bronchiectasis, Combined immunodeficiency, Cognitive impairment,
Chronic diarrhea, Hypothyroidism, Failure to thrive,
not provided | Conflicting interpretations of pathogenicity
(Mar 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:191851647
- GRCh38:
- Chr2:190986921
| STAT1 | T385M, T332M, T352M, T354M, T355M, T365M, T375M, T383M, T387M, T397M | Inherited Immunodeficiency Diseases, Bronchiectasis, Cognitive impairment,
Chronic diarrhea, Failure to thrive, Hypothyroidism,
Combined immunodeficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B,
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, not providedAutoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome,
Chronic oral candidiasis, Severe T-cell immunodeficiency, Delayed speech and language development,
Short stature, Primary hypothyroidism, Hypothyroidism,
Liver abscess, See cases, ...see more | Pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |