NM_001277115.2(DNAH11):c.860dup (p.Asn287fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β
β
ββ2026β Residue 287
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia|not provided|Respiratory ciliopathies including non-CF bronchiectasis
β
β
ββ2026β Residue 2243
NM_001277115.2(DNAH11):c.10896+1G>TPathogenic
Primary ciliary dyskinesia|Respiratory ciliopathies including non-CF bronchiectasis
β
β
ββ2026
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7|not provided|DNAH11-related disorder
β
β
ββ2026β Residue 2082
NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β
β
ββ2026β Residue 3597
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β
β
ββ2026β Residue 3422
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia
β
β
ββ2026β Residue 1836
NM_001277115.2(DNAH11):c.6983+1G>APathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia
β
β
ββ2026
NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia|not provided
β
β
ββ2026β Residue 4458
NM_001277115.2(DNAH11):c.12934-1G>TPathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7|DNAH11-related disorder
β
β
ββ2025
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)Likely pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β
β
ββ2025β Residue 1
NM_001277115.2(DNAH11):c.5349_5352del (p.Ile1784fs)Pathogenic
Primary ciliary dyskinesia
β
β
ββ2025β Residue 1784
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7|not provided|Respiratory ciliopathies including non-CF bronchiectasis
β
β
ββ2025β Residue 1445
NM_001277115.2(DNAH11):c.9113_9116del (p.Lys3038fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β
β
ββ2025β Residue 3038
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)Pathogenic
not provided|Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β
β
ββ2025β Residue 1045
NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 7
β
β
ββ2025β Residue 1480
NM_001277115.2(DNAH11):c.10569-2A>GLikely pathogenic
not provided|Primary ciliary dyskinesia
β
β
ββ2025
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 7|DNAH11-related disorder
β
β
ββ2025β Residue 1465
NM_001277115.2(DNAH11):c.13183C>T (p.Arg4395Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β
β
ββ2025β Residue 4395
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia|not provided
β
β
ββ2025β Residue 2900