NM_001372.4(DNAH9):c.3796C>T (p.Gln1266Ter)Pathogenic
not provided|Fetal anomalies with a likely genetic cause
β
β
ββ2026β Residue 1266
NM_001372.4(DNAH9):c.12320_12323del (p.Tyr4107fs)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β
β
ββ2026β Residue 4107
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)Pathogenic
Abnormal cardiovascular system morphology|Ciliary dyskinesia, primary, 40|not provided|Hydrocephalus|DNAH9-related disorder
β
β
ββ2026β Residue 104
NM_001372.4(DNAH9):c.8839C>T (p.Arg2947Ter)Pathogenic
Ciliary dyskinesia, primary, 40|not provided
β
β
ββ2025β Residue 2947
NM_001372.4(DNAH9):c.3354-1delLikely pathogenic
not provided|DNAH9-related disorder
β
β
ββ2025
NM_001372.4(DNAH9):c.11406+1G>TLikely pathogenic
not provided|Ciliary dyskinesia, primary, 40
β
β
ββ2025
NM_001372.4(DNAH9):c.308del (p.Phe103fs)Pathogenic
not provided|Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 40|DNAH9-related disorder
β
β
ββ2025β Residue 103
NM_001372.4(DNAH9):c.6847+1G>ALikely pathogenic
not provided|DNAH9-related disorder|Ciliary dyskinesia, primary, 40
β
β
ββ2025
NM_001372.4(DNAH9):c.6602G>A (p.Trp2201Ter)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β
β
ββ2024β Residue 2201
NM_001372.4(DNAH9):c.1901+1G>ALikely pathogenic
not provided|Ciliary dyskinesia, primary, 40
β
β
ββ2024
NM_001372.4(DNAH9):c.12193C>T (p.Arg4065Ter)Pathogenic
DNAH9-related disorder|not provided
β
β
ββ2024β Residue 4065
NM_001372.4(DNAH9):c.8293del (p.Glu2765fs)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β
β
ββ2024β Residue 2765
NM_001372.4(DNAH9):c.12925C>T (p.Arg4309Ter)Likely pathogenic
Ciliary dyskinesia, primary, 40
β
β
ββ2024β Residue 4309
NM_001372.4(DNAH9):c.11195_11198del (p.Asp3732fs)Pathogenic
not provided
β
β
ββ2024β Residue 3732
NM_001372.4(DNAH9):c.70C>T (p.Arg24Ter)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β
β
ββ2024β Residue 24
NM_001372.4(DNAH9):c.8870_8871del (p.Pro2957fs)Likely pathogenic
Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 40
β
β
ββ2024β Residue 2957
NM_001372.4(DNAH9):c.2984del (p.Arg995fs)Pathogenic
Non-immune hydrops fetalis|not provided|DNAH9-related disorder
β
β
ββ2023β Residue 995
NM_001372.4(DNAH9):c.4030C>T (p.Arg1344Ter)Pathogenic
not provided|Congenital heart disease|Ciliary dyskinesia, primary, 40
β
β
ββ2023β Residue 1344
NM_001372.4(DNAH9):c.1944T>G (p.Tyr648Ter)Likely pathogenic
DNAH9-related disorder|Ciliary dyskinesia, primary, 40
β
β
ββ2023β Residue 648
NM_001372.4(DNAH9):c.2928+1G>ALikely pathogenic
DNAH9-related disorder|not provided
β
β
ββ2023