DNAH11 — 6472 ClinVar variants
All ClinVar germline DNAH11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1138 flagged for review →
335 Pathogenic · 71 Pathogenic/Likely pathogenic · 161 Likely pathogenic · 791 Conflicting · 879 Benign · 241 Benign/Likely benign · 2793 Likely benign · 1201 Uncertain significance
Full DNAH11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1138
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAH11 p.Arg3429His
Likely pathogenic
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Lys2182Asn Likely pathogenic Single submitter
-
DNAH11 p.Ser2181Gly
Likely pathogenic
Single submitter
primary ciliary dyskinesia
Predictors agree, ClinVar conflicts 434
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 434
-
DNAH11 p.Ala1058Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala113Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1229Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1259Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1434Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1451Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1615Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1634Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1742Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1890Gly
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Ala1892Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1892Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2011Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2176Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2283Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2306Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2546Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2622Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2670Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2743Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2767Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2895Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2957Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3214Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3294Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3319Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3467Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala362Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala362Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3775Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3835Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3906Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3975Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala4059Thr
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Ala4426Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala45Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala567Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala666Asp
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Ala67Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala748Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala7Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala845Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala860Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala860Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala897Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala946Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1045Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1159Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1182Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg11Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1233Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1264Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1304Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1320His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1439Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1445Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1446Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1593Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2040Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2040His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2044Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg20Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg20Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2146Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2146His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2189Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2432Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2432Trp
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg2491Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2491His
Conflicting
Single submitter
DNAH11-related disorder
-
DNAH11 p.Arg2535His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2607Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg265Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg265His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2845Gly
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg2900Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3058Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3346Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3364Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3429Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3477Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3656Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3656His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3696Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3845Gln
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg4136His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4297Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4300His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg438Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4405Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4405His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4449His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4482Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg51Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg656Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg685Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg829His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg842Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg857Gln
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg87Trp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg963Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn123Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn1274Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn1527Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn1595Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn1930Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn2101Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn2817Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn3272Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn3558Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn3694Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn4352Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn530Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn563Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn688Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn693Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn701Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn898Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn998Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp1087Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp1141Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp1165Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp1602Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp224Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp2396Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp2425His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp2476Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp2752Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp2757Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp2937Asn
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Asp2941Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp320Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp3627Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp3800His
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Asp407Ala
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Asp680Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp913Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp928Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp971Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Cys1651Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Cys3435Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Cys348Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Cys515Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Cys978Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Gln1014Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Gln1158His
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Gln116Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Gln1300Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Gln225Arg
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 604
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 604
-
DNAH11 p.Ala1291Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ala2851Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Ala3254Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ala3388Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ala3906Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ala46Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ala666Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Arg1627Pro
Uncertain significance
Multiple submitters
DNAH11-related disorder
-
DNAH11 p.Arg2139Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Arg2891Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Arg2891Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Arg3949Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Arg4136Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Arg4297Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Arg4437Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Arg4437His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Arg4449Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Asn1001Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Asn2271Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Asn2285Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Asn432Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Asp1753Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Cys1592Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
- DNAH11 p.Gln1466Arg Uncertain significance Multiple submitters
-
DNAH11 p.Gln1690Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Gln2660His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Gln3521Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Gln3599Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Gln4474Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Gln4474Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Gln639Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Glu1047Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Glu4477Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Glu4500Gly
Uncertain significance
Multiple submitters
DNAH11-related disorder
-
DNAH11 p.Glu889Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Gly2773Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Gly2773Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Gly4011Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.His3047Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.His458Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.His591Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ile1417Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ile166Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Leu1816Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Leu2057Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Leu2155Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Leu2728Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Leu349Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Leu3776Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Lys76Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Met4198Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Pro4421Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ser1831Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 7
-
DNAH11 p.Ser2341Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ser4118Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Thr1462Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Thr2003Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Thr4000Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Thr4444Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Tyr1279Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Tyr3565Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Tyr4329Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Tyr4490Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Val2073Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Val4159Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Val780Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ala1066Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1068Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala107Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1091Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Ala114Val Uncertain significance Single submitter
-
DNAH11 p.Ala1178Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1256Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Ala1269Val Uncertain significance Single submitter
-
DNAH11 p.Ala1281Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Ala1379Thr Uncertain significance Single submitter
-
DNAH11 p.Ala1469Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala153Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1564Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1582Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala161Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1634Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1940Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala1982Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2469Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2469Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2525Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2546Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2672Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala276Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala2957Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Ala2973Ser Uncertain significance Single submitter
-
DNAH11 p.Ala3136Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3321Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3336Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3336Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Ala3360Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3588Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3767Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3830Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3833Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3995Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala401Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala4126Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala4189Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala4205Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala4442Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala4442Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala4448Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Ala50Ser Uncertain significance Single submitter
-
DNAH11 p.Ala57Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala726Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala791Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala818Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1439Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1541Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1557Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1970Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg203Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2044Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg208Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2139Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg2243Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg2287Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
- DNAH11 p.Arg2287Leu Uncertain significance Single submitter
-
DNAH11 p.Arg2990Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3058Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3160Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Arg3346Leu Uncertain significance Single submitter
-
DNAH11 p.Arg3426Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3426Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3429Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg344Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg358Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3706Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3841Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3911Thr
Uncertain significance
Single submitter
DNAH11-related disorder
-
DNAH11 p.Arg3913Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4007Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg410Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4158Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4278Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg438Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4482Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4482Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4495Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg65His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg729Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg842Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg846Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 97
The independent predictors disagree with each other — read with care.
-
DNAH11 p.Asn3640Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Phe2443Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Pro1891Ser
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Thr4404Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Tyr2329Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH11 p.Ala2306Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Ala2314Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ala3598Val
Conflicting
Single submitter
primary ciliary dyskinesia
- DNAH11 p.Ala3712Ser Uncertain significance Single submitter
-
DNAH11 p.Ala4408Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1622Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg1949Gln
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg2243Gln
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg284Ser
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg3392Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Arg3557Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg383Trp
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Arg4405Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn1862Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn2204Ser
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn2285Ser
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn3589Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asn891Asp
Pathogenic
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp1563Gly
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp2577Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp3846Glu
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Asp4402Glu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Gln3599His
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Glu1611Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Glu3261Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Gly3102Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.His2218Arg
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.His3591Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Ile3263Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ile911Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu1189Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu1955Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu278Arg
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu3019Val
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu3127Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu3181Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu4339Pro
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys1110Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys1904Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys1933Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys2278Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys2343Asn
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys2352Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys2459Asn
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys3586Asn
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Lys431Asn
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Met1003Lys
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Met1049Ile
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Met2265Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Met2294Ile
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Met2438Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Met4143Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Met4390Ile
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe1138Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe1515Cys
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe1665Leu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe1976Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe2113Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe2430Leu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe2644Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe2789Leu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe3081Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe377Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe3920Leu
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe3930Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe4008Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe4180Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe4226Leu
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe4266Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe430Leu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe4494Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe484Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe575Leu
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe682Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe709Leu
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe929Leu
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Phe957Leu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Pro4049Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Pro4280Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ser1746Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ser2397Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Ser2865Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Ser3073Asn
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Thr2486Ile
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Thr4411Ile
Benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Tyr1511Cys
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Tyr1629Cys
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Tyr3705Cys
Conflicting
Single submitter
primary ciliary dyskinesia 7
-
DNAH11 p.Val1962Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Val2311Leu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Val2876Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH11 p.Leu1935Phe
Uncertain significance
No assertion criteria
male infertility
All DNAH11 variants
Pathogenic 335
Showing the top 300 by review status; the full set is in the sitemap.
- c.11968-1G>C Multiple submitters primary ciliary dyskinesia 7
- c.4726-1G>A Multiple submitters primary ciliary dyskinesia
- c.5778+1G>A Multiple submitters DNAH11-related disorders
- c.5924+1G>C Multiple submitters primary ciliary dyskinesia
- c.7441-1G>C Multiple submitters primary ciliary dyskinesia 7
- p.Arg1304fs Multiple submitters primary ciliary dyskinesia
- p.Arg1337Ter Multiple submitters primary ciliary dyskinesia
- p.Arg1480Ter Multiple submitters primary ciliary dyskinesia
- p.Arg1541Ter Multiple submitters primary ciliary dyskinesia
- p.Arg1865Ter Multiple submitters primary ciliary dyskinesia
- p.Arg1949Ter Multiple submitters primary ciliary dyskinesia
- p.Arg2044Ter Multiple submitters DNAH11-related disorders
- p.Arg2082Ter Multiple submitters primary ciliary dyskinesia 7
- p.Arg2243Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
- p.Arg2900Ter Multiple submitters DNAH11-related disorders
- p.Arg3346Ter Multiple submitters primary ciliary dyskinesia
- p.Arg4104Ter Multiple submitters primary ciliary dyskinesia
- p.Arg4357Ter Multiple submitters primary ciliary dyskinesia 7
- p.Arg4359Ter Multiple submitters primary ciliary dyskinesia
- p.Arg4395Ter Multiple submitters primary ciliary dyskinesia
- p.Cys978fs Multiple submitters primary ciliary dyskinesia
- p.Gln1075Ter Multiple submitters primary ciliary dyskinesia 7
- p.Gln1518Ter Multiple submitters primary ciliary dyskinesia
- p.Gln2136Ter Multiple submitters primary ciliary dyskinesia
- p.Gln2427Ter Multiple submitters primary ciliary dyskinesia
- p.Gln2667Ter Multiple submitters primary ciliary dyskinesia
- p.Gln2916Ter Multiple submitters primary ciliary dyskinesia
- p.Gln4233Ter Multiple submitters primary ciliary dyskinesia
- p.Glu3146Ter Multiple submitters primary ciliary dyskinesia
- p.Glu4416fs Multiple submitters primary ciliary dyskinesia
- p.Glu975Ter Multiple submitters primary ciliary dyskinesia 7
- p.Leu1199fs Multiple submitters primary ciliary dyskinesia
- p.Leu3194fs Multiple submitters primary ciliary dyskinesia 7
- p.Leu323fs Multiple submitters primary ciliary dyskinesia
- p.Met2693fs Multiple submitters primary ciliary dyskinesia
- p.Ser1465fs Multiple submitters primary ciliary dyskinesia
- p.Tyr1475Ter Multiple submitters primary ciliary dyskinesia
- p.Tyr2620fs Multiple submitters primary ciliary dyskinesia
- p.Tyr4121Ter Multiple submitters DNAH11-related disorders
- p.Val2382fs Multiple submitters primary ciliary dyskinesia
- c.10026+1G>A Single submitter primary ciliary dyskinesia
- c.10026+1G>C Single submitter primary ciliary dyskinesia
- c.10333-1G>A Single submitter primary ciliary dyskinesia
- c.10333-1G>C Single submitter primary ciliary dyskinesia
- c.11203-2A>G Single submitter primary ciliary dyskinesia
- c.11373+1G>A Single submitter primary ciliary dyskinesia
- c.11496+1G>C Single submitter primary ciliary dyskinesia
- c.11496+1G>T Single submitter primary ciliary dyskinesia
- c.12196-2A>G Single submitter primary ciliary dyskinesia
- c.12507+1G>C Single submitter primary ciliary dyskinesia 7
- c.12751-1G>A Single submitter primary ciliary dyskinesia
- c.13303+1G>T Single submitter primary ciliary dyskinesia
- c.1475_1593+946del Single submitter primary ciliary dyskinesia
- c.1593+1G>A Single submitter primary ciliary dyskinesia
- c.2170-1G>A Single submitter DNAH11-related disorder
- c.3853-2202_4096-506del Single submitter primary ciliary dyskinesia 7
- c.4254+5G>C Single submitter primary ciliary dyskinesia
- c.4673_4725+36del Single submitter primary ciliary dyskinesia
- c.4726-2A>G Single submitter primary ciliary dyskinesia
- c.5094+1G>T Single submitter primary ciliary dyskinesia
- c.5622-1G>T Single submitter primary ciliary dyskinesia
- c.5924+1G>A Single submitter primary ciliary dyskinesia
- c.5924+2T>A Single submitter primary ciliary dyskinesia
- c.6834+1G>T Single submitter primary ciliary dyskinesia
- c.7134+1G>A Single submitter primary ciliary dyskinesia 7
- c.7266+1G>A Single submitter primary ciliary dyskinesia
- c.7266+1G>T Single submitter primary ciliary dyskinesia
- c.7907_7914+646del Single submitter primary ciliary dyskinesia
- c.7915-1G>A Single submitter primary ciliary dyskinesia
- c.9336+1G>T Single submitter primary ciliary dyskinesia
- c.9337-12_9398dup Single submitter primary ciliary dyskinesia
- p.Ala1285fs Single submitter primary ciliary dyskinesia
- p.Ala3189fs Single submitter primary ciliary dyskinesia
- p.Ala3358fs Single submitter primary ciliary dyskinesia
- p.Ala4315fs Single submitter primary ciliary dyskinesia
- p.Ala4436Thr Single submitter primary ciliary dyskinesia
- p.Ala4462fs Single submitter primary ciliary dyskinesia
- p.Ala666_Leu667insTer Single submitter primary ciliary dyskinesia
- p.Ala922fs Single submitter primary ciliary dyskinesia
- p.Arg1103fs Single submitter primary ciliary dyskinesia
- p.Arg1949fs Single submitter primary ciliary dyskinesia
- p.Arg2222fs Single submitter primary ciliary dyskinesia
- p.Arg2976Ter Single submitter primary ciliary dyskinesia
- p.Arg3160Ter Single submitter primary ciliary dyskinesia
- p.Arg3350Ter Single submitter primary ciliary dyskinesia
- p.Arg344fs Single submitter primary ciliary dyskinesia
- p.Arg3809Ter Single submitter primary ciliary dyskinesia
- p.Arg4291fs Single submitter primary ciliary dyskinesia
- p.Arg4395fs Single submitter primary ciliary dyskinesia
- p.Arg4469fs Single submitter primary ciliary dyskinesia
- p.Arg550fs Single submitter
- p.Arg892fs Single submitter primary ciliary dyskinesia
- p.Asn1144fs Single submitter primary ciliary dyskinesia
- p.Asn2101fs Single submitter primary ciliary dyskinesia
- p.Asn3726fs Single submitter primary ciliary dyskinesia
- p.Asn4275fs Single submitter primary ciliary dyskinesia
- p.Asn4397fs Single submitter primary ciliary dyskinesia
- p.Asn627delinsTrpSerCysSerSerTer Single submitter primary ciliary dyskinesia
- p.Asn891Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn933fs Single submitter primary ciliary dyskinesia 7
- p.Asp1431fs Single submitter primary ciliary dyskinesia
- p.Asp1873fs Single submitter primary ciliary dyskinesia
- p.Asp2576Gly Single submitter primary ciliary dyskinesia
- p.Asp2803fs Single submitter primary ciliary dyskinesia
- p.Cys1651fs Single submitter primary ciliary dyskinesia
- p.Cys182Ter Single submitter primary ciliary dyskinesia
- p.Cys3704Ter Single submitter primary ciliary dyskinesia
- p.Cys4071fs Single submitter primary ciliary dyskinesia
- p.Cys4071Ter Single submitter primary ciliary dyskinesia
- p.Cys619Ter Single submitter primary ciliary dyskinesia
- p.Gln1000Ter Single submitter primary ciliary dyskinesia
- p.Gln1258Ter Single submitter primary ciliary dyskinesia
- p.Gln1300fs Single submitter primary ciliary dyskinesia
- p.Gln1300Ter Single submitter primary ciliary dyskinesia 7
- p.Gln1318Ter Single submitter primary ciliary dyskinesia
- p.Gln1466fs Single submitter primary ciliary dyskinesia
- p.Gln1466Ter Single submitter primary ciliary dyskinesia
- p.Gln1491Ter Single submitter primary ciliary dyskinesia
- p.Gln1645Ter Single submitter primary ciliary dyskinesia
- p.Gln1648Ter Single submitter primary ciliary dyskinesia 7
- p.Gln1711Ter Single submitter primary ciliary dyskinesia
- p.Gln2245Ter Single submitter primary ciliary dyskinesia
- p.Gln2422Ter Single submitter primary ciliary dyskinesia
- p.Gln2480Ter Single submitter primary ciliary dyskinesia
- p.Gln2669Ter Single submitter primary ciliary dyskinesia 7
- p.Gln3061Ter Single submitter primary ciliary dyskinesia
- p.Gln3089Ter Single submitter primary ciliary dyskinesia
- p.Gln3123fs Single submitter primary ciliary dyskinesia
- p.Gln3171Ter Single submitter primary ciliary dyskinesia
- p.Gln356fs Single submitter primary ciliary dyskinesia
- p.Gln3615fs Single submitter primary ciliary dyskinesia
- p.Gln3730Ter Single submitter primary ciliary dyskinesia
- p.Gln4065Ter Single submitter primary ciliary dyskinesia
- p.Gln4366Ter Single submitter primary ciliary dyskinesia
- p.Gln4383Ter Single submitter primary ciliary dyskinesia
- p.Gln4391Ter Single submitter primary ciliary dyskinesia
- p.Gln4441Ter Single submitter primary ciliary dyskinesia
- p.Gln4470fs Single submitter primary ciliary dyskinesia
- p.Gln4474Ter Single submitter primary ciliary dyskinesia
- p.Gln456fs Single submitter primary ciliary dyskinesia
- p.Gln4fs Single submitter primary ciliary dyskinesia
- p.Gln520Ter Single submitter primary ciliary dyskinesia
- p.Gln616Ter Single submitter primary ciliary dyskinesia
- p.Gln639fs Single submitter primary ciliary dyskinesia
- p.Gln831Ter Single submitter primary ciliary dyskinesia
- p.Gln921fs Single submitter primary ciliary dyskinesia
- p.Gln947Ter Single submitter primary ciliary dyskinesia
- p.Glu1070Ter Single submitter primary ciliary dyskinesia
- p.Glu1074Ter Single submitter primary ciliary dyskinesia
- p.Glu1148Ter Single submitter primary ciliary dyskinesia
- p.Glu1301Ter Single submitter primary ciliary dyskinesia
- p.Glu1585fs Single submitter primary ciliary dyskinesia
- p.Glu1790Ter Single submitter primary ciliary dyskinesia
- p.Glu2089Ter Single submitter primary ciliary dyskinesia
- p.Glu2151fs Single submitter primary ciliary dyskinesia 7
- p.Glu229Ter Single submitter primary ciliary dyskinesia
- p.Glu2741Ter Single submitter primary ciliary dyskinesia
- p.Glu3076fs Single submitter primary ciliary dyskinesia
- p.Glu3146fs Single submitter primary ciliary dyskinesia
- p.Glu3151Ter Single submitter
- p.Glu3175Ter Single submitter primary ciliary dyskinesia 7
- p.Glu326Ter Single submitter primary ciliary dyskinesia
- p.Glu3273fs Single submitter primary ciliary dyskinesia
- p.Glu3385Ter Single submitter primary ciliary dyskinesia
- p.Glu34fs Single submitter primary ciliary dyskinesia
- p.Glu3685Ter Single submitter primary ciliary dyskinesia
- p.Glu3921Ter Single submitter primary ciliary dyskinesia
- p.Glu4030Ter Single submitter primary ciliary dyskinesia
- p.Glu4242Ter Single submitter primary ciliary dyskinesia
- p.Glu4249fs Single submitter primary ciliary dyskinesia
- p.Glu4249Ter Single submitter Fetal anomalies with a likely genetic cause
- p.Glu43Ter Single submitter primary ciliary dyskinesia
- p.Glu4434fs Single submitter primary ciliary dyskinesia
- p.Glu4471fs Single submitter primary ciliary dyskinesia
- p.Glu4477Ter Single submitter primary ciliary dyskinesia
- p.Glu4499Ter Single submitter primary ciliary dyskinesia
- p.Glu44Ter Single submitter primary ciliary dyskinesia
- p.Glu602Ter Single submitter primary ciliary dyskinesia
- p.Glu674fs Single submitter primary ciliary dyskinesia
- p.Glu683Ter Single submitter primary ciliary dyskinesia
- p.Glu854fs Single submitter primary ciliary dyskinesia
- p.Glu889Ter Single submitter primary ciliary dyskinesia
- p.Glu890Ter Single submitter primary ciliary dyskinesia
- p.Glu9Ter Single submitter primary ciliary dyskinesia
- p.Gly2177Asp Single submitter primary ciliary dyskinesia
- p.Gly2503Ter Single submitter primary ciliary dyskinesia
- p.Gly3422fs Single submitter primary ciliary dyskinesia
- p.Gly3511Ter Single submitter primary ciliary dyskinesia
- p.Gly3563fs Single submitter primary ciliary dyskinesia
- p.Gly4425fs Single submitter primary ciliary dyskinesia
- p.Gly4430fs Single submitter primary ciliary dyskinesia
- p.His1411fs Single submitter primary ciliary dyskinesia
- p.His177fs Single submitter primary ciliary dyskinesia
- p.His825fs Single submitter primary ciliary dyskinesia
- p.Ile1722fs Single submitter primary ciliary dyskinesia
- p.Ile2368delinsCysGlyGlyValGlyGlyGlyGlyArgAspSerIleGlyArgTyrThrTer Single submitter primary ciliary dyskinesia
- p.Ile2661fs Single submitter primary ciliary dyskinesia
- p.Ile3725fs Single submitter primary ciliary dyskinesia
- p.Ile3764fs Single submitter primary ciliary dyskinesia
- p.Ile3799fs Single submitter primary ciliary dyskinesia
- p.Leu1007Ter Single submitter primary ciliary dyskinesia
- p.Leu1189_Phe1190insTer Single submitter primary ciliary dyskinesia
- p.Leu1503fs Single submitter primary ciliary dyskinesia
- p.Leu1506fs Single submitter primary ciliary dyskinesia 7
- p.Leu1743fs Single submitter primary ciliary dyskinesia
- p.Leu2358fs Single submitter primary ciliary dyskinesia
- p.Leu2498fs Single submitter primary ciliary dyskinesia
- p.Leu2527_Ser2528insTer Single submitter primary ciliary dyskinesia
- p.Leu2811fs Single submitter primary ciliary dyskinesia
- p.Leu2815Ter Single submitter primary ciliary dyskinesia
- p.Leu3252fs Single submitter primary ciliary dyskinesia
- p.Leu349fs Single submitter primary ciliary dyskinesia
- p.Leu3539Ter Single submitter primary ciliary dyskinesia
- p.Leu3602fs Single submitter primary ciliary dyskinesia
- p.Leu3628fs Single submitter primary ciliary dyskinesia
- p.Leu3633Ter Single submitter primary ciliary dyskinesia
- p.Leu3728fs Single submitter primary ciliary dyskinesia
- p.Leu3733Ter Single submitter primary ciliary dyskinesia
- p.Leu3794Ter Single submitter primary ciliary dyskinesia
- p.Leu3914Ter Single submitter primary ciliary dyskinesia
- p.Leu4156fs Single submitter primary ciliary dyskinesia
- p.Leu441fs Single submitter primary ciliary dyskinesia
- p.Leu4485fs Single submitter primary ciliary dyskinesia
- p.Leu514_Cys515insTer Single submitter primary ciliary dyskinesia
- p.Leu579fs Single submitter primary ciliary dyskinesia
- p.Leu747delinsPhePheTer Single submitter primary ciliary dyskinesia
- p.Leu869fs Single submitter primary ciliary dyskinesia
- p.Lys1250fs Single submitter primary ciliary dyskinesia
- p.Lys197Ter Single submitter primary ciliary dyskinesia
- p.Lys198fs Single submitter primary ciliary dyskinesia
- p.Lys2343Ter Single submitter primary ciliary dyskinesia
- p.Lys2459fs Single submitter primary ciliary dyskinesia
- p.Lys2613fs Single submitter primary ciliary dyskinesia
- p.Lys2794fs Single submitter primary ciliary dyskinesia
- p.Lys2904fs Single submitter primary ciliary dyskinesia
- p.Lys3147fs Single submitter primary ciliary dyskinesia
- p.Lys3152Ter Single submitter primary ciliary dyskinesia 7
- p.Lys3509Ter Single submitter primary ciliary dyskinesia
- p.Lys3797fs Single submitter primary ciliary dyskinesia 7
- p.Lys4078Ter Single submitter primary ciliary dyskinesia
- p.Lys440fs Single submitter primary ciliary dyskinesia
- p.Lys4451delinsProSerArgAsnHisCysTer Single submitter primary ciliary dyskinesia
- p.Lys4463fs Single submitter primary ciliary dyskinesia
- p.Lys4473delinsProSerArgAsnHisCysTer Single submitter primary ciliary dyskinesia
- p.Lys4473fs Single submitter primary ciliary dyskinesia
- p.Lys4484delinsGlnThrAspLeuArgValProCysValTer Single submitter primary ciliary dyskinesia
- p.Lys4484fs Single submitter primary ciliary dyskinesia
- p.Lys4501delinsArgThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer Single submitter primary ciliary dyskinesia
- p.Lys4501fs Single submitter primary ciliary dyskinesia
- p.Lys496Ter Single submitter primary ciliary dyskinesia
- p.Lys774fs Single submitter primary ciliary dyskinesia
- p.Lys774Ter Single submitter primary ciliary dyskinesia
- p.Met1113fs Single submitter primary ciliary dyskinesia
- p.Met1fs Single submitter primary ciliary dyskinesia
- p.Met3245fs Single submitter primary ciliary dyskinesia
- p.Met4433fs Single submitter primary ciliary dyskinesia
- p.Phe1657fs Single submitter primary ciliary dyskinesia
- p.Phe1853fs Single submitter primary ciliary dyskinesia
- p.Phe2214fs Single submitter primary ciliary dyskinesia 7
- p.Phe2662fs Single submitter primary ciliary dyskinesia
- p.Phe2789fs Single submitter primary ciliary dyskinesia
- p.Phe3081fs Single submitter primary ciliary dyskinesia
- p.Pro1208fs Single submitter primary ciliary dyskinesia
- p.Pro2149fs Single submitter primary ciliary dyskinesia
- p.Pro4201fs Single submitter primary ciliary dyskinesia
- p.Pro629fs Single submitter primary ciliary dyskinesia
- p.Ser1882fs Single submitter primary ciliary dyskinesia
- p.Ser1920fs Single submitter primary ciliary dyskinesia
- p.Ser251Ter Single submitter primary ciliary dyskinesia
- p.Ser262Ter Single submitter primary ciliary dyskinesia 7
- p.Ser2714Ter Single submitter primary ciliary dyskinesia
- p.Ser3040fs Single submitter primary ciliary dyskinesia
- p.Ser4498fs Single submitter primary ciliary dyskinesia
- p.Ser745Ter Single submitter primary ciliary dyskinesia
- p.Thr1386fs Single submitter primary ciliary dyskinesia
- p.Thr2051fs Single submitter primary ciliary dyskinesia
- p.Thr3352fs Single submitter primary ciliary dyskinesia
- p.Thr4414fs Single submitter primary ciliary dyskinesia
- p.Thr4493fs Single submitter primary ciliary dyskinesia
- p.Thr495fs Single submitter primary ciliary dyskinesia
- p.Thr992fs Single submitter primary ciliary dyskinesia
- p.Trp1041Ter Single submitter primary ciliary dyskinesia
- p.Trp1127Ter Single submitter primary ciliary dyskinesia
- p.Trp1129fs Single submitter primary ciliary dyskinesia
- p.Trp1330Ter Single submitter primary ciliary dyskinesia
- p.Trp1543Ter Single submitter Respiratory ciliopathies including non-CF bronchiectasis
- p.Trp1733Ter Single submitter primary ciliary dyskinesia
- p.Trp1750Ter Single submitter primary ciliary dyskinesia
- p.Trp1941Ter Single submitter primary ciliary dyskinesia
- p.Trp2326Ter Single submitter primary ciliary dyskinesia
- p.Trp2433Ter Single submitter primary ciliary dyskinesia
- p.Trp250Ter Single submitter primary ciliary dyskinesia
- p.Trp2604Ter Single submitter primary ciliary dyskinesia
- p.Trp2804Ter Single submitter primary ciliary dyskinesia
- p.Trp2968Ter Single submitter primary ciliary dyskinesia
- p.Trp3299Ser Single submitter primary ciliary dyskinesia
- p.Trp3437Ter Single submitter primary ciliary dyskinesia
- p.Trp3492Ter Single submitter primary ciliary dyskinesia
- p.Trp3505fs Single submitter primary ciliary dyskinesia
- p.Trp372Ter Single submitter primary ciliary dyskinesia
Pathogenic/Likely pathogenic 71
- c.10691+1G>T Multiple submitters primary ciliary dyskinesia
- c.10896+1G>T Multiple submitters primary ciliary dyskinesia
- c.11203-1G>C Multiple submitters primary ciliary dyskinesia
- c.11839+1G>A Multiple submitters primary ciliary dyskinesia
- c.12934-1G>T Multiple submitters primary ciliary dyskinesia
- c.1710+1G>C Multiple submitters primary ciliary dyskinesia 7
- c.3426-1G>A Multiple submitters primary ciliary dyskinesia
- c.4095+1G>A Multiple submitters primary ciliary dyskinesia
- c.4818-2A>G Multiple submitters primary ciliary dyskinesia
- c.6547-963G>A Multiple submitters primary ciliary dyskinesia 7
- c.6983+1G>A Multiple submitters primary ciliary dyskinesia
- c.983-1G>T Multiple submitters primary ciliary dyskinesia
- p.Arg1045Ter Multiple submitters primary ciliary dyskinesia
- p.Arg1182Ter Multiple submitters DNAH11-related disorders
- p.Arg1264fs Multiple submitters primary ciliary dyskinesia 7
- p.Arg1445Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
- p.Arg1557Ter Multiple submitters primary ciliary dyskinesia 7
- p.Arg1836Ter Multiple submitters primary ciliary dyskinesia 7
- p.Arg2002Ter Multiple submitters primary ciliary dyskinesia 7
- p.Arg2222Ter Multiple submitters primary ciliary dyskinesia
- p.Arg265fs Multiple submitters primary ciliary dyskinesia
- p.Arg2711fs Multiple submitters DNAH11-related disorders
- p.Arg2842Gln Multiple submitters primary ciliary dyskinesia
- p.Arg2845Ter Multiple submitters DNAH11-related disorders
- p.Arg3236Ter Multiple submitters primary ciliary dyskinesia 7
- p.Arg3845Ter Multiple submitters primary ciliary dyskinesia
- p.Arg644Ter Multiple submitters DNAH11-related disorders
- p.Arg857Ter Multiple submitters primary ciliary dyskinesia
- p.Arg989Ter Multiple submitters primary ciliary dyskinesia
- p.Asn2715fs Multiple submitters primary ciliary dyskinesia
- p.Asn287fs Multiple submitters primary ciliary dyskinesia 22
- p.Cys3408fs Multiple submitters primary ciliary dyskinesia
- p.Gln116Ter Multiple submitters primary ciliary dyskinesia 7
- p.Gln1502Ter Multiple submitters primary ciliary dyskinesia
- p.Gln1523Ter Multiple submitters DNAH11-related disorders
- p.Gln1669Ter Multiple submitters primary ciliary dyskinesia
- p.Gln1740fs Multiple submitters primary ciliary dyskinesia
- p.Gln1740Ter Multiple submitters DNAH11-related disorders
- p.Gln2638His Multiple submitters primary ciliary dyskinesia
- p.Gln2660Ter Multiple submitters primary ciliary dyskinesia
- p.Gln2878Ter Multiple submitters DNAH11-related disorders
- p.Gln2978Ter Multiple submitters primary ciliary dyskinesia
- p.Gln3144Ter Multiple submitters primary ciliary dyskinesia
- p.Gln3442Ter Multiple submitters primary ciliary dyskinesia
- p.Gln3597Ter Multiple submitters primary ciliary dyskinesia
- p.Gln4324Ter Multiple submitters primary ciliary dyskinesia
- p.Glu1425Ter Multiple submitters primary ciliary dyskinesia
- p.Glu1683Ter Multiple submitters primary ciliary dyskinesia 7
- p.Glu3097fs Multiple submitters DNAH11-related disorders
- p.Glu3977Ter Multiple submitters primary ciliary dyskinesia
- p.Gly2503_Lys2504insTer Multiple submitters primary ciliary dyskinesia 7
- p.Gly3422Arg Multiple submitters primary ciliary dyskinesia 7
- p.Ile1784fs Multiple submitters DNAH11-related disorders
- p.Ile914fs Multiple submitters DNAH11-related disorders
- p.Leu545fs Multiple submitters primary ciliary dyskinesia
- p.Lys2609fs Multiple submitters DNAH11-related disorder
- p.Lys3038fs Multiple submitters primary ciliary dyskinesia
- p.Met4390fs Multiple submitters primary ciliary dyskinesia
- p.Pro1987_Ser1988insTer Multiple submitters primary ciliary dyskinesia
- p.Pro4458Leu Multiple submitters primary ciliary dyskinesia 7
- p.Ser1553Ter Multiple submitters primary ciliary dyskinesia
- p.Ser1641Ter Multiple submitters primary ciliary dyskinesia 7
- p.Ser312fs Multiple submitters primary ciliary dyskinesia
- p.Ser416Ter Multiple submitters primary ciliary dyskinesia
- p.Thr1900fs Multiple submitters primary ciliary dyskinesia 7
- p.Trp1348Ter Multiple submitters DNAH11-related disorder
- p.Trp1749Ter Multiple submitters primary ciliary dyskinesia
- p.Trp3014Ter Multiple submitters primary ciliary dyskinesia
- p.Trp904fs Multiple submitters primary ciliary dyskinesia 7
- p.Tyr4476fs Multiple submitters primary ciliary dyskinesia
- p.Val4446fs Multiple submitters primary ciliary dyskinesia
Likely pathogenic 161
- c.10166-1G>C Multiple submitters primary ciliary dyskinesia
- c.10569-2A>G Multiple submitters primary ciliary dyskinesia
- c.3853-2A>G Multiple submitters primary ciliary dyskinesia
- c.4817+1_4817+16del Multiple submitters primary ciliary dyskinesia
- c.4944+1G>A Multiple submitters DNAH11-related disorder
- c.693-2A>G Multiple submitters primary ciliary dyskinesia 7
- c.7267-1G>T Multiple submitters primary ciliary dyskinesia 7
- c.7440+1G>A Multiple submitters primary ciliary dyskinesia
- c.7646-1G>T Multiple submitters primary ciliary dyskinesia 7
- c.8798-2A>G Multiple submitters primary ciliary dyskinesia
- p.Gln1500Ter Multiple submitters DNAH11-related disorders
- p.Leu3722Pro Multiple submitters primary ciliary dyskinesia
- p.Met1Arg Multiple submitters primary ciliary dyskinesia
- p.Met1Val Multiple submitters DNAH11-related disorders
- c.10027-2A>G Single submitter primary ciliary dyskinesia
- c.10165+1G>A Single submitter primary ciliary dyskinesia
- c.10332+1G>A Single submitter primary ciliary dyskinesia
- c.10332+2T>C Single submitter primary ciliary dyskinesia
- c.10569-1G>A Single submitter primary ciliary dyskinesia 7
- c.10691+5G>C Single submitter primary ciliary dyskinesia
- c.10897-2A>T Single submitter primary ciliary dyskinesia
- c.11202+1G>C Single submitter DNAH11-related disorder
- c.11690+1G>A Single submitter primary ciliary dyskinesia
- c.11690+1G>T Single submitter primary ciliary dyskinesia
- c.11690+3_11690+10del Single submitter primary ciliary dyskinesia 7
- c.1194+2T>C Single submitter primary ciliary dyskinesia
- c.11967+5G>A Single submitter primary ciliary dyskinesia
- c.12195+1G>A Single submitter primary ciliary dyskinesia
- c.13162+1G>C Single submitter primary ciliary dyskinesia
- c.1974-1G>C Single submitter primary ciliary dyskinesia 7
- c.2169+2T>C Single submitter primary ciliary dyskinesia 7
- c.2170-1G>C Single submitter primary ciliary dyskinesia
- c.2275-1del Single submitter primary ciliary dyskinesia
- c.2275-2A>G Single submitter primary ciliary dyskinesia
- c.2667+1G>C Single submitter primary ciliary dyskinesia
- c.3000+1G>T Single submitter primary ciliary dyskinesia
- c.3255+1G>T Single submitter primary ciliary dyskinesia
- c.3425+1G>A Single submitter primary ciliary dyskinesia
- c.3425+2T>A Single submitter primary ciliary dyskinesia 7
- c.3426-2A>G Single submitter DNAH11-related disorders
- c.3648+2T>C Single submitter primary ciliary dyskinesia
- c.3766-2A>C Single submitter primary ciliary dyskinesia 7
- c.4012-1G>A Single submitter primary ciliary dyskinesia
- c.4012-1G>C Single submitter primary ciliary dyskinesia 7
- c.4096-2A>G Single submitter primary ciliary dyskinesia
- c.4254+1G>A Single submitter primary ciliary dyskinesia
- c.4254+5G>T Single submitter DNAH11-related disorders
- c.4377+1G>A Single submitter primary ciliary dyskinesia
- c.4378-1G>A Single submitter primary ciliary dyskinesia
- c.4817+1G>A Single submitter primary ciliary dyskinesia
- c.4944+2T>C Single submitter primary ciliary dyskinesia
- c.5094+1G>A Single submitter primary ciliary dyskinesia
- c.5094+2T>G Single submitter primary ciliary dyskinesia
- c.5095-1G>A Single submitter primary ciliary dyskinesia
- c.5328+1G>A Single submitter primary ciliary dyskinesia
- c.5328+1G>T Single submitter primary ciliary dyskinesia 7
- c.5328+3A>G Single submitter primary ciliary dyskinesia
- c.5329-2A>G Single submitter primary ciliary dyskinesia
- c.5554_6181-2105delinsGGTA Single submitter primary ciliary dyskinesia 7
- c.5622-1G>A Single submitter primary ciliary dyskinesia
- c.5779-1G>C Single submitter primary ciliary dyskinesia
- c.6042-1G>T Single submitter primary ciliary dyskinesia
- c.6181-1G>A Single submitter primary ciliary dyskinesia
- c.6274-1G>A Single submitter primary ciliary dyskinesia
- c.6468+2T>G Single submitter primary ciliary dyskinesia
- c.6546+2T>C Single submitter primary ciliary dyskinesia
- c.6684-1G>A Single submitter primary ciliary dyskinesia
- c.6835-1G>A Single submitter primary ciliary dyskinesia
- c.692+2T>C Single submitter primary ciliary dyskinesia
- c.6984-1G>A Single submitter primary ciliary dyskinesia
- c.7135-1G>C Single submitter primary ciliary dyskinesia
- c.7267-2A>C Single submitter primary ciliary dyskinesia
- c.7440+2T>C Single submitter primary ciliary dyskinesia
- c.7645+5G>A Single submitter DNAH11-related disorders
- c.7811+1G>C Single submitter primary ciliary dyskinesia
- c.7904_7914+645del Single submitter primary ciliary dyskinesia
- c.7914+2T>C Single submitter primary ciliary dyskinesia
- c.8511-1G>C Single submitter primary ciliary dyskinesia 7
- c.8673+1G>A Single submitter primary ciliary dyskinesia
- c.8674-1G>A Single submitter primary ciliary dyskinesia
- c.8797+1G>A Single submitter primary ciliary dyskinesia
- c.8798-1G>A Single submitter primary ciliary dyskinesia
- c.8940+1G>A Single submitter primary ciliary dyskinesia
- c.9103-2A>C Single submitter primary ciliary dyskinesia 7
- c.9336+1G>A Single submitter primary ciliary dyskinesia 7
- c.9483+2T>A Single submitter primary ciliary dyskinesia 7
- c.9484-18_9486del Single submitter primary ciliary dyskinesia
- c.9597+1G>A Single submitter primary ciliary dyskinesia
- c.9598-1G>C Single submitter primary ciliary dyskinesia
- c.9742-1G>C Single submitter primary ciliary dyskinesia
- c.982+1G>C Single submitter primary ciliary dyskinesia
- c.9924+1G>A Single submitter primary ciliary dyskinesia
- p.Ala4022Pro Single submitter primary ciliary dyskinesia 7
- p.Ala4508_Gly4509insTrpSerGlySerAlaSerSer Single submitter primary ciliary dyskinesia 7
- p.Ala4511_Ter4517del Single submitter primary ciliary dyskinesia 7
- p.Arg1019fs Single submitter primary ciliary dyskinesia 7
- p.Arg1182fs Single submitter primary ciliary dyskinesia 7
- p.Arg3287Ter Single submitter DNAH11-related disorders
- p.Arg3429His Single submitter primary ciliary dyskinesia ⚠
- p.Arg4486fs Single submitter
- p.Asn41fs Single submitter primary ciliary dyskinesia 7
- p.Asp2893Gly Single submitter
- p.Gln144fs Single submitter primary ciliary dyskinesia 7
- p.Gln2159Ter Single submitter primary ciliary dyskinesia 22
- p.Gln2378His Single submitter DNAH11-related disorders
- p.Gln264Ter Single submitter primary ciliary dyskinesia 7
- p.Gln294Ter Single submitter primary ciliary dyskinesia 7
- p.Gln296Ter Single submitter primary ciliary dyskinesia 7
- p.Gln3318Ter Single submitter primary ciliary dyskinesia 7
- p.Gln3499Ter Single submitter DNAH11-related disorders
- p.Gln947_Met948insTer Single submitter primary ciliary dyskinesia 7
- p.Gln986Ter Single submitter primary ciliary dyskinesia 7
- p.Glu1152Ter Single submitter DNAH11-related disorders
- p.Glu1201Ter Single submitter primary ciliary dyskinesia 7
- p.Glu1243Ter Single submitter primary ciliary dyskinesia 7
- p.Glu165fs Single submitter primary ciliary dyskinesia
- p.Glu3695Ter Single submitter primary ciliary dyskinesia 7
- p.Glu4304Ter Single submitter primary ciliary dyskinesia 7
- p.Glu4434Ter Single submitter primary ciliary dyskinesia
- p.Gly2236Arg Single submitter primary ciliary dyskinesia
- p.Gly2855Arg Single submitter primary ciliary dyskinesia
- p.His1716fs Single submitter primary ciliary dyskinesia
- p.Leu1526fs Single submitter primary ciliary dyskinesia 7
- p.Leu876Ter Single submitter DNAH11-related disorders
- p.Lys2182Asn Single submitter ⚠
- p.Lys3082Ter Single submitter
- p.Lys3390Ter Single submitter DNAH11-related disorders
- p.Lys3996Ter Single submitter primary ciliary dyskinesia 7
- p.Lys4250Ter Single submitter primary ciliary dyskinesia 7
- p.Lys4497fs Single submitter primary ciliary dyskinesia 7
- p.Met1Leu Single submitter primary ciliary dyskinesia
- p.Phe53fs Single submitter primary ciliary dyskinesia 7
- p.Phe72fs Single submitter DNAH11-related disorders
- p.Pro3185fs Single submitter primary ciliary dyskinesia 7
- p.Ser2181Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser2269fs Single submitter primary ciliary dyskinesia 7
- p.Ser4083fs Single submitter ciliary dyskinesia, primary, 37
- p.Ser4377Phe Single submitter primary ciliary dyskinesia 7
- p.Ser710fs Single submitter primary ciliary dyskinesia 7
- p.Thr1505fs Single submitter primary ciliary dyskinesia 7
- p.Thr1880Asn Single submitter primary ciliary dyskinesia
- p.Thr3196_Asn3198dup Single submitter primary ciliary dyskinesia 7
- p.Thr3668fs Single submitter DNAH11-related disorders
- p.Thr4114fs Single submitter
- p.Trp1377Ter Single submitter primary ciliary dyskinesia 7
- p.Trp2255Arg Single submitter primary ciliary dyskinesia
- p.Trp3872Ter Single submitter primary ciliary dyskinesia 7
- p.Trp4505fs Single submitter primary ciliary dyskinesia
- p.Tyr1680Ter Single submitter DNAH11-related disorders
- p.Tyr2605fs Single submitter primary ciliary dyskinesia 7
- p.Tyr523Ter Single submitter DNAH11-related disorders
- p.Tyr874Ter Single submitter
- p.Val127fs Single submitter primary ciliary dyskinesia 7
- p.Val3148fs Single submitter
- p.Val59fs Single submitter primary ciliary dyskinesia 7
- c.13163-1G>A No assertion criteria
- c.7915-2A>G No assertion criteria DNAH11-related disorder
- p.Arg11Ter No assertion criteria DNAH11-related disorder
- p.Gln1085Ter No assertion criteria primary ciliary dyskinesia
- p.Lys3405fs No assertion criteria laterality defects, autosomal dominant
- p.Met4020fs No assertion criteria laterality defects, autosomal dominant
Conflicting classifications of pathogenicity 791
Showing the top 300 by review status; the full set is in the sitemap.
- c.10333-5T>G Single submitter primary ciliary dyskinesia
- c.10569-15C>T Single submitter primary ciliary dyskinesia
- c.10691+2T>C Single submitter primary ciliary dyskinesia 7
- c.10692-7C>T Single submitter primary ciliary dyskinesia
- c.11062-4A>G Single submitter primary ciliary dyskinesia
- c.11691-10T>A Single submitter primary ciliary dyskinesia
- c.11691-20dup Single submitter primary ciliary dyskinesia 7
- c.11840-3C>T Single submitter primary ciliary dyskinesia
- c.12388-4A>G Single submitter primary ciliary dyskinesia
- c.12933+1G>A Single submitter primary ciliary dyskinesia 7
- c.1425+4T>C Single submitter primary ciliary dyskinesia
- c.1426-2A>G Single submitter primary ciliary dyskinesia 7
- c.1711-4A>T Single submitter primary ciliary dyskinesia
- c.1974-3C>T Single submitter primary ciliary dyskinesia
- c.2274+1del Single submitter primary ciliary dyskinesia 7
- c.3649-14C>G Single submitter primary ciliary dyskinesia
- c.3765+1G>A Single submitter primary ciliary dyskinesia
- c.3766-8A>G Single submitter primary ciliary dyskinesia
- c.3853-12T>A Single submitter primary ciliary dyskinesia
- c.3853-5C>G Single submitter primary ciliary dyskinesia
- c.4095+2C>A Single submitter DNAH11-related disorders
- c.4095+2C>T Single submitter primary ciliary dyskinesia 7
- c.4945-5T>G Single submitter primary ciliary dyskinesia
- c.495+1G>T Single submitter primary ciliary dyskinesia
- c.5095-14A>G Single submitter primary ciliary dyskinesia 7
- c.5329-6T>G Single submitter primary ciliary dyskinesia
- c.5622-7C>A Single submitter primary ciliary dyskinesia
- c.6273+9A>G Single submitter primary ciliary dyskinesia
- c.693-14C>G Single submitter primary ciliary dyskinesia 7
- c.7135-14T>G Single submitter primary ciliary dyskinesia
- c.7266+5G>A Single submitter primary ciliary dyskinesia
- c.7441-19A>G Single submitter primary ciliary dyskinesia
- c.7811+4A>T Single submitter primary ciliary dyskinesia
- c.7812-18C>G Single submitter primary ciliary dyskinesia
- c.7812-2A>G Single submitter primary ciliary dyskinesia
- c.8797+12A>C Single submitter primary ciliary dyskinesia
- c.8798-5G>A Single submitter primary ciliary dyskinesia
- c.883-1G>A Single submitter primary ciliary dyskinesia
- c.883-4T>G Single submitter primary ciliary dyskinesia
- c.8940+1G>T Single submitter primary ciliary dyskinesia
- c.9483+14C>G Single submitter primary ciliary dyskinesia
- c.9742-4G>A Single submitter primary ciliary dyskinesia
- c.982+8T>A Single submitter primary ciliary dyskinesia 7
- c.9924+12A>G Single submitter primary ciliary dyskinesia
- c.9925-3C>T Single submitter primary ciliary dyskinesia
- p.Ala1058Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala113Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala1229Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1259Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1434Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1451= Single submitter primary ciliary dyskinesia
- p.Ala1451Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala1615Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1634Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1742Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1890Gly Single submitter primary ciliary dyskinesia 7 ⚠
- p.Ala1892Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1892Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala1940Thr Single submitter primary ciliary dyskinesia
- p.Ala1959Thr Single submitter primary ciliary dyskinesia
- p.Ala2011Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala2039Val Single submitter primary ciliary dyskinesia
- p.Ala2176Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala2207Val Single submitter primary ciliary dyskinesia
- p.Ala2283Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala2306Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala2314Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala2409Thr Single submitter primary ciliary dyskinesia
- p.Ala2409Val Single submitter primary ciliary dyskinesia
- p.Ala2512Glu Single submitter primary ciliary dyskinesia
- p.Ala2546Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala2622Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala2670Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala2743Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala2767Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala2895Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala2957Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala3214Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala3214Thr Single submitter DNAH11-related disorder
- p.Ala3294Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala3319Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala3467Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala3598Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala362Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala362Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala3659= Single submitter primary ciliary dyskinesia
- p.Ala3660Pro Single submitter primary ciliary dyskinesia
- p.Ala3775Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3835Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3895Thr Single submitter primary ciliary dyskinesia
- p.Ala3906Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3975Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala4059Thr Single submitter primary ciliary dyskinesia 7 ⚠
- p.Ala4426Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala4516= Single submitter primary ciliary dyskinesia 7
- p.Ala45Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala567Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala638Asp Single submitter primary ciliary dyskinesia
- p.Ala666Asp Single submitter primary ciliary dyskinesia 7 ⚠
- p.Ala67Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala748Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala7Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala845Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala860Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala860Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala897Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala946Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg1045Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg1159Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg1182Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg11Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg1233Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg1262= Single submitter primary ciliary dyskinesia
- p.Arg1264Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg1304Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg1320His Single submitter primary ciliary dyskinesia ⚠
- p.Arg1375Cys Single submitter primary ciliary dyskinesia
- p.Arg1408Ser Single submitter primary ciliary dyskinesia
- p.Arg1439Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg1445Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg1446Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg1541Gln Single submitter primary ciliary dyskinesia
- p.Arg1593Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg1622Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg1627Cys Single submitter primary ciliary dyskinesia
- p.Arg1715Cys Single submitter primary ciliary dyskinesia
- p.Arg1715His Single submitter primary ciliary dyskinesia 7
- p.Arg1715Pro Single submitter primary ciliary dyskinesia
- p.Arg1834Cys Single submitter primary ciliary dyskinesia
- p.Arg1834His Single submitter primary ciliary dyskinesia 7
- p.Arg1865Gln Single submitter primary ciliary dyskinesia
- p.Arg1949Gln Single submitter primary ciliary dyskinesia 7 ⚠
- p.Arg2002Gln Single submitter primary ciliary dyskinesia
- p.Arg2040Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg2040His Single submitter primary ciliary dyskinesia ⚠
- p.Arg2044Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg2068His Single submitter primary ciliary dyskinesia
- p.Arg2082Pro Single submitter primary ciliary dyskinesia
- p.Arg20Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg20Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg2128Gln Single submitter primary ciliary dyskinesia
- p.Arg2146Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg2146His Single submitter primary ciliary dyskinesia ⚠
- p.Arg2167Gln Single submitter primary ciliary dyskinesia
- p.Arg2167Trp Single submitter primary ciliary dyskinesia
- p.Arg2189Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg2189Ter Single submitter primary ciliary dyskinesia
- p.Arg2222Gly Single submitter primary ciliary dyskinesia 7
- p.Arg2432Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg2432Trp Single submitter primary ciliary dyskinesia 7 ⚠
- p.Arg2491Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg2491His Single submitter DNAH11-related disorder ⚠
- p.Arg2491Pro Single submitter primary ciliary dyskinesia
- p.Arg2535His Single submitter primary ciliary dyskinesia ⚠
- p.Arg2596Gln Single submitter primary ciliary dyskinesia 7
- p.Arg2607Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg265Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg265His Single submitter primary ciliary dyskinesia ⚠
- p.Arg2744Cys Single submitter primary ciliary dyskinesia
- p.Arg2839Cys Single submitter primary ciliary dyskinesia
- p.Arg2839His Single submitter primary ciliary dyskinesia
- p.Arg2845Gly Single submitter primary ciliary dyskinesia 7 ⚠
- p.Arg2900Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg2997Gln Single submitter primary ciliary dyskinesia
- p.Arg3058Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg3098Cys Single submitter primary ciliary dyskinesia
- p.Arg3150Trp Single submitter primary ciliary dyskinesia
- p.Arg3287Gln Single submitter primary ciliary dyskinesia
- p.Arg3346Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg3364Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg3364Leu Single submitter primary ciliary dyskinesia
- p.Arg3364Trp Single submitter primary ciliary dyskinesia
- p.Arg3392= Single submitter primary ciliary dyskinesia
- p.Arg3429Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg3477Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg3491His Single submitter developmental defect during embryogenesis
- p.Arg3557Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg3567Ser Single submitter primary ciliary dyskinesia
- p.Arg3656Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg3656His Single submitter primary ciliary dyskinesia ⚠
- p.Arg3696Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg3702Gln Single submitter primary ciliary dyskinesia
- p.Arg3702Ter Single submitter primary ciliary dyskinesia
- p.Arg3756Cys Single submitter primary ciliary dyskinesia
- p.Arg3756His Single submitter primary ciliary dyskinesia
- p.Arg3809Gln Single submitter primary ciliary dyskinesia
- p.Arg383Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg3841Ter Single submitter primary ciliary dyskinesia
- p.Arg3845Gln Single submitter primary ciliary dyskinesia 7 ⚠
- p.Arg3845Leu Single submitter primary ciliary dyskinesia 7
- p.Arg3888Cys Single submitter primary ciliary dyskinesia 7
- p.Arg4096Ser Single submitter primary ciliary dyskinesia
- p.Arg4136His Single submitter primary ciliary dyskinesia ⚠
- p.Arg4297Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg4300His Single submitter primary ciliary dyskinesia ⚠
- p.Arg4357Gln Single submitter primary ciliary dyskinesia
- p.Arg438Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg4395Gln Single submitter primary ciliary dyskinesia
- p.Arg4405Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg4405His Single submitter primary ciliary dyskinesia ⚠
- p.Arg4449His Single submitter primary ciliary dyskinesia ⚠
- p.Arg4482Lys Single submitter primary ciliary dyskinesia ⚠
- p.Arg470Ser Single submitter primary ciliary dyskinesia
- p.Arg51Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg60= Single submitter primary ciliary dyskinesia
- p.Arg60Pro Single submitter primary ciliary dyskinesia
- p.Arg656Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg685Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg826Gly Single submitter primary ciliary dyskinesia
- p.Arg829His Single submitter primary ciliary dyskinesia ⚠
- p.Arg842Met Single submitter primary ciliary dyskinesia ⚠
- p.Arg857Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg87Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg963Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg989Gln Single submitter primary ciliary dyskinesia
- p.Asn123Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn1274Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn1527Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn1595Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn1930Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn1948Thr Single submitter primary ciliary dyskinesia
- p.Asn2101Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn2715Asp Single submitter primary ciliary dyskinesia
- p.Asn2817Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn2819Ser Single submitter primary ciliary dyskinesia
- p.Asn3101Asp Single submitter primary ciliary dyskinesia
- p.Asn3201Ser Single submitter primary ciliary dyskinesia
- p.Asn3272Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn3347Lys Single submitter primary ciliary dyskinesia
- p.Asn3380Asp Single submitter primary ciliary dyskinesia
- p.Asn3558Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn3694Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn3699Ser Single submitter primary ciliary dyskinesia
- p.Asn3961Ser Single submitter primary ciliary dyskinesia
- p.Asn4055Lys Single submitter primary ciliary dyskinesia
- p.Asn4352Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn530Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn563Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn634Ile Single submitter primary ciliary dyskinesia
- p.Asn688Lys Single submitter primary ciliary dyskinesia ⚠
- p.Asn693Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn701Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn719Ser Single submitter primary ciliary dyskinesia
- p.Asn833Thr Single submitter primary ciliary dyskinesia
- p.Asn898Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn998Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asp1087Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp1141Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp1165Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp1255= Single submitter primary ciliary dyskinesia 7
- p.Asp1378Asn Single submitter primary ciliary dyskinesia
- p.Asp1407Gly Single submitter primary ciliary dyskinesia
- p.Asp1489Gly Single submitter primary ciliary dyskinesia
- p.Asp1602Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp1658Asn Single submitter primary ciliary dyskinesia
- p.Asp1753Gly Single submitter primary ciliary dyskinesia
- p.Asp2064Asn Single submitter primary ciliary dyskinesia
- p.Asp2099Asn Single submitter primary ciliary dyskinesia
- p.Asp2202Asn Single submitter primary ciliary dyskinesia
- p.Asp224Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp2396Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp2425His Single submitter primary ciliary dyskinesia ⚠
- p.Asp2451Asn Single submitter primary ciliary dyskinesia
- p.Asp2476Gly Single submitter primary ciliary dyskinesia ⚠
- p.Asp2577Asn Single submitter primary ciliary dyskinesia
- p.Asp2652Asn Single submitter primary ciliary dyskinesia
- p.Asp2752Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp2757Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp2928Asn Single submitter primary ciliary dyskinesia
- p.Asp2937Asn Single submitter primary ciliary dyskinesia 7 ⚠
- p.Asp2941Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp320Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp3249Asn Single submitter primary ciliary dyskinesia
- p.Asp3312Val Single submitter primary ciliary dyskinesia
- p.Asp3627Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp3651= Single submitter primary ciliary dyskinesia 7
- p.Asp3752Asn Single submitter primary ciliary dyskinesia
- p.Asp3800His Single submitter primary ciliary dyskinesia 7 ⚠
- p.Asp407Ala Single submitter primary ciliary dyskinesia 7 ⚠
- p.Asp548Gly Single submitter primary ciliary dyskinesia
- p.Asp548Val Single submitter primary ciliary dyskinesia
- p.Asp56Glu Single submitter primary ciliary dyskinesia
- p.Asp680Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp913Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp928Val Single submitter primary ciliary dyskinesia ⚠
- p.Asp971Gly Single submitter primary ciliary dyskinesia ⚠
- p.Cys1251fs Single submitter primary ciliary dyskinesia 7
- p.Cys1251Gly Single submitter primary ciliary dyskinesia
- p.Cys1651Arg Single submitter primary ciliary dyskinesia ⚠
- p.Cys3435Ser Single submitter primary ciliary dyskinesia ⚠
- p.Cys348Arg Single submitter primary ciliary dyskinesia ⚠
- p.Cys4085Trp Single submitter primary ciliary dyskinesia
- p.Cys4090Phe Single submitter primary ciliary dyskinesia
- p.Cys515Ser Single submitter primary ciliary dyskinesia ⚠
- p.Cys556Tyr Single submitter primary ciliary dyskinesia
- p.Cys978Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Gln1014Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln1158His Single submitter primary ciliary dyskinesia ⚠
- p.Gln116Glu Single submitter primary ciliary dyskinesia ⚠
Benign 879
Showing the top 300 by review status; the full set is in the sitemap.
- c.11691-20_11691-19insC Multiple submitters primary ciliary dyskinesia
- c.12196-155C>T Multiple submitters
- c.13162+23C>A Multiple submitters primary ciliary dyskinesia 7
- c.4377+20G>A Multiple submitters primary ciliary dyskinesia 7
- c.4945-34A>G Multiple submitters primary ciliary dyskinesia 7
- c.6274-13T>G Multiple submitters primary ciliary dyskinesia
- c.6469-17A>G Multiple submitters primary ciliary dyskinesia 7
- c.8155-19C>T Multiple submitters primary ciliary dyskinesia
- c.8797+20T>G Multiple submitters primary ciliary dyskinesia
- c.8797+23T>C Multiple submitters primary ciliary dyskinesia 7
- c.9102+20G>A Multiple submitters primary ciliary dyskinesia
- c.*16C>T Multiple submitters primary ciliary dyskinesia
- p.Ala1757Val Multiple submitters primary ciliary dyskinesia
- p.Ala3214= Multiple submitters primary ciliary dyskinesia
- p.Ala3659Val Multiple submitters primary ciliary dyskinesia
- p.Cys2756Arg Multiple submitters primary ciliary dyskinesia
- p.Glu34Leu Multiple submitters primary ciliary dyskinesia
- p.His2592= Multiple submitters primary ciliary dyskinesia
- p.His2788Asp Multiple submitters primary ciliary dyskinesia
- p.Leu1485= Multiple submitters primary ciliary dyskinesia
- p.Leu1787= Multiple submitters primary ciliary dyskinesia
- p.Lys466Thr Multiple submitters primary ciliary dyskinesia
- p.Met512Lys Multiple submitters primary ciliary dyskinesia
- p.Pro2444= Multiple submitters primary ciliary dyskinesia
- p.Pro3801Arg Multiple submitters primary ciliary dyskinesia
- p.Thr1804Ala Multiple submitters primary ciliary dyskinesia
- p.Thr3006= Multiple submitters primary ciliary dyskinesia
- p.Val1477Ala Multiple submitters primary ciliary dyskinesia
- c.10027-195C>T Single submitter
- c.10027-259G>T Single submitter
- c.10027-297G>T Single submitter
- c.10027-324A>G Single submitter
- c.10165+12del Single submitter primary ciliary dyskinesia
- c.10165+187T>A Single submitter
- c.10165+325T>C Single submitter
- c.10165+54G>A Single submitter
- c.10165+84A>G Single submitter
- c.10165+87T>A Single submitter
- c.10166-44A>G Single submitter
- c.10333-162A>C Single submitter
- c.10333-328T>C Single submitter
- c.10568+161C>T Single submitter
- c.10568+70G>A Single submitter
- c.10569-59A>T Single submitter
- c.10691+223G>A Single submitter
- c.10691+258G>A Single submitter
- c.10691+261G>T Single submitter
- c.10691+86A>G Single submitter
- c.10896+195C>T Single submitter
- c.10896+225C>G Single submitter
- c.10896+58A>G Single submitter
- c.10897-306T>G Single submitter
- c.10897-44dup Single submitter
- c.10897-45_10897-44dup Single submitter
- c.10897-6del Single submitter primary ciliary dyskinesia
- c.11061+167G>A Single submitter
- c.11061+186C>T Single submitter
- c.11061+246T>C Single submitter
- c.11061+72G>A Single submitter
- c.11062-222G>A Single submitter
- c.11202+46A>C Single submitter
- c.11202+60C>A Single submitter
- c.11373+113dup Single submitter
- c.11374-325T>A Single submitter
- c.11496+82A>G Single submitter
- c.11497-111T>C Single submitter
- c.11497-135del Single submitter
- c.11497-135dup Single submitter
- c.11497-136_11497-135dup Single submitter
- c.11497-257C>A Single submitter
- c.11691-102G>C Single submitter
- c.11691-50T>C Single submitter
- c.11839+113del Single submitter
- c.11839+113dup Single submitter
- c.11839+27C>T Single submitter
- c.11839+71T>C Single submitter
- c.11840-203T>G Single submitter
- c.11840-37T>C Single submitter
- c.1195-267A>G Single submitter
- c.1195-62C>T Single submitter
- c.1195-64G>A Single submitter
- c.11967+322A>G Single submitter
- c.11967+81C>G Single submitter
- c.11968-170dup Single submitter
- c.12196-274G>A Single submitter
- c.12196-6del Single submitter primary ciliary dyskinesia
- c.12196-6dup Single submitter primary ciliary dyskinesia
- c.12387+240dup Single submitter
- c.12387+45G>A Single submitter
- c.12388-235dup Single submitter
- c.12388-42C>G Single submitter
- c.12507+104G>C Single submitter
- c.12507+211C>G Single submitter
- c.12750+263G>A Single submitter
- c.12750+32T>C Single submitter
- c.12751-296C>G Single submitter
- c.12934-12dup Single submitter primary ciliary dyskinesia
- c.13049+12dup Single submitter primary ciliary dyskinesia
- c.13162+83G>A Single submitter
- c.13163-113C>T Single submitter
- c.13163-216A>G Single submitter
- c.13163-254T>G Single submitter
- c.13163-256T>A Single submitter
- c.13303+12dup Single submitter primary ciliary dyskinesia
- c.13304-145C>T Single submitter
- c.13304-160T>C Single submitter
- c.13304-183C>T Single submitter
- c.13304-264_13304-260dup Single submitter
- c.13304-63_13304-60del Single submitter
- c.13304-8dup Single submitter primary ciliary dyskinesia
- c.1426-112_1426-103del Single submitter
- c.1426-237G>C Single submitter
- c.1426-25G>C Single submitter
- c.1426-7dup Single submitter primary ciliary dyskinesia
- c.1593+215T>G Single submitter
- c.1593+28G>T Single submitter
- c.1593+35A>G Single submitter
- c.1594-137T>A Single submitter
- c.1710+326A>G Single submitter
- c.1848+90A>G Single submitter
- c.1974-141C>G Single submitter
- c.2170-179_2170-175del Single submitter
- c.2170-253A>G Single submitter
- c.2274+24del Single submitter primary ciliary dyskinesia
- c.2275-15del Single submitter primary ciliary dyskinesia
- c.3000+64A>G Single submitter
- c.3000+81T>C Single submitter
- c.3001-213_3001-211del Single submitter
- c.3255+22T>C Single submitter
- c.351+115T>C Single submitter
- c.351+305C>A Single submitter
- c.351+68T>G Single submitter
- c.352-192A>G Single submitter
- c.352-242C>T Single submitter
- c.352-320del Single submitter
- c.3648+33A>G Single submitter
- c.3649-249T>C Single submitter
- c.3649-264C>A Single submitter
- c.3766-12del Single submitter
- c.3766-12dup Single submitter
- c.3766-13_3766-12dup Single submitter
- c.3766-14_3766-12del Single submitter
- c.3766-15_3766-12del Single submitter
- c.3852+268G>A Single submitter
- c.3853-130C>T Single submitter
- c.3853-237G>A Single submitter
- c.4011+16del Single submitter primary ciliary dyskinesia
- c.4011+291A>G Single submitter
- c.4011+80A>G Single submitter
- c.4012-11del Single submitter primary ciliary dyskinesia
- c.4012-160T>C Single submitter
- c.4012-4del Single submitter primary ciliary dyskinesia
- c.4096-107C>G Single submitter
- c.4096-126A>G Single submitter
- c.4096-166G>A Single submitter
- c.4096-254C>A Single submitter
- c.4096-52A>G Single submitter
- c.4254+177T>G Single submitter
- c.4254+311T>G Single submitter
- c.4255-181C>T Single submitter
- c.4255-328A>T Single submitter
- c.4377+124C>T Single submitter
- c.4377+254A>G Single submitter
- c.4377+34G>T Single submitter
- c.4500+115A>G Single submitter
- c.4500+235C>A Single submitter
- c.4501-239_4501-237del Single submitter
- c.4501-265G>C Single submitter
- c.4501-65T>C Single submitter
- c.4726-164A>T Single submitter
- c.4726-251G>T Single submitter
- c.4726-271A>T Single submitter
- c.4817+147C>T Single submitter
- c.4817+239T>G Single submitter
- c.4818-247GT[18] Single submitter
- c.4818-247GT[19] Single submitter
- c.4818-247GT[20] Single submitter
- c.4944+14del Single submitter primary ciliary dyskinesia
- c.4944+14dup Single submitter primary ciliary dyskinesia
- c.4944+281dup Single submitter
- c.4944+282A>G Single submitter
- c.495+324T>C Single submitter
- c.495+53A>G Single submitter
- c.496-107_496-105dup Single submitter
- c.496-166T>C Single submitter
- c.5094+50G>A Single submitter
- c.5095-187G>C Single submitter
- c.5095-275C>G Single submitter
- c.5095-316C>T Single submitter
- c.5095-338G>T Single submitter
- c.5095-81G>A Single submitter
- c.5328+131A>C Single submitter
- c.5329-190C>T Single submitter
- c.5329-230A>G Single submitter
- c.5329-282G>C Single submitter
- c.5329-302T>A Single submitter
- c.5329-311T>G Single submitter
- c.5329-34C>G Single submitter
- c.5460+305G>A Single submitter
- c.5461-270C>T Single submitter
- c.5461-273dup Single submitter
- c.5621+117T>C Single submitter
- c.5622-298A>G Single submitter
- c.5924+126C>T Single submitter
- c.5924+41A>G Single submitter
- c.5925-160A>G Single submitter
- c.5925-174A>G Single submitter
- c.5925-179T>G Single submitter
- c.5925-275C>G Single submitter
- c.6041+148T>G Single submitter
- c.6041+296dup Single submitter
- c.6041+297_6041+304del Single submitter
- c.6041+297_6041+305del Single submitter
- c.6041+297_6041+306del Single submitter
- c.6041+76G>A Single submitter
- c.6042-199T>C Single submitter
- c.6042-47T>C Single submitter
- c.6180+142G>C Single submitter
- c.6180+242T>G Single submitter
- c.6181-177C>T Single submitter
- c.6181-194dup Single submitter
- c.6273+64A>G Single submitter
- c.6274-264A>G Single submitter
- c.6274-5del Single submitter primary ciliary dyskinesia
- c.6468+138A>G Single submitter
- c.6468+147G>T Single submitter
- c.6468+192G>A Single submitter
- c.6468+6dup Single submitter primary ciliary dyskinesia
- c.6469-123A>G Single submitter
- c.6546+192G>C Single submitter
- c.6547-217A>C Single submitter
- c.6547-301A>T Single submitter
- c.6683+177A>G Single submitter
- c.6683+213C>G Single submitter
- c.6683+231C>T Single submitter
- c.6683+76A>C Single submitter
- c.6834+130T>A Single submitter
- c.6834+314A>G Single submitter
- c.692+137G>C Single submitter
- c.6984-106T>C Single submitter
- c.7134+147G>A Single submitter
- c.7134+186A>C Single submitter
- c.7134+263_7134+264insTTT Single submitter
- c.7134+263_7134+264insTTTT Single submitter
- c.7134+264A>T Single submitter
- c.7134+275G>A Single submitter
- c.7134+35T>C Single submitter
- c.7134+73A>T Single submitter
- c.7134+93G>A Single submitter
- c.7266+80T>C Single submitter
- c.7267-12dup Single submitter primary ciliary dyskinesia
- c.7267-26A>G Single submitter
- c.7267-317G>T Single submitter
- c.7267-34A>G Single submitter
- c.7267-35G>C Single submitter
- c.7440+225G>A Single submitter
- c.7440+307T>C Single submitter
- c.7440+34T>C Single submitter
- c.7440+63C>A Single submitter
- c.7441-105A>C Single submitter
- c.7441-182C>G Single submitter
- c.7441-195G>A Single submitter
- c.7441-291C>T Single submitter
- c.7441-48A>G Single submitter
- c.7646-119C>T Single submitter
- c.7646-122G>A Single submitter
- c.7646-144C>T Single submitter
- c.7646-146T>G Single submitter
- c.7646-56C>G Single submitter
- c.7811+194G>A Single submitter
- c.7811+262C>G Single submitter
- c.7811+278C>T Single submitter
- c.7811+45T>G Single submitter
- c.7812-105G>A Single submitter
- c.7812-223C>A Single submitter
- c.7812-302C>A Single submitter
- c.7812-344G>T Single submitter
- c.7812-85C>T Single submitter
- c.7914+215A>G Single submitter
- c.7914+40T>C Single submitter
- c.7915-134A>G Single submitter
- c.7915-212A>G Single submitter
- c.7915-341T>C Single submitter
- c.7915-9dup Single submitter primary ciliary dyskinesia
- c.8154+207G>A Single submitter
- c.8154+23T>C Single submitter
- c.8317-56A>C Single submitter
- c.8511-280A>G Single submitter
- c.8673+13del Single submitter primary ciliary dyskinesia
- c.8673+13dup Single submitter primary ciliary dyskinesia
- c.8673+247T>C Single submitter
- c.8674-270A>G Single submitter
- c.8940+186A>G Single submitter
- c.8941-13del Single submitter primary ciliary dyskinesia
- c.8941-13dup Single submitter primary ciliary dyskinesia
- c.8941-194G>A Single submitter
- c.8941-202TG[3] Single submitter
- c.9102+137G>A Single submitter
- c.9102+181A>G Single submitter
- c.9102+212C>G Single submitter
Benign/Likely benign 241
- c.10027-10T>C Multiple submitters primary ciliary dyskinesia
- c.10165+7C>T Multiple submitters primary ciliary dyskinesia
- c.11202+13G>A Multiple submitters primary ciliary dyskinesia
- c.11202+7C>A Multiple submitters primary ciliary dyskinesia
- c.11373+17C>T Multiple submitters primary ciliary dyskinesia
- c.11691-19A>G Multiple submitters primary ciliary dyskinesia
- c.11839+12G>C Multiple submitters primary ciliary dyskinesia
- c.11840-20C>T Multiple submitters primary ciliary dyskinesia
- c.11967+14T>G Multiple submitters primary ciliary dyskinesia
- c.12196-12C>G Multiple submitters primary ciliary dyskinesia
- c.12387+20T>A Multiple submitters primary ciliary dyskinesia
- c.12508-12T>C Multiple submitters primary ciliary dyskinesia
- c.13050-11C>A Multiple submitters primary ciliary dyskinesia
- c.13050-12C>T Multiple submitters primary ciliary dyskinesia
- c.13050-15C>T Multiple submitters primary ciliary dyskinesia
- c.13050-20T>A Multiple submitters primary ciliary dyskinesia
- c.13163-10_13163-7dup Multiple submitters primary ciliary dyskinesia
- c.13163-19T>A Multiple submitters primary ciliary dyskinesia
- c.1426-9T>C Multiple submitters primary ciliary dyskinesia
- c.2170-12G>A Multiple submitters primary ciliary dyskinesia
- c.2274+24dup Multiple submitters primary ciliary dyskinesia
- c.2275-15G>T Multiple submitters primary ciliary dyskinesia
- c.3001-7C>T Multiple submitters primary ciliary dyskinesia
- c.3256-10C>G Multiple submitters primary ciliary dyskinesia
- c.3425+18T>G Multiple submitters primary ciliary dyskinesia
- c.352-9T>C Multiple submitters primary ciliary dyskinesia
- c.3853-16T>A Multiple submitters primary ciliary dyskinesia
- c.3853-16T>C Multiple submitters primary ciliary dyskinesia
- c.4255-12del Multiple submitters primary ciliary dyskinesia
- c.4255-7C>G Multiple submitters primary ciliary dyskinesia
- c.4377+15A>G Multiple submitters primary ciliary dyskinesia
- c.4378-17_4378-16insATTTA Multiple submitters primary ciliary dyskinesia
- c.4501-7A>T Multiple submitters primary ciliary dyskinesia
- c.4726-15T>C Multiple submitters primary ciliary dyskinesia
- c.4944+6del Multiple submitters primary ciliary dyskinesia
- c.5621+11A>T Multiple submitters primary ciliary dyskinesia
- c.5924+19A>G Multiple submitters primary ciliary dyskinesia
- c.6041+18T>C Multiple submitters primary ciliary dyskinesia 7
- c.6181-12T>C Multiple submitters primary ciliary dyskinesia 7
- c.6468+14T>C Multiple submitters primary ciliary dyskinesia
- c.6547-5C>G Multiple submitters primary ciliary dyskinesia
- c.6683+13C>G Multiple submitters primary ciliary dyskinesia 7
- c.6835-19A>G Multiple submitters primary ciliary dyskinesia 7
- c.693-9T>C Multiple submitters primary ciliary dyskinesia 7
- c.7134+17G>A Multiple submitters primary ciliary dyskinesia
- c.7267-5C>G Multiple submitters primary ciliary dyskinesia
- c.8155-8C>T Multiple submitters primary ciliary dyskinesia
- c.8317-16C>G Multiple submitters primary ciliary dyskinesia
- c.882+7A>G Multiple submitters primary ciliary dyskinesia
- c.883-13del Multiple submitters primary ciliary dyskinesia
- c.9102+21_9102+22dup Multiple submitters primary ciliary dyskinesia
- c.9102+8G>A Multiple submitters primary ciliary dyskinesia
- c.9337-9T>C Multiple submitters primary ciliary dyskinesia
- c.9598-16G>A Multiple submitters primary ciliary dyskinesia
- c.*189C>G Multiple submitters
- c.*88A>G Multiple submitters primary ciliary dyskinesia
- p.Ala1242= Multiple submitters primary ciliary dyskinesia
- p.Ala1654Gly Multiple submitters primary ciliary dyskinesia
- p.Ala1676= Multiple submitters primary ciliary dyskinesia
- p.Ala16Val Multiple submitters primary ciliary dyskinesia
- p.Ala2039= Multiple submitters primary ciliary dyskinesia
- p.Ala324Val Multiple submitters primary ciliary dyskinesia
- p.Ala3467Thr Multiple submitters primary ciliary dyskinesia 7
- p.Ala3483= Multiple submitters primary ciliary dyskinesia
- p.Ala3484Thr Multiple submitters primary ciliary dyskinesia
- p.Ala3775= Multiple submitters primary ciliary dyskinesia
- p.Ala3995Pro Multiple submitters primary ciliary dyskinesia
- p.Ala4058= Multiple submitters primary ciliary dyskinesia
- p.Ala4315Thr Multiple submitters primary ciliary dyskinesia
- p.Ala4516Val Multiple submitters primary ciliary dyskinesia
- p.Ala568Thr Multiple submitters primary ciliary dyskinesia
- p.Ala859Val Multiple submitters primary ciliary dyskinesia
- p.Arg1375His Multiple submitters primary ciliary dyskinesia
- p.Arg1436Gln Multiple submitters primary ciliary dyskinesia
- p.Arg1436Trp Multiple submitters primary ciliary dyskinesia
- p.Arg2139Lys Multiple submitters primary ciliary dyskinesia
- p.Arg2990His Multiple submitters primary ciliary dyskinesia
- p.Arg3150Gln Multiple submitters primary ciliary dyskinesia
- p.Arg3580= Multiple submitters primary ciliary dyskinesia
- p.Arg3580His Multiple submitters primary ciliary dyskinesia
- p.Arg358Cys Multiple submitters primary ciliary dyskinesia
- p.Arg4096= Multiple submitters primary ciliary dyskinesia
- p.Arg4359Gln Multiple submitters primary ciliary dyskinesia
- p.Arg685His Multiple submitters primary ciliary dyskinesia
- p.Asn1025Ser Multiple submitters primary ciliary dyskinesia
- p.Asn235= Multiple submitters primary ciliary dyskinesia
- p.Asn2511= Multiple submitters primary ciliary dyskinesia
- p.Asn2634Ser Multiple submitters primary ciliary dyskinesia
- p.Asn3370= Multiple submitters primary ciliary dyskinesia
- p.Asn3737= Multiple submitters primary ciliary dyskinesia
- p.Asn886Ser Multiple submitters primary ciliary dyskinesia
- p.Asp141Tyr Multiple submitters primary ciliary dyskinesia
- p.Asp1635Gly Multiple submitters primary ciliary dyskinesia
- p.Asp3156= Multiple submitters primary ciliary dyskinesia
- p.Asp3250= Multiple submitters primary ciliary dyskinesia
- p.Asp4015= Multiple submitters primary ciliary dyskinesia
- p.Asp4187Glu Multiple submitters primary ciliary dyskinesia
- p.Asp4241= Multiple submitters primary ciliary dyskinesia
- p.Gln1210= Multiple submitters primary ciliary dyskinesia
- p.Gln1401Arg Multiple submitters primary ciliary dyskinesia
- p.Gln1518= Multiple submitters primary ciliary dyskinesia
- p.Gln1711Arg Multiple submitters primary ciliary dyskinesia
- p.Gln1825= Multiple submitters primary ciliary dyskinesia
- p.Gln1961= Multiple submitters primary ciliary dyskinesia
- p.Gln3166Arg Multiple submitters primary ciliary dyskinesia
- p.Gln639Arg Multiple submitters primary ciliary dyskinesia
- p.Gln945= Multiple submitters primary ciliary dyskinesia
- p.Glu1015Asp Multiple submitters primary ciliary dyskinesia
- p.Glu1035= Multiple submitters primary ciliary dyskinesia 7
- p.Glu286= Multiple submitters primary ciliary dyskinesia
- p.Glu3265Asp Multiple submitters primary ciliary dyskinesia
- p.Glu3471Lys Multiple submitters primary ciliary dyskinesia
- p.Glu34Ter Multiple submitters primary ciliary dyskinesia
- p.Glu34Val Multiple submitters primary ciliary dyskinesia
- p.Glu351= Multiple submitters primary ciliary dyskinesia
- p.Glu3629= Multiple submitters primary ciliary dyskinesia
- p.Glu3745Lys Multiple submitters primary ciliary dyskinesia
- p.Glu4499Lys Multiple submitters primary ciliary dyskinesia 7
- p.Glu794Lys Multiple submitters primary ciliary dyskinesia 7
- p.Gly1382= Multiple submitters primary ciliary dyskinesia
- p.Gly2730Cys Multiple submitters primary ciliary dyskinesia
- p.Gly3102= Multiple submitters primary ciliary dyskinesia
- p.Gly63Ala Multiple submitters primary ciliary dyskinesia
- p.His1478= Multiple submitters primary ciliary dyskinesia
- p.His2826= Multiple submitters primary ciliary dyskinesia
- p.His3766= Multiple submitters primary ciliary dyskinesia
- p.His3816Tyr Multiple submitters primary ciliary dyskinesia
- p.His4088= Multiple submitters primary ciliary dyskinesia
- p.His855Tyr Multiple submitters primary ciliary dyskinesia
- p.Ile1417Thr Multiple submitters primary ciliary dyskinesia
- p.Ile1483= Multiple submitters primary ciliary dyskinesia
- p.Ile1533Ser Multiple submitters primary ciliary dyskinesia
- p.Ile1623Thr Multiple submitters primary ciliary dyskinesia
- p.Ile1718Val Multiple submitters primary ciliary dyskinesia
- p.Ile192Met Multiple submitters primary ciliary dyskinesia
- p.Ile2023Val Multiple submitters primary ciliary dyskinesia
- p.Ile214Val Multiple submitters primary ciliary dyskinesia
- p.Ile258Val Multiple submitters primary ciliary dyskinesia
- p.Ile3033Thr Multiple submitters primary ciliary dyskinesia
- p.Ile3033Val Multiple submitters primary ciliary dyskinesia
- p.Ile3744= Multiple submitters primary ciliary dyskinesia
- p.Ile3792Val Multiple submitters primary ciliary dyskinesia
- p.Ile4115Ser Multiple submitters primary ciliary dyskinesia
- p.Ile4215Thr Multiple submitters primary ciliary dyskinesia
- p.Ile4301Val Multiple submitters primary ciliary dyskinesia
- p.Leu1200= Multiple submitters primary ciliary dyskinesia
- p.Leu1486= Multiple submitters primary ciliary dyskinesia
- p.Leu1830= Multiple submitters primary ciliary dyskinesia
- p.Leu1935= Multiple submitters primary ciliary dyskinesia
- p.Leu2242= Multiple submitters primary ciliary dyskinesia
- p.Leu2282= Multiple submitters primary ciliary dyskinesia
- p.Leu2380= Multiple submitters primary ciliary dyskinesia
- p.Leu2524= Multiple submitters primary ciliary dyskinesia
- p.Leu2524Met Multiple submitters primary ciliary dyskinesia
- p.Leu2527= Multiple submitters primary ciliary dyskinesia
- p.Leu2764= Multiple submitters primary ciliary dyskinesia
- p.Leu3187= Multiple submitters primary ciliary dyskinesia
- p.Leu3276= Multiple submitters primary ciliary dyskinesia
- p.Leu3543Phe Multiple submitters primary ciliary dyskinesia
- p.Leu4124Val Multiple submitters primary ciliary dyskinesia 7
- p.Leu4174Arg Multiple submitters primary ciliary dyskinesia
- p.Leu4361= Multiple submitters primary ciliary dyskinesia
- p.Leu4376= Multiple submitters primary ciliary dyskinesia
- p.Leu660= Multiple submitters primary ciliary dyskinesia
- p.Lys3687Glu Multiple submitters primary ciliary dyskinesia
- p.Lys3734Gln Multiple submitters primary ciliary dyskinesia
- p.Lys4501Arg Multiple submitters primary ciliary dyskinesia
- p.Met1316Val Multiple submitters primary ciliary dyskinesia
- p.Met221Ile Multiple submitters primary ciliary dyskinesia
- p.Met221Leu Multiple submitters primary ciliary dyskinesia
- p.Met2496Val Multiple submitters primary ciliary dyskinesia
- p.Met3887Val Multiple submitters primary ciliary dyskinesia
- p.Met4165Val Multiple submitters primary ciliary dyskinesia 7
- p.Phe2430= Multiple submitters primary ciliary dyskinesia
- p.Phe2666= Multiple submitters primary ciliary dyskinesia
- p.Phe2717= Multiple submitters primary ciliary dyskinesia
- p.Phe3170= Multiple submitters primary ciliary dyskinesia
- p.Phe3806= Multiple submitters primary ciliary dyskinesia
- p.Phe560Leu Multiple submitters primary ciliary dyskinesia
- p.Phe61= Multiple submitters primary ciliary dyskinesia
- p.Phe652= Multiple submitters primary ciliary dyskinesia
- p.Pro119Ala Multiple submitters primary ciliary dyskinesia
- p.Pro1729Ser Multiple submitters primary ciliary dyskinesia
- p.Pro1891Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro2673= Multiple submitters primary ciliary dyskinesia
- p.Pro3264Ser Multiple submitters primary ciliary dyskinesia
- p.Pro3439= Multiple submitters primary ciliary dyskinesia
- p.Pro355= Multiple submitters primary ciliary dyskinesia
- p.Pro3590Ala Multiple submitters primary ciliary dyskinesia
- p.Pro3594= Multiple submitters primary ciliary dyskinesia
- p.Pro3626Gln Multiple submitters primary ciliary dyskinesia
- p.Pro3935= Multiple submitters primary ciliary dyskinesia
- p.Pro4204= Multiple submitters primary ciliary dyskinesia
- p.Pro4421Leu Multiple submitters primary ciliary dyskinesia
- p.Pro4458= Multiple submitters primary ciliary dyskinesia
- p.Pro629Ser Multiple submitters primary ciliary dyskinesia 7
- p.Ser1128= Multiple submitters primary ciliary dyskinesia
- p.Ser185= Multiple submitters primary ciliary dyskinesia
- p.Ser2431Ile Multiple submitters primary ciliary dyskinesia
- p.Ser2445= Multiple submitters primary ciliary dyskinesia
- p.Ser2663= Multiple submitters primary ciliary dyskinesia
- p.Ser313= Multiple submitters primary ciliary dyskinesia
- p.Ser3758Pro Multiple submitters primary ciliary dyskinesia
- p.Ser4328= Multiple submitters primary ciliary dyskinesia
- p.Ser654Cys Multiple submitters primary ciliary dyskinesia
- p.Thr1038Ala Multiple submitters primary ciliary dyskinesia
- p.Thr1381= Multiple submitters primary ciliary dyskinesia
- p.Thr1428Ala Multiple submitters primary ciliary dyskinesia
- p.Thr1457Ile Multiple submitters primary ciliary dyskinesia
- p.Thr18= Multiple submitters primary ciliary dyskinesia
- p.Thr2048Met Multiple submitters primary ciliary dyskinesia
- p.Thr2542= Multiple submitters primary ciliary dyskinesia
- p.Thr2632= Multiple submitters primary ciliary dyskinesia
- p.Thr2991= Multiple submitters primary ciliary dyskinesia
- p.Thr309Ala Multiple submitters primary ciliary dyskinesia
- p.Thr3145= Multiple submitters primary ciliary dyskinesia 7
- p.Thr3163Ala Multiple submitters primary ciliary dyskinesia
- p.Thr3464Ile Multiple submitters primary ciliary dyskinesia
- p.Thr400Ile Multiple submitters primary ciliary dyskinesia
- p.Thr4170Ile Multiple submitters primary ciliary dyskinesia
- p.Thr4219= Multiple submitters primary ciliary dyskinesia
- p.Thr529Ser Multiple submitters primary ciliary dyskinesia
- p.Thr73= Multiple submitters primary ciliary dyskinesia
- p.Thr801= Multiple submitters primary ciliary dyskinesia
- p.Tyr1212His Multiple submitters primary ciliary dyskinesia
- p.Tyr1475= Multiple submitters primary ciliary dyskinesia
- p.Tyr2191= Multiple submitters primary ciliary dyskinesia
- p.Tyr2233Cys Multiple submitters primary ciliary dyskinesia
- p.Tyr2586His Multiple submitters primary ciliary dyskinesia
- p.Tyr3258= Multiple submitters primary ciliary dyskinesia
- p.Tyr3510= Multiple submitters primary ciliary dyskinesia
- p.Tyr4418= Multiple submitters primary ciliary dyskinesia
- p.Val1023Ala Multiple submitters primary ciliary dyskinesia 7
- p.Val1631Ile Multiple submitters primary ciliary dyskinesia
- p.Val2518Ile Multiple submitters primary ciliary dyskinesia
- p.Val2589Ile Multiple submitters primary ciliary dyskinesia
- p.Val2716Ile Multiple submitters primary ciliary dyskinesia
- p.Val3708Leu Multiple submitters primary ciliary dyskinesia
- p.Val4467Met Multiple submitters primary ciliary dyskinesia
- p.Val59= Multiple submitters primary ciliary dyskinesia
- p.Val848Met Multiple submitters primary ciliary dyskinesia 7
Likely benign 2793
Showing the top 300 by review status; the full set is in the sitemap.
- c.10026+18C>G Multiple submitters primary ciliary dyskinesia
- c.10027-6A>G Multiple submitters primary ciliary dyskinesia
- c.10332+156T>C Multiple submitters
- c.10692-16G>T Multiple submitters primary ciliary dyskinesia
- c.10692-67A>G Multiple submitters
- c.10896+18A>G Multiple submitters primary ciliary dyskinesia
- c.11061+10G>A Multiple submitters primary ciliary dyskinesia
- c.11061+20C>T Multiple submitters primary ciliary dyskinesia
- c.11203-4C>T Multiple submitters primary ciliary dyskinesia
- c.11374-4C>G Multiple submitters primary ciliary dyskinesia
- c.11496+9G>A Multiple submitters primary ciliary dyskinesia
- c.11497-16C>G Multiple submitters primary ciliary dyskinesia
- c.11497-39G>A Multiple submitters
- c.11691-19A>T Multiple submitters primary ciliary dyskinesia
- c.11839+8G>C Multiple submitters primary ciliary dyskinesia
- c.11839+9del Multiple submitters primary ciliary dyskinesia
- c.11840-129G>A Multiple submitters
- c.11968-18C>A Multiple submitters primary ciliary dyskinesia
- c.12195+10C>A Multiple submitters primary ciliary dyskinesia 7
- c.12195+11G>A Multiple submitters primary ciliary dyskinesia
- c.12387+8C>G Multiple submitters primary ciliary dyskinesia
- c.12508-14C>T Multiple submitters primary ciliary dyskinesia
- c.12750+8G>A Multiple submitters primary ciliary dyskinesia
- c.12934-5G>C Multiple submitters primary ciliary dyskinesia
- c.13049+15C>T Multiple submitters primary ciliary dyskinesia
- c.13162+12C>T Multiple submitters primary ciliary dyskinesia
- c.13163-56C>T Multiple submitters
- c.13304-18_13304-17del Multiple submitters primary ciliary dyskinesia
- c.1425+14G>A Multiple submitters primary ciliary dyskinesia
- c.1594-16A>T Multiple submitters primary ciliary dyskinesia
- c.1973+8G>C Multiple submitters primary ciliary dyskinesia
- c.2170-104T>C Multiple submitters
- c.2274+11T>G Multiple submitters primary ciliary dyskinesia
- c.3425+5C>G Multiple submitters primary ciliary dyskinesia
- c.3426-18T>G Multiple submitters primary ciliary dyskinesia
- c.351+17A>G Multiple submitters primary ciliary dyskinesia
- c.3649-20T>C Multiple submitters primary ciliary dyskinesia
- c.3852+16A>G Multiple submitters primary ciliary dyskinesia
- c.3852+30A>G Multiple submitters
- c.3853-79G>C Multiple submitters
- c.4012-8G>A Multiple submitters primary ciliary dyskinesia
- c.4254+13G>A Multiple submitters primary ciliary dyskinesia
- c.4254+8T>C Multiple submitters primary ciliary dyskinesia
- c.4255-5A>T Multiple submitters primary ciliary dyskinesia
- c.4377+12G>A Multiple submitters primary ciliary dyskinesia
- c.4378-17_4378-16insATTTG Multiple submitters primary ciliary dyskinesia
- c.4725+13C>G Multiple submitters primary ciliary dyskinesia
- c.4726-109G>C Multiple submitters
- c.4817+15A>G Multiple submitters primary ciliary dyskinesia
- c.4817+7A>T Multiple submitters primary ciliary dyskinesia
- c.4817+85T>C Multiple submitters
- c.4818-6A>T Multiple submitters primary ciliary dyskinesia
- c.4944+7T>C Multiple submitters primary ciliary dyskinesia
- c.4945-12T>C Multiple submitters primary ciliary dyskinesia
- c.4945-16A>G Multiple submitters primary ciliary dyskinesia
- c.495+18A>G Multiple submitters primary ciliary dyskinesia 7
- c.496-18A>G Multiple submitters primary ciliary dyskinesia
- c.5095-97G>T Multiple submitters
- c.5329-19A>C Multiple submitters primary ciliary dyskinesia
- c.5329-9T>C Multiple submitters primary ciliary dyskinesia
- c.5461-19G>T Multiple submitters primary ciliary dyskinesia
- c.5621+20G>A Multiple submitters primary ciliary dyskinesia
- c.6042-12T>C Multiple submitters primary ciliary dyskinesia
- c.6180+20G>A Multiple submitters primary ciliary dyskinesia
- c.6273+9A>C Multiple submitters primary ciliary dyskinesia
- c.6274-14del Multiple submitters primary ciliary dyskinesia
- c.6274-5T>C Multiple submitters primary ciliary dyskinesia
- c.6547-83C>T Multiple submitters
- c.6683+17A>C Multiple submitters primary ciliary dyskinesia
- c.6684-12A>G Multiple submitters primary ciliary dyskinesia 7
- c.6834+20T>C Multiple submitters primary ciliary dyskinesia
- c.6835-56C>A Multiple submitters
- c.6984-18T>C Multiple submitters primary ciliary dyskinesia
- c.6984-8C>T Multiple submitters primary ciliary dyskinesia
- c.7135-18C>T Multiple submitters primary ciliary dyskinesia
- c.7441-10C>G Multiple submitters primary ciliary dyskinesia
- c.7645+59A>T Multiple submitters
- c.7812-12T>C Multiple submitters primary ciliary dyskinesia
- c.8154+19G>T Multiple submitters primary ciliary dyskinesia
- c.8155-16C>T Multiple submitters primary ciliary dyskinesia
- c.8510+15C>G Multiple submitters primary ciliary dyskinesia
- c.8511-15G>T Multiple submitters primary ciliary dyskinesia
- c.8797+12A>G Multiple submitters primary ciliary dyskinesia
- c.8798-108C>T Multiple submitters
- c.8798-36T>C Multiple submitters
- c.8798-4G>A Multiple submitters primary ciliary dyskinesia
- c.8941-12A>T Multiple submitters primary ciliary dyskinesia
- c.9102+20G>T Multiple submitters primary ciliary dyskinesia
- c.9337-88A>G Multiple submitters
- c.9483+68C>A Multiple submitters
- c.9484-12C>T Multiple submitters primary ciliary dyskinesia
- c.9484-16T>C Multiple submitters primary ciliary dyskinesia
- c.9597+86C>A Multiple submitters
- c.982+11T>C Multiple submitters primary ciliary dyskinesia
- c.9925-7T>C Multiple submitters primary ciliary dyskinesia
- c.-119C>T Multiple submitters
- p.Ala1281= Multiple submitters primary ciliary dyskinesia 7
- p.Ala153= Multiple submitters primary ciliary dyskinesia
- p.Ala1809= Multiple submitters primary ciliary dyskinesia
- p.Ala3001= Multiple submitters primary ciliary dyskinesia
- p.Ala3013= Multiple submitters primary ciliary dyskinesia
- p.Ala3134= Multiple submitters primary ciliary dyskinesia
- p.Ala3155= Multiple submitters primary ciliary dyskinesia
- p.Ala3192= Multiple submitters primary ciliary dyskinesia
- p.Ala3321= Multiple submitters primary ciliary dyskinesia
- p.Ala3415= Multiple submitters primary ciliary dyskinesia
- p.Ala3466= Multiple submitters primary ciliary dyskinesia
- p.Ala3743= Multiple submitters primary ciliary dyskinesia
- p.Ala3835= Multiple submitters primary ciliary dyskinesia
- p.Ala3906= Multiple submitters primary ciliary dyskinesia
- p.Ala748= Multiple submitters primary ciliary dyskinesia
- p.Arg1338= Multiple submitters primary ciliary dyskinesia
- p.Arg1395= Multiple submitters primary ciliary dyskinesia
- p.Arg1949= Multiple submitters primary ciliary dyskinesia
- p.Arg2362Thr Multiple submitters primary ciliary dyskinesia
- p.Arg2535Cys Multiple submitters primary ciliary dyskinesia
- p.Arg2872Cys Multiple submitters primary ciliary dyskinesia
- p.Arg3098= Multiple submitters primary ciliary dyskinesia
- p.Arg3150= Multiple submitters primary ciliary dyskinesia
- p.Arg3160= Multiple submitters primary ciliary dyskinesia
- p.Arg358Gly Multiple submitters primary ciliary dyskinesia
- p.Arg4158Gln Multiple submitters primary ciliary dyskinesia
- p.Arg4469Lys Multiple submitters primary ciliary dyskinesia
- p.Arg65= Multiple submitters primary ciliary dyskinesia
- p.Asn226= Multiple submitters primary ciliary dyskinesia
- p.Asn2715= Multiple submitters primary ciliary dyskinesia
- p.Asn3578= Multiple submitters primary ciliary dyskinesia
- p.Asn4236= Multiple submitters primary ciliary dyskinesia
- p.Asn4352Ser Multiple submitters primary ciliary dyskinesia
- p.Asn833= Multiple submitters primary ciliary dyskinesia
- p.Asp1571= Multiple submitters primary ciliary dyskinesia
- p.Asp2351= Multiple submitters primary ciliary dyskinesia
- p.Asp2455= Multiple submitters primary ciliary dyskinesia
- p.Asp2576= Multiple submitters primary ciliary dyskinesia
- p.Asp2600= Multiple submitters primary ciliary dyskinesia
- p.Asp3115= Multiple submitters primary ciliary dyskinesia
- p.Asp334= Multiple submitters primary ciliary dyskinesia
- p.Asp3890= Multiple submitters primary ciliary dyskinesia
- p.Asp807His Multiple submitters primary ciliary dyskinesia
- p.Cys1875= Multiple submitters primary ciliary dyskinesia
- p.Cys227Ser Multiple submitters primary ciliary dyskinesia
- p.Cys290= Multiple submitters primary ciliary dyskinesia
- p.Cys515= Multiple submitters primary ciliary dyskinesia
- p.Gln1540= Multiple submitters primary ciliary dyskinesia
- p.Gln2608= Multiple submitters primary ciliary dyskinesia
- p.Gln2781His Multiple submitters primary ciliary dyskinesia
- p.Gln3322= Multiple submitters primary ciliary dyskinesia
- p.Gln3403= Multiple submitters primary ciliary dyskinesia
- p.Gln3500= Multiple submitters primary ciliary dyskinesia
- p.Gln3597= Multiple submitters primary ciliary dyskinesia
- p.Gln4245= Multiple submitters primary ciliary dyskinesia
- p.Gln608= Multiple submitters primary ciliary dyskinesia
- p.Glu1692= Multiple submitters primary ciliary dyskinesia
- p.Glu1953= Multiple submitters primary ciliary dyskinesia
- p.Glu2403= Multiple submitters primary ciliary dyskinesia
- p.Glu2437= Multiple submitters primary ciliary dyskinesia
- p.Glu3314= Multiple submitters primary ciliary dyskinesia
- p.Glu3703Gln Multiple submitters primary ciliary dyskinesia
- p.Glu390= Multiple submitters primary ciliary dyskinesia
- p.Glu42= Multiple submitters primary ciliary dyskinesia
- p.Glu4515= Multiple submitters primary ciliary dyskinesia
- p.Glu935Lys Multiple submitters primary ciliary dyskinesia
- p.Gly2260= Multiple submitters primary ciliary dyskinesia
- p.Gly31= Multiple submitters primary ciliary dyskinesia
- p.Gly3662= Multiple submitters primary ciliary dyskinesia
- p.Gly4419= Multiple submitters primary ciliary dyskinesia
- p.Gly71= Multiple submitters primary ciliary dyskinesia
- p.His1067= Multiple submitters primary ciliary dyskinesia
- p.His3037Arg Multiple submitters primary ciliary dyskinesia
- p.His3132= Multiple submitters primary ciliary dyskinesia
- p.His3814= Multiple submitters primary ciliary dyskinesia
- p.His3984= Multiple submitters primary ciliary dyskinesia
- p.His505= Multiple submitters primary ciliary dyskinesia
- p.His665= Multiple submitters primary ciliary dyskinesia
- p.Ile1088= Multiple submitters primary ciliary dyskinesia
- p.Ile1799= Multiple submitters primary ciliary dyskinesia
- p.Ile1950= Multiple submitters primary ciliary dyskinesia
- p.Ile2026= Multiple submitters primary ciliary dyskinesia
- p.Ile2267= Multiple submitters primary ciliary dyskinesia
- p.Ile2368= Multiple submitters primary ciliary dyskinesia
- p.Ile2935= Multiple submitters primary ciliary dyskinesia
- p.Ile3154= Multiple submitters primary ciliary dyskinesia
- p.Ile4301= Multiple submitters primary ciliary dyskinesia
- p.Ile792Val Multiple submitters primary ciliary dyskinesia
- p.Leu1028= Multiple submitters primary ciliary dyskinesia
- p.Leu1193= Multiple submitters primary ciliary dyskinesia
- p.Leu1383= Multiple submitters primary ciliary dyskinesia
- p.Leu1405= Multiple submitters primary ciliary dyskinesia
- p.Leu1526= Multiple submitters primary ciliary dyskinesia
- p.Leu1614= Multiple submitters primary ciliary dyskinesia
- p.Leu1663= Multiple submitters primary ciliary dyskinesia
- p.Leu1761= Multiple submitters primary ciliary dyskinesia
- p.Leu1871= Multiple submitters primary ciliary dyskinesia
- p.Leu2203= Multiple submitters primary ciliary dyskinesia
- p.Leu2297= Multiple submitters primary ciliary dyskinesia
- p.Leu2346= Multiple submitters primary ciliary dyskinesia
- p.Leu2376= Multiple submitters primary ciliary dyskinesia
- p.Leu2498= Multiple submitters primary ciliary dyskinesia
- p.Leu2676= Multiple submitters primary ciliary dyskinesia
- p.Leu330= Multiple submitters primary ciliary dyskinesia
- p.Leu3432= Multiple submitters primary ciliary dyskinesia
- p.Leu3525= Multiple submitters primary ciliary dyskinesia
- p.Leu3554= Multiple submitters primary ciliary dyskinesia
- p.Leu3635= Multiple submitters primary ciliary dyskinesia
- p.Leu3655= Multiple submitters primary ciliary dyskinesia
- p.Leu3793= Multiple submitters primary ciliary dyskinesia
- p.Leu3817= Multiple submitters primary ciliary dyskinesia
- p.Leu3823= Multiple submitters primary ciliary dyskinesia
- p.Leu3877= Multiple submitters primary ciliary dyskinesia
- p.Leu3916Ser Multiple submitters primary ciliary dyskinesia
- p.Leu4238= Multiple submitters primary ciliary dyskinesia
- p.Leu4316= Multiple submitters primary ciliary dyskinesia
- p.Leu4485= Multiple submitters primary ciliary dyskinesia
- p.Leu490= Multiple submitters primary ciliary dyskinesia
- p.Leu849= Multiple submitters primary ciliary dyskinesia
- p.Leu901= Multiple submitters primary ciliary dyskinesia
- p.Lys1388= Multiple submitters primary ciliary dyskinesia
- p.Lys2436= Multiple submitters primary ciliary dyskinesia
- p.Lys2794= Multiple submitters primary ciliary dyskinesia
- p.Lys3087= Multiple submitters primary ciliary dyskinesia
- p.Lys3374= Multiple submitters primary ciliary dyskinesia
- p.Lys752= Multiple submitters primary ciliary dyskinesia
- p.Met2473Val Multiple submitters primary ciliary dyskinesia
- p.Phe148= Multiple submitters primary ciliary dyskinesia
- p.Phe1630= Multiple submitters primary ciliary dyskinesia
- p.Phe1689= Multiple submitters primary ciliary dyskinesia
- p.Phe4019= Multiple submitters primary ciliary dyskinesia
- p.Phe4494= Multiple submitters primary ciliary dyskinesia
- p.Pro1115= Multiple submitters primary ciliary dyskinesia
- p.Pro1238= Multiple submitters primary ciliary dyskinesia
- p.Pro1403= Multiple submitters primary ciliary dyskinesia
- p.Pro2088= Multiple submitters primary ciliary dyskinesia
- p.Pro2308= Multiple submitters primary ciliary dyskinesia
- p.Pro233= Multiple submitters primary ciliary dyskinesia
- p.Pro3209= Multiple submitters primary ciliary dyskinesia
- p.Pro3727= Multiple submitters primary ciliary dyskinesia
- p.Pro3819= Multiple submitters primary ciliary dyskinesia
- p.Pro4110Thr Multiple submitters primary ciliary dyskinesia
- p.Pro4131= Multiple submitters primary ciliary dyskinesia
- p.Pro4178= Multiple submitters primary ciliary dyskinesia
- p.Pro4421= Multiple submitters primary ciliary dyskinesia
- p.Pro783= Multiple submitters primary ciliary dyskinesia
- p.Pro940= Multiple submitters primary ciliary dyskinesia
- p.Pro942= Multiple submitters primary ciliary dyskinesia
- p.Ser1061= Multiple submitters primary ciliary dyskinesia
- p.Ser1181Gly Multiple submitters primary ciliary dyskinesia
- p.Ser1548= Multiple submitters primary ciliary dyskinesia
- p.Ser1681= Multiple submitters primary ciliary dyskinesia
- p.Ser2940= Multiple submitters primary ciliary dyskinesia
- p.Ser2986= Multiple submitters primary ciliary dyskinesia
- p.Ser3093= Multiple submitters primary ciliary dyskinesia
- p.Ser3122= Multiple submitters primary ciliary dyskinesia
- p.Ser3399= Multiple submitters primary ciliary dyskinesia
- p.Ser373= Multiple submitters primary ciliary dyskinesia
- p.Ser4377= Multiple submitters primary ciliary dyskinesia
- p.Ser4498= Multiple submitters primary ciliary dyskinesia
- p.Ser960= Multiple submitters primary ciliary dyskinesia
- p.Thr1391= Multiple submitters primary ciliary dyskinesia
- p.Thr1467= Multiple submitters primary ciliary dyskinesia
- p.Thr1713= Multiple submitters primary ciliary dyskinesia
- p.Thr1719= Multiple submitters primary ciliary dyskinesia
- p.Thr2048= Multiple submitters primary ciliary dyskinesia
- p.Thr2700= Multiple submitters primary ciliary dyskinesia
- p.Thr2814= Multiple submitters primary ciliary dyskinesia
- p.Thr3375= Multiple submitters primary ciliary dyskinesia
- p.Thr3480= Multiple submitters primary ciliary dyskinesia
- p.Thr3970= Multiple submitters primary ciliary dyskinesia
- p.Thr4045= Multiple submitters primary ciliary dyskinesia
- p.Thr4224= Multiple submitters primary ciliary dyskinesia
- p.Thr4247= Multiple submitters primary ciliary dyskinesia
- p.Thr4369= Multiple submitters primary ciliary dyskinesia
- p.Thr4392= Multiple submitters primary ciliary dyskinesia
- p.Thr4475= Multiple submitters primary ciliary dyskinesia
- p.Thr934= Multiple submitters primary ciliary dyskinesia
- p.Tyr1039= Multiple submitters primary ciliary dyskinesia
- p.Tyr1203= Multiple submitters primary ciliary dyskinesia
- p.Tyr1597= Multiple submitters primary ciliary dyskinesia
- p.Tyr1765= Multiple submitters primary ciliary dyskinesia
- p.Tyr2233= Multiple submitters primary ciliary dyskinesia
- p.Tyr3307= Multiple submitters primary ciliary dyskinesia
- p.Tyr4476= Multiple submitters primary ciliary dyskinesia
- p.Val1353= Multiple submitters primary ciliary dyskinesia
- p.Val1419= Multiple submitters primary ciliary dyskinesia
- p.Val1754= Multiple submitters primary ciliary dyskinesia
- p.Val2117= Multiple submitters primary ciliary dyskinesia
- p.Val2404= Multiple submitters primary ciliary dyskinesia
- p.Val2509= Multiple submitters primary ciliary dyskinesia
- p.Val2583= Multiple submitters primary ciliary dyskinesia
- p.Val2621= Multiple submitters primary ciliary dyskinesia
- p.Val2924Met Multiple submitters primary ciliary dyskinesia
- p.Val3313= Multiple submitters primary ciliary dyskinesia
- p.Val335Met Multiple submitters primary ciliary dyskinesia
- p.Val3495= Multiple submitters primary ciliary dyskinesia
- p.Val3738Met Multiple submitters primary ciliary dyskinesia
- p.Val420= Multiple submitters primary ciliary dyskinesia
- p.Val4373= Multiple submitters primary ciliary dyskinesia
- p.Val4459= Multiple submitters primary ciliary dyskinesia
- p.Val583= Multiple submitters primary ciliary dyskinesia
- c.10026+12C>G Single submitter primary ciliary dyskinesia
- c.10026+12C>T Single submitter primary ciliary dyskinesia
Uncertain significance 1201
Showing the top 300 by review status; the full set is in the sitemap.
- c.10165+1_10165+3dup Multiple submitters primary ciliary dyskinesia
- c.3000+3A>G Multiple submitters primary ciliary dyskinesia
- c.5094+4A>G Multiple submitters primary ciliary dyskinesia 7
- c.5924+5G>A Multiple submitters primary ciliary dyskinesia
- c.6180+3G>A Multiple submitters primary ciliary dyskinesia
- c.8941-3C>T Multiple submitters primary ciliary dyskinesia
- p.Ala1291Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala2851Gly Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Ala3240Thr Multiple submitters primary ciliary dyskinesia
- p.Ala3254Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala3388Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala3895Pro Multiple submitters primary ciliary dyskinesia
- p.Ala3906Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala399Ser Multiple submitters primary ciliary dyskinesia
- p.Ala46Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala666Thr Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Arg1362del Multiple submitters primary ciliary dyskinesia
- p.Arg1606Gly Multiple submitters primary ciliary dyskinesia
- p.Arg1627His Multiple submitters primary ciliary dyskinesia 7
- p.Arg1627Pro Multiple submitters DNAH11-related disorder ⚠
- p.Arg1970Ser Multiple submitters primary ciliary dyskinesia
- p.Arg2139Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg2639Thr Multiple submitters primary ciliary dyskinesia
- p.Arg2891Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg2891Trp Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Arg3229Trp Multiple submitters primary ciliary dyskinesia
- p.Arg3888His Multiple submitters primary ciliary dyskinesia 7
- p.Arg3888Ser Multiple submitters primary ciliary dyskinesia
- p.Arg3949Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4136Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4154Cys Multiple submitters primary ciliary dyskinesia
- p.Arg4297Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4437Cys Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Arg4437His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4449Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn1001Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn2271Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn2285Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn3640Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn3726Ile Multiple submitters primary ciliary dyskinesia
- p.Asn432Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp1753Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp1811Glu Multiple submitters primary ciliary dyskinesia
- p.Cys1592Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln1466Arg Multiple submitters ⚠
- p.Gln1690Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln2548Arg Multiple submitters primary ciliary dyskinesia
- p.Gln2660His Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Gln3521Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln3599Glu Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Gln4474Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln4474Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln639Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu1047Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu3158Lys Multiple submitters primary ciliary dyskinesia
- p.Glu40_Asn41insGlu Multiple submitters primary ciliary dyskinesia
- p.Glu44_Ala45insGluGluAsnGluGluGlu Multiple submitters primary ciliary dyskinesia
- p.Glu4477Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu4500Gly Multiple submitters DNAH11-related disorder ⚠
- p.Glu889Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly2773Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly2773Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly3523Val Multiple submitters primary ciliary dyskinesia
- p.Gly4011Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly4051Arg Multiple submitters primary ciliary dyskinesia
- p.Gly4435Cys Multiple submitters primary ciliary dyskinesia
- p.Gly4443Glu Multiple submitters primary ciliary dyskinesia
- p.His1835Tyr Multiple submitters primary ciliary dyskinesia
- p.His1843Pro Multiple submitters primary ciliary dyskinesia 7
- p.His3047Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.His3984Pro Multiple submitters primary ciliary dyskinesia
- p.His4088Tyr Multiple submitters primary ciliary dyskinesia
- p.His458Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.His591Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile1417Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile1549Val Multiple submitters primary ciliary dyskinesia
- p.Ile166Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu1177Pro Multiple submitters primary ciliary dyskinesia
- p.Leu1653Phe Multiple submitters primary ciliary dyskinesia
- p.Leu1816Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu2057Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu2155Phe Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Leu2728Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu2853Ser Multiple submitters primary ciliary dyskinesia
- p.Leu3276Val Multiple submitters primary ciliary dyskinesia
- p.Leu3351Val Multiple submitters primary ciliary dyskinesia
- p.Leu3494Val Multiple submitters primary ciliary dyskinesia
- p.Leu349Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu3776Pro Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Leu459Val Multiple submitters primary ciliary dyskinesia
- p.Leu62Pro Multiple submitters primary ciliary dyskinesia
- p.Leu706Phe Multiple submitters primary ciliary dyskinesia
- p.Lys1284= Multiple submitters primary ciliary dyskinesia
- p.Lys1510Met Multiple submitters primary ciliary dyskinesia
- p.Lys198del Multiple submitters primary ciliary dyskinesia 7
- p.Lys3340Thr Multiple submitters primary ciliary dyskinesia
- p.Lys4261Glu Multiple submitters primary ciliary dyskinesia
- p.Lys723Asn Multiple submitters primary ciliary dyskinesia
- p.Lys76Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Met1414Ile Multiple submitters primary ciliary dyskinesia
- p.Met4198Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe2443Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe2971Leu Multiple submitters DNAH11-related disorder
- p.Phe969Leu Multiple submitters primary ciliary dyskinesia
- p.Pro2591Leu Multiple submitters primary ciliary dyskinesia
- p.Pro4421Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser1831Thr Multiple submitters primary ciliary dyskinesia 7 ⚠
- p.Ser2341Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser3396Pro Multiple submitters primary ciliary dyskinesia
- p.Ser4118Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr1462Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr2003Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr4000Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr4404Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr4444Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr4472_Lys4473insGlnGluThr Multiple submitters primary ciliary dyskinesia 7
- p.Tyr1279Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr2329Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr2353His Multiple submitters primary ciliary dyskinesia
- p.Tyr2885Cys Multiple submitters primary ciliary dyskinesia
- p.Tyr3565Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr3729Phe Multiple submitters primary ciliary dyskinesia
- p.Tyr4329Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr4490Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Val1846Asp Multiple submitters primary ciliary dyskinesia
- p.Val2073Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val3162Met Multiple submitters primary ciliary dyskinesia
- p.Val4159Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Val780Ile Multiple submitters primary ciliary dyskinesia ⚠
- c.10026+4530C>G Single submitter
- c.10165+6A>T Single submitter primary ciliary dyskinesia
- c.10332+30G>A Single submitter primary ciliary dyskinesia 7
- c.10332+3A>G Single submitter primary ciliary dyskinesia
- c.11061+4G>A Single submitter primary ciliary dyskinesia
- c.11203-9A>G Single submitter primary ciliary dyskinesia 7
- c.11690+6G>A Single submitter primary ciliary dyskinesia
- c.11691-19delinsTG Single submitter
- c.11839+219T>G Single submitter primary ciliary dyskinesia 7
- c.1194+3A>G Single submitter primary ciliary dyskinesia
- c.1194+6_1194+8del Single submitter primary ciliary dyskinesia
- c.11967+4A>C Single submitter
- c.11968-3C>A Single submitter
- c.11968-4T>C Single submitter primary ciliary dyskinesia
- c.12195+3A>G Single submitter primary ciliary dyskinesia
- c.12387+4A>C Single submitter primary ciliary dyskinesia
- c.12750+6G>A Single submitter primary ciliary dyskinesia
- c.12934-2del Single submitter primary ciliary dyskinesia
- c.13049+3A>G Single submitter primary ciliary dyskinesia
- c.13049+5G>A Single submitter primary ciliary dyskinesia 7
- c.13162+3A>T Single submitter
- c.13163-27_13163-11del Single submitter primary ciliary dyskinesia
- c.13303+3_13303+43dup Single submitter primary ciliary dyskinesia
- c.13303+3_13303+6dup Single submitter primary ciliary dyskinesia
- c.13303+9C>G Single submitter
- c.13304-2A>G Single submitter primary ciliary dyskinesia
- c.1425+1G>T Single submitter primary ciliary dyskinesia 7
- c.1425+3A>G Single submitter
- c.1426-12T>A Single submitter primary ciliary dyskinesia
- c.1426-14_1426-10delinsG Single submitter primary ciliary dyskinesia 7
- c.1710+3T>G Single submitter primary ciliary dyskinesia
- c.1848+1G>T Single submitter primary ciliary dyskinesia 7
- c.1973+6T>C Single submitter primary ciliary dyskinesia
- c.2169+6G>T Single submitter primary ciliary dyskinesia
- c.3000+4T>C Single submitter primary ciliary dyskinesia
- c.351+6A>T Single submitter primary ciliary dyskinesia
- c.3648+3A>G Single submitter primary ciliary dyskinesia
- c.3648+5G>T Single submitter primary ciliary dyskinesia
- c.3765+3A>C Single submitter
- c.3765+6C>G Single submitter primary ciliary dyskinesia
- c.3853-5C>T Single submitter primary ciliary dyskinesia
- c.4012-3C>A Single submitter primary ciliary dyskinesia
- c.4095+3G>A Single submitter primary ciliary dyskinesia
- c.4725+5G>A Single submitter primary ciliary dyskinesia
- c.4817+6A>C Single submitter primary ciliary dyskinesia
- c.4817+6A>T Single submitter primary ciliary dyskinesia
- c.4818-282C>G Single submitter
- c.4944+553C>G Single submitter
- c.4944+6A>G Single submitter primary ciliary dyskinesia
- c.495+12_495+13insGATGAGTACTGCTTTC Single submitter primary ciliary dyskinesia
- c.495+2T>C Single submitter primary ciliary dyskinesia 7
- c.496-10C>G Single submitter primary ciliary dyskinesia 7
- c.5329-7C>G Single submitter
- c.5461-10A>G Single submitter primary ciliary dyskinesia
- c.6180+6G>A Single submitter primary ciliary dyskinesia
- c.6273+1G>T Single submitter primary ciliary dyskinesia 7
- c.6273+5T>G Single submitter primary ciliary dyskinesia
- c.6546+4T>C Single submitter primary ciliary dyskinesia
- c.6546+5A>C Single submitter primary ciliary dyskinesia
- c.6546+5A>G Single submitter primary ciliary dyskinesia
- c.6683+2T>A Single submitter primary ciliary dyskinesia
- c.6834+3G>A Single submitter primary ciliary dyskinesia
- c.6834+5A>G Single submitter primary ciliary dyskinesia
- c.692+3A>G Single submitter primary ciliary dyskinesia
- c.692+4C>T Single submitter primary ciliary dyskinesia
- c.6983+5G>A Single submitter primary ciliary dyskinesia
- c.6984-3C>T Single submitter primary ciliary dyskinesia
- c.7266+5_7266+8delinsA Single submitter primary ciliary dyskinesia
- c.7266+8T>A Single submitter primary ciliary dyskinesia
- c.7646-60_7646-11del Single submitter primary ciliary dyskinesia
- c.7811+5G>A Single submitter primary ciliary dyskinesia
- c.7811+5G>C Single submitter primary ciliary dyskinesia
- c.7811+6C>T Single submitter primary ciliary dyskinesia
- c.7915-6T>G Single submitter
- c.8316+5G>A Single submitter primary ciliary dyskinesia
- c.8510+5G>A Single submitter primary ciliary dyskinesia
- c.8797+10C>T Single submitter
- c.8941-6C>G Single submitter
- c.9336+3A>G Single submitter primary ciliary dyskinesia
- c.9483+1G>A Single submitter
- c.9597+5A>C Single submitter
- c.9924+2dup Single submitter primary ciliary dyskinesia
- c.9925-8A>T Single submitter
- c.*263C>T Single submitter primary ciliary dyskinesia 7
- c.*280A>G Single submitter primary ciliary dyskinesia 7
- p.Ala1066Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1068Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala107Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1091Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala114Val Single submitter ⚠
- p.Ala1178Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala1256Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala1269Val Single submitter ⚠
- p.Ala1281Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala1379Thr Single submitter ⚠
- p.Ala1469Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala153Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala1564Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala1582Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala161Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala1634Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala1895Ser Single submitter primary ciliary dyskinesia
- p.Ala1940Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala1982Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala2077Pro Single submitter primary ciliary dyskinesia
- p.Ala2246Pro Single submitter primary ciliary dyskinesia
- p.Ala2306Ser Single submitter primary ciliary dyskinesia 7 ⚠
- p.Ala2469Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala2469Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala2525Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala2546Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala2672Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala276Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala2833Thr Single submitter
- p.Ala2869Val Single submitter primary ciliary dyskinesia
- p.Ala2957Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala2973Ser Single submitter ⚠
- p.Ala3136Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala3220Thr Single submitter primary ciliary dyskinesia
- p.Ala3220Val Single submitter primary ciliary dyskinesia
- p.Ala3321Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3330Val Single submitter primary ciliary dyskinesia
- p.Ala3336Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala3336Ser Single submitter primary ciliary dyskinesia 7 ⚠
- p.Ala3358Thr Single submitter primary ciliary dyskinesia
- p.Ala3358Val Single submitter primary ciliary dyskinesia
- p.Ala3360Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3466Thr Single submitter
- p.Ala3467Pro Single submitter
- p.Ala3588Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala3598Gly Single submitter primary ciliary dyskinesia
- p.Ala3709Val Single submitter primary ciliary dyskinesia
- p.Ala3712Ser Single submitter ⚠
- p.Ala3743Thr Single submitter
- p.Ala3767Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala3775Thr Single submitter primary ciliary dyskinesia
- p.Ala3830Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3833Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala3995Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala401Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala4054Pro Single submitter primary ciliary dyskinesia
- p.Ala4054Thr Single submitter primary ciliary dyskinesia
- p.Ala4126Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala4189Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala4205Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala4388Val Single submitter primary ciliary dyskinesia
- p.Ala4408Asp Single submitter primary ciliary dyskinesia ⚠
- p.Ala4442Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala4442Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala4448Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala4508_Gly4509insValLeuAla Single submitter primary ciliary dyskinesia 7
- p.Ala4511Thr Single submitter primary ciliary dyskinesia
- p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla Single submitter primary ciliary dyskinesia
- p.Ala50Ser Single submitter ⚠
- p.Ala57Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala7_Arg8insGlnValAlaAla Single submitter primary ciliary dyskinesia
- p.Ala726Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala746Val Single submitter primary ciliary dyskinesia 7
- p.Ala791Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala818Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg1182Pro Single submitter primary ciliary dyskinesia
- p.Arg1361Thr Single submitter primary ciliary dyskinesia
- p.Arg1406Ser Single submitter primary ciliary dyskinesia
- p.Arg1439Ile Single submitter primary ciliary dyskinesia ⚠
- p.Arg1541Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg1557Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg1557Leu Single submitter primary ciliary dyskinesia
- p.Arg1606Ser Single submitter primary ciliary dyskinesia
- p.Arg1834Gly Single submitter primary ciliary dyskinesia 7
- p.Arg1865Leu Single submitter primary ciliary dyskinesia
- p.Arg1970Lys Single submitter primary ciliary dyskinesia ⚠