DNAH7 — 783 ClinVar variants
All ClinVar germline DNAH7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 415 flagged for review →
3 Pathogenic · 13 Likely pathogenic · 10 Conflicting · 51 Benign · 2 Benign/Likely benign · 70 Likely benign · 634 Uncertain significance
Full DNAH7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 415
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAH7 p.Met2164Ile
Likely pathogenic
Single submitter
ciliary dyskinesia, primary, 50
-
DNAH7 p.Gly2737Ser
Pathogenic
No assertion criteria
Abdominal situs inversus
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 357
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 357
- DNAH7 p.Arg1884Gln Uncertain significance Multiple submitters
-
DNAH7 p.Asn2116Ser
Uncertain significance
Multiple submitters
ciliary dyskinesia, primary, 50
- DNAH7 p.Asp1219Gly Uncertain significance Multiple submitters
- DNAH7 p.Ile1203Met Uncertain significance Multiple submitters
- DNAH7 p.Leu1715Met Uncertain significance Multiple submitters
- DNAH7 p.Met180Val Uncertain significance Multiple submitters
- DNAH7 p.Ala1377Ser Uncertain significance Single submitter
- DNAH7 p.Ala142Ser Uncertain significance Single submitter
- DNAH7 p.Ala1571Pro Uncertain significance Single submitter
- DNAH7 p.Ala1677Ser Uncertain significance Single submitter
- DNAH7 p.Ala2287Thr Uncertain significance Single submitter
- DNAH7 p.Ala2388Val Uncertain significance Single submitter
- DNAH7 p.Ala2456Ser Uncertain significance Single submitter
- DNAH7 p.Ala273Gly Uncertain significance Single submitter
- DNAH7 p.Ala273Ser Uncertain significance Single submitter
- DNAH7 p.Ala2836Thr Uncertain significance Single submitter
- DNAH7 p.Ala2846Ser Uncertain significance Single submitter
- DNAH7 p.Ala3007Val Uncertain significance Single submitter
- DNAH7 p.Ala3296Gly Uncertain significance Single submitter
- DNAH7 p.Ala3478Ser Uncertain significance Single submitter
- DNAH7 p.Ala3753Thr Uncertain significance Single submitter
- DNAH7 p.Ala3768Pro Uncertain significance Single submitter
- DNAH7 p.Ala3768Thr Uncertain significance Single submitter
- DNAH7 p.Ala486Val Uncertain significance Single submitter
- DNAH7 p.Ala637Val Uncertain significance Single submitter
- DNAH7 p.Ala733Glu Uncertain significance Single submitter
- DNAH7 p.Ala894Thr Uncertain significance Single submitter
- DNAH7 p.Ala894Val Uncertain significance Single submitter
- DNAH7 p.Arg1065Cys Uncertain significance Single submitter
- DNAH7 p.Arg1289Gln Uncertain significance Single submitter
- DNAH7 p.Arg1814Gln Uncertain significance Single submitter
- DNAH7 p.Arg1839Gln Uncertain significance Single submitter
- DNAH7 p.Arg2181Cys Uncertain significance Single submitter
- DNAH7 p.Arg2181His Uncertain significance Single submitter
- DNAH7 p.Arg2219Cys Uncertain significance Single submitter
- DNAH7 p.Arg2442Cys Uncertain significance Single submitter
- DNAH7 p.Arg246His Uncertain significance Single submitter
- DNAH7 p.Arg2741Lys Uncertain significance Single submitter
- DNAH7 p.Arg293His Uncertain significance Single submitter
- DNAH7 p.Arg3065Gln Uncertain significance Single submitter
- DNAH7 p.Arg3272Trp Uncertain significance Single submitter
- DNAH7 p.Arg3295Pro Uncertain significance Single submitter
- DNAH7 p.Arg3345Gly Uncertain significance Single submitter
- DNAH7 p.Arg3349Cys Uncertain significance Single submitter
- DNAH7 p.Arg3407Cys Uncertain significance Single submitter
- DNAH7 p.Arg3407His Uncertain significance Single submitter
- DNAH7 p.Arg3656Cys Uncertain significance Single submitter
- DNAH7 p.Arg3736His Uncertain significance Single submitter
- DNAH7 p.Arg3772Thr Uncertain significance Single submitter
- DNAH7 p.Arg3964Lys Uncertain significance Single submitter
- DNAH7 p.Arg3970Gln Uncertain significance Single submitter
- DNAH7 p.Arg577Gly Uncertain significance Single submitter
- DNAH7 p.Arg651Trp Uncertain significance Single submitter
- DNAH7 p.Arg671Gly Uncertain significance Single submitter
- DNAH7 p.Arg887Leu Uncertain significance Single submitter
- DNAH7 p.Arg89Cys Uncertain significance Single submitter
- DNAH7 p.Asn1153Lys Uncertain significance Single submitter
- DNAH7 p.Asn1173Ile Uncertain significance Single submitter
- DNAH7 p.Asn1257Tyr Uncertain significance Single submitter
- DNAH7 p.Asn1567Ser Uncertain significance Single submitter
- DNAH7 p.Asn1576Ser Uncertain significance Single submitter
- DNAH7 p.Asn1576Tyr Uncertain significance Single submitter
- DNAH7 p.Asn2017Ser Uncertain significance Single submitter
- DNAH7 p.Asn2047Ser Uncertain significance Single submitter
- DNAH7 p.Asn2239Ser Uncertain significance Single submitter
- DNAH7 p.Asn2256Asp Uncertain significance Single submitter
- DNAH7 p.Asn2855Lys Uncertain significance Single submitter
- DNAH7 p.Asn288Asp Uncertain significance Single submitter
- DNAH7 p.Asn2928Ser Uncertain significance Single submitter
- DNAH7 p.Asn410Ser Uncertain significance Single submitter
- DNAH7 p.Asn428Ser Uncertain significance Single submitter
- DNAH7 p.Asp1019Glu Uncertain significance Single submitter
- DNAH7 p.Asp1088His Uncertain significance Single submitter
- DNAH7 p.Asp1668Gly Uncertain significance Single submitter
- DNAH7 p.Asp173Gly Uncertain significance Single submitter
- DNAH7 p.Asp1863Glu Uncertain significance Single submitter
- DNAH7 p.Asp208Val Uncertain significance Single submitter
- DNAH7 p.Asp2275His Uncertain significance Single submitter
- DNAH7 p.Asp235Tyr Uncertain significance Single submitter
- DNAH7 p.Asp236Asn Uncertain significance Single submitter
- DNAH7 p.Asp2543Gly Uncertain significance Single submitter
- DNAH7 p.Asp2745Tyr Uncertain significance Single submitter
- DNAH7 p.Asp2843Glu Uncertain significance Single submitter
- DNAH7 p.Asp2947Gly Uncertain significance Single submitter
- DNAH7 p.Asp296Val Uncertain significance Single submitter
- DNAH7 p.Asp3335Glu Uncertain significance Single submitter
- DNAH7 p.Asp3676Asn Uncertain significance Single submitter
- DNAH7 p.Asp3746Gly Uncertain significance Single submitter
- DNAH7 p.Asp3952Asn Uncertain significance Single submitter
- DNAH7 p.Asp409Gly Uncertain significance Single submitter
- DNAH7 p.Asp424Val Uncertain significance Single submitter
- DNAH7 p.Asp470Gly Uncertain significance Single submitter
- DNAH7 p.Asp524Gly Uncertain significance Single submitter
- DNAH7 p.Asp711Glu Uncertain significance Single submitter
- DNAH7 p.Asp714Glu Uncertain significance Single submitter
- DNAH7 p.Asp730Tyr Uncertain significance Single submitter
- DNAH7 p.Asp913Gly Uncertain significance Single submitter
- DNAH7 p.Cys2530Ser Uncertain significance Single submitter
- DNAH7 p.Cys303Phe Uncertain significance Single submitter
- DNAH7 p.Gln1275Lys Uncertain significance Single submitter
- DNAH7 p.Gln134Lys Uncertain significance Single submitter
- DNAH7 p.Gln1892Lys Uncertain significance Single submitter
- DNAH7 p.Gln1897His Uncertain significance Single submitter
- DNAH7 p.Gln2553Glu Uncertain significance Single submitter
- DNAH7 p.Gln2849Arg Uncertain significance Single submitter
- DNAH7 p.Gln313Arg Uncertain significance Single submitter
- DNAH7 p.Gln3184Arg Uncertain significance Single submitter
- DNAH7 p.Gln3228Leu Uncertain significance Single submitter
- DNAH7 p.Gln341Glu Uncertain significance Single submitter
- DNAH7 p.Gln347Glu Uncertain significance Single submitter
- DNAH7 p.Gln537Arg Uncertain significance Single submitter
- DNAH7 p.Gln55His Uncertain significance Single submitter
- DNAH7 p.Gln723Glu Uncertain significance Single submitter
- DNAH7 p.Gln81His Uncertain significance Single submitter
- DNAH7 p.Glu1207Gly Uncertain significance Single submitter
- DNAH7 p.Glu1636Lys Uncertain significance Single submitter
- DNAH7 p.Glu186Gln Uncertain significance Single submitter
- DNAH7 p.Glu212Lys Uncertain significance Single submitter
- DNAH7 p.Glu2580Asp Uncertain significance Single submitter
- DNAH7 p.Glu3294Val Uncertain significance Single submitter
- DNAH7 p.Glu3694Ala Uncertain significance Single submitter
- DNAH7 p.Glu483Gln Uncertain significance Single submitter
- DNAH7 p.Glu4Lys Uncertain significance Single submitter
- DNAH7 p.Glu737Gln Uncertain significance Single submitter
- DNAH7 p.Glu889Gln Uncertain significance Single submitter
- DNAH7 p.Gly1287Ser Uncertain significance Single submitter
- DNAH7 p.Gly1657Arg Uncertain significance Single submitter
- DNAH7 p.Gly1894Val Uncertain significance Single submitter
- DNAH7 p.Gly2341Glu Uncertain significance Single submitter
- DNAH7 p.Gly2344Glu Uncertain significance Single submitter
- DNAH7 p.Gly2370Arg Uncertain significance Single submitter
- DNAH7 p.Gly2671Asp Uncertain significance Single submitter
- DNAH7 p.Gly2919Arg Uncertain significance Single submitter
- DNAH7 p.Gly3687Ser Uncertain significance Single submitter
- DNAH7 p.Gly4015Ser Uncertain significance Single submitter
- DNAH7 p.Gly664Glu Uncertain significance Single submitter
- DNAH7 p.Gly747Asp Uncertain significance Single submitter
- DNAH7 p.Gly762Ser Uncertain significance Single submitter
- DNAH7 p.Gly968Val Uncertain significance Single submitter
- DNAH7 p.His118Gln Uncertain significance Single submitter
- DNAH7 p.His1321Gln Uncertain significance Single submitter
- DNAH7 p.His270Arg Uncertain significance Single submitter
- DNAH7 p.His270Gln Uncertain significance Single submitter
- DNAH7 p.His301Tyr Uncertain significance Single submitter
- DNAH7 p.His399Leu Uncertain significance Single submitter
- DNAH7 p.His98Arg Uncertain significance Single submitter
- DNAH7 p.Ile1128Thr Uncertain significance Single submitter
- DNAH7 p.Ile1258Thr Uncertain significance Single submitter
- DNAH7 p.Ile1410Lys Uncertain significance Single submitter
- DNAH7 p.Ile1428Val Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- DNAH7 p.Arg3272Gln Uncertain significance Multiple submitters
- DNAH7 p.Asp2867Tyr Uncertain significance Multiple submitters
- DNAH7 p.Met2020Thr Benign Multiple submitters
- DNAH7 p.Ala396Asp Uncertain significance Single submitter
- DNAH7 p.Ala3999Val Uncertain significance Single submitter
- DNAH7 p.Arg1788Ile Uncertain significance Single submitter
- DNAH7 p.Arg1814Trp Uncertain significance Single submitter
- DNAH7 p.Arg1957Gln Uncertain significance Single submitter
- DNAH7 p.Arg3022Thr Uncertain significance Single submitter
- DNAH7 p.Arg662Thr Uncertain significance Single submitter
- DNAH7 p.Asn1076Ser Uncertain significance Single submitter
- DNAH7 p.Asn3541Tyr Uncertain significance Single submitter
- DNAH7 p.Asp173Val Uncertain significance Single submitter
- DNAH7 p.Asp1809Ala Uncertain significance Single submitter
- DNAH7 p.Asp1825Tyr Uncertain significance Single submitter
- DNAH7 p.Asp2441Glu Uncertain significance Single submitter
- DNAH7 p.Asp2507Asn Uncertain significance Single submitter
- DNAH7 p.Asp2777Gly Uncertain significance Single submitter
- DNAH7 p.Asp3329Glu Uncertain significance Single submitter
- DNAH7 p.Asp3450His Uncertain significance Single submitter
- DNAH7 p.Gln336Arg Uncertain significance Single submitter
- DNAH7 p.Glu3127Asp Uncertain significance Single submitter
- DNAH7 p.Glu483Val Uncertain significance Single submitter
- DNAH7 p.Glu550Gly Uncertain significance Single submitter
- DNAH7 p.Gly2394Arg Uncertain significance Single submitter
- DNAH7 p.Gly2727Asp Uncertain significance Single submitter
- DNAH7 p.Gly3060Arg Uncertain significance Single submitter
- DNAH7 p.Gly342Arg Uncertain significance Single submitter
- DNAH7 p.Gly342Val Uncertain significance Single submitter
- DNAH7 p.Gly3887Ser Uncertain significance Single submitter
- DNAH7 p.His3261Arg Uncertain significance Single submitter
- DNAH7 p.Ile222Leu Uncertain significance Single submitter
- DNAH7 p.Leu63Ser Uncertain significance Single submitter
- DNAH7 p.Lys2022Asn Uncertain significance Single submitter
- DNAH7 p.Lys3446Thr Uncertain significance Single submitter
- DNAH7 p.Met320Arg Uncertain significance Single submitter
- DNAH7 p.Met3518Thr Uncertain significance Single submitter
- DNAH7 p.Met433Ile Uncertain significance Single submitter
- DNAH7 p.Met663Ile Uncertain significance Single submitter
- DNAH7 p.Phe2245Leu Uncertain significance Single submitter
- DNAH7 p.Phe3347Leu Uncertain significance Single submitter
- DNAH7 p.Phe383Ile Uncertain significance Single submitter
- DNAH7 p.Pro2776Ser Uncertain significance Single submitter
- DNAH7 p.Pro3414Arg Uncertain significance Single submitter
-
DNAH7 p.Ser3657Arg
Uncertain significance
Single submitter
ciliary dyskinesia, primary, 50
- DNAH7 p.Tyr339His Uncertain significance Single submitter
- DNAH7 p.Tyr922Cys Uncertain significance Single submitter
- DNAH7 p.Val1013Ala Uncertain significance Single submitter
- DNAH7 p.Val1738Phe Uncertain significance Single submitter
- DNAH7 p.Val335Met Uncertain significance Single submitter
-
DNAH7 p.Thr2569Ile
Benign
No assertion criteria
DNAH7-related disorder
All DNAH7 variants
Pathogenic 3
- c.4647+1G>A Single submitter ciliary dyskinesia, primary, 50
- p.Gly2737Ser No assertion criteria Abdominal situs inversus ⚠
- p.Phe3585Leu No assertion criteria Abnormal muscle tone
Likely pathogenic 13
- c.11869-2A>C Single submitter ciliary dyskinesia, primary, 50
- c.870-1G>T Single submitter ciliary dyskinesia, primary, 50
- p.Arg1437Ter Single submitter ciliary dyskinesia, primary, 50
- p.Arg2889Ter Single submitter ciliary dyskinesia, primary, 50
- p.Asn1257fs Single submitter ciliary dyskinesia, primary, 50
- p.Gln347fs Single submitter ciliary dyskinesia, primary, 50
- p.Gln530Ter Single submitter ciliary dyskinesia, primary, 50
- p.Leu2135fs Single submitter ciliary dyskinesia, primary, 50
- p.Met2164Ile Single submitter ciliary dyskinesia, primary, 50 ⚠
- p.Ser1046fs Single submitter ciliary dyskinesia, primary, 50
- p.Ser2349fs Single submitter ciliary dyskinesia, primary, 50
- p.Trp1759Ter Single submitter ciliary dyskinesia, primary, 50
- p.Trp3600Ter Single submitter ciliary dyskinesia, primary, 50
Conflicting classifications of pathogenicity 10
- p.Ala142Thr Single submitter ⚠
- p.Ala247Ser Single submitter ⚠
- p.Arg1009Ter Single submitter ciliary dyskinesia, primary, 50
- p.Arg3983Trp Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
- p.Asp1260Asn Single submitter ⚠
- p.Asp2264Tyr Single submitter
- p.Glu2243Asp Single submitter ⚠
- p.Ile2478Thr Single submitter
- p.Pro3045Arg Single submitter
- p.Thr458Ala Single submitter ⚠
Benign 51
- c.398+9T>C Multiple submitters
- c.9100+4T>C Multiple submitters
- p.Ala1162= Multiple submitters
- p.Ala2789= Multiple submitters
- p.Ala514Thr Multiple submitters
- p.Arg1486Cys Multiple submitters
- p.Arg3634Gln Multiple submitters
- p.Arg507Gln Multiple submitters
- p.Arg545Cys Multiple submitters
- p.Asn2459Lys Multiple submitters
- p.Asn3852Ser Multiple submitters
- p.Asp3329Asn Multiple submitters
- p.Glu474Lys Multiple submitters
- p.Gly2822Arg Multiple submitters
- p.Ile1020Thr Multiple submitters
- p.Ile1854Val Multiple submitters
- p.Ile425Thr Multiple submitters
- p.Leu1844= Multiple submitters
- p.Leu2918= Multiple submitters
- p.Leu3319Pro Multiple submitters
- p.Leu3430= Multiple submitters
- p.Lys675Glu Multiple submitters
- p.Lys825Glu Multiple submitters
- p.Met2020Thr Multiple submitters ⚠
- p.Pro1422Thr Multiple submitters
- p.Ser438Asn Multiple submitters
- p.Ser64Cys Multiple submitters
- p.Thr1335= Multiple submitters
- p.Thr2114Ala Multiple submitters
- p.Thr384= Multiple submitters
- p.Tyr1596Ter Multiple submitters
- p.Val2581Ile Multiple submitters
- p.Val2635= Multiple submitters
- p.Val873= Multiple submitters
- c.3472-7T>C Single submitter
- c.4549-3del Single submitter
- c.4897-8del Single submitter
- c.6117+8C>G Single submitter
- p.His187= Single submitter
- p.Lys7Ile Single submitter
- p.Met2828Thr Single submitter
- p.Phe3432= Single submitter
- p.Val1857Ile Single submitter
- p.Gln99Glu No assertion criteria DNAH7-related disorder
- p.Ile2498Thr No assertion criteria DNAH7-related disorder
- p.Ile2809Val No assertion criteria DNAH7-related disorder
- p.Ile315Val No assertion criteria DNAH7-related disorder
- p.Met879Ile No assertion criteria DNAH7-related disorder
- p.Ser1856= No assertion criteria DNAH7-related disorder
- p.Ser632Cys No assertion criteria DNAH7-related disorder
- p.Thr2569Ile No assertion criteria DNAH7-related disorder ⚠
Benign/Likely benign 2
- p.Ala3189= Multiple submitters
- p.Met380Arg Multiple submitters
Likely benign 70
- p.Arg121Ter Multiple submitters
- p.Arg2483Gln Multiple submitters
- p.Arg545His Multiple submitters
- p.Phe3566Ser Multiple submitters
- p.Ser3525Thr Multiple submitters
- p.Tyr1166Cys Multiple submitters
- p.Tyr2054Cys Multiple submitters
- p.Tyr3907Cys Multiple submitters
- p.Tyr3978Ter Multiple submitters
- c.4335+10G>A Single submitter
- c.5538+3A>G Single submitter
- c.9100+9T>C Single submitter
- p.Ala154Thr Single submitter
- p.Arg2875Ter Single submitter
- p.Arg3295Gln Single submitter
- p.Arg4014Gln Single submitter
- p.Arg89His Single submitter
- p.Asp136Gly Single submitter
- p.Asp2543Asn Single submitter
- p.Cys3426= Single submitter
- p.Gln2431= Single submitter
- p.Glu2136Lys Single submitter
- p.His2274= Single submitter
- p.Ile2531= Single submitter
- p.Ile3766Val Single submitter
- p.Lys2535Arg Single submitter
- p.Lys2577_Arg2578insTer Single submitter
- p.Met2294Val Single submitter
- p.Met950Val Single submitter
- p.Phe2549= Single submitter
- p.Pro1326= Single submitter
- p.Pro2169= Single submitter
- p.Pro3107Ser Single submitter
- p.Ser1793= Single submitter
- p.Ser3211Thr Single submitter
- p.Thr200= Single submitter
- p.Thr239Ile Single submitter
- p.Thr3307Ser Single submitter
- p.Tyr2106= Single submitter
- p.Tyr780Cys Single submitter
- p.Val3485fs Single submitter
- c.1173+4A>C No assertion criteria DNAH7-related disorder
- c.4549-5_4549-3dup No assertion criteria DNAH7-related disorder
- c.6118-10T>G No assertion criteria DNAH7-related disorder
- c.744-11_744-9del No assertion criteria DNAH7-related disorder
- c.7507-6A>T No assertion criteria DNAH7-related disorder
- c.*9C>T No assertion criteria DNAH7-related disorder
- p.Ala2388= No assertion criteria DNAH7-related disorder
- p.Ala2491= No assertion criteria DNAH7-related disorder
- p.Ala3632Thr No assertion criteria DNAH7-related disorder
- p.Arg2466Cys No assertion criteria DNAH7-related disorder
- p.Arg246Cys No assertion criteria DNAH7-related disorder
- p.Arg688= No assertion criteria DNAH7-related disorder
- p.Asn2291= No assertion criteria DNAH7-related disorder
- p.Asn2494= No assertion criteria DNAH7-related disorder
- p.Asp2663= No assertion criteria DNAH7-related disorder
- p.Gly401Val No assertion criteria DNAH7-related disorder
- p.His3491= No assertion criteria DNAH7-related disorder
- p.Ile614Val No assertion criteria DNAH7-related disorder
- p.Ile640= No assertion criteria DNAH7-related disorder
- p.Leu2492= No assertion criteria DNAH7-related disorder
- p.Leu2950Phe No assertion criteria DNAH7-related disorder
- p.Leu357= No assertion criteria DNAH7-related disorder
- p.Met3957Ile No assertion criteria DNAH7-related disorder
- p.Met950Thr No assertion criteria DNAH7-related disorder
- p.Pro2490= No assertion criteria DNAH7-related disorder
- p.Pro3563= No assertion criteria DNAH7-related disorder
- p.Thr287= No assertion criteria DNAH7-related disorder
- p.Val2493= No assertion criteria DNAH7-related disorder
- p.Val617Met No assertion criteria DNAH7-related disorder
Uncertain significance 634
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg1884Gln Multiple submitters ⚠
- p.Arg3272Gln Multiple submitters ⚠
- p.Asn2116Ser Multiple submitters ciliary dyskinesia, primary, 50 ⚠
- p.Asp1219Gly Multiple submitters ⚠
- p.Asp1787Gly Multiple submitters
- p.Asp2867Tyr Multiple submitters ⚠
- p.Ile1203Met Multiple submitters ⚠
- p.Leu1715Met Multiple submitters ⚠
- p.Lys220Glu Multiple submitters
- p.Met180Val Multiple submitters ⚠
- p.Phe1548Leu Multiple submitters
- p.Pro3124Leu Multiple submitters
- p.Ser1680Phe Multiple submitters
- p.Tyr214Cys Multiple submitters
- c.11434-1G>A Single submitter
- c.1173+1G>A Single submitter
- c.142-3T>C Single submitter
- c.1627-11_1630del Single submitter
- c.5229+3A>G Single submitter
- p.Ala1104Ser Single submitter
- p.Ala1377Ser Single submitter ⚠
- p.Ala142Ser Single submitter ⚠
- p.Ala1459Asp Single submitter
- p.Ala1571Pro Single submitter ⚠
- p.Ala1677Ser Single submitter ⚠
- p.Ala2008Thr Single submitter
- p.Ala2287Thr Single submitter ⚠
- p.Ala2388Val Single submitter ⚠
- p.Ala2456Ser Single submitter ⚠
- p.Ala2646Thr Single submitter
- p.Ala2651Thr Single submitter
- p.Ala2682Thr Single submitter
- p.Ala273Gly Single submitter ⚠
- p.Ala273Ser Single submitter ⚠
- p.Ala2807Thr Single submitter
- p.Ala2836Thr Single submitter ⚠
- p.Ala2846Ser Single submitter ⚠
- p.Ala3007Val Single submitter ⚠
- p.Ala3296Gly Single submitter ⚠
- p.Ala3448Thr Single submitter
- p.Ala3478Ser Single submitter ⚠
- p.Ala3587Gly Single submitter
- p.Ala3753Thr Single submitter ⚠
- p.Ala3768Pro Single submitter ⚠
- p.Ala3768Thr Single submitter ⚠
- p.Ala396Asp Single submitter ⚠
- p.Ala3999Val Single submitter ⚠
- p.Ala486Val Single submitter ⚠
- p.Ala637Val Single submitter ⚠
- p.Ala722fs Single submitter
- p.Ala733Glu Single submitter ⚠
- p.Ala894Thr Single submitter ⚠
- p.Ala894Val Single submitter ⚠
- p.Ala904Val Single submitter
- p.Arg1018Ser Single submitter
- p.Arg1018Thr Single submitter
- p.Arg1065Cys Single submitter ⚠
- p.Arg1225His Single submitter
- p.Arg1247Gly Single submitter
- p.Arg1289Gln Single submitter ⚠
- p.Arg1449Trp Single submitter
- p.Arg1486His Single submitter
- p.Arg1620Cys Single submitter
- p.Arg1788Ile Single submitter ⚠
- p.Arg1814Gln Single submitter ⚠
- p.Arg1814Trp Single submitter ⚠
- p.Arg1839Gln Single submitter ⚠
- p.Arg1839Ter Single submitter
- p.Arg1957Gln Single submitter ⚠
- p.Arg2051Trp Single submitter
- p.Arg2099Gln Single submitter
- p.Arg2108Gln Single submitter
- p.Arg2181Cys Single submitter ⚠
- p.Arg2181His Single submitter ⚠
- p.Arg2206His Single submitter
- p.Arg2219Cys Single submitter ⚠
- p.Arg2219His Single submitter
- p.Arg231Ter Single submitter primary ciliary dyskinesia 3
- p.Arg2347Met Single submitter
- p.Arg2442Cys Single submitter ⚠
- p.Arg2466His Single submitter
- p.Arg246His Single submitter ⚠
- p.Arg2485His Single submitter
- p.Arg2741Lys Single submitter ⚠
- p.Arg293His Single submitter ⚠
- p.Arg3022Thr Single submitter ⚠
- p.Arg3065Gln Single submitter ⚠
- p.Arg3065Trp Single submitter
- p.Arg3078Cys Single submitter
- p.Arg3078Gly Single submitter
- p.Arg3078His Single submitter
- p.Arg3200Cys Single submitter
- p.Arg3204Cys Single submitter
- p.Arg3272Trp Single submitter ⚠
- p.Arg3295Pro Single submitter ⚠
- p.Arg3345Gly Single submitter ⚠
- p.Arg3349Cys Single submitter ⚠
- p.Arg3407Cys Single submitter ⚠
- p.Arg3407His Single submitter ⚠
- p.Arg3517Gln Single submitter
- p.Arg3548Trp Single submitter
- p.Arg3553Gly Single submitter
- p.Arg3593Trp Single submitter
- p.Arg3652Gly Single submitter
- p.Arg3652Trp Single submitter
- p.Arg3656Cys Single submitter ⚠
- p.Arg3736His Single submitter ⚠
- p.Arg3772Thr Single submitter ⚠
- p.Arg3791Gln Single submitter
- p.Arg3964Lys Single submitter ⚠
- p.Arg3970Gln Single submitter ⚠
- p.Arg577Gly Single submitter ⚠
- p.Arg651Trp Single submitter ⚠
- p.Arg662Thr Single submitter ⚠
- p.Arg671Gly Single submitter ⚠
- p.Arg688Trp Single submitter
- p.Arg756Cys Single submitter
- p.Arg756His Single submitter
- p.Arg850His Single submitter
- p.Arg887Leu Single submitter ⚠
- p.Arg89Cys Single submitter ⚠
- p.Asn1047Asp Single submitter
- p.Asn1076Asp Single submitter
- p.Asn1076Ser Single submitter ⚠
- p.Asn1153Lys Single submitter ⚠
- p.Asn1173Ile Single submitter ⚠
- p.Asn1257Tyr Single submitter ⚠
- p.Asn1567Ser Single submitter ⚠
- p.Asn1576Ser Single submitter ⚠
- p.Asn1576Tyr Single submitter ⚠
- p.Asn2017Ser Single submitter ⚠
- p.Asn2047Ser Single submitter ⚠
- p.Asn2239Ser Single submitter ⚠
- p.Asn2256Asp Single submitter ⚠
- p.Asn2423Ser Single submitter
- p.Asn2759Ser Single submitter
- p.Asn2855Lys Single submitter ⚠
- p.Asn288Asp Single submitter ⚠
- p.Asn2928Ser Single submitter ⚠
- p.Asn3008Ser Single submitter
- p.Asn3541Tyr Single submitter ⚠
- p.Asn3713Lys Single submitter
- p.Asn3713Ser Single submitter
- p.Asn410Ser Single submitter ⚠
- p.Asn428Ser Single submitter ⚠
- p.Asp1019Glu Single submitter ⚠
- p.Asp1088His Single submitter ⚠
- p.Asp1243Asn Single submitter
- p.Asp1243Tyr Single submitter
- p.Asp1248Val Single submitter
- p.Asp1308Gly Single submitter
- p.Asp1668Gly Single submitter ⚠
- p.Asp173Gly Single submitter ⚠
- p.Asp173Val Single submitter ⚠
- p.Asp1809Ala Single submitter ⚠
- p.Asp1825Tyr Single submitter ⚠
- p.Asp1863Glu Single submitter ⚠
- p.Asp208Val Single submitter ⚠
- p.Asp213Gly Single submitter
- p.Asp2275His Single submitter ⚠
- p.Asp235Tyr Single submitter ⚠
- p.Asp236Asn Single submitter ⚠
- p.Asp2441Glu Single submitter ⚠
- p.Asp2451His Single submitter
- p.Asp2451Val Single submitter
- p.Asp2507Asn Single submitter ⚠
- p.Asp2543Gly Single submitter ⚠
- p.Asp2745Tyr Single submitter ⚠
- p.Asp2777Gly Single submitter ⚠
- p.Asp2843Glu Single submitter ⚠
- p.Asp2861Val Single submitter
- p.Asp2947Gly Single submitter ⚠
- p.Asp296Val Single submitter ⚠
- p.Asp3165Glu Single submitter
- p.Asp3329Glu Single submitter ⚠
- p.Asp3335Glu Single submitter ⚠
- p.Asp3450His Single submitter ⚠
- p.Asp3676Asn Single submitter ⚠
- p.Asp3746Gly Single submitter ⚠
- p.Asp3952Asn Single submitter ⚠
- p.Asp3952His Single submitter
- p.Asp409Gly Single submitter ⚠
- p.Asp424Val Single submitter ⚠
- p.Asp470Gly Single submitter ⚠
- p.Asp524Gly Single submitter ⚠
- p.Asp711Glu Single submitter ⚠
- p.Asp714Glu Single submitter ⚠
- p.Asp730Tyr Single submitter ⚠
- p.Asp913Gly Single submitter ⚠
- p.Cys1310Ser Single submitter
- p.Cys1469Arg Single submitter
- p.Cys2090Tyr Single submitter
- p.Cys2530Ser Single submitter ⚠
- p.Cys303Phe Single submitter ⚠
- p.Cys3427Trp Single submitter
- p.Gln1093Lys Single submitter
- p.Gln1139Arg Single submitter
- p.Gln1275Lys Single submitter ⚠
- p.Gln134Lys Single submitter ⚠
- p.Gln1491Arg Single submitter
- p.Gln1491His Single submitter
- p.Gln1778Arg Single submitter
- p.Gln1892Lys Single submitter ⚠
- p.Gln1897His Single submitter ⚠
- p.Gln2348fs Single submitter ciliary dyskinesia, primary, 50
- p.Gln2553Glu Single submitter ⚠
- p.Gln2601Leu Single submitter
- p.Gln2849Arg Single submitter ⚠
- p.Gln2927Arg Single submitter
- p.Gln3029His Single submitter
- p.Gln313Arg Single submitter ⚠
- p.Gln3184Arg Single submitter ⚠
- p.Gln3228Leu Single submitter ⚠
- p.Gln3228Lys Single submitter
- p.Gln336Arg Single submitter ⚠
- p.Gln341Glu Single submitter ⚠
- p.Gln3465Glu Single submitter
- p.Gln3467Pro Single submitter
- p.Gln347Glu Single submitter ⚠
- p.Gln537Arg Single submitter ⚠
- p.Gln55His Single submitter ⚠
- p.Gln723Glu Single submitter ⚠
- p.Gln81His Single submitter ⚠
- p.Glu1051Lys Single submitter
- p.Glu1146Lys Single submitter
- p.Glu1207Gly Single submitter ⚠
- p.Glu1293Asp Single submitter
- p.Glu1636Lys Single submitter ⚠
- p.Glu186Gln Single submitter ⚠
- p.Glu209Ala Single submitter
- p.Glu212Lys Single submitter ⚠
- p.Glu2580Asp Single submitter ⚠
- p.Glu3127Asp Single submitter ⚠
- p.Glu3294Val Single submitter ⚠
- p.Glu3626= Single submitter DNAH7-related disorder
- p.Glu3694Ala Single submitter ⚠
- p.Glu483Gln Single submitter ⚠
- p.Glu483Val Single submitter ⚠
- p.Glu4Lys Single submitter ⚠
- p.Glu550Gly Single submitter ⚠
- p.Glu705Ter Single submitter
- p.Glu737Gln Single submitter ⚠
- p.Glu889Gln Single submitter ⚠
- p.Gly1007Asp Single submitter
- p.Gly1138Val Single submitter
- p.Gly1202Arg Single submitter
- p.Gly1287Ser Single submitter ⚠
- p.Gly1657Arg Single submitter ⚠
- p.Gly1894Val Single submitter ⚠
- p.Gly2189Val Single submitter
- p.Gly2341Glu Single submitter ⚠
- p.Gly2344Glu Single submitter ⚠
- p.Gly2370Arg Single submitter ⚠
- p.Gly2394Arg Single submitter ⚠
- p.Gly2671Asp Single submitter ⚠
- p.Gly2727Asp Single submitter ⚠
- p.Gly2919Arg Single submitter ⚠
- p.Gly2955Glu Single submitter
- p.Gly3060Arg Single submitter ⚠
- p.Gly3311Glu Single submitter
- p.Gly3406Val Single submitter
- p.Gly342Arg Single submitter ⚠
- p.Gly342Val Single submitter ⚠
- p.Gly3437Ala Single submitter
- p.Gly3466Val Single submitter
- p.Gly3468Trp Single submitter
- p.Gly3546Ser Single submitter
- p.Gly3687Ser Single submitter ⚠
- p.Gly3887Asp Single submitter
- p.Gly3887Ser Single submitter ⚠
- p.Gly4015Ser Single submitter ⚠
- p.Gly664Glu Single submitter ⚠
- p.Gly747Asp Single submitter ⚠
- p.Gly762Ser Single submitter ⚠
- p.Gly801Arg Single submitter
- p.Gly926Arg Single submitter
- p.Gly952Ala Single submitter
- p.Gly952Arg Single submitter
- p.Gly968Val Single submitter ⚠
- p.His118Gln Single submitter ⚠
- p.His1321Gln Single submitter ⚠
- p.His1664Arg Single submitter
- p.His270Arg Single submitter ⚠
- p.His270Gln Single submitter ⚠
- p.His301Tyr Single submitter ⚠
- p.His3261Arg Single submitter ⚠
- p.His399Leu Single submitter ⚠
- p.His98Arg Single submitter ⚠
- p.Ile1128Thr Single submitter ⚠
- p.Ile1258Thr Single submitter ⚠
- p.Ile1284Ser Single submitter
- p.Ile1410Lys Single submitter ⚠
- p.Ile1428Val Single submitter ⚠
- p.Ile1481Thr Single submitter
- p.Ile1592Thr Single submitter
- p.Ile1700Thr Single submitter ⚠
- p.Ile1730Thr Single submitter ⚠
- p.Ile1730Val Single submitter ⚠
- p.Ile1777Phe Single submitter ⚠
- p.Ile1777Val Single submitter ⚠