DNAH8 — 2693 ClinVar variants
All ClinVar germline DNAH8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 695 flagged for review →
110 Pathogenic · 6 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 38 Conflicting · 361 Benign · 14 Benign/Likely benign · 923 Likely benign · 1201 Uncertain significance
Full DNAH8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 695
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAH8 p.Lys2230Arg
Pathogenic
No assertion criteria
spermatogenic failure 46
Predictors agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAH8 p.Ala246Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ala256Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ala550Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Arg242His
Conflicting
Single submitter
spermatogenic failure 46
-
DNAH8 p.Arg2449Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Asn3215Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Gly4612Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.His2666Tyr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ile1035Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ile1849Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ile278Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ile2918Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ile3093Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Leu4034Phe
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Met3192Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Met4635Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Phe3546Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ser2970Phe
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Thr3562Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Thr4608Met
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 593
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 593
-
DNAH8 p.Ala1180Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala1244Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala2361Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala263Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala291Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala291Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala3361Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala3823Val
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Ala4059Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala4094Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala473Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala788Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg1014Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg1072Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg1126His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg1302Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg1450Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg2173Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg2592Trp
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Arg2957Cys
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Arg2957His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg311Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg311Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg3123Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg3143Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg320Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg3564Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg3837Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg398Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg4018His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg4124Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg4219Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg699His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg807Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn1305Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn1833Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn2375His
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Asn2527Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn336Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn3483Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn3558Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn3807Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn4139Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn4392Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asn4516Asp
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Asn651Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp1043Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp1043Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp1236His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp1616Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp1960Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp2258Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp2290Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp244Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp4206Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp540Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp720Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Cys1618Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gln2145Arg
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Gln297Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gln3280Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gln801Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Glu1371Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Glu1584Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Glu2260Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Glu3702Asp
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Glu3955Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Glu4108Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Glu561Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Glu587Gln
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Gly1005Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
- DNAH8 p.Gly1020Glu Uncertain significance Multiple submitters
-
DNAH8 p.Gly318Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gly3526Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gly3726Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gly3762Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gly812Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.His1923Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.His1990Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.His2311Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.His716Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.His935Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile1097Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile1319Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile1515Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile1759Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile1949Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile2662Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile2742Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile2890Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile304Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile3455Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile3920Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile4064Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile4199Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile686Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile731Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile994Leu
Uncertain significance
Multiple submitters
spermatogenic failure 46
- DNAH8 p.Leu231Pro Uncertain significance Multiple submitters
-
DNAH8 p.Leu2785Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Leu3009Met
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Leu4536Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Leu4620His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Lys339Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Lys3840Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met1298Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met1574Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met2198Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met219Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met2572Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met3648Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met3802Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met3981Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met399Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Phe1800Tyr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Phe3910Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Pro1284Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Pro228Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Pro2948Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Pro3728Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Pro4361Leu
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Pro4673Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Pro687Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Pro762Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ser1993Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ser4609Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ser717Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ser851Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr1131Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr1488Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr1659Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr2165Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr3017Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr331Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr3951Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr3991Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr4154Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr4201Ala
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Thr4213Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr4552Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Tyr222Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Tyr3909Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Tyr866Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Tyr999Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Val1710Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Val1848Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Val2232Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Val2329Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Val3460Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Val3800Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
Predictors split 81
The independent predictors disagree with each other — read with care.
- DNAH8 p.Ala2685Pro Uncertain significance Multiple submitters
-
DNAH8 p.Ala3560Thr
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala987Asp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg1072Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg1537Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg3517Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg3564Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Arg452Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Asp1830Glu
Benign
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gln2183Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Gly4428Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ile1100Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Leu1873Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Leu940Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Lys1411Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Met1355Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Phe4652Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ser2725Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Thr3606Met
Uncertain significance
Multiple submitters
spermatogenic failure 46
-
DNAH8 p.Val2219Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Val2435Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAH8 p.Ala263Glu
Likely benign
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Arg1072Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Arg1328Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Arg1369Ser Uncertain significance Single submitter
-
DNAH8 p.Arg3179His
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Arg3283Cys Uncertain significance Single submitter
- DNAH8 p.Arg3283His Uncertain significance Single submitter
-
DNAH8 p.Arg3904Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Arg4240His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Arg4630Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Cys1052Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Cys4313Arg Uncertain significance Single submitter
- DNAH8 p.Cys932Tyr Uncertain significance Single submitter
- DNAH8 p.Gln4307Lys Uncertain significance Single submitter
-
DNAH8 p.Glu1514Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Glu1514Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Glu1660Lys Uncertain significance Single submitter
-
DNAH8 p.Glu2141Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Glu2894Lys Uncertain significance Single submitter
-
DNAH8 p.Glu4435Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Gly1192Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Gly2267Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Gly266Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Gly3173Ser Uncertain significance Single submitter
- DNAH8 p.Gly3579Glu Uncertain significance Single submitter
-
DNAH8 p.Gly4632Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.His1196Arg Uncertain significance Single submitter
-
DNAH8 p.His4585Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Ile1453Thr Uncertain significance Single submitter
-
DNAH8 p.Leu1206Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Leu1221Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Leu1392Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Leu965Pro Uncertain significance Single submitter
- DNAH8 p.Lys1079Glu Uncertain significance Single submitter
-
DNAH8 p.Lys1187Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Lys1201Asn Uncertain significance Single submitter
-
DNAH8 p.Lys1391Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Lys1572Asn Uncertain significance Single submitter
- DNAH8 p.Met1506Ile Uncertain significance Single submitter
-
DNAH8 p.Met2682Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Met4133Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Met661Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Met962Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Phe1590Leu Uncertain significance Single submitter
-
DNAH8 p.Phe258Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Phe752Leu Uncertain significance Single submitter
-
DNAH8 p.Pro875Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ser1135Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ser1209Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Ser4656Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Ser671Phe Uncertain significance Single submitter
- DNAH8 p.Ser903Pro Uncertain significance Single submitter
-
DNAH8 p.Ser981Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Thr2617Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Thr3690Pro Uncertain significance Single submitter
-
DNAH8 p.Tyr1190Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Tyr3152Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAH8 p.Tyr3611Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAH8 p.Val1055Phe Uncertain significance Single submitter
- DNAH8 p.Val1203Ala Uncertain significance Single submitter
All DNAH8 variants
Pathogenic 110
- p.Arg2878Ter Multiple submitters inherited obesity
- c.2395+1dup Single submitter primary ciliary dyskinesia
- p.Ala184fs Single submitter primary ciliary dyskinesia
- p.Ala2943fs Single submitter primary ciliary dyskinesia
- p.Ala3537fs Single submitter primary ciliary dyskinesia
- p.Arg1302Ter Single submitter primary ciliary dyskinesia
- p.Arg1751Ter Single submitter primary ciliary dyskinesia
- p.Arg1794Ter Single submitter primary ciliary dyskinesia
- p.Arg2760Ter Single submitter primary ciliary dyskinesia
- p.Arg3024Ter Single submitter primary ciliary dyskinesia
- p.Arg3027Ter Single submitter primary ciliary dyskinesia
- p.Arg3177fs Single submitter primary ciliary dyskinesia
- p.Arg3250Ter Single submitter primary ciliary dyskinesia
- p.Arg3727Ter Single submitter primary ciliary dyskinesia
- p.Arg3868Ter Single submitter primary ciliary dyskinesia
- p.Arg4280Ter Single submitter primary ciliary dyskinesia
- p.Arg91Ter Single submitter primary ciliary dyskinesia
- p.Asn1690fs Single submitter primary ciliary dyskinesia
- p.Asn3032fs Single submitter primary ciliary dyskinesia
- p.Asn3972fs Single submitter primary ciliary dyskinesia
- p.Asn4251fs Single submitter spermatogenic failure 46
- p.Asn619fs Single submitter primary ciliary dyskinesia
- p.Asp2660fs Single submitter primary ciliary dyskinesia
- p.Asp2879fs Single submitter primary ciliary dyskinesia
- p.Asp2985delinsPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter primary ciliary dyskinesia
- p.Asp3763fs Single submitter primary ciliary dyskinesia
- p.Cys3427fs Single submitter primary ciliary dyskinesia
- p.Cys4313Ter Single submitter primary ciliary dyskinesia
- p.Gln1062Ter Single submitter primary ciliary dyskinesia
- p.Gln1400Ter Single submitter primary ciliary dyskinesia
- p.Gln1496Ter Single submitter primary ciliary dyskinesia
- p.Gln1879Ter Single submitter primary ciliary dyskinesia
- p.Gln2227Ter Single submitter primary ciliary dyskinesia
- p.Gln2251Ter Single submitter primary ciliary dyskinesia
- p.Gln3923fs Single submitter primary ciliary dyskinesia
- p.Gln4407Ter Single submitter primary ciliary dyskinesia
- p.Gln509fs Single submitter primary ciliary dyskinesia
- p.Gln795Ter Single submitter primary ciliary dyskinesia
- p.Gln801fs Single submitter primary ciliary dyskinesia
- p.Glu1012fs Single submitter primary ciliary dyskinesia
- p.Glu1047Ter Single submitter primary ciliary dyskinesia
- p.Glu1263Ter Single submitter primary ciliary dyskinesia
- p.Glu1528fs Single submitter primary ciliary dyskinesia
- p.Glu1636Ter Single submitter primary ciliary dyskinesia
- p.Glu1669Ter Single submitter primary ciliary dyskinesia
- p.Glu2028fs Single submitter primary ciliary dyskinesia
- p.Glu2364fs Single submitter primary ciliary dyskinesia
- p.Glu2466Ter Single submitter primary ciliary dyskinesia
- p.Glu2921Ter Single submitter primary ciliary dyskinesia
- p.Glu3102Ter Single submitter primary ciliary dyskinesia
- p.Glu3272fs Single submitter primary ciliary dyskinesia
- p.Glu3841Ter Single submitter primary ciliary dyskinesia
- p.Glu4435Ter Single submitter primary ciliary dyskinesia
- p.Glu565fs Single submitter primary ciliary dyskinesia
- p.Gly896fs Single submitter primary ciliary dyskinesia
- p.His1907fs Single submitter primary ciliary dyskinesia
- p.His2321fs Single submitter primary ciliary dyskinesia
- p.His695fs Single submitter primary ciliary dyskinesia
- p.Ile3099fs Single submitter primary ciliary dyskinesia
- p.Ile3350fs Single submitter primary ciliary dyskinesia
- p.Ile3582fs Single submitter primary ciliary dyskinesia
- p.Ile375fs Single submitter primary ciliary dyskinesia
- p.Ile3864fs Single submitter primary ciliary dyskinesia
- p.Ile693fs Single submitter primary ciliary dyskinesia
- p.Leu1915fs Single submitter primary ciliary dyskinesia
- p.Leu2287Ter Single submitter primary ciliary dyskinesia
- p.Leu2598fs Single submitter primary ciliary dyskinesia
- p.Leu3435fs Single submitter primary ciliary dyskinesia
- p.Leu3437_Met3438insTer Single submitter primary ciliary dyskinesia
- p.Leu669fs Single submitter primary ciliary dyskinesia
- p.Leu900Ter Single submitter primary ciliary dyskinesia
- p.Lys1171Ter Single submitter primary ciliary dyskinesia
- p.Lys3100fs Single submitter primary ciliary dyskinesia
- p.Lys3300Ter Single submitter primary ciliary dyskinesia
- p.Lys3697fs Single submitter primary ciliary dyskinesia
- p.Lys830fs Single submitter primary ciliary dyskinesia
- p.Met4465fs Single submitter primary ciliary dyskinesia
- p.Phe1083fs Single submitter primary ciliary dyskinesia
- p.Pro2376_Lys2377insTer Single submitter primary ciliary dyskinesia
- p.Pro2708_Met2709insTer Single submitter primary ciliary dyskinesia
- p.Pro2792fs Single submitter primary ciliary dyskinesia
- p.Ser1011fs Single submitter primary ciliary dyskinesia
- p.Ser2108Ter Single submitter primary ciliary dyskinesia
- p.Ser2259fs Single submitter primary ciliary dyskinesia
- p.Ser2455fs Single submitter primary ciliary dyskinesia
- p.Ser2607Ter Single submitter primary ciliary dyskinesia
- p.Ser2703Ter Single submitter primary ciliary dyskinesia
- p.Ser2897Ter Single submitter primary ciliary dyskinesia
- p.Ser567_Phe568insTer Single submitter primary ciliary dyskinesia
- p.Ser567fs Single submitter primary ciliary dyskinesia
- p.Thr2042fs Single submitter primary ciliary dyskinesia
- p.Thr3991fs Single submitter primary ciliary dyskinesia
- p.Trp1921Ter Single submitter primary ciliary dyskinesia
- p.Trp2404fs Single submitter primary ciliary dyskinesia
- p.Trp2622Ter Single submitter primary ciliary dyskinesia
- p.Trp3445Ter Single submitter primary ciliary dyskinesia
- p.Trp4321Ter Single submitter primary ciliary dyskinesia
- p.Trp973Ter Single submitter primary ciliary dyskinesia
- p.Tyr1031Ter Single submitter primary ciliary dyskinesia
- p.Tyr2221delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer Single submitter primary ciliary dyskinesia
- p.Tyr2612fs Single submitter primary ciliary dyskinesia
- p.Tyr3959Ter Single submitter primary ciliary dyskinesia
- p.Tyr4292Ter Single submitter primary ciliary dyskinesia
- p.Tyr742fs Single submitter primary ciliary dyskinesia
- p.Val1193fs Single submitter primary ciliary dyskinesia
- p.Val2681fs Single submitter primary ciliary dyskinesia
- p.Val2694fs Single submitter primary ciliary dyskinesia
- p.Val984fs Single submitter primary ciliary dyskinesia
- p.Lys127fs No assertion criteria spermatogenic failure 46
- p.Lys2230Arg No assertion criteria spermatogenic failure 46 ⚠
Pathogenic/Likely pathogenic 6
- p.Arg1090Ter Multiple submitters primary ciliary dyskinesia
- p.Arg207Ter Multiple submitters primary ciliary dyskinesia
- p.Arg4166Ter Multiple submitters spermatogenic failure 46
- p.Arg4281Ter Multiple submitters primary ciliary dyskinesia
- p.Gly3905fs Multiple submitters DNAH8-related disorder
- p.Thr1162fs Multiple submitters primary ciliary dyskinesia
Likely pathogenic 40
- c.10963-1G>A Multiple submitters primary ciliary dyskinesia
- c.11563+1G>T Multiple submitters primary ciliary dyskinesia
- c.2664+2T>C Multiple submitters primary ciliary dyskinesia
- c.5734-1G>T Multiple submitters spermatogenic failure 46
- c.10309-1G>A Single submitter primary ciliary dyskinesia
- c.10663-2A>G Single submitter primary ciliary dyskinesia
- c.10791-1G>T Single submitter primary ciliary dyskinesia
- c.10791-2A>G Single submitter primary ciliary dyskinesia
- c.11563+1G>A Single submitter primary ciliary dyskinesia
- c.12007+1G>T Single submitter primary ciliary dyskinesia
- c.12249-2A>T Single submitter primary ciliary dyskinesia
- c.13054-2A>G Single submitter primary ciliary dyskinesia
- c.13214+1G>A Single submitter primary ciliary dyskinesia
- c.13714+1G>T Single submitter primary ciliary dyskinesia
- c.1408-1G>A Single submitter primary ciliary dyskinesia
- c.1516-2A>C Single submitter primary ciliary dyskinesia
- c.1962+1G>A Single submitter primary ciliary dyskinesia
- c.2139+1G>A Single submitter primary ciliary dyskinesia
- c.2665-1G>C Single submitter primary ciliary dyskinesia
- c.2901+1G>A Single submitter primary ciliary dyskinesia
- c.3150+1G>A Single submitter primary ciliary dyskinesia
- c.3333+1G>A Single submitter primary ciliary dyskinesia
- c.4188+2T>A Single submitter primary ciliary dyskinesia
- c.4467-2A>G Single submitter primary ciliary dyskinesia
- c.5363+1G>A Single submitter primary ciliary dyskinesia
- c.6131+1G>A Single submitter primary ciliary dyskinesia
- c.7480-1G>A Single submitter spermatogenic failure 46
- c.763-1G>A Single submitter primary ciliary dyskinesia
- c.8259+1G>A Single submitter primary ciliary dyskinesia
- c.8747+2T>C Single submitter primary ciliary dyskinesia
- c.9194+1G>A Single submitter primary ciliary dyskinesia
- c.9348+2T>C Single submitter primary ciliary dyskinesia
- c.9349-1G>T Single submitter primary ciliary dyskinesia
- p.Ala1123fs Single submitter spermatogenic failure 46
- p.Arg4219Ter Single submitter spermatogenic failure 46
- p.Asn121fs Single submitter DNAH8-related disorder
- p.Asp757fs Single submitter DNAH8-related disorder
- p.Gln3808Ter Single submitter spermatogenic failure 46
- p.Trp1579Ter Single submitter
- p.Val4179fs Single submitter spermatogenic failure 46
Conflicting classifications of pathogenicity 38
- c.4083+12T>C Single submitter primary ciliary dyskinesia
- c.5363+4A>T Single submitter primary ciliary dyskinesia
- c.7620+6del Single submitter primary ciliary dyskinesia
- p.Ala184Val Single submitter primary ciliary dyskinesia
- p.Ala246Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala256Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala550Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg1600Ser Single submitter primary ciliary dyskinesia
- p.Arg1737Cys Single submitter primary ciliary dyskinesia
- p.Arg242His Single submitter spermatogenic failure 46 ⚠
- p.Arg2449Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg3247Gly Single submitter primary ciliary dyskinesia
- p.Arg4583Cys Single submitter primary ciliary dyskinesia
- p.Asn3215Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asp1843Gly Single submitter primary ciliary dyskinesia
- p.Asp1843His Single submitter primary ciliary dyskinesia
- p.Gln679= Single submitter primary ciliary dyskinesia
- p.Gly4612Val Single submitter primary ciliary dyskinesia ⚠
- p.His2666Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile1035Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile1849Leu Single submitter primary ciliary dyskinesia ⚠
- p.Ile278Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile2918Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile3093Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu3719= Single submitter primary ciliary dyskinesia
- p.Leu4034Phe Single submitter primary ciliary dyskinesia ⚠
- p.Lys3428= Single submitter primary ciliary dyskinesia
- p.Met3192Val Single submitter primary ciliary dyskinesia ⚠
- p.Met4635Thr Single submitter primary ciliary dyskinesia ⚠
- p.Phe3546Ser Single submitter primary ciliary dyskinesia ⚠
- p.Phe3591Leu Single submitter primary ciliary dyskinesia
- p.Ser2970Phe Single submitter primary ciliary dyskinesia ⚠
- p.Thr3562Met Single submitter primary ciliary dyskinesia ⚠
- p.Thr3924Met Single submitter primary ciliary dyskinesia
- p.Thr4608Met Single submitter primary ciliary dyskinesia ⚠
- p.Val1803Ala Single submitter primary ciliary dyskinesia
- p.Val3237Ala Single submitter primary ciliary dyskinesia
- p.Val451Ala Single submitter primary ciliary dyskinesia
Benign 361
Showing the top 300 by review status; the full set is in the sitemap.
- c.10141-4del Multiple submitters primary ciliary dyskinesia
- c.12008-20T>C Multiple submitters primary ciliary dyskinesia
- c.12451+13A>G Multiple submitters primary ciliary dyskinesia
- c.13054-17T>C Multiple submitters primary ciliary dyskinesia
- c.13215-15C>T Multiple submitters primary ciliary dyskinesia
- c.1407+20A>G Multiple submitters primary ciliary dyskinesia
- c.1516-20T>C Multiple submitters primary ciliary dyskinesia
- c.1617+3T>G Multiple submitters primary ciliary dyskinesia
- c.1764+2T>C Multiple submitters primary ciliary dyskinesia
- c.3034+19G>A Multiple submitters primary ciliary dyskinesia
- c.3034+9T>C Multiple submitters primary ciliary dyskinesia
- c.5467-19G>A Multiple submitters primary ciliary dyskinesia
- p.Ala1847= Multiple submitters primary ciliary dyskinesia
- p.Ala2391Ser Multiple submitters primary ciliary dyskinesia
- p.Ala3315Thr Multiple submitters primary ciliary dyskinesia
- p.Ala350= Multiple submitters primary ciliary dyskinesia
- p.Ala3999= Multiple submitters primary ciliary dyskinesia
- p.Ala659Thr Multiple submitters primary ciliary dyskinesia
- p.Ala944Thr Multiple submitters primary ciliary dyskinesia
- p.Arg3123= Multiple submitters primary ciliary dyskinesia
- p.Arg3837= Multiple submitters primary ciliary dyskinesia
- p.Asn288Ser Multiple submitters primary ciliary dyskinesia
- p.Asp1830Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp2517= Multiple submitters primary ciliary dyskinesia
- p.Asp4088= Multiple submitters primary ciliary dyskinesia
- p.Asp640= Multiple submitters primary ciliary dyskinesia
- p.Glu1419Lys Multiple submitters primary ciliary dyskinesia
- p.Glu972Val Multiple submitters primary ciliary dyskinesia
- p.Gly1024Glu Multiple submitters primary ciliary dyskinesia
- p.Gly690Arg Multiple submitters primary ciliary dyskinesia
- p.Gly764= Multiple submitters primary ciliary dyskinesia
- p.His1923= Multiple submitters primary ciliary dyskinesia
- p.His3735Arg Multiple submitters primary ciliary dyskinesia
- p.Ile4488Val Multiple submitters primary ciliary dyskinesia
- p.Ile790Val Multiple submitters primary ciliary dyskinesia
- p.Leu1434= Multiple submitters primary ciliary dyskinesia
- p.Leu3926= Multiple submitters spermatogenic failure 46
- p.Leu4373= Multiple submitters primary ciliary dyskinesia
- p.Lys2523= Multiple submitters primary ciliary dyskinesia
- p.Pro1732= Multiple submitters primary ciliary dyskinesia
- p.Pro3787= Multiple submitters primary ciliary dyskinesia
- p.Ser1098= Multiple submitters primary ciliary dyskinesia
- p.Thr2661Asn Multiple submitters primary ciliary dyskinesia
- p.Thr4197= Multiple submitters primary ciliary dyskinesia
- p.Thr4323Met Multiple submitters primary ciliary dyskinesia
- p.Tyr2718= Multiple submitters primary ciliary dyskinesia
- p.Tyr517His Multiple submitters primary ciliary dyskinesia
- p.Val2560= Multiple submitters primary ciliary dyskinesia
- p.Val874Met Multiple submitters primary ciliary dyskinesia
- c.10141-297A>G Single submitter
- c.10524+206T>C Single submitter
- c.10525-11C>T Single submitter primary ciliary dyskinesia
- c.10662+20dup Single submitter primary ciliary dyskinesia
- c.10790+107T>G Single submitter
- c.10790+125A>C Single submitter
- c.10963-99G>A Single submitter
- c.11119-129T>G Single submitter
- c.11119-239C>A Single submitter
- c.11119-257T>C Single submitter
- c.11119-320G>A Single submitter
- c.1116+285A>G Single submitter
- c.1117-238del Single submitter
- c.11274+168G>A Single submitter
- c.11274+24AAAG[3] Single submitter
- c.11274+26del Single submitter
- c.11275-102G>C Single submitter
- c.11275-173T>C Single submitter
- c.11275-256G>A Single submitter
- c.11457+18G>A Single submitter primary ciliary dyskinesia
- c.11457+224_11457+225insACACACACACCC Single submitter
- c.11457+93T>A Single submitter
- c.11458-273G>A Single submitter
- c.11563+343del Single submitter
- c.11564-253T>C Single submitter
- c.11816+70A>G Single submitter
- c.11817-7G>A Single submitter primary ciliary dyskinesia
- c.12008-66A>G Single submitter
- c.12129+286C>G Single submitter
- c.12129+300G>A Single submitter
- c.12452-105del Single submitter
- c.12452-105dup Single submitter
- c.12452-107_12452-105dup Single submitter
- c.12678+13A>G Single submitter primary ciliary dyskinesia
- c.12678+22C>G Single submitter
- c.12679-188A>G Single submitter
- c.12835-205C>T Single submitter
- c.1293+297C>T Single submitter
- c.1294-211C>T Single submitter
- c.1294-270A>G Single submitter
- c.1294-66C>T Single submitter
- c.1294-6del Single submitter primary ciliary dyskinesia
- c.12951+147G>A Single submitter
- c.12951+222G>A Single submitter
- c.12951+23dup Single submitter primary ciliary dyskinesia
- c.12952-207A>G Single submitter
- c.13053+164CA[11] Single submitter
- c.13053+164CA[12] Single submitter
- c.13053+164CA[14] Single submitter
- c.13053+204G>T Single submitter
- c.13054-66T>C Single submitter
- c.13214+10T>C Single submitter primary ciliary dyskinesia
- c.13214+177C>T Single submitter
- c.13215-107dup Single submitter
- c.13215-108_13215-107dup Single submitter
- c.13215-109_13215-107dup Single submitter
- c.13215-187del Single submitter
- c.13215-221T>A Single submitter
- c.13371+103G>A Single submitter
- c.13371+286G>A Single submitter
- c.13372-15T>A Single submitter primary ciliary dyskinesia
- c.13372-45T>A Single submitter
- c.13714+156T>C Single submitter
- c.13714+223T>C Single submitter
- c.13714+46T>C Single submitter
- c.13715-137G>A Single submitter
- c.13715-205C>T Single submitter
- c.13715-8del Single submitter primary ciliary dyskinesia
- c.13836+125A>G Single submitter
- c.1407+191T>C Single submitter
- c.1407+218T>A Single submitter
- c.1407+318A>G Single submitter
- c.1407+324A>G Single submitter
- c.1407+37G>A Single submitter
- c.1408-173G>A Single submitter
- c.1408-292A>G Single submitter
- c.1408-322A>G Single submitter
- c.1408-78A>G Single submitter
- c.1515+18G>A Single submitter primary ciliary dyskinesia
- c.1515+201A>T Single submitter
- c.1515+330G>C Single submitter
- c.1516-189T>C Single submitter
- c.1516-248G>A Single submitter
- c.1516-252dup Single submitter
- c.1618-115dup Single submitter
- c.1618-238del Single submitter
- c.1764+202A>G Single submitter
- c.1765-18A>C Single submitter primary ciliary dyskinesia
- c.1765-278C>T Single submitter
- c.1962+282del Single submitter
- c.1962+282dup Single submitter
- c.1963-217T>C Single submitter
- c.1963-66C>T Single submitter
- c.1963-74A>G Single submitter
- c.2039+23A>T Single submitter
- c.2039+278G>A Single submitter
- c.2039+54A>G Single submitter
- c.2040-161C>T Single submitter
- c.2139+128G>A Single submitter
- c.2140-284T>G Single submitter
- c.2259+210C>T Single submitter
- c.2259+21del Single submitter primary ciliary dyskinesia
- c.2259+313C>T Single submitter
- c.2259+53_2259+66del Single submitter
- c.2259+62A>G Single submitter
- c.2260-238G>A Single submitter
- c.2260-40A>T Single submitter
- c.2260-4del Single submitter primary ciliary dyskinesia
- c.2260-75A>G Single submitter
- c.2395+245T>G Single submitter
- c.2396-39A>G Single submitter
- c.2583+110A>C Single submitter
- c.2583+247C>A Single submitter
- c.2583+56T>A Single submitter
- c.2583+60TA[7] Single submitter
- c.2584-201C>T Single submitter
- c.2584-304T>C Single submitter
- c.2584-68A>G Single submitter
- c.2664+144del Single submitter
- c.2664+144dup Single submitter
- c.2665-8G>A Single submitter primary ciliary dyskinesia
- c.2781+172C>T Single submitter
- c.2781+193A>G Single submitter
- c.2901+116dup Single submitter
- c.2902-261A>G Single submitter
- c.2902-330G>T Single submitter
- c.3034+184G>A Single submitter
- c.3034+301_3034+303del Single submitter
- c.3034+302_3034+303del Single submitter
- c.3034+314A>G Single submitter
- c.3034+81T>C Single submitter
- c.3035-111T>C Single submitter
- c.3035-260T>G Single submitter
- c.3035-4A>G Single submitter primary ciliary dyskinesia
- c.3035-85A>G Single submitter
- c.3150+161A>G Single submitter
- c.3150+337G>A Single submitter
- c.3151-311G>C Single submitter
- c.3151-50T>G Single submitter
- c.3257+182C>T Single submitter
- c.3257+77del Single submitter
- c.3258-147T>C Single submitter
- c.3258-205A>T Single submitter
- c.3258-81C>T Single submitter
- c.3333+129T>C Single submitter
- c.3333+26A>T Single submitter
- c.3334-118C>T Single submitter
- c.3334-67G>A Single submitter
- c.3334-81_3334-80del Single submitter
- c.3523+186C>T Single submitter
- c.3721-247G>A Single submitter
- c.3847+173A>G Single submitter
- c.3847+91C>T Single submitter
- c.3848-117G>A Single submitter
- c.3848-120C>T Single submitter
- c.3848-329A>G Single submitter
- c.3848-345T>C Single submitter
- c.4083+24_4083+25dup Single submitter primary ciliary dyskinesia
- c.4083+25del Single submitter primary ciliary dyskinesia
- c.4083+25dup Single submitter primary ciliary dyskinesia
- c.4189-143A>G Single submitter
- c.4189-171T>C Single submitter
- c.4302+336C>A Single submitter
- c.4303-14A>G Single submitter primary ciliary dyskinesia
- c.4365+19del Single submitter primary ciliary dyskinesia
- c.4366-159T>C Single submitter
- c.4467-101G>A Single submitter
- c.4604+32G>A Single submitter
- c.4846-269A>G Single submitter
- c.5045+146G>A Single submitter
- c.5045+93_5045+94insA Single submitter
- c.5200-135dup Single submitter
- c.525+113C>T Single submitter
- c.525+144C>A Single submitter
- c.525+82CAA[4] Single submitter
- c.526-292A>T Single submitter
- c.5363+168T>C Single submitter
- c.5363+170G>A Single submitter
- c.5364-252G>A Single submitter
- c.5364-319A>T Single submitter
- c.5466+40C>T Single submitter
- c.5467-15del Single submitter primary ciliary dyskinesia
- c.5571+184G>A Single submitter
- c.5571+25T>G Single submitter
- c.5572-19C>T Single submitter primary ciliary dyskinesia
- c.5572-49A>C Single submitter
- c.5733+11A>G Single submitter primary ciliary dyskinesia
- c.5733+248A>G Single submitter
- c.5733+295T>C Single submitter
- c.5958+19del Single submitter primary ciliary dyskinesia
- c.5958+19dup Single submitter primary ciliary dyskinesia
- c.610+285G>A Single submitter
- c.610+77A>G Single submitter
- c.610+82T>G Single submitter
- c.611-139_611-138insCA Single submitter
- c.611-139del Single submitter
- c.611-139dup Single submitter
- c.611-140_611-139dup Single submitter
- c.611-141_611-139dup Single submitter
- c.611-176del Single submitter
- c.611-176dup Single submitter
- c.611-235G>T Single submitter
- c.611-38G>A Single submitter
- c.611-81C>G Single submitter
- c.6131+19G>A Single submitter primary ciliary dyskinesia
- c.6131+25dup Single submitter primary ciliary dyskinesia
- c.6131+48A>T Single submitter
- c.6132-181G>A Single submitter
- c.6310+176A>G Single submitter
- c.6310+225G>A Single submitter
- c.6310+295A>G Single submitter
- c.6311-303C>T Single submitter
- c.6498+106A>G Single submitter
- c.6498+11del Single submitter primary ciliary dyskinesia
- c.6498+11dup Single submitter primary ciliary dyskinesia
- c.6498+193del Single submitter
- c.6499-192A>G Single submitter
- c.6499-251T>C Single submitter
- c.6694-291_6694-290del Single submitter
- c.6694-292_6694-290del Single submitter
- c.6694-302_6694-301insC Single submitter
- c.6829-314A>T Single submitter
- c.6990+219A>C Single submitter
- c.6991-159A>G Single submitter
- c.6991-298C>G Single submitter
- c.7237+43G>A Single submitter
- c.7479+6dup Single submitter primary ciliary dyskinesia
- c.762+138A>T Single submitter
- c.762+160G>A Single submitter
- c.762+70del Single submitter
- c.7620+15dup Single submitter primary ciliary dyskinesia
- c.7620+16del Single submitter primary ciliary dyskinesia
- c.7621-178T>C Single submitter
- c.7621-84C>T Single submitter
- c.7621-87C>T Single submitter
- c.7621-88C>T Single submitter
- c.763-275T>G Single submitter
- c.7858+264A>T Single submitter
- c.7859-110G>A Single submitter
- c.7859-216G>A Single submitter
- c.8136+73C>T Single submitter
- c.8136+76A>G Single submitter
- c.8137-67T>A Single submitter
- c.8259+12A>T Single submitter primary ciliary dyskinesia
- c.8259+6G>A Single submitter primary ciliary dyskinesia
- c.8473+18G>A Single submitter primary ciliary dyskinesia
- c.8584-30A>T Single submitter
- c.8748-9del Single submitter primary ciliary dyskinesia
- c.8940+60C>G Single submitter
- c.9194+78C>A Single submitter
- c.9195-111G>A Single submitter
Benign/Likely benign 14
- c.12526-3C>T Multiple submitters primary ciliary dyskinesia
- c.4084-4G>T Multiple submitters primary ciliary dyskinesia
- c.5364-5T>G Multiple submitters primary ciliary dyskinesia
- c.7620+15del Multiple submitters primary ciliary dyskinesia
- p.Glu1636Asp Multiple submitters spermatogenic failure 46
- p.Glu2908= Multiple submitters primary ciliary dyskinesia
- p.Ile2780Thr Multiple submitters spermatogenic failure 46
- p.Leu1461= Multiple submitters primary ciliary dyskinesia
- p.Leu3531= Multiple submitters primary ciliary dyskinesia
- p.Pro2322= Multiple submitters primary ciliary dyskinesia
- p.Ser3329= Multiple submitters primary ciliary dyskinesia
- p.Thr1467= Multiple submitters primary ciliary dyskinesia
- p.Thr4323= Multiple submitters primary ciliary dyskinesia
- p.Val4700= Multiple submitters primary ciliary dyskinesia
Likely benign 923
Showing the top 300 by review status; the full set is in the sitemap.
- c.12008-8T>C Multiple submitters primary ciliary dyskinesia
- c.12951+7G>A Multiple submitters primary ciliary dyskinesia
- c.3150+13G>A Multiple submitters primary ciliary dyskinesia
- c.4303-15T>C Multiple submitters spermatogenic failure 46
- c.5466+17T>C Multiple submitters primary ciliary dyskinesia
- c.762+8del Multiple submitters primary ciliary dyskinesia
- c.8747+4C>T Multiple submitters spermatogenic failure 46
- p.Ala2052= Multiple submitters primary ciliary dyskinesia
- p.Ala3560Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala3901Thr Multiple submitters spermatogenic failure 46
- p.Ala4241Thr Multiple submitters primary ciliary dyskinesia
- p.Ala725Gly Multiple submitters primary ciliary dyskinesia
- p.Arg2957= Multiple submitters primary ciliary dyskinesia
- p.Arg4461Cys Multiple submitters primary ciliary dyskinesia
- p.Asn727= Multiple submitters primary ciliary dyskinesia
- p.Gln3225Lys Multiple submitters primary ciliary dyskinesia
- p.Glu3657= Multiple submitters primary ciliary dyskinesia
- p.Gly2576= Multiple submitters primary ciliary dyskinesia
- p.Gly4160= Multiple submitters primary ciliary dyskinesia
- p.His487= Multiple submitters primary ciliary dyskinesia
- p.Ile2491Val Multiple submitters spermatogenic failure 46
- p.Leu3598= Multiple submitters primary ciliary dyskinesia
- p.Pro2528= Multiple submitters primary ciliary dyskinesia
- p.Pro2960= Multiple submitters primary ciliary dyskinesia
- p.Pro3728Ser Multiple submitters primary ciliary dyskinesia
- p.Pro4361= Multiple submitters primary ciliary dyskinesia
- p.Pro4673= Multiple submitters primary ciliary dyskinesia
- p.Pro4692Leu Multiple submitters primary ciliary dyskinesia
- p.Ser1889= Multiple submitters primary ciliary dyskinesia
- p.Ser2286Gly Multiple submitters primary ciliary dyskinesia
- p.Thr1504= Multiple submitters primary ciliary dyskinesia
- p.Thr3793= Multiple submitters primary ciliary dyskinesia
- p.Thr4644= Multiple submitters primary ciliary dyskinesia
- p.Val2746= Multiple submitters primary ciliary dyskinesia
- c.10140+10G>A Single submitter primary ciliary dyskinesia
- c.10140+12A>G Single submitter primary ciliary dyskinesia
- c.10140+15G>T Single submitter primary ciliary dyskinesia
- c.10140+20C>G Single submitter primary ciliary dyskinesia
- c.10140+7A>G Single submitter primary ciliary dyskinesia
- c.10141-11C>T Single submitter primary ciliary dyskinesia
- c.10141-19T>C Single submitter primary ciliary dyskinesia
- c.10308+14A>G Single submitter primary ciliary dyskinesia
- c.10308+17A>G Single submitter primary ciliary dyskinesia
- c.10309-20G>A Single submitter primary ciliary dyskinesia
- c.10309-20G>T Single submitter primary ciliary dyskinesia
- c.10524+15C>T Single submitter primary ciliary dyskinesia
- c.10525-13T>G Single submitter primary ciliary dyskinesia
- c.10525-15TCT[2] Single submitter primary ciliary dyskinesia
- c.10525-16G>A Single submitter primary ciliary dyskinesia
- c.10525-19C>T Single submitter primary ciliary dyskinesia
- c.10525-20C>A Single submitter primary ciliary dyskinesia
- c.10662+14_10662+15del Single submitter primary ciliary dyskinesia
- c.10662+8T>C Single submitter primary ciliary dyskinesia
- c.10662+9A>G Single submitter primary ciliary dyskinesia
- c.10663-12T>C Single submitter primary ciliary dyskinesia
- c.10663-13A>G Single submitter primary ciliary dyskinesia
- c.10663-18C>T Single submitter primary ciliary dyskinesia
- c.10663-6C>A Single submitter primary ciliary dyskinesia
- c.10790+13G>C Single submitter primary ciliary dyskinesia
- c.10790+16T>G Single submitter primary ciliary dyskinesia
- c.10790+4G>A Single submitter primary ciliary dyskinesia
- c.10790+8T>C Single submitter primary ciliary dyskinesia
- c.10791-5C>T Single submitter primary ciliary dyskinesia
- c.10962+11C>G Single submitter primary ciliary dyskinesia
- c.10962+19A>G Single submitter primary ciliary dyskinesia
- c.10963-17C>T Single submitter primary ciliary dyskinesia
- c.11118+20G>A Single submitter primary ciliary dyskinesia
- c.11119-12C>A Single submitter primary ciliary dyskinesia
- c.11119-19A>G Single submitter primary ciliary dyskinesia
- c.1116+14A>G Single submitter primary ciliary dyskinesia
- c.1116+9A>C Single submitter primary ciliary dyskinesia
- c.11274+10G>T Single submitter primary ciliary dyskinesia
- c.11274+11_11274+13dup Single submitter primary ciliary dyskinesia
- c.11274+11dup Single submitter primary ciliary dyskinesia
- c.11274+11T>A Single submitter primary ciliary dyskinesia
- c.11274+11T>G Single submitter primary ciliary dyskinesia
- c.11274+12A>G Single submitter primary ciliary dyskinesia
- c.11275-4G>A Single submitter primary ciliary dyskinesia
- c.11457+5TC[6] Single submitter primary ciliary dyskinesia
- c.11457+6_11457+7insCC Single submitter primary ciliary dyskinesia
- c.11458-14T>C Single submitter primary ciliary dyskinesia
- c.11458-16T>G Single submitter primary ciliary dyskinesia
- c.11563+18A>T Single submitter primary ciliary dyskinesia
- c.11564-13T>C Single submitter primary ciliary dyskinesia
- c.12007+14G>C Single submitter primary ciliary dyskinesia
- c.12008-13C>T Single submitter primary ciliary dyskinesia
- c.12008-14A>T Single submitter primary ciliary dyskinesia
- c.12008-19G>C Single submitter primary ciliary dyskinesia
- c.12008-4C>T Single submitter primary ciliary dyskinesia
- c.12129+13A>G Single submitter primary ciliary dyskinesia
- c.12129+20G>C Single submitter primary ciliary dyskinesia
- c.12130-13T>G Single submitter primary ciliary dyskinesia
- c.12130-7C>G Single submitter primary ciliary dyskinesia
- c.12248+13A>C Single submitter primary ciliary dyskinesia
- c.12248+13A>T Single submitter primary ciliary dyskinesia
- c.12248+18C>G Single submitter primary ciliary dyskinesia
- c.12248+9A>G Single submitter primary ciliary dyskinesia
- c.12249-10del Single submitter primary ciliary dyskinesia
- c.12452-12C>T Single submitter primary ciliary dyskinesia
- c.12452-9A>G Single submitter primary ciliary dyskinesia
- c.12525+10_12525+11del Single submitter primary ciliary dyskinesia
- c.12526-14A>G Single submitter primary ciliary dyskinesia
- c.12526-20G>A Single submitter primary ciliary dyskinesia
- c.12678+10dup Single submitter primary ciliary dyskinesia
- c.12678+14C>T Single submitter primary ciliary dyskinesia
- c.12678+15G>A Single submitter primary ciliary dyskinesia
- c.12678+15G>C Single submitter primary ciliary dyskinesia
- c.12678+15G>T Single submitter primary ciliary dyskinesia
- c.12678+7T>C Single submitter primary ciliary dyskinesia
- c.12679-4A>G Single submitter primary ciliary dyskinesia
- c.12834+15C>T Single submitter primary ciliary dyskinesia
- c.12834+20T>C Single submitter primary ciliary dyskinesia
- c.12834+8C>T Single submitter primary ciliary dyskinesia
- c.12835-11G>C Single submitter primary ciliary dyskinesia
- c.12835-17T>C Single submitter primary ciliary dyskinesia
- c.12835-18T>C Single submitter primary ciliary dyskinesia
- c.12835-4T>C Single submitter primary ciliary dyskinesia
- c.12835-7T>C Single submitter primary ciliary dyskinesia
- c.1293+14T>C Single submitter primary ciliary dyskinesia
- c.1293+8G>C Single submitter primary ciliary dyskinesia
- c.1294-13C>T Single submitter primary ciliary dyskinesia
- c.1294-20C>G Single submitter primary ciliary dyskinesia
- c.12951+13A>G Single submitter primary ciliary dyskinesia
- c.12951+15G>T Single submitter primary ciliary dyskinesia
- c.12951+16C>T Single submitter primary ciliary dyskinesia
- c.13053+19A>C Single submitter primary ciliary dyskinesia
- c.13053+20T>C Single submitter primary ciliary dyskinesia
- c.13053+9A>G Single submitter primary ciliary dyskinesia
- c.13054-11C>G Single submitter primary ciliary dyskinesia
- c.13054-7C>T Single submitter primary ciliary dyskinesia
- c.13214+12G>A Single submitter primary ciliary dyskinesia
- c.13215-12T>C Single submitter primary ciliary dyskinesia
- c.13215-20C>T Single submitter primary ciliary dyskinesia
- c.13215-4C>T Single submitter primary ciliary dyskinesia
- c.13371+10G>C Single submitter primary ciliary dyskinesia
- c.13371+10G>T Single submitter primary ciliary dyskinesia
- c.13372-15T>C Single submitter primary ciliary dyskinesia
- c.13372-4T>G Single submitter primary ciliary dyskinesia
- c.13372-5T>C Single submitter primary ciliary dyskinesia
- c.13372-6T>C Single submitter primary ciliary dyskinesia
- c.13524+13T>C Single submitter primary ciliary dyskinesia
- c.13524+19A>G Single submitter primary ciliary dyskinesia
- c.13524+9T>G Single submitter primary ciliary dyskinesia
- c.13714+8C>T Single submitter primary ciliary dyskinesia
- c.13715-15_13715-13del Single submitter primary ciliary dyskinesia
- c.13715-18C>G Single submitter primary ciliary dyskinesia
- c.13836+15G>A Single submitter primary ciliary dyskinesia
- c.13836+7G>A Single submitter primary ciliary dyskinesia
- c.13837-12T>G Single submitter primary ciliary dyskinesia
- c.13837-17A>G Single submitter primary ciliary dyskinesia
- c.13837-4C>T Single submitter primary ciliary dyskinesia
- c.1407+13T>C Single submitter primary ciliary dyskinesia
- c.1407+20_1407+32del Single submitter primary ciliary dyskinesia
- c.1407+7A>G Single submitter primary ciliary dyskinesia
- c.1407+8T>C Single submitter primary ciliary dyskinesia
- c.1516-13A>G Single submitter primary ciliary dyskinesia
- c.1516-14T>C Single submitter primary ciliary dyskinesia
- c.1516-15C>A Single submitter primary ciliary dyskinesia
- c.1516-15C>G Single submitter primary ciliary dyskinesia
- c.1516-15C>T Single submitter primary ciliary dyskinesia
- c.1516-15del Single submitter primary ciliary dyskinesia
- c.1516-20T>A Single submitter primary ciliary dyskinesia
- c.1617+19A>T Single submitter primary ciliary dyskinesia
- c.1618-13_1618-8del Single submitter primary ciliary dyskinesia
- c.1618-13A>G Single submitter primary ciliary dyskinesia
- c.1764+12G>A Single submitter primary ciliary dyskinesia
- c.1764+20C>T Single submitter primary ciliary dyskinesia
- c.1765-11C>G Single submitter primary ciliary dyskinesia
- c.1765-15A>T Single submitter primary ciliary dyskinesia
- c.1765-8T>C Single submitter primary ciliary dyskinesia
- c.1765-9C>G Single submitter primary ciliary dyskinesia
- c.1765-9C>T Single submitter primary ciliary dyskinesia
- c.1962+11A>G Single submitter primary ciliary dyskinesia
- c.1962+15C>A Single submitter primary ciliary dyskinesia
- c.1963-13T>C Single submitter primary ciliary dyskinesia
- c.1963-17T>A Single submitter primary ciliary dyskinesia
- c.2039+6del Single submitter primary ciliary dyskinesia
- c.2039+7A>G Single submitter primary ciliary dyskinesia
- c.2040-18A>G Single submitter primary ciliary dyskinesia
- c.2139+14T>G Single submitter primary ciliary dyskinesia
- c.2139+16A>G Single submitter primary ciliary dyskinesia
- c.2259+14T>C Single submitter primary ciliary dyskinesia
- c.2260-11T>A Single submitter primary ciliary dyskinesia
- c.2260-8A>C Single submitter primary ciliary dyskinesia
- c.2395+9A>G Single submitter primary ciliary dyskinesia
- c.2396-15A>G Single submitter primary ciliary dyskinesia
- c.2396-18A>G Single submitter primary ciliary dyskinesia
- c.2396-19_2396-18dup Single submitter primary ciliary dyskinesia
- c.2583+10A>G Single submitter primary ciliary dyskinesia
- c.2583+18T>A Single submitter primary ciliary dyskinesia
- c.2583+9G>A Single submitter primary ciliary dyskinesia
- c.2584-10C>T Single submitter primary ciliary dyskinesia
- c.2584-20G>A Single submitter primary ciliary dyskinesia
- c.2665-4C>G Single submitter primary ciliary dyskinesia
- c.2665-9C>T Single submitter primary ciliary dyskinesia
- c.2781+7T>G Single submitter primary ciliary dyskinesia
- c.2781+8C>G Single submitter primary ciliary dyskinesia
- c.2781+9T>C Single submitter primary ciliary dyskinesia
- c.2902-19T>A Single submitter primary ciliary dyskinesia
- c.2902-6T>C Single submitter primary ciliary dyskinesia
- c.3034+12C>T Single submitter primary ciliary dyskinesia
- c.3034+13G>A Single submitter primary ciliary dyskinesia
- c.3034+16A>C Single submitter primary ciliary dyskinesia
- c.3034+16A>G Single submitter primary ciliary dyskinesia
- c.3035-15G>A Single submitter primary ciliary dyskinesia
- c.3150+15A>C Single submitter primary ciliary dyskinesia
- c.3150+15A>G Single submitter primary ciliary dyskinesia
- c.3151-17C>A Single submitter primary ciliary dyskinesia
- c.3257+12A>G Single submitter primary ciliary dyskinesia
- c.3257+13T>C Single submitter primary ciliary dyskinesia
- c.3257+16G>A Single submitter primary ciliary dyskinesia
- c.3333+10A>G Single submitter primary ciliary dyskinesia
- c.3333+17A>G Single submitter primary ciliary dyskinesia
- c.3333+18C>A Single submitter primary ciliary dyskinesia
- c.3333+18C>T Single submitter primary ciliary dyskinesia
- c.3523+15T>C Single submitter primary ciliary dyskinesia
- c.3720+13T>C Single submitter primary ciliary dyskinesia
- c.3721-10C>T Single submitter primary ciliary dyskinesia
- c.3721-19G>T Single submitter primary ciliary dyskinesia
- c.3721-20T>G Single submitter primary ciliary dyskinesia
- c.3847+17T>C Single submitter primary ciliary dyskinesia
- c.3847+19_3847+20insGA Single submitter primary ciliary dyskinesia
- c.3847+8A>C Single submitter primary ciliary dyskinesia
- c.3848-10T>G Single submitter primary ciliary dyskinesia
- c.390+14dup Single submitter primary ciliary dyskinesia
- c.4083+11A>T Single submitter primary ciliary dyskinesia
- c.4083+14G>C Single submitter primary ciliary dyskinesia
- c.4084-11T>C Single submitter primary ciliary dyskinesia
- c.4188+17C>T Single submitter primary ciliary dyskinesia
- c.4189-12T>C Single submitter primary ciliary dyskinesia
- c.4189-4G>A Single submitter primary ciliary dyskinesia
- c.4302+12A>G Single submitter primary ciliary dyskinesia
- c.4302+17C>G Single submitter primary ciliary dyskinesia
- c.4302+9A>C Single submitter primary ciliary dyskinesia
- c.4365+12T>A Single submitter primary ciliary dyskinesia
- c.4365+15T>C Single submitter primary ciliary dyskinesia
- c.4365+18T>A Single submitter primary ciliary dyskinesia
- c.4365+20G>A Single submitter primary ciliary dyskinesia
- c.4366-9T>C Single submitter primary ciliary dyskinesia
- c.4466+10G>C Single submitter primary ciliary dyskinesia
- c.4467-15T>C Single submitter primary ciliary dyskinesia
- c.4467-17_4467-14del Single submitter primary ciliary dyskinesia
- c.4467-6T>G Single submitter primary ciliary dyskinesia
- c.4604+11A>G Single submitter primary ciliary dyskinesia
- c.4845+16C>T Single submitter primary ciliary dyskinesia
- c.4845+9G>A Single submitter primary ciliary dyskinesia
- c.4846-9C>A Single submitter primary ciliary dyskinesia
- c.5045+12dup Single submitter primary ciliary dyskinesia
- c.5045+8T>C Single submitter primary ciliary dyskinesia
- c.5046-15G>A Single submitter primary ciliary dyskinesia
- c.5046-16C>T Single submitter primary ciliary dyskinesia
- c.5046-5T>C Single submitter primary ciliary dyskinesia
- c.5199+12T>C Single submitter primary ciliary dyskinesia
- c.5199+20T>C Single submitter primary ciliary dyskinesia
- c.5200-10G>A Single submitter primary ciliary dyskinesia
- c.5200-12A>T Single submitter primary ciliary dyskinesia
- c.5200-8A>G Single submitter primary ciliary dyskinesia
- c.525+12T>G Single submitter primary ciliary dyskinesia
- c.526-6T>A Single submitter primary ciliary dyskinesia
- c.5364-14G>A Single submitter primary ciliary dyskinesia
- c.5364-15C>T Single submitter primary ciliary dyskinesia
- c.5364-4G>A Single submitter primary ciliary dyskinesia
- c.5466+11A>T Single submitter primary ciliary dyskinesia
- c.5466+12G>A Single submitter primary ciliary dyskinesia
- c.5466+15T>C Single submitter primary ciliary dyskinesia
- c.5466+7del Single submitter primary ciliary dyskinesia
- c.5466+9T>C Single submitter primary ciliary dyskinesia
- c.5467-13C>A Single submitter primary ciliary dyskinesia
- c.5467-13C>G Single submitter primary ciliary dyskinesia
- c.5467-18T>C Single submitter primary ciliary dyskinesia
- c.5571+10C>T Single submitter primary ciliary dyskinesia
- c.5571+15T>G Single submitter primary ciliary dyskinesia
- c.5571+20A>G Single submitter primary ciliary dyskinesia
- c.5733+14A>G Single submitter primary ciliary dyskinesia
- c.5734-13G>T Single submitter primary ciliary dyskinesia
- c.5958+10del Single submitter primary ciliary dyskinesia
- c.5958+15T>C Single submitter primary ciliary dyskinesia
- c.5958+9T>C Single submitter primary ciliary dyskinesia
- c.611-13C>A Single submitter primary ciliary dyskinesia
- c.611-8G>T Single submitter primary ciliary dyskinesia
- c.6131+11C>T Single submitter primary ciliary dyskinesia
- c.6131+18_6131+19insA Single submitter primary ciliary dyskinesia
- c.6131+18C>T Single submitter primary ciliary dyskinesia
- c.6131+19G>T Single submitter primary ciliary dyskinesia
- c.6131+24_6131+25dup Single submitter primary ciliary dyskinesia
- c.6132-15G>C Single submitter primary ciliary dyskinesia
- c.6310+7G>T Single submitter primary ciliary dyskinesia
- c.6311-14G>A Single submitter primary ciliary dyskinesia
- c.6311-5G>A Single submitter primary ciliary dyskinesia
- c.6311-6T>C Single submitter primary ciliary dyskinesia
- c.6498+12G>A Single submitter primary ciliary dyskinesia
- c.6585+12G>A Single submitter primary ciliary dyskinesia
- c.6585+17A>G Single submitter primary ciliary dyskinesia
- c.6586-19T>C Single submitter primary ciliary dyskinesia
- c.6693+12G>C Single submitter primary ciliary dyskinesia
- c.6694-19C>T Single submitter primary ciliary dyskinesia
- c.6828+10C>T Single submitter primary ciliary dyskinesia
- c.6828+17C>A Single submitter primary ciliary dyskinesia
- c.6828+7_6828+8insGGAATA Single submitter primary ciliary dyskinesia
- c.6990+16T>A Single submitter primary ciliary dyskinesia
Uncertain significance 1201
Showing the top 300 by review status; the full set is in the sitemap.
- c.10308+107G>A Multiple submitters
- p.Ala1180Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala1244Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala1890Thr Multiple submitters primary ciliary dyskinesia
- p.Ala2361Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala263Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala2685Pro Multiple submitters ⚠
- p.Ala291Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala291Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala3207Thr Multiple submitters primary ciliary dyskinesia
- p.Ala3361Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala3679Thr Multiple submitters primary ciliary dyskinesia
- p.Ala3823Val Multiple submitters spermatogenic failure 46 ⚠
- p.Ala4059Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala4094Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala473Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala788Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala987Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg1014Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg1072Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg1072Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg1126His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg114Trp Multiple submitters primary ciliary dyskinesia
- p.Arg1302Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg1450Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg1537Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg1737His Multiple submitters spermatogenic failure 46
- p.Arg1751Gln Multiple submitters primary ciliary dyskinesia
- p.Arg2035His Multiple submitters primary ciliary dyskinesia
- p.Arg2173Cys Multiple submitters primary ciliary dyskinesia
- p.Arg2173Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg240Cys Multiple submitters primary ciliary dyskinesia
- p.Arg240His Multiple submitters primary ciliary dyskinesia
- p.Arg2592Trp Multiple submitters spermatogenic failure 46 ⚠
- p.Arg2957Cys Multiple submitters spermatogenic failure 46 ⚠
- p.Arg2957His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg311Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg311Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg3123Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg3143Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg320Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg3249Cys Multiple submitters primary ciliary dyskinesia
- p.Arg3517Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg3564Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg3564Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg3837Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg3899Trp Multiple submitters primary ciliary dyskinesia
- p.Arg398Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4018His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4083Gly Multiple submitters primary ciliary dyskinesia
- p.Arg4124Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4219Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4325Gln Multiple submitters primary ciliary dyskinesia
- p.Arg4336Lys Multiple submitters primary ciliary dyskinesia
- p.Arg4344Cys Multiple submitters primary ciliary dyskinesia
- p.Arg452Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg4675Gln Multiple submitters primary ciliary dyskinesia
- p.Arg4675Gly Multiple submitters primary ciliary dyskinesia
- p.Arg4687Ter Multiple submitters spermatogenic failure 46
- p.Arg699His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg744Trp Multiple submitters primary ciliary dyskinesia
- p.Arg769Cys Multiple submitters primary ciliary dyskinesia
- p.Arg807Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn1305Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn1833Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn2179Lys Multiple submitters primary ciliary dyskinesia
- p.Asn2375His Multiple submitters spermatogenic failure 46 ⚠
- p.Asn2527Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn336Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn3483Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn3510Ser Multiple submitters primary ciliary dyskinesia
- p.Asn3558Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn3782Thr Multiple submitters spermatogenic failure 46
- p.Asn3807Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn4139Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn4233Tyr Multiple submitters primary ciliary dyskinesia
- p.Asn4392Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn4516Asp Multiple submitters spermatogenic failure 46 ⚠
- p.Asn4597Ser Multiple submitters primary ciliary dyskinesia
- p.Asn651Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp1043Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp1043Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp1236His Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp1459Asn Multiple submitters primary ciliary dyskinesia
- p.Asp1612Val Multiple submitters primary ciliary dyskinesia
- p.Asp1616Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp1616Val Multiple submitters primary ciliary dyskinesia
- p.Asp1742Asn Multiple submitters primary ciliary dyskinesia
- p.Asp1960Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp2258Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp2290Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp244Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp3075Asn Multiple submitters primary ciliary dyskinesia
- p.Asp3601Asn Multiple submitters
- p.Asp4206Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp4519Asn Multiple submitters primary ciliary dyskinesia
- p.Asp540Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp720Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys1618Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys2456Gly Multiple submitters primary ciliary dyskinesia
- p.Gln1121Lys Multiple submitters primary ciliary dyskinesia
- p.Gln2145Arg Multiple submitters spermatogenic failure 46 ⚠
- p.Gln2183Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln297Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln3280Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gln801Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu128Asp Multiple submitters primary ciliary dyskinesia
- p.Glu1371Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu1567Ala Multiple submitters primary ciliary dyskinesia
- p.Glu1584Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu1653Lys Multiple submitters primary ciliary dyskinesia
- p.Glu2260Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu3702Asp Multiple submitters spermatogenic failure 46 ⚠
- p.Glu3955Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu3960Lys Multiple submitters primary ciliary dyskinesia
- p.Glu40Gly Multiple submitters primary ciliary dyskinesia
- p.Glu4108Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu4613Val Multiple submitters primary ciliary dyskinesia
- p.Glu52Gly Multiple submitters primary ciliary dyskinesia
- p.Glu561Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu572Asp Multiple submitters primary ciliary dyskinesia
- p.Glu587Gln Multiple submitters spermatogenic failure 46 ⚠
- p.Gly1005Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly1020Glu Multiple submitters ⚠
- p.Gly1724Asp Multiple submitters primary ciliary dyskinesia
- p.Gly2058Arg Multiple submitters primary ciliary dyskinesia
- p.Gly215Glu Multiple submitters primary ciliary dyskinesia
- p.Gly3055Asp Multiple submitters primary ciliary dyskinesia
- p.Gly318Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly3526Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly3726Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly3762Asp Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly3762Ser Multiple submitters primary ciliary dyskinesia
- p.Gly3968Ser Multiple submitters primary ciliary dyskinesia
- p.Gly4428Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly70Glu Multiple submitters primary ciliary dyskinesia
- p.Gly812Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His1923Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.His1990Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.His2311Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.His487Pro Multiple submitters primary ciliary dyskinesia
- p.His695Asp Multiple submitters DNAH8-related disorder
- p.His716Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.His935Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile1097Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile1100Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile1319Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile1515Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile151Val Multiple submitters primary ciliary dyskinesia
- p.Ile1759Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile1949Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile2662Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile2742Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile2890Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile304Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile3455Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile3920Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile4064Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile4199Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile4473Leu Multiple submitters spermatogenic failure 46
- p.Ile4500Thr Multiple submitters primary ciliary dyskinesia
- p.Ile4595Thr Multiple submitters primary ciliary dyskinesia
- p.Ile589Met Multiple submitters primary ciliary dyskinesia
- p.Ile686Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile700Met Multiple submitters primary ciliary dyskinesia
- p.Ile731Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile994Leu Multiple submitters spermatogenic failure 46 ⚠
- p.Leu1529Val Multiple submitters primary ciliary dyskinesia
- p.Leu1873Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu194Phe Multiple submitters primary ciliary dyskinesia
- p.Leu2105Phe Multiple submitters primary ciliary dyskinesia
- p.Leu231Pro Multiple submitters ⚠
- p.Leu2785Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu3009Met Multiple submitters spermatogenic failure 46 ⚠
- p.Leu313Arg Multiple submitters primary ciliary dyskinesia
- p.Leu3857Trp Multiple submitters primary ciliary dyskinesia
- p.Leu4514Pro Multiple submitters primary ciliary dyskinesia
- p.Leu4536Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu4620His Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu940Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys1201Glu Multiple submitters primary ciliary dyskinesia
- p.Lys1411Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys1729Gln Multiple submitters primary ciliary dyskinesia
- p.Lys1792Asn Multiple submitters primary ciliary dyskinesia
- p.Lys339Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys3479Asn Multiple submitters primary ciliary dyskinesia
- p.Lys3840Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Met1298Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Met1355Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Met1574Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Met2198Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Met219Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Met2572Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Met2768Thr Multiple submitters primary ciliary dyskinesia
- p.Met3648Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Met3802Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Met3981Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Met399Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Met4157Val Multiple submitters primary ciliary dyskinesia
- p.Met4445Val Multiple submitters primary ciliary dyskinesia
- p.Met4482Thr Multiple submitters primary ciliary dyskinesia
- p.Met4482Val Multiple submitters primary ciliary dyskinesia
- p.Met4564Thr Multiple submitters primary ciliary dyskinesia
- p.Phe1687Leu Multiple submitters primary ciliary dyskinesia
- p.Phe1800Tyr Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe2657Leu Multiple submitters primary ciliary dyskinesia
- p.Phe3411Leu Multiple submitters primary ciliary dyskinesia
- p.Phe3474Ser Multiple submitters primary ciliary dyskinesia
- p.Phe3910Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Phe4652Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro1115Leu Multiple submitters primary ciliary dyskinesia
- p.Pro120Ser Multiple submitters primary ciliary dyskinesia
- p.Pro1284Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro146Ser Multiple submitters primary ciliary dyskinesia
- p.Pro228Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro2708Gln Multiple submitters primary ciliary dyskinesia
- p.Pro2774Ser Multiple submitters primary ciliary dyskinesia
- p.Pro2948Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro3145Arg Multiple submitters primary ciliary dyskinesia
- p.Pro3614Leu Multiple submitters primary ciliary dyskinesia
- p.Pro36Ser Multiple submitters spermatogenic failure 46
- p.Pro3728Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro4361Leu Multiple submitters spermatogenic failure 46 ⚠
- p.Pro4673Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro687Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro762Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser1680Gly Multiple submitters spermatogenic failure 46
- p.Ser1993Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser2725Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser3940Pro Multiple submitters primary ciliary dyskinesia
- p.Ser4320Pro Multiple submitters primary ciliary dyskinesia
- p.Ser4530Cys Multiple submitters primary ciliary dyskinesia
- p.Ser4609Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser48Pro Multiple submitters primary ciliary dyskinesia
- p.Ser717Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser851Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr1131Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr1488Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr1659Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr2033Ala Multiple submitters primary ciliary dyskinesia
- p.Thr2165Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr2726Ile Multiple submitters primary ciliary dyskinesia
- p.Thr3017Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr331Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr3606Met Multiple submitters spermatogenic failure 46 ⚠
- p.Thr3793Met Multiple submitters primary ciliary dyskinesia
- p.Thr38Ser Multiple submitters primary ciliary dyskinesia
- p.Thr3951Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr3991Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr4125Ala Multiple submitters primary ciliary dyskinesia
- p.Thr4154Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr4201Ala Multiple submitters spermatogenic failure 46 ⚠
- p.Thr4213Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr4214Met Multiple submitters primary ciliary dyskinesia
- p.Thr4503Ser Multiple submitters primary ciliary dyskinesia
- p.Thr4552Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr1468Cys Multiple submitters primary ciliary dyskinesia
- p.Tyr2046Cys Multiple submitters primary ciliary dyskinesia
- p.Tyr222Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr2951Cys Multiple submitters primary ciliary dyskinesia
- p.Tyr3909Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr866Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr999Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Val1505Ile Multiple submitters primary ciliary dyskinesia
- p.Val166Asp Multiple submitters primary ciliary dyskinesia
- p.Val1710Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val1848Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val2086Met Multiple submitters primary ciliary dyskinesia
- p.Val2219Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Val2232Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val2329Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Val2435Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val2462Ile Multiple submitters primary ciliary dyskinesia
- p.Val3460Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val3800Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Val4430Ala Multiple submitters primary ciliary dyskinesia ⚠
- c.11118+3A>G Single submitter primary ciliary dyskinesia
- c.11119-3del Single submitter primary ciliary dyskinesia
- c.1116+4A>T Single submitter primary ciliary dyskinesia
- c.11458-6T>A Single submitter primary ciliary dyskinesia
- c.12130-3T>G Single submitter primary ciliary dyskinesia
- c.12451+6A>T Single submitter primary ciliary dyskinesia
- c.12525+3_12525+4delinsTA Single submitter primary ciliary dyskinesia
- c.12525+5G>A Single submitter primary ciliary dyskinesia
- c.13371+4A>G Single submitter primary ciliary dyskinesia
- c.13714+4T>C Single submitter primary ciliary dyskinesia
- c.13715-2dup Single submitter primary ciliary dyskinesia
- c.13715-3A>G Single submitter primary ciliary dyskinesia
- c.1407+14T>C Single submitter primary ciliary dyskinesia
- c.1407+3A>G Single submitter primary ciliary dyskinesia
- c.1515+3A>G Single submitter primary ciliary dyskinesia
- c.2039+6C>T Single submitter primary ciliary dyskinesia
- c.2140-20C>G Single submitter primary ciliary dyskinesia
- c.2259+6C>T Single submitter primary ciliary dyskinesia
- c.2583+6A>G Single submitter primary ciliary dyskinesia
- c.2664+7A>T Single submitter primary ciliary dyskinesia
- c.3035-3T>C Single submitter primary ciliary dyskinesia
- c.3721-3C>T Single submitter primary ciliary dyskinesia
- c.3848-3C>G Single submitter primary ciliary dyskinesia
- c.390+5G>C Single submitter primary ciliary dyskinesia