Sugi Variant

Sugi Variant/DNAH5

DNAH5 — 6328 ClinVar variants

All ClinVar germline DNAH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1148 flagged for review →

464 Pathogenic · 171 Pathogenic/Likely pathogenic · 428 Likely pathogenic · 550 Conflicting · 354 Benign · 70 Benign/Likely benign · 2838 Likely benign · 1453 Uncertain significance

Full DNAH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1148

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 270

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 270

Predictors lean, ClinVar uncertain 779

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 779

Predictors split 95

The independent predictors disagree with each other — read with care.

All DNAH5 variants

Pathogenic 464

Showing the top 300 by review status; the full set is in the sitemap.

Pathogenic/Likely pathogenic 171

  • c.11028+2T>C Multiple submitters primary ciliary dyskinesia 3
  • c.11029-2A>T Multiple submitters primary ciliary dyskinesia
  • c.12910-1G>C Multiple submitters primary ciliary dyskinesia
  • c.2984-2A>C Multiple submitters primary ciliary dyskinesia
  • c.3598+1G>A Multiple submitters primary ciliary dyskinesia
  • c.3598+2T>C Multiple submitters Inborn genetic diseases
  • c.3835-2del Multiple submitters primary ciliary dyskinesia
  • c.4053+1G>A Multiple submitters primary ciliary dyskinesia
  • c.4797-1G>C Multiple submitters primary ciliary dyskinesia
  • c.5114+1G>C Multiple submitters primary ciliary dyskinesia
  • c.5710-2A>G Multiple submitters primary ciliary dyskinesia 3
  • c.5883-1G>A Multiple submitters primary ciliary dyskinesia 3
  • c.5883-2A>G Multiple submitters primary ciliary dyskinesia
  • c.6988+2T>C Multiple submitters primary ciliary dyskinesia
  • c.7407+1G>A Multiple submitters primary ciliary dyskinesia 3
  • c.7753-1G>T Multiple submitters primary ciliary dyskinesia 3
  • c.8010+3A>G Multiple submitters primary ciliary dyskinesia 3
  • c.9105+2T>C Multiple submitters primary ciliary dyskinesia
  • c.9106-1G>A Multiple submitters primary ciliary dyskinesia
  • c.9605+1del Multiple submitters primary ciliary dyskinesia
  • c.9720+5G>A Multiple submitters primary ciliary dyskinesia 3
  • c.9897+1G>C Multiple submitters primary ciliary dyskinesia
  • p.Ala278fs Multiple submitters primary ciliary dyskinesia
  • p.Ala3121_Leu3122insTer Multiple submitters primary ciliary dyskinesia
  • p.Ala318fs Multiple submitters primary ciliary dyskinesia
  • p.Ala4354fs Multiple submitters primary ciliary dyskinesia
  • p.Ala4447fs Multiple submitters primary ciliary dyskinesia
  • p.Ala568fs Multiple submitters primary ciliary dyskinesia
  • p.Arg1568fs Multiple submitters primary ciliary dyskinesia
  • p.Arg1711Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Arg1716Pro Multiple submitters primary ciliary dyskinesia 3
  • p.Arg2102Cys Multiple submitters primary ciliary dyskinesia 3
  • p.Arg2170fs Multiple submitters primary ciliary dyskinesia
  • p.Arg2228Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg2255Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Arg2366Trp Multiple submitters primary ciliary dyskinesia
  • p.Arg2501fs Multiple submitters primary ciliary dyskinesia 3
  • p.Arg2771Cys Multiple submitters primary ciliary dyskinesia 3
  • p.Arg2772Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg2833His Multiple submitters primary ciliary dyskinesia 3
  • p.Arg284Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg293fs Multiple submitters primary ciliary dyskinesia 3
  • p.Arg3000fs Multiple submitters primary ciliary dyskinesia 3
  • p.Arg3000Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg3042Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg3168Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
  • p.Arg3481Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg3539Cys Multiple submitters primary ciliary dyskinesia
  • p.Arg3539His Multiple submitters primary ciliary dyskinesia
  • p.Arg3620Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg3634Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg3666Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg3885Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg4592Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Arg577Thr Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis ⚠
  • p.Arg742Ter Multiple submitters primary ciliary dyskinesia
  • p.Arg761fs Multiple submitters primary ciliary dyskinesia
  • p.Asn1438fs Multiple submitters primary ciliary dyskinesia
  • p.Asn2356fs Multiple submitters primary ciliary dyskinesia 3
  • p.Asn4487Ter Multiple submitters primary ciliary dyskinesia
  • p.Asp1852fs Multiple submitters primary ciliary dyskinesia 3
  • p.Asp1951fs Multiple submitters primary ciliary dyskinesia 3
  • p.Asp2796fs Multiple submitters primary ciliary dyskinesia 3
  • p.Asp4398fs Multiple submitters primary ciliary dyskinesia
  • p.Asp4437fs Multiple submitters primary ciliary dyskinesia
  • p.Cys2030Gly Multiple submitters primary ciliary dyskinesia
  • p.Cys2141_Glu2142delinsTer Multiple submitters primary ciliary dyskinesia
  • p.Cys2750Ter Multiple submitters primary ciliary dyskinesia
  • p.Cys3325Ter Multiple submitters primary ciliary dyskinesia
  • p.Cys3400fs Multiple submitters primary ciliary dyskinesia
  • p.Gln1546Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln1550Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln1687Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Gln2009Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln2112fs Multiple submitters primary ciliary dyskinesia
  • p.Gln2247Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln2457Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln2678Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln2682Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln2802Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln3232Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln3260Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Gln3267Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln3331fs Multiple submitters primary ciliary dyskinesia
  • p.Gln3467Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln3508Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln3609Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Gln3624Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln3797Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln3846Ter Multiple submitters DNAH5-related disorder
  • p.Gln4089Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln4137Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln4196Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln713Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Gln845Ter Multiple submitters primary ciliary dyskinesia
  • p.Gln867Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
  • p.Glu117Ter Multiple submitters primary ciliary dyskinesia
  • p.Glu1843Ter Multiple submitters primary ciliary dyskinesia
  • p.Glu2143Ter Multiple submitters primary ciliary dyskinesia
  • p.Glu2633fs Multiple submitters primary ciliary dyskinesia 3
  • p.Glu3093fs Multiple submitters primary ciliary dyskinesia 3
  • p.Glu3127Ter Multiple submitters primary ciliary dyskinesia
  • p.Glu3244fs Multiple submitters primary ciliary dyskinesia
  • p.Glu352Ter Multiple submitters primary ciliary dyskinesia
  • p.Glu3537fs Multiple submitters primary ciliary dyskinesia
  • p.Glu3618fs Multiple submitters primary ciliary dyskinesia
  • p.Glu3979fs Multiple submitters primary ciliary dyskinesia
  • p.Glu4211Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Glu912Ter Multiple submitters primary ciliary dyskinesia
  • p.Glu91Ter Multiple submitters primary ciliary dyskinesia
  • p.Glu947fs Multiple submitters primary ciliary dyskinesia 3
  • p.Gly1976Ter Multiple submitters primary ciliary dyskinesia
  • p.Gly2123fs Multiple submitters primary ciliary dyskinesia
  • p.Gly2464fs Multiple submitters primary ciliary dyskinesia
  • p.Gly2950Ter Multiple submitters primary ciliary dyskinesia
  • p.Gly3006= Multiple submitters primary ciliary dyskinesia
  • p.Gly3150fs Multiple submitters primary ciliary dyskinesia
  • p.His1505fs Multiple submitters primary ciliary dyskinesia
  • p.His3172fs Multiple submitters primary ciliary dyskinesia
  • p.Ile1156fs Multiple submitters primary ciliary dyskinesia
  • p.Ile2114_Ile2115insTer Multiple submitters primary ciliary dyskinesia 3
  • p.Ile2896fs Multiple submitters primary ciliary dyskinesia
  • p.Ile3269fs Multiple submitters primary ciliary dyskinesia 3
  • p.Leu1007fs Multiple submitters primary ciliary dyskinesia
  • p.Leu1197fs Multiple submitters primary ciliary dyskinesia 3
  • p.Leu1467fs Multiple submitters primary ciliary dyskinesia
  • p.Leu1889fs Multiple submitters primary ciliary dyskinesia 3
  • p.Leu2162fs Multiple submitters primary ciliary dyskinesia
  • p.Leu3207fs Multiple submitters primary ciliary dyskinesia 3
  • p.Leu3327fs Multiple submitters primary ciliary dyskinesia 3
  • p.Leu364fs Multiple submitters primary ciliary dyskinesia 3
  • p.Leu3887fs Multiple submitters primary ciliary dyskinesia
  • p.Lys2098fs Multiple submitters primary ciliary dyskinesia 3
  • p.Lys322fs Multiple submitters primary ciliary dyskinesia
  • p.Lys4366Ter Multiple submitters primary ciliary dyskinesia
  • p.Met2083Ile Multiple submitters primary ciliary dyskinesia
  • p.Met2447fs Multiple submitters primary ciliary dyskinesia
  • p.Phe2843Ser Multiple submitters primary ciliary dyskinesia
  • p.Pro1098fs Multiple submitters primary ciliary dyskinesia
  • p.Pro701fs Multiple submitters primary ciliary dyskinesia
  • p.Ser1721Ter Multiple submitters primary ciliary dyskinesia
  • p.Ser1733Ter Multiple submitters primary ciliary dyskinesia
  • p.Ser1764Pro Multiple submitters primary ciliary dyskinesia
  • p.Ser2103Ter Multiple submitters primary ciliary dyskinesia
  • p.Ser2203_Leu2204insTer Multiple submitters primary ciliary dyskinesia
  • p.Ser3574fs Multiple submitters primary ciliary dyskinesia 3
  • p.Ser3935Ter Multiple submitters primary ciliary dyskinesia
  • p.Ser419fs Multiple submitters primary ciliary dyskinesia 3
  • p.Thr1386fs Multiple submitters primary ciliary dyskinesia
  • p.Thr2274fs Multiple submitters DNAH5-related disorder
  • p.Trp1463Ter Multiple submitters primary ciliary dyskinesia
  • p.Trp1632Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis
  • p.Trp2028Ter Multiple submitters primary ciliary dyskinesia
  • p.Trp290Ter Multiple submitters primary ciliary dyskinesia
  • p.Trp327Ter Multiple submitters primary ciliary dyskinesia
  • p.Trp3409Ser Multiple submitters primary ciliary dyskinesia
  • p.Trp4036Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Trp4096Ter Multiple submitters primary ciliary dyskinesia
  • p.Trp4481Ter Multiple submitters primary ciliary dyskinesia
  • p.Trp4545Arg Multiple submitters primary ciliary dyskinesia
  • p.Tyr1225Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Tyr1706Ter Multiple submitters primary ciliary dyskinesia
  • p.Tyr2000Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Tyr2219Ter Multiple submitters primary ciliary dyskinesia 3
  • p.Tyr2549Ter Multiple submitters primary ciliary dyskinesia
  • p.Tyr523Ter Multiple submitters primary ciliary dyskinesia
  • p.Tyr84Ter Multiple submitters primary ciliary dyskinesia
  • p.Val1014fs Multiple submitters primary ciliary dyskinesia
  • p.Val126fs Multiple submitters primary ciliary dyskinesia 3
  • p.Val2676Ter Multiple submitters primary ciliary dyskinesia
  • p.Val892fs Multiple submitters primary ciliary dyskinesia

Likely pathogenic 428

Showing the top 300 by review status; the full set is in the sitemap.

Conflicting classifications of pathogenicity 550

Showing the top 300 by review status; the full set is in the sitemap.

Benign 354

Showing the top 300 by review status; the full set is in the sitemap.

Benign/Likely benign 70

Likely benign 2838

Showing the top 300 by review status; the full set is in the sitemap.

  • c.10281+65T>C Multiple submitters
  • c.10556-46A>T Multiple submitters
  • c.11028+52G>A Multiple submitters
  • c.11455+7T>G Multiple submitters primary ciliary dyskinesia 3
  • c.11570+4C>T Multiple submitters primary ciliary dyskinesia
  • c.12033+7A>C Multiple submitters primary ciliary dyskinesia 3
  • c.12279+20T>G Multiple submitters primary ciliary dyskinesia
  • c.12705+10C>T Multiple submitters primary ciliary dyskinesia
  • c.13724-7T>G Multiple submitters primary ciliary dyskinesia
  • c.1537-50G>A Multiple submitters
  • c.192+19C>T Multiple submitters primary ciliary dyskinesia
  • c.2052+22C>A Multiple submitters primary ciliary dyskinesia 3
  • c.2578-36A>T Multiple submitters
  • c.3396+24C>T Multiple submitters
  • c.3834+74G>A Multiple submitters
  • c.4053+13C>T Multiple submitters primary ciliary dyskinesia
  • c.4053+150dup Multiple submitters primary ciliary dyskinesia
  • c.4054-20T>C Multiple submitters primary ciliary dyskinesia
  • c.4356-3_4356-2del Multiple submitters primary ciliary dyskinesia
  • c.4356-57T>C Multiple submitters
  • c.4596+95A>G Multiple submitters
  • c.4597-64G>A Multiple submitters
  • c.5115-5_5115-4delinsCC Multiple submitters primary ciliary dyskinesia
  • c.5272-15dup Multiple submitters primary ciliary dyskinesia
  • c.5272-32T>C Multiple submitters
  • c.5882+6G>A Multiple submitters primary ciliary dyskinesia
  • c.6062-77C>T Multiple submitters
  • c.660+21C>T Multiple submitters
  • c.6688-54C>T Multiple submitters
  • c.6989-18T>C Multiple submitters primary ciliary dyskinesia
  • c.6989-22T>C Multiple submitters
  • c.7888-6dup Multiple submitters primary ciliary dyskinesia
  • c.8821-7A>G Multiple submitters primary ciliary dyskinesia
  • c.9373+38G>A Multiple submitters
  • c.975+8G>C Multiple submitters primary ciliary dyskinesia
  • c.976-73T>C Multiple submitters
  • c.*1502C>T Multiple submitters primary ciliary dyskinesia 3
  • p.Ala1205= Multiple submitters primary ciliary dyskinesia
  • p.Ala1781= Multiple submitters primary ciliary dyskinesia
  • p.Ala192Thr Multiple submitters primary ciliary dyskinesia
  • p.Ala1969= Multiple submitters primary ciliary dyskinesia
  • p.Ala2362= Multiple submitters primary ciliary dyskinesia
  • p.Ala278Val Multiple submitters primary ciliary dyskinesia
  • p.Ala3226Val Multiple submitters primary ciliary dyskinesia
  • p.Ala4215= Multiple submitters primary ciliary dyskinesia
  • p.Ala769= Multiple submitters primary ciliary dyskinesia 3
  • p.Arg1143Cys Multiple submitters primary ciliary dyskinesia
  • p.Arg2287Trp Multiple submitters primary ciliary dyskinesia
  • p.Arg2501= Multiple submitters primary ciliary dyskinesia
  • p.Arg3168Gln Multiple submitters primary ciliary dyskinesia
  • p.Arg3481= Multiple submitters primary ciliary dyskinesia
  • p.Arg3867= Multiple submitters primary ciliary dyskinesia
  • p.Arg661His Multiple submitters primary ciliary dyskinesia
  • p.Arg683Gln Multiple submitters primary ciliary dyskinesia
  • p.Arg932= Multiple submitters primary ciliary dyskinesia
  • p.Arg956Cys Multiple submitters primary ciliary dyskinesia
  • p.Asn1020= Multiple submitters primary ciliary dyskinesia
  • p.Asn1925= Multiple submitters primary ciliary dyskinesia
  • p.Asn2211Ser Multiple submitters primary ciliary dyskinesia
  • p.Asn2363= Multiple submitters primary ciliary dyskinesia
  • p.Asn2987= Multiple submitters primary ciliary dyskinesia
  • p.Asn3049= Multiple submitters primary ciliary dyskinesia
  • p.Asn3616= Multiple submitters primary ciliary dyskinesia
  • p.Asn3763= Multiple submitters primary ciliary dyskinesia
  • p.Asn4151= Multiple submitters primary ciliary dyskinesia
  • p.Asn4573= Multiple submitters primary ciliary dyskinesia
  • p.Asn549= Multiple submitters primary ciliary dyskinesia
  • p.Asp1074= Multiple submitters primary ciliary dyskinesia
  • p.Asp1366= Multiple submitters primary ciliary dyskinesia
  • p.Asp1431= Multiple submitters primary ciliary dyskinesia
  • p.Asp1620= Multiple submitters primary ciliary dyskinesia
  • p.Asp1872= Multiple submitters primary ciliary dyskinesia
  • p.Asp191= Multiple submitters primary ciliary dyskinesia
  • p.Asp3778Gly Multiple submitters primary ciliary dyskinesia
  • p.Asp4057= Multiple submitters primary ciliary dyskinesia
  • p.Asp4230= Multiple submitters primary ciliary dyskinesia
  • p.Asp4398= Multiple submitters primary ciliary dyskinesia
  • p.Asp995= Multiple submitters primary ciliary dyskinesia
  • p.Cys1480= Multiple submitters primary ciliary dyskinesia
  • p.Cys1904= Multiple submitters primary ciliary dyskinesia
  • p.Cys4621= Multiple submitters primary ciliary dyskinesia
  • p.Gln1812= Multiple submitters primary ciliary dyskinesia
  • p.Gln528= Multiple submitters primary ciliary dyskinesia
  • p.Gln786= Multiple submitters primary ciliary dyskinesia
  • p.Gln85= Multiple submitters primary ciliary dyskinesia
  • p.Glu1073= Multiple submitters primary ciliary dyskinesia
  • p.Glu1843Ala Multiple submitters primary ciliary dyskinesia
  • p.Glu198= Multiple submitters primary ciliary dyskinesia
  • p.Glu2430Lys Multiple submitters primary ciliary dyskinesia
  • p.Glu2451= Multiple submitters primary ciliary dyskinesia 3
  • p.Glu2505= Multiple submitters primary ciliary dyskinesia
  • p.Glu3480= Multiple submitters primary ciliary dyskinesia
  • p.Glu693= Multiple submitters primary ciliary dyskinesia
  • p.Glu833= Multiple submitters primary ciliary dyskinesia
  • p.Gly1393= Multiple submitters primary ciliary dyskinesia
  • p.Gly1563= Multiple submitters primary ciliary dyskinesia
  • p.Gly1563Ser Multiple submitters primary ciliary dyskinesia
  • p.Gly1593= Multiple submitters primary ciliary dyskinesia
  • p.Gly1998= Multiple submitters primary ciliary dyskinesia
  • p.Gly2166= Multiple submitters primary ciliary dyskinesia 3
  • p.Gly2262= Multiple submitters primary ciliary dyskinesia
  • p.Gly2283= Multiple submitters primary ciliary dyskinesia
  • p.Gly2330= Multiple submitters primary ciliary dyskinesia
  • p.Gly2364= Multiple submitters primary ciliary dyskinesia
  • p.Gly2645= Multiple submitters primary ciliary dyskinesia
  • p.Gly2754= Multiple submitters primary ciliary dyskinesia
  • p.Gly4063= Multiple submitters primary ciliary dyskinesia
  • p.Gly920= Multiple submitters primary ciliary dyskinesia
  • p.His1303Arg Multiple submitters primary ciliary dyskinesia
  • p.His3071= Multiple submitters primary ciliary dyskinesia
  • p.Ile1291= Multiple submitters primary ciliary dyskinesia
  • p.Ile1608= Multiple submitters primary ciliary dyskinesia
  • p.Ile1892= Multiple submitters primary ciliary dyskinesia
  • p.Ile2459= Multiple submitters primary ciliary dyskinesia
  • p.Ile2697= Multiple submitters primary ciliary dyskinesia
  • p.Ile3306= Multiple submitters primary ciliary dyskinesia
  • p.Ile4117Val Multiple submitters primary ciliary dyskinesia
  • p.Ile4418= Multiple submitters primary ciliary dyskinesia
  • p.Leu1119= Multiple submitters primary ciliary dyskinesia
  • p.Leu1302= Multiple submitters primary ciliary dyskinesia
  • p.Leu1595= Multiple submitters primary ciliary dyskinesia
  • p.Leu1997= Multiple submitters primary ciliary dyskinesia
  • p.Leu2079Phe Multiple submitters primary ciliary dyskinesia
  • p.Leu2185= Multiple submitters primary ciliary dyskinesia
  • p.Leu2489= Multiple submitters primary ciliary dyskinesia
  • p.Leu2794= Multiple submitters primary ciliary dyskinesia
  • p.Leu3207= Multiple submitters primary ciliary dyskinesia
  • p.Leu3210= Multiple submitters primary ciliary dyskinesia
  • p.Leu3329= Multiple submitters primary ciliary dyskinesia
  • p.Leu3444= Multiple submitters primary ciliary dyskinesia
  • p.Leu3664= Multiple submitters primary ciliary dyskinesia
  • p.Leu3739= Multiple submitters primary ciliary dyskinesia
  • p.Leu3760= Multiple submitters primary ciliary dyskinesia
  • p.Leu4049= Multiple submitters primary ciliary dyskinesia
  • p.Leu4142= Multiple submitters primary ciliary dyskinesia
  • p.Leu4316= Multiple submitters primary ciliary dyskinesia
  • p.Leu433= Multiple submitters primary ciliary dyskinesia
  • p.Leu572= Multiple submitters primary ciliary dyskinesia
  • p.Leu840= Multiple submitters primary ciliary dyskinesia
  • p.Lys2739= Multiple submitters primary ciliary dyskinesia
  • p.Lys296= Multiple submitters primary ciliary dyskinesia
  • p.Lys3515= Multiple submitters primary ciliary dyskinesia
  • p.Lys3548= Multiple submitters primary ciliary dyskinesia
  • p.Lys741= Multiple submitters primary ciliary dyskinesia
  • p.Met1912Thr Multiple submitters primary ciliary dyskinesia
  • p.Phe1204= Multiple submitters primary ciliary dyskinesia
  • p.Phe1714= Multiple submitters primary ciliary dyskinesia
  • p.Phe2134= Multiple submitters primary ciliary dyskinesia
  • p.Phe2249= Multiple submitters primary ciliary dyskinesia
  • p.Phe2484= Multiple submitters primary ciliary dyskinesia
  • p.Phe3074= Multiple submitters primary ciliary dyskinesia
  • p.Phe4138= Multiple submitters primary ciliary dyskinesia
  • p.Pro1100= Multiple submitters primary ciliary dyskinesia
  • p.Pro1481= Multiple submitters primary ciliary dyskinesia
  • p.Pro2239Ser Multiple submitters primary ciliary dyskinesia
  • p.Pro2433= Multiple submitters primary ciliary dyskinesia
  • p.Pro2519= Multiple submitters primary ciliary dyskinesia
  • p.Pro2535= Multiple submitters primary ciliary dyskinesia
  • p.Pro2948Ser Multiple submitters primary ciliary dyskinesia
  • p.Pro307= Multiple submitters primary ciliary dyskinesia
  • p.Pro3934= Multiple submitters primary ciliary dyskinesia
  • p.Pro3978= Multiple submitters primary ciliary dyskinesia
  • p.Pro3978Leu Multiple submitters primary ciliary dyskinesia
  • p.Pro4055= Multiple submitters primary ciliary dyskinesia
  • p.Pro4279= Multiple submitters primary ciliary dyskinesia
  • p.Pro4341= Multiple submitters primary ciliary dyskinesia
  • p.Ser13= Multiple submitters primary ciliary dyskinesia
  • p.Ser1322= Multiple submitters primary ciliary dyskinesia
  • p.Ser1579= Multiple submitters primary ciliary dyskinesia
  • p.Ser169= Multiple submitters primary ciliary dyskinesia
  • p.Ser2043= Multiple submitters primary ciliary dyskinesia
  • p.Ser4293Asn Multiple submitters primary ciliary dyskinesia
  • p.Ser46= Multiple submitters primary ciliary dyskinesia
  • p.Thr116= Multiple submitters primary ciliary dyskinesia
  • p.Thr1627= Multiple submitters primary ciliary dyskinesia
  • p.Thr1965= Multiple submitters primary ciliary dyskinesia
  • p.Thr2054= Multiple submitters primary ciliary dyskinesia
  • p.Thr2066= Multiple submitters primary ciliary dyskinesia
  • p.Thr2319= Multiple submitters primary ciliary dyskinesia
  • p.Thr2544= Multiple submitters primary ciliary dyskinesia
  • p.Thr264= Multiple submitters primary ciliary dyskinesia
  • p.Thr2642Ala Multiple submitters primary ciliary dyskinesia
  • p.Thr2643= Multiple submitters primary ciliary dyskinesia
  • p.Thr2835= Multiple submitters primary ciliary dyskinesia
  • p.Thr3171Ser Multiple submitters primary ciliary dyskinesia 3
  • p.Thr3311= Multiple submitters primary ciliary dyskinesia
  • p.Thr3410= Multiple submitters primary ciliary dyskinesia
  • p.Thr3474= Multiple submitters primary ciliary dyskinesia
  • p.Thr3900= Multiple submitters primary ciliary dyskinesia
  • p.Thr4090= Multiple submitters primary ciliary dyskinesia
  • p.Thr4483= Multiple submitters primary ciliary dyskinesia
  • p.Thr939= Multiple submitters primary ciliary dyskinesia
  • p.Tyr1107= Multiple submitters primary ciliary dyskinesia
  • p.Tyr1281= Multiple submitters primary ciliary dyskinesia
  • p.Tyr1287= Multiple submitters primary ciliary dyskinesia
  • p.Tyr2000= Multiple submitters primary ciliary dyskinesia
  • p.Tyr2749= Multiple submitters primary ciliary dyskinesia
  • p.Tyr3766= Multiple submitters primary ciliary dyskinesia
  • p.Tyr3877= Multiple submitters primary ciliary dyskinesia
  • p.Tyr3987= Multiple submitters primary ciliary dyskinesia
  • p.Tyr4186= Multiple submitters primary ciliary dyskinesia
  • p.Tyr4210= Multiple submitters primary ciliary dyskinesia
  • p.Tyr537= Multiple submitters primary ciliary dyskinesia
  • p.Val1014Ile Multiple submitters primary ciliary dyskinesia
  • p.Val126= Multiple submitters primary ciliary dyskinesia
  • p.Val1316= Multiple submitters primary ciliary dyskinesia
  • p.Val1676= Multiple submitters primary ciliary dyskinesia
  • p.Val2128Ile Multiple submitters primary ciliary dyskinesia
  • p.Val2939Ile Multiple submitters primary ciliary dyskinesia
  • p.Val2955= Multiple submitters primary ciliary dyskinesia
  • p.Val3399= Multiple submitters primary ciliary dyskinesia
  • p.Val3594= Multiple submitters primary ciliary dyskinesia
  • p.Val3859= Multiple submitters primary ciliary dyskinesia
  • p.Val941Ile Multiple submitters primary ciliary dyskinesia
  • c.10101+11C>T Single submitter primary ciliary dyskinesia
  • c.10101+12A>G Single submitter primary ciliary dyskinesia
  • c.10101+171C>T Single submitter
  • c.10101+7A>C Single submitter primary ciliary dyskinesia
  • c.10101+7A>G Single submitter primary ciliary dyskinesia
  • c.10101+8G>A Single submitter primary ciliary dyskinesia
  • c.10102-10T>C Single submitter primary ciliary dyskinesia
  • c.10102-10T>G Single submitter primary ciliary dyskinesia
  • c.10102-15T>C Single submitter primary ciliary dyskinesia
  • c.10102-18T>C Single submitter primary ciliary dyskinesia
  • c.10102-22_10102-19del Single submitter primary ciliary dyskinesia
  • c.10102-4A>G Single submitter primary ciliary dyskinesia
  • c.10102-4del Single submitter primary ciliary dyskinesia
  • c.10102-5C>T Single submitter primary ciliary dyskinesia
  • c.10102-9C>G Single submitter primary ciliary dyskinesia
  • c.10102-9C>T Single submitter primary ciliary dyskinesia
  • c.10281+10C>G Single submitter primary ciliary dyskinesia
  • c.10281+12A>G Single submitter primary ciliary dyskinesia
  • c.10282-13G>A Single submitter primary ciliary dyskinesia
  • c.10282-14T>C Single submitter primary ciliary dyskinesia
  • c.10282-15G>A Single submitter primary ciliary dyskinesia
  • c.10282-17G>A Single submitter primary ciliary dyskinesia
  • c.10282-17GT[3] Single submitter primary ciliary dyskinesia
  • c.10282-18T>G Single submitter primary ciliary dyskinesia
  • c.10282-19C>G Single submitter primary ciliary dyskinesia
  • c.10282-7T>C Single submitter primary ciliary dyskinesia
  • c.10282-7T>G Single submitter primary ciliary dyskinesia
  • c.10282-8C>T Single submitter primary ciliary dyskinesia
  • c.10419+14G>C Single submitter primary ciliary dyskinesia
  • c.10419+14G>T Single submitter primary ciliary dyskinesia
  • c.10419+20G>A Single submitter primary ciliary dyskinesia
  • c.10419+7G>T Single submitter primary ciliary dyskinesia
  • c.10419+8C>T Single submitter primary ciliary dyskinesia
  • c.10420-10C>A Single submitter primary ciliary dyskinesia
  • c.10420-12G>A Single submitter primary ciliary dyskinesia
  • c.10420-13T>C Single submitter primary ciliary dyskinesia
  • c.10420-18G>A Single submitter primary ciliary dyskinesia
  • c.10420-18G>T Single submitter primary ciliary dyskinesia
  • c.10420-5G>A Single submitter primary ciliary dyskinesia
  • c.10420-5G>T Single submitter primary ciliary dyskinesia
  • c.10420-6del Single submitter primary ciliary dyskinesia
  • c.10420-9C>G Single submitter primary ciliary dyskinesia
  • c.10555+14T>A Single submitter primary ciliary dyskinesia
  • c.10555+15T>C Single submitter primary ciliary dyskinesia
  • c.10555+16T>A Single submitter primary ciliary dyskinesia
  • c.10555+17A>G Single submitter primary ciliary dyskinesia
  • c.10555+7A>T Single submitter primary ciliary dyskinesia
  • c.10555+9A>G Single submitter primary ciliary dyskinesia
  • c.10556-14G>A Single submitter primary ciliary dyskinesia
  • c.10556-17T>A Single submitter primary ciliary dyskinesia
  • c.10556-18G>C Single submitter primary ciliary dyskinesia
  • c.10556-7A>G Single submitter primary ciliary dyskinesia
  • c.10556-8T>A Single submitter primary ciliary dyskinesia
  • c.10556-9C>G Single submitter primary ciliary dyskinesia
  • c.10872+14T>C Single submitter primary ciliary dyskinesia
  • c.10872+15A>G Single submitter primary ciliary dyskinesia
  • c.10872+15A>T Single submitter primary ciliary dyskinesia
  • c.10872+16G>C Single submitter primary ciliary dyskinesia
  • c.10872+17T>C Single submitter primary ciliary dyskinesia
  • c.10872+19T>C Single submitter primary ciliary dyskinesia
  • c.10872+7T>A Single submitter primary ciliary dyskinesia
  • c.10872+8_10872+13del Single submitter primary ciliary dyskinesia
  • c.10872+9T>G Single submitter primary ciliary dyskinesia
  • c.10873-15T>C Single submitter primary ciliary dyskinesia
  • c.10873-16G>A Single submitter primary ciliary dyskinesia
  • c.10873-8G>A Single submitter primary ciliary dyskinesia
  • c.10873-8G>T Single submitter primary ciliary dyskinesia
  • c.10873-9T>C Single submitter primary ciliary dyskinesia
  • c.1089+10G>A Single submitter primary ciliary dyskinesia
  • c.1089+13T>C Single submitter primary ciliary dyskinesia
  • c.1089+18A>C Single submitter primary ciliary dyskinesia
  • c.1089+18A>G Single submitter primary ciliary dyskinesia
  • c.1089+19C>T Single submitter primary ciliary dyskinesia
  • c.1089+20T>C Single submitter primary ciliary dyskinesia
  • c.1090-165_1090-157del Single submitter
  • c.1090-16T>G Single submitter primary ciliary dyskinesia
  • c.1090-17T>C Single submitter primary ciliary dyskinesia
  • c.1090-7C>A Single submitter primary ciliary dyskinesia
  • c.1090-8T>A Single submitter primary ciliary dyskinesia
  • c.1090-9_1090-8del Single submitter primary ciliary dyskinesia
  • c.1090-9A>C Single submitter primary ciliary dyskinesia
  • c.1090-9A>G Single submitter primary ciliary dyskinesia
  • c.11028+11C>A Single submitter primary ciliary dyskinesia
  • c.11028+12C>G Single submitter primary ciliary dyskinesia
  • c.11028+12C>T Single submitter primary ciliary dyskinesia
  • c.11028+13T>G Single submitter primary ciliary dyskinesia

Uncertain significance 1453

Showing the top 300 by review status; the full set is in the sitemap.