RSPH9 — 235 ClinVar variants
All ClinVar germline RSPH9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
13 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 9 Conflicting · 21 Benign · 5 Benign/Likely benign · 72 Likely benign · 103 Uncertain significance
Full RSPH9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RSPH9 p.Arg171Gln
Conflicting
Single submitter
primary ciliary dyskinesia 12
-
RSPH9 p.Leu32Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Met33Thr
Conflicting
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Val141Met
Conflicting
Single submitter
primary ciliary dyskinesia
Predictors lean, ClinVar uncertain 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RSPH9 p.Ala150Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Ala94Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Arg139Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Arg240His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Arg254Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Asp4Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Glu110Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Glu129Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Lys100Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Lys223Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Met92Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Val263Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Ala158Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ala205Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ala235Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ala252Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ala26Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ala69Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg102His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg25Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg40Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg43Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg49Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 12
-
RSPH9 p.Asn269Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Asn269Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 12
-
RSPH9 p.Asp38Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia 12
-
RSPH9 p.Asp42Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Asp42His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Cys79Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RSPH9 p.Gln67Pro Uncertain significance Single submitter
-
RSPH9 p.Glu128Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Glu136Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Glu195Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Glu91Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RSPH9 p.Gly122Asp Uncertain significance Single submitter
-
RSPH9 p.Gly52Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.His168Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.His219Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ile130Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ile153Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Leu12Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Leu201Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Leu243Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RSPH9 p.Leu68Phe Uncertain significance Single submitter
-
RSPH9 p.Lys149Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Lys149Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Lys182Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Lys223Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Met104Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Met270Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Met270Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Met92Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Pro155Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Pro193Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Pro245Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Pro87Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ser16Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ser64Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Thr80Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Tyr41Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Val119Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Val151Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ile59Asn
Uncertain significance
No assertion criteria
RSPH9-related disorder
Predictors split 25
The independent predictors disagree with each other — read with care.
-
RSPH9 p.Glu129Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Glu267Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Glu91Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 12
-
RSPH9 p.Leu202Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 12
-
RSPH9 p.Met275Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 12
-
RSPH9 p.Ser83Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Ser9Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RSPH9 p.Arg102Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg171Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg254Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Arg37Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Glu11Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Glu121Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Glu180Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Glu218Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RSPH9 p.Gly122Ser Uncertain significance Single submitter
-
RSPH9 p.Gly157Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ile228Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Lys199Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Lys268Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 12
-
RSPH9 p.Pro193Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Ser97Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Thr200Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 12
-
RSPH9 p.Thr248Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RSPH9 p.Trp226Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
All RSPH9 variants
Pathogenic 13
- p.Arg156Ter Multiple submitters RSPH9-related disorder
- p.Tyr39Ter Multiple submitters primary ciliary dyskinesia
- p.Gln67fs Single submitter primary ciliary dyskinesia
- p.Gln95Ter Single submitter primary ciliary dyskinesia
- p.Glu192fs Single submitter primary ciliary dyskinesia
- p.Glu267fs Single submitter primary ciliary dyskinesia 12
- p.Glu267Ter Single submitter primary ciliary dyskinesia
- p.Met1Leu Single submitter primary ciliary dyskinesia
- p.Met1Thr Single submitter primary ciliary dyskinesia
- p.Met1Val Single submitter primary ciliary dyskinesia
- p.Trp82Ter Single submitter primary ciliary dyskinesia
- p.Tyr111Ter Single submitter
- p.Gln18Ter No assertion criteria primary ciliary dyskinesia 12
Pathogenic/Likely pathogenic 2
- p.Lys268del Multiple submitters primary ciliary dyskinesia
- p.Val44fs Multiple submitters primary ciliary dyskinesia
Likely pathogenic 10
- c.228-6T>A Single submitter primary ciliary dyskinesia
- c.393+1G>A Single submitter primary ciliary dyskinesia
- c.393+2del Single submitter primary ciliary dyskinesia
- c.523+1G>C Single submitter primary ciliary dyskinesia
- p.Cys79Ter Single submitter combined immunodeficiency with skin granulomas
- p.His251Arg Single submitter RSPH9-related disorder
- p.Leu7fs Single submitter primary ciliary dyskinesia 12
- p.Trp226Ter Single submitter RSPH9-related disorder
- p.Val98fs Single submitter RSPH9-related disorder
- p.Trp82fs No assertion criteria primary ciliary dyskinesia
Conflicting classifications of pathogenicity 9
- c.393+13G>A Single submitter primary ciliary dyskinesia
- p.Arg171Gln Single submitter primary ciliary dyskinesia 12 ⚠
- p.Arg240= Single submitter primary ciliary dyskinesia
- p.Gly266= Single submitter primary ciliary dyskinesia
- p.Leu32Pro Single submitter primary ciliary dyskinesia ⚠
- p.Met33Thr Single submitter primary ciliary dyskinesia ⚠
- p.Pro245= Single submitter primary ciliary dyskinesia
- p.Pro273= Single submitter primary ciliary dyskinesia 12
- p.Val141Met Single submitter primary ciliary dyskinesia ⚠
Benign 21
- c.227+118G>A Single submitter
- c.227+14dup Single submitter primary ciliary dyskinesia
- c.227+271del Single submitter
- c.227+271dup Single submitter
- c.227+42C>T Single submitter
- c.228-102C>T Single submitter
- c.228-117A>G Single submitter
- c.228-86C>T Single submitter
- c.394-157A>C Single submitter
- c.394-185C>T Single submitter
- c.394-197C>T Single submitter
- c.523+298CTTC[10] Single submitter
- c.523+298CTTC[11] Single submitter
- c.523+298CTTC[13] Single submitter
- c.523+298CTTC[14] Single submitter
- c.523+301C>G Single submitter
- c.524-229A>C Single submitter
- c.524-263G>A Single submitter
- c.671-4152C>T Single submitter
- c.671-41C>A Single submitter
- c.671-4325G>A Single submitter primary ciliary dyskinesia 12
Benign/Likely benign 5
- c.671-4259C>T Multiple submitters primary ciliary dyskinesia 12
- c.-18A>G Multiple submitters primary ciliary dyskinesia 12
- p.Ala88Val Multiple submitters primary ciliary dyskinesia
- p.Val125Leu Multiple submitters primary ciliary dyskinesia
- p.Val261Ile Multiple submitters primary ciliary dyskinesia
Likely benign 72
- c.227+9G>T Multiple submitters primary ciliary dyskinesia
- p.Ala94= Multiple submitters primary ciliary dyskinesia
- p.Arg232= Multiple submitters primary ciliary dyskinesia
- p.Arg254= Multiple submitters primary ciliary dyskinesia
- p.Asp66= Multiple submitters primary ciliary dyskinesia
- p.His219= Multiple submitters primary ciliary dyskinesia
- p.Leu239= Multiple submitters primary ciliary dyskinesia
- p.Leu45= Multiple submitters primary ciliary dyskinesia
- p.Ser96= Multiple submitters primary ciliary dyskinesia
- p.Tyr109= Multiple submitters primary ciliary dyskinesia
- p.Tyr260= Multiple submitters primary ciliary dyskinesia
- p.Tyr262= Multiple submitters primary ciliary dyskinesia
- c.227+14_227+19del Single submitter
- c.227+14C>T Single submitter primary ciliary dyskinesia
- c.227+15G>A Single submitter primary ciliary dyskinesia
- c.227+15G>T Single submitter primary ciliary dyskinesia
- c.227+17G>C Single submitter primary ciliary dyskinesia
- c.227+20G>A Single submitter primary ciliary dyskinesia
- c.228-8G>T Single submitter primary ciliary dyskinesia
- c.393+11A>C Single submitter primary ciliary dyskinesia
- c.393+220G>A Single submitter
- c.523+10C>G Single submitter primary ciliary dyskinesia
- c.523+17C>T Single submitter primary ciliary dyskinesia
- c.523+19C>T Single submitter primary ciliary dyskinesia
- c.523+220A>G Single submitter
- c.524-164C>T Single submitter
- c.524-17C>T Single submitter primary ciliary dyskinesia
- c.670+16C>T Single submitter primary ciliary dyskinesia
- c.671-104T>C Single submitter
- c.671-10C>T Single submitter primary ciliary dyskinesia
- c.671-4327C>T Single submitter
- c.671-4348C>G Single submitter
- c.671-4T>G Single submitter primary ciliary dyskinesia
- c.671-5C>T Single submitter primary ciliary dyskinesia
- c.671-8T>C Single submitter primary ciliary dyskinesia
- p.Ala3= Single submitter primary ciliary dyskinesia
- p.Arg24= Single submitter primary ciliary dyskinesia
- p.Arg43= Single submitter primary ciliary dyskinesia
- p.Arg71= Single submitter primary ciliary dyskinesia
- p.Asn234= Single submitter
- p.Asp208= Single submitter
- p.Asp271= Single submitter primary ciliary dyskinesia
- p.Asp4= Single submitter primary ciliary dyskinesia
- p.Glu110= Single submitter primary ciliary dyskinesia
- p.Glu195= Single submitter primary ciliary dyskinesia
- p.Glu231= Single submitter primary ciliary dyskinesia
- p.Gly157= Single submitter primary ciliary dyskinesia
- p.His168= Single submitter primary ciliary dyskinesia
- p.His251= Single submitter primary ciliary dyskinesia
- p.Ile153= Single submitter primary ciliary dyskinesia
- p.Leu211= Single submitter primary ciliary dyskinesia
- p.Leu242= Single submitter primary ciliary dyskinesia
- p.Leu28= Single submitter primary ciliary dyskinesia
- p.Leu53= Single submitter primary ciliary dyskinesia
- p.Leu6= Single submitter primary ciliary dyskinesia
- p.Leu68= Single submitter primary ciliary dyskinesia
- p.Leu85= Single submitter primary ciliary dyskinesia
- p.Lys135= Single submitter primary ciliary dyskinesia
- p.Lys36= Single submitter
- p.Phe164= Single submitter primary ciliary dyskinesia
- p.Phe249Ile Single submitter primary ciliary dyskinesia
- p.Phe249Ser Single submitter primary ciliary dyskinesia
- p.Phe249Thr Single submitter primary ciliary dyskinesia
- p.Pro166= Single submitter primary ciliary dyskinesia
- p.Pro22= Single submitter primary ciliary dyskinesia
- p.Pro253= Single submitter primary ciliary dyskinesia
- p.Ser9= Single submitter primary ciliary dyskinesia
- p.Thr200= Single submitter
- p.Thr248= Single submitter primary ciliary dyskinesia
- p.Thr265= Single submitter primary ciliary dyskinesia
- p.Val93Leu Single submitter familial acute necrotizing encephalopathy
- p.Gly259= No assertion criteria RSPH9-related disorder
Uncertain significance 103
- c.228-10T>G Multiple submitters primary ciliary dyskinesia 12
- p.Ala150Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala94Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg139Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg139His Multiple submitters primary ciliary dyskinesia
- p.Arg240Cys Multiple submitters primary ciliary dyskinesia
- p.Arg240His Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg254Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg40Cys Multiple submitters primary ciliary dyskinesia
- p.Asp4Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu110Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu129Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu129Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu267Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu91Gly Multiple submitters primary ciliary dyskinesia 12 ⚠
- p.Leu202Arg Multiple submitters primary ciliary dyskinesia 12 ⚠
- p.Leu53_Tyr58del Multiple submitters primary ciliary dyskinesia 12
- p.Lys100Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys223Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Met275Ile Multiple submitters primary ciliary dyskinesia 12 ⚠
- p.Met92Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro253Ser Multiple submitters primary ciliary dyskinesia
- p.Ser83Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser9Pro Multiple submitters primary ciliary dyskinesia ⚠
- p.Val263Met Multiple submitters primary ciliary dyskinesia ⚠
- c.*13C>A Single submitter primary ciliary dyskinesia 12
- c.*30AG[1] Single submitter
- p.Ala158Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala205Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala235Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala252Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala26Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala69Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg102Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg102His Single submitter primary ciliary dyskinesia ⚠
- p.Arg171Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg254Pro Single submitter primary ciliary dyskinesia ⚠
- p.Arg25Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg37Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg40Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg43Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg49Leu Single submitter primary ciliary dyskinesia 12 ⚠
- p.Asn269Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn269Ile Single submitter primary ciliary dyskinesia 12 ⚠
- p.Asp38Tyr Single submitter primary ciliary dyskinesia 12 ⚠
- p.Asp42Glu Single submitter primary ciliary dyskinesia ⚠
- p.Asp42His Single submitter primary ciliary dyskinesia ⚠
- p.Cys79Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln67Pro Single submitter ⚠
- p.Glu11Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu121Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu128Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu136Gln Single submitter primary ciliary dyskinesia ⚠
- p.Glu180Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu195Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu218Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu91Gln Single submitter primary ciliary dyskinesia ⚠
- p.Gly122Asp Single submitter ⚠
- p.Gly122Ser Single submitter ⚠
- p.Gly157Ala Single submitter primary ciliary dyskinesia ⚠
- p.Gly52Cys Single submitter primary ciliary dyskinesia ⚠
- p.His168Pro Single submitter primary ciliary dyskinesia ⚠
- p.His219Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile130Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile134Thr Single submitter primary ciliary dyskinesia
- p.Ile153Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ile228Thr Single submitter primary ciliary dyskinesia ⚠
- p.Leu12Pro Single submitter primary ciliary dyskinesia ⚠
- p.Leu201Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu243Phe Single submitter primary ciliary dyskinesia ⚠
- p.Leu68Phe Single submitter ⚠
- p.Lys149Asn Single submitter primary ciliary dyskinesia ⚠
- p.Lys149Glu Single submitter primary ciliary dyskinesia ⚠
- p.Lys161Glu Single submitter primary ciliary dyskinesia
- p.Lys182Arg Single submitter primary ciliary dyskinesia ⚠
- p.Lys197del Single submitter primary ciliary dyskinesia
- p.Lys199Met Single submitter primary ciliary dyskinesia ⚠
- p.Lys223Thr Single submitter primary ciliary dyskinesia ⚠
- p.Lys268Asn Single submitter primary ciliary dyskinesia 12 ⚠
- p.Met104Ile Single submitter primary ciliary dyskinesia ⚠
- p.Met270Leu Single submitter primary ciliary dyskinesia ⚠
- p.Met270Thr Single submitter primary ciliary dyskinesia ⚠
- p.Met275Asn Single submitter
- p.Met92Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro155Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro193Ala Single submitter primary ciliary dyskinesia ⚠
- p.Pro193Ser Single submitter primary ciliary dyskinesia ⚠
- p.Pro245Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro87Arg Single submitter primary ciliary dyskinesia ⚠
- p.Ser16Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ser216= Single submitter primary ciliary dyskinesia 12
- p.Ser64Asn Single submitter primary ciliary dyskinesia ⚠
- p.Ser97Phe Single submitter primary ciliary dyskinesia ⚠
- p.Ser9Ala Single submitter primary ciliary dyskinesia
- p.Ter277Trp Single submitter primary ciliary dyskinesia
- p.Thr200Ala Single submitter primary ciliary dyskinesia 12 ⚠
- p.Thr248Asn Single submitter primary ciliary dyskinesia ⚠
- p.Thr80Ile Single submitter primary ciliary dyskinesia ⚠
- p.Trp226Cys Single submitter primary ciliary dyskinesia ⚠
- p.Tyr41Cys Single submitter primary ciliary dyskinesia ⚠
- p.Val119Met Single submitter primary ciliary dyskinesia ⚠
- p.Val151Met Single submitter primary ciliary dyskinesia ⚠
- p.Ile59Asn No assertion criteria RSPH9-related disorder ⚠