RSPH3 — 358 ClinVar variants
All ClinVar germline RSPH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →
20 Pathogenic · 4 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 7 Conflicting · 25 Benign · 12 Benign/Likely benign · 125 Likely benign · 159 Uncertain significance
Full RSPH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 158
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RSPH3 c.-386A>G
Conflicting
Single submitter
Inborn genetic diseases
-
RSPH3 p.Arg125His
Conflicting
Single submitter
Inborn genetic diseases
-
RSPH3 p.Arg369Gln
Conflicting
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Arg53Gly
Conflicting
Single submitter
Inborn genetic diseases
-
RSPH3 p.Gly70Arg
Conflicting
Single submitter
Inborn genetic diseases
-
RSPH3 p.His331Arg
Conflicting
Single submitter
primary ciliary dyskinesia 32
Predictors lean, ClinVar uncertain 123
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RSPH3 c.-10G>T
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 c.-120C>A
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 c.-185G>A
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 c.-198G>A
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 c.-345G>C
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 c.-351G>A
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 c.-384C>T
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 c.-48T>A
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 c.-9C>T
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Ala4Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg215His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg234Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg261Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg57Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Gly347Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Ile184Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Ile284Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Leu314Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Leu361Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Leu69Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Met304Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Phe168Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Ser30Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Ser387Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Ser74Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Thr381Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Thr9Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Val218Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 c.-104C>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-126C>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-134T>C
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-135T>G
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-138C>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-203G>C
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-219G>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-219G>T
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-222C>T
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-224C>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-224C>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-225G>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-231G>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-238G>C
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-260C>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-261C>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-276C>G
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-278G>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-288G>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-288G>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-293C>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-2A>C
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-306C>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-321C>T
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-337T>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-345G>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-347C>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-356G>T
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-357G>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-362A>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-374G>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-374G>C
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-375C>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-381G>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-383T>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-389G>C
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-396C>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-401C>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 c.-404C>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-405G>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-414C>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-422C>A
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-81C>G
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 c.-84C>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Ala137Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Ala157Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Ala24Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Ala264Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Ala407Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Ala407Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Arg211Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Arg215Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Arg229Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Arg86Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Asp112Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Asp169Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Gln260His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Glu103Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Glu177Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Glu362Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Gly153Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Gly310Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Gly413Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.His244Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.His331Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.His45Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Ile126Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Ile160Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Leu146Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Leu179Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Leu210Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Leu317Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Leu399Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Leu63Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Leu68Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Lys182Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Met1Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Met394Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Met50Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Phe271Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Phe360Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Pro142Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Pro339Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Pro345Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Ser273Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Ser307Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Thr183Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Thr183Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Thr303Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Thr312Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Thr335Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Thr382Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Thr60Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Tyr329Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Val55Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
Predictors split 29
The independent predictors disagree with each other — read with care.
-
RSPH3 p.Arg205His
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg211Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg220Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Arg256Gln
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg275Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Arg319Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg71Trp
Benign
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Arg81Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Asn212Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Asn59Ser
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Ile122Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Leu267Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Met297Thr
Benign/Likely benign
Multiple submitters
primary ciliary dyskinesia 32
-
RSPH3 p.Val191Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RSPH3 p.Ala87Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Arg201Gln
Likely benign
Single submitter
Inborn genetic diseases
-
RSPH3 p.Arg235Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Arg275Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Glu177Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
- RSPH3 p.Glu177Gln Uncertain significance Single submitter
-
RSPH3 p.Glu223Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Glu233Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Glu248Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Ile49Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Leu210Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RSPH3 p.Thr183Ile
Conflicting
Single submitter
Inborn genetic diseases
- RSPH3 p.Tyr118His Uncertain significance Single submitter
-
RSPH3 p.Tyr207Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
-
RSPH3 p.Val105Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 32
All RSPH3 variants
Pathogenic 20
- c.205-2A>G Multiple submitters RSPH3-related disorder
- c.-95G>A Multiple submitters primary ciliary dyskinesia 32
- c.859+1G>A Single submitter primary ciliary dyskinesia 32
- c.-143del Single submitter primary ciliary dyskinesia 32
- c.-220del Single submitter primary ciliary dyskinesia 32
- c.-261_-260del Single submitter primary ciliary dyskinesia 32
- c.-273G>T Single submitter primary ciliary dyskinesia 32
- c.-292del Single submitter primary ciliary dyskinesia 32
- c.-417A>T Single submitter primary ciliary dyskinesia 32
- c.-5del Single submitter primary ciliary dyskinesia 32
- c.-88_-86del Single submitter primary ciliary dyskinesia 32
- p.Arg229Ter Single submitter primary ciliary dyskinesia 32
- p.Arg256Ter Single submitter primary ciliary dyskinesia 32
- p.Arg275fs Single submitter primary ciliary dyskinesia 32
- p.Arg57Ter Single submitter primary ciliary dyskinesia 32
- p.His110fs Single submitter primary ciliary dyskinesia 32
- p.Thr152fs Single submitter primary ciliary dyskinesia 32
- p.Arg227Ter No assertion criteria primary ciliary dyskinesia 32
- p.Asn298fs No assertion criteria primary ciliary dyskinesia 32
- p.Gln64Ter No assertion criteria primary ciliary dyskinesia 32
Pathogenic/Likely pathogenic 4
- c.859+1G>T Multiple submitters primary ciliary dyskinesia 32
- c.-207TG[1] Multiple submitters primary ciliary dyskinesia 32
- c.-260dup Multiple submitters primary ciliary dyskinesia 32
- c.-302_-301del Multiple submitters RSPH3-related disorder
Likely pathogenic 6
- p.Gln94Ter Multiple submitters primary ciliary dyskinesia 32
- c.346+1del Single submitter primary ciliary dyskinesia 32
- c.346+1G>T Single submitter primary ciliary dyskinesia 32
- p.Arg220Ter Single submitter RSPH3-related disorder
- p.Pro72fs Single submitter
- c.-85dup No assertion criteria RSPH3-related disorder
Conflicting classifications of pathogenicity 7
- c.-386A>G Single submitter Inborn genetic diseases ⚠
- p.Arg125His Single submitter Inborn genetic diseases ⚠
- p.Arg369Gln Single submitter primary ciliary dyskinesia 32 ⚠
- p.Arg53Gly Single submitter Inborn genetic diseases ⚠
- p.Gly70Arg Single submitter Inborn genetic diseases ⚠
- p.His331Arg Single submitter primary ciliary dyskinesia 32 ⚠
- p.Thr183Ile Single submitter Inborn genetic diseases ⚠
Benign 25
- p.Ala12Val Multiple submitters primary ciliary dyskinesia 32
- p.Arg319His Multiple submitters primary ciliary dyskinesia 32
- p.Arg71Trp Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg81= Multiple submitters primary ciliary dyskinesia 32
- p.Gln379Arg Multiple submitters primary ciliary dyskinesia 32
- p.Glu398= Multiple submitters primary ciliary dyskinesia 32
- p.Gly47= Multiple submitters primary ciliary dyskinesia 32
- p.Leu355= Multiple submitters primary ciliary dyskinesia 32
- p.Pro13Arg Multiple submitters primary ciliary dyskinesia 32
- p.Ser3= Multiple submitters primary ciliary dyskinesia 32
- c.204+184C>G Single submitter
- c.204+263G>A Single submitter
- c.204+28C>T Single submitter
- c.204+60G>A Single submitter
- c.346+104C>A Single submitter
- c.347-148C>T Single submitter
- c.347-23G>A Single submitter
- c.347-320G>A Single submitter
- c.347-78C>G Single submitter
- c.493-218G>A Single submitter
- c.859+301C>T Single submitter
- c.860-288T>C Single submitter
- c.946+95T>C Single submitter
- c.947-107T>C Single submitter
- p.Pro268= Single submitter primary ciliary dyskinesia 32
Benign/Likely benign 12
- c.116+14C>T Multiple submitters primary ciliary dyskinesia 32
- c.205-13C>T Multiple submitters primary ciliary dyskinesia 32
- c.-220C>A Multiple submitters primary ciliary dyskinesia 32
- p.Arg256Gln Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg71Gln Multiple submitters primary ciliary dyskinesia 32
- p.Arg81Gln Multiple submitters primary ciliary dyskinesia 32
- p.Asn59Ser Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Glu342Lys Multiple submitters primary ciliary dyskinesia 32
- p.Gly376Asp Multiple submitters primary ciliary dyskinesia 32
- p.His331Pro Multiple submitters primary ciliary dyskinesia 32
- p.Met297Thr Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Thr101= Multiple submitters primary ciliary dyskinesia 32
Likely benign 125
- c.204+16A>G Multiple submitters primary ciliary dyskinesia 32
- c.946+8A>G Multiple submitters primary ciliary dyskinesia 32
- c.-136C>T Multiple submitters primary ciliary dyskinesia 32
- c.-153C>T Multiple submitters primary ciliary dyskinesia 32
- c.-19A>T Multiple submitters primary ciliary dyskinesia 32
- c.-217A>C Multiple submitters primary ciliary dyskinesia 32
- c.-304T>G Multiple submitters primary ciliary dyskinesia 32
- c.-337T>C Multiple submitters primary ciliary dyskinesia 32
- c.-601G>T Multiple submitters
- p.Arg325= Multiple submitters primary ciliary dyskinesia 32
- p.Gln186= Multiple submitters primary ciliary dyskinesia 32
- p.Leu326= Multiple submitters primary ciliary dyskinesia 32
- p.Pro104Arg Multiple submitters primary ciliary dyskinesia 32
- c.116+12A>T Single submitter primary ciliary dyskinesia 32
- c.116+7G>A Single submitter primary ciliary dyskinesia 32
- c.117-19A>G Single submitter primary ciliary dyskinesia 32
- c.117-297A>G Single submitter
- c.204+18A>G Single submitter primary ciliary dyskinesia 32
- c.204+204G>A Single submitter
- c.204+20T>C Single submitter primary ciliary dyskinesia 32
- c.205-11A>G Single submitter primary ciliary dyskinesia 32
- c.205-5G>T Single submitter primary ciliary dyskinesia 32
- c.205-8del Single submitter primary ciliary dyskinesia 32
- c.346+10T>C Single submitter primary ciliary dyskinesia 32
- c.346+14C>T Single submitter primary ciliary dyskinesia 32
- c.346+17T>C Single submitter primary ciliary dyskinesia 32
- c.347-11del Single submitter primary ciliary dyskinesia 32
- c.347-16A>G Single submitter primary ciliary dyskinesia 32
- c.347-314C>T Single submitter
- c.697-11G>A Single submitter primary ciliary dyskinesia 32
- c.697-12C>T Single submitter primary ciliary dyskinesia 32
- c.697-229_697-228insTGAAA Single submitter
- c.697-269T>C Single submitter
- c.697-9del Single submitter primary ciliary dyskinesia 32
- c.859+219T>G Single submitter
- c.859+7A>G Single submitter primary ciliary dyskinesia 32
- c.860-12C>A Single submitter primary ciliary dyskinesia 32
- c.860-19A>G Single submitter primary ciliary dyskinesia 32
- c.860-280G>A Single submitter
- c.946+12T>C Single submitter primary ciliary dyskinesia 32
- c.946+13A>G Single submitter primary ciliary dyskinesia 32
- c.946+20A>T Single submitter primary ciliary dyskinesia 32
- c.947-13T>C Single submitter
- c.947-15C>T Single submitter primary ciliary dyskinesia 32
- c.947-7T>C Single submitter primary ciliary dyskinesia 32
- c.-103T>C Single submitter
- c.-109G>A Single submitter primary ciliary dyskinesia 32
- c.-10G>A Single submitter primary ciliary dyskinesia 32
- c.-115G>C Single submitter primary ciliary dyskinesia 32
- c.-151G>T Single submitter primary ciliary dyskinesia 32
- c.-160T>C Single submitter primary ciliary dyskinesia 32
- c.-16C>G Single submitter primary ciliary dyskinesia 32
- c.-190G>A Single submitter primary ciliary dyskinesia 32
- c.-196G>C Single submitter primary ciliary dyskinesia 32
- c.-19A>G Single submitter primary ciliary dyskinesia 32
- c.-201G>C Single submitter primary ciliary dyskinesia 32
- c.-208C>T Single submitter primary ciliary dyskinesia 32
- c.-211T>C Single submitter primary ciliary dyskinesia 32
- c.-218C>T Single submitter primary ciliary dyskinesia 32
- c.-223C>T Single submitter Inborn genetic diseases
- c.-224C>G Single submitter Inborn genetic diseases
- c.-232C>G Single submitter primary ciliary dyskinesia 32
- c.-250C>T Single submitter primary ciliary dyskinesia 32
- c.-259A>T Single submitter primary ciliary dyskinesia 32
- c.-274G>A Single submitter primary ciliary dyskinesia 32
- c.-275C>A Single submitter
- c.-292T>C Single submitter primary ciliary dyskinesia 32
- c.-304T>C Single submitter primary ciliary dyskinesia 32
- c.-310A>C Single submitter primary ciliary dyskinesia 32
- c.-313C>A Single submitter primary ciliary dyskinesia 32
- c.-313C>G Single submitter primary ciliary dyskinesia 32
- c.-343G>A Single submitter primary ciliary dyskinesia 32
- c.-358G>C Single submitter primary ciliary dyskinesia 32
- c.-360C>T Single submitter primary ciliary dyskinesia 32
- c.-396C>T Single submitter primary ciliary dyskinesia 32
- c.-418C>G Single submitter primary ciliary dyskinesia 32
- c.-421G>A Single submitter primary ciliary dyskinesia 32
- c.-433C>T Single submitter
- c.-70C>T Single submitter primary ciliary dyskinesia 32
- c.-76C>T Single submitter primary ciliary dyskinesia 32
- p.Ala216= Single submitter primary ciliary dyskinesia 32
- p.Ala24= Single submitter primary ciliary dyskinesia 32
- p.Ala254= Single submitter primary ciliary dyskinesia 32
- p.Ala259= Single submitter primary ciliary dyskinesia 32
- p.Ala4= Single submitter
- p.Arg125Cys Single submitter primary ciliary dyskinesia 32
- p.Arg201Gln Single submitter Inborn genetic diseases ⚠
- p.Asn247= Single submitter primary ciliary dyskinesia 32
- p.Asn59= Single submitter primary ciliary dyskinesia 32
- p.Asp112= Single submitter primary ciliary dyskinesia 32
- p.Asp130= Single submitter primary ciliary dyskinesia 32
- p.Asp265= Single submitter primary ciliary dyskinesia 32
- p.Asp334Glu Single submitter Inborn genetic diseases
- p.Asp403Asn Single submitter primary ciliary dyskinesia 32
- p.Gln239= Single submitter primary ciliary dyskinesia 32
- p.Gln260= Single submitter primary ciliary dyskinesia 32
- p.Gln96= Single submitter primary ciliary dyskinesia 32
- p.Glu194= Single submitter
- p.Glu206= Single submitter primary ciliary dyskinesia 32
- p.Glu222= Single submitter primary ciliary dyskinesia 32
- p.Glu370= Single submitter primary ciliary dyskinesia 32
- p.Glu414= Single submitter primary ciliary dyskinesia 32
- p.Glu414Lys Single submitter Inborn genetic diseases
- p.Glu95= Single submitter primary ciliary dyskinesia 32
- p.Gly181= Single submitter primary ciliary dyskinesia 32
- p.Gly346= Single submitter primary ciliary dyskinesia 32
- p.Gly349= Single submitter primary ciliary dyskinesia 32
- p.Gly401= Single submitter primary ciliary dyskinesia 32
- p.Ile288= Single submitter primary ciliary dyskinesia 32
- p.Leu139= Single submitter primary ciliary dyskinesia 32
- p.Leu161= Single submitter primary ciliary dyskinesia 32
- p.Leu197= Single submitter primary ciliary dyskinesia 32
- p.Leu263= Single submitter primary ciliary dyskinesia 32
- p.Leu69= Single submitter primary ciliary dyskinesia 32
- p.Pro102= Single submitter
- p.Pro22= Single submitter primary ciliary dyskinesia 32
- p.Pro294= Single submitter primary ciliary dyskinesia 32
- p.Ser277Gly Single submitter Inborn genetic diseases
- p.Thr249= Single submitter primary ciliary dyskinesia 32
- p.Thr382= Single submitter primary ciliary dyskinesia 32
- p.Thr406= Single submitter primary ciliary dyskinesia 32
- p.Tyr207= Single submitter primary ciliary dyskinesia 32
- p.Tyr383= Single submitter primary ciliary dyskinesia 32
- c.-292T>A No assertion criteria RSPH3-related disorder
- p.Ser411= No assertion criteria RSPH3-related disorder
Uncertain significance 159
- c.859+5G>A Multiple submitters primary ciliary dyskinesia 32
- c.-10G>T Multiple submitters Inborn genetic diseases ⚠
- c.-120C>A Multiple submitters primary ciliary dyskinesia 32 ⚠
- c.-185G>A Multiple submitters Inborn genetic diseases ⚠
- c.-198G>A Multiple submitters primary ciliary dyskinesia 32 ⚠
- c.-345G>C Multiple submitters primary ciliary dyskinesia 32 ⚠
- c.-351G>A Multiple submitters Inborn genetic diseases ⚠
- c.-384C>T Multiple submitters primary ciliary dyskinesia 32 ⚠
- c.-48T>A Multiple submitters primary ciliary dyskinesia 32 ⚠
- c.-9C>T Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Ala255Thr Multiple submitters primary ciliary dyskinesia 32
- p.Ala4Thr Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg205His Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg211Trp Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg215His Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg220Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg234Gln Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg235His Multiple submitters Inborn genetic diseases
- p.Arg261Cys Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg275Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg319Cys Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg57Gln Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Arg81Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn212Lys Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Gly347Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ile122Thr Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Ile184Met Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Ile284Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu267Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu314Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu361Arg Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Leu69Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met304Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe168Leu Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Ser30Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser387Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser74Cys Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Thr381Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr9Asn Multiple submitters primary ciliary dyskinesia 32 ⚠
- p.Val191Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val218Ala Multiple submitters Inborn genetic diseases ⚠
- c.116+3G>A Single submitter primary ciliary dyskinesia 32
- c.492+4C>T Single submitter primary ciliary dyskinesia 32
- c.493-8T>A Single submitter primary ciliary dyskinesia 32
- c.947-9A>G Single submitter
- c.-104C>A Single submitter Inborn genetic diseases ⚠
- c.-126C>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-134T>C Single submitter Inborn genetic diseases ⚠
- c.-135T>G Single submitter Inborn genetic diseases ⚠
- c.-138C>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-203G>C Single submitter primary ciliary dyskinesia 32 ⚠
- c.-219G>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-219G>T Single submitter primary ciliary dyskinesia 32 ⚠
- c.-222C>T Single submitter primary ciliary dyskinesia 32 ⚠
- c.-224C>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-224C>T Single submitter Inborn genetic diseases ⚠
- c.-225G>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-231G>A Single submitter Inborn genetic diseases ⚠
- c.-238G>C Single submitter Inborn genetic diseases ⚠
- c.-260C>A Single submitter Inborn genetic diseases ⚠
- c.-261C>A Single submitter Inborn genetic diseases ⚠
- c.-276C>G Single submitter Inborn genetic diseases ⚠
- c.-278G>T Single submitter Inborn genetic diseases ⚠
- c.-288G>A Single submitter Inborn genetic diseases ⚠
- c.-288G>T Single submitter Inborn genetic diseases ⚠
- c.-293C>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-2A>C Single submitter Inborn genetic diseases ⚠
- c.-306C>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-321C>T Single submitter primary ciliary dyskinesia 32 ⚠
- c.-337T>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-345G>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-347C>A Single submitter Inborn genetic diseases ⚠
- c.-356G>T Single submitter primary ciliary dyskinesia 32 ⚠
- c.-357G>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-362A>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-374G>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-374G>C Single submitter primary ciliary dyskinesia 32 ⚠
- c.-375C>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-381G>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-383T>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-389G>C Single submitter primary ciliary dyskinesia 32 ⚠
- c.-396C>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-401C>A Single submitter Inborn genetic diseases ⚠
- c.-404C>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-405G>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-414C>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-422C>A Single submitter primary ciliary dyskinesia 32 ⚠
- c.-81C>G Single submitter primary ciliary dyskinesia 32 ⚠
- c.-84C>T Single submitter Inborn genetic diseases ⚠
- p.Ala137Val Single submitter Inborn genetic diseases ⚠
- p.Ala157Pro Single submitter primary ciliary dyskinesia 32 ⚠
- p.Ala24Thr Single submitter Inborn genetic diseases ⚠
- p.Ala264Val Single submitter primary ciliary dyskinesia 32 ⚠
- p.Ala350delinsGlyPro Single submitter primary ciliary dyskinesia 32
- p.Ala350fs Single submitter primary ciliary dyskinesia 32
- p.Ala407Thr Single submitter primary ciliary dyskinesia 32 ⚠
- p.Ala407Val Single submitter Inborn genetic diseases ⚠
- p.Ala87Gly Single submitter Inborn genetic diseases ⚠
- p.Arg211Gln Single submitter Inborn genetic diseases ⚠
- p.Arg215Cys Single submitter Inborn genetic diseases ⚠
- p.Arg229Gln Single submitter primary ciliary dyskinesia 32 ⚠
- p.Arg235Cys Single submitter primary ciliary dyskinesia 32 ⚠
- p.Arg275Gly Single submitter Inborn genetic diseases ⚠
- p.Arg86Lys Single submitter Inborn genetic diseases ⚠
- p.Asn247del Single submitter primary ciliary dyskinesia 32
- p.Asp112Asn Single submitter Inborn genetic diseases ⚠
- p.Asp169Gly Single submitter Inborn genetic diseases ⚠
- p.Gln260His Single submitter Inborn genetic diseases ⚠
- p.Glu103Gly Single submitter primary ciliary dyskinesia 32 ⚠
- p.Glu177Asp Single submitter primary ciliary dyskinesia 32 ⚠
- p.Glu177Gln Single submitter ⚠
- p.Glu177Lys Single submitter primary ciliary dyskinesia 32 ⚠
- p.Glu223Gln Single submitter Inborn genetic diseases ⚠
- p.Glu233Gly Single submitter Inborn genetic diseases ⚠
- p.Glu248Ala Single submitter Inborn genetic diseases ⚠
- p.Glu362Asp Single submitter primary ciliary dyskinesia 32 ⚠
- p.Gly153Asp Single submitter primary ciliary dyskinesia 32 ⚠
- p.Gly310Arg Single submitter Inborn genetic diseases ⚠
- p.Gly413Arg Single submitter primary ciliary dyskinesia 32 ⚠
- p.His244Gln Single submitter primary ciliary dyskinesia 32 ⚠
- p.His331Leu Single submitter Inborn genetic diseases ⚠
- p.His45Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile126Val Single submitter primary ciliary dyskinesia 32 ⚠
- p.Ile160Met Single submitter primary ciliary dyskinesia 32 ⚠
- p.Ile49Thr Single submitter Inborn genetic diseases ⚠
- p.Leu146Val Single submitter primary ciliary dyskinesia 32 ⚠
- p.Leu179Phe Single submitter primary ciliary dyskinesia 32 ⚠
- p.Leu210Ile Single submitter primary ciliary dyskinesia 32 ⚠
- p.Leu210Val Single submitter Inborn genetic diseases ⚠
- p.Leu317Ser Single submitter primary ciliary dyskinesia 32 ⚠
- p.Leu399Phe Single submitter Inborn genetic diseases ⚠
- p.Leu63Phe Single submitter primary ciliary dyskinesia 32 ⚠
- p.Leu68Gln Single submitter primary ciliary dyskinesia 32 ⚠
- p.Lys182Asn Single submitter primary ciliary dyskinesia 32 ⚠
- p.Lys392fs Single submitter primary ciliary dyskinesia 32
- p.Met1Val Single submitter primary ciliary dyskinesia 32 ⚠
- p.Met394Thr Single submitter Inborn genetic diseases ⚠
- p.Met50Thr Single submitter primary ciliary dyskinesia 32 ⚠
- p.Phe271Ser Single submitter primary ciliary dyskinesia 32 ⚠
- p.Phe360Leu Single submitter primary ciliary dyskinesia 32 ⚠
- p.Pro142Leu Single submitter primary ciliary dyskinesia 32 ⚠
- p.Pro339Leu Single submitter Inborn genetic diseases ⚠
- p.Pro345Leu Single submitter primary ciliary dyskinesia 32 ⚠
- p.Ser273Gly Single submitter Inborn genetic diseases ⚠
- p.Ser307Asn Single submitter Inborn genetic diseases ⚠
- p.Thr183Ala Single submitter primary ciliary dyskinesia 32 ⚠
- p.Thr183Lys Single submitter primary ciliary dyskinesia 32 ⚠
- p.Thr303Ala Single submitter primary ciliary dyskinesia 32 ⚠
- p.Thr303fs Single submitter primary ciliary dyskinesia 32
- p.Thr312Ala Single submitter Inborn genetic diseases ⚠
- p.Thr335Ile Single submitter Inborn genetic diseases ⚠
- p.Thr382Ala Single submitter Inborn genetic diseases ⚠
- p.Thr60Ser Single submitter primary ciliary dyskinesia 32 ⚠
- p.Tyr118His Single submitter ⚠
- p.Tyr207Cys Single submitter primary ciliary dyskinesia 32 ⚠
- p.Tyr329Cys Single submitter primary ciliary dyskinesia 32 ⚠
- p.Val105Met Single submitter primary ciliary dyskinesia 32 ⚠
- p.Val322fs Single submitter primary ciliary dyskinesia 32
- p.Val55Gly Single submitter primary ciliary dyskinesia 32 ⚠