DNAAF19 — 196 ClinVar variants
All ClinVar germline DNAAF19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
12 Pathogenic · 6 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 6 Benign · 4 Benign/Likely benign · 66 Likely benign · 82 Uncertain significance
Full DNAAF19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAAF19 p.Ala158Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Pro92Leu
Conflicting
Single submitter
primary ciliary dyskinesia 17
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAAF19 p.Ala162Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Arg110Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Arg185Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 17
-
DNAAF19 p.Arg28Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 17
-
DNAAF19 p.Asp138Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Glu118Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Glu237Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Glu93Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Gly49Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Gly66Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Val207Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Ala150Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Ala171Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Ala18Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Ala36Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg111Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg111Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg160Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg185Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg3Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 17
-
DNAAF19 p.Asp104His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Cys191Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Glu24Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Glu2Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Gly145Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Gly217Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Gly224Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 17
-
DNAAF19 p.Gly49Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.His76Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Leu167Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Leu183Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Leu20Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF19 p.Lys27Arg Uncertain significance Single submitter
-
DNAAF19 p.Lys57Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Met201Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Pro157Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Ser115Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Thr177Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Trp109Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Val149Met
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF19 p.Val155Met Uncertain significance Single submitter
- DNAAF19 p.Arg35Pro Uncertain significance No assertion criteria
Predictors split 13
The independent predictors disagree with each other — read with care.
-
DNAAF19 p.Arg35Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 17
-
DNAAF19 p.Arg61Gln
Likely benign
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Arg61Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.His154Pro
Pathogenic/Likely pathogenic
Multiple submitters
Fetal anomalies with a likely genetic cause
-
DNAAF19 p.Thr101Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Thr101Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF19 p.Ala171Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg107Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg119Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg160Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg175Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
DNAAF19 p.Arg28Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
- DNAAF19 p.Asn8Ser Uncertain significance Single submitter
All DNAAF19 variants
Pathogenic 12
- p.Arg110Ter Multiple submitters diarrhea 12, with microvillus atrophy
- p.Gln39Ter Multiple submitters primary ciliary dyskinesia
- c.144-1G>T Single submitter primary ciliary dyskinesia
- c.276+1_277-298del Single submitter primary ciliary dyskinesia
- c.276+1G>A Single submitter primary ciliary dyskinesia
- c.276+1G>C Single submitter primary ciliary dyskinesia
- p.Gln136Ter Single submitter primary ciliary dyskinesia
- p.Glu13Ter Single submitter primary ciliary dyskinesia
- p.Glu146Ter Single submitter primary ciliary dyskinesia
- p.Trp109Ter Single submitter primary ciliary dyskinesia
- p.Tyr120Ter Single submitter primary ciliary dyskinesia
- p.Pro129fs No assertion criteria primary ciliary dyskinesia 17
Pathogenic/Likely pathogenic 6
- c.144-1G>A Multiple submitters primary ciliary dyskinesia
- p.Arg111Ter Multiple submitters primary ciliary dyskinesia
- p.Glu100Ter Multiple submitters primary ciliary dyskinesia 17
- p.Glu189fs Multiple submitters primary ciliary dyskinesia 17
- p.His154Pro Multiple submitters Fetal anomalies with a likely genetic cause ⚠
- p.Leu97fs Multiple submitters primary ciliary dyskinesia
Likely pathogenic 10
- c.276_276+13del Multiple submitters primary ciliary dyskinesia 17
- p.Ser190fs Multiple submitters primary ciliary dyskinesia
- p.Arg175fs Single submitter CCDC103-related disorder
- p.Gly66fs Single submitter primary ciliary dyskinesia 17
- p.His76fs Single submitter primary ciliary dyskinesia
- p.Met1Val Single submitter primary ciliary dyskinesia 17
- p.Met201fs Single submitter primary ciliary dyskinesia 17
- p.Thr137fs Single submitter primary ciliary dyskinesia 17
- p.Trp73Ter Single submitter primary ciliary dyskinesia 17
- p.Tyr26Ter Single submitter primary ciliary dyskinesia 17
Conflicting classifications of pathogenicity 10
- c.*789C>T Single submitter primary ciliary dyskinesia 17
- p.Ala11Pro Single submitter primary ciliary dyskinesia
- p.Ala158Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala171= Single submitter primary ciliary dyskinesia
- p.Glu209= Single submitter primary ciliary dyskinesia 17
- p.Glu24= Single submitter primary ciliary dyskinesia 17
- p.Gly116= Single submitter primary ciliary dyskinesia
- p.Gly202= Single submitter primary ciliary dyskinesia 17
- p.Pro92Leu Single submitter primary ciliary dyskinesia 17 ⚠
- p.Pro96= Single submitter primary ciliary dyskinesia
Benign 6
- c.143+45T>C Multiple submitters
- c.277-141G>A Multiple submitters
- c.-45G>A Multiple submitters primary ciliary dyskinesia 17
- c.276+136C>T Single submitter
- c.276+19del Single submitter primary ciliary dyskinesia
- c.-9-314C>A Single submitter
Benign/Likely benign 4
- c.276+6T>C Multiple submitters primary ciliary dyskinesia 17
- c.277-63C>A Multiple submitters
- c.*4G>A Multiple submitters primary ciliary dyskinesia 17
- p.Ser206= Multiple submitters primary ciliary dyskinesia
Likely benign 66
- c.276+67C>T Multiple submitters
- p.Ala162= Multiple submitters primary ciliary dyskinesia
- p.Ala186= Multiple submitters primary ciliary dyskinesia
- p.Ala22= Multiple submitters primary ciliary dyskinesia
- p.Arg61Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.His112= Multiple submitters primary ciliary dyskinesia
- p.Pro157= Multiple submitters primary ciliary dyskinesia
- p.Thr101= Multiple submitters primary ciliary dyskinesia
- p.Thr88= Multiple submitters primary ciliary dyskinesia
- c.143+14C>T Single submitter primary ciliary dyskinesia
- c.143+49A>G Single submitter
- c.143+8C>T Single submitter primary ciliary dyskinesia
- c.144-12C>T Single submitter primary ciliary dyskinesia
- c.144-15G>A Single submitter primary ciliary dyskinesia
- c.144-4A>T Single submitter primary ciliary dyskinesia
- c.276+10G>A Single submitter primary ciliary dyskinesia
- c.276+12C>T Single submitter primary ciliary dyskinesia
- c.276+18C>T Single submitter primary ciliary dyskinesia
- c.276+19C>T Single submitter primary ciliary dyskinesia
- c.277-12T>C Single submitter primary ciliary dyskinesia
- c.277-17C>T Single submitter primary ciliary dyskinesia
- c.277-30C>G Single submitter
- c.277-4C>T Single submitter primary ciliary dyskinesia
- c.277-62C>G Single submitter
- c.277-8T>C Single submitter primary ciliary dyskinesia
- p.Ala95= Single submitter primary ciliary dyskinesia
- p.Arg107= Single submitter primary ciliary dyskinesia
- p.Arg185= Single submitter primary ciliary dyskinesia
- p.Arg61= Single submitter primary ciliary dyskinesia
- p.Arg81= Single submitter primary ciliary dyskinesia
- p.Asp23= Single submitter primary ciliary dyskinesia
- p.Gln121= Single submitter primary ciliary dyskinesia
- p.Gln216= Single submitter primary ciliary dyskinesia
- p.Gln240= Single submitter primary ciliary dyskinesia
- p.Glu189= Single submitter primary ciliary dyskinesia
- p.Glu219= Single submitter primary ciliary dyskinesia
- p.Glu237= Single submitter primary ciliary dyskinesia
- p.Glu46Asp Single submitter primary ciliary dyskinesia
- p.Gly165= Single submitter primary ciliary dyskinesia
- p.Gly210= Single submitter primary ciliary dyskinesia
- p.His154= Single submitter primary ciliary dyskinesia
- p.Leu123= Single submitter primary ciliary dyskinesia
- p.Leu131= Single submitter primary ciliary dyskinesia
- p.Leu134= Single submitter primary ciliary dyskinesia
- p.Leu147= Single submitter primary ciliary dyskinesia
- p.Leu16= Single submitter primary ciliary dyskinesia
- p.Leu167= Single submitter primary ciliary dyskinesia
- p.Leu183= Single submitter primary ciliary dyskinesia
- p.Leu198= Single submitter primary ciliary dyskinesia
- p.Leu211= Single submitter primary ciliary dyskinesia
- p.Leu225= Single submitter primary ciliary dyskinesia
- p.Leu232= Single submitter primary ciliary dyskinesia
- p.Leu235= Single submitter primary ciliary dyskinesia
- p.Leu236= Single submitter primary ciliary dyskinesia
- p.Leu238= Single submitter primary ciliary dyskinesia
- p.Lys27= Single submitter primary ciliary dyskinesia
- p.Pro99= Single submitter primary ciliary dyskinesia
- p.Ser102= Single submitter primary ciliary dyskinesia
- p.Ser184= Single submitter primary ciliary dyskinesia
- p.Ser43= Single submitter primary ciliary dyskinesia
- p.Ser91= Single submitter primary ciliary dyskinesia
- p.Thr173= Single submitter primary ciliary dyskinesia
- p.Thr21Ala Single submitter primary ciliary dyskinesia
- p.Thr82= Single submitter primary ciliary dyskinesia
- p.Tyr239= Single submitter primary ciliary dyskinesia
- p.Tyr26= Single submitter primary ciliary dyskinesia
Uncertain significance 82
- c.-113G>A Multiple submitters primary ciliary dyskinesia 17
- c.*24C>T Multiple submitters primary ciliary dyskinesia 17
- c.*685C>T Multiple submitters primary ciliary dyskinesia 17
- p.Ala162Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg110Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg185Gln Multiple submitters primary ciliary dyskinesia 17 ⚠
- p.Arg28Pro Multiple submitters primary ciliary dyskinesia 17 ⚠
- p.Arg35Gln Multiple submitters primary ciliary dyskinesia 17 ⚠
- p.Arg61Trp Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp138Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu118Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu146Gly Multiple submitters primary ciliary dyskinesia
- p.Glu237Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu93Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly49Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly66Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr101Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr101Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Tyr120Cys Multiple submitters primary ciliary dyskinesia
- p.Val207Met Multiple submitters primary ciliary dyskinesia ⚠
- c.276+4G>A Single submitter primary ciliary dyskinesia
- c.276+4G>T Single submitter primary ciliary dyskinesia
- c.-11G>A Single submitter primary ciliary dyskinesia 17
- c.-131C>A Single submitter primary ciliary dyskinesia 17
- c.-135C>T Single submitter primary ciliary dyskinesia 17
- c.-141C>T Single submitter primary ciliary dyskinesia 17
- c.-150A>G Single submitter primary ciliary dyskinesia 17
- c.-16C>T Single submitter primary ciliary dyskinesia 17
- c.-74G>C Single submitter primary ciliary dyskinesia 17
- c.*19G>C Single submitter primary ciliary dyskinesia 17
- c.*307C>A Single submitter primary ciliary dyskinesia 17
- c.*584G>A Single submitter primary ciliary dyskinesia 17
- c.*733C>T Single submitter primary ciliary dyskinesia 17
- c.*739T>C Single submitter primary ciliary dyskinesia 17
- c.*784C>A Single submitter primary ciliary dyskinesia 17
- c.*787C>T Single submitter primary ciliary dyskinesia 17
- c.*789C>A Single submitter primary ciliary dyskinesia 17
- c.*795G>A Single submitter primary ciliary dyskinesia 17
- c.*821G>A Single submitter primary ciliary dyskinesia 17
- p.Ala150Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala171Glu Single submitter primary ciliary dyskinesia ⚠
- p.Ala171Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala18Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala36Thr Single submitter primary ciliary dyskinesia ⚠
- p.Arg107Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg111_His112delinsProAsn Single submitter primary ciliary dyskinesia 17
- p.Arg111Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg111Leu Single submitter primary ciliary dyskinesia ⚠
- p.Arg119Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg160Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg160Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg175Cys Single submitter primary ciliary dyskinesia ⚠
- p.Arg185Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg28Trp Single submitter primary ciliary dyskinesia ⚠
- p.Arg3Lys Single submitter primary ciliary dyskinesia 17 ⚠
- p.Asn8Ser Single submitter ⚠
- p.Asp104His Single submitter primary ciliary dyskinesia ⚠
- p.Cys191Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu24Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu2Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu45Lys Single submitter primary ciliary dyskinesia
- p.Gly145Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly217Cys Single submitter primary ciliary dyskinesia ⚠
- p.Gly224Ala Single submitter primary ciliary dyskinesia 17 ⚠
- p.Gly49Asp Single submitter primary ciliary dyskinesia ⚠
- p.His76Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Ile7del Single submitter primary ciliary dyskinesia
- p.Leu167Gln Single submitter primary ciliary dyskinesia ⚠
- p.Leu183Gln Single submitter primary ciliary dyskinesia ⚠
- p.Leu20Pro Single submitter primary ciliary dyskinesia ⚠
- p.Lys27Arg Single submitter ⚠
- p.Lys57Arg Single submitter primary ciliary dyskinesia ⚠
- p.Met201Ile Single submitter primary ciliary dyskinesia ⚠
- p.Pro157Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro92= Single submitter primary ciliary dyskinesia
- p.Ser102Phe Single submitter primary ciliary dyskinesia
- p.Ser115Cys Single submitter primary ciliary dyskinesia ⚠
- p.Thr177Ile Single submitter primary ciliary dyskinesia ⚠
- p.Trp109Gly Single submitter primary ciliary dyskinesia ⚠
- p.Val149Met Single submitter primary ciliary dyskinesia ⚠
- p.Val155Met Single submitter ⚠
- p.Arg35Pro No assertion criteria ⚠