Sugi Variant

Sugi Variant/DNAAF11

DNAAF11 — 345 ClinVar variants

All ClinVar germline DNAAF11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

31 Pathogenic · 8 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 20 Conflicting · 22 Benign · 8 Benign/Likely benign · 109 Likely benign · 136 Uncertain significance

Full DNAAF11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 88

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 24

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

All DNAAF11 variants

Pathogenic 31

Pathogenic/Likely pathogenic 8

  • c.178+2T>A Multiple submitters primary ciliary dyskinesia
  • c.179-1G>A Multiple submitters primary ciliary dyskinesia 19
  • p.Arg180Ter Multiple submitters primary ciliary dyskinesia 19
  • p.Asn61Lys Multiple submitters primary ciliary dyskinesia 19 ⚠
  • p.Asp146His Multiple submitters DNAAF11 & LRRC6-related disorders
  • p.Phe119fs Multiple submitters primary ciliary dyskinesia 19
  • p.Ser27fs Multiple submitters primary ciliary dyskinesia
  • p.Val19fs Multiple submitters primary ciliary dyskinesia 19

Likely pathogenic 11

Conflicting classifications of pathogenicity 20

  • c.178+13A>G Single submitter primary ciliary dyskinesia 19
  • c.974+14C>A Single submitter primary ciliary dyskinesia 19
  • c.*239T>C Single submitter primary ciliary dyskinesia 19
  • c.*5T>G Single submitter primary ciliary dyskinesia 19
  • p.Ala204Thr Single submitter primary ciliary dyskinesia ⚠
  • p.Ala204Val Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Arg11Gln Single submitter primary ciliary dyskinesia ⚠
  • p.Arg11Trp Single submitter primary ciliary dyskinesia ⚠
  • p.Arg44Gln Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Asn215Ser Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Gln192Glu Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Ile100Thr Single submitter Respiratory ciliopathies including non-CF bronchiectasis
  • p.Ile106Val Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Ile317Val Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Ile78Val Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Leu240Ser Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Lys415= Single submitter primary ciliary dyskinesia
  • p.Met1Lys Single submitter LRRC6-related disorders
  • p.Pro464Leu Single submitter primary ciliary dyskinesia 19 ⚠
  • p.Val136= Single submitter primary ciliary dyskinesia 19

Benign 22

Benign/Likely benign 8

  • c.914+13A>G Multiple submitters primary ciliary dyskinesia 19
  • c.974+18G>A Multiple submitters primary ciliary dyskinesia 19
  • p.Gly388Ser Multiple submitters primary ciliary dyskinesia 19
  • p.Ile431= Multiple submitters primary ciliary dyskinesia 19
  • p.Ile466Thr Multiple submitters primary ciliary dyskinesia ⚠
  • p.Leu95= Multiple submitters primary ciliary dyskinesia 19
  • p.Pro464= Multiple submitters primary ciliary dyskinesia
  • p.Thr232Ile Multiple submitters primary ciliary dyskinesia 19

Likely benign 109

  • c.10+162A>C Multiple submitters
  • c.1226+17C>A Multiple submitters primary ciliary dyskinesia 19
  • c.1226+33T>G Multiple submitters
  • c.1226+6A>G Multiple submitters primary ciliary dyskinesia 19
  • c.430-94C>T Multiple submitters
  • c.915-19C>T Multiple submitters primary ciliary dyskinesia 19
  • c.974+122A>C Multiple submitters
  • p.Ala391= Multiple submitters primary ciliary dyskinesia
  • p.Asn123= Multiple submitters primary ciliary dyskinesia
  • p.Asn16= Multiple submitters primary ciliary dyskinesia 19
  • p.Asn215= Multiple submitters primary ciliary dyskinesia
  • p.Asp427= Multiple submitters primary ciliary dyskinesia 19
  • p.Gln337= Multiple submitters primary ciliary dyskinesia
  • p.Glu14= Multiple submitters primary ciliary dyskinesia 19
  • p.Gly2= Multiple submitters primary ciliary dyskinesia
  • p.Ile332= Multiple submitters primary ciliary dyskinesia 19
  • p.Leu49= Multiple submitters primary ciliary dyskinesia
  • p.Lys435= Multiple submitters
  • p.Ser22= Multiple submitters primary ciliary dyskinesia
  • p.Val353= Multiple submitters primary ciliary dyskinesia 19
  • p.Val62= Multiple submitters primary ciliary dyskinesia 19
  • c.10+12T>A Single submitter primary ciliary dyskinesia 19
  • c.10+13C>T Single submitter primary ciliary dyskinesia 19
  • c.10+17C>G Single submitter primary ciliary dyskinesia 19
  • c.10+7C>T Single submitter primary ciliary dyskinesia 19
  • c.10+9C>G Single submitter primary ciliary dyskinesia 19
  • c.1044+257C>T Single submitter
  • c.1045-14C>G Single submitter primary ciliary dyskinesia 19
  • c.11-10T>C Single submitter primary ciliary dyskinesia 19
  • c.1140+10G>A Single submitter primary ciliary dyskinesia 19
  • c.1140+11T>A Single submitter primary ciliary dyskinesia 19
  • c.1141-173G>A Single submitter
  • c.1141-18G>A Single submitter primary ciliary dyskinesia 19
  • c.1141-7A>G Single submitter primary ciliary dyskinesia 19
  • c.1226+10T>A Single submitter primary ciliary dyskinesia 19
  • c.1226+17C>T Single submitter primary ciliary dyskinesia 19
  • c.178+15T>C Single submitter primary ciliary dyskinesia 19
  • c.178+18G>A Single submitter primary ciliary dyskinesia 19
  • c.178+38A>G Single submitter
  • c.179-14A>G Single submitter primary ciliary dyskinesia 19
  • c.179-16T>G Single submitter primary ciliary dyskinesia 19
  • c.179-8T>C Single submitter
  • c.256+7C>T Single submitter primary ciliary dyskinesia 19
  • c.429+13T>A Single submitter primary ciliary dyskinesia 19
  • c.653+192G>C Single submitter
  • c.654-15A>G Single submitter primary ciliary dyskinesia 19
  • c.654-19del Single submitter primary ciliary dyskinesia 19
  • c.654-20del Single submitter primary ciliary dyskinesia 19
  • c.654-20G>T Single submitter primary ciliary dyskinesia 19
  • c.654-5C>T Single submitter primary ciliary dyskinesia 19
  • c.836+15C>T Single submitter primary ciliary dyskinesia 19
  • c.836+18A>G Single submitter primary ciliary dyskinesia 19
  • c.836+20G>A Single submitter primary ciliary dyskinesia 19
  • c.837-10C>G Single submitter primary ciliary dyskinesia 19
  • c.837-11C>A Single submitter primary ciliary dyskinesia 19
  • c.837-9A>G Single submitter primary ciliary dyskinesia 19
  • c.914+18G>C Single submitter primary ciliary dyskinesia 19
  • c.914+19A>G Single submitter primary ciliary dyskinesia 19
  • c.915-11G>A Single submitter primary ciliary dyskinesia 19
  • c.915-8A>G Single submitter
  • c.974+17C>A Single submitter primary ciliary dyskinesia 19
  • c.974+17C>T Single submitter primary ciliary dyskinesia 19
  • c.974+41C>G Single submitter
  • c.974+9A>G Single submitter primary ciliary dyskinesia 19
  • c.*9G>A Single submitter
  • p.Ala356= Single submitter primary ciliary dyskinesia 19
  • p.Arg442= Single submitter primary ciliary dyskinesia 19
  • p.Asn242= Single submitter primary ciliary dyskinesia 19
  • p.Asn313= Single submitter primary ciliary dyskinesia 19
  • p.Asn76= Single submitter
  • p.Asp312= Single submitter primary ciliary dyskinesia 19
  • p.Gln141= Single submitter primary ciliary dyskinesia 19
  • p.Gln389= Single submitter primary ciliary dyskinesia 19
  • p.Glu102= Single submitter primary ciliary dyskinesia 19
  • p.Glu154= Single submitter primary ciliary dyskinesia
  • p.Glu404= Single submitter primary ciliary dyskinesia 19
  • p.Gly57Trp Single submitter primary ciliary dyskinesia
  • p.Ile169= Single submitter primary ciliary dyskinesia 19
  • p.Ile385= Single submitter primary ciliary dyskinesia 19
  • p.Ile4= Single submitter primary ciliary dyskinesia 19
  • p.Leu118= Single submitter primary ciliary dyskinesia 19
  • p.Leu227= Single submitter primary ciliary dyskinesia
  • p.Leu247= Single submitter primary ciliary dyskinesia 19
  • p.Leu262= Single submitter primary ciliary dyskinesia 19
  • p.Leu291= Single submitter primary ciliary dyskinesia 19
  • p.Leu36= Single submitter primary ciliary dyskinesia 19
  • p.Leu84= Single submitter primary ciliary dyskinesia 19
  • p.Lys252= Single submitter primary ciliary dyskinesia 19
  • p.Lys277= Single submitter primary ciliary dyskinesia 19
  • p.Lys297= Single submitter primary ciliary dyskinesia 19
  • p.Lys315= Single submitter primary ciliary dyskinesia 19
  • p.Lys393Thr Single submitter primary ciliary dyskinesia
  • p.Phe134= Single submitter primary ciliary dyskinesia 19
  • p.Pro124= Single submitter primary ciliary dyskinesia 19
  • p.Pro288= Single submitter primary ciliary dyskinesia 19
  • p.Pro360= Single submitter primary ciliary dyskinesia 19
  • p.Pro439= Single submitter primary ciliary dyskinesia 19
  • p.Pro445= Single submitter primary ciliary dyskinesia 19
  • p.Ser163= Single submitter primary ciliary dyskinesia 19
  • p.Ser27= Single submitter primary ciliary dyskinesia 19
  • p.Ser399= Single submitter
  • p.Ser399Leu Single submitter primary ciliary dyskinesia
  • p.Ser424= Single submitter primary ciliary dyskinesia 19
  • p.Tyr211= Single submitter primary ciliary dyskinesia 19
  • p.Tyr340= Single submitter primary ciliary dyskinesia 19
  • p.Val323= Single submitter primary ciliary dyskinesia 19
  • p.Val341= Single submitter primary ciliary dyskinesia 19
  • p.Val428= Single submitter primary ciliary dyskinesia 19
  • p.Val462= Single submitter primary ciliary dyskinesia 19

Uncertain significance 136