Sugi Variant

Sugi Variant/ODAD3

ODAD3 — 435 ClinVar variants

All ClinVar germline ODAD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

18 Pathogenic · 1 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 5 Conflicting · 27 Benign · 6 Benign/Likely benign · 176 Likely benign · 182 Uncertain significance

Full ODAD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 3

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

Predictors lean, ClinVar uncertain 144

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

Predictors split 18

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

All ODAD3 variants

Pathogenic 18

  • p.Arg482fs Multiple submitters primary ciliary dyskinesia 30
  • p.Gln354Ter Multiple submitters primary ciliary dyskinesia 30
  • p.Glu90Ter Multiple submitters primary ciliary dyskinesia 30
  • p.His199fs Multiple submitters primary ciliary dyskinesia 30
  • p.Arg26fs Single submitter primary ciliary dyskinesia 30
  • p.Arg292Ter Single submitter primary ciliary dyskinesia 30
  • p.Arg40Ter Single submitter primary ciliary dyskinesia 30
  • p.Arg529fs Single submitter primary ciliary dyskinesia 30
  • p.Asn197fs Single submitter primary ciliary dyskinesia 30
  • p.Gln163Ter Single submitter primary ciliary dyskinesia 30
  • p.Gln175fs Single submitter primary ciliary dyskinesia 30
  • p.Gln17Ter Single submitter primary ciliary dyskinesia 30
  • p.Ile301fs Single submitter primary ciliary dyskinesia 30
  • p.Leu313fs Single submitter primary ciliary dyskinesia 30
  • p.Leu391fs Single submitter primary ciliary dyskinesia 1
  • p.Ser419Ter Single submitter primary ciliary dyskinesia 30
  • p.Trp137Ter Single submitter primary ciliary dyskinesia 30
  • p.Tyr236Ter Single submitter primary ciliary dyskinesia 30

Pathogenic/Likely pathogenic 1

  • p.Arg85fs Multiple submitters primary ciliary dyskinesia 30

Likely pathogenic 20

  • c.964-1G>A Multiple submitters primary ciliary dyskinesia 30
  • c.1116+1G>A Single submitter primary ciliary dyskinesia 30
  • c.1117-1G>C Single submitter primary ciliary dyskinesia 30
  • c.244+1G>A Single submitter primary ciliary dyskinesia 30
  • c.244+1G>T Single submitter primary ciliary dyskinesia 30
  • c.244+5G>T Single submitter primary ciliary dyskinesia 30
  • c.367-1G>A Single submitter primary ciliary dyskinesia 30
  • c.367-1G>C Single submitter primary ciliary dyskinesia 30
  • p.Gln232Ter Single submitter primary ciliary dyskinesia 30
  • p.Gln381Ter Single submitter CCDC151-related disorders
  • p.Gln491Ter Single submitter primary ciliary dyskinesia 30
  • p.Glu263Ter Single submitter primary ciliary dyskinesia 30
  • p.His38fs Single submitter ODAD3-related disorder
  • p.Ser33Ter Single submitter primary ciliary dyskinesia
  • p.Ser53fs Single submitter primary ciliary dyskinesia 30
  • p.Trp135Ter Single submitter primary ciliary dyskinesia 30
  • p.Trp94Ter Single submitter primary ciliary dyskinesia 30
  • p.Tyr141Ter Single submitter primary ciliary dyskinesia 30
  • p.Val127fs Single submitter primary ciliary dyskinesia 30
  • p.Glu370fs No assertion criteria ODAD3-related disorder

Conflicting classifications of pathogenicity 5

Benign 27

Benign/Likely benign 6

  • c.715-19C>G Multiple submitters primary ciliary dyskinesia 30
  • p.Arg401= Multiple submitters primary ciliary dyskinesia 30
  • p.Asn243= Multiple submitters primary ciliary dyskinesia 30
  • p.Gly501Ser Multiple submitters primary ciliary dyskinesia 30
  • p.Leu142Val Multiple submitters primary ciliary dyskinesia 30
  • p.Thr205Ile Multiple submitters primary ciliary dyskinesia 30

Likely benign 176

  • c.1590+8G>A Multiple submitters primary ciliary dyskinesia 30
  • c.244+19G>A Multiple submitters primary ciliary dyskinesia 30
  • c.366+32C>T Multiple submitters
  • c.366+37C>T Multiple submitters
  • c.366+9C>T Multiple submitters primary ciliary dyskinesia 30
  • c.444+15G>A Multiple submitters primary ciliary dyskinesia 30
  • c.444+18C>T Multiple submitters primary ciliary dyskinesia 30
  • p.Ala448= Multiple submitters primary ciliary dyskinesia 30
  • p.Ala72= Multiple submitters primary ciliary dyskinesia 30
  • p.Arg133His Multiple submitters primary ciliary dyskinesia 30
  • p.Asp480= Multiple submitters primary ciliary dyskinesia 30
  • p.Leu242= Multiple submitters primary ciliary dyskinesia 30
  • p.Leu283= Multiple submitters primary ciliary dyskinesia 30
  • p.Thr368= Multiple submitters primary ciliary dyskinesia 30
  • c.1116+14G>T Single submitter primary ciliary dyskinesia 30
  • c.1116+17G>T Single submitter primary ciliary dyskinesia 30
  • c.1116+40_1116+41del Single submitter
  • c.1116+9T>C Single submitter primary ciliary dyskinesia 30
  • c.1117-221A>G Single submitter
  • c.1117-5C>T Single submitter primary ciliary dyskinesia 30
  • c.1435-12C>T Single submitter primary ciliary dyskinesia 30
  • c.1435-15C>A Single submitter primary ciliary dyskinesia 30
  • c.1435-16T>C Single submitter primary ciliary dyskinesia 30
  • c.1435-19G>C Single submitter primary ciliary dyskinesia 30
  • c.1435-19G>T Single submitter primary ciliary dyskinesia 30
  • c.1435-20C>T Single submitter primary ciliary dyskinesia 30
  • c.1590+10A>G Single submitter primary ciliary dyskinesia 30
  • c.1590+13C>T Single submitter primary ciliary dyskinesia 30
  • c.1590+9C>T Single submitter primary ciliary dyskinesia 30
  • c.1591-10C>G Single submitter primary ciliary dyskinesia 30
  • c.1591-6G>A Single submitter primary ciliary dyskinesia 30
  • c.1675+11G>A Single submitter primary ciliary dyskinesia 30
  • c.1675+12T>A Single submitter primary ciliary dyskinesia 30
  • c.1675+8T>C Single submitter primary ciliary dyskinesia 30
  • c.1676-10C>A Single submitter primary ciliary dyskinesia 30
  • c.1676-12C>T Single submitter primary ciliary dyskinesia 30
  • c.1676-14C>T Single submitter primary ciliary dyskinesia 30
  • c.1676-17C>G Single submitter primary ciliary dyskinesia 30
  • c.1676-17C>T Single submitter primary ciliary dyskinesia 30
  • c.1676-4T>G Single submitter
  • c.1676-6C>G Single submitter primary ciliary dyskinesia 30
  • c.244+12_244+20del Single submitter primary ciliary dyskinesia 30
  • c.244+12C>A Single submitter primary ciliary dyskinesia 30
  • c.244+14A>G Single submitter primary ciliary dyskinesia 30
  • c.244+18G>A Single submitter primary ciliary dyskinesia 30
  • c.244+237_244+238del Single submitter
  • c.245-108dup Single submitter
  • c.245-17C>A Single submitter primary ciliary dyskinesia 30
  • c.245-19del Single submitter primary ciliary dyskinesia 30
  • c.245-8C>T Single submitter primary ciliary dyskinesia 30
  • c.245-94del Single submitter
  • c.366+10A>C Single submitter
  • c.366+16G>T Single submitter
  • c.367-11C>G Single submitter primary ciliary dyskinesia 30
  • c.367-18G>A Single submitter primary ciliary dyskinesia 30
  • c.367-19T>C Single submitter primary ciliary dyskinesia 30
  • c.367-4G>T Single submitter primary ciliary dyskinesia 30
  • c.367-9T>C Single submitter primary ciliary dyskinesia 30
  • c.444+14C>T Single submitter primary ciliary dyskinesia 30
  • c.444+19C>T Single submitter primary ciliary dyskinesia 30
  • c.444+245dup Single submitter
  • c.444+8C>T Single submitter primary ciliary dyskinesia 30
  • c.445-13C>T Single submitter primary ciliary dyskinesia 30
  • c.445-15C>G Single submitter primary ciliary dyskinesia 30
  • c.445-19G>T Single submitter primary ciliary dyskinesia 30
  • c.445-20C>T Single submitter primary ciliary dyskinesia 30
  • c.445-273dup Single submitter
  • c.612+20G>A Single submitter primary ciliary dyskinesia 30
  • c.612+8C>T Single submitter primary ciliary dyskinesia 30
  • c.613-18_613-14del Single submitter primary ciliary dyskinesia 30
  • c.613-20C>A Single submitter primary ciliary dyskinesia 30
  • c.714+15G>T Single submitter primary ciliary dyskinesia 30
  • c.714+18T>C Single submitter primary ciliary dyskinesia 30
  • c.714+8C>G Single submitter primary ciliary dyskinesia 30
  • c.715-6C>T Single submitter primary ciliary dyskinesia 30
  • c.715-7G>A Single submitter primary ciliary dyskinesia 30
  • c.715-8C>T Single submitter primary ciliary dyskinesia 30
  • c.82+421dup Single submitter
  • c.840+10C>T Single submitter primary ciliary dyskinesia 30
  • c.840+16C>G Single submitter primary ciliary dyskinesia 30
  • c.840+7C>T Single submitter primary ciliary dyskinesia 30
  • c.840+9C>T Single submitter primary ciliary dyskinesia 30
  • c.841-10C>T Single submitter primary ciliary dyskinesia 30
  • c.841-16C>T Single submitter primary ciliary dyskinesia 30
  • c.841-20C>T Single submitter primary ciliary dyskinesia 30
  • c.841-9G>A Single submitter primary ciliary dyskinesia 30
  • c.963+14G>A Single submitter primary ciliary dyskinesia 30
  • c.963+15G>C Single submitter primary ciliary dyskinesia 30
  • c.963+17G>T Single submitter primary ciliary dyskinesia 30
  • c.963+9A>G Single submitter primary ciliary dyskinesia 30
  • c.964-19G>T Single submitter primary ciliary dyskinesia 30
  • c.-72G>A Single submitter
  • c.*101G>C Single submitter
  • p.Ala130= Single submitter primary ciliary dyskinesia 30
  • p.Ala193= Single submitter primary ciliary dyskinesia 30
  • p.Ala275= Single submitter primary ciliary dyskinesia 30
  • p.Ala308= Single submitter primary ciliary dyskinesia 30
  • p.Ala365= Single submitter primary ciliary dyskinesia 30
  • p.Ala47= Single submitter primary ciliary dyskinesia 30
  • p.Ala484= Single submitter primary ciliary dyskinesia 30
  • p.Ala551= Single submitter primary ciliary dyskinesia 30
  • p.Arg107= Single submitter primary ciliary dyskinesia 30
  • p.Arg133= Single submitter primary ciliary dyskinesia 30
  • p.Arg207= Single submitter primary ciliary dyskinesia 30
  • p.Arg317= Single submitter primary ciliary dyskinesia 30
  • p.Arg324= Single submitter primary ciliary dyskinesia 30
  • p.Arg40= Single submitter primary ciliary dyskinesia 30
  • p.Arg443= Single submitter primary ciliary dyskinesia 30
  • p.Arg454= Single submitter primary ciliary dyskinesia 30
  • p.Arg52His Single submitter Inborn genetic diseases
  • p.Arg60= Single submitter primary ciliary dyskinesia 30
  • p.Asn315= Single submitter primary ciliary dyskinesia 30
  • p.Asn395= Single submitter primary ciliary dyskinesia 30
  • p.Asp239= Single submitter primary ciliary dyskinesia 30
  • p.Asp415= Single submitter primary ciliary dyskinesia 30
  • p.Asp450= Single submitter primary ciliary dyskinesia 30
  • p.Asp518= Single submitter primary ciliary dyskinesia 30
  • p.Gln175= Single submitter primary ciliary dyskinesia 30
  • p.Gln284= Single submitter primary ciliary dyskinesia 30
  • p.Gln397= Single submitter primary ciliary dyskinesia 30
  • p.Gln46= Single submitter primary ciliary dyskinesia 30
  • p.Gln460= Single submitter primary ciliary dyskinesia 30
  • p.Glu343= Single submitter primary ciliary dyskinesia 30
  • p.Glu344= Single submitter primary ciliary dyskinesia 30
  • p.Glu467= Single submitter primary ciliary dyskinesia 30
  • p.Gly61= Single submitter primary ciliary dyskinesia 30
  • p.Gly63= Single submitter primary ciliary dyskinesia 30
  • p.His169Tyr Single submitter Inborn genetic diseases
  • p.His185= Single submitter primary ciliary dyskinesia 30
  • p.His372Leu Single submitter primary ciliary dyskinesia 30
  • p.Ile526= Single submitter primary ciliary dyskinesia 30
  • p.Leu117= Single submitter primary ciliary dyskinesia 30
  • p.Leu153= Single submitter primary ciliary dyskinesia 30
  • p.Leu167= Single submitter primary ciliary dyskinesia 30
  • p.Leu181= Single submitter primary ciliary dyskinesia 30
  • p.Leu190= Single submitter
  • p.Leu213= Single submitter primary ciliary dyskinesia 30
  • p.Leu231= Single submitter primary ciliary dyskinesia 30
  • p.Leu237= Single submitter primary ciliary dyskinesia 30
  • p.Leu273= Single submitter primary ciliary dyskinesia 30
  • p.Leu329= Single submitter primary ciliary dyskinesia 30
  • p.Leu379= Single submitter primary ciliary dyskinesia 30
  • p.Leu388= Single submitter primary ciliary dyskinesia 30
  • p.Leu399= Single submitter primary ciliary dyskinesia 30
  • p.Leu402= Single submitter primary ciliary dyskinesia 30
  • p.Leu413= Single submitter primary ciliary dyskinesia 30
  • p.Leu438= Single submitter primary ciliary dyskinesia 30
  • p.Leu466= Single submitter primary ciliary dyskinesia 30
  • p.Leu473= Single submitter primary ciliary dyskinesia 30
  • p.Leu500= Single submitter primary ciliary dyskinesia 30
  • p.Leu507= Single submitter primary ciliary dyskinesia 30
  • p.Leu508= Single submitter primary ciliary dyskinesia 30
  • p.Leu535= Single submitter primary ciliary dyskinesia 30
  • p.Lys136= Single submitter primary ciliary dyskinesia 30
  • p.Lys296= Single submitter primary ciliary dyskinesia 30
  • p.Lys429= Single submitter primary ciliary dyskinesia 30
  • p.Lys439= Single submitter primary ciliary dyskinesia 30
  • p.Lys463= Single submitter primary ciliary dyskinesia 30
  • p.Lys472= Single submitter primary ciliary dyskinesia 30
  • p.Lys486= Single submitter primary ciliary dyskinesia 30
  • p.Lys64= Single submitter primary ciliary dyskinesia 30
  • p.Phe483= Single submitter primary ciliary dyskinesia 30
  • p.Pro140= Single submitter primary ciliary dyskinesia 30
  • p.Pro549= Single submitter primary ciliary dyskinesia 30
  • p.Pro65= Single submitter primary ciliary dyskinesia 30
  • p.Ser534= Single submitter primary ciliary dyskinesia 30
  • p.Ser592= Single submitter primary ciliary dyskinesia 30
  • p.Thr200= Single submitter primary ciliary dyskinesia 30
  • p.Thr22= Single submitter primary ciliary dyskinesia 30
  • p.Thr334= Single submitter primary ciliary dyskinesia 30
  • p.Thr390= Single submitter primary ciliary dyskinesia 30
  • p.Thr571= Single submitter primary ciliary dyskinesia 30
  • p.Tyr300= Single submitter primary ciliary dyskinesia 30
  • p.Tyr418= Single submitter primary ciliary dyskinesia 30
  • p.Val229= Single submitter
  • p.Val519= Single submitter primary ciliary dyskinesia 30

Uncertain significance 182