CCDC73 — 132 ClinVar variants
All ClinVar germline CCDC73 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
16 Likely benign · 116 Uncertain significance
Full CCDC73 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 lean, ClinVar uncertain 94
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC73 p.Ala220Glu Uncertain significance Single submitter
- CCDC73 p.Ala221Val Uncertain significance Single submitter
- CCDC73 p.Ala614Val Uncertain significance Single submitter
- CCDC73 p.Ala717Val Uncertain significance Single submitter
- CCDC73 p.Ala789Thr Uncertain significance Single submitter
- CCDC73 p.Ala88Thr Uncertain significance Single submitter
- CCDC73 p.Ala974Asp Uncertain significance Single submitter
- CCDC73 p.Arg835Ser Uncertain significance Single submitter
- CCDC73 p.Asn430Ser Uncertain significance Single submitter
- CCDC73 p.Asn4Thr Uncertain significance Single submitter
- CCDC73 p.Asn535Lys Uncertain significance Single submitter
- CCDC73 p.Asn572Lys Uncertain significance Single submitter
- CCDC73 p.Asn572Thr Uncertain significance Single submitter
- CCDC73 p.Asn903Ile Uncertain significance Single submitter
- CCDC73 p.Asn979Lys Uncertain significance Single submitter
- CCDC73 p.Asp1060Glu Uncertain significance Single submitter
- CCDC73 p.Asp156Gly Uncertain significance Single submitter
- CCDC73 p.Asp318Asn Uncertain significance Single submitter
- CCDC73 p.Asp437Asn Uncertain significance Single submitter
- CCDC73 p.Asp493His Uncertain significance Single submitter
- CCDC73 p.Asp542Asn Uncertain significance Single submitter
- CCDC73 p.Asp938Asn Uncertain significance Single submitter
- CCDC73 p.Asp938Val Uncertain significance Single submitter
- CCDC73 p.Asp958Glu Uncertain significance Single submitter
- CCDC73 p.Cys211Arg Uncertain significance Single submitter
- CCDC73 p.Cys521Ser Uncertain significance Single submitter
- CCDC73 p.Cys702Arg Uncertain significance Single submitter
- CCDC73 p.Glu1073Gly Uncertain significance Single submitter
- CCDC73 p.Glu183Asp Uncertain significance Single submitter
- CCDC73 p.Glu268Gln Uncertain significance Single submitter
- CCDC73 p.Glu341Gln Uncertain significance Single submitter
- CCDC73 p.Glu442Gln Uncertain significance Single submitter
- CCDC73 p.Glu453Gln Uncertain significance Single submitter
- CCDC73 p.Glu844Gln Uncertain significance Single submitter
- CCDC73 p.Glu865Ala Uncertain significance Single submitter
- CCDC73 p.Gly173Val Uncertain significance Single submitter
- CCDC73 p.Gly356Val Uncertain significance Single submitter
- CCDC73 p.Gly500Glu Uncertain significance Single submitter
- CCDC73 p.Gly875Arg Uncertain significance Single submitter
- CCDC73 p.Gly882Ala Uncertain significance Single submitter
- CCDC73 p.Gly882Arg Uncertain significance Single submitter
- CCDC73 p.Gly960Glu Uncertain significance Single submitter
- CCDC73 p.His150Tyr Uncertain significance Single submitter
- CCDC73 p.His340Asn Uncertain significance Single submitter
- CCDC73 p.His551Asp Uncertain significance Single submitter
- CCDC73 p.His776Arg Uncertain significance Single submitter
- CCDC73 p.Ile164Thr Uncertain significance Single submitter
- CCDC73 p.Ile193Val Uncertain significance Single submitter
- CCDC73 p.Ile416Phe Uncertain significance Single submitter
- CCDC73 p.Ile426Thr Uncertain significance Single submitter
- CCDC73 p.Ile471Thr Uncertain significance Single submitter
- CCDC73 p.Ile676Leu Uncertain significance Single submitter
- CCDC73 p.Ile676Val Uncertain significance Single submitter
- CCDC73 p.Ile813Phe Uncertain significance Single submitter
- CCDC73 p.Ile916Val Uncertain significance Single submitter
- CCDC73 p.Leu1025Ser Uncertain significance Single submitter
- CCDC73 p.Leu291Phe Uncertain significance Single submitter
- CCDC73 p.Leu606Phe Uncertain significance Single submitter
- CCDC73 p.Lys1032Asn Uncertain significance Single submitter
- CCDC73 p.Lys1074Gln Uncertain significance Single submitter
- CCDC73 p.Lys159Arg Uncertain significance Single submitter
- CCDC73 p.Lys510Asn Uncertain significance Single submitter
- CCDC73 p.Lys617Glu Uncertain significance Single submitter
- CCDC73 p.Lys626Glu Uncertain significance Single submitter
- CCDC73 p.Lys894Asn Uncertain significance Single submitter
- CCDC73 p.Lys92Thr Uncertain significance Single submitter
- CCDC73 p.Lys97Glu Uncertain significance Single submitter
- CCDC73 p.Lys987Gln Uncertain significance Single submitter
- CCDC73 p.Lys994Asn Uncertain significance Single submitter
- CCDC73 p.Met258Val Uncertain significance Single submitter
- CCDC73 p.Met87Ile Uncertain significance Single submitter
- CCDC73 p.Phe451Val Uncertain significance Single submitter
- CCDC73 p.Ser1042Thr Uncertain significance Single submitter
- CCDC73 p.Ser212Asn Uncertain significance Single submitter
- CCDC73 p.Ser578Asn Uncertain significance Single submitter
- CCDC73 p.Ser622Asn Uncertain significance Single submitter
- CCDC73 p.Ser679Pro Uncertain significance Single submitter
- CCDC73 p.Ser868Thr Uncertain significance Single submitter
- CCDC73 p.Ser874Thr Uncertain significance Single submitter
- CCDC73 p.Ser918Asn Uncertain significance Single submitter
- CCDC73 p.Ser924Leu Uncertain significance Single submitter
- CCDC73 p.Ser969Thr Uncertain significance Single submitter
- CCDC73 p.Thr1019Ile Uncertain significance Single submitter
- CCDC73 p.Thr1071Ala Uncertain significance Single submitter
- CCDC73 p.Thr170Ala Uncertain significance Single submitter
- CCDC73 p.Thr387Ile Uncertain significance Single submitter
- CCDC73 p.Thr409Ser Uncertain significance Single submitter
- CCDC73 p.Thr62Ile Uncertain significance Single submitter
- CCDC73 p.Tyr108Cys Uncertain significance Single submitter
- CCDC73 p.Tyr233Cys Uncertain significance Single submitter
- CCDC73 p.Val474Asp Uncertain significance Single submitter
- CCDC73 p.Val512Ile Uncertain significance Single submitter
- CCDC73 p.Val60Leu Uncertain significance Single submitter
- CCDC73 p.Val796Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- CCDC73 p.Arg292Trp Uncertain significance Single submitter
- CCDC73 p.Arg42Cys Uncertain significance Single submitter
- CCDC73 p.Arg42His Uncertain significance Single submitter
- CCDC73 p.Gln130Pro Uncertain significance Single submitter
- CCDC73 p.Glu155Asp Uncertain significance Single submitter
- CCDC73 p.Glu364Ala Uncertain significance Single submitter
- CCDC73 p.Glu406Gly Uncertain significance Single submitter
- CCDC73 p.Glu768Gly Uncertain significance Single submitter
- CCDC73 p.Ile520Arg Uncertain significance Single submitter
- CCDC73 p.Leu28Ser Uncertain significance Single submitter
- CCDC73 p.Leu72Phe Uncertain significance Single submitter
- CCDC73 p.Lys133Ile Uncertain significance Single submitter
- CCDC73 p.Lys309Gln Uncertain significance Single submitter
- CCDC73 p.Phe1001Leu Uncertain significance Single submitter
- CCDC73 p.Phe886Leu Uncertain significance Single submitter
- CCDC73 p.Ser1042Arg Uncertain significance Single submitter
- CCDC73 p.Ser466Arg Uncertain significance Single submitter
- CCDC73 p.Ser923Arg Uncertain significance Single submitter
- CCDC73 p.Ser929Phe Likely benign Single submitter
- CCDC73 p.Thr1071Arg Uncertain significance Single submitter
- CCDC73 p.Thr172Ile Uncertain significance Single submitter
- CCDC73 p.Thr802Arg Uncertain significance Single submitter
- CCDC73 p.Tyr51His Uncertain significance Single submitter
All CCDC73 variants
Likely benign 16
- p.Ala921Val Single submitter
- p.Asn808Ser Single submitter
- p.Glu805Gln Single submitter
- p.Gly855Glu Single submitter
- p.Ile416Val Single submitter
- p.Ile635Val Single submitter
- p.Ile916Thr Single submitter
- p.Met857Ile Single submitter
- p.Met997Ile Single submitter
- p.Ser503Leu Single submitter
- p.Ser923Ile Single submitter
- p.Ser929Phe Single submitter ⚠
- p.Thr506Met Single submitter
- p.Thr885Ala Single submitter
- p.Val700Ile Single submitter
- p.Val959Gly Single submitter
Uncertain significance 116
- p.Ala220Glu Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala614Val Single submitter ⚠
- p.Ala717Val Single submitter ⚠
- p.Ala789Thr Single submitter ⚠
- p.Ala88Thr Single submitter ⚠
- p.Ala974Asp Single submitter ⚠
- p.Arg292Trp Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg835Ser Single submitter ⚠
- p.Asn430Ser Single submitter ⚠
- p.Asn4Thr Single submitter ⚠
- p.Asn535Lys Single submitter ⚠
- p.Asn572Lys Single submitter ⚠
- p.Asn572Thr Single submitter ⚠
- p.Asn903Ile Single submitter ⚠
- p.Asn979Lys Single submitter ⚠
- p.Asp1060Glu Single submitter ⚠
- p.Asp156Gly Single submitter ⚠
- p.Asp318Asn Single submitter ⚠
- p.Asp437Asn Single submitter ⚠
- p.Asp493His Single submitter ⚠
- p.Asp542Asn Single submitter ⚠
- p.Asp938Asn Single submitter ⚠
- p.Asp938Val Single submitter ⚠
- p.Asp958Glu Single submitter ⚠
- p.Cys211Arg Single submitter ⚠
- p.Cys521Ser Single submitter ⚠
- p.Cys702Arg Single submitter ⚠
- p.Gln130Pro Single submitter ⚠
- p.Glu1073Gly Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu183Asp Single submitter ⚠
- p.Glu268Gln Single submitter ⚠
- p.Glu341Gln Single submitter ⚠
- p.Glu364Ala Single submitter ⚠
- p.Glu406Gly Single submitter ⚠
- p.Glu442Gln Single submitter ⚠
- p.Glu453Gln Single submitter ⚠
- p.Glu768Gly Single submitter ⚠
- p.Glu844Gln Single submitter ⚠
- p.Glu865Ala Single submitter ⚠
- p.Gly173Val Single submitter ⚠
- p.Gly356Val Single submitter ⚠
- p.Gly500Glu Single submitter ⚠
- p.Gly875Arg Single submitter ⚠
- p.Gly882Ala Single submitter ⚠
- p.Gly882Arg Single submitter ⚠
- p.Gly960Glu Single submitter ⚠
- p.His150Tyr Single submitter ⚠
- p.His340Asn Single submitter ⚠
- p.His551Asp Single submitter ⚠
- p.His776Arg Single submitter ⚠
- p.Ile164Thr Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile416Phe Single submitter ⚠
- p.Ile426Thr Single submitter ⚠
- p.Ile471Thr Single submitter ⚠
- p.Ile520Arg Single submitter ⚠
- p.Ile676Leu Single submitter ⚠
- p.Ile676Val Single submitter ⚠
- p.Ile813Phe Single submitter ⚠
- p.Ile916Val Single submitter ⚠
- p.Leu1025Ser Single submitter ⚠
- p.Leu28Ser Single submitter ⚠
- p.Leu291Phe Single submitter ⚠
- p.Leu606Phe Single submitter ⚠
- p.Leu72Phe Single submitter ⚠
- p.Lys1032Asn Single submitter ⚠
- p.Lys1074Gln Single submitter ⚠
- p.Lys133Ile Single submitter ⚠
- p.Lys159Arg Single submitter ⚠
- p.Lys309Gln Single submitter ⚠
- p.Lys510Asn Single submitter ⚠
- p.Lys617Glu Single submitter ⚠
- p.Lys626Glu Single submitter ⚠
- p.Lys894Asn Single submitter ⚠
- p.Lys92Thr Single submitter ⚠
- p.Lys97Glu Single submitter ⚠
- p.Lys987Gln Single submitter ⚠
- p.Lys994Asn Single submitter ⚠
- p.Met258Val Single submitter ⚠
- p.Met87Ile Single submitter ⚠
- p.Phe1001Leu Single submitter ⚠
- p.Phe451Val Single submitter ⚠
- p.Phe886Leu Single submitter ⚠
- p.Ser1042Arg Single submitter ⚠
- p.Ser1042Thr Single submitter ⚠
- p.Ser212Asn Single submitter ⚠
- p.Ser466Arg Single submitter ⚠
- p.Ser578Asn Single submitter ⚠
- p.Ser622Asn Single submitter ⚠
- p.Ser679Pro Single submitter ⚠
- p.Ser868Thr Single submitter ⚠
- p.Ser874Thr Single submitter ⚠
- p.Ser918Asn Single submitter ⚠
- p.Ser923Arg Single submitter ⚠
- p.Ser924Leu Single submitter ⚠
- p.Ser969Thr Single submitter ⚠
- p.Thr1019Ile Single submitter ⚠
- p.Thr1071Ala Single submitter ⚠
- p.Thr1071Arg Single submitter ⚠
- p.Thr170Ala Single submitter ⚠
- p.Thr172Ile Single submitter ⚠
- p.Thr387Ile Single submitter ⚠
- p.Thr409Ser Single submitter ⚠
- p.Thr62Ile Single submitter ⚠
- p.Thr802Arg Single submitter ⚠
- p.Tyr108Cys Single submitter ⚠
- p.Tyr233Cys Single submitter ⚠
- p.Tyr51His Single submitter ⚠
- p.Val474Asp Single submitter ⚠
- p.Val512Ile Single submitter ⚠
- p.Val60Leu Single submitter ⚠
- p.Val796Ile Single submitter ⚠