CSAD — 80 ClinVar variants
All ClinVar germline CSAD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
3 Benign · 4 Likely benign · 73 Uncertain significance
Full CSAD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSAD p.Arg136Gln Uncertain significance Single submitter
- CSAD p.Arg327His Uncertain significance Single submitter
- CSAD p.Arg327Leu Uncertain significance Single submitter
- CSAD p.Arg358His Uncertain significance Single submitter
- CSAD p.Arg380His Uncertain significance Single submitter
- CSAD p.Arg380Ser Uncertain significance Single submitter
- CSAD p.Arg422Gln Uncertain significance Single submitter
- CSAD p.Arg461Trp Uncertain significance Single submitter
- CSAD p.Arg466Cys Uncertain significance Single submitter
- CSAD p.Arg466His Uncertain significance Single submitter
- CSAD p.Arg88Pro Uncertain significance Single submitter
- CSAD p.Asn112Asp Uncertain significance Single submitter
- CSAD p.Asp214His Uncertain significance Single submitter
- CSAD p.Cys328Arg Uncertain significance Single submitter
- CSAD p.Cys362Trp Uncertain significance Single submitter
- CSAD p.Gln372Glu Uncertain significance Single submitter
- CSAD p.Gly12Glu Uncertain significance Single submitter
- CSAD p.Gly26Ala Uncertain significance Single submitter
- CSAD p.Gly449Ser Uncertain significance Single submitter
- CSAD p.Gly459Arg Uncertain significance Single submitter
- CSAD p.His329Arg Uncertain significance Single submitter
- CSAD p.Met157Thr Uncertain significance Single submitter
- CSAD p.Met479Val Uncertain significance Single submitter
- CSAD p.Pro418Ser Uncertain significance Single submitter
- CSAD p.Thr117Ile Uncertain significance Single submitter
- CSAD p.Trp141Cys Uncertain significance Single submitter
- CSAD p.Trp269Arg Uncertain significance Single submitter
- CSAD p.Val123Met Uncertain significance Single submitter
- CSAD p.Val469Leu Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- CSAD p.Ala231Thr Uncertain significance Single submitter
- CSAD p.Ala308Thr Likely benign Single submitter
- CSAD p.Ala438Val Uncertain significance Single submitter
- CSAD p.Arg105Cys Uncertain significance Single submitter
- CSAD p.Arg136Trp Uncertain significance Single submitter
- CSAD p.Arg177Pro Uncertain significance Single submitter
- CSAD p.Arg209Gln Uncertain significance Single submitter
- CSAD p.Arg22Leu Uncertain significance Single submitter
- CSAD p.Arg265His Uncertain significance Single submitter
- CSAD p.Arg379Trp Uncertain significance Single submitter
- CSAD p.Arg389Trp Uncertain significance Single submitter
- CSAD p.Arg398Trp Uncertain significance Single submitter
- CSAD p.Arg488Gln Uncertain significance Single submitter
- CSAD p.Arg73Trp Uncertain significance Single submitter
- CSAD p.Asn91Ser Uncertain significance Single submitter
- CSAD p.Asp320Gly Uncertain significance Single submitter
- CSAD p.Gly85Asp Uncertain significance Single submitter
- CSAD p.Leu482Phe Uncertain significance Single submitter
- CSAD p.Leu483Phe Uncertain significance Single submitter
- CSAD p.Leu7His Uncertain significance Single submitter
- CSAD p.Lys436Glu Uncertain significance Single submitter
- CSAD p.Lys442Arg Uncertain significance Single submitter
- CSAD p.Phe481Ile Uncertain significance Single submitter
- CSAD p.Phe89Tyr Uncertain significance Single submitter
- CSAD p.Pro180Leu Uncertain significance Single submitter
- CSAD p.Pro255Arg Uncertain significance Single submitter
- CSAD p.Pro303Thr Uncertain significance Single submitter
- CSAD p.Pro419Ala Uncertain significance Single submitter
- CSAD p.Pro419Arg Uncertain significance Single submitter
- CSAD p.Pro419Thr Uncertain significance Single submitter
- CSAD p.Ser322Leu Uncertain significance Single submitter
- CSAD p.Ser331Tyr Uncertain significance Single submitter
- CSAD p.Thr205Ala Uncertain significance Single submitter
- CSAD p.Thr349Met Uncertain significance Single submitter
- CSAD p.Tyr165Cys Uncertain significance Single submitter
- CSAD p.Val131Met Uncertain significance Single submitter
- CSAD p.Val417Glu Uncertain significance Single submitter
- CSAD p.Val440Gly Uncertain significance Single submitter
- CSAD p.Val440Met Uncertain significance Single submitter
All CSAD variants
Likely benign 4
- c.-26C>T Single submitter
- p.Ala308Thr Single submitter ⚠
- p.Arg389= Single submitter
- p.Ser66= Single submitter
Uncertain significance 73
- c.-21C>T Single submitter
- c.-24G>T Single submitter
- c.-27C>T Single submitter
- c.-33C>G Single submitter
- c.-48A>G Single submitter
- c.-90-660A>G Single submitter
- p.Ala231Thr Single submitter ⚠
- p.Ala438Val Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg177Pro Single submitter ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg22Leu Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg327His Single submitter ⚠
- p.Arg327Leu Single submitter ⚠
- p.Arg358His Single submitter ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg380His Single submitter ⚠
- p.Arg380Ser Single submitter ⚠
- p.Arg389Trp Single submitter ⚠
- p.Arg398Trp Single submitter ⚠
- p.Arg422Gln Single submitter ⚠
- p.Arg461Trp Single submitter ⚠
- p.Arg466Cys Single submitter ⚠
- p.Arg466His Single submitter ⚠
- p.Arg488Gln Single submitter ⚠
- p.Arg73Trp Single submitter ⚠
- p.Arg88Pro Single submitter ⚠
- p.Asn112Asp Single submitter ⚠
- p.Asn91Ser Single submitter ⚠
- p.Asp214His Single submitter ⚠
- p.Asp320Gly Single submitter ⚠
- p.Cys328Arg Single submitter ⚠
- p.Cys362Trp Single submitter ⚠
- p.Gln372Glu Single submitter ⚠
- p.Gly12Glu Single submitter ⚠
- p.Gly26Ala Single submitter ⚠
- p.Gly449Ser Single submitter ⚠
- p.Gly459Arg Single submitter ⚠
- p.Gly85Asp Single submitter ⚠
- p.His329Arg Single submitter ⚠
- p.Leu482Phe Single submitter ⚠
- p.Leu483Phe Single submitter ⚠
- p.Leu7His Single submitter ⚠
- p.Lys436Glu Single submitter ⚠
- p.Lys442Arg Single submitter ⚠
- p.Met157Thr Single submitter ⚠
- p.Met479Val Single submitter ⚠
- p.Phe481Ile Single submitter ⚠
- p.Phe89Tyr Single submitter ⚠
- p.Pro180Leu Single submitter ⚠
- p.Pro255Arg Single submitter ⚠
- p.Pro303Thr Single submitter ⚠
- p.Pro418Ser Single submitter ⚠
- p.Pro419Ala Single submitter ⚠
- p.Pro419Arg Single submitter ⚠
- p.Pro419Thr Single submitter ⚠
- p.Ser322Leu Single submitter ⚠
- p.Ser331Tyr Single submitter ⚠
- p.Thr117Ile Single submitter ⚠
- p.Thr205Ala Single submitter ⚠
- p.Thr349Met Single submitter ⚠
- p.Trp141Cys Single submitter ⚠
- p.Trp269Arg Single submitter ⚠
- p.Tyr165Cys Single submitter ⚠
- p.Val123Met Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val417Glu Single submitter ⚠
- p.Val440Gly Single submitter ⚠
- p.Val440Met Single submitter ⚠
- p.Val469Leu Single submitter ⚠