EXOC1 — 90 ClinVar variants
All ClinVar germline EXOC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
1 Benign · 1 Likely benign · 88 Uncertain significance
Full EXOC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EXOC1 p.Ala224Ser Uncertain significance Single submitter
- EXOC1 p.Ala303Ser Uncertain significance Single submitter
- EXOC1 p.Ala71Thr Uncertain significance Single submitter
- EXOC1 p.Arg124Gln Uncertain significance Single submitter
- EXOC1 p.Arg166Lys Uncertain significance Single submitter
- EXOC1 p.Arg335Gln Uncertain significance Single submitter
- EXOC1 p.Arg340Gln Uncertain significance Single submitter
- EXOC1 p.Arg345Gln Uncertain significance Single submitter
- EXOC1 p.Arg46His Uncertain significance Single submitter
- EXOC1 p.Arg485His Uncertain significance Single submitter
- EXOC1 p.Arg562Gln Uncertain significance Single submitter
- EXOC1 p.Arg588His Uncertain significance Single submitter
- EXOC1 p.Arg73Gln Uncertain significance Single submitter
- EXOC1 p.Arg742Gln Uncertain significance Single submitter
- EXOC1 p.Asn265Ser Uncertain significance Single submitter
- EXOC1 p.Asn316Ser Uncertain significance Single submitter
- EXOC1 p.Asn565Asp Uncertain significance Single submitter
- EXOC1 p.Asn595Ser Uncertain significance Single submitter
- EXOC1 p.Asp229Glu Uncertain significance Single submitter
- EXOC1 p.Asp424Asn Uncertain significance Single submitter
- EXOC1 p.Asp577Glu Uncertain significance Single submitter
- EXOC1 p.Gln313Arg Uncertain significance Single submitter
- EXOC1 p.Gln357Pro Uncertain significance Single submitter
- EXOC1 p.Gln517Arg Uncertain significance Single submitter
- EXOC1 p.Gln624Lys Uncertain significance Single submitter
- EXOC1 p.Glu172Lys Uncertain significance Single submitter
- EXOC1 p.Glu254Lys Uncertain significance Single submitter
- EXOC1 p.Glu553Gln Uncertain significance Single submitter
- EXOC1 p.Glu86Gly Uncertain significance Single submitter
- EXOC1 p.His260Asn Uncertain significance Single submitter
- EXOC1 p.His279Asn Uncertain significance Single submitter
- EXOC1 p.His564Pro Uncertain significance Single submitter
- EXOC1 p.His780Arg Uncertain significance Single submitter
- EXOC1 p.Ile216Thr Uncertain significance Single submitter
- EXOC1 p.Ile301Val Uncertain significance Single submitter
- EXOC1 p.Ile688Val Uncertain significance Single submitter
- EXOC1 p.Ile97Thr Uncertain significance Single submitter
- EXOC1 p.Leu672Arg Uncertain significance Single submitter
- EXOC1 p.Leu684Phe Uncertain significance Single submitter
- EXOC1 p.Lys125Arg Uncertain significance Single submitter
- EXOC1 p.Lys51Gln Uncertain significance Single submitter
- EXOC1 p.Lys56Arg Uncertain significance Single submitter
- EXOC1 p.Met411Ile Uncertain significance Single submitter
- EXOC1 p.Met411Val Uncertain significance Single submitter
- EXOC1 p.Met578Thr Uncertain significance Single submitter
- EXOC1 p.Phe94Cys Uncertain significance Single submitter
- EXOC1 p.Pro592Thr Uncertain significance Single submitter
- EXOC1 p.Ser337Ile Uncertain significance Single submitter
- EXOC1 p.Ser451Asn Uncertain significance Single submitter
- EXOC1 p.Ser481Thr Uncertain significance Single submitter
- EXOC1 p.Ser667Asn Uncertain significance Single submitter
- EXOC1 p.Thr150Ala Uncertain significance Single submitter
- EXOC1 p.Thr305Ala Uncertain significance Single submitter
- EXOC1 p.Thr365Ser Uncertain significance Single submitter
- EXOC1 p.Thr44Ala Uncertain significance Single submitter
- EXOC1 p.Thr703Ala Uncertain significance Single submitter
- EXOC1 p.Tyr180Phe Uncertain significance Single submitter
- EXOC1 p.Tyr388His Uncertain significance Single submitter
- EXOC1 p.Tyr64Asn Uncertain significance Single submitter
- EXOC1 p.Val505Ile Uncertain significance Single submitter
- EXOC1 p.Val711Phe Uncertain significance Single submitter
- EXOC1 p.Val728Ile Uncertain significance Single submitter
- EXOC1 p.Val767Ile Uncertain significance Single submitter
- EXOC1 p.Val78Ile Uncertain significance Single submitter
- EXOC1 p.Val846Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- EXOC1 p.Ala185Val Uncertain significance Single submitter
- EXOC1 p.Ala283Val Uncertain significance Single submitter
- EXOC1 p.Arg387Gln Uncertain significance Single submitter
- EXOC1 p.Arg448Pro Uncertain significance Single submitter
- EXOC1 p.Arg485Cys Uncertain significance Single submitter
- EXOC1 p.Arg694His Uncertain significance Single submitter
- EXOC1 p.Asn131Ser Uncertain significance Single submitter
- EXOC1 p.Asp504His Uncertain significance Single submitter
- EXOC1 p.Gln892His Uncertain significance Single submitter
- EXOC1 p.Glu516Gln Uncertain significance Single submitter
- EXOC1 p.Glu516Lys Uncertain significance Single submitter
- EXOC1 p.Glu783Lys Uncertain significance Single submitter
- EXOC1 p.Gly405Arg Uncertain significance Single submitter
- EXOC1 p.Leu326Phe Uncertain significance Single submitter
- EXOC1 p.Lys722Asn Uncertain significance Single submitter
- EXOC1 p.Ser103Asn Uncertain significance Single submitter
- EXOC1 p.Val789Met Uncertain significance Single submitter
All EXOC1 variants
Benign 1
- p.Ala506= Single submitter
Likely benign 1
- p.Tyr180Cys Single submitter
Uncertain significance 88
- p.Ala185Val Single submitter ⚠
- p.Ala224Ser Single submitter ⚠
- p.Ala283Val Single submitter ⚠
- p.Ala303Ser Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg124Trp Single submitter
- p.Arg166Lys Single submitter ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg345Gln Single submitter ⚠
- p.Arg387Gln Single submitter ⚠
- p.Arg448Pro Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg485Cys Single submitter ⚠
- p.Arg485His Single submitter ⚠
- p.Arg562Gln Single submitter ⚠
- p.Arg588His Single submitter ⚠
- p.Arg694His Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Arg742Gln Single submitter ⚠
- p.Arg867Cys Single submitter
- p.Asn131Ser Single submitter ⚠
- p.Asn265Ser Single submitter ⚠
- p.Asn316Ser Single submitter ⚠
- p.Asn565Asp Single submitter ⚠
- p.Asn595Ser Single submitter ⚠
- p.Asp229Glu Single submitter ⚠
- p.Asp424Asn Single submitter ⚠
- p.Asp504His Single submitter ⚠
- p.Asp577Glu Single submitter ⚠
- p.Gln313Arg Single submitter ⚠
- p.Gln357Pro Single submitter ⚠
- p.Gln517Arg Single submitter ⚠
- p.Gln624Lys Single submitter ⚠
- p.Gln892His Single submitter ⚠
- p.Glu172Lys Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu516Gln Single submitter ⚠
- p.Glu516Lys Single submitter ⚠
- p.Glu553Gln Single submitter ⚠
- p.Glu783Lys Single submitter ⚠
- p.Glu86Gly Single submitter ⚠
- p.Gly405Arg Single submitter ⚠
- p.His260Asn Single submitter ⚠
- p.His279Asn Single submitter ⚠
- p.His564Pro Single submitter ⚠
- p.His780Arg Single submitter ⚠
- p.Ile216Thr Single submitter ⚠
- p.Ile301Val Single submitter ⚠
- p.Ile688Val Single submitter ⚠
- p.Ile97Thr Single submitter ⚠
- p.Leu326Phe Single submitter ⚠
- p.Leu672Arg Single submitter ⚠
- p.Leu684Phe Single submitter ⚠
- p.Lys125Arg Single submitter ⚠
- p.Lys125Glu Single submitter
- p.Lys51Gln Single submitter ⚠
- p.Lys56Arg Single submitter ⚠
- p.Lys722Asn Single submitter ⚠
- p.Met411Ile Single submitter ⚠
- p.Met411Val Single submitter ⚠
- p.Met578Thr Single submitter ⚠
- p.Phe94Cys Single submitter ⚠
- p.Pro592Thr Single submitter ⚠
- p.Pro88Leu Single submitter
- p.Ser103Asn Single submitter ⚠
- p.Ser337Ile Single submitter ⚠
- p.Ser363Ile Single submitter
- p.Ser451Asn Single submitter ⚠
- p.Ser481Thr Single submitter ⚠
- p.Ser667Asn Single submitter ⚠
- p.Thr150Ala Single submitter ⚠
- p.Thr305Ala Single submitter ⚠
- p.Thr365Ser Single submitter ⚠
- p.Thr44Ala Single submitter ⚠
- p.Thr703Ala Single submitter ⚠
- p.Tyr180Phe Single submitter ⚠
- p.Tyr388His Single submitter ⚠
- p.Tyr64Asn Single submitter ⚠
- p.Val505Ile Single submitter ⚠
- p.Val711Phe Single submitter ⚠
- p.Val716Ala Single submitter
- p.Val728Ile Single submitter ⚠
- p.Val767Ile Single submitter ⚠
- p.Val789Met Single submitter ⚠
- p.Val78Ile Single submitter ⚠
- p.Val846Leu Single submitter ⚠