COP1 — 80 ClinVar variants
All ClinVar germline COP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
4 Benign · 5 Likely benign · 71 Uncertain significance
Full COP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COP1 p.Ala117Val Uncertain significance Single submitter
- COP1 p.Ala12Ser Uncertain significance Single submitter
- COP1 p.Ala457Val Uncertain significance Single submitter
- COP1 p.Ala7Val Uncertain significance Single submitter
- COP1 p.Arg384Gln Uncertain significance Single submitter
- COP1 p.Arg431Trp Uncertain significance Single submitter
- COP1 p.Asn274Ser Uncertain significance Single submitter
- COP1 p.Asn544Ser Uncertain significance Single submitter
- COP1 p.Asn651Ser Uncertain significance Single submitter
- COP1 p.Asp681Glu Uncertain significance Single submitter
- COP1 p.Cys433Tyr Uncertain significance Single submitter
- COP1 p.Gln388Arg Uncertain significance Single submitter
- COP1 p.Gly3Asp Uncertain significance Single submitter
- COP1 p.His161Arg Uncertain significance Single submitter
- COP1 p.His322Tyr Uncertain significance Single submitter
- COP1 p.Ile221Met Uncertain significance Single submitter
- COP1 p.Ile221Val Uncertain significance Single submitter
- COP1 p.Ile263Val Uncertain significance Single submitter
- COP1 p.Ile592Ser Uncertain significance Single submitter
- COP1 p.Ile592Val Uncertain significance Single submitter
- COP1 p.Leu123Phe Uncertain significance Single submitter
- COP1 p.Leu61Arg Uncertain significance Single submitter
- COP1 p.Leu86Pro Uncertain significance Single submitter
- COP1 p.Lys130Arg Uncertain significance Single submitter
- COP1 p.Lys344Glu Uncertain significance Single submitter
- COP1 p.Lys507Glu Uncertain significance Single submitter
- COP1 p.Phe200Ser Uncertain significance Single submitter
- COP1 p.Pro305Ser Uncertain significance Single submitter
- COP1 p.Ser131Asn Uncertain significance Single submitter
- COP1 p.Ser332Arg Uncertain significance Single submitter
- COP1 p.Ser351Asn Uncertain significance Single submitter
- COP1 p.Ser380Leu Uncertain significance Single submitter
- COP1 p.Ser415Asn Uncertain significance Single submitter
- COP1 p.Ser96Thr Uncertain significance Single submitter
- COP1 p.Thr214Ser Uncertain significance Single submitter
- COP1 p.Tyr175His Uncertain significance Single submitter
- COP1 p.Tyr654Cys Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- COP1 p.Arg295Thr Benign Multiple submitters
- COP1 p.Ala354Val Uncertain significance Single submitter
- COP1 p.Arg378Cys Uncertain significance Single submitter
- COP1 p.Asn125Lys Uncertain significance Single submitter
- COP1 p.Asn237Ile Uncertain significance Single submitter
- COP1 p.Asn419Ser Uncertain significance Single submitter
- COP1 p.Asn714His Uncertain significance Single submitter
- COP1 p.Asp129Asn Uncertain significance Single submitter
- COP1 p.Asp229Gly Uncertain significance Single submitter
- COP1 p.Asp231His Uncertain significance Single submitter
- COP1 p.Asp688Asn Uncertain significance Single submitter
- COP1 p.Glu291Gln Uncertain significance Single submitter
- COP1 p.Gly63Asp Uncertain significance Single submitter
- COP1 p.Ile655Val Uncertain significance Single submitter
- COP1 p.Lys249Arg Uncertain significance Single submitter
- COP1 p.Lys398Thr Uncertain significance Single submitter
- COP1 p.Pro407Ser Uncertain significance Single submitter
- COP1 p.Pro591Ala Uncertain significance Single submitter
- COP1 p.Ser11Thr Uncertain significance Single submitter
- COP1 p.Ser15Asn Uncertain significance Single submitter
- COP1 p.Ser28Phe Uncertain significance Single submitter
- COP1 p.Ser28Thr Uncertain significance Single submitter
- COP1 p.Ser2Phe Uncertain significance Single submitter
- COP1 p.Ser304Cys Uncertain significance Single submitter
- COP1 p.Ser328Tyr Uncertain significance Single submitter
- COP1 p.Ser341Phe Uncertain significance Single submitter
- COP1 p.Ser34Phe Uncertain significance Single submitter
- COP1 p.Ser58Trp Uncertain significance Single submitter
- COP1 p.Thr352Met Uncertain significance Single submitter
- COP1 p.Thr84Met Uncertain significance Single submitter
- COP1 p.Val177Met Uncertain significance Single submitter
- COP1 p.Val288Asp Uncertain significance Single submitter
- COP1 p.Val495Ile Uncertain significance Single submitter
- COP1 p.Val68Met Uncertain significance Single submitter
- COP1 p.Val715Met Uncertain significance Single submitter
All COP1 variants
Benign 4
- p.Arg295Thr Multiple submitters ⚠
- p.Met299Val Multiple submitters
- c.1142-10_1142-8del Single submitter
- p.Lys589= Single submitter
Likely benign 5
- c.1142-7C>T Multiple submitters
- c.1142-8T>C Single submitter
- p.Gln262His Single submitter
- p.Lys514= Single submitter
- p.Val703= Single submitter
Uncertain significance 71
- p.Ala117Val Single submitter ⚠
- p.Ala12Ser Single submitter ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala457Val Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg378Cys Single submitter ⚠
- p.Arg384Gln Single submitter ⚠
- p.Arg431Trp Single submitter ⚠
- p.Asn125Lys Single submitter ⚠
- p.Asn237Ile Single submitter ⚠
- p.Asn274Ser Single submitter ⚠
- p.Asn419Ser Single submitter ⚠
- p.Asn544Ser Single submitter ⚠
- p.Asn651Ser Single submitter ⚠
- p.Asn714His Single submitter ⚠
- p.Asp129Asn Single submitter ⚠
- p.Asp229Gly Single submitter ⚠
- p.Asp231His Single submitter ⚠
- p.Asp681Glu Single submitter ⚠
- p.Asp688Asn Single submitter ⚠
- p.Cys433Tyr Single submitter ⚠
- p.Gln388Arg Single submitter ⚠
- p.Glu291Gln Single submitter ⚠
- p.Gly3Asp Single submitter ⚠
- p.Gly63Asp Single submitter ⚠
- p.His161Arg Single submitter ⚠
- p.His322Tyr Single submitter ⚠
- p.Ile221Met Single submitter ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile263Val Single submitter ⚠
- p.Ile592Ser Single submitter ⚠
- p.Ile592Val Single submitter ⚠
- p.Ile655Val Single submitter ⚠
- p.Leu123Phe Single submitter ⚠
- p.Leu61Arg Single submitter ⚠
- p.Leu86Pro Single submitter ⚠
- p.Lys130Arg Single submitter ⚠
- p.Lys249Arg Single submitter ⚠
- p.Lys344Glu Single submitter ⚠
- p.Lys398Thr Single submitter ⚠
- p.Lys507Glu Single submitter ⚠
- p.Phe200Ser Single submitter ⚠
- p.Pro305Ser Single submitter ⚠
- p.Pro407Ser Single submitter ⚠
- p.Pro591Ala Single submitter ⚠
- p.Ser11Thr Single submitter ⚠
- p.Ser131Asn Single submitter ⚠
- p.Ser15Asn Single submitter ⚠
- p.Ser28Phe Single submitter ⚠
- p.Ser28Thr Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Ser304Cys Single submitter ⚠
- p.Ser328Tyr Single submitter ⚠
- p.Ser332Arg Single submitter ⚠
- p.Ser341Phe Single submitter ⚠
- p.Ser34Phe Single submitter ⚠
- p.Ser351Asn Single submitter ⚠
- p.Ser380Leu Single submitter ⚠
- p.Ser415Asn Single submitter ⚠
- p.Ser58Trp Single submitter ⚠
- p.Ser96Thr Single submitter ⚠
- p.Thr214Ser Single submitter ⚠
- p.Thr352Met Single submitter ⚠
- p.Thr84Met Single submitter ⚠
- p.Tyr175His Single submitter ⚠
- p.Tyr654Cys Single submitter ⚠
- p.Val177Met Single submitter ⚠
- p.Val288Asp Single submitter ⚠
- p.Val495Ile Single submitter ⚠
- p.Val68Met Single submitter ⚠
- p.Val715Met Single submitter ⚠