COPG1 — 144 ClinVar variants

All ClinVar germline COPG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

17 Benign · 2 Benign/Likely benign · 7 Likely benign · 118 Uncertain significance

Full COPG1 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 66

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

Predictors split 51

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

All COPG1 variants

Benign 17

c.91-11T>C Multiple submitters
c.939+13C>G Multiple submitters
p.His221= Multiple submitters
p.Leu277= Multiple submitters
p.Pro287= Multiple submitters
c.1224+10del Single submitter
c.1224+19C>T Single submitter
c.1545-65A>C Single submitter
c.1775-45G>A Single submitter
c.1843+56T>A Single submitter
c.38-14G>T Single submitter
c.399+12C>G Single submitter
c.492+58A>C Single submitter
c.579+15A>G Single submitter
p.His826= Single submitter
p.Lys414= Single submitter
p.Tyr472= Single submitter

Benign/Likely benign 2

p.Ile92= Multiple submitters
p.Leu240Val Multiple submitters ⚠

Likely benign 7

p.Asp867= Single submitter
p.Gly122= Single submitter
p.Ile357= Single submitter
p.Ile55Thr Single submitter ⚠
p.Thr64= Single submitter
p.Thr644= Single submitter
p.Val308= Single submitter

Uncertain significance 118

p.Arg247His Multiple submitters ⚠
p.Leu864Met Multiple submitters ⚠
p.Thr64Met Multiple submitters ⚠
c.171+6A>G Single submitter
c.1774+7C>T Single submitter
p.Ala124Pro Single submitter ⚠
p.Ala124Thr Single submitter ⚠
p.Ala196Thr Single submitter ⚠
p.Ala271Ser Single submitter ⚠
p.Ala271Thr Single submitter ⚠
p.Ala301Ser Single submitter ⚠
p.Ala395Thr Single submitter ⚠
p.Ala494Thr Single submitter ⚠
p.Ala584Val Single submitter ⚠
p.Ala587Thr Single submitter ⚠
p.Ala619Gly Single submitter ⚠
p.Ala695Val Single submitter ⚠
p.Arg126Gln Single submitter ⚠
p.Arg220Trp Single submitter ⚠
p.Arg260His Single submitter ⚠
p.Arg32His Single submitter ⚠
p.Arg415His Single submitter ⚠
p.Arg474Gly Single submitter ⚠
p.Arg474His Single submitter ⚠
p.Arg527Gln Single submitter ⚠
p.Arg624Cys Single submitter ⚠
p.Arg624His Single submitter ⚠
p.Arg696Gln Single submitter ⚠
p.Arg815Lys Single submitter ⚠
p.Arg843Cys Single submitter ⚠
p.Arg85Cys Single submitter ⚠
p.Arg86Gln Single submitter ⚠
p.Arg86Trp Single submitter ⚠
p.Asn261Lys Single submitter ⚠
p.Asn276Ser Single submitter ⚠
p.Asn312Ser Single submitter ⚠
p.Asn428Asp Single submitter ⚠
p.Asn522Asp Single submitter ⚠
p.Asn701Ser Single submitter ⚠
p.Asn771Thr Single submitter ⚠
p.Asp519Val Single submitter ⚠
p.Asp671Asn Single submitter ⚠
p.Asp755His Single submitter ⚠
p.Cys97Ser Single submitter ⚠
p.Gln610Arg Single submitter ⚠
p.Glu10Lys Single submitter ⚠
p.Glu183Asp Single submitter ⚠
p.Glu256Lys Single submitter ⚠
p.Glu269Gly Single submitter ⚠
p.Glu641Lys Single submitter ⚠
p.Glu745Lys Single submitter ⚠
p.Glu773Lys Single submitter ⚠
p.Glu862Lys Single submitter ⚠
p.Gly409Cys Single submitter ⚠
p.Gly625Ser Single submitter ⚠
p.Gly62Arg Single submitter ⚠
p.Gly704Arg Single submitter ⚠
p.His221Arg Single submitter ⚠
p.His438Tyr Single submitter ⚠
p.His60Leu Single submitter ⚠
p.Ile140Val Single submitter ⚠
p.Ile233Thr Single submitter ⚠
p.Ile417Met Single submitter ⚠
p.Ile417Val Single submitter ⚠
p.Ile421Val Single submitter ⚠
p.Ile424Val Single submitter ⚠
p.Ile509Val Single submitter ⚠
p.Ile55Leu Single submitter ⚠
p.Ile869Val Single submitter ⚠
p.Ile98Leu Single submitter ⚠
p.Leu48Val Single submitter ⚠
p.Leu629Phe Single submitter ⚠
p.Leu830Pro Single submitter ⚠
p.Lys785Asn Single submitter ⚠
p.Met214Ile Single submitter ⚠
p.Met231Thr Single submitter ⚠
p.Met232Thr Single submitter ⚠
p.Met361Ile Single submitter ⚠
p.Met518Thr Single submitter ⚠
p.Met73Thr Single submitter ⚠
p.Phe367Cys Single submitter ⚠
p.Phe5Ser Single submitter ⚠
p.Pro319Leu Single submitter ⚠
p.Pro38Ser Single submitter ⚠
p.Pro507Arg Single submitter ⚠
p.Pro507His Single submitter ⚠
p.Pro812Ala Single submitter ⚠
p.Pro820Leu Single submitter ⚠
p.Pro82Leu Single submitter ⚠
p.Ser134Ile Single submitter ⚠
p.Ser154Gly Single submitter ⚠
p.Ser154Ile Single submitter ⚠
p.Ser157Thr Single submitter ⚠
p.Ser272Leu Single submitter ⚠
p.Ser372Leu Single submitter ⚠
p.Ser372Trp Single submitter ⚠
p.Ser633Leu Single submitter ⚠
p.Thr342Met Single submitter ⚠
p.Thr583Met Single submitter ⚠
p.Thr644Met Single submitter ⚠
p.Thr718Ile Single submitter ⚠
p.Thr91Ile Single submitter ⚠
p.Tyr477Cys Single submitter ⚠
p.Tyr531Cys Single submitter ⚠
p.Tyr53His Single submitter ⚠
p.Tyr692Asn Single submitter ⚠
p.Val155Asp Single submitter ⚠
p.Val275Ile Single submitter ⚠
p.Val308Ile Single submitter ⚠
p.Val33Ile Single submitter ⚠
p.Val524Glu Single submitter ⚠
p.Val534Ala Single submitter ⚠
p.Val677Ile Single submitter ⚠
p.Val693Leu Single submitter ⚠
p.Val752Ala Single submitter ⚠
p.Val801Ala Single submitter ⚠
p.Val842= Single submitter
p.Val856Met Single submitter ⚠