COG3 — 87 ClinVar variants
All ClinVar germline COG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →
2 Likely benign · 85 Uncertain significance
Full COG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 85
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COG3 p.Ala227Thr Uncertain significance Single submitter
- COG3 p.Ala364Ser Uncertain significance Single submitter
- COG3 p.Ala4Pro Uncertain significance Single submitter
- COG3 p.Ala575Val Uncertain significance Single submitter
- COG3 p.Ala741Thr Uncertain significance Single submitter
- COG3 p.Arg27Trp Uncertain significance Single submitter
- COG3 p.Arg38Lys Uncertain significance Single submitter
- COG3 p.Asn167Ser Uncertain significance Single submitter
- COG3 p.Asn241Asp Uncertain significance Single submitter
- COG3 p.Asn432Ser Uncertain significance Single submitter
- COG3 p.Asn538Ser Uncertain significance Single submitter
- COG3 p.Asp282Glu Uncertain significance Single submitter
- COG3 p.Glu75Lys Uncertain significance Single submitter
- COG3 p.Ile247Met Uncertain significance Single submitter
- COG3 p.Ile314Val Uncertain significance Single submitter
- COG3 p.Ile545Val Uncertain significance Single submitter
- COG3 p.Ile61Val Uncertain significance Single submitter
- COG3 p.Ile74Thr Uncertain significance Single submitter
- COG3 p.Leu24Phe Uncertain significance Single submitter
- COG3 p.Leu336Val Uncertain significance Single submitter
- COG3 p.Leu420Ser Uncertain significance Single submitter
- COG3 p.Leu44Ser Uncertain significance Single submitter
- COG3 p.Leu592Phe Uncertain significance Single submitter
- COG3 p.Lys126Glu Uncertain significance Single submitter
- COG3 p.Lys507Arg Uncertain significance Single submitter
- COG3 p.Lys601Arg Uncertain significance Single submitter
- COG3 p.Met725Val Uncertain significance Single submitter
- COG3 p.Met817Val Uncertain significance Single submitter
- COG3 p.Phe630Leu Uncertain significance Single submitter
- COG3 p.Phe715Leu Uncertain significance Single submitter
- COG3 p.Pro391Ser Uncertain significance Single submitter
- COG3 p.Pro539Arg Uncertain significance Single submitter
- COG3 p.Ser276Arg Uncertain significance Single submitter
- COG3 p.Ser663Asn Uncertain significance Single submitter
- COG3 p.Ser685Pro Uncertain significance Single submitter
- COG3 p.Thr273Ser Uncertain significance Single submitter
- COG3 p.Thr32Met Uncertain significance Single submitter
- COG3 p.Thr40Arg Uncertain significance Single submitter
- COG3 p.Trp554Ser Uncertain significance Single submitter
- COG3 p.Val434Met Uncertain significance Single submitter
- COG3 p.Val709Ile Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
- COG3 p.Ala14Val Uncertain significance Single submitter
- COG3 p.Ala190Gly Uncertain significance Single submitter
- COG3 p.Ala227Asp Uncertain significance Single submitter
- COG3 p.Ala2Val Uncertain significance Single submitter
- COG3 p.Ala302Gly Uncertain significance Single submitter
- COG3 p.Ala482Val Uncertain significance Single submitter
- COG3 p.Arg317Gln Uncertain significance Single submitter
- COG3 p.Arg657Thr Uncertain significance Single submitter
- COG3 p.Arg691Cys Uncertain significance Single submitter
- COG3 p.Asn774Ser Uncertain significance Single submitter
- COG3 p.Asp490Asn Uncertain significance Single submitter
- COG3 p.Asp490His Uncertain significance Single submitter
- COG3 p.Asp504Asn Uncertain significance Single submitter
- COG3 p.Cys588Gly Uncertain significance Single submitter
- COG3 p.Gln129Arg Uncertain significance Single submitter
- COG3 p.Gln129Pro Uncertain significance Single submitter
- COG3 p.Gln455Glu Uncertain significance Single submitter
- COG3 p.Gln742Pro Uncertain significance Single submitter
- COG3 p.Glu319Lys Uncertain significance Single submitter
-
COG3 p.Glu82Lys
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIbb
- COG3 p.His261Arg Uncertain significance Single submitter
- COG3 p.Ile476Leu Uncertain significance Single submitter
- COG3 p.Ile613Val Uncertain significance Single submitter
- COG3 p.Ile812Thr Uncertain significance Single submitter
- COG3 p.Leu115Met Uncertain significance Single submitter
- COG3 p.Leu134Phe Uncertain significance Single submitter
- COG3 p.Leu592Val Uncertain significance Single submitter
- COG3 p.Leu671Val Uncertain significance Single submitter
- COG3 p.Met119Thr Uncertain significance Single submitter
- COG3 p.Met495Ile Uncertain significance Single submitter
- COG3 p.Met553Val Uncertain significance Single submitter
- COG3 p.Pro739Ser Uncertain significance Single submitter
- COG3 p.Pro806Ser Uncertain significance Single submitter
- COG3 p.Ser424Leu Uncertain significance Single submitter
- COG3 p.Ser66Cys Uncertain significance Single submitter
- COG3 p.Ser805Ile Uncertain significance Single submitter
- COG3 p.Ser83Tyr Uncertain significance Single submitter
- COG3 p.Thr477Met Uncertain significance Single submitter
- COG3 p.Thr604Ile Uncertain significance Single submitter
- COG3 p.Tyr754Cys Uncertain significance Single submitter
- COG3 p.Val374Phe Uncertain significance Single submitter
- COG3 p.Val439Met Uncertain significance Single submitter
- COG3 p.Val689Ile Uncertain significance Single submitter
- COG3 p.Val792Ile Uncertain significance Single submitter
All COG3 variants
Likely benign 2
- p.Ala750Val Single submitter
- p.Thr759Ala Single submitter
Uncertain significance 85
- p.Ala14Val Single submitter ⚠
- p.Ala190Gly Single submitter ⚠
- p.Ala227Asp Single submitter ⚠
- p.Ala227Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala302Gly Single submitter ⚠
- p.Ala364Ser Single submitter ⚠
- p.Ala482Val Single submitter ⚠
- p.Ala4Pro Single submitter ⚠
- p.Ala575Val Single submitter ⚠
- p.Ala741Thr Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg317Gln Single submitter ⚠
- p.Arg38Lys Single submitter ⚠
- p.Arg657Thr Single submitter ⚠
- p.Arg691Cys Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asn241Asp Single submitter ⚠
- p.Asn432Ser Single submitter ⚠
- p.Asn538Ser Single submitter ⚠
- p.Asn774Ser Single submitter ⚠
- p.Asp282Glu Single submitter ⚠
- p.Asp490Asn Single submitter ⚠
- p.Asp490His Single submitter ⚠
- p.Asp504Asn Single submitter ⚠
- p.Cys588Gly Single submitter ⚠
- p.Gln129Arg Single submitter ⚠
- p.Gln129Pro Single submitter ⚠
- p.Gln455Glu Single submitter ⚠
- p.Gln742Pro Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Glu82Lys Single submitter congenital disorder of glycosylation, type IIbb ⚠
- p.His261Arg Single submitter ⚠
- p.Ile247Met Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile476Leu Single submitter ⚠
- p.Ile545Val Single submitter ⚠
- p.Ile613Val Single submitter ⚠
- p.Ile61Val Single submitter ⚠
- p.Ile74Thr Single submitter ⚠
- p.Ile812Thr Single submitter ⚠
- p.Leu115Met Single submitter ⚠
- p.Leu134Phe Single submitter ⚠
- p.Leu24Phe Single submitter ⚠
- p.Leu336Val Single submitter ⚠
- p.Leu420Ser Single submitter ⚠
- p.Leu44Ser Single submitter ⚠
- p.Leu592Phe Single submitter ⚠
- p.Leu592Val Single submitter ⚠
- p.Leu671Val Single submitter ⚠
- p.Lys126Glu Single submitter ⚠
- p.Lys507Arg Single submitter ⚠
- p.Lys601Arg Single submitter ⚠
- p.Met119Thr Single submitter ⚠
- p.Met495Ile Single submitter ⚠
- p.Met553Val Single submitter ⚠
- p.Met725Val Single submitter ⚠
- p.Met817Val Single submitter ⚠
- p.Phe630Leu Single submitter ⚠
- p.Phe715Leu Single submitter ⚠
- p.Pro391Ser Single submitter ⚠
- p.Pro539Arg Single submitter ⚠
- p.Pro739Ser Single submitter ⚠
- p.Pro806Ser Single submitter ⚠
- p.Ser276Arg Single submitter ⚠
- p.Ser424Leu Single submitter ⚠
- p.Ser663Asn Single submitter ⚠
- p.Ser66Cys Single submitter ⚠
- p.Ser685Pro Single submitter ⚠
- p.Ser805Ile Single submitter ⚠
- p.Ser83Tyr Single submitter ⚠
- p.Thr273Ser Single submitter ⚠
- p.Thr32Met Single submitter ⚠
- p.Thr40Arg Single submitter ⚠
- p.Thr477Met Single submitter ⚠
- p.Thr604Ile Single submitter ⚠
- p.Trp554Ser Single submitter ⚠
- p.Tyr754Cys Single submitter ⚠
- p.Val374Phe Single submitter ⚠
- p.Val434Met Single submitter ⚠
- p.Val439Met Single submitter ⚠
- p.Val689Ile Single submitter ⚠
- p.Val709Ile Single submitter ⚠
- p.Val792Ile Single submitter ⚠