COIL — 94 ClinVar variants
All ClinVar germline COIL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
2 Benign · 5 Likely benign · 87 Uncertain significance
Full COIL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COIL p.Ala362Ser Uncertain significance Single submitter
- COIL p.Ala69Thr Uncertain significance Single submitter
- COIL p.Arg352Leu Uncertain significance Single submitter
- COIL p.Arg46Leu Uncertain significance Single submitter
- COIL p.Asn140Ser Uncertain significance Single submitter
- COIL p.Asn141Lys Uncertain significance Single submitter
- COIL p.Asn162Asp Uncertain significance Single submitter
- COIL p.Asn213Ser Uncertain significance Single submitter
- COIL p.Asn78Asp Uncertain significance Single submitter
- COIL p.Asp101Gly Uncertain significance Single submitter
- COIL p.Asp147Gly Uncertain significance Single submitter
- COIL p.Asp325Asn Uncertain significance Single submitter
- COIL p.Asp460His Uncertain significance Single submitter
- COIL p.Asp79Tyr Uncertain significance Single submitter
- COIL p.Gln360Glu Uncertain significance Single submitter
- COIL p.Glu267Val Uncertain significance Single submitter
- COIL p.Gly221Ser Uncertain significance Single submitter
- COIL p.Gly221Val Uncertain significance Single submitter
- COIL p.Gly234Val Uncertain significance Single submitter
- COIL p.Gly299Asp Uncertain significance Single submitter
- COIL p.Gly63Arg Uncertain significance Single submitter
- COIL p.Gly63Trp Uncertain significance Single submitter
- COIL p.Ile257Val Uncertain significance Single submitter
- COIL p.Ile296Val Uncertain significance Single submitter
- COIL p.Ile449Val Uncertain significance Single submitter
- COIL p.Ile450Phe Uncertain significance Single submitter
- COIL p.Lys181Arg Uncertain significance Single submitter
- COIL p.Lys274Ile Uncertain significance Single submitter
- COIL p.Lys287Arg Uncertain significance Single submitter
- COIL p.Lys306Arg Uncertain significance Single submitter
- COIL p.Phe340Tyr Uncertain significance Single submitter
- COIL p.Phe347Ser Uncertain significance Single submitter
- COIL p.Phe402Ser Uncertain significance Single submitter
- COIL p.Phe553Leu Uncertain significance Single submitter
- COIL p.Phe56Cys Uncertain significance Single submitter
- COIL p.Pro203Leu Uncertain significance Single submitter
- COIL p.Pro219Ala Uncertain significance Single submitter
- COIL p.Pro219Ser Uncertain significance Single submitter
- COIL p.Pro334Leu Uncertain significance Single submitter
- COIL p.Pro471Thr Uncertain significance Single submitter
- COIL p.Ser235Arg Uncertain significance Single submitter
- COIL p.Ser386Pro Uncertain significance Single submitter
- COIL p.Ser403Ala Uncertain significance Single submitter
- COIL p.Ser446Pro Uncertain significance Single submitter
- COIL p.Ser493Cys Uncertain significance Single submitter
- COIL p.Ser568Gly Uncertain significance Single submitter
- COIL p.Ser572Asn Uncertain significance Single submitter
- COIL p.Thr122Pro Uncertain significance Single submitter
- COIL p.Thr361Ala Uncertain significance Single submitter
- COIL p.Thr448Ala Uncertain significance Single submitter
- COIL p.Trp211Cys Uncertain significance Single submitter
- COIL p.Trp395Arg Uncertain significance Single submitter
- COIL p.Tyr461Ser Uncertain significance Single submitter
- COIL p.Val344Ile Uncertain significance Single submitter
- COIL p.Val90Ile Uncertain significance Single submitter
- COIL p.Val90Leu Uncertain significance Single submitter
- COIL p.Val96Ala Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- COIL p.Arg112Trp Uncertain significance Single submitter
- COIL p.Arg352Cys Likely benign Single submitter
- COIL p.Arg352His Uncertain significance Single submitter
- COIL p.Arg369Cys Uncertain significance Single submitter
- COIL p.Arg410Gln Uncertain significance Single submitter
- COIL p.Arg417Gly Uncertain significance Single submitter
- COIL p.Asp147Tyr Uncertain significance Single submitter
- COIL p.Glu497Gln Uncertain significance Single submitter
- COIL p.Gly363Asp Uncertain significance Single submitter
- COIL p.Gly396Asp Uncertain significance Single submitter
- COIL p.Gly414Glu Uncertain significance Single submitter
- COIL p.Gly63Ala Uncertain significance Single submitter
- COIL p.Ile450Thr Uncertain significance Single submitter
- COIL p.Ile477Val Uncertain significance Single submitter
- COIL p.Lys127Thr Uncertain significance Single submitter
- COIL p.Lys160Gln Uncertain significance Single submitter
- COIL p.Lys163Glu Uncertain significance Single submitter
- COIL p.Lys188Glu Uncertain significance Single submitter
- COIL p.Lys190Ile Uncertain significance Single submitter
- COIL p.Lys196Arg Uncertain significance Single submitter
- COIL p.Ser202Cys Uncertain significance Single submitter
- COIL p.Ser245Asn Uncertain significance Single submitter
- COIL p.Ser246Tyr Uncertain significance Single submitter
- COIL p.Ser247Cys Uncertain significance Single submitter
- COIL p.Ser256Pro Uncertain significance Single submitter
- COIL p.Ser285Cys Uncertain significance Single submitter
- COIL p.Ser331Leu Uncertain significance Single submitter
- COIL p.Ser487Gly Uncertain significance Single submitter
- COIL p.Thr20Ile Uncertain significance Single submitter
- COIL p.Thr551Ile Uncertain significance Single submitter
- COIL p.Val442Met Likely benign Single submitter
- COIL p.Val510Ala Uncertain significance Single submitter
All COIL variants
Benign 2
- p.Glu278= Multiple submitters
- p.Val145Ile Multiple submitters
Likely benign 5
- c.1648-5C>T Single submitter
- p.Arg352Cys Single submitter ⚠
- p.Asn139Ser Single submitter
- p.Glu62Asp Single submitter
- p.Val442Met Single submitter ⚠
Uncertain significance 87
- p.Ala362Ser Single submitter ⚠
- p.Ala69Thr Single submitter ⚠
- p.Arg112Trp Single submitter ⚠
- p.Arg352His Single submitter ⚠
- p.Arg352Leu Single submitter ⚠
- p.Arg369Cys Single submitter ⚠
- p.Arg410Gln Single submitter ⚠
- p.Arg417Gly Single submitter ⚠
- p.Arg46Leu Single submitter ⚠
- p.Asn140Ser Single submitter ⚠
- p.Asn141Lys Single submitter ⚠
- p.Asn162Asp Single submitter ⚠
- p.Asn213Ser Single submitter ⚠
- p.Asn78Asp Single submitter ⚠
- p.Asp101Gly Single submitter ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp147Tyr Single submitter ⚠
- p.Asp325Asn Single submitter ⚠
- p.Asp460His Single submitter ⚠
- p.Asp79Tyr Single submitter ⚠
- p.Gln360Glu Single submitter ⚠
- p.Glu267Val Single submitter ⚠
- p.Glu497Gln Single submitter ⚠
- p.Gly221Ser Single submitter ⚠
- p.Gly221Val Single submitter ⚠
- p.Gly234Val Single submitter ⚠
- p.Gly299Asp Single submitter ⚠
- p.Gly363Asp Single submitter ⚠
- p.Gly396Asp Single submitter ⚠
- p.Gly414Glu Single submitter ⚠
- p.Gly63Ala Single submitter ⚠
- p.Gly63Arg Single submitter ⚠
- p.Gly63Trp Single submitter ⚠
- p.Ile257Val Single submitter ⚠
- p.Ile296Val Single submitter ⚠
- p.Ile449Val Single submitter ⚠
- p.Ile450Phe Single submitter ⚠
- p.Ile450Thr Single submitter ⚠
- p.Ile477Val Single submitter ⚠
- p.Lys127Thr Single submitter ⚠
- p.Lys160Gln Single submitter ⚠
- p.Lys163Glu Single submitter ⚠
- p.Lys181Arg Single submitter ⚠
- p.Lys188Glu Single submitter ⚠
- p.Lys190Ile Single submitter ⚠
- p.Lys196Arg Single submitter ⚠
- p.Lys274Ile Single submitter ⚠
- p.Lys287Arg Single submitter ⚠
- p.Lys306Arg Single submitter ⚠
- p.Phe340Tyr Single submitter ⚠
- p.Phe347Ser Single submitter ⚠
- p.Phe402Ser Single submitter ⚠
- p.Phe553Leu Single submitter ⚠
- p.Phe56Cys Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Pro219Ala Single submitter ⚠
- p.Pro219Ser Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro471Thr Single submitter ⚠
- p.Ser202Cys Single submitter ⚠
- p.Ser235Arg Single submitter ⚠
- p.Ser245Asn Single submitter ⚠
- p.Ser246Tyr Single submitter ⚠
- p.Ser247Cys Single submitter ⚠
- p.Ser256Pro Single submitter ⚠
- p.Ser285Cys Single submitter ⚠
- p.Ser331Leu Single submitter ⚠
- p.Ser386Pro Single submitter ⚠
- p.Ser403Ala Single submitter ⚠
- p.Ser446Pro Single submitter ⚠
- p.Ser487Gly Single submitter ⚠
- p.Ser493Cys Single submitter ⚠
- p.Ser568Gly Single submitter ⚠
- p.Ser572Asn Single submitter ⚠
- p.Thr122Pro Single submitter ⚠
- p.Thr20Ile Single submitter ⚠
- p.Thr361Ala Single submitter ⚠
- p.Thr448Ala Single submitter ⚠
- p.Thr551Ile Single submitter ⚠
- p.Trp211Cys Single submitter ⚠
- p.Trp395Arg Single submitter ⚠
- p.Tyr461Ser Single submitter ⚠
- p.Val344Ile Single submitter ⚠
- p.Val510Ala Single submitter ⚠
- p.Val90Ile Single submitter ⚠
- p.Val90Leu Single submitter ⚠
- p.Val96Ala Single submitter ⚠