COLEC11 — 150 ClinVar variants
All ClinVar germline COLEC11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
5 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 7 Benign · 7 Benign/Likely benign · 69 Likely benign · 59 Uncertain significance
Full COLEC11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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.
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COLEC11 p.Ala194Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLEC11 p.Leu208Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLEC11 p.Pro102Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLEC11 p.Thr176Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLEC11 p.Ala166Thr
Uncertain significance
Single submitter
3MC syndrome 2
- COLEC11 p.Ala213Thr Uncertain significance Single submitter
-
COLEC11 p.Ala32Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- COLEC11 p.Ala46Val Uncertain significance Single submitter
-
COLEC11 p.Arg147His
Uncertain significance
Single submitter
3MC syndrome 2
-
COLEC11 p.Arg200His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Arg229His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Asn4His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Asn4Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Asp30Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Asp51Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Cys170Arg
Uncertain significance
Single submitter
3MC syndrome 2
-
COLEC11 p.Cys242Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gln171His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gln75Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gly110Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gly145Ser
Uncertain significance
Single submitter
3MC syndrome 2
-
COLEC11 p.Gly250Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gly3Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gly80Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gly95Val
Uncertain significance
Single submitter
3MC syndrome 2
-
COLEC11 p.Gly9Val
Uncertain significance
Single submitter
Inborn genetic diseases
- COLEC11 p.Ile139Leu Uncertain significance Single submitter
-
COLEC11 p.Ile139Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Met245Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Pro103Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Pro103Ser
Uncertain significance
Single submitter
3MC syndrome 2
-
COLEC11 p.Pro109Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Ser220Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Val10Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Val10Phe
Uncertain significance
Single submitter
3MC syndrome 2
- COLEC11 p.Val215Leu Uncertain significance Single submitter
- COLEC11 p.Val39Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
-
COLEC11 p.Gly145Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
COLEC11 p.Arg119His
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Arg162Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- COLEC11 p.Arg57Trp Likely benign Single submitter
- COLEC11 p.Asn186Ser Uncertain significance Single submitter
-
COLEC11 p.Asn234Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Gly123Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- COLEC11 p.Gly123Glu Uncertain significance Single submitter
-
COLEC11 p.Gly231Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Lys91Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Pro58Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- COLEC11 p.Pro58Arg Uncertain significance Single submitter
-
COLEC11 p.Ser130Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
COLEC11 p.Ser169Pro
Pathogenic
No assertion criteria
3MC syndrome 2
All COLEC11 variants
Pathogenic 5
- p.Ala28fs Single submitter 3MC syndrome
- p.Gly204Ser Single submitter 3MC syndrome 2
- p.Phe16fs No assertion criteria 3MC syndrome 2
- p.Ser169Pro No assertion criteria 3MC syndrome 2 ⚠
- p.Ser217del No assertion criteria 3MC syndrome 2
Likely pathogenic 1
- p.Gly68fs Single submitter COLEC11-related disorder
Conflicting classifications of pathogenicity 2
Benign 7
- c.202+19C>T Multiple submitters
- p.Ala144= Multiple submitters
- p.Arg81= Multiple submitters
- p.Ile122= Multiple submitters
- p.Ile85= Multiple submitters
- p.Lys120= Multiple submitters
- c.425-9A>G Single submitter
Benign/Likely benign 7
- c.130+1784T>C Multiple submitters
- c.203-11475G>A Multiple submitters
- c.424+16C>T Multiple submitters
- p.His219Arg Multiple submitters
- p.Ser97= Multiple submitters
- p.Thr259= Multiple submitters
- p.Val8Ala Multiple submitters
Likely benign 69
- c.130+1738C>G Multiple submitters
- c.130+1748C>T Multiple submitters
- c.329-6_329-5dup Multiple submitters
- p.Ala196= Multiple submitters
- p.Arg81His Multiple submitters Inborn genetic diseases
- p.Cys115= Multiple submitters
- p.Gly172Ser Multiple submitters
- p.Gly212= Multiple submitters
- p.Pro55= Multiple submitters Inborn genetic diseases
- p.Ser248= Multiple submitters
- p.Val143= Multiple submitters
- c.130+15G>A Single submitter
- c.130+1733G>A Single submitter
- c.130+1753G>C Single submitter
- c.130+1755C>T Single submitter
- c.130+1782C>A Single submitter
- c.130+1783C>T Single submitter
- c.130+1787A>C Single submitter
- c.202+10G>A Single submitter
- c.202+13C>A Single submitter
- c.203-11505C>T Single submitter
- c.203-11G>A Single submitter
- c.203-11G>C Single submitter
- c.203-13T>C Single submitter
- c.328+5G>A Single submitter
- c.329-19G>A Single submitter
- c.329-20C>T Single submitter
- c.329-4G>T Single submitter
- c.424+13C>T Single submitter
- c.424+20G>A Single submitter
- c.425-16C>T Single submitter
- c.-26-637C>T Single submitter
- c.-26-639G>A Single submitter
- c.-26-645G>A Single submitter
- c.-26-670G>A Single submitter
- c.-26-670G>T Single submitter
- c.-26-679G>A Single submitter
- c.-26-684G>T Single submitter
- p.Ala164= Single submitter
- p.Ala164Val Single submitter Inborn genetic diseases
- p.Ala190= Single submitter
- p.Ala236= Single submitter
- p.Ala54= Single submitter
- p.Arg57Trp Single submitter ⚠
- p.Asn141= Single submitter
- p.Asn252= Single submitter
- p.Asp126= Single submitter
- p.Asp165= Single submitter
- p.Asp45= Single submitter Inborn genetic diseases
- p.Glu239= Single submitter
- p.Ile205= Single submitter
- p.Ile37= Single submitter Inborn genetic diseases
- p.Leu111= Single submitter
- p.Ser217= Single submitter
- p.Ser230= Single submitter
- p.Thr64Met Single submitter
- p.Tyr154= Single submitter
- p.Tyr237= Single submitter
- c.130+1716T>C No assertion criteria COLEC11-related disorder
- c.130+6C>T No assertion criteria COLEC11-related disorder
- c.203-11487C>T No assertion criteria COLEC11-related disorder
- c.329-6C>T No assertion criteria COLEC11-related disorder
- c.-26-5T>C No assertion criteria COLEC11-related disorder
- c.-26-646C>T No assertion criteria COLEC11-related disorder
- p.Cys242= No assertion criteria COLEC11-related disorder
- p.Phe214= No assertion criteria COLEC11-related disorder
- p.Pro105= No assertion criteria COLEC11-related disorder
- p.Thr176= No assertion criteria COLEC11-related disorder
- p.Tyr192= No assertion criteria COLEC11-related disorder
Uncertain significance 59
- p.Ala194Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly145Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu208Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro102Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr176Met Multiple submitters Inborn genetic diseases ⚠
- c.131-18A>G Single submitter
- c.131-3C>T Single submitter
- c.425-3C>T Single submitter
- c.-26-701G>C Single submitter
- p.Ala166Thr Single submitter 3MC syndrome 2 ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala32Thr Single submitter Inborn genetic diseases ⚠
- p.Ala46Val Single submitter ⚠
- p.Arg119His Single submitter Inborn genetic diseases ⚠
- p.Arg147His Single submitter 3MC syndrome 2 ⚠
- p.Arg162Cys Single submitter Inborn genetic diseases ⚠
- p.Arg200His Single submitter Inborn genetic diseases ⚠
- p.Arg229His Single submitter Inborn genetic diseases ⚠
- p.Asn186Ser Single submitter ⚠
- p.Asn234Ser Single submitter Inborn genetic diseases ⚠
- p.Asn4His Single submitter Inborn genetic diseases ⚠
- p.Asn4Ser Single submitter Inborn genetic diseases ⚠
- p.Asp218Ter Single submitter
- p.Asp30Asn Single submitter Inborn genetic diseases ⚠
- p.Asp51Glu Single submitter Inborn genetic diseases ⚠
- p.Cys170Arg Single submitter 3MC syndrome 2 ⚠
- p.Cys242Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln171His Single submitter Inborn genetic diseases ⚠
- p.Gln75Arg Single submitter Inborn genetic diseases ⚠
- p.Gly104fs Single submitter 3MC syndrome 2
- p.Gly110Cys Single submitter Inborn genetic diseases ⚠
- p.Gly123Arg Single submitter Inborn genetic diseases ⚠
- p.Gly123Glu Single submitter ⚠
- p.Gly145Ser Single submitter 3MC syndrome 2 ⚠
- p.Gly231Ser Single submitter Inborn genetic diseases ⚠
- p.Gly250Ser Single submitter Inborn genetic diseases ⚠
- p.Gly3Glu Single submitter Inborn genetic diseases ⚠
- p.Gly80Ala Single submitter Inborn genetic diseases ⚠
- p.Gly95Val Single submitter 3MC syndrome 2 ⚠
- p.Gly9Val Single submitter Inborn genetic diseases ⚠
- p.Ile139Leu Single submitter ⚠
- p.Ile139Val Single submitter Inborn genetic diseases ⚠
- p.Lys91Glu Single submitter Inborn genetic diseases ⚠
- p.Met222Thr Single submitter Inborn genetic diseases
- p.Met245Thr Single submitter Inborn genetic diseases ⚠
- p.Phe138Tyr Single submitter Inborn genetic diseases
- p.Pro103Ala Single submitter Inborn genetic diseases ⚠
- p.Pro103Ser Single submitter 3MC syndrome 2 ⚠
- p.Pro109Ser Single submitter Inborn genetic diseases ⚠
- p.Pro58Ala Single submitter Inborn genetic diseases ⚠
- p.Pro58Arg Single submitter ⚠
- p.Ser130Cys Single submitter Inborn genetic diseases ⚠
- p.Ser220Thr Single submitter Inborn genetic diseases ⚠
- p.Val10Ile Single submitter Inborn genetic diseases ⚠
- p.Val10Phe Single submitter 3MC syndrome 2 ⚠
- p.Val215Leu Single submitter ⚠
- p.Val39Ile Single submitter ⚠
- c.130+1740A>T No assertion criteria COLEC11-related disorder
- p.Leu38= No assertion criteria COLEC11-related disorder