COLEC10 — 60 ClinVar variants
All ClinVar germline COLEC10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 3 Benign · 9 Likely benign · 43 Uncertain significance
Full COLEC10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COLEC10 p.Ala184Pro Uncertain significance Single submitter
- COLEC10 p.Ala5Glu Uncertain significance Single submitter
- COLEC10 p.Arg137Gln Uncertain significance Single submitter
- COLEC10 p.Arg33Cys Uncertain significance Single submitter
- COLEC10 p.Arg33His Uncertain significance Single submitter
- COLEC10 p.Arg69Cys Uncertain significance Single submitter
- COLEC10 p.Arg69Pro Uncertain significance Single submitter
- COLEC10 p.Asp57His Uncertain significance Single submitter
- COLEC10 p.Cys262Gly Uncertain significance Single submitter
- COLEC10 p.Glu156Lys Uncertain significance Single submitter
- COLEC10 p.Glu166Gly Uncertain significance Single submitter
- COLEC10 p.Glu171Gln Uncertain significance Single submitter
- COLEC10 p.Glu246Ala Uncertain significance Single submitter
- COLEC10 p.Glu37Ala Uncertain significance Single submitter
- COLEC10 p.Gly104Ala Uncertain significance Single submitter
-
COLEC10 p.Gly104Ser
Uncertain significance
Single submitter
3MC syndrome 3
- COLEC10 p.Gly244Asp Uncertain significance Single submitter
- COLEC10 p.Gly89Cys Uncertain significance Single submitter
- COLEC10 p.Ile108Met Uncertain significance Single submitter
- COLEC10 p.Ile23Val Uncertain significance Single submitter
- COLEC10 p.Ile273Phe Uncertain significance Single submitter
- COLEC10 p.Leu21Trp Uncertain significance Single submitter
- COLEC10 p.Leu8Phe Uncertain significance Single submitter
- COLEC10 p.Lys103Arg Uncertain significance Single submitter
- COLEC10 p.Lys139Glu Uncertain significance Single submitter
- COLEC10 p.Lys96Glu Uncertain significance Single submitter
- COLEC10 p.Pro109Arg Uncertain significance Single submitter
- COLEC10 p.Pro186Ser Uncertain significance Single submitter
- COLEC10 p.Pro239His Uncertain significance Single submitter
- COLEC10 p.Pro72Leu Uncertain significance Single submitter
- COLEC10 p.Pro93Ser Uncertain significance Single submitter
- COLEC10 p.Ser240Arg Uncertain significance Single submitter
- COLEC10 p.Ser25Gly Uncertain significance Single submitter
- COLEC10 p.Ser6Tyr Uncertain significance Single submitter
- COLEC10 p.Thr41Ala Uncertain significance Single submitter
- COLEC10 p.Val67Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- COLEC10 p.Arg137Trp Uncertain significance Single submitter
- COLEC10 p.Cys119Ser Uncertain significance Single submitter
- COLEC10 p.Met185Thr Uncertain significance Single submitter
- COLEC10 p.Phe205Leu Uncertain significance Single submitter
- COLEC10 p.Phe268Leu Uncertain significance Single submitter
- COLEC10 p.Tyr124Cys Uncertain significance Single submitter
All COLEC10 variants
Pathogenic 3
- p.Arg9Ter Multiple submitters Primary immunodeficiency or monogenic inflammatory bowel disease
- p.Cys176Trp No assertion criteria 3MC syndrome 3
- p.Gly77fs No assertion criteria 3MC syndrome 3
Likely pathogenic 2
- c.442+1G>A Single submitter
- p.Gly104Val Single submitter 3MC syndrome 3
Benign 3
- c.346+5G>A Multiple submitters
- p.Pro72= Multiple submitters
- p.Gln130= No assertion criteria COLEC10-related disorder
Likely benign 9
- c.346+4C>T Single submitter
- p.Ala36Thr Single submitter
- p.Arg179Trp Single submitter
- p.Glu78Asp Single submitter
- p.His175= Single submitter
- p.Ser253= Single submitter
- p.Thr140= Single submitter
- p.Tyr124= Single submitter
- p.Val17Leu Single submitter
Uncertain significance 43
- c.149-7945A>C Single submitter
- p.Ala184Pro Single submitter ⚠
- p.Ala5Glu Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg33Cys Single submitter ⚠
- p.Arg33His Single submitter ⚠
- p.Arg69Cys Single submitter ⚠
- p.Arg69Pro Single submitter ⚠
- p.Asp57His Single submitter ⚠
- p.Cys119Ser Single submitter ⚠
- p.Cys262Gly Single submitter ⚠
- p.Glu156Lys Single submitter ⚠
- p.Glu166Gly Single submitter ⚠
- p.Glu171Gln Single submitter ⚠
- p.Glu246Ala Single submitter ⚠
- p.Glu37Ala Single submitter ⚠
- p.Gly104Ala Single submitter ⚠
- p.Gly104Ser Single submitter 3MC syndrome 3 ⚠
- p.Gly244Asp Single submitter ⚠
- p.Gly89Cys Single submitter ⚠
- p.Ile108Met Single submitter ⚠
- p.Ile23Val Single submitter ⚠
- p.Ile273Phe Single submitter ⚠
- p.Leu21Trp Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Lys103Arg Single submitter ⚠
- p.Lys139Glu Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Met185Thr Single submitter ⚠
- p.Phe205Leu Single submitter ⚠
- p.Phe268Leu Single submitter ⚠
- p.Pro109Arg Single submitter ⚠
- p.Pro186Ser Single submitter ⚠
- p.Pro239His Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Pro93Ser Single submitter ⚠
- p.Ser240Arg Single submitter ⚠
- p.Ser25Gly Single submitter ⚠
- p.Ser6Tyr Single submitter ⚠
- p.Thr41Ala Single submitter ⚠
- p.Tyr124Cys Single submitter ⚠
- p.Val67Met Single submitter ⚠