COLEC12 — 100 ClinVar variants

All ClinVar germline COLEC12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

5 Benign · 7 Likely benign · 88 Uncertain significance

Full COLEC12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 71

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

Predictors split 13

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

All COLEC12 variants

Benign 5

p.Ile52Val Multiple submitters
c.280+3_280+4dup Single submitter
p.Pro585= Single submitter
p.Pro600= Single submitter
p.Ser522= Single submitter

Likely benign 7

p.Arg673His Single submitter
p.Asn291Ser Single submitter
p.Asn307= Single submitter
p.Asn32Asp Single submitter
p.Leu317Val Single submitter
p.Thr341= Single submitter
p.Val725Ile Single submitter

Uncertain significance 88

p.Ala173Val Single submitter ⚠
p.Ala233Ser Single submitter ⚠
p.Ala274Val Single submitter ⚠
p.Ala481Val Single submitter ⚠
p.Ala588Val Single submitter ⚠
p.Ala85Thr Single submitter ⚠
p.Arg119Cys Single submitter ⚠
p.Arg123Cys Single submitter ⚠
p.Arg18Gln Single submitter ⚠
p.Arg225Gln Single submitter ⚠
p.Arg236Gln Single submitter ⚠
p.Arg358Gln Single submitter ⚠
p.Arg358Pro Single submitter ⚠
p.Arg393His Single submitter ⚠
p.Arg496Cys Single submitter ⚠
p.Asn175Ser Single submitter ⚠
p.Asn208Lys Single submitter ⚠
p.Asn218Lys Single submitter ⚠
p.Asn363Tyr Single submitter ⚠
p.Asn386Ser Single submitter ⚠
p.Asp144Glu Single submitter ⚠
p.Asp256Gly Single submitter ⚠
p.Asp281Tyr Single submitter ⚠
p.Asp320Val Single submitter ⚠
p.Cys27Phe Single submitter ⚠
p.Gln315Lys Single submitter ⚠
p.Gln651Glu Single submitter ⚠
p.Gln657fs Single submitter
p.Glu107Lys Single submitter ⚠
p.Glu127Gly Single submitter ⚠
p.Glu284Ala Single submitter ⚠
p.Glu322Asp Single submitter ⚠
p.Glu474Lys Single submitter ⚠
p.Glu495Gln Single submitter ⚠
p.Glu63Gln Single submitter ⚠
p.Glu63Gly Single submitter ⚠
p.Glu731Lys Single submitter
p.Gly143Arg Single submitter
p.Gly15Ser Single submitter ⚠
p.Gly539Ser Single submitter ⚠
p.Gly563Glu Single submitter ⚠
p.Gly715Arg Single submitter ⚠
p.His199Tyr Single submitter ⚠
p.His700Tyr Single submitter ⚠
p.His702Arg Single submitter ⚠
p.Ile237Thr Single submitter ⚠
p.Ile303Thr Single submitter ⚠
p.Ile327Val Single submitter ⚠
p.Ile346Asn Single submitter ⚠
p.Ile40Val Single submitter ⚠
p.Ile440Val Single submitter ⚠
p.Ile654Leu Single submitter ⚠
p.Ile729Val Single submitter ⚠
p.Leu564Pro Single submitter ⚠
p.Lys100Glu Single submitter ⚠
p.Lys133Glu Single submitter ⚠
p.Lys472Glu Single submitter ⚠
p.Lys638Met Single submitter ⚠
p.Lys91Glu Single submitter ⚠
p.Phe241Ser Single submitter ⚠
p.Pro447Leu Single submitter ⚠
p.Pro459His Single submitter ⚠
p.Pro489Ser Single submitter ⚠
p.Pro519Ala Single submitter ⚠
p.Pro529Arg Single submitter ⚠
p.Pro529Leu Single submitter ⚠
p.Pro531Gln Single submitter ⚠
p.Pro580Leu Single submitter ⚠
p.Pro600Leu Single submitter ⚠
p.Pro608Leu Single submitter ⚠
p.Ser130Thr Single submitter ⚠
p.Ser142Arg Single submitter ⚠
p.Ser186Gly Single submitter ⚠
p.Ser351Thr Single submitter ⚠
p.Ser501Pro Single submitter ⚠
p.Thr110Ile Single submitter ⚠
p.Thr135Arg Single submitter ⚠
p.Thr165Ser Single submitter ⚠
p.Thr166Asn Single submitter ⚠
p.Thr179Lys Single submitter ⚠
p.Thr221Met Single submitter ⚠
p.Thr267Met Single submitter ⚠
p.Thr463Ala Single submitter ⚠
p.Tyr197His Single submitter ⚠
p.Tyr352Cys Single submitter
p.Tyr79Cys Single submitter ⚠
p.Val61Ala Single submitter ⚠
p.Val62Ile Single submitter ⚠