C2CD4B — 105 ClinVar variants
All ClinVar germline C2CD4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
7 Likely benign · 98 Uncertain significance
Full C2CD4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C2CD4B p.Ala190Gly Uncertain significance Single submitter
- C2CD4B p.Ala197Val Uncertain significance Single submitter
- C2CD4B p.Ala20Asp Uncertain significance Single submitter
- C2CD4B p.Ala231Pro Uncertain significance Single submitter
- C2CD4B p.Ala244Thr Uncertain significance Single submitter
- C2CD4B p.Ala313Gly Uncertain significance Single submitter
- C2CD4B p.Ala338Val Uncertain significance Single submitter
- C2CD4B p.Arg111Cys Uncertain significance Single submitter
- C2CD4B p.Arg175Ser Uncertain significance Single submitter
- C2CD4B p.Arg195Pro Uncertain significance Single submitter
- C2CD4B p.Arg200Leu Uncertain significance Single submitter
- C2CD4B p.Arg309Pro Uncertain significance Single submitter
- C2CD4B p.Arg38Leu Uncertain significance Single submitter
- C2CD4B p.Asn206Ser Uncertain significance Single submitter
- C2CD4B p.Asp137Gly Uncertain significance Single submitter
- C2CD4B p.Asp165Ala Uncertain significance Single submitter
- C2CD4B p.Asp316His Uncertain significance Single submitter
- C2CD4B p.Cys320Trp Uncertain significance Single submitter
- C2CD4B p.Gln164Pro Uncertain significance Single submitter
- C2CD4B p.Gln302Lys Uncertain significance Single submitter
- C2CD4B p.Glu105Gln Uncertain significance Single submitter
- C2CD4B p.Glu238Gln Uncertain significance Single submitter
- C2CD4B p.Gly118Arg Uncertain significance Single submitter
- C2CD4B p.Gly118Glu Uncertain significance Single submitter
- C2CD4B p.Gly145Cys Uncertain significance Single submitter
- C2CD4B p.Gly170Val Uncertain significance Single submitter
- C2CD4B p.Gly182Glu Uncertain significance Single submitter
- C2CD4B p.His128Arg Uncertain significance Single submitter
- C2CD4B p.His128Gln Uncertain significance Single submitter
- C2CD4B p.Leu196Pro Uncertain significance Single submitter
- C2CD4B p.Leu86Pro Uncertain significance Single submitter
- C2CD4B p.Lys23Glu Uncertain significance Single submitter
- C2CD4B p.Lys240Asn Uncertain significance Single submitter
- C2CD4B p.Phe21Tyr Uncertain significance Single submitter
- C2CD4B p.Pro139Leu Uncertain significance Single submitter
- C2CD4B p.Pro151Ser Uncertain significance Single submitter
- C2CD4B p.Pro19Ser Uncertain significance Single submitter
- C2CD4B p.Pro226Arg Uncertain significance Single submitter
- C2CD4B p.Pro232Arg Uncertain significance Single submitter
- C2CD4B p.Pro280Ala Uncertain significance Single submitter
- C2CD4B p.Pro280Leu Uncertain significance Single submitter
- C2CD4B p.Pro282Ser Uncertain significance Single submitter
- C2CD4B p.Pro31Ser Uncertain significance Single submitter
- C2CD4B p.Pro55Ser Uncertain significance Single submitter
- C2CD4B p.Pro66Arg Uncertain significance Single submitter
- C2CD4B p.Pro89Gln Uncertain significance Single submitter
- C2CD4B p.Ser204Gly Uncertain significance Single submitter
- C2CD4B p.Ser304Gly Uncertain significance Single submitter
- C2CD4B p.Thr142Ala Uncertain significance Single submitter
- C2CD4B p.Thr142Pro Uncertain significance Single submitter
- C2CD4B p.Trp301Cys Uncertain significance Single submitter
- C2CD4B p.Trp65Arg Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
- C2CD4B p.Ala138Thr Uncertain significance Single submitter
- C2CD4B p.Ala239Val Uncertain significance Single submitter
- C2CD4B p.Ala244Val Uncertain significance Single submitter
- C2CD4B p.Ala279Asp Uncertain significance Single submitter
- C2CD4B p.Arg172Cys Uncertain significance Single submitter
- C2CD4B p.Arg189Gln Uncertain significance Single submitter
- C2CD4B p.Arg198Cys Uncertain significance Single submitter
- C2CD4B p.Arg211His Uncertain significance Single submitter
- C2CD4B p.Arg220Trp Uncertain significance Single submitter
- C2CD4B p.Arg253His Uncertain significance Single submitter
- C2CD4B p.Arg271Pro Uncertain significance Single submitter
- C2CD4B p.Arg311Cys Uncertain significance Single submitter
- C2CD4B p.Arg349Leu Uncertain significance Single submitter
- C2CD4B p.Asp318Asn Uncertain significance Single submitter
- C2CD4B p.Asp327Asn Uncertain significance Single submitter
- C2CD4B p.Asp340His Uncertain significance Single submitter
- C2CD4B p.Asp340Val Uncertain significance Single submitter
- C2CD4B p.Cys144Tyr Uncertain significance Single submitter
- C2CD4B p.Glu105Gly Uncertain significance Single submitter
- C2CD4B p.Glu328Lys Uncertain significance Single submitter
- C2CD4B p.Glu32Val Uncertain significance Single submitter
- C2CD4B p.Glu71Lys Uncertain significance Single submitter
- C2CD4B p.Gly241Asp Uncertain significance Single submitter
- C2CD4B p.Gly249Ser Uncertain significance Single submitter
- C2CD4B p.His90Gln Uncertain significance Single submitter
- C2CD4B p.Leu25Phe Uncertain significance Single submitter
- C2CD4B p.Leu324Phe Uncertain significance Single submitter
- C2CD4B p.Leu45Ile Uncertain significance Single submitter
- C2CD4B p.Phe21Leu Uncertain significance Single submitter
- C2CD4B p.Pro121Ser Uncertain significance Single submitter
- C2CD4B p.Pro123Leu Uncertain significance Single submitter
- C2CD4B p.Pro123Ser Uncertain significance Single submitter
- C2CD4B p.Pro125Ser Uncertain significance Single submitter
- C2CD4B p.Pro154Thr Uncertain significance Single submitter
- C2CD4B p.Pro218Gln Uncertain significance Single submitter
- C2CD4B p.Pro282Thr Uncertain significance Single submitter
- C2CD4B p.Pro89Arg Uncertain significance Single submitter
- C2CD4B p.Ser325Trp Uncertain significance Single submitter
- C2CD4B p.Thr26Met Uncertain significance Single submitter
- C2CD4B p.Trp65Cys Uncertain significance Single submitter
- C2CD4B p.Val179Ile Uncertain significance Single submitter
- C2CD4B p.Val243Met Uncertain significance Single submitter
- C2CD4B p.Val24Gly Uncertain significance Single submitter
- C2CD4B p.Val307Met Uncertain significance Single submitter
- C2CD4B p.Val334Phe Uncertain significance Single submitter
- C2CD4B p.Val54Met Uncertain significance Single submitter
All C2CD4B variants
Likely benign 7
- p.Ala22Ser Single submitter
- p.Arg173Gly Single submitter
- p.Arg50Pro Single submitter
- p.Gly170Arg Single submitter
- p.Gly308Arg Single submitter
- p.Leu162Pro Single submitter
- p.Lys240Glu Single submitter
Uncertain significance 98
- p.Ala138Thr Single submitter ⚠
- p.Ala190Gly Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala20Asp Single submitter ⚠
- p.Ala231Pro Single submitter ⚠
- p.Ala239Val Single submitter ⚠
- p.Ala244Thr Single submitter ⚠
- p.Ala244Val Single submitter ⚠
- p.Ala279Asp Single submitter ⚠
- p.Ala313Gly Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Arg111Cys Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg175Ser Single submitter ⚠
- p.Arg189Gln Single submitter ⚠
- p.Arg195Pro Single submitter ⚠
- p.Arg198Cys Single submitter ⚠
- p.Arg200Leu Single submitter ⚠
- p.Arg211His Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg271Pro Single submitter ⚠
- p.Arg309Pro Single submitter ⚠
- p.Arg311Cys Single submitter ⚠
- p.Arg349Leu Single submitter ⚠
- p.Arg38Leu Single submitter ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asp137Gly Single submitter ⚠
- p.Asp165Ala Single submitter ⚠
- p.Asp316His Single submitter ⚠
- p.Asp318Asn Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp340His Single submitter ⚠
- p.Asp340Val Single submitter ⚠
- p.Cys144Tyr Single submitter ⚠
- p.Cys320Trp Single submitter ⚠
- p.Gln164Pro Single submitter ⚠
- p.Gln302Lys Single submitter ⚠
- p.Glu105Gln Single submitter ⚠
- p.Glu105Gly Single submitter ⚠
- p.Glu238Gln Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Glu32Val Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Gly118Arg Single submitter ⚠
- p.Gly118Glu Single submitter ⚠
- p.Gly145Cys Single submitter ⚠
- p.Gly170Val Single submitter ⚠
- p.Gly182Glu Single submitter ⚠
- p.Gly241Asp Single submitter ⚠
- p.Gly249Ser Single submitter ⚠
- p.His128Arg Single submitter ⚠
- p.His128Gln Single submitter ⚠
- p.His90Gln Single submitter ⚠
- p.Leu196Pro Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu324Phe Single submitter ⚠
- p.Leu45Ile Single submitter ⚠
- p.Leu86Pro Single submitter ⚠
- p.Lys23Glu Single submitter ⚠
- p.Lys240Asn Single submitter ⚠
- p.Phe21Leu Single submitter ⚠
- p.Phe21Tyr Single submitter ⚠
- p.Pro121Ser Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Pro123Ser Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro139Leu Single submitter ⚠
- p.Pro151Ser Single submitter ⚠
- p.Pro154Thr Single submitter ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro218Gln Single submitter ⚠
- p.Pro226Arg Single submitter ⚠
- p.Pro232Arg Single submitter ⚠
- p.Pro280Ala Single submitter ⚠
- p.Pro280Leu Single submitter ⚠
- p.Pro282Ser Single submitter ⚠
- p.Pro282Thr Single submitter ⚠
- p.Pro31Ser Single submitter ⚠
- p.Pro55Ser Single submitter ⚠
- p.Pro66Arg Single submitter ⚠
- p.Pro89Arg Single submitter ⚠
- p.Pro89Gln Single submitter ⚠
- p.Ser204Gly Single submitter ⚠
- p.Ser304Gly Single submitter ⚠
- p.Ser325Trp Single submitter ⚠
- p.Thr142Ala Single submitter ⚠
- p.Thr142Pro Single submitter ⚠
- p.Thr26Met Single submitter ⚠
- p.Trp301Cys Single submitter ⚠
- p.Trp65Arg Single submitter ⚠
- p.Trp65Cys Single submitter ⚠
- p.Val179Ile Single submitter ⚠
- p.Val243Met Single submitter ⚠
- p.Val24Gly Single submitter ⚠
- p.Val307Met Single submitter ⚠
- p.Val334Phe Single submitter ⚠
- p.Val54Met Single submitter ⚠