CC2D2B — 51 ClinVar variants
All ClinVar germline CC2D2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
4 Likely benign · 47 Uncertain significance
Full CC2D2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CC2D2B p.Arg1345Pro Uncertain significance Single submitter
- CC2D2B p.Asn1422Ser Uncertain significance Single submitter
- CC2D2B p.Asp1312Glu Uncertain significance Single submitter
- CC2D2B p.Cys1234Arg Uncertain significance Single submitter
- CC2D2B p.Cys985Tyr Uncertain significance Single submitter
- CC2D2B p.Gln1128Glu Uncertain significance Single submitter
- CC2D2B p.Gln1233Lys Uncertain significance Single submitter
- CC2D2B p.Gln1339Arg Uncertain significance Single submitter
- CC2D2B p.Gln1397Arg Uncertain significance Single submitter
- CC2D2B p.Gly1164Ala Uncertain significance Single submitter
- CC2D2B p.Gly991Val Uncertain significance Single submitter
- CC2D2B p.Ile1121Val Uncertain significance Single submitter
- CC2D2B p.Ile1175Val Uncertain significance Single submitter
- CC2D2B p.Ile1179Thr Uncertain significance Single submitter
- CC2D2B p.Ile1301Thr Uncertain significance Single submitter
- CC2D2B p.Leu1201Pro Uncertain significance Single submitter
- CC2D2B p.Leu1282Phe Uncertain significance Single submitter
- CC2D2B p.Met1309Leu Uncertain significance Single submitter
- CC2D2B p.Phe1238Ser Uncertain significance Single submitter
- CC2D2B p.Phe1270Leu Uncertain significance Single submitter
- CC2D2B p.Phe1271Leu Uncertain significance Single submitter
- CC2D2B p.Phe1358Cys Uncertain significance Single submitter
- CC2D2B p.Phe1358Leu Uncertain significance Single submitter
- CC2D2B p.Pro1229Arg Uncertain significance Single submitter
- CC2D2B p.Pro1240Leu Uncertain significance Single submitter
- CC2D2B p.Thr1158Lys Uncertain significance Single submitter
- CC2D2B p.Thr1377Met Uncertain significance Single submitter
- CC2D2B p.Tyr1302Asp Uncertain significance Single submitter
- CC2D2B p.Tyr1419His Uncertain significance Single submitter
- CC2D2B p.Tyr994His Uncertain significance Single submitter
- CC2D2B p.Val1202Ala Uncertain significance Single submitter
- CC2D2B p.Val1247Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CC2D2B p.Arg1101Gln Uncertain significance Single submitter
- CC2D2B p.Arg1329Gln Uncertain significance Single submitter
- CC2D2B p.Asp1248Asn Uncertain significance Single submitter
- CC2D2B p.Ile1145Phe Uncertain significance Single submitter
- CC2D2B p.Ile1260Ser Uncertain significance Single submitter
- CC2D2B p.Ile1370Lys Uncertain significance Single submitter
- CC2D2B p.Phe1405Leu Uncertain significance Single submitter
- CC2D2B p.Pro1266Thr Uncertain significance Single submitter
- CC2D2B p.Ser1014Pro Uncertain significance Single submitter
- CC2D2B p.Ser1246Cys Uncertain significance Single submitter
- CC2D2B p.Thr1206Met Uncertain significance Single submitter
- CC2D2B p.Tyr1429Cys Uncertain significance Single submitter
- CC2D2B p.Val1216Ala Uncertain significance Single submitter
- CC2D2B p.Val1216Ile Uncertain significance Single submitter
- CC2D2B p.Val1426Met Uncertain significance Single submitter
All CC2D2B variants
Likely benign 4
- p.Arg380= Single submitter
- p.Glu137Asp Single submitter
- p.Leu664= Single submitter
- p.Leu89= Single submitter
Uncertain significance 47
- p.Arg1101Gln Single submitter ⚠
- p.Arg1329Gln Single submitter ⚠
- p.Arg1345Pro Single submitter ⚠
- p.Asn1422Ser Single submitter ⚠
- p.Asp1248Asn Single submitter ⚠
- p.Asp1312Glu Single submitter ⚠
- p.Cys1234Arg Single submitter ⚠
- p.Cys985Tyr Single submitter ⚠
- p.Gln1128Glu Single submitter ⚠
- p.Gln1233Lys Single submitter ⚠
- p.Gln1339Arg Single submitter ⚠
- p.Gln1397Arg Single submitter ⚠
- p.Gly1164Ala Single submitter ⚠
- p.Gly991Val Single submitter ⚠
- p.Ile1121Val Single submitter ⚠
- p.Ile1145Phe Single submitter ⚠
- p.Ile1175Val Single submitter ⚠
- p.Ile1179Thr Single submitter ⚠
- p.Ile1260Ser Single submitter ⚠
- p.Ile1301Thr Single submitter ⚠
- p.Ile1370Lys Single submitter ⚠
- p.Leu1201Pro Single submitter ⚠
- p.Leu1282Phe Single submitter ⚠
- p.Met1309Leu Single submitter ⚠
- p.Phe1238Ser Single submitter ⚠
- p.Phe1270Leu Single submitter ⚠
- p.Phe1271Leu Single submitter ⚠
- p.Phe1358Cys Single submitter ⚠
- p.Phe1358Leu Single submitter ⚠
- p.Phe1405Leu Single submitter ⚠
- p.Pro1229Arg Single submitter ⚠
- p.Pro1240Leu Single submitter ⚠
- p.Pro1266Thr Single submitter ⚠
- p.Ser1014Pro Single submitter ⚠
- p.Ser1246Cys Single submitter ⚠
- p.Thr1158Lys Single submitter ⚠
- p.Thr1206Met Single submitter ⚠
- p.Thr1377Met Single submitter ⚠
- p.Tyr1302Asp Single submitter ⚠
- p.Tyr1419His Single submitter ⚠
- p.Tyr1429Cys Single submitter ⚠
- p.Tyr994His Single submitter ⚠
- p.Val1202Ala Single submitter ⚠
- p.Val1216Ala Single submitter ⚠
- p.Val1216Ile Single submitter ⚠
- p.Val1247Ile Single submitter ⚠
- p.Val1426Met Single submitter ⚠