C2CD6 — 140 ClinVar variants

All ClinVar germline C2CD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →

1 Pathogenic · 12 Likely benign · 127 Uncertain significance

Full C2CD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 43

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

C2CD6 p.His113Arg Pathogenic No assertion criteria
spermatogenic failure 68

Predictors lean, ClinVar uncertain 33

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

Predictors split 9

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

All C2CD6 variants

Pathogenic 1

p.His113Arg No assertion criteria spermatogenic failure 68 ⚠

Likely benign 12

p.Ala1189Val Single submitter
p.Ala54Thr Single submitter
p.Arg1479Lys Single submitter
p.Arg465His Single submitter
p.Glu983Lys Single submitter
p.Leu1137= Single submitter
p.Lys66Glu Single submitter
p.Met1014Ile Single submitter
p.Phe825Leu Single submitter
p.Ser12Asn Single submitter
p.Ser1327Gly Single submitter
p.Ser1804Pro Single submitter

Uncertain significance 127

p.Ala1682Thr Single submitter
p.Ala427Gly Single submitter ⚠
p.Ala54Pro Single submitter ⚠
p.Ala54Ser Single submitter ⚠
p.Ala646Ser Single submitter
p.Ala827Asp Single submitter
p.Arg1134Cys Single submitter
p.Arg1134His Single submitter
p.Arg1163Ser Single submitter
p.Arg1288Lys Single submitter
p.Arg135Cys Single submitter ⚠
p.Arg1411Gln Single submitter
p.Arg176Cys Single submitter ⚠
p.Arg176His Single submitter ⚠
p.Arg1779Ter Single submitter spermatogenic failure 68
p.Arg1789His Single submitter ⚠
p.Arg181Gln Single submitter ⚠
p.Arg181Trp Single submitter ⚠
p.Arg197His Single submitter ⚠
p.Arg324Trp Single submitter ⚠
p.Arg74Trp Single submitter ⚠
p.Arg981Thr Single submitter
p.Arg9Ser Single submitter ⚠
p.Asn1013Ile Single submitter
p.Asn1013Ser Single submitter
p.Asn1034Tyr Single submitter
p.Asn1083Ser Single submitter
p.Asn1243Ser Single submitter
p.Asn1251Ser Single submitter
p.Asn266Ser Single submitter ⚠
p.Asn309Ser Single submitter ⚠
p.Asn544Lys Single submitter
p.Asp1280Asn Single submitter
p.Asp1372Asn Single submitter
p.Asp1402Val Single submitter
p.Asp1501Val Single submitter
p.Asp1679Gly Single submitter
p.Asp295Tyr Single submitter ⚠
p.Gln1486His Single submitter
p.Gln1500Glu Single submitter
p.Gln1541Pro Single submitter
p.Gln310Arg Single submitter ⚠
p.Gln31Lys Single submitter ⚠
p.Glu1065Lys Single submitter
p.Glu1112Gln Single submitter
p.Glu1115Gly Single submitter
p.Glu2Gly Single submitter ⚠
p.Glu502Gln Single submitter ⚠
p.Glu762Ala Single submitter
p.Glu818Gly Single submitter
p.Gly1089Glu Single submitter
p.Gly457Asp Single submitter ⚠
p.His119Arg Single submitter ⚠
p.His1482Tyr Single submitter
p.His1705Asn Single submitter
p.His1760Tyr Single submitter ⚠
p.His225Arg Single submitter ⚠
p.Ile1128Val Single submitter
p.Ile1359Val Single submitter
p.Ile1364Met Single submitter
p.Ile1364Val Single submitter
p.Ile864Thr Single submitter
p.Ile873Val Single submitter
p.Ile935Leu Single submitter
p.Ile935Thr Single submitter
p.Ile992Thr Single submitter
p.Leu1060His Single submitter
p.Leu1423Val Single submitter
p.Leu1579Ser Single submitter
p.Leu1706Gln Single submitter
p.Leu1714Pro Single submitter
p.Leu412Pro Single submitter ⚠
p.Leu675Val Single submitter
p.Leu938Val Single submitter
p.Leu959Pro Single submitter
p.Lys1122Thr Single submitter
p.Lys1172Glu Single submitter
p.Lys1177Thr Single submitter
p.Lys1609Asn Single submitter
p.Lys1648Asn Single submitter
p.Lys318Asn Single submitter ⚠
p.Lys508Gln Single submitter ⚠
p.Lys624Asn Single submitter
p.Lys823Arg Single submitter
p.Met1339Val Single submitter
p.Met147Ile Single submitter ⚠
p.Met1736Lys Single submitter ⚠
p.Met330Thr Single submitter ⚠
p.Met78Lys Single submitter ⚠
p.Met865Thr Single submitter
p.Phe1786Ile Single submitter ⚠
p.Phe528Leu Single submitter
p.Pro1360Leu Single submitter
p.Pro4Ser Single submitter ⚠
p.Pro538Ser Single submitter
p.Pro637Leu Single submitter
p.Pro888Ser Single submitter
p.Pro996Ser Single submitter
p.Ser1210Pro Single submitter
p.Ser1269Thr Single submitter
p.Ser1301Pro Single submitter
p.Ser1577Gly Single submitter
p.Ser25Phe Single submitter ⚠
p.Ser293Tyr Single submitter ⚠
p.Ser50Pro Single submitter ⚠
p.Ser659Cys Single submitter
p.Ser847Arg Single submitter
p.Ser957Tyr Single submitter
p.Thr1267Asn Single submitter
p.Thr1394Asn Single submitter
p.Thr1580Ile Single submitter
p.Thr1702Pro Single submitter
p.Thr1718Ala Single submitter
p.Thr259Ser Single submitter ⚠
p.Thr372Met Single submitter ⚠
p.Thr583Ile Single submitter
p.Thr961Arg Single submitter
p.Trp1505Cys Single submitter
p.Trp1517Leu Single submitter
p.Tyr1183His Single submitter
p.Tyr129Cys Single submitter ⚠
p.Tyr129His Single submitter ⚠
p.Tyr241Cys Single submitter ⚠
p.Tyr863Cys Single submitter
p.Tyr976Cys Single submitter
p.Val101Met Single submitter ⚠
p.Val548Ala Single submitter