CCDC88B — 285 ClinVar variants

All ClinVar germline CCDC88B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 276 flagged for review →

1 Benign · 9 Likely benign · 275 Uncertain significance

Full CCDC88B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 276

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 121

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

Predictors split 155

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 155

All CCDC88B variants

Benign 1

p.Leu1234= Multiple submitters

Likely benign 9

p.Ala1059Ser Single submitter
p.Ala247Thr Single submitter
p.Ala960Val Single submitter
p.Arg378Gln Single submitter
p.Asp512Glu Single submitter
p.Pro535Leu Single submitter
p.Pro576= Single submitter
p.Pro589Leu Single submitter
p.Val1431Ile Single submitter ⚠

Uncertain significance 275

p.Ala1025Thr Single submitter ⚠
p.Ala1025Val Single submitter ⚠
p.Ala1059Val Single submitter ⚠
p.Ala1112Thr Single submitter ⚠
p.Ala1132Val Single submitter ⚠
p.Ala1251Ser Single submitter ⚠
p.Ala1251Thr Single submitter ⚠
p.Ala1283Ser Single submitter ⚠
p.Ala1283Val Single submitter ⚠
p.Ala1429Val Single submitter ⚠
p.Ala1445Thr Single submitter ⚠
p.Ala173Ser Single submitter ⚠
p.Ala173Val Single submitter ⚠
p.Ala198Ser Single submitter ⚠
p.Ala304Thr Single submitter ⚠
p.Ala346Gly Single submitter ⚠
p.Ala365Ser Single submitter ⚠
p.Ala403Glu Single submitter ⚠
p.Ala456Val Single submitter ⚠
p.Ala510Val Single submitter ⚠
p.Ala592Asp Single submitter ⚠
p.Ala629Asp Single submitter ⚠
p.Ala677Gly Single submitter ⚠
p.Ala725Thr Single submitter ⚠
p.Ala743Ser Single submitter ⚠
p.Ala757Ser Single submitter ⚠
p.Ala762Thr Single submitter ⚠
p.Ala772Thr Single submitter ⚠
p.Ala813Thr Single submitter ⚠
p.Ala817Val Single submitter ⚠
p.Ala821Val Single submitter ⚠
p.Ala837Ser Single submitter ⚠
p.Ala842Thr Single submitter ⚠
p.Ala872Val Single submitter ⚠
p.Ala898Val Single submitter ⚠
p.Ala929Val Single submitter ⚠
p.Ala931Val Single submitter ⚠
p.Ala960Thr Single submitter ⚠
p.Ala968Val Single submitter ⚠
p.Arg1014Cys Single submitter ⚠
p.Arg1014His Single submitter ⚠
p.Arg1024Trp Single submitter ⚠
p.Arg1048Gln Single submitter ⚠
p.Arg1048Trp Single submitter ⚠
p.Arg1061Trp Single submitter ⚠
p.Arg1076Gln Single submitter ⚠
p.Arg1076Trp Single submitter ⚠
p.Arg1086Gln Single submitter ⚠
p.Arg1087Trp Single submitter ⚠
p.Arg1100Gln Single submitter ⚠
p.Arg1107Trp Single submitter ⚠
p.Arg1114Gln Single submitter ⚠
p.Arg1143His Single submitter ⚠
p.Arg1150Trp Single submitter ⚠
p.Arg1159Gln Single submitter ⚠
p.Arg1177Gln Single submitter ⚠
p.Arg1177Leu Single submitter ⚠
p.Arg1177Trp Single submitter ⚠
p.Arg1190Trp Single submitter ⚠
p.Arg1192Gln Single submitter ⚠
p.Arg1195Gln Single submitter ⚠
p.Arg1223Gln Single submitter ⚠
p.Arg1223Trp Single submitter ⚠
p.Arg1235Gln Single submitter ⚠
p.Arg1243Gln Single submitter ⚠
p.Arg1243Trp Single submitter ⚠
p.Arg1267Gln Single submitter ⚠
p.Arg1267Leu Single submitter ⚠
p.Arg1275Gln Single submitter ⚠
p.Arg1275Trp Single submitter ⚠
p.Arg1286Cys Single submitter ⚠
p.Arg1286His Single submitter ⚠
p.Arg1286Leu Single submitter ⚠
p.Arg1300His Single submitter ⚠
p.Arg1309Trp Single submitter ⚠
p.Arg1325Trp Single submitter ⚠
p.Arg1327Leu Single submitter ⚠
p.Arg1327Trp Single submitter ⚠
p.Arg1337Cys Single submitter ⚠
p.Arg1337His Single submitter ⚠
p.Arg1376Gln Single submitter ⚠
p.Arg1393Trp Single submitter ⚠
p.Arg1394Gln Single submitter ⚠
p.Arg1394Trp Single submitter ⚠
p.Arg1418Gln Single submitter ⚠
p.Arg1422His Single submitter ⚠
p.Arg158Cys Single submitter ⚠
p.Arg220His Single submitter ⚠
p.Arg268Trp Single submitter ⚠
p.Arg269Ser Single submitter ⚠
p.Arg271Gln Single submitter ⚠
p.Arg271Trp Single submitter ⚠
p.Arg316His Single submitter ⚠
p.Arg328Cys Single submitter ⚠
p.Arg328Ser Single submitter ⚠
p.Arg340Gly Single submitter ⚠
p.Arg357Gln Single submitter ⚠
p.Arg389Ser Single submitter ⚠
p.Arg395Gln Single submitter ⚠
p.Arg428Trp Single submitter ⚠
p.Arg462Gln Single submitter ⚠
p.Arg466Lys Single submitter ⚠
p.Arg472Gln Single submitter ⚠
p.Arg472Trp Single submitter ⚠
p.Arg55Cys Single submitter ⚠
p.Arg691Lys Single submitter ⚠
p.Arg691Ser Single submitter ⚠
p.Arg731Gly Single submitter ⚠
p.Arg74Gln Single submitter ⚠
p.Arg764Cys Single submitter ⚠
p.Arg781Trp Single submitter ⚠
p.Arg792Gln Single submitter ⚠
p.Arg792Trp Single submitter ⚠
p.Arg794Trp Single submitter ⚠
p.Arg811Gln Single submitter ⚠
p.Arg811Gly Single submitter ⚠
p.Arg823Gln Single submitter ⚠
p.Arg823Trp Single submitter ⚠
p.Arg825Gln Single submitter ⚠
p.Arg830Cys Single submitter ⚠
p.Arg830His Single submitter ⚠
p.Arg830Pro Single submitter ⚠
p.Arg834Gly Single submitter ⚠
p.Arg836Gln Single submitter ⚠
p.Arg845Gln Single submitter ⚠
p.Arg845Gly Single submitter ⚠
p.Arg854Cys Single submitter ⚠
p.Arg854His Single submitter ⚠
p.Arg864His Single submitter ⚠
p.Arg880Gln Single submitter ⚠
p.Arg880Pro Single submitter ⚠
p.Arg887Gln Single submitter ⚠
p.Arg893Cys Single submitter ⚠
p.Arg922Trp Single submitter ⚠
p.Arg956Cys Single submitter ⚠
p.Arg956His Single submitter ⚠
p.Arg979Trp Single submitter ⚠
p.Arg985Cys Single submitter ⚠
p.Arg985His Single submitter ⚠
p.Asp1341Asn Single submitter ⚠
p.Asp1341His Single submitter ⚠
p.Asp406Glu Single submitter ⚠
p.Asp58Asn Single submitter ⚠
p.Asp84Gly Single submitter ⚠
p.Cys1382Ser Single submitter ⚠
p.Cys150Arg Single submitter ⚠
p.Cys339Gly Single submitter ⚠
p.Cys547Gly Single submitter ⚠
p.Gln1227Arg Single submitter ⚠
p.Gln1227His Single submitter ⚠
p.Gln168His Single submitter ⚠
p.Gln266His Single submitter ⚠
p.Gln303Leu Single submitter ⚠
p.Gln388Arg Single submitter ⚠
p.Gln481Glu Single submitter ⚠
p.Gln528Lys Single submitter ⚠
p.Gln608Arg Single submitter ⚠
p.Gln827Arg Single submitter ⚠
p.Gln903Arg Single submitter ⚠
p.Gln914His Single submitter ⚠
p.Gln928His Single submitter ⚠
p.Gln957Leu Single submitter ⚠
p.Gln976His Single submitter ⚠
p.Glu1017Lys Single submitter ⚠
p.Glu1045Lys Single submitter ⚠
p.Glu1055Asp Single submitter ⚠
p.Glu1121Lys Single submitter ⚠
p.Glu1131Lys Single submitter ⚠
p.Glu1164Lys Single submitter ⚠
p.Glu1229Lys Single submitter ⚠
p.Glu131Ala Single submitter ⚠
p.Glu1442Val Single submitter ⚠
p.Glu1452Lys Single submitter ⚠
p.Glu154Lys Single submitter ⚠
p.Glu235Asp Single submitter ⚠
p.Glu324Gly Single submitter ⚠
p.Glu400Asp Single submitter ⚠
p.Glu42Asp Single submitter ⚠
p.Glu457Lys Single submitter ⚠
p.Glu503Asp Single submitter ⚠
p.Glu578Gln Single submitter ⚠
p.Glu625Lys Single submitter ⚠
p.Glu633Lys Single submitter ⚠
p.Glu661Gln Single submitter ⚠
p.Glu749Lys Single submitter ⚠
p.Glu812Gln Single submitter ⚠
p.Glu843Lys Single submitter ⚠
p.Glu852Gly Single submitter ⚠
p.Glu859Ala Single submitter ⚠
p.Glu889Gly Single submitter ⚠
p.Glu894Lys Single submitter ⚠
p.Glu920Gln Single submitter ⚠
p.Glu949Lys Single submitter ⚠
p.Gly1043Ser Single submitter ⚠
p.Gly1153Ser Single submitter ⚠
p.Gly1313Val Single submitter ⚠
p.Gly1331Val Single submitter ⚠
p.Gly1360Ala Single submitter ⚠
p.Gly1391Arg Single submitter ⚠
p.Gly1425Val Single submitter ⚠
p.Gly223Glu Single submitter ⚠
p.Gly361Arg Single submitter ⚠
p.Gly3Arg Single submitter ⚠
p.Gly4Val Single submitter ⚠
p.Gly526Asp Single submitter ⚠
p.Gly526Ser Single submitter ⚠
p.Gly621Val Single submitter ⚠
p.Gly881Ala Single submitter ⚠
p.Gly881Asp Single submitter ⚠
p.His1149Arg Single submitter ⚠
p.His1149Leu Single submitter ⚠
p.His1423Asn Single submitter ⚠
p.His513Tyr Single submitter ⚠
p.His856Gln Single submitter ⚠
p.Ile68Thr Single submitter ⚠
p.Leu1050Val Single submitter ⚠
p.Leu1111Val Single submitter ⚠
p.Leu1116Arg Single submitter ⚠
p.Leu120Phe Single submitter ⚠
p.Leu1245Met Single submitter ⚠
p.Leu426Phe Single submitter ⚠
p.Leu562Ile Single submitter ⚠
p.Leu793Val Single submitter ⚠
p.Leu948Gln Single submitter ⚠
p.Leu94Gln Single submitter ⚠
p.Leu952Met Single submitter ⚠
p.Lys613Gln Single submitter ⚠
p.Lys994Arg Single submitter ⚠
p.Met1374Arg Single submitter ⚠
p.Met210Arg Single submitter ⚠
p.Met846Arg Single submitter ⚠
p.Met989Ile Single submitter ⚠
p.Phe1400Leu Single submitter ⚠
p.Phe1419Leu Single submitter ⚠
p.Pro1353Leu Single submitter ⚠
p.Pro1371Leu Single submitter ⚠
p.Pro1401Leu Single submitter ⚠
p.Pro1401Ser Single submitter ⚠
p.Pro1426Ala Single submitter ⚠
p.Pro1465Leu Single submitter ⚠
p.Pro241Leu Single submitter ⚠
p.Pro244Ser Single submitter ⚠
p.Pro252Leu Single submitter ⚠
p.Pro432Ser Single submitter ⚠
p.Pro433Leu Single submitter ⚠
p.Pro45Ala Single submitter ⚠
p.Pro482Thr Single submitter ⚠
p.Pro499Thr Single submitter ⚠
p.Pro548Arg Single submitter ⚠
p.Pro576Leu Single submitter ⚠
p.Pro617Ala Single submitter ⚠
p.Pro666Ser Single submitter ⚠
p.Pro693Thr Single submitter ⚠
p.Ser1022Gly Single submitter ⚠
p.Ser1266Thr Single submitter ⚠
p.Ser1370Phe Single submitter ⚠
p.Ser164Arg Single submitter ⚠
p.Ser164Ile Single submitter ⚠
p.Ser514Asn Single submitter ⚠
p.Ser719Arg Single submitter ⚠
p.Ser839Leu Single submitter ⚠
p.Ser851Arg Single submitter ⚠
p.Ser911Asn Single submitter ⚠
p.Thr624Ile Single submitter ⚠
p.Thr674Met Single submitter ⚠
p.Val1301Leu Single submitter ⚠
p.Val1305Met Single submitter ⚠
p.Val185Glu Single submitter ⚠
p.Val477Glu Single submitter ⚠
p.Val540Met Single submitter ⚠
p.Val635Gly Single submitter ⚠
p.Val708Phe Single submitter ⚠
p.Val710Ile Single submitter ⚠
p.Val734Ala Single submitter ⚠
p.Val978Ala Single submitter ⚠