CCDC180 — 275 ClinVar variants

All ClinVar germline CCDC180 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →

5 Conflicting · 2 Benign · 32 Likely benign · 236 Uncertain significance

Full CCDC180 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 239

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 agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 209

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 209

Predictors split 27

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

All CCDC180 variants

Conflicting classifications of pathogenicity 5

p.Arg979Trp Single submitter Mycotic Aneurysm, Intracranial ⚠
p.Glu1515Lys Single submitter ⚠
p.Glu1578Lys Single submitter ⚠
p.His841Asp Single submitter ⚠
p.Thr8Pro Single submitter ⚠

Benign 2

p.Ser812Cys Multiple submitters
p.Gly1245Ala Single submitter

Likely benign 32

c.-113G>A Single submitter
p.Ala1241Thr Single submitter
p.Arg1215Lys Single submitter
p.Arg1316Gln Single submitter
p.Arg1445Gln Single submitter
p.Arg297His Single submitter
p.Asn1343Lys Single submitter
p.Asn346Lys Single submitter
p.Gln129Arg Single submitter
p.Gln627His Single submitter
p.Gln748Glu Single submitter
p.Glu491Lys Single submitter
p.Gly1240= Single submitter
p.Gly5= Single submitter
p.Leu356= Single submitter
p.Lys501= Single submitter
p.Lys681Glu Single submitter
p.Lys742Glu Single submitter
p.Met1155Val Single submitter
p.Phe1439= Single submitter
p.Ser1094Leu Single submitter
p.Ser1341Asn Single submitter
p.Ser1633= Single submitter
p.Ser472Leu Single submitter
p.Thr1632= Single submitter
p.Tyr770Ser Single submitter
p.Val1189Leu Single submitter
p.Val1263Ile Single submitter
p.Val1432Met Single submitter
p.Val266Ile Single submitter
p.Val391Met Single submitter
p.Val55= Single submitter

Uncertain significance 236

c.-102C>G Single submitter ⚠
c.-104C>T Single submitter ⚠
c.-107C>G Single submitter ⚠
c.-129C>G Single submitter ⚠
p.Ala106Thr Single submitter ⚠
p.Ala1348Thr Single submitter ⚠
p.Ala149Val Single submitter ⚠
p.Ala1511Asp Single submitter ⚠
p.Ala1511Val Single submitter ⚠
p.Ala1551Thr Single submitter ⚠
p.Ala264Asp Single submitter ⚠
p.Ala31Ser Single submitter ⚠
p.Ala324Ser Single submitter ⚠
p.Ala444Pro Single submitter ⚠
p.Ala571Gly Single submitter ⚠
p.Ala583Ser Single submitter ⚠
p.Ala599Gly Single submitter ⚠
p.Ala747Pro Single submitter ⚠
p.Ala805Val Single submitter ⚠
p.Ala836Ser Single submitter ⚠
p.Arg1027Gln Single submitter ⚠
p.Arg1076Gln Single submitter ⚠
p.Arg110Trp Single submitter ⚠
p.Arg1200Cys Single submitter ⚠
p.Arg1200His Single submitter ⚠
p.Arg1239Lys Single submitter ⚠
p.Arg1247Trp Single submitter ⚠
p.Arg1278Gln Single submitter ⚠
p.Arg1280Gln Single submitter ⚠
p.Arg1280Trp Single submitter ⚠
p.Arg1316Pro Single submitter ⚠
p.Arg1316Trp Single submitter ⚠
p.Arg1353His Single submitter ⚠
p.Arg1445Trp Single submitter ⚠
p.Arg1480Gly Single submitter ⚠
p.Arg1500Gly Single submitter ⚠
p.Arg1547Gln Single submitter ⚠
p.Arg1566His Single submitter ⚠
p.Arg208Trp Single submitter ⚠
p.Arg212Trp Single submitter ⚠
p.Arg230Gln Single submitter ⚠
p.Arg253Trp Single submitter ⚠
p.Arg275Trp Single submitter ⚠
p.Arg297Cys Single submitter ⚠
p.Arg36Gln Single submitter ⚠
p.Arg396Gln Single submitter ⚠
p.Arg396Trp Single submitter ⚠
p.Arg398Cys Single submitter ⚠
p.Arg398His Single submitter ⚠
p.Arg40Pro Single submitter ⚠
p.Arg66Gln Single submitter ⚠
p.Arg835Gln Single submitter ⚠
p.Arg854Trp Single submitter ⚠
p.Arg976Cys Single submitter ⚠
p.Arg976His Single submitter ⚠
p.Asn1093Ser Single submitter ⚠
p.Asn1100His Single submitter ⚠
p.Asn1162Thr Single submitter ⚠
p.Asn1460His Single submitter ⚠
p.Asn1502Ser Single submitter ⚠
p.Asn380Lys Single submitter ⚠
p.Asn888Lys Single submitter ⚠
p.Asp1212Gly Single submitter ⚠
p.Asp1233Val Single submitter ⚠
p.Asp1485Tyr Single submitter ⚠
p.Asp1522Gly Single submitter ⚠
p.Asp192Asn Single submitter ⚠
p.Asp361Ala Single submitter ⚠
p.Asp522Asn Single submitter ⚠
p.Cys1230Arg Single submitter ⚠
p.Cys1372Arg Single submitter ⚠
p.Cys415Tyr Single submitter ⚠
p.Gln1082Pro Single submitter ⚠
p.Gln1540Glu Single submitter ⚠
p.Gln18His Single submitter ⚠
p.Gln748Pro Single submitter ⚠
p.Gln921Glu Single submitter ⚠
p.Gln923Arg Single submitter ⚠
p.Glu101Lys Single submitter ⚠
p.Glu1040Lys Single submitter ⚠
p.Glu1327Lys Single submitter ⚠
p.Glu1374Lys Single submitter ⚠
p.Glu138Lys Single submitter ⚠
p.Glu1469Gly Single submitter ⚠
p.Glu1483Lys Single submitter ⚠
p.Glu1497Gln Single submitter ⚠
p.Glu1523Lys Single submitter ⚠
p.Glu1560Lys Single submitter ⚠
p.Glu1637Val Single submitter ⚠
p.Glu218Val Single submitter ⚠
p.Glu246Ala Single submitter ⚠
p.Glu339Gln Single submitter ⚠
p.Glu39Gly Single submitter ⚠
p.Glu461Lys Single submitter ⚠
p.Glu535Gln Single submitter ⚠
p.Glu654Gly Single submitter ⚠
p.Glu694Lys Single submitter ⚠
p.Glu701Lys Single submitter ⚠
p.Glu731Lys Single submitter ⚠
p.Glu744Asp Single submitter ⚠
p.Glu752Gly Single submitter ⚠
p.Glu792Lys Single submitter ⚠
p.Glu893Lys Single submitter ⚠
p.Gly1006Arg Single submitter ⚠
p.Gly1007Asp Single submitter ⚠
p.Gly111Ser Single submitter ⚠
p.Gly1331Arg Single submitter ⚠
p.Gly302Ala Single submitter ⚠
p.Gly643Glu Single submitter ⚠
p.His1062Arg Single submitter ⚠
p.His1228Asn Single submitter ⚠
p.His1423Tyr Single submitter ⚠
p.His1458Tyr Single submitter ⚠
p.His224Tyr Single submitter ⚠
p.His355Leu Single submitter ⚠
p.His390Tyr Single submitter ⚠
p.His510Arg Single submitter ⚠
p.His520Tyr Single submitter ⚠
p.His679Leu Single submitter ⚠
p.His904Arg Single submitter
p.Ile1214Asn Single submitter ⚠
p.Ile1214Met Single submitter ⚠
p.Ile121Thr Single submitter ⚠
p.Ile1527Thr Single submitter ⚠
p.Ile159Val Single submitter ⚠
p.Ile1652Leu Single submitter ⚠
p.Ile359Phe Single submitter ⚠
p.Ile49Thr Single submitter ⚠
p.Leu1017Val Single submitter ⚠
p.Leu112Phe Single submitter ⚠
p.Leu1318His Single submitter ⚠
p.Leu1408Val Single submitter ⚠
p.Leu190Phe Single submitter ⚠
p.Leu190Val Single submitter ⚠
p.Leu199Pro Single submitter ⚠
p.Leu362Phe Single submitter ⚠
p.Leu433Gln Single submitter ⚠
p.Leu44Arg Single submitter ⚠
p.Leu463Arg Single submitter ⚠
p.Leu548Met Single submitter ⚠
p.Leu912Arg Single submitter
p.Leu975Val Single submitter ⚠
p.Leu989Pro Single submitter ⚠
p.Lys1023Arg Single submitter ⚠
p.Lys1041Asn Single submitter ⚠
p.Lys1120Arg Single submitter ⚠
p.Lys1138Glu Single submitter ⚠
p.Lys1321Glu Single submitter ⚠
p.Lys1354Thr Single submitter ⚠
p.Lys1356Glu Single submitter ⚠
p.Lys1378Thr Single submitter ⚠
p.Lys1549Arg Single submitter ⚠
p.Lys1584Arg Single submitter ⚠
p.Lys239Arg Single submitter ⚠
p.Lys552Asn Single submitter ⚠
p.Lys605Arg Single submitter ⚠
p.Lys621Glu Single submitter ⚠
p.Lys69Arg Single submitter ⚠
p.Lys952Asn Single submitter ⚠
p.Met1417Val Single submitter ⚠
p.Met1544Val Single submitter ⚠
p.Met252Thr Single submitter ⚠
p.Met323Val Single submitter ⚠
p.Met341Ile Single submitter ⚠
p.Met551Thr Single submitter ⚠
p.Met567Ile Single submitter ⚠
p.Met682Thr Single submitter ⚠
p.Met71Leu Single submitter ⚠
p.Met80Ile Single submitter ⚠
p.Phe1517Ser Single submitter ⚠
p.Phe282Ser Single submitter ⚠
p.Phe589Leu Single submitter ⚠
p.Phe589Ser Single submitter ⚠
p.Phe606Ile Single submitter ⚠
p.Pro1011Leu Single submitter ⚠
p.Pro118Ser Single submitter ⚠
p.Pro1204His Single submitter ⚠
p.Pro1221Leu Single submitter ⚠
p.Pro1234Gln Single submitter ⚠
p.Pro1234Leu Single submitter ⚠
p.Pro1304Leu Single submitter ⚠
p.Pro1304Ser Single submitter ⚠
p.Pro1464Ala Single submitter ⚠
p.Pro1538Arg Single submitter ⚠
p.Pro1576Leu Single submitter ⚠
p.Pro570Ser Single submitter ⚠
p.Pro58Arg Single submitter ⚠
p.Pro615Leu Single submitter ⚠
p.Pro823Ser Single submitter ⚠
p.Ser100Asn Single submitter ⚠
p.Ser1010Pro Single submitter ⚠
p.Ser1065Pro Single submitter ⚠
p.Ser1102Cys Single submitter ⚠
p.Ser1246Phe Single submitter ⚠
p.Ser1260Pro Single submitter ⚠
p.Ser1266Pro Single submitter ⚠
p.Ser1271Pro Single submitter ⚠
p.Ser1385Arg Single submitter ⚠
p.Ser1543Leu Single submitter ⚠
p.Ser1644Asn Single submitter ⚠
p.Ser325Gly Single submitter ⚠
p.Ser327Asn Single submitter ⚠
p.Ser366Gly Single submitter ⚠
p.Ser585Cys Single submitter ⚠
p.Ser73Gly Single submitter ⚠
p.Ser755Thr Single submitter ⚠
p.Ser824Leu Single submitter ⚠
p.Thr1079Met Single submitter ⚠
p.Thr115Ser Single submitter ⚠
p.Thr1227Ala Single submitter ⚠
p.Thr1512Ser Single submitter ⚠
p.Thr1590Ala Single submitter ⚠
p.Thr1632Ile Single submitter ⚠
p.Thr358Ser Single submitter ⚠
p.Thr373Ser Single submitter ⚠
p.Thr467Ala Single submitter ⚠
p.Trp1242Leu Single submitter ⚠
p.Trp202Leu Single submitter ⚠
p.Trp375Cys Single submitter ⚠
p.Tyr1656Cys Single submitter ⚠
p.Tyr16Asn Single submitter ⚠
p.Tyr257His Single submitter ⚠
p.Tyr269Cys Single submitter ⚠
p.Tyr587Cys Single submitter ⚠
p.Val1189Ala Single submitter ⚠
p.Val1189Met Single submitter ⚠
p.Val1416Leu Single submitter ⚠
p.Val24Met Single submitter ⚠
p.Val27Ala Single submitter ⚠
p.Val340Leu Single submitter ⚠
p.Val4Gly Single submitter ⚠
p.Val55Leu Single submitter ⚠
p.Val698Ile Single submitter ⚠
p.Val857Met Single submitter ⚠
p.Val928Met Single submitter ⚠
p.Pro615Ala No assertion criteria breast ductal adenocarcinoma ⚠