CCDC18 — 197 ClinVar variants
All ClinVar germline CCDC18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →
17 Benign · 20 Likely benign · 160 Uncertain significance
Full CCDC18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 165
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 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC18 p.Ala1077Val Uncertain significance Single submitter
- CCDC18 p.Ala1209Gly Uncertain significance Single submitter
- CCDC18 p.Ala1287Thr Uncertain significance Single submitter
- CCDC18 p.Ala373Ser Uncertain significance Single submitter
- CCDC18 p.Ala436Thr Uncertain significance Single submitter
- CCDC18 p.Ala940Val Uncertain significance Single submitter
- CCDC18 p.Arg1082Gln Uncertain significance Single submitter
- CCDC18 p.Arg365Gln Uncertain significance Single submitter
- CCDC18 p.Arg370His Uncertain significance Single submitter
- CCDC18 p.Arg893Gln Uncertain significance Single submitter
- CCDC18 p.Arg944Gln Uncertain significance Single submitter
- CCDC18 p.Asn127Lys Uncertain significance Single submitter
- CCDC18 p.Asn284Lys Uncertain significance Single submitter
- CCDC18 p.Asn362Lys Uncertain significance Single submitter
- CCDC18 p.Asn375Ser Uncertain significance Single submitter
- CCDC18 p.Asn57Asp Uncertain significance Single submitter
- CCDC18 p.Asn745His Uncertain significance Single submitter
- CCDC18 p.Asp351Ala Uncertain significance Single submitter
- CCDC18 p.Asp93Asn Uncertain significance Single submitter
- CCDC18 p.Gln125Glu Uncertain significance Single submitter
- CCDC18 p.Gln163Glu Uncertain significance Single submitter
- CCDC18 p.Gln174Lys Uncertain significance Single submitter
- CCDC18 p.Gln534Arg Uncertain significance Single submitter
- CCDC18 p.Gln534Glu Uncertain significance Single submitter
- CCDC18 p.Gln557Glu Uncertain significance Single submitter
- CCDC18 p.Gln580Leu Uncertain significance Single submitter
- CCDC18 p.Gln665Lys Uncertain significance Single submitter
- CCDC18 p.Gln794Pro Uncertain significance Single submitter
- CCDC18 p.Gln801Glu Uncertain significance Single submitter
- CCDC18 p.Gln801Lys Uncertain significance Single submitter
- CCDC18 p.Glu1255Gln Uncertain significance Single submitter
- CCDC18 p.Glu1255Lys Uncertain significance Single submitter
- CCDC18 p.Glu1266Ala Uncertain significance Single submitter
- CCDC18 p.Glu16Asp Uncertain significance Single submitter
- CCDC18 p.Glu335Lys Uncertain significance Single submitter
- CCDC18 p.Glu500Gly Uncertain significance Single submitter
- CCDC18 p.Glu608Lys Uncertain significance Single submitter
- CCDC18 p.Glu82Ala Uncertain significance Single submitter
- CCDC18 p.Glu992Asp Uncertain significance Single submitter
- CCDC18 p.Gly1051Ala Uncertain significance Single submitter
- CCDC18 p.Gly1134Arg Uncertain significance Single submitter
- CCDC18 p.His1148Asn Uncertain significance Single submitter
- CCDC18 p.His1236Asn Uncertain significance Single submitter
- CCDC18 p.His508Arg Uncertain significance Single submitter
- CCDC18 p.His777Asp Uncertain significance Single submitter
- CCDC18 p.Ile1131Thr Uncertain significance Single submitter
- CCDC18 p.Ile113Met Uncertain significance Single submitter
- CCDC18 p.Ile1241Leu Uncertain significance Single submitter
- CCDC18 p.Ile175Val Uncertain significance Single submitter
- CCDC18 p.Ile431Val Uncertain significance Single submitter
- CCDC18 p.Ile525Leu Uncertain significance Single submitter
- CCDC18 p.Ile788Thr Uncertain significance Single submitter
- CCDC18 p.Ile805Val Uncertain significance Single submitter
- CCDC18 p.Ile861Thr Uncertain significance Single submitter
- CCDC18 p.Ile872Thr Uncertain significance Single submitter
- CCDC18 p.Leu1014Phe Uncertain significance Single submitter
- CCDC18 p.Leu248Pro Uncertain significance Single submitter
- CCDC18 p.Leu392Ile Uncertain significance Single submitter
- CCDC18 p.Lys397Arg Uncertain significance Single submitter
- CCDC18 p.Lys397Asn Uncertain significance Single submitter
- CCDC18 p.Lys512Glu Uncertain significance Single submitter
- CCDC18 p.Lys841Arg Uncertain significance Single submitter
- CCDC18 p.Lys96Glu Uncertain significance Single submitter
- CCDC18 p.Met1033Val Uncertain significance Single submitter
- CCDC18 p.Met1109Thr Uncertain significance Single submitter
- CCDC18 p.Met1229Thr Uncertain significance Single submitter
- CCDC18 p.Met361Val Uncertain significance Single submitter
- CCDC18 p.Met546Leu Uncertain significance Single submitter
- CCDC18 p.Met998Lys Uncertain significance Single submitter
- CCDC18 p.Phe103Cys Uncertain significance Single submitter
- CCDC18 p.Pro48Ala Uncertain significance Single submitter
- CCDC18 p.Ser1242Phe Uncertain significance Single submitter
- CCDC18 p.Ser388Thr Uncertain significance Single submitter
- CCDC18 p.Ser45Arg Uncertain significance Single submitter
- CCDC18 p.Ser480Ile Uncertain significance Single submitter
- CCDC18 p.Ser61Pro Uncertain significance Single submitter
- CCDC18 p.Ser731Ala Uncertain significance Single submitter
- CCDC18 p.Ser932Arg Uncertain significance Single submitter
- CCDC18 p.Thr1270Ala Uncertain significance Single submitter
- CCDC18 p.Thr473Ile Uncertain significance Single submitter
- CCDC18 p.Thr621Ala Uncertain significance Single submitter
- CCDC18 p.Thr625Ala Uncertain significance Single submitter
- CCDC18 p.Thr695Lys Uncertain significance Single submitter
- CCDC18 p.Thr695Met Uncertain significance Single submitter
- CCDC18 p.Thr866Ala Uncertain significance Single submitter
- CCDC18 p.Tyr243Cys Uncertain significance Single submitter
- CCDC18 p.Tyr418Cys Uncertain significance Single submitter
- CCDC18 p.Tyr8Cys Uncertain significance Single submitter
- CCDC18 p.Tyr983His Uncertain significance Single submitter
- CCDC18 p.Val1284Ala Uncertain significance Single submitter
- CCDC18 p.Val1284Leu Uncertain significance Single submitter
- CCDC18 p.Val182Ile Uncertain significance Single submitter
- CCDC18 p.Val203Ile Uncertain significance Single submitter
- CCDC18 p.Val68Ile Uncertain significance Single submitter
- CCDC18 p.Val741Leu Uncertain significance Single submitter
- CCDC18 p.Val946Ile Uncertain significance Single submitter
Predictors split 69
The independent predictors disagree with each other — read with care.
- CCDC18 p.Ala1209Pro Uncertain significance Single submitter
- CCDC18 p.Ala241Thr Uncertain significance Single submitter
- CCDC18 p.Ala464Gly Uncertain significance Single submitter
- CCDC18 p.Arg1155His Uncertain significance Single submitter
- CCDC18 p.Arg1199His Uncertain significance Single submitter
- CCDC18 p.Arg1199Ser Uncertain significance Single submitter
- CCDC18 p.Arg549Gly Uncertain significance Single submitter
- CCDC18 p.Arg692Gly Uncertain significance Single submitter
- CCDC18 p.Arg944Trp Uncertain significance Single submitter
- CCDC18 p.Asp1183Asn Uncertain significance Single submitter
- CCDC18 p.Gln1160His Uncertain significance Single submitter
- CCDC18 p.Gln651His Uncertain significance Single submitter
- CCDC18 p.Gln684Arg Uncertain significance Single submitter
- CCDC18 p.Gln684His Uncertain significance Single submitter
- CCDC18 p.Glu1062Val Uncertain significance Single submitter
- CCDC18 p.Glu191Gly Uncertain significance Single submitter
- CCDC18 p.Glu212Asp Uncertain significance Single submitter
- CCDC18 p.Glu216Lys Uncertain significance Single submitter
- CCDC18 p.Glu299Gly Uncertain significance Single submitter
- CCDC18 p.Glu2Val Uncertain significance Single submitter
- CCDC18 p.Glu559Val Uncertain significance Single submitter
- CCDC18 p.Glu635Gly Uncertain significance Single submitter
- CCDC18 p.Glu635Val Uncertain significance Single submitter
- CCDC18 p.Glu879Gly Uncertain significance Single submitter
- CCDC18 p.His1030Tyr Uncertain significance Single submitter
- CCDC18 p.His686Tyr Uncertain significance Single submitter
- CCDC18 p.Ile1000Thr Uncertain significance Single submitter
- CCDC18 p.Ile1165Thr Likely benign Single submitter
- CCDC18 p.Ile1285Thr Uncertain significance Single submitter
- CCDC18 p.Leu1053Val Uncertain significance Single submitter
- CCDC18 p.Leu1098Pro Uncertain significance Single submitter
- CCDC18 p.Leu1264Phe Uncertain significance Single submitter
- CCDC18 p.Leu137Ile Uncertain significance Single submitter
- CCDC18 p.Leu224Val Uncertain significance Single submitter
- CCDC18 p.Leu263Pro Uncertain significance Single submitter
- CCDC18 p.Leu29Pro Uncertain significance Single submitter
- CCDC18 p.Leu360Phe Uncertain significance Single submitter
- CCDC18 p.Leu43Ser Uncertain significance Single submitter
- CCDC18 p.Leu448Phe Uncertain significance Single submitter
- CCDC18 p.Leu521Phe Uncertain significance Single submitter
- CCDC18 p.Leu542Phe Uncertain significance Single submitter
- CCDC18 p.Leu584Pro Uncertain significance Single submitter
- CCDC18 p.Leu690Val Uncertain significance Single submitter
- CCDC18 p.Leu800Val Uncertain significance Single submitter
- CCDC18 p.Lys1073Arg Uncertain significance Single submitter
- CCDC18 p.Lys1238Thr Uncertain significance Single submitter
- CCDC18 p.Lys1295Glu Uncertain significance Single submitter
- CCDC18 p.Lys154Glu Uncertain significance Single submitter
- CCDC18 p.Lys325Ile Uncertain significance Single submitter
- CCDC18 p.Lys707Asn Uncertain significance Single submitter
- CCDC18 p.Lys878Glu Uncertain significance Single submitter
- CCDC18 p.Met1033Thr Uncertain significance Single submitter
- CCDC18 p.Met546Thr Uncertain significance Single submitter
- CCDC18 p.Met648Thr Uncertain significance Single submitter
- CCDC18 p.Ser1169Phe Uncertain significance Single submitter
- CCDC18 p.Ser442Leu Uncertain significance Single submitter
- CCDC18 p.Ser477Arg Uncertain significance Single submitter
- CCDC18 p.Ser49Arg Uncertain significance Single submitter
- CCDC18 p.Ser49Asn Uncertain significance Single submitter
- CCDC18 p.Ser61Phe Likely benign Single submitter
- CCDC18 p.Ser697Gly Uncertain significance Single submitter
- CCDC18 p.Ser903Pro Uncertain significance Single submitter
- CCDC18 p.Thr523Ile Uncertain significance Single submitter
- CCDC18 p.Thr523Pro Uncertain significance Single submitter
- CCDC18 p.Thr792Ile Uncertain significance Single submitter
- CCDC18 p.Val821Met Uncertain significance Single submitter
-
CCDC18 p.Asn326Thr
Benign
No assertion criteria
CCDC18-related disorder
-
CCDC18 p.Glu571Lys
Likely benign
No assertion criteria
CCDC18-related disorder
-
CCDC18 p.Leu1081Val
Benign
No assertion criteria
CCDC18-related disorder
All CCDC18 variants
Benign 17
- p.Cys430= Multiple submitters
- p.Leu817= Multiple submitters
- p.Pro108= Multiple submitters
- c.2293-21AT[6] No assertion criteria CCDC18-related disorder
- c.569+9A>G No assertion criteria CCDC18-related disorder
- p.Arg1108= No assertion criteria CCDC18-related disorder
- p.Arg1108Ser No assertion criteria CCDC18-related disorder
- p.Arg1281= No assertion criteria CCDC18-related disorder
- p.Arg429Cys No assertion criteria CCDC18-related disorder
- p.Asn314= No assertion criteria CCDC18-related disorder
- p.Asn326Thr No assertion criteria CCDC18-related disorder ⚠
- p.Asn897Asp No assertion criteria CCDC18-related disorder
- p.Asp1269Glu No assertion criteria CCDC18-related disorder
- p.Gln794= No assertion criteria CCDC18-related disorder
- p.Glu443Asp No assertion criteria CCDC18-related disorder
- p.Ile1306Phe No assertion criteria CCDC18-related disorder
- p.Leu1081Val No assertion criteria CCDC18-related disorder ⚠
Likely benign 20
- c.2176-9C>T Single submitter
- p.Ala1288Thr Single submitter
- p.Asp356Glu Single submitter
- p.Ile1165Thr Single submitter ⚠
- p.Met510Val Single submitter
- p.Ser61Phe Single submitter ⚠
- p.Thr1423= Single submitter
- p.Val440Met Single submitter
- c.2982-6T>C No assertion criteria CCDC18-related disorder
- p.Ala153= No assertion criteria CCDC18-related disorder
- p.Asp1280= No assertion criteria CCDC18-related disorder
- p.Glu571Lys No assertion criteria CCDC18-related disorder ⚠
- p.Glu670= No assertion criteria CCDC18-related disorder
- p.Leu1424= No assertion criteria CCDC18-related disorder
- p.Leu39= No assertion criteria CCDC18-related disorder
- p.Leu448Pro No assertion criteria CCDC18-related disorder
- p.Lys1440delinsAsnLeu No assertion criteria CCDC18-related disorder
- p.Pro490His No assertion criteria CCDC18-related disorder
- p.Ser480Gly No assertion criteria CCDC18-related disorder
- p.Thr695= No assertion criteria CCDC18-related disorder
Uncertain significance 160
- p.Ala1077Val Single submitter ⚠
- p.Ala1209Gly Single submitter ⚠
- p.Ala1209Pro Single submitter ⚠
- p.Ala1287Thr Single submitter ⚠
- p.Ala241Thr Single submitter ⚠
- p.Ala373Ser Single submitter ⚠
- p.Ala436Thr Single submitter ⚠
- p.Ala464Gly Single submitter ⚠
- p.Ala940Val Single submitter ⚠
- p.Arg1082Gln Single submitter ⚠
- p.Arg1155His Single submitter ⚠
- p.Arg1199His Single submitter ⚠
- p.Arg1199Ser Single submitter ⚠
- p.Arg365Gln Single submitter ⚠
- p.Arg370His Single submitter ⚠
- p.Arg549Gly Single submitter ⚠
- p.Arg692Gly Single submitter ⚠
- p.Arg893Gln Single submitter ⚠
- p.Arg944Gln Single submitter ⚠
- p.Arg944Trp Single submitter ⚠
- p.Asn127Lys Single submitter ⚠
- p.Asn284Lys Single submitter ⚠
- p.Asn362Lys Single submitter ⚠
- p.Asn375Ser Single submitter ⚠
- p.Asn57Asp Single submitter ⚠
- p.Asn745His Single submitter ⚠
- p.Asp1183Asn Single submitter ⚠
- p.Asp351Ala Single submitter ⚠
- p.Asp93Asn Single submitter ⚠
- p.Gln1160His Single submitter ⚠
- p.Gln125Glu Single submitter ⚠
- p.Gln163Glu Single submitter ⚠
- p.Gln174Lys Single submitter ⚠
- p.Gln534Arg Single submitter ⚠
- p.Gln534Glu Single submitter ⚠
- p.Gln557Glu Single submitter ⚠
- p.Gln580Leu Single submitter ⚠
- p.Gln651His Single submitter ⚠
- p.Gln665Lys Single submitter ⚠
- p.Gln684Arg Single submitter ⚠
- p.Gln684His Single submitter ⚠
- p.Gln794Pro Single submitter ⚠
- p.Gln801Glu Single submitter ⚠
- p.Gln801Lys Single submitter ⚠
- p.Glu1062Val Single submitter ⚠
- p.Glu1255Gln Single submitter ⚠
- p.Glu1255Lys Single submitter ⚠
- p.Glu1266Ala Single submitter ⚠
- p.Glu16Asp Single submitter ⚠
- p.Glu191Gly Single submitter ⚠
- p.Glu212Asp Single submitter ⚠
- p.Glu216Lys Single submitter ⚠
- p.Glu299Gly Single submitter ⚠
- p.Glu2Val Single submitter ⚠
- p.Glu335Lys Single submitter ⚠
- p.Glu500Gly Single submitter ⚠
- p.Glu559Val Single submitter ⚠
- p.Glu608Lys Single submitter ⚠
- p.Glu635Gly Single submitter ⚠
- p.Glu635Val Single submitter ⚠
- p.Glu82Ala Single submitter ⚠
- p.Glu879Gly Single submitter ⚠
- p.Glu992Asp Single submitter ⚠
- p.Gly1051Ala Single submitter ⚠
- p.Gly1134Arg Single submitter ⚠
- p.His1030Tyr Single submitter ⚠
- p.His1148Asn Single submitter ⚠
- p.His1236Asn Single submitter ⚠
- p.His508Arg Single submitter ⚠
- p.His686Tyr Single submitter ⚠
- p.His777Asp Single submitter ⚠
- p.Ile1000Thr Single submitter ⚠
- p.Ile1131Thr Single submitter ⚠
- p.Ile113Met Single submitter ⚠
- p.Ile1241Leu Single submitter ⚠
- p.Ile1285Thr Single submitter ⚠
- p.Ile175Val Single submitter ⚠
- p.Ile431Val Single submitter ⚠
- p.Ile525Leu Single submitter ⚠
- p.Ile788Thr Single submitter ⚠
- p.Ile805Val Single submitter ⚠
- p.Ile861Thr Single submitter ⚠
- p.Ile872Thr Single submitter ⚠
- p.Leu1014Phe Single submitter ⚠
- p.Leu1053Val Single submitter ⚠
- p.Leu1098Pro Single submitter ⚠
- p.Leu1264Phe Single submitter ⚠
- p.Leu137Ile Single submitter ⚠
- p.Leu224Val Single submitter ⚠
- p.Leu248Pro Single submitter ⚠
- p.Leu263Pro Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu360Phe Single submitter ⚠
- p.Leu392Ile Single submitter ⚠
- p.Leu43Ser Single submitter ⚠
- p.Leu448Phe Single submitter ⚠
- p.Leu521Phe Single submitter ⚠
- p.Leu542Phe Single submitter ⚠
- p.Leu584Pro Single submitter ⚠
- p.Leu690Val Single submitter ⚠
- p.Leu800Val Single submitter ⚠
- p.Lys1073Arg Single submitter ⚠
- p.Lys1238Thr Single submitter ⚠
- p.Lys1295Glu Single submitter ⚠
- p.Lys154Glu Single submitter ⚠
- p.Lys325Ile Single submitter ⚠
- p.Lys397Arg Single submitter ⚠
- p.Lys397Asn Single submitter ⚠
- p.Lys512Glu Single submitter ⚠
- p.Lys707Asn Single submitter ⚠
- p.Lys841Arg Single submitter ⚠
- p.Lys878Glu Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Met1033Thr Single submitter ⚠
- p.Met1033Val Single submitter ⚠
- p.Met1109Thr Single submitter ⚠
- p.Met1229Thr Single submitter ⚠
- p.Met361Val Single submitter ⚠
- p.Met546Leu Single submitter ⚠
- p.Met546Thr Single submitter ⚠
- p.Met648Thr Single submitter ⚠
- p.Met998Lys Single submitter ⚠
- p.Phe103Cys Single submitter ⚠
- p.Pro48Ala Single submitter ⚠
- p.Ser1169Phe Single submitter ⚠
- p.Ser1242Phe Single submitter ⚠
- p.Ser388Thr Single submitter ⚠
- p.Ser442Leu Single submitter ⚠
- p.Ser45Arg Single submitter ⚠
- p.Ser477Arg Single submitter ⚠
- p.Ser480Ile Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser49Asn Single submitter ⚠
- p.Ser61Pro Single submitter ⚠
- p.Ser697Gly Single submitter ⚠
- p.Ser731Ala Single submitter ⚠
- p.Ser903Pro Single submitter ⚠
- p.Ser932Arg Single submitter ⚠
- p.Thr1270Ala Single submitter ⚠
- p.Thr473Ile Single submitter ⚠
- p.Thr523Ile Single submitter ⚠
- p.Thr523Pro Single submitter ⚠
- p.Thr621Ala Single submitter ⚠
- p.Thr625Ala Single submitter ⚠
- p.Thr695Lys Single submitter ⚠
- p.Thr695Met Single submitter ⚠
- p.Thr792Ile Single submitter ⚠
- p.Thr866Ala Single submitter ⚠
- p.Tyr243Cys Single submitter ⚠
- p.Tyr418Cys Single submitter ⚠
- p.Tyr8Cys Single submitter ⚠
- p.Tyr983His Single submitter ⚠
- p.Val1284Ala Single submitter ⚠
- p.Val1284Leu Single submitter ⚠
- p.Val182Ile Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val68Ile Single submitter ⚠
- p.Val741Leu Single submitter ⚠
- p.Val821Met Single submitter ⚠
- p.Val946Ile Single submitter ⚠