CCDC138 — 100 ClinVar variants
All ClinVar germline CCDC138 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
5 Likely benign · 95 Uncertain significance
Full CCDC138 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC138 p.Ala133Val Uncertain significance Single submitter
- CCDC138 p.Ala166Thr Uncertain significance Single submitter
- CCDC138 p.Ala340Thr Uncertain significance Single submitter
- CCDC138 p.Ala482Thr Uncertain significance Single submitter
- CCDC138 p.Ala663Thr Uncertain significance Single submitter
- CCDC138 p.Arg142Ser Uncertain significance Single submitter
- CCDC138 p.Arg210His Uncertain significance Single submitter
- CCDC138 p.Arg210Leu Uncertain significance Single submitter
- CCDC138 p.Arg269Lys Uncertain significance Single submitter
- CCDC138 p.Arg321Ser Uncertain significance Single submitter
- CCDC138 p.Arg451Ile Uncertain significance Single submitter
- CCDC138 p.Arg581Cys Uncertain significance Single submitter
- CCDC138 p.Arg588Gln Uncertain significance Single submitter
- CCDC138 p.Asn137Asp Uncertain significance Single submitter
- CCDC138 p.Asp113Gly Uncertain significance Single submitter
- CCDC138 p.Asp363Gly Uncertain significance Single submitter
- CCDC138 p.Asp52Glu Uncertain significance Single submitter
- CCDC138 p.Asp54Glu Uncertain significance Single submitter
- CCDC138 p.Asp54Val Uncertain significance Single submitter
- CCDC138 p.Asp59Val Uncertain significance Single submitter
- CCDC138 p.Asp69Glu Uncertain significance Single submitter
- CCDC138 p.Cys400Arg Uncertain significance Single submitter
- CCDC138 p.Gln103Lys Uncertain significance Single submitter
- CCDC138 p.Gln206Lys Uncertain significance Single submitter
- CCDC138 p.Gln217Arg Uncertain significance Single submitter
- CCDC138 p.Gln466His Uncertain significance Single submitter
- CCDC138 p.Glu146Gln Uncertain significance Single submitter
- CCDC138 p.Glu204Lys Uncertain significance Single submitter
- CCDC138 p.Glu256Lys Uncertain significance Single submitter
- CCDC138 p.Glu338Ala Uncertain significance Single submitter
- CCDC138 p.Glu377Ala Uncertain significance Single submitter
- CCDC138 p.Glu475Ala Uncertain significance Single submitter
- CCDC138 p.Glu523Gln Uncertain significance Single submitter
- CCDC138 p.Glu93Ala Uncertain significance Single submitter
- CCDC138 p.Gly231Val Uncertain significance Single submitter
- CCDC138 p.Gly352Glu Uncertain significance Single submitter
- CCDC138 p.Gly352Val Uncertain significance Single submitter
- CCDC138 p.Gly453Asp Uncertain significance Single submitter
- CCDC138 p.Gly453Ser Uncertain significance Single submitter
- CCDC138 p.His327Arg Uncertain significance Single submitter
- CCDC138 p.His73Leu Uncertain significance Single submitter
- CCDC138 p.Ile296Val Uncertain significance Single submitter
- CCDC138 p.Ile365Val Uncertain significance Single submitter
- CCDC138 p.Leu549Arg Uncertain significance Single submitter
- CCDC138 p.Leu586Val Uncertain significance Single submitter
- CCDC138 p.Lys244Arg Uncertain significance Single submitter
- CCDC138 p.Lys501Arg Uncertain significance Single submitter
- CCDC138 p.Lys72Glu Uncertain significance Single submitter
- CCDC138 p.Met362Leu Uncertain significance Single submitter
- CCDC138 p.Met380Ile Uncertain significance Single submitter
- CCDC138 p.Phe97Leu Uncertain significance Single submitter
- CCDC138 p.Pro341Ser Uncertain significance Single submitter
- CCDC138 p.Pro385Thr Uncertain significance Single submitter
- CCDC138 p.Pro50Leu Uncertain significance Single submitter
- CCDC138 p.Ser17Asn Uncertain significance Single submitter
- CCDC138 p.Ser27Arg Uncertain significance Single submitter
- CCDC138 p.Ser473Pro Uncertain significance Single submitter
- CCDC138 p.Ser584Pro Uncertain significance Single submitter
- CCDC138 p.Ser601Thr Uncertain significance Single submitter
- CCDC138 p.Ser80Arg Uncertain significance Single submitter
- CCDC138 p.Thr139Ser Uncertain significance Single submitter
- CCDC138 p.Thr238Lys Uncertain significance Single submitter
- CCDC138 p.Thr238Ser Uncertain significance Single submitter
- CCDC138 p.Thr462Ala Uncertain significance Single submitter
- CCDC138 p.Val116Leu Uncertain significance Single submitter
- CCDC138 p.Val236Phe Uncertain significance Single submitter
- CCDC138 p.Val348Ala Uncertain significance Single submitter
- CCDC138 p.Val535Asp Uncertain significance Single submitter
- CCDC138 p.Val5Leu Uncertain significance Single submitter
- CCDC138 p.Val85Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CCDC138 p.Arg144Trp Likely benign Single submitter
- CCDC138 p.Arg170Trp Uncertain significance Single submitter
- CCDC138 p.Arg4Met Uncertain significance Single submitter
- CCDC138 p.Arg631Thr Uncertain significance Single submitter
- CCDC138 p.Asn650Ser Uncertain significance Single submitter
- CCDC138 p.Asp248Gly Uncertain significance Single submitter
- CCDC138 p.Cys583Ser Uncertain significance Single submitter
- CCDC138 p.Glu183Lys Uncertain significance Single submitter
- CCDC138 p.Glu203Lys Uncertain significance Single submitter
- CCDC138 p.Glu291Gln Uncertain significance Single submitter
- CCDC138 p.Gly25Trp Uncertain significance Single submitter
- CCDC138 p.His222Arg Uncertain significance Single submitter
- CCDC138 p.His222Leu Uncertain significance Single submitter
- CCDC138 p.His623Arg Uncertain significance Single submitter
- CCDC138 p.Leu173Phe Uncertain significance Single submitter
- CCDC138 p.Leu549Phe Uncertain significance Single submitter
- CCDC138 p.Leu592Phe Uncertain significance Single submitter
- CCDC138 p.Lys228Thr Uncertain significance Single submitter
- CCDC138 p.Lys244Glu Uncertain significance Single submitter
- CCDC138 p.Lys7Asn Uncertain significance Single submitter
- CCDC138 p.Phe620Leu Uncertain significance Single submitter
- CCDC138 p.Ser515Phe Uncertain significance Single submitter
- CCDC138 p.Thr522Ile Uncertain significance Single submitter
- CCDC138 p.Thr561Met Uncertain significance Single submitter
- CCDC138 p.Thr582Asn Uncertain significance Single submitter
- CCDC138 p.Tyr32Cys Uncertain significance Single submitter
All CCDC138 variants
Likely benign 5
- p.Ala440Thr Single submitter
- p.Arg144Trp Single submitter ⚠
- p.Ser119= Single submitter
- p.Thr139Ala Single submitter
- p.Tyr42Cys Single submitter
Uncertain significance 95
- p.Ala133Val Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala340Thr Single submitter ⚠
- p.Ala482Thr Single submitter ⚠
- p.Ala663Thr Single submitter ⚠
- p.Arg142Ser Single submitter ⚠
- p.Arg170Trp Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg210Leu Single submitter ⚠
- p.Arg269Lys Single submitter ⚠
- p.Arg321Ser Single submitter ⚠
- p.Arg451Ile Single submitter ⚠
- p.Arg4Met Single submitter ⚠
- p.Arg581Cys Single submitter ⚠
- p.Arg588Gln Single submitter ⚠
- p.Arg631Thr Single submitter ⚠
- p.Asn137Asp Single submitter ⚠
- p.Asn650Ser Single submitter ⚠
- p.Asp113Gly Single submitter ⚠
- p.Asp248Gly Single submitter ⚠
- p.Asp363Gly Single submitter ⚠
- p.Asp52Glu Single submitter ⚠
- p.Asp54Glu Single submitter ⚠
- p.Asp54Val Single submitter ⚠
- p.Asp59Val Single submitter ⚠
- p.Asp69Glu Single submitter ⚠
- p.Cys400Arg Single submitter ⚠
- p.Cys583Ser Single submitter ⚠
- p.Gln103Lys Single submitter ⚠
- p.Gln206Lys Single submitter ⚠
- p.Gln217Arg Single submitter ⚠
- p.Gln466His Single submitter ⚠
- p.Glu146Gln Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu203Lys Single submitter ⚠
- p.Glu204Lys Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu291Gln Single submitter ⚠
- p.Glu338Ala Single submitter ⚠
- p.Glu377Ala Single submitter ⚠
- p.Glu475Ala Single submitter ⚠
- p.Glu523Gln Single submitter ⚠
- p.Glu93Ala Single submitter ⚠
- p.Gly231Val Single submitter ⚠
- p.Gly25Trp Single submitter ⚠
- p.Gly352Glu Single submitter ⚠
- p.Gly352Val Single submitter ⚠
- p.Gly453Asp Single submitter ⚠
- p.Gly453Ser Single submitter ⚠
- p.His222Arg Single submitter ⚠
- p.His222Leu Single submitter ⚠
- p.His327Arg Single submitter ⚠
- p.His623Arg Single submitter ⚠
- p.His73Leu Single submitter ⚠
- p.Ile296Val Single submitter ⚠
- p.Ile365Val Single submitter ⚠
- p.Leu173Phe Single submitter ⚠
- p.Leu549Arg Single submitter ⚠
- p.Leu549Phe Single submitter ⚠
- p.Leu586Val Single submitter ⚠
- p.Leu592Phe Single submitter ⚠
- p.Lys228Thr Single submitter ⚠
- p.Lys244Arg Single submitter ⚠
- p.Lys244Glu Single submitter ⚠
- p.Lys501Arg Single submitter ⚠
- p.Lys72Glu Single submitter ⚠
- p.Lys7Asn Single submitter ⚠
- p.Met362Leu Single submitter ⚠
- p.Met380Ile Single submitter ⚠
- p.Phe620Leu Single submitter ⚠
- p.Phe97Leu Single submitter ⚠
- p.Pro341Ser Single submitter ⚠
- p.Pro385Thr Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Ser17Asn Single submitter ⚠
- p.Ser27Arg Single submitter ⚠
- p.Ser473Pro Single submitter ⚠
- p.Ser515Phe Single submitter ⚠
- p.Ser584Pro Single submitter ⚠
- p.Ser601Thr Single submitter ⚠
- p.Ser80Arg Single submitter ⚠
- p.Thr139Ser Single submitter ⚠
- p.Thr238Lys Single submitter ⚠
- p.Thr238Ser Single submitter ⚠
- p.Thr462Ala Single submitter ⚠
- p.Thr522Ile Single submitter ⚠
- p.Thr561Met Single submitter ⚠
- p.Thr582Asn Single submitter ⚠
- p.Tyr32Cys Single submitter ⚠
- p.Val116Leu Single submitter ⚠
- p.Val236Phe Single submitter ⚠
- p.Val348Ala Single submitter ⚠
- p.Val535Asp Single submitter ⚠
- p.Val5Leu Single submitter ⚠
- p.Val85Ile Single submitter ⚠