CCDC142 — 118 ClinVar variants
All ClinVar germline CCDC142 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
7 Likely benign · 111 Uncertain significance
Full CCDC142 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC142 p.Ala226Val Uncertain significance Single submitter
- CCDC142 p.Ala227Thr Uncertain significance Single submitter
- CCDC142 p.Ala419Thr Uncertain significance Single submitter
- CCDC142 p.Ala72Thr Uncertain significance Single submitter
- CCDC142 p.Ala72Val Uncertain significance Single submitter
- CCDC142 p.Arg169His Uncertain significance Single submitter
- CCDC142 p.Arg234His Uncertain significance Single submitter
- CCDC142 p.Arg234Pro Uncertain significance Single submitter
- CCDC142 p.Arg40Cys Uncertain significance Single submitter
- CCDC142 p.Arg413Gly Uncertain significance Single submitter
- CCDC142 p.Arg76Trp Uncertain significance Single submitter
- CCDC142 p.Cys111Gly Uncertain significance Single submitter
- CCDC142 p.Cys45Phe Uncertain significance Single submitter
- CCDC142 p.Cys538Arg Uncertain significance Single submitter
- CCDC142 p.Gln185Arg Uncertain significance Single submitter
- CCDC142 p.Gln459Arg Uncertain significance Single submitter
- CCDC142 p.Glu29Val Uncertain significance Single submitter
- CCDC142 p.Glu540Val Uncertain significance Single submitter
- CCDC142 p.Glu615Gly Uncertain significance Single submitter
- CCDC142 p.Glu618Lys Uncertain significance Single submitter
- CCDC142 p.Glu749Gly Uncertain significance Single submitter
- CCDC142 p.Gly151Glu Uncertain significance Single submitter
- CCDC142 p.Gly244Ser Uncertain significance Single submitter
- CCDC142 p.Gly24Arg Uncertain significance Single submitter
- CCDC142 p.Gly27Arg Uncertain significance Single submitter
- CCDC142 p.Gly296Arg Uncertain significance Single submitter
- CCDC142 p.Gly339Asp Uncertain significance Single submitter
- CCDC142 p.Gly37Ala Uncertain significance Single submitter
- CCDC142 p.Gly550Ser Uncertain significance Single submitter
- CCDC142 p.Ile171Thr Uncertain significance Single submitter
- CCDC142 p.Ile182Met Uncertain significance Single submitter
- CCDC142 p.Ile414Val Uncertain significance Single submitter
- CCDC142 p.Leu334Pro Uncertain significance Single submitter
- CCDC142 p.Leu385Arg Uncertain significance Single submitter
- CCDC142 p.Leu588Val Uncertain significance Single submitter
- CCDC142 p.Lys123Gln Uncertain significance Single submitter
- CCDC142 p.Lys460Arg Uncertain significance Single submitter
- CCDC142 p.Met122Ile Uncertain significance Single submitter
- CCDC142 p.Met520Leu Uncertain significance Single submitter
- CCDC142 p.Pro127Thr Uncertain significance Single submitter
- CCDC142 p.Pro130Gln Uncertain significance Single submitter
- CCDC142 p.Pro138Ser Uncertain significance Single submitter
- CCDC142 p.Pro148Ser Uncertain significance Single submitter
- CCDC142 p.Pro17Ser Uncertain significance Single submitter
- CCDC142 p.Pro323Ala Uncertain significance Single submitter
- CCDC142 p.Pro323Arg Uncertain significance Single submitter
- CCDC142 p.Pro323Thr Uncertain significance Single submitter
- CCDC142 p.Pro464Ser Uncertain significance Single submitter
- CCDC142 p.Pro47Arg Uncertain significance Single submitter
- CCDC142 p.Pro652Arg Uncertain significance Single submitter
- CCDC142 p.Pro697Ala Uncertain significance Single submitter
- CCDC142 p.Pro714Leu Uncertain significance Single submitter
- CCDC142 p.Ser131Ala Uncertain significance Single submitter
- CCDC142 p.Ser64Arg Uncertain significance Single submitter
- CCDC142 p.Ser742Cys Uncertain significance Single submitter
- CCDC142 p.Thr161Asn Uncertain significance Single submitter
- CCDC142 p.Thr330Arg Uncertain significance Single submitter
- CCDC142 p.Trp56Leu Uncertain significance Single submitter
- CCDC142 p.Tyr532Phe Uncertain significance Single submitter
- CCDC142 p.Val510Ile Uncertain significance Single submitter
- CCDC142 p.Val560Gly Uncertain significance Single submitter
- CCDC142 p.Val584Met Uncertain significance Single submitter
- CCDC142 p.Val613Asp Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
- CCDC142 p.Ala203Asp Uncertain significance Single submitter
- CCDC142 p.Ala300Asp Uncertain significance Single submitter
- CCDC142 p.Ala331Gly Uncertain significance Single submitter
- CCDC142 p.Ala603Gly Uncertain significance Single submitter
- CCDC142 p.Ala603Val Uncertain significance Single submitter
- CCDC142 p.Arg109Gly Uncertain significance Single submitter
- CCDC142 p.Arg243Trp Uncertain significance Single submitter
- CCDC142 p.Arg407Leu Uncertain significance Single submitter
- CCDC142 p.Arg531Gln Uncertain significance Single submitter
- CCDC142 p.Arg597Gln Uncertain significance Single submitter
- CCDC142 p.Arg597Trp Uncertain significance Single submitter
- CCDC142 p.Arg629Cys Uncertain significance Single submitter
- CCDC142 p.Arg629His Uncertain significance Single submitter
- CCDC142 p.Arg733Gln Uncertain significance Single submitter
- CCDC142 p.Arg90Ser Uncertain significance Single submitter
- CCDC142 p.Asp450Asn Uncertain significance Single submitter
- CCDC142 p.Asp450Tyr Uncertain significance Single submitter
- CCDC142 p.Cys668Tyr Uncertain significance Single submitter
- CCDC142 p.Gln570His Uncertain significance Single submitter
- CCDC142 p.Gln608Pro Uncertain significance Single submitter
- CCDC142 p.Gln651Arg Uncertain significance Single submitter
- CCDC142 p.Glu101Lys Uncertain significance Single submitter
- CCDC142 p.Glu558Asp Uncertain significance Single submitter
- CCDC142 p.Gly292Val Uncertain significance Single submitter
- CCDC142 p.Gly294Trp Uncertain significance Single submitter
- CCDC142 p.Gly296Val Uncertain significance Single submitter
- CCDC142 p.Gly563Ala Uncertain significance Single submitter
- CCDC142 p.His114Tyr Uncertain significance Single submitter
- CCDC142 p.Leu186Ile Uncertain significance Single submitter
- CCDC142 p.Leu255Phe Uncertain significance Single submitter
- CCDC142 p.Leu564Met Uncertain significance Single submitter
- CCDC142 p.Leu564Ser Uncertain significance Single submitter
- CCDC142 p.Leu649Phe Uncertain significance Single submitter
- CCDC142 p.Leu681Phe Uncertain significance Single submitter
- CCDC142 p.Phe523Leu Uncertain significance Single submitter
- CCDC142 p.Pro231Arg Uncertain significance Single submitter
- CCDC142 p.Pro327Leu Likely benign Single submitter
- CCDC142 p.Pro401Ser Uncertain significance Single submitter
- CCDC142 p.Pro559Ser Uncertain significance Single submitter
- CCDC142 p.Pro652Thr Uncertain significance Single submitter
- CCDC142 p.Pro739Leu Uncertain significance Single submitter
- CCDC142 p.Pro739Thr Uncertain significance Single submitter
- CCDC142 p.Ser303Asn Uncertain significance Single submitter
- CCDC142 p.Ser683Arg Uncertain significance Single submitter
- CCDC142 p.Ser683Ile Uncertain significance Single submitter
- CCDC142 p.Ser696Tyr Uncertain significance Single submitter
- CCDC142 p.Thr232Lys Uncertain significance Single submitter
- CCDC142 p.Thr50Ile Uncertain significance Single submitter
- CCDC142 p.Thr674Met Likely benign Single submitter
- CCDC142 p.Thr695Ile Uncertain significance Single submitter
All CCDC142 variants
Likely benign 7
- p.Ala352= Single submitter
- p.Arg407Gln Single submitter
- p.Leu319= Single submitter
- p.Met634Thr Single submitter
- p.Pro327Leu Single submitter ⚠
- p.Ser366Asn Single submitter
- p.Thr674Met Single submitter ⚠
Uncertain significance 111
- p.Ala203Asp Single submitter ⚠
- p.Ala226Val Single submitter ⚠
- p.Ala227Thr Single submitter ⚠
- p.Ala300Asp Single submitter ⚠
- p.Ala331Gly Single submitter ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala603Gly Single submitter ⚠
- p.Ala603Val Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Arg234Pro Single submitter ⚠
- p.Arg243Trp Single submitter ⚠
- p.Arg407Leu Single submitter ⚠
- p.Arg40Cys Single submitter ⚠
- p.Arg413Gly Single submitter ⚠
- p.Arg531Gln Single submitter ⚠
- p.Arg597Gln Single submitter ⚠
- p.Arg597Trp Single submitter ⚠
- p.Arg629Cys Single submitter ⚠
- p.Arg629His Single submitter ⚠
- p.Arg733Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Arg90Ser Single submitter ⚠
- p.Asp450Asn Single submitter ⚠
- p.Asp450Tyr Single submitter ⚠
- p.Cys111Gly Single submitter ⚠
- p.Cys45Phe Single submitter ⚠
- p.Cys538Arg Single submitter ⚠
- p.Cys668Tyr Single submitter ⚠
- p.Gln185Arg Single submitter ⚠
- p.Gln459Arg Single submitter ⚠
- p.Gln570His Single submitter ⚠
- p.Gln608Pro Single submitter ⚠
- p.Gln651Arg Single submitter ⚠
- p.Glu101Lys Single submitter ⚠
- p.Glu29Val Single submitter ⚠
- p.Glu540Val Single submitter ⚠
- p.Glu558Asp Single submitter ⚠
- p.Glu615Gly Single submitter ⚠
- p.Glu618Lys Single submitter ⚠
- p.Glu749Gly Single submitter ⚠
- p.Gly151Glu Single submitter ⚠
- p.Gly244Ser Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly292Val Single submitter ⚠
- p.Gly294Trp Single submitter ⚠
- p.Gly296Arg Single submitter ⚠
- p.Gly296Val Single submitter ⚠
- p.Gly339Asp Single submitter ⚠
- p.Gly37Ala Single submitter ⚠
- p.Gly550Ser Single submitter ⚠
- p.Gly563Ala Single submitter ⚠
- p.His114Tyr Single submitter ⚠
- p.Ile171Thr Single submitter ⚠
- p.Ile182Met Single submitter ⚠
- p.Ile414Val Single submitter ⚠
- p.Leu186Ile Single submitter ⚠
- p.Leu255Phe Single submitter ⚠
- p.Leu334Pro Single submitter ⚠
- p.Leu385Arg Single submitter ⚠
- p.Leu564Met Single submitter ⚠
- p.Leu564Ser Single submitter ⚠
- p.Leu588Val Single submitter ⚠
- p.Leu649Phe Single submitter ⚠
- p.Leu681Phe Single submitter ⚠
- p.Lys123Gln Single submitter ⚠
- p.Lys460Arg Single submitter ⚠
- p.Met122Ile Single submitter ⚠
- p.Met520Leu Single submitter ⚠
- p.Phe523Leu Single submitter ⚠
- p.Pro127Thr Single submitter ⚠
- p.Pro130Gln Single submitter ⚠
- p.Pro138Ser Single submitter ⚠
- p.Pro148Ser Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro231Arg Single submitter ⚠
- p.Pro323Ala Single submitter ⚠
- p.Pro323Arg Single submitter ⚠
- p.Pro323Thr Single submitter ⚠
- p.Pro401Ser Single submitter ⚠
- p.Pro464Ser Single submitter ⚠
- p.Pro47Arg Single submitter ⚠
- p.Pro559Ser Single submitter ⚠
- p.Pro652Arg Single submitter ⚠
- p.Pro652Thr Single submitter ⚠
- p.Pro697Ala Single submitter ⚠
- p.Pro714Leu Single submitter ⚠
- p.Pro739Leu Single submitter ⚠
- p.Pro739Thr Single submitter ⚠
- p.Ser131Ala Single submitter ⚠
- p.Ser303Asn Single submitter ⚠
- p.Ser64Arg Single submitter ⚠
- p.Ser683Arg Single submitter ⚠
- p.Ser683Ile Single submitter ⚠
- p.Ser696Tyr Single submitter ⚠
- p.Ser742Cys Single submitter ⚠
- p.Thr161Asn Single submitter ⚠
- p.Thr232Lys Single submitter ⚠
- p.Thr330Arg Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Thr695Ile Single submitter ⚠
- p.Trp56Leu Single submitter ⚠
- p.Tyr532Phe Single submitter ⚠
- p.Val510Ile Single submitter ⚠
- p.Val560Gly Single submitter ⚠
- p.Val584Met Single submitter ⚠
- p.Val613Asp Single submitter ⚠