CCDC136 — 178 ClinVar variants
All ClinVar germline CCDC136 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →
7 Benign · 15 Likely benign · 156 Uncertain significance
Full CCDC136 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 158
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 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC136 p.Ala862Val Uncertain significance Single submitter
- CCDC136 p.Ala886Val Uncertain significance Single submitter
- CCDC136 p.Ala914Val Uncertain significance Single submitter
- CCDC136 p.Ala978Pro Uncertain significance Single submitter
- CCDC136 p.Arg177Gln Uncertain significance Single submitter
- CCDC136 p.Arg200Cys Uncertain significance Single submitter
- CCDC136 p.Arg304Gln Uncertain significance Single submitter
- CCDC136 p.Arg331Cys Uncertain significance Single submitter
- CCDC136 p.Arg400Gln Uncertain significance Single submitter
- CCDC136 p.Arg497Gln Uncertain significance Single submitter
- CCDC136 p.Arg62Gln Uncertain significance Single submitter
- CCDC136 p.Arg647Gln Uncertain significance Single submitter
- CCDC136 p.Arg713Gln Uncertain significance Single submitter
- CCDC136 p.Arg76Gln Uncertain significance Single submitter
- CCDC136 p.Arg848Ser Uncertain significance Single submitter
- CCDC136 p.Asn431His Uncertain significance Single submitter
- CCDC136 p.Asn534Ser Uncertain significance Single submitter
- CCDC136 p.Asn982Lys Uncertain significance Single submitter
- CCDC136 p.Asp1100Gly Uncertain significance Single submitter
- CCDC136 p.Asp662Asn Uncertain significance Single submitter
- CCDC136 p.Asp662Gly Uncertain significance Single submitter
- CCDC136 p.Asp890Tyr Uncertain significance Single submitter
- CCDC136 p.Asp918Asn Uncertain significance Single submitter
- CCDC136 p.Cys372Tyr Uncertain significance Single submitter
- CCDC136 p.Cys532Phe Uncertain significance Single submitter
- CCDC136 p.Cys532Tyr Uncertain significance Single submitter
- CCDC136 p.Cys898Tyr Uncertain significance Single submitter
- CCDC136 p.Gln253Lys Uncertain significance Single submitter
- CCDC136 p.Gln64Arg Uncertain significance Single submitter
- CCDC136 p.Glu1018Gly Uncertain significance Single submitter
- CCDC136 p.Glu1109Lys Uncertain significance Single submitter
- CCDC136 p.Glu1118Gln Uncertain significance Single submitter
- CCDC136 p.Glu135Ala Uncertain significance Single submitter
- CCDC136 p.Glu140Lys Uncertain significance Single submitter
- CCDC136 p.Glu158Asp Uncertain significance Single submitter
- CCDC136 p.Glu225Val Uncertain significance Single submitter
- CCDC136 p.Glu319Lys Uncertain significance Single submitter
- CCDC136 p.Glu469Asp Uncertain significance Single submitter
- CCDC136 p.Glu609Asp Uncertain significance Single submitter
- CCDC136 p.Glu651Asp Uncertain significance Single submitter
- CCDC136 p.Glu893Asp Uncertain significance Single submitter
- CCDC136 p.Glu904Asp Uncertain significance Single submitter
- CCDC136 p.Gly1059Ala Uncertain significance Single submitter
- CCDC136 p.Gly980Ala Uncertain significance Single submitter
- CCDC136 p.Gly993Ala Uncertain significance Single submitter
- CCDC136 p.Leu605Arg Uncertain significance Single submitter
- CCDC136 p.Leu611Arg Uncertain significance Single submitter
- CCDC136 p.Leu66Val Uncertain significance Single submitter
- CCDC136 p.Leu724Met Uncertain significance Single submitter
- CCDC136 p.Leu741Phe Uncertain significance Single submitter
- CCDC136 p.Lys1120Gln Uncertain significance Single submitter
- CCDC136 p.Lys376Arg Uncertain significance Single submitter
- CCDC136 p.Lys468Glu Uncertain significance Single submitter
- CCDC136 p.Lys485Arg Uncertain significance Single submitter
- CCDC136 p.Lys555Thr Uncertain significance Single submitter
- CCDC136 p.Met1043Leu Uncertain significance Single submitter
- CCDC136 p.Met277Val Uncertain significance Single submitter
- CCDC136 p.Met287Thr Uncertain significance Single submitter
- CCDC136 p.Met501Val Uncertain significance Single submitter
- CCDC136 p.Met682Arg Uncertain significance Single submitter
- CCDC136 p.Met682Thr Uncertain significance Single submitter
- CCDC136 p.Met682Val Uncertain significance Single submitter
- CCDC136 p.Met739Ile Uncertain significance Single submitter
- CCDC136 p.Met846Val Uncertain significance Single submitter
- CCDC136 p.Phe467Tyr Uncertain significance Single submitter
- CCDC136 p.Pro1066Gln Uncertain significance Single submitter
- CCDC136 p.Pro1069Ala Uncertain significance Single submitter
- CCDC136 p.Pro1124Leu Uncertain significance Single submitter
- CCDC136 p.Pro1128Leu Uncertain significance Single submitter
- CCDC136 p.Pro1128Thr Uncertain significance Single submitter
- CCDC136 p.Pro292Ser Uncertain significance Single submitter
- CCDC136 p.Pro591Gln Uncertain significance Single submitter
- CCDC136 p.Pro972Ala Uncertain significance Single submitter
- CCDC136 p.Ser39Gly Uncertain significance Single submitter
- CCDC136 p.Ser678Phe Uncertain significance Single submitter
- CCDC136 p.Ser797Asn Uncertain significance Single submitter
- CCDC136 p.Thr251Met Uncertain significance Single submitter
- CCDC136 p.Val1020Ala Uncertain significance Single submitter
- CCDC136 p.Val1063Leu Uncertain significance Single submitter
- CCDC136 p.Val27Glu Uncertain significance Single submitter
- CCDC136 p.Val34Met Uncertain significance Single submitter
- CCDC136 p.Val732Ile Uncertain significance Single submitter
- CCDC136 p.Val832Ile Uncertain significance Single submitter
- CCDC136 p.Val949Leu Uncertain significance Single submitter
- CCDC136 p.Val999Leu Uncertain significance Single submitter
Predictors split 73
The independent predictors disagree with each other — read with care.
- CCDC136 p.Asp218His Benign Multiple submitters
- CCDC136 p.Glu1097Gly Likely benign Multiple submitters
- CCDC136 p.Arg122Trp Uncertain significance Single submitter
- CCDC136 p.Arg154Trp Uncertain significance Single submitter
- CCDC136 p.Arg187Cys Uncertain significance Single submitter
- CCDC136 p.Arg189Trp Uncertain significance Single submitter
- CCDC136 p.Arg230Trp Uncertain significance Single submitter
- CCDC136 p.Arg232Cys Uncertain significance Single submitter
- CCDC136 p.Arg241Trp Uncertain significance Single submitter
- CCDC136 p.Arg304Trp Uncertain significance Single submitter
- CCDC136 p.Arg340Trp Uncertain significance Single submitter
- CCDC136 p.Arg421Trp Uncertain significance Single submitter
- CCDC136 p.Arg648Cys Uncertain significance Single submitter
- CCDC136 p.Arg930Trp Uncertain significance Single submitter
- CCDC136 p.Arg965Cys Uncertain significance Single submitter
- CCDC136 p.Arg979Trp Uncertain significance Single submitter
- CCDC136 p.Asp1102Asn Uncertain significance Single submitter
- CCDC136 p.Asp174Tyr Uncertain significance Single submitter
- CCDC136 p.Asp184Asn Uncertain significance Single submitter
- CCDC136 p.Cys960Phe Uncertain significance Single submitter
- CCDC136 p.Gln1049His Uncertain significance Single submitter
- CCDC136 p.Gln349Arg Uncertain significance Single submitter
- CCDC136 p.Gln428Arg Uncertain significance Single submitter
- CCDC136 p.Gln547His Uncertain significance Single submitter
- CCDC136 p.Gln861His Uncertain significance Single submitter
- CCDC136 p.Gln868Pro Uncertain significance Single submitter
- CCDC136 p.Glu1036Val Uncertain significance Single submitter
- CCDC136 p.Glu1046Gly Uncertain significance Single submitter
- CCDC136 p.Glu1053Lys Uncertain significance Single submitter
- CCDC136 p.Glu1110Gly Uncertain significance Single submitter
- CCDC136 p.Glu20Gln Uncertain significance Single submitter
- CCDC136 p.Glu31Ala Uncertain significance Single submitter
- CCDC136 p.Glu472Gly Uncertain significance Single submitter
- CCDC136 p.Glu494Lys Uncertain significance Single submitter
- CCDC136 p.Glu577Ala Uncertain significance Single submitter
- CCDC136 p.Glu577Lys Uncertain significance Single submitter
- CCDC136 p.Glu584Lys Uncertain significance Single submitter
- CCDC136 p.Glu624Gly Uncertain significance Single submitter
- CCDC136 p.Glu705Ala Uncertain significance Single submitter
- CCDC136 p.Glu844Lys Uncertain significance Single submitter
- CCDC136 p.Gly50Glu Uncertain significance Single submitter
- CCDC136 p.His429Gln Uncertain significance Single submitter
- CCDC136 p.Ile922Thr Uncertain significance Single submitter
- CCDC136 p.Leu1105His Uncertain significance Single submitter
- CCDC136 p.Leu1145Phe Uncertain significance Single submitter
- CCDC136 p.Leu136Phe Uncertain significance Single submitter
- CCDC136 p.Leu13Val Uncertain significance Single submitter
- CCDC136 p.Leu182Phe Uncertain significance Single submitter
- CCDC136 p.Leu222Ile Uncertain significance Single submitter
- CCDC136 p.Leu519Phe Uncertain significance Single submitter
- CCDC136 p.Leu519Pro Uncertain significance Single submitter
- CCDC136 p.Leu567Pro Uncertain significance Single submitter
- CCDC136 p.Leu588Phe Uncertain significance Single submitter
- CCDC136 p.Leu597Pro Uncertain significance Single submitter
- CCDC136 p.Leu608Ser Uncertain significance Single submitter
- CCDC136 p.Lys714Met Uncertain significance Single submitter
- CCDC136 p.Lys774Met Uncertain significance Single submitter
- CCDC136 p.Met185Arg Uncertain significance Single submitter
- CCDC136 p.Met621Ile Uncertain significance Single submitter
- CCDC136 p.Met866Val Uncertain significance Single submitter
- CCDC136 p.Ser1009Arg Uncertain significance Single submitter
- CCDC136 p.Ser246Gly Uncertain significance Single submitter
- CCDC136 p.Ser249Gly Uncertain significance Single submitter
- CCDC136 p.Ser334Asn Uncertain significance Single submitter
- CCDC136 p.Ser360Asn Uncertain significance Single submitter
- CCDC136 p.Ser407Cys Uncertain significance Single submitter
- CCDC136 p.Ser601Arg Uncertain significance Single submitter
- CCDC136 p.Ser771Arg Uncertain significance Single submitter
- CCDC136 p.Ser771Asn Uncertain significance Single submitter
- CCDC136 p.Ser775Thr Uncertain significance Single submitter
- CCDC136 p.Ser783Gly Uncertain significance Single submitter
- CCDC136 p.Ser811Cys Uncertain significance Single submitter
- CCDC136 p.Tyr762His Uncertain significance Single submitter
All CCDC136 variants
Benign 7
- p.Ala687= Multiple submitters
- p.Asp218His Multiple submitters ⚠
- p.Glu1087= Multiple submitters
- p.Gly221= Multiple submitters
- p.Gly980Arg Multiple submitters
- p.Leu616= Multiple submitters
- p.Val432Ile Multiple submitters
Likely benign 15
- p.Glu1097Gly Multiple submitters ⚠
- p.Ala197Thr Single submitter
- p.Arg848His Single submitter
- p.Arg900Lys Single submitter
- p.Asn386= Single submitter
- p.Asn471Ser Single submitter
- p.Glu951= Single submitter
- p.Gly10= Single submitter
- p.Gly212Ser Single submitter
- p.Gly745Arg Single submitter
- p.His459Arg Single submitter
- p.Ile812Val Single submitter
- p.Ser1004Leu Single submitter
- p.Ser1009= Single submitter
- p.Thr477Met Single submitter
Uncertain significance 156
- p.Ala862Val Single submitter ⚠
- p.Ala886Val Single submitter ⚠
- p.Ala914Val Single submitter ⚠
- p.Ala978Pro Single submitter ⚠
- p.Arg122Trp Single submitter ⚠
- p.Arg154Trp Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg187Cys Single submitter ⚠
- p.Arg189Trp Single submitter ⚠
- p.Arg200Cys Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg241Trp Single submitter ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg304Trp Single submitter ⚠
- p.Arg331Cys Single submitter ⚠
- p.Arg340Trp Single submitter ⚠
- p.Arg400Gln Single submitter ⚠
- p.Arg421Trp Single submitter ⚠
- p.Arg497Gln Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg647Gln Single submitter ⚠
- p.Arg648Cys Single submitter ⚠
- p.Arg713Gln Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg848Ser Single submitter ⚠
- p.Arg930Trp Single submitter ⚠
- p.Arg965Cys Single submitter ⚠
- p.Arg979Trp Single submitter ⚠
- p.Asn431His Single submitter ⚠
- p.Asn534Ser Single submitter ⚠
- p.Asn982Lys Single submitter ⚠
- p.Asp1100Gly Single submitter ⚠
- p.Asp1102Asn Single submitter ⚠
- p.Asp174Tyr Single submitter ⚠
- p.Asp184Asn Single submitter ⚠
- p.Asp662Asn Single submitter ⚠
- p.Asp662Gly Single submitter ⚠
- p.Asp890Tyr Single submitter ⚠
- p.Asp918Asn Single submitter ⚠
- p.Cys372Tyr Single submitter ⚠
- p.Cys532Phe Single submitter ⚠
- p.Cys532Tyr Single submitter ⚠
- p.Cys898Tyr Single submitter ⚠
- p.Cys960Phe Single submitter ⚠
- p.Gln1049His Single submitter ⚠
- p.Gln253Lys Single submitter ⚠
- p.Gln349Arg Single submitter ⚠
- p.Gln428Arg Single submitter ⚠
- p.Gln547His Single submitter ⚠
- p.Gln64Arg Single submitter ⚠
- p.Gln861His Single submitter ⚠
- p.Gln868Pro Single submitter ⚠
- p.Glu1018Gly Single submitter ⚠
- p.Glu1036Val Single submitter ⚠
- p.Glu1046Gly Single submitter ⚠
- p.Glu1053Lys Single submitter ⚠
- p.Glu1109Lys Single submitter ⚠
- p.Glu1110Gly Single submitter ⚠
- p.Glu1118Gln Single submitter ⚠
- p.Glu135Ala Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu158Asp Single submitter ⚠
- p.Glu20Gln Single submitter ⚠
- p.Glu225Val Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Glu31Ala Single submitter ⚠
- p.Glu469Asp Single submitter ⚠
- p.Glu472Gly Single submitter ⚠
- p.Glu494Lys Single submitter ⚠
- p.Glu577Ala Single submitter ⚠
- p.Glu577Lys Single submitter ⚠
- p.Glu584Lys Single submitter ⚠
- p.Glu609Asp Single submitter ⚠
- p.Glu624Gly Single submitter ⚠
- p.Glu651Asp Single submitter ⚠
- p.Glu705Ala Single submitter ⚠
- p.Glu844Lys Single submitter ⚠
- p.Glu893Asp Single submitter ⚠
- p.Glu904Asp Single submitter ⚠
- p.Gly1059Ala Single submitter ⚠
- p.Gly50Glu Single submitter ⚠
- p.Gly980Ala Single submitter ⚠
- p.Gly993Ala Single submitter ⚠
- p.His429Gln Single submitter ⚠
- p.Ile922Thr Single submitter ⚠
- p.Leu1105His Single submitter ⚠
- p.Leu1145Phe Single submitter ⚠
- p.Leu136Phe Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu182Phe Single submitter ⚠
- p.Leu222Ile Single submitter ⚠
- p.Leu519Phe Single submitter ⚠
- p.Leu519Pro Single submitter ⚠
- p.Leu567Pro Single submitter ⚠
- p.Leu588Phe Single submitter ⚠
- p.Leu597Pro Single submitter ⚠
- p.Leu605Arg Single submitter ⚠
- p.Leu608Ser Single submitter ⚠
- p.Leu611Arg Single submitter ⚠
- p.Leu66Val Single submitter ⚠
- p.Leu724Met Single submitter ⚠
- p.Leu741Phe Single submitter ⚠
- p.Lys1120Gln Single submitter ⚠
- p.Lys376Arg Single submitter ⚠
- p.Lys468Glu Single submitter ⚠
- p.Lys485Arg Single submitter ⚠
- p.Lys555Thr Single submitter ⚠
- p.Lys714Met Single submitter ⚠
- p.Lys774Met Single submitter ⚠
- p.Met1043Leu Single submitter ⚠
- p.Met185Arg Single submitter ⚠
- p.Met277Val Single submitter ⚠
- p.Met287Thr Single submitter ⚠
- p.Met501Val Single submitter ⚠
- p.Met621Ile Single submitter ⚠
- p.Met682Arg Single submitter ⚠
- p.Met682Thr Single submitter ⚠
- p.Met682Val Single submitter ⚠
- p.Met739Ile Single submitter ⚠
- p.Met846Val Single submitter ⚠
- p.Met866Val Single submitter ⚠
- p.Phe467Tyr Single submitter ⚠
- p.Pro1066Gln Single submitter ⚠
- p.Pro1069Ala Single submitter ⚠
- p.Pro1124Leu Single submitter ⚠
- p.Pro1128Leu Single submitter ⚠
- p.Pro1128Thr Single submitter ⚠
- p.Pro292Ser Single submitter ⚠
- p.Pro591Gln Single submitter ⚠
- p.Pro972Ala Single submitter ⚠
- p.Ser1009Arg Single submitter ⚠
- p.Ser246Gly Single submitter ⚠
- p.Ser249Gly Single submitter ⚠
- p.Ser334Asn Single submitter ⚠
- p.Ser360Asn Single submitter ⚠
- p.Ser39Gly Single submitter ⚠
- p.Ser407Cys Single submitter ⚠
- p.Ser601Arg Single submitter ⚠
- p.Ser678Phe Single submitter ⚠
- p.Ser771Arg Single submitter ⚠
- p.Ser771Asn Single submitter ⚠
- p.Ser775Thr Single submitter ⚠
- p.Ser783Gly Single submitter ⚠
- p.Ser797Asn Single submitter ⚠
- p.Ser811Cys Single submitter ⚠
- p.Thr251Met Single submitter ⚠
- p.Tyr762His Single submitter ⚠
- p.Val1020Ala Single submitter ⚠
- p.Val1063Leu Single submitter ⚠
- p.Val27Glu Single submitter ⚠
- p.Val34Met Single submitter ⚠
- p.Val732Ile Single submitter ⚠
- p.Val832Ile Single submitter ⚠
- p.Val949Leu Single submitter ⚠
- p.Val999Leu Single submitter ⚠