CCNJL — 71 ClinVar variants
All ClinVar germline CCNJL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
2 Benign · 5 Likely benign · 64 Uncertain significance
Full CCNJL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCNJL p.Ala148Thr Uncertain significance Single submitter
- CCNJL p.Ala266Thr Uncertain significance Single submitter
- CCNJL p.Ala284Val Uncertain significance Single submitter
- CCNJL p.Ala292Gly Uncertain significance Single submitter
- CCNJL p.Ala292Val Uncertain significance Single submitter
- CCNJL p.Ala366Thr Uncertain significance Single submitter
- CCNJL p.Arg175Leu Uncertain significance Single submitter
- CCNJL p.Arg230Lys Uncertain significance Single submitter
- CCNJL p.Arg310Gln Uncertain significance Single submitter
- CCNJL p.Arg310Trp Uncertain significance Single submitter
- CCNJL p.Arg387Lys Uncertain significance Single submitter
- CCNJL p.Arg39His Uncertain significance Single submitter
- CCNJL p.Arg40Trp Uncertain significance Single submitter
- CCNJL p.Arg60Trp Uncertain significance Single submitter
- CCNJL p.Arg99Gln Uncertain significance Single submitter
- CCNJL p.Asp101Asn Uncertain significance Single submitter
- CCNJL p.Asp311Asn Uncertain significance Single submitter
- CCNJL p.Asp72Tyr Uncertain significance Single submitter
- CCNJL p.Gln297Arg Uncertain significance Single submitter
- CCNJL p.Glu126Val Uncertain significance Single submitter
- CCNJL p.Glu4Ala Uncertain significance Single submitter
- CCNJL p.Gly270Cys Uncertain significance Single submitter
- CCNJL p.Gly383Ala Uncertain significance Single submitter
- CCNJL p.Gly383Val Uncertain significance Single submitter
- CCNJL p.His165Gln Uncertain significance Single submitter
- CCNJL p.His167Tyr Uncertain significance Single submitter
- CCNJL p.His238Tyr Uncertain significance Single submitter
- CCNJL p.Ile45Phe Uncertain significance Single submitter
- CCNJL p.Leu135Gln Uncertain significance Single submitter
- CCNJL p.Leu193Pro Uncertain significance Single submitter
- CCNJL p.Leu247Arg Uncertain significance Single submitter
- CCNJL p.Leu265Val Uncertain significance Single submitter
- CCNJL p.Leu322Pro Uncertain significance Single submitter
- CCNJL p.Leu330Phe Uncertain significance Single submitter
- CCNJL p.Lys162Asn Uncertain significance Single submitter
- CCNJL p.Met267Val Uncertain significance Single submitter
- CCNJL p.Pro27Leu Uncertain significance Single submitter
- CCNJL p.Pro286Gln Uncertain significance Single submitter
- CCNJL p.Pro291Ala Uncertain significance Single submitter
- CCNJL p.Pro291Leu Uncertain significance Single submitter
- CCNJL p.Ser204Cys Uncertain significance Single submitter
- CCNJL p.Ser233Arg Uncertain significance Single submitter
- CCNJL p.Ser323Leu Uncertain significance Single submitter
- CCNJL p.Ser323Pro Uncertain significance Single submitter
- CCNJL p.Thr146Met Uncertain significance Single submitter
- CCNJL p.Thr241Arg Uncertain significance Single submitter
- CCNJL p.Thr274Pro Uncertain significance Single submitter
- CCNJL p.Thr367Asn Uncertain significance Single submitter
- CCNJL p.Tyr154Phe Uncertain significance Single submitter
- CCNJL p.Val253Ile Uncertain significance Single submitter
- CCNJL p.Val85Leu Uncertain significance Single submitter
- CCNJL p.Val85Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CCNJL p.Ala207Ser Uncertain significance Single submitter
- CCNJL p.Ala356Val Uncertain significance Single submitter
- CCNJL p.Arg175Cys Uncertain significance Single submitter
- CCNJL p.Arg60Gln Uncertain significance Single submitter
- CCNJL p.Asp101His Uncertain significance Single submitter
- CCNJL p.Leu239Val Uncertain significance Single submitter
- CCNJL p.Leu351Phe Uncertain significance Single submitter
- CCNJL p.Lys25Asn Uncertain significance Single submitter
- CCNJL p.Phe380Leu Uncertain significance Single submitter
- CCNJL p.Ser117Arg Uncertain significance Single submitter
- CCNJL p.Val191Phe Uncertain significance Single submitter
- CCNJL p.Val302Met Uncertain significance Single submitter
All CCNJL variants
Benign 2
- p.Ala63= Single submitter
- p.Val103Ile Single submitter
Likely benign 5
- c.280+4168T>C Single submitter
- p.Gly289Ser Single submitter
- p.Thr332Ala Single submitter
- p.Val345Met Single submitter
- p.Val76Ile Single submitter Inborn genetic diseases
Uncertain significance 64
- p.Ala148Thr Single submitter ⚠
- p.Ala207Ser Single submitter ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala284Val Single submitter ⚠
- p.Ala292Gly Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala356Val Single submitter ⚠
- p.Ala366Thr Single submitter ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg175Leu Single submitter ⚠
- p.Arg230Lys Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg387Lys Single submitter ⚠
- p.Arg39His Single submitter ⚠
- p.Arg40Trp Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asp101Asn Single submitter ⚠
- p.Asp101His Single submitter ⚠
- p.Asp311Asn Single submitter ⚠
- p.Asp72Tyr Single submitter ⚠
- p.Gln297Arg Single submitter ⚠
- p.Glu126Val Single submitter ⚠
- p.Glu4Ala Single submitter ⚠
- p.Gly270Cys Single submitter ⚠
- p.Gly383Ala Single submitter ⚠
- p.Gly383Val Single submitter ⚠
- p.His165Gln Single submitter ⚠
- p.His167Tyr Single submitter ⚠
- p.His238Tyr Single submitter ⚠
- p.Ile45Phe Single submitter ⚠
- p.Leu135Gln Single submitter ⚠
- p.Leu193Pro Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Leu247Arg Single submitter ⚠
- p.Leu265Val Single submitter ⚠
- p.Leu322Pro Single submitter ⚠
- p.Leu330Phe Single submitter ⚠
- p.Leu351Phe Single submitter ⚠
- p.Lys162Asn Single submitter ⚠
- p.Lys25Asn Single submitter ⚠
- p.Met267Val Single submitter ⚠
- p.Phe380Leu Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro286Gln Single submitter ⚠
- p.Pro291Ala Single submitter ⚠
- p.Pro291Leu Single submitter ⚠
- p.Ser117Arg Single submitter ⚠
- p.Ser204Cys Single submitter ⚠
- p.Ser233Arg Single submitter ⚠
- p.Ser323Leu Single submitter ⚠
- p.Ser323Pro Single submitter ⚠
- p.Thr146Met Single submitter ⚠
- p.Thr241Arg Single submitter ⚠
- p.Thr274Pro Single submitter ⚠
- p.Thr367Asn Single submitter ⚠
- p.Tyr154Phe Single submitter ⚠
- p.Val191Phe Single submitter ⚠
- p.Val253Ile Single submitter ⚠
- p.Val302Met Single submitter ⚠
- p.Val85Leu Single submitter ⚠
- p.Val85Met Single submitter ⚠