JADE2 — 102 ClinVar variants
All ClinVar germline JADE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
2 Benign · 4 Likely benign · 96 Uncertain significance
Full JADE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- JADE2 p.Ala439Asp Uncertain significance Single submitter
- JADE2 p.Ala439Thr Uncertain significance Single submitter
- JADE2 p.Ala668Val Uncertain significance Single submitter
- JADE2 p.Ala677Thr Uncertain significance Single submitter
- JADE2 p.Ala721Thr Uncertain significance Single submitter
- JADE2 p.Ala733Thr Uncertain significance Single submitter
- JADE2 p.Ala744Thr Uncertain significance Single submitter
- JADE2 p.Arg136His Uncertain significance Single submitter
- JADE2 p.Arg206Cys Uncertain significance Single submitter
- JADE2 p.Arg393Leu Uncertain significance Single submitter
- JADE2 p.Arg639Gly Uncertain significance Single submitter
- JADE2 p.Arg643Cys Uncertain significance Single submitter
- JADE2 p.Arg662Gln Uncertain significance Single submitter
- JADE2 p.Arg662Trp Uncertain significance Single submitter
- JADE2 p.Arg694Gln Uncertain significance Single submitter
- JADE2 p.Arg751Gln Uncertain significance Single submitter
- JADE2 p.Arg751Trp Uncertain significance Single submitter
- JADE2 p.Arg753Gln Uncertain significance Single submitter
- JADE2 p.Arg753Trp Uncertain significance Single submitter
- JADE2 p.Arg756Pro Uncertain significance Single submitter
- JADE2 p.Arg762Gln Uncertain significance Single submitter
- JADE2 p.Arg816Gln Uncertain significance Single submitter
- JADE2 p.Arg819Gln Uncertain significance Single submitter
- JADE2 p.Arg828His Uncertain significance Single submitter
- JADE2 p.Asn588Asp Uncertain significance Single submitter
- JADE2 p.Asp203Asn Uncertain significance Single submitter
- JADE2 p.Asp603Asn Uncertain significance Single submitter
- JADE2 p.Asp633Glu Uncertain significance Single submitter
- JADE2 p.Asp666Asn Uncertain significance Single submitter
- JADE2 p.Asp666Glu Uncertain significance Single submitter
- JADE2 p.Asp707Glu Uncertain significance Single submitter
- JADE2 p.Asp707His Uncertain significance Single submitter
- JADE2 p.Gln429Glu Uncertain significance Single submitter
- JADE2 p.Gln507Arg Uncertain significance Single submitter
- JADE2 p.Gln684Arg Uncertain significance Single submitter
- JADE2 p.Glu402Asp Uncertain significance Single submitter
- JADE2 p.Glu406Lys Uncertain significance Single submitter
- JADE2 p.Glu421Val Uncertain significance Single submitter
- JADE2 p.Glu512Gln Uncertain significance Single submitter
- JADE2 p.Glu727Asp Uncertain significance Single submitter
- JADE2 p.Glu727Lys Uncertain significance Single submitter
- JADE2 p.Glu808Gln Uncertain significance Single submitter
- JADE2 p.Glu810Lys Uncertain significance Single submitter
- JADE2 p.Glu825Asp Uncertain significance Single submitter
- JADE2 p.Gly111Asp Uncertain significance Single submitter
- JADE2 p.Gly685Glu Uncertain significance Single submitter
- JADE2 p.Gly741Asp Uncertain significance Single submitter
- JADE2 p.Gly766Val Uncertain significance Single submitter
- JADE2 p.Gly774Glu Uncertain significance Single submitter
- JADE2 p.Gly812Asp Uncertain significance Single submitter
- JADE2 p.Gly94Arg Uncertain significance Single submitter
- JADE2 p.His179Asn Uncertain significance Single submitter
- JADE2 p.Ile105Leu Uncertain significance Single submitter
- JADE2 p.Ile296Met Uncertain significance Single submitter
- JADE2 p.Ile348Val Uncertain significance Single submitter
- JADE2 p.Leu192Arg Uncertain significance Single submitter
- JADE2 p.Leu313Val Uncertain significance Single submitter
- JADE2 p.Lys681Asn Uncertain significance Single submitter
- JADE2 p.Met122Ile Uncertain significance Single submitter
- JADE2 p.Pro118Leu Uncertain significance Single submitter
- JADE2 p.Pro327Ala Uncertain significance Single submitter
- JADE2 p.Pro42Leu Uncertain significance Single submitter
- JADE2 p.Pro606Ala Uncertain significance Single submitter
- JADE2 p.Pro717Ser Uncertain significance Single submitter
- JADE2 p.Pro722Thr Uncertain significance Single submitter
- JADE2 p.Pro746Leu Uncertain significance Single submitter
- JADE2 p.Pro746Ser Uncertain significance Single submitter
- JADE2 p.Pro775Ser Uncertain significance Single submitter
- JADE2 p.Ser152Leu Uncertain significance Single submitter
- JADE2 p.Ser277Ile Uncertain significance Single submitter
- JADE2 p.Ser39Leu Uncertain significance Single submitter
- JADE2 p.Ser661Leu Uncertain significance Single submitter
- JADE2 p.Thr18Ser Uncertain significance Single submitter
- JADE2 p.Thr271Ser Uncertain significance Single submitter
- JADE2 p.Thr374Ile Uncertain significance Single submitter
- JADE2 p.Thr663Arg Uncertain significance Single submitter
- JADE2 p.Thr663Met Uncertain significance Single submitter
- JADE2 p.Thr672Ile Uncertain significance Single submitter
- JADE2 p.Thr724Ile Uncertain significance Single submitter
- JADE2 p.Val102Leu Uncertain significance Single submitter
- JADE2 p.Val224Ile Uncertain significance Single submitter
- JADE2 p.Val330Leu Uncertain significance Single submitter
- JADE2 p.Val785Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- JADE2 p.Arg206His Uncertain significance Single submitter
- JADE2 p.Arg346Gln Uncertain significance Single submitter
- JADE2 p.Arg6Gln Uncertain significance Single submitter
- JADE2 p.Asp56Glu Uncertain significance Single submitter
- JADE2 p.Asp65Glu Uncertain significance Single submitter
- JADE2 p.Cys497Gly Uncertain significance Single submitter
- JADE2 p.Gln500Arg Uncertain significance Single submitter
- JADE2 p.Ile348Met Uncertain significance Single submitter
- JADE2 p.Ser15Tyr Uncertain significance Single submitter
- JADE2 p.Ser310Phe Uncertain significance Single submitter
- JADE2 p.Thr492Lys Uncertain significance Single submitter
All JADE2 variants
Benign 2
- p.Gly368Val Single submitter
- p.Pro132Leu Single submitter
Likely benign 4
- p.Gly342Ser Single submitter
- p.Pro725Leu Single submitter
- p.Ser803= Single submitter
- p.Val330Ile Single submitter
Uncertain significance 96
- p.Ala439Asp Single submitter ⚠
- p.Ala439Thr Single submitter ⚠
- p.Ala668Val Single submitter ⚠
- p.Ala677Thr Single submitter ⚠
- p.Ala721Thr Single submitter ⚠
- p.Ala733Thr Single submitter ⚠
- p.Ala744Thr Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg206Cys Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Arg346Gln Single submitter ⚠
- p.Arg393Leu Single submitter ⚠
- p.Arg639Gly Single submitter ⚠
- p.Arg643Cys Single submitter ⚠
- p.Arg662Gln Single submitter ⚠
- p.Arg662Trp Single submitter ⚠
- p.Arg694Gln Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg751Gln Single submitter ⚠
- p.Arg751Trp Single submitter ⚠
- p.Arg753Gln Single submitter ⚠
- p.Arg753Trp Single submitter ⚠
- p.Arg756Pro Single submitter ⚠
- p.Arg762Gln Single submitter ⚠
- p.Arg816Gln Single submitter ⚠
- p.Arg819Gln Single submitter ⚠
- p.Arg828Cys Single submitter
- p.Arg828His Single submitter ⚠
- p.Asn588Asp Single submitter ⚠
- p.Asp203Asn Single submitter ⚠
- p.Asp56Glu Single submitter ⚠
- p.Asp603Asn Single submitter ⚠
- p.Asp633Glu Single submitter ⚠
- p.Asp65Glu Single submitter ⚠
- p.Asp666Asn Single submitter ⚠
- p.Asp666Glu Single submitter ⚠
- p.Asp707Glu Single submitter ⚠
- p.Asp707His Single submitter ⚠
- p.Cys497Gly Single submitter ⚠
- p.Gln429Glu Single submitter ⚠
- p.Gln500Arg Single submitter ⚠
- p.Gln507Arg Single submitter ⚠
- p.Gln684Arg Single submitter ⚠
- p.Glu402Asp Single submitter ⚠
- p.Glu406Lys Single submitter ⚠
- p.Glu421Val Single submitter ⚠
- p.Glu512Gln Single submitter ⚠
- p.Glu727Asp Single submitter ⚠
- p.Glu727Lys Single submitter ⚠
- p.Glu808Gln Single submitter ⚠
- p.Glu810Lys Single submitter ⚠
- p.Glu825Asp Single submitter ⚠
- p.Gly111Asp Single submitter ⚠
- p.Gly685Glu Single submitter ⚠
- p.Gly741Asp Single submitter ⚠
- p.Gly766Val Single submitter ⚠
- p.Gly774Glu Single submitter ⚠
- p.Gly812Asp Single submitter ⚠
- p.Gly94Arg Single submitter ⚠
- p.His179Asn Single submitter ⚠
- p.Ile105Leu Single submitter ⚠
- p.Ile296Met Single submitter ⚠
- p.Ile348Met Single submitter ⚠
- p.Ile348Val Single submitter ⚠
- p.Leu192Arg Single submitter ⚠
- p.Leu313Val Single submitter ⚠
- p.Lys681Asn Single submitter ⚠
- p.Met122Ile Single submitter ⚠
- p.Pro118Leu Single submitter ⚠
- p.Pro327Ala Single submitter ⚠
- p.Pro42Leu Single submitter ⚠
- p.Pro606Ala Single submitter ⚠
- p.Pro717Ser Single submitter ⚠
- p.Pro722Thr Single submitter ⚠
- p.Pro746Leu Single submitter ⚠
- p.Pro746Ser Single submitter ⚠
- p.Pro775Ser Single submitter ⚠
- p.Ser152Leu Single submitter ⚠
- p.Ser15Tyr Single submitter ⚠
- p.Ser277Ile Single submitter ⚠
- p.Ser310Phe Single submitter ⚠
- p.Ser39Leu Single submitter ⚠
- p.Ser661Leu Single submitter ⚠
- p.Thr18Ser Single submitter ⚠
- p.Thr271Ser Single submitter ⚠
- p.Thr374Ile Single submitter ⚠
- p.Thr492Lys Single submitter ⚠
- p.Thr663Arg Single submitter ⚠
- p.Thr663Met Single submitter ⚠
- p.Thr672Ile Single submitter ⚠
- p.Thr724Ile Single submitter ⚠
- p.Val102Leu Single submitter ⚠
- p.Val224Ile Single submitter ⚠
- p.Val330Leu Single submitter ⚠
- p.Val549fs Single submitter JADE2-associated Neurodevelopmental Disorder
- p.Val785Ile Single submitter ⚠