APPL2 — 94 ClinVar variants
All ClinVar germline APPL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
4 Likely benign · 90 Uncertain significance
Full APPL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APPL2 p.Ala145Val Uncertain significance Single submitter
- APPL2 p.Ala187Thr Uncertain significance Single submitter
- APPL2 p.Ala445Thr Uncertain significance Single submitter
- APPL2 p.Ala445Val Uncertain significance Single submitter
- APPL2 p.Ala503Val Uncertain significance Single submitter
- APPL2 p.Ala660Thr Uncertain significance Single submitter
- APPL2 p.Arg119Gln Uncertain significance Single submitter
- APPL2 p.Arg338Gln Uncertain significance Single submitter
- APPL2 p.Arg339His Uncertain significance Single submitter
- APPL2 p.Arg466Gly Uncertain significance Single submitter
- APPL2 p.Arg470Cys Uncertain significance Single submitter
- APPL2 p.Asn138Lys Uncertain significance Single submitter
- APPL2 p.Asn308Thr Uncertain significance Single submitter
- APPL2 p.Asn348Ser Uncertain significance Single submitter
- APPL2 p.Asn465Ser Uncertain significance Single submitter
- APPL2 p.Asp507Asn Uncertain significance Single submitter
- APPL2 p.Asp645Asn Uncertain significance Single submitter
- APPL2 p.Glu157Asp Uncertain significance Single submitter
- APPL2 p.Glu259Asp Uncertain significance Single submitter
- APPL2 p.Glu259Gln Uncertain significance Single submitter
- APPL2 p.Glu298Gly Uncertain significance Single submitter
- APPL2 p.Glu588Lys Uncertain significance Single submitter
- APPL2 p.Glu663Gln Uncertain significance Single submitter
- APPL2 p.Glu663Lys Uncertain significance Single submitter
- APPL2 p.Gly214Arg Uncertain significance Single submitter
- APPL2 p.Gly500Glu Uncertain significance Single submitter
- APPL2 p.Gly638Arg Uncertain significance Single submitter
- APPL2 p.His175Leu Uncertain significance Single submitter
- APPL2 p.His87Arg Uncertain significance Single submitter
- APPL2 p.Ile353Leu Uncertain significance Single submitter
- APPL2 p.Ile353Val Uncertain significance Single submitter
- APPL2 p.Ile377Val Uncertain significance Single submitter
- APPL2 p.Ile615Leu Uncertain significance Single submitter
- APPL2 p.Ile616Thr Uncertain significance Single submitter
- APPL2 p.Leu417Arg Uncertain significance Single submitter
- APPL2 p.Leu490Trp Uncertain significance Single submitter
- APPL2 p.Met111Val Uncertain significance Single submitter
- APPL2 p.Met247Thr Uncertain significance Single submitter
- APPL2 p.Phe133Tyr Uncertain significance Single submitter
- APPL2 p.Phe566Leu Uncertain significance Single submitter
- APPL2 p.Pro449Leu Uncertain significance Single submitter
- APPL2 p.Ser410Thr Uncertain significance Single submitter
- APPL2 p.Ser535Cys Uncertain significance Single submitter
- APPL2 p.Ser541Asn Uncertain significance Single submitter
- APPL2 p.Ser662Phe Uncertain significance Single submitter
- APPL2 p.Thr101Ala Uncertain significance Single submitter
- APPL2 p.Thr346Met Uncertain significance Single submitter
- APPL2 p.Thr402Ile Uncertain significance Single submitter
- APPL2 p.Thr448Met Uncertain significance Single submitter
- APPL2 p.Thr459Lys Uncertain significance Single submitter
- APPL2 p.Thr58Ile Uncertain significance Single submitter
- APPL2 p.Thr85Ala Uncertain significance Single submitter
- APPL2 p.Tyr190Cys Uncertain significance Single submitter
- APPL2 p.Tyr48Cys Uncertain significance Single submitter
- APPL2 p.Val229Ala Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- APPL2 p.Ala136Thr Uncertain significance Single submitter
- APPL2 p.Ala168Gly Uncertain significance Single submitter
- APPL2 p.Ala516Val Uncertain significance Single submitter
- APPL2 p.Ala626Val Uncertain significance Single submitter
- APPL2 p.Arg46His Uncertain significance Single submitter
- APPL2 p.Arg470His Uncertain significance Single submitter
- APPL2 p.Arg497Gln Uncertain significance Single submitter
- APPL2 p.Arg531Cys Uncertain significance Single submitter
- APPL2 p.Asn327Asp Uncertain significance Single submitter
- APPL2 p.Asn610Tyr Uncertain significance Single submitter
- APPL2 p.Asp122Asn Uncertain significance Single submitter
- APPL2 p.Asp258Tyr Uncertain significance Single submitter
- APPL2 p.Asp337Glu Uncertain significance Single submitter
- APPL2 p.Asp35Gly Uncertain significance Single submitter
- APPL2 p.Asp35His Uncertain significance Single submitter
- APPL2 p.Asp453Asn Uncertain significance Single submitter
- APPL2 p.Cys55Tyr Uncertain significance Single submitter
- APPL2 p.Gln619His Uncertain significance Single submitter
- APPL2 p.Glu162Asp Uncertain significance Single submitter
- APPL2 p.Glu441Gly Uncertain significance Single submitter
- APPL2 p.Glu515Gln Uncertain significance Single submitter
- APPL2 p.Gly352Arg Uncertain significance Single submitter
- APPL2 p.His527Gln Uncertain significance Single submitter
- APPL2 p.Ile526Thr Uncertain significance Single submitter
- APPL2 p.Leu390Phe Uncertain significance Single submitter
- APPL2 p.Leu7Phe Uncertain significance Single submitter
- APPL2 p.Met502Thr Uncertain significance Single submitter
- APPL2 p.Phe210Leu Uncertain significance Single submitter
- APPL2 p.Phe474Leu Uncertain significance Single submitter
- APPL2 p.Pro446Leu Uncertain significance Single submitter
- APPL2 p.Pro457Ser Uncertain significance Single submitter
- APPL2 p.Ser177Pro Uncertain significance Single submitter
- APPL2 p.Ser227Cys Uncertain significance Single submitter
- APPL2 p.Val25Met Uncertain significance Single submitter
- APPL2 p.Val520Leu Uncertain significance Single submitter
All APPL2 variants
Likely benign 4
- p.Asp650Asn Single submitter
- p.Glu478= Single submitter
- p.Ile201Leu Single submitter
- p.Ser266Phe Single submitter
Uncertain significance 90
- p.Ala136Thr Single submitter ⚠
- p.Ala145Val Single submitter ⚠
- p.Ala168Gly Single submitter ⚠
- p.Ala187Thr Single submitter ⚠
- p.Ala445Thr Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Ala503Val Single submitter ⚠
- p.Ala516Val Single submitter ⚠
- p.Ala626Val Single submitter ⚠
- p.Ala660Thr Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg338Gln Single submitter ⚠
- p.Arg339His Single submitter ⚠
- p.Arg466Gly Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg470Cys Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg497Gln Single submitter ⚠
- p.Arg531Cys Single submitter ⚠
- p.Asn138Lys Single submitter ⚠
- p.Asn308Thr Single submitter ⚠
- p.Asn327Asp Single submitter ⚠
- p.Asn348Ser Single submitter ⚠
- p.Asn465Ser Single submitter ⚠
- p.Asn610Tyr Single submitter ⚠
- p.Asp122Asn Single submitter ⚠
- p.Asp258Tyr Single submitter ⚠
- p.Asp337Glu Single submitter ⚠
- p.Asp35Gly Single submitter ⚠
- p.Asp35His Single submitter ⚠
- p.Asp453Asn Single submitter ⚠
- p.Asp507Asn Single submitter ⚠
- p.Asp645Asn Single submitter ⚠
- p.Cys55Tyr Single submitter ⚠
- p.Gln619His Single submitter ⚠
- p.Glu157Asp Single submitter ⚠
- p.Glu162Asp Single submitter ⚠
- p.Glu259Asp Single submitter ⚠
- p.Glu259Gln Single submitter ⚠
- p.Glu298Gly Single submitter ⚠
- p.Glu441Gly Single submitter ⚠
- p.Glu515Gln Single submitter ⚠
- p.Glu588Lys Single submitter ⚠
- p.Glu663Gln Single submitter ⚠
- p.Glu663Lys Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Gly352Arg Single submitter ⚠
- p.Gly500Glu Single submitter ⚠
- p.Gly638Arg Single submitter ⚠
- p.His175Leu Single submitter ⚠
- p.His527Gln Single submitter ⚠
- p.His87Arg Single submitter ⚠
- p.Ile353Leu Single submitter ⚠
- p.Ile353Val Single submitter ⚠
- p.Ile377Val Single submitter ⚠
- p.Ile526Thr Single submitter ⚠
- p.Ile615Leu Single submitter ⚠
- p.Ile616Thr Single submitter ⚠
- p.Leu390Phe Single submitter ⚠
- p.Leu417Arg Single submitter ⚠
- p.Leu490Trp Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Met111Val Single submitter ⚠
- p.Met247Thr Single submitter ⚠
- p.Met502Thr Single submitter ⚠
- p.Phe133Tyr Single submitter ⚠
- p.Phe210Leu Single submitter ⚠
- p.Phe474Leu Single submitter ⚠
- p.Phe566Leu Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro449Leu Single submitter ⚠
- p.Pro457Ser Single submitter ⚠
- p.Ser177Pro Single submitter ⚠
- p.Ser227Cys Single submitter ⚠
- p.Ser410Thr Single submitter ⚠
- p.Ser535Cys Single submitter ⚠
- p.Ser541Asn Single submitter ⚠
- p.Ser662Phe Single submitter ⚠
- p.Thr101Ala Single submitter ⚠
- p.Thr346Met Single submitter ⚠
- p.Thr402Ile Single submitter ⚠
- p.Thr448Met Single submitter ⚠
- p.Thr459Lys Single submitter ⚠
- p.Thr58Ile Single submitter ⚠
- p.Thr85Ala Single submitter ⚠
- p.Tyr190Cys Single submitter ⚠
- p.Tyr48Cys Single submitter ⚠
- p.Val229Ala Single submitter ⚠
- p.Val25Met Single submitter ⚠
- p.Val520Leu Single submitter ⚠