ARL14EPL — 43 ClinVar variants
All ClinVar germline ARL14EPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
4 Likely benign · 39 Uncertain significance
Full ARL14EPL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARL14EPL p.Ala95Thr Uncertain significance Single submitter
- ARL14EPL p.Arg125His Uncertain significance Single submitter
- ARL14EPL p.Arg128Gln Uncertain significance Single submitter
- ARL14EPL p.Arg59Thr Uncertain significance Single submitter
- ARL14EPL p.Arg66Gln Uncertain significance Single submitter
- ARL14EPL p.Asn118Lys Uncertain significance Single submitter
- ARL14EPL p.Asn118Ser Uncertain significance Single submitter
- ARL14EPL p.Asn149Ser Uncertain significance Single submitter
- ARL14EPL p.Asn2Lys Uncertain significance Single submitter
- ARL14EPL p.Asn71Ser Uncertain significance Single submitter
- ARL14EPL p.Asp99Asn Uncertain significance Single submitter
- ARL14EPL p.Cys105Tyr Uncertain significance Single submitter
- ARL14EPL p.Cys25Ser Uncertain significance Single submitter
- ARL14EPL p.Glu123Asp Uncertain significance Single submitter
- ARL14EPL p.Glu138Val Uncertain significance Single submitter
- ARL14EPL p.Glu36Gln Uncertain significance Single submitter
- ARL14EPL p.Glu6Lys Uncertain significance Single submitter
- ARL14EPL p.Gly88Val Uncertain significance Single submitter
- ARL14EPL p.His18Leu Uncertain significance Single submitter
- ARL14EPL p.Ile11Val Uncertain significance Single submitter
- ARL14EPL p.Leu101Ile Uncertain significance Single submitter
- ARL14EPL p.Leu32Arg Uncertain significance Single submitter
- ARL14EPL p.Lys62Arg Uncertain significance Single submitter
- ARL14EPL p.Lys64Arg Uncertain significance Single submitter
- ARL14EPL p.Lys64Asn Uncertain significance Single submitter
- ARL14EPL p.Lys86Glu Uncertain significance Single submitter
- ARL14EPL p.Thr58Ile Uncertain significance Single submitter
- ARL14EPL p.Val136Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ARL14EPL p.Asp133Asn Uncertain significance Single submitter
- ARL14EPL p.Glu36Gly Uncertain significance Single submitter
- ARL14EPL p.Ile35Thr Uncertain significance Single submitter
- ARL14EPL p.Lys77Arg Uncertain significance Single submitter
- ARL14EPL p.Met70Ile Uncertain significance Single submitter
- ARL14EPL p.Met70Thr Uncertain significance Single submitter
- ARL14EPL p.Pro113Leu Uncertain significance Single submitter
- ARL14EPL p.Pro147Leu Uncertain significance Single submitter
- ARL14EPL p.Pro56Ser Uncertain significance Single submitter
- ARL14EPL p.Pro56Thr Uncertain significance Single submitter
- ARL14EPL p.Thr145Met Uncertain significance Single submitter
All ARL14EPL variants
Likely benign 4
- p.Ala95Val Single submitter
- p.Arg14Gly Single submitter
- p.Ile11Thr Single submitter
- p.Lys79= Single submitter
Uncertain significance 39
- p.Ala95Thr Single submitter ⚠
- p.Arg125His Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg59Thr Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Asn118Lys Single submitter ⚠
- p.Asn118Ser Single submitter ⚠
- p.Asn149Ser Single submitter ⚠
- p.Asn2Lys Single submitter ⚠
- p.Asn71Ser Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Cys105Tyr Single submitter ⚠
- p.Cys25Ser Single submitter ⚠
- p.Glu123Asp Single submitter ⚠
- p.Glu138Val Single submitter ⚠
- p.Glu36Gln Single submitter ⚠
- p.Glu36Gly Single submitter ⚠
- p.Glu6Lys Single submitter ⚠
- p.Gly88Val Single submitter ⚠
- p.His18Leu Single submitter ⚠
- p.Ile11Val Single submitter ⚠
- p.Ile35Thr Single submitter ⚠
- p.Leu101Ile Single submitter ⚠
- p.Leu32Arg Single submitter ⚠
- p.Lys62Arg Single submitter ⚠
- p.Lys64Arg Single submitter ⚠
- p.Lys64Asn Single submitter ⚠
- p.Lys77Arg Single submitter ⚠
- p.Lys86Glu Single submitter ⚠
- p.Met70Ile Single submitter ⚠
- p.Met70Thr Single submitter ⚠
- p.Pro113Leu Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Pro56Thr Single submitter ⚠
- p.Thr145Met Single submitter ⚠
- p.Thr58Ile Single submitter ⚠
- p.Val136Leu Single submitter ⚠