AREL1 — 116 ClinVar variants
All ClinVar germline AREL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
1 Likely benign · 115 Uncertain significance
Full AREL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 87
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AREL1 p.Ala14Val Uncertain significance Single submitter
- AREL1 p.Ala150Thr Uncertain significance Single submitter
- AREL1 p.Ala470Ser Uncertain significance Single submitter
- AREL1 p.Ala586Gly Uncertain significance Single submitter
- AREL1 p.Ala647Val Uncertain significance Single submitter
- AREL1 p.Ala654Glu Uncertain significance Single submitter
- AREL1 p.Ala654Val Uncertain significance Single submitter
- AREL1 p.Ala693Ser Uncertain significance Single submitter
- AREL1 p.Arg238Ser Uncertain significance Single submitter
- AREL1 p.Arg246Gln Uncertain significance Single submitter
- AREL1 p.Arg286His Uncertain significance Single submitter
- AREL1 p.Arg324His Uncertain significance Single submitter
- AREL1 p.Arg38Cys Uncertain significance Single submitter
- AREL1 p.Arg38His Uncertain significance Single submitter
- AREL1 p.Arg38Leu Uncertain significance Single submitter
- AREL1 p.Arg40Cys Uncertain significance Single submitter
- AREL1 p.Arg40His Uncertain significance Single submitter
- AREL1 p.Arg41Gly Uncertain significance Single submitter
- AREL1 p.Arg448Gln Uncertain significance Single submitter
- AREL1 p.Arg44Gln Uncertain significance Single submitter
- AREL1 p.Arg451Trp Uncertain significance Single submitter
- AREL1 p.Arg480Trp Uncertain significance Single submitter
- AREL1 p.Arg508Trp Uncertain significance Single submitter
- AREL1 p.Arg557Gln Uncertain significance Single submitter
- AREL1 p.Arg58Gln Uncertain significance Single submitter
- AREL1 p.Arg750Trp Uncertain significance Single submitter
- AREL1 p.Asn282Ser Uncertain significance Single submitter
- AREL1 p.Asn287Ser Uncertain significance Single submitter
- AREL1 p.Asn306Ser Uncertain significance Single submitter
- AREL1 p.Asp497Asn Uncertain significance Single submitter
- AREL1 p.Asp637Ala Uncertain significance Single submitter
- AREL1 p.Cys307Tyr Uncertain significance Single submitter
- AREL1 p.Cys515Tyr Uncertain significance Single submitter
- AREL1 p.Gln496Pro Uncertain significance Single submitter
- AREL1 p.Gln587Arg Uncertain significance Single submitter
- AREL1 p.Glu208Lys Uncertain significance Single submitter
- AREL1 p.Glu39Lys Uncertain significance Single submitter
- AREL1 p.Glu473Asp Uncertain significance Single submitter
- AREL1 p.Glu675Lys Uncertain significance Single submitter
- AREL1 p.Glu818Gln Uncertain significance Single submitter
- AREL1 p.Glu818Lys Uncertain significance Single submitter
- AREL1 p.Gly219Ser Uncertain significance Single submitter
- AREL1 p.Gly560Arg Uncertain significance Single submitter
- AREL1 p.Gly560Val Uncertain significance Single submitter
- AREL1 p.His209Tyr Uncertain significance Single submitter
- AREL1 p.His459Arg Uncertain significance Single submitter
- AREL1 p.His74Tyr Uncertain significance Single submitter
- AREL1 p.Ile215Val Uncertain significance Single submitter
- AREL1 p.Ile514Leu Uncertain significance Single submitter
- AREL1 p.Ile5Phe Uncertain significance Single submitter
- AREL1 p.Leu205Val Uncertain significance Single submitter
- AREL1 p.Leu22Val Uncertain significance Single submitter
- AREL1 p.Leu390Phe Uncertain significance Single submitter
- AREL1 p.Leu518Val Uncertain significance Single submitter
- AREL1 p.Leu691Phe Uncertain significance Single submitter
- AREL1 p.Leu692Ser Uncertain significance Single submitter
- AREL1 p.Leu702Pro Uncertain significance Single submitter
- AREL1 p.Lys156Arg Uncertain significance Single submitter
- AREL1 p.Lys281Thr Uncertain significance Single submitter
- AREL1 p.Lys489Arg Uncertain significance Single submitter
- AREL1 p.Lys609Glu Uncertain significance Single submitter
- AREL1 p.Met319Arg Uncertain significance Single submitter
- AREL1 p.Phe230Cys Uncertain significance Single submitter
- AREL1 p.Pro184Leu Uncertain significance Single submitter
- AREL1 p.Pro350Leu Uncertain significance Single submitter
- AREL1 p.Pro89Ala Uncertain significance Single submitter
- AREL1 p.Pro95His Uncertain significance Single submitter
- AREL1 p.Ser214Cys Uncertain significance Single submitter
- AREL1 p.Ser337Leu Uncertain significance Single submitter
- AREL1 p.Ser460Cys Uncertain significance Single submitter
- AREL1 p.Thr186Asn Uncertain significance Single submitter
- AREL1 p.Thr226Ile Uncertain significance Single submitter
- AREL1 p.Thr343Asn Uncertain significance Single submitter
- AREL1 p.Thr521Ala Uncertain significance Single submitter
- AREL1 p.Thr783Met Uncertain significance Single submitter
- AREL1 p.Thr9Ala Uncertain significance Single submitter
- AREL1 p.Tyr155Cys Uncertain significance Single submitter
- AREL1 p.Tyr70Cys Uncertain significance Single submitter
- AREL1 p.Val125Ile Uncertain significance Single submitter
- AREL1 p.Val12Leu Uncertain significance Single submitter
- AREL1 p.Val190Ile Uncertain significance Single submitter
- AREL1 p.Val284Ile Uncertain significance Single submitter
- AREL1 p.Val293Met Uncertain significance Single submitter
- AREL1 p.Val443Met Uncertain significance Single submitter
- AREL1 p.Val453Ile Uncertain significance Single submitter
- AREL1 p.Val676Glu Uncertain significance Single submitter
- AREL1 p.Val720Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- AREL1 p.Arg286Pro Uncertain significance Single submitter
- AREL1 p.Arg375His Uncertain significance Single submitter
- AREL1 p.Arg507Cys Uncertain significance Single submitter
- AREL1 p.Arg507His Uncertain significance Single submitter
- AREL1 p.Asp696Asn Uncertain significance Single submitter
- AREL1 p.Gly757Ala Uncertain significance Single submitter
- AREL1 p.Gly87Glu Uncertain significance Single submitter
- AREL1 p.His594Arg Uncertain significance Single submitter
- AREL1 p.Ile274Thr Uncertain significance Single submitter
- AREL1 p.Ile433Thr Uncertain significance Single submitter
- AREL1 p.Ile589Thr Uncertain significance Single submitter
- AREL1 p.Leu525Phe Uncertain significance Single submitter
- AREL1 p.Lys596Glu Uncertain significance Single submitter
- AREL1 p.Phe174Val Uncertain significance Single submitter
- AREL1 p.Phe605Leu Uncertain significance Single submitter
- AREL1 p.Pro57Thr Uncertain significance Single submitter
- AREL1 p.Thr18Ile Uncertain significance Single submitter
- AREL1 p.Thr798Lys Uncertain significance Single submitter
- AREL1 p.Trp503Arg Uncertain significance Single submitter
- AREL1 p.Trp503Gly Uncertain significance Single submitter
- AREL1 p.Val537Leu Uncertain significance Single submitter
All AREL1 variants
Likely benign 1
- p.Val402= Single submitter
Uncertain significance 115
- p.Ala14Val Single submitter ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala470Ser Single submitter ⚠
- p.Ala586Gly Single submitter ⚠
- p.Ala647Val Single submitter ⚠
- p.Ala654Glu Single submitter ⚠
- p.Ala654Val Single submitter ⚠
- p.Ala693Ser Single submitter ⚠
- p.Arg238Ser Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg252Ter Single submitter
- p.Arg286His Single submitter ⚠
- p.Arg286Pro Single submitter ⚠
- p.Arg324His Single submitter ⚠
- p.Arg375His Single submitter ⚠
- p.Arg38Cys Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg38Leu Single submitter ⚠
- p.Arg40Cys Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Arg41Gly Single submitter ⚠
- p.Arg448Gln Single submitter ⚠
- p.Arg44Gln Single submitter ⚠
- p.Arg451Trp Single submitter ⚠
- p.Arg480Trp Single submitter ⚠
- p.Arg507Cys Single submitter ⚠
- p.Arg507His Single submitter ⚠
- p.Arg508Trp Single submitter ⚠
- p.Arg51Trp Single submitter
- p.Arg528Trp Single submitter
- p.Arg548Cys Single submitter
- p.Arg557Gln Single submitter ⚠
- p.Arg579His Single submitter
- p.Arg58Gln Single submitter ⚠
- p.Arg750Trp Single submitter ⚠
- p.Asn282Ser Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asn306Ser Single submitter ⚠
- p.Asp497Asn Single submitter ⚠
- p.Asp637Ala Single submitter ⚠
- p.Asp696Asn Single submitter ⚠
- p.Cys307Tyr Single submitter ⚠
- p.Cys515Tyr Single submitter ⚠
- p.Gln496Pro Single submitter ⚠
- p.Gln587Arg Single submitter ⚠
- p.Glu208Lys Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu473Asp Single submitter ⚠
- p.Glu675Lys Single submitter ⚠
- p.Glu818Gln Single submitter ⚠
- p.Glu818Lys Single submitter ⚠
- p.Gly219Ser Single submitter ⚠
- p.Gly560Arg Single submitter ⚠
- p.Gly560Val Single submitter ⚠
- p.Gly757Ala Single submitter ⚠
- p.Gly87Glu Single submitter ⚠
- p.His209Tyr Single submitter ⚠
- p.His459Arg Single submitter ⚠
- p.His594Arg Single submitter ⚠
- p.His74Tyr Single submitter ⚠
- p.Ile215Val Single submitter ⚠
- p.Ile274Thr Single submitter ⚠
- p.Ile433Thr Single submitter ⚠
- p.Ile514Leu Single submitter ⚠
- p.Ile589Thr Single submitter ⚠
- p.Ile5Phe Single submitter ⚠
- p.Leu205Val Single submitter ⚠
- p.Leu22Val Single submitter ⚠
- p.Leu390Phe Single submitter ⚠
- p.Leu518Val Single submitter ⚠
- p.Leu525Phe Single submitter ⚠
- p.Leu663Met Single submitter
- p.Leu691Phe Single submitter ⚠
- p.Leu692Ser Single submitter ⚠
- p.Leu702Pro Single submitter ⚠
- p.Lys156Arg Single submitter ⚠
- p.Lys281Thr Single submitter ⚠
- p.Lys489Arg Single submitter ⚠
- p.Lys596Glu Single submitter ⚠
- p.Lys609Glu Single submitter ⚠
- p.Met319Arg Single submitter ⚠
- p.Phe174Val Single submitter ⚠
- p.Phe230Cys Single submitter ⚠
- p.Phe605Leu Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro350Leu Single submitter ⚠
- p.Pro57Thr Single submitter ⚠
- p.Pro89Ala Single submitter ⚠
- p.Pro95His Single submitter ⚠
- p.Ser214Cys Single submitter ⚠
- p.Ser337Leu Single submitter ⚠
- p.Ser460Cys Single submitter ⚠
- p.Thr186Asn Single submitter ⚠
- p.Thr18Ile Single submitter ⚠
- p.Thr226Ile Single submitter ⚠
- p.Thr343Asn Single submitter ⚠
- p.Thr521Ala Single submitter ⚠
- p.Thr783Met Single submitter ⚠
- p.Thr798Lys Single submitter ⚠
- p.Thr9Ala Single submitter ⚠
- p.Trp503Arg Single submitter ⚠
- p.Trp503Gly Single submitter ⚠
- p.Tyr155Cys Single submitter ⚠
- p.Tyr356Cys Single submitter
- p.Tyr70Cys Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val12Leu Single submitter ⚠
- p.Val190Ile Single submitter ⚠
- p.Val284Ile Single submitter ⚠
- p.Val293Met Single submitter ⚠
- p.Val443Met Single submitter ⚠
- p.Val453Ile Single submitter ⚠
- p.Val537Leu Single submitter ⚠
- p.Val676Glu Single submitter ⚠
- p.Val720Ile Single submitter ⚠