SELL — 55 ClinVar variants
All ClinVar germline SELL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
4 Benign · 2 Likely benign · 49 Uncertain significance
Full SELL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SELL p.Ala158Asp Uncertain significance Single submitter
- SELL p.Ala277Val Uncertain significance Single submitter
- SELL p.Arg357Ile Uncertain significance Single submitter
- SELL p.Asn121Lys Uncertain significance Single submitter
- SELL p.Asn216Lys Uncertain significance Single submitter
- SELL p.Asp320Glu Uncertain significance Single submitter
- SELL p.Cys165Tyr Uncertain significance Single submitter
- SELL p.Cys171Ser Uncertain significance Single submitter
- SELL p.Cys259Arg Uncertain significance Single submitter
- SELL p.Cys7Ser Uncertain significance Single submitter
- SELL p.Gln51Arg Uncertain significance Single submitter
- SELL p.Gln51Lys Uncertain significance Single submitter
- SELL p.Glu170Gln Uncertain significance Single submitter
- SELL p.Glu237Gly Uncertain significance Single submitter
- SELL p.Gly297Arg Uncertain significance Single submitter
- SELL p.Gly329Asp Uncertain significance Single submitter
- SELL p.Gly95Arg Uncertain significance Single submitter
- SELL p.His148Arg Uncertain significance Single submitter
- SELL p.His33Arg Uncertain significance Single submitter
- SELL p.Ile288Thr Uncertain significance Single submitter
- SELL p.Ile296Leu Uncertain significance Single submitter
- SELL p.Ile302Thr Uncertain significance Single submitter
- SELL p.Ile67Thr Uncertain significance Single submitter
- SELL p.Lys298Arg Uncertain significance Single submitter
- SELL p.Lys46Ile Uncertain significance Single submitter
- SELL p.Met25Thr Uncertain significance Single submitter
- SELL p.Met325Val Uncertain significance Single submitter
- SELL p.Met368Val Uncertain significance Single submitter
- SELL p.Phe193Tyr Uncertain significance Single submitter
- SELL p.Phe244Ser Uncertain significance Single submitter
- SELL p.Pro189Ser Uncertain significance Single submitter
- SELL p.Pro243Thr Uncertain significance Single submitter
- SELL p.Thr286Asn Uncertain significance Single submitter
- SELL p.Val184Ala Uncertain significance Single submitter
- SELL p.Val184Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- SELL p.Arg84Cys Uncertain significance Single submitter
- SELL p.Asn60Asp Uncertain significance Single submitter
- SELL p.Gln258Arg Uncertain significance Single submitter
- SELL p.Glu118Asp Uncertain significance Single submitter
- SELL p.His274Tyr Uncertain significance Single submitter
- SELL p.Leu233Ile Uncertain significance Single submitter
- SELL p.Leu295Phe Uncertain significance Single submitter
- SELL p.Thr179Ile Uncertain significance Single submitter
- SELL p.Thr99Met Uncertain significance Single submitter
- SELL p.Tyr187Cys Uncertain significance Single submitter
- SELL p.Val101Leu Uncertain significance Single submitter
All SELL variants
Benign 4
- p.Glu201Gln Multiple submitters
- p.Gly117= Multiple submitters
- p.Gly22= Single submitter
- p.Thr36Ser Single submitter
Likely benign 2
- p.Arg58Gln Single submitter
- p.Glu109Lys Single submitter
Uncertain significance 49
- c.-17A>G Single submitter
- p.Ala158Asp Single submitter ⚠
- p.Ala277Val Single submitter ⚠
- p.Arg357Ile Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Asn113Ser Single submitter
- p.Asn121Lys Single submitter ⚠
- p.Asn216Lys Single submitter ⚠
- p.Asn60Asp Single submitter ⚠
- p.Asp320Glu Single submitter ⚠
- p.Cys165Tyr Single submitter ⚠
- p.Cys171Ser Single submitter ⚠
- p.Cys259Arg Single submitter ⚠
- p.Cys7Ser Single submitter ⚠
- p.Gln258Arg Single submitter ⚠
- p.Gln51Arg Single submitter ⚠
- p.Gln51Lys Single submitter ⚠
- p.Glu118Asp Single submitter ⚠
- p.Glu170Gln Single submitter ⚠
- p.Glu237Gly Single submitter ⚠
- p.Gly297Arg Single submitter ⚠
- p.Gly329Asp Single submitter ⚠
- p.Gly95Arg Single submitter ⚠
- p.His148Arg Single submitter ⚠
- p.His274Tyr Single submitter ⚠
- p.His33Arg Single submitter ⚠
- p.Ile288Thr Single submitter ⚠
- p.Ile296Leu Single submitter ⚠
- p.Ile302Thr Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Leu233Ile Single submitter ⚠
- p.Leu262Pro Single submitter
- p.Leu295Phe Single submitter ⚠
- p.Lys298Arg Single submitter ⚠
- p.Lys46Ile Single submitter ⚠
- p.Met25Thr Single submitter ⚠
- p.Met325Val Single submitter ⚠
- p.Met368Val Single submitter ⚠
- p.Phe193Tyr Single submitter ⚠
- p.Phe244Ser Single submitter ⚠
- p.Pro189Ser Single submitter ⚠
- p.Pro243Thr Single submitter ⚠
- p.Thr179Ile Single submitter ⚠
- p.Thr286Asn Single submitter ⚠
- p.Thr99Met Single submitter ⚠
- p.Tyr187Cys Single submitter ⚠
- p.Val101Leu Single submitter ⚠
- p.Val184Ala Single submitter ⚠
- p.Val184Leu Single submitter ⚠