SELP — 123 ClinVar variants
All ClinVar germline SELP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
1 Likely pathogenic · 13 Benign · 11 Likely benign · 98 Uncertain significance
Full SELP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SELP p.Ala246Val Uncertain significance Single submitter
- SELP p.Ala329Thr Uncertain significance Single submitter
- SELP p.Ala405Gly Uncertain significance Single submitter
- SELP p.Ala405Val Uncertain significance Single submitter
- SELP p.Ala674Ser Uncertain significance Single submitter
- SELP p.Ala674Thr Uncertain significance Single submitter
- SELP p.Arg415Cys Uncertain significance Single submitter
- SELP p.Arg423Lys Uncertain significance Single submitter
- SELP p.Arg429Leu Uncertain significance Single submitter
- SELP p.Arg458Trp Uncertain significance Single submitter
- SELP p.Asn272His Uncertain significance Single submitter
- SELP p.Asp232Asn Uncertain significance Single submitter
- SELP p.Asp409Val Uncertain significance Single submitter
- SELP p.Asp426Asn Uncertain significance Single submitter
- SELP p.Cys194Tyr Uncertain significance Single submitter
- SELP p.Cys200Gly Uncertain significance Single submitter
- SELP p.Cys319Arg Uncertain significance Single submitter
- SELP p.Cys350Arg Uncertain significance Single submitter
- SELP p.Cys381Tyr Uncertain significance Single submitter
- SELP p.Cys399Arg Uncertain significance Single submitter
- SELP p.Gln225Arg Uncertain significance Single submitter
- SELP p.Gln525Arg Uncertain significance Single submitter
- SELP p.Gln580Arg Uncertain significance Single submitter
- SELP p.Gln641Pro Uncertain significance Single submitter
- SELP p.Gln691Lys Uncertain significance Single submitter
- SELP p.Glu579Lys Uncertain significance Single submitter
- SELP p.Gly233Arg Uncertain significance Single submitter
- SELP p.Gly395Arg Uncertain significance Single submitter
- SELP p.Gly605Ser Uncertain significance Single submitter
- SELP p.Gly789Trp Uncertain significance Single submitter
- SELP p.His277Asn Uncertain significance Single submitter
- SELP p.His599Arg Uncertain significance Single submitter
- SELP p.His708Pro Uncertain significance Single submitter
- SELP p.Ile178Met Uncertain significance Single submitter
- SELP p.Ile20Val Uncertain significance Single submitter
- SELP p.Ile679Thr Uncertain significance Single submitter
- SELP p.Ile729Val Uncertain significance Single submitter
- SELP p.Ile786Thr Uncertain significance Single submitter
- SELP p.Leu210Phe Uncertain significance Single submitter
- SELP p.Leu29Pro Uncertain significance Single submitter
- SELP p.Leu33Val Uncertain significance Single submitter
- SELP p.Leu707Val Uncertain significance Single submitter
- SELP p.Lys137Arg Uncertain significance Single submitter
- SELP p.Met421Ile Uncertain significance Single submitter
- SELP p.Pro142Leu Uncertain significance Single submitter
- SELP p.Pro142Thr Uncertain significance Single submitter
- SELP p.Pro388Leu Uncertain significance Single submitter
- SELP p.Pro502Ser Uncertain significance Single submitter
- SELP p.Pro549Ser Uncertain significance Single submitter
- SELP p.Pro828Leu Uncertain significance Single submitter
- SELP p.Ser27Asn Uncertain significance Single submitter
- SELP p.Ser331Gly Uncertain significance Single submitter
- SELP p.Ser472Leu Uncertain significance Single submitter
- SELP p.Ser500Phe Uncertain significance Single submitter
- SELP p.Ser582Arg Uncertain significance Single submitter
- SELP p.Thr160Ile Uncertain significance Single submitter
- SELP p.Thr380Asn Uncertain significance Single submitter
- SELP p.Thr43Ala Uncertain significance Single submitter
- SELP p.Thr522Ser Uncertain significance Single submitter
- SELP p.Thr617Lys Uncertain significance Single submitter
- SELP p.Thr767Ala Uncertain significance Single submitter
- SELP p.Trp250Arg Uncertain significance Single submitter
- SELP p.Trp312Gly Uncertain significance Single submitter
- SELP p.Tyr408Cys Uncertain significance Single submitter
- SELP p.Tyr78His Uncertain significance Single submitter
- SELP p.Val132Ala Uncertain significance Single submitter
- SELP p.Val132Met Uncertain significance Single submitter
- SELP p.Val360Leu Uncertain significance Single submitter
- SELP p.Val459Ala Uncertain significance Single submitter
- SELP p.Val524Ala Uncertain significance Single submitter
- SELP p.Val614Leu Uncertain significance Single submitter
- SELP p.Val758Leu Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- SELP p.Arg589Cys Uncertain significance Single submitter
- SELP p.Arg63Cys Uncertain significance Single submitter
- SELP p.Asp130Glu Uncertain significance Single submitter
- SELP p.Cys337Tyr Uncertain significance Single submitter
- SELP p.Cys655Tyr Uncertain significance Single submitter
- SELP p.Gly543Glu Uncertain significance Single submitter
- SELP p.Gly742Ser Uncertain significance Single submitter
- SELP p.Gly789Arg Uncertain significance Single submitter
- SELP p.Leu157Phe Uncertain significance Single submitter
- SELP p.Leu422Gln Uncertain significance Single submitter
- SELP p.Leu67Phe Uncertain significance Single submitter
- SELP p.Lys154Arg Uncertain significance Single submitter
- SELP p.Pro216Ser Uncertain significance Single submitter
- SELP p.Pro627Ala Uncertain significance Single submitter
- SELP p.Pro627Thr Uncertain significance Single submitter
- SELP p.Ser375Ala Uncertain significance Single submitter
- SELP p.Ser375Pro Uncertain significance Single submitter
- SELP p.Ser557Pro Uncertain significance Single submitter
- SELP p.Thr495Pro Uncertain significance Single submitter
- SELP p.Thr822Ile Uncertain significance Single submitter
All SELP variants
Likely pathogenic 1
- c.775+1G>A No assertion criteria Premature coronary artery atherosclerosis
Benign 13
- p.Asn128= Multiple submitters
- p.Asn673Ser Multiple submitters
- p.Ser619Ala Multiple submitters
- p.Thr274Ile Multiple submitters
- p.Thr767= Multiple submitters
- c.1334-3T>C Single submitter
- p.Thr756Pro Single submitter
- p.Asn604= No assertion criteria SELP-related disorder
- p.Asp603Asn No assertion criteria SELP-related disorder
- p.Cys598= No assertion criteria SELP-related disorder
- p.Ser331Asn No assertion criteria SELP-related disorder
- p.Thr782= No assertion criteria SELP-related disorder
- p.Val640Leu No assertion criteria RECLASSIFIED - SELP POLYMORPHISM
Likely benign 11
- p.Ala714Val Single submitter
- p.Arg367His Single submitter
- p.Arg415His Single submitter
- p.Arg429= Single submitter
- p.Arg458Gln Single submitter
- p.Asn673= Single submitter
- p.Gln641Arg Single submitter
- p.Gly784= Single submitter
- p.Lys241Glu Single submitter
- p.Met365Thr Single submitter
- p.Val524Ile Single submitter
Uncertain significance 98
- p.Ala246Val Single submitter ⚠
- p.Ala329Thr Single submitter ⚠
- p.Ala405Gly Single submitter ⚠
- p.Ala405Val Single submitter ⚠
- p.Ala674Ser Single submitter ⚠
- p.Ala674Thr Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Arg423Lys Single submitter ⚠
- p.Arg429Leu Single submitter ⚠
- p.Arg458Trp Single submitter ⚠
- p.Arg589Cys Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Asn272His Single submitter ⚠
- p.Asp130Glu Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Asp409Val Single submitter ⚠
- p.Asp426Asn Single submitter ⚠
- p.Cys194Tyr Single submitter ⚠
- p.Cys200Gly Single submitter ⚠
- p.Cys275Phe Single submitter
- p.Cys319Arg Single submitter ⚠
- p.Cys337Tyr Single submitter ⚠
- p.Cys350Arg Single submitter ⚠
- p.Cys381Tyr Single submitter ⚠
- p.Cys399Arg Single submitter ⚠
- p.Cys655Tyr Single submitter ⚠
- p.Gln225Arg Single submitter ⚠
- p.Gln525Arg Single submitter ⚠
- p.Gln580Arg Single submitter ⚠
- p.Gln641Pro Single submitter ⚠
- p.Gln691Lys Single submitter ⚠
- p.Glu456Ter Single submitter
- p.Glu579Lys Single submitter ⚠
- p.Gly233Arg Single submitter ⚠
- p.Gly248Glu Single submitter
- p.Gly395Arg Single submitter ⚠
- p.Gly543Glu Single submitter ⚠
- p.Gly605Ser Single submitter ⚠
- p.Gly680Glu Single submitter
- p.Gly742Ser Single submitter ⚠
- p.Gly789Arg Single submitter ⚠
- p.Gly789Trp Single submitter ⚠
- p.His277Asn Single submitter ⚠
- p.His599Arg Single submitter ⚠
- p.His708Pro Single submitter ⚠
- p.Ile178Met Single submitter ⚠
- p.Ile20Val Single submitter ⚠
- p.Ile679Thr Single submitter ⚠
- p.Ile729Val Single submitter ⚠
- p.Ile786Thr Single submitter ⚠
- p.Leu157Phe Single submitter ⚠
- p.Leu210Phe Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu33Val Single submitter ⚠
- p.Leu422Gln Single submitter ⚠
- p.Leu583Pro Single submitter
- p.Leu67Phe Single submitter ⚠
- p.Leu707Val Single submitter ⚠
- p.Lys137Arg Single submitter ⚠
- p.Lys154Arg Single submitter ⚠
- p.Met421Ile Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro142Thr Single submitter ⚠
- p.Pro216Ser Single submitter ⚠
- p.Pro388Leu Single submitter ⚠
- p.Pro502Ser Single submitter ⚠
- p.Pro549Ser Single submitter ⚠
- p.Pro627Ala Single submitter ⚠
- p.Pro627Thr Single submitter ⚠
- p.Pro828Leu Single submitter ⚠
- p.Ser27Asn Single submitter ⚠
- p.Ser331Gly Single submitter ⚠
- p.Ser375Ala Single submitter ⚠
- p.Ser375Pro Single submitter ⚠
- p.Ser472Leu Single submitter ⚠
- p.Ser500Phe Single submitter ⚠
- p.Ser557Pro Single submitter ⚠
- p.Ser582Arg Single submitter ⚠
- p.Ser743Cys Single submitter
- p.Thr160Ile Single submitter ⚠
- p.Thr380Asn Single submitter ⚠
- p.Thr43Ala Single submitter ⚠
- p.Thr495Pro Single submitter ⚠
- p.Thr522Ser Single submitter ⚠
- p.Thr617Lys Single submitter ⚠
- p.Thr767Ala Single submitter ⚠
- p.Thr822Ile Single submitter ⚠
- p.Trp250Arg Single submitter ⚠
- p.Trp312Gly Single submitter ⚠
- p.Tyr408Cys Single submitter ⚠
- p.Tyr78His Single submitter ⚠
- p.Val132Ala Single submitter ⚠
- p.Val132Met Single submitter ⚠
- p.Val360Leu Single submitter ⚠
- p.Val459Ala Single submitter ⚠
- p.Val524Ala Single submitter ⚠
- p.Val614Leu Single submitter ⚠
- p.Val758Leu Single submitter ⚠