ELAPOR1 — 152 ClinVar variants

All ClinVar germline ELAPOR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

2 Benign · 2 Likely benign · 148 Uncertain significance

Full ELAPOR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 91

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 57

The independent predictors disagree with each other — read with care.

All ELAPOR1 variants

Benign 2

p.Gly644= Multiple submitters
p.Val718= Multiple submitters

Likely benign 2

p.Ala561Thr Single submitter
p.Asp144Glu Single submitter

Uncertain significance 148

p.Ala167Thr Single submitter ⚠
p.Ala180Val Single submitter ⚠
p.Ala297Gly Single submitter ⚠
p.Ala2Ser Single submitter ⚠
p.Ala341Val Single submitter ⚠
p.Ala561Ser Single submitter ⚠
p.Ala629Val Single submitter ⚠
p.Ala782Gly Single submitter ⚠
p.Ala958Thr Single submitter ⚠
p.Ala97Thr Single submitter ⚠
p.Arg115Cys Single submitter ⚠
p.Arg115His Single submitter ⚠
p.Arg123Gln Single submitter ⚠
p.Arg21Gly Single submitter ⚠
p.Arg21Leu Single submitter ⚠
p.Arg237Gln Single submitter ⚠
p.Arg24Trp Single submitter ⚠
p.Arg27Gly Single submitter ⚠
p.Arg589His Single submitter ⚠
p.Arg613Gln Single submitter ⚠
p.Arg722Gln Single submitter ⚠
p.Arg765Gln Single submitter ⚠
p.Arg817Cys Single submitter ⚠
p.Arg817His Single submitter ⚠
p.Arg883Gln Single submitter ⚠
p.Asn153Lys Single submitter ⚠
p.Asn208Ser Single submitter ⚠
p.Asn214Ser Single submitter ⚠
p.Asn345Ser Single submitter ⚠
p.Asn390Lys Single submitter ⚠
p.Asn391Ser Single submitter ⚠
p.Asn442Ser Single submitter ⚠
p.Asn567Ser Single submitter ⚠
p.Asp1012Glu Single submitter ⚠
p.Asp145Val Single submitter ⚠
p.Asp164Asn Single submitter ⚠
p.Asp343Asn Single submitter ⚠
p.Asp597His Single submitter ⚠
p.Asp612Tyr Single submitter ⚠
p.Asp62Gly Single submitter ⚠
p.Asp716Asn Single submitter ⚠
p.Asp959Tyr Single submitter ⚠
p.Cys111Arg Single submitter ⚠
p.Cys739Tyr Single submitter ⚠
p.Cys91Gly Single submitter ⚠
p.Gln37Arg Single submitter ⚠
p.Gln631Pro Single submitter ⚠
p.Glu129Val Single submitter ⚠
p.Glu234Gly Single submitter ⚠
p.Glu234Val Single submitter ⚠
p.Glu365Asp Single submitter ⚠
p.Glu365Lys Single submitter ⚠
p.Glu3Ala Single submitter ⚠
p.Glu851Asp Single submitter ⚠
p.Glu896Lys Single submitter ⚠
p.Glu90Lys Single submitter ⚠
p.Gly152Arg Single submitter ⚠
p.Gly366Arg Single submitter ⚠
p.Gly366Glu Single submitter ⚠
p.Gly400Cys Single submitter ⚠
p.Gly414Ala Single submitter ⚠
p.Gly530Asp Single submitter ⚠
p.Gly530Ser Single submitter ⚠
p.Gly599Val Single submitter ⚠
p.Gly754Arg Single submitter ⚠
p.Gly874Glu Single submitter ⚠
p.His231Tyr Single submitter ⚠
p.His309Gln Single submitter ⚠
p.His339Pro Single submitter ⚠
p.His378Pro Single submitter ⚠
p.His559Pro Single submitter ⚠
p.His651Tyr Single submitter ⚠
p.His865Arg Single submitter ⚠
p.His9Tyr Single submitter ⚠
p.Ile166Met Single submitter ⚠
p.Ile22Lys Single submitter ⚠
p.Ile359Ser Single submitter ⚠
p.Ile767Thr Single submitter ⚠
p.Ile974Leu Single submitter ⚠
p.Leu294Arg Single submitter ⚠
p.Leu364Pro Single submitter ⚠
p.Leu474Val Single submitter ⚠
p.Leu849Arg Single submitter ⚠
p.Lys158Arg Single submitter ⚠
p.Lys158Glu Single submitter ⚠
p.Lys158Met Single submitter ⚠
p.Lys257Asn Single submitter ⚠
p.Lys319Arg Single submitter ⚠
p.Met141Ile Single submitter ⚠
p.Met178Thr Single submitter ⚠
p.Pro357Leu Single submitter ⚠
p.Pro398Ser Single submitter ⚠
p.Pro477Ala Single submitter ⚠
p.Pro482Leu Single submitter ⚠
p.Pro73Arg Single submitter ⚠
p.Pro73Leu Single submitter ⚠
p.Pro745Ser Single submitter ⚠
p.Pro746Leu Single submitter ⚠
p.Pro793Leu Single submitter ⚠
p.Pro827Ser Single submitter ⚠
p.Ser117Cys Single submitter ⚠
p.Ser199Asn Single submitter ⚠
p.Ser403Tyr Single submitter ⚠
p.Ser52Thr Single submitter ⚠
p.Ser548Asn Single submitter ⚠
p.Ser562Arg Single submitter ⚠
p.Ser600Phe Single submitter ⚠
p.Ser66Ala Single submitter ⚠
p.Ser674Phe Single submitter ⚠
p.Ser81Arg Single submitter ⚠
p.Ser837Leu Single submitter ⚠
p.Ser852Arg Single submitter ⚠
p.Ser92Cys Single submitter ⚠
p.Ser92Tyr Single submitter ⚠
p.Ser980Leu Single submitter ⚠
p.Thr170Met Single submitter ⚠
p.Thr188Ile Single submitter ⚠
p.Thr282Met Single submitter ⚠
p.Thr282Ser Single submitter ⚠
p.Thr306Ala Single submitter ⚠
p.Thr340Met Single submitter ⚠
p.Thr428Met Single submitter ⚠
p.Thr435Met Single submitter ⚠
p.Thr436Ala Single submitter ⚠
p.Thr460Ala Single submitter ⚠
p.Thr503Ala Single submitter ⚠
p.Thr527Met Single submitter ⚠
p.Thr625Arg Single submitter ⚠
p.Thr64Ala Single submitter ⚠
p.Thr64Met Single submitter ⚠
p.Thr679Ala Single submitter ⚠
p.Thr715Ile Single submitter ⚠
p.Thr719Ser Single submitter ⚠
p.Thr835Met Single submitter ⚠
p.Thr917Ile Single submitter ⚠
p.Thr919Ile Single submitter ⚠
p.Tyr423His Single submitter ⚠
p.Tyr573Cys Single submitter ⚠
p.Tyr695Phe Single submitter ⚠
p.Val160Phe Single submitter ⚠
p.Val500Phe Single submitter ⚠
p.Val738Ile Single submitter ⚠
p.Val769Leu Single submitter ⚠
p.Val795Met Single submitter ⚠
p.Val818Ile Single submitter ⚠
p.Val818Leu Single submitter ⚠
p.Val881Met Single submitter ⚠
p.Val925Ile Single submitter ⚠