ELAPOR2 — 142 ClinVar variants

All ClinVar germline ELAPOR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

3 Likely benign · 139 Uncertain significance

Full ELAPOR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 89

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

Predictors split 50

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

All ELAPOR2 variants

Likely benign 3

p.Ala823Thr Single submitter
p.Ala919Ser Single submitter
p.Ile556Val Single submitter

Uncertain significance 139

p.Ala270Thr Single submitter ⚠
p.Ala270Val Single submitter ⚠
p.Ala744Glu Single submitter ⚠
p.Ala773Pro Single submitter ⚠
p.Ala834Thr Single submitter ⚠
p.Ala857Val Single submitter ⚠
p.Ala919Val Single submitter ⚠
p.Ala976Val Single submitter ⚠
p.Arg175His Single submitter ⚠
p.Arg343Cys Single submitter ⚠
p.Arg605Cys Single submitter ⚠
p.Arg831Gln Single submitter ⚠
p.Asn405Lys Single submitter ⚠
p.Asn456Asp Single submitter ⚠
p.Asn490Ser Single submitter ⚠
p.Asn663His Single submitter ⚠
p.Asn664Ser Single submitter ⚠
p.Asn700Asp Single submitter ⚠
p.Asn798Ser Single submitter ⚠
p.Asn988Ile Single submitter ⚠
p.Asn996Ser Single submitter ⚠
p.Asp140Val Single submitter ⚠
p.Asp210Asn Single submitter ⚠
p.Asp228His Single submitter ⚠
p.Asp329Asn Single submitter ⚠
p.Asp483Tyr Single submitter ⚠
p.Asp640Asn Single submitter ⚠
p.Asp925Asn Single submitter ⚠
p.Gln1020His Single submitter ⚠
p.Gln225Arg Single submitter ⚠
p.Glu19Ala Single submitter ⚠
p.Glu289Gln Single submitter ⚠
p.Glu424Ala Single submitter ⚠
p.Glu612Ala Single submitter ⚠
p.Glu801Gln Single submitter ⚠
p.Glu887Ala Single submitter ⚠
p.Gly166Ala Single submitter ⚠
p.Gly241Val Single submitter ⚠
p.Gly244Ser Single submitter ⚠
p.Gly416Glu Single submitter ⚠
p.Gly467Asp Single submitter ⚠
p.Gly472Glu Single submitter ⚠
p.Gly480Ala Single submitter ⚠
p.Gly504Val Single submitter ⚠
p.Gly575Ser Single submitter ⚠
p.Gly610Ser Single submitter ⚠
p.Gly745Arg Single submitter ⚠
p.Gly754Ala Single submitter ⚠
p.Gly845Ala Single submitter ⚠
p.Gly858Cys Single submitter ⚠
p.Gly888Arg Single submitter ⚠
p.Gly888Glu Single submitter ⚠
p.His1015Tyr Single submitter ⚠
p.His246Tyr Single submitter ⚠
p.His713Asn Single submitter ⚠
p.His815Arg Single submitter ⚠
p.His884Gln Single submitter ⚠
p.Ile1029Val Single submitter ⚠
p.Ile173Met Single submitter ⚠
p.Ile281Val Single submitter ⚠
p.Ile324Val Single submitter ⚠
p.Ile488Val Single submitter ⚠
p.Ile786Met Single submitter ⚠
p.Ile786Val Single submitter ⚠
p.Ile799Val Single submitter ⚠
p.Ile811Val Single submitter ⚠
p.Leu520Phe Single submitter ⚠
p.Leu527Met Single submitter ⚠
p.Lys197Arg Single submitter ⚠
p.Lys327Glu Single submitter ⚠
p.Lys461Glu Single submitter ⚠
p.Lys461Met Single submitter ⚠
p.Lys497Gln Single submitter ⚠
p.Lys970Ile Single submitter ⚠
p.Lys997Glu Single submitter ⚠
p.Met153Thr Single submitter ⚠
p.Met249Thr Single submitter ⚠
p.Met367Thr Single submitter ⚠
p.Met502Val Single submitter ⚠
p.Met965Thr Single submitter ⚠
p.Phe214Cys Single submitter ⚠
p.Phe215Ser Single submitter ⚠
p.Phe496Leu Single submitter ⚠
p.Phe675Leu Single submitter ⚠
p.Phe737Val Single submitter ⚠
p.Phe816Leu Single submitter ⚠
p.Phe894Leu Single submitter ⚠
p.Pro387Ser Single submitter ⚠
p.Pro396Leu Single submitter ⚠
p.Pro427Ser Single submitter ⚠
p.Pro494Leu Single submitter ⚠
p.Pro639Ser Single submitter ⚠
p.Pro975Leu Single submitter ⚠
p.Ser1024Leu Single submitter ⚠
p.Ser109Phe Single submitter ⚠
p.Ser338Asn Single submitter ⚠
p.Ser477Asn Single submitter ⚠
p.Ser522Leu Single submitter ⚠
p.Ser603Leu Single submitter ⚠
p.Ser614Leu Single submitter ⚠
p.Ser617Leu Single submitter ⚠
p.Ser644Ala Single submitter ⚠
p.Ser78Phe Single submitter ⚠
p.Ser850Thr Single submitter ⚠
p.Ser912Tyr Single submitter ⚠
p.Ser969Pro Single submitter ⚠
p.Thr230Ser Single submitter ⚠
p.Thr231Ile Single submitter ⚠
p.Thr348Ala Single submitter ⚠
p.Thr432Arg Single submitter ⚠
p.Thr500Ile Single submitter ⚠
p.Thr731Asn Single submitter ⚠
p.Thr864Met Single submitter ⚠
p.Thr879Met Single submitter ⚠
p.Thr923Met Single submitter ⚠
p.Thr946Ser Single submitter ⚠
p.Thr966Ala Single submitter ⚠
p.Thr966Met Single submitter ⚠
p.Thr967Ala Single submitter ⚠
p.Trp370Arg Single submitter ⚠
p.Trp950Leu Single submitter ⚠
p.Tyr201Ser Single submitter ⚠
p.Tyr351Cys Single submitter ⚠
p.Tyr403Cys Single submitter ⚠
p.Tyr528His Single submitter ⚠
p.Tyr589Phe Single submitter ⚠
p.Tyr649Cys Single submitter ⚠
p.Val156Met Single submitter ⚠
p.Val284Leu Single submitter ⚠
p.Val516Leu Single submitter ⚠
p.Val586Gly Single submitter ⚠
p.Val597Ile Single submitter ⚠
p.Val753Ile Single submitter ⚠
p.Val753Leu Single submitter ⚠
p.Val790Ala Single submitter ⚠
p.Val848Met Single submitter ⚠
p.Val924Ala Single submitter ⚠
p.Val924Ile Single submitter ⚠
p.Val964Ile Single submitter ⚠