ELL — 102 ClinVar variants
All ClinVar germline ELL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
2 Benign · 9 Likely benign · 91 Uncertain significance
Full ELL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELL p.Ala237Gly Uncertain significance Single submitter
- ELL p.Ala348Val Uncertain significance Single submitter
- ELL p.Ala420Thr Uncertain significance Single submitter
- ELL p.Ala43Val Uncertain significance Single submitter
- ELL p.Ala555Thr Uncertain significance Single submitter
- ELL p.Ala72Ser Uncertain significance Single submitter
- ELL p.Arg178Gln Uncertain significance Single submitter
- ELL p.Arg362Cys Uncertain significance Single submitter
- ELL p.Arg392Lys Uncertain significance Single submitter
- ELL p.Arg42Gly Uncertain significance Single submitter
- ELL p.Arg438Gly Uncertain significance Single submitter
- ELL p.Arg460Lys Uncertain significance Single submitter
- ELL p.Arg467Gln Uncertain significance Single submitter
- ELL p.Arg467Leu Uncertain significance Single submitter
- ELL p.Arg522Cys Uncertain significance Single submitter
- ELL p.Arg8Gly Uncertain significance Single submitter
- ELL p.Asn402Asp Uncertain significance Single submitter
- ELL p.Asn587Ser Uncertain significance Single submitter
- ELL p.Asp332Asn Uncertain significance Single submitter
- ELL p.Asp464Glu Uncertain significance Single submitter
- ELL p.Asp7Asn Uncertain significance Single submitter
- ELL p.Asp7Gly Uncertain significance Single submitter
- ELL p.Cys293Ser Uncertain significance Single submitter
- ELL p.Gln349Lys Uncertain significance Single submitter
- ELL p.Gln435Arg Uncertain significance Single submitter
- ELL p.Gly201Arg Uncertain significance Single submitter
- ELL p.Gly257Ser Uncertain significance Single submitter
- ELL p.Gly426Ala Uncertain significance Single submitter
- ELL p.Gly482Arg Uncertain significance Single submitter
- ELL p.Gly572Arg Uncertain significance Single submitter
- ELL p.Ile188Val Uncertain significance Single submitter
- ELL p.Ile341Met Uncertain significance Single submitter
- ELL p.Ile546Val Uncertain significance Single submitter
- ELL p.Ile63Val Uncertain significance Single submitter
- ELL p.Leu12Arg Uncertain significance Single submitter
- ELL p.Lys222Asn Uncertain significance Single submitter
- ELL p.Lys239Arg Uncertain significance Single submitter
- ELL p.Lys267Arg Uncertain significance Single submitter
- ELL p.Lys456Arg Uncertain significance Single submitter
- ELL p.Lys5Arg Uncertain significance Single submitter
- ELL p.Pro327Leu Uncertain significance Single submitter
- ELL p.Pro386Leu Uncertain significance Single submitter
- ELL p.Pro391Leu Uncertain significance Single submitter
- ELL p.Pro391Ser Uncertain significance Single submitter
- ELL p.Pro421Ser Uncertain significance Single submitter
- ELL p.Pro52Leu Uncertain significance Single submitter
- ELL p.Pro66Ser Uncertain significance Single submitter
- ELL p.Ser9Gly Uncertain significance Single submitter
- ELL p.Thr493Ile Uncertain significance Single submitter
- ELL p.Thr501Arg Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
- ELL p.Ala172Val Uncertain significance Single submitter
- ELL p.Ala237Val Uncertain significance Single submitter
- ELL p.Ala241Val Uncertain significance Single submitter
- ELL p.Ala461Val Uncertain significance Single submitter
- ELL p.Arg178Trp Uncertain significance Single submitter
- ELL p.Arg208Cys Uncertain significance Single submitter
- ELL p.Arg221Cys Uncertain significance Single submitter
- ELL p.Arg314Cys Uncertain significance Single submitter
- ELL p.Arg314His Likely benign Single submitter
- ELL p.Arg324Trp Uncertain significance Single submitter
- ELL p.Arg387Trp Uncertain significance Single submitter
- ELL p.Arg460Trp Uncertain significance Single submitter
- ELL p.Arg545Cys Uncertain significance Single submitter
- ELL p.Arg548Trp Uncertain significance Single submitter
- ELL p.Arg558Trp Uncertain significance Single submitter
- ELL p.Asn353Ser Uncertain significance Single submitter
- ELL p.Asn491Lys Uncertain significance Single submitter
- ELL p.Asn83Ser Uncertain significance Single submitter
- ELL p.Asn88Lys Uncertain significance Single submitter
- ELL p.Asp124Asn Uncertain significance Single submitter
- ELL p.Asp554Asn Uncertain significance Single submitter
- ELL p.Cys110Tyr Uncertain significance Single submitter
- ELL p.Gln282Glu Uncertain significance Single submitter
- ELL p.Glu105Asp Likely benign Single submitter
- ELL p.Glu565Gly Uncertain significance Single submitter
- ELL p.Gly15Glu Uncertain significance Single submitter
- ELL p.Gly20Cys Uncertain significance Single submitter
- ELL p.His406Tyr Uncertain significance Single submitter
- ELL p.Lys449Gln Uncertain significance Single submitter
- ELL p.Lys5Asn Uncertain significance Single submitter
- ELL p.Pro350Leu Uncertain significance Single submitter
- ELL p.Pro369Leu Uncertain significance Single submitter
- ELL p.Pro71Ser Uncertain significance Single submitter
- ELL p.Ser133Asn Uncertain significance Single submitter
- ELL p.Ser319Trp Uncertain significance Single submitter
- ELL p.Ser380Phe Uncertain significance Single submitter
- ELL p.Ser64Phe Uncertain significance Single submitter
- ELL p.Ser92Ile Uncertain significance Single submitter
- ELL p.Thr368Ile Uncertain significance Single submitter
- ELL p.Thr431Met Uncertain significance Single submitter
- ELL p.Thr76Met Uncertain significance Single submitter
- ELL p.Val25Met Uncertain significance Single submitter
- ELL p.Val287Leu Uncertain significance Single submitter
- ELL p.Val358Met Likely benign Single submitter
All ELL variants
Benign 2
- p.Leu427= Multiple submitters
- p.Ser297Asn Multiple submitters
Likely benign 9
- p.Ala72Thr Single submitter
- p.Arg314His Single submitter ⚠
- p.Arg424Cys Single submitter
- p.Glu105Asp Single submitter ⚠
- p.Gly426Ser Single submitter
- p.Pro481Leu Single submitter
- p.Ser374Gly Single submitter
- p.Thr487Ala Single submitter
- p.Val358Met Single submitter ⚠
Uncertain significance 91
- p.Ala172Val Single submitter ⚠
- p.Ala237Gly Single submitter ⚠
- p.Ala237Val Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala348Val Single submitter ⚠
- p.Ala420Thr Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala461Val Single submitter ⚠
- p.Ala555Thr Single submitter ⚠
- p.Ala72Ser Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg324Trp Single submitter ⚠
- p.Arg362Cys Single submitter ⚠
- p.Arg387Trp Single submitter ⚠
- p.Arg392Lys Single submitter ⚠
- p.Arg42Gly Single submitter ⚠
- p.Arg438Gly Single submitter ⚠
- p.Arg460Lys Single submitter ⚠
- p.Arg460Trp Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg467Leu Single submitter ⚠
- p.Arg522Cys Single submitter ⚠
- p.Arg545Cys Single submitter ⚠
- p.Arg548Trp Single submitter ⚠
- p.Arg558Trp Single submitter ⚠
- p.Arg8Gly Single submitter ⚠
- p.Asn353Ser Single submitter ⚠
- p.Asn402Asp Single submitter ⚠
- p.Asn491Lys Single submitter ⚠
- p.Asn587Ser Single submitter ⚠
- p.Asn83Ser Single submitter ⚠
- p.Asn88Lys Single submitter ⚠
- p.Asp124Asn Single submitter ⚠
- p.Asp332Asn Single submitter ⚠
- p.Asp464Glu Single submitter ⚠
- p.Asp554Asn Single submitter ⚠
- p.Asp7Asn Single submitter ⚠
- p.Asp7Gly Single submitter ⚠
- p.Cys110Tyr Single submitter ⚠
- p.Cys293Ser Single submitter ⚠
- p.Gln282Glu Single submitter ⚠
- p.Gln349Lys Single submitter ⚠
- p.Gln435Arg Single submitter ⚠
- p.Glu565Gly Single submitter ⚠
- p.Gly15Glu Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly20Cys Single submitter ⚠
- p.Gly257Ser Single submitter ⚠
- p.Gly426Ala Single submitter ⚠
- p.Gly482Arg Single submitter ⚠
- p.Gly572Arg Single submitter ⚠
- p.His406Tyr Single submitter ⚠
- p.Ile188Val Single submitter ⚠
- p.Ile341Met Single submitter ⚠
- p.Ile546Val Single submitter ⚠
- p.Ile63Val Single submitter ⚠
- p.Leu12Arg Single submitter ⚠
- p.Lys222Asn Single submitter ⚠
- p.Lys239Arg Single submitter ⚠
- p.Lys267Arg Single submitter ⚠
- p.Lys449Gln Single submitter ⚠
- p.Lys456Arg Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys5Asn Single submitter ⚠
- p.Pro327Leu Single submitter ⚠
- p.Pro350Leu Single submitter ⚠
- p.Pro369Leu Single submitter ⚠
- p.Pro386Leu Single submitter ⚠
- p.Pro391Leu Single submitter ⚠
- p.Pro391Ser Single submitter ⚠
- p.Pro421Ser Single submitter ⚠
- p.Pro52Leu Single submitter ⚠
- p.Pro66Ser Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Ser133Asn Single submitter ⚠
- p.Ser319Trp Single submitter ⚠
- p.Ser380Phe Single submitter ⚠
- p.Ser64Phe Single submitter ⚠
- p.Ser92Ile Single submitter ⚠
- p.Ser9Gly Single submitter ⚠
- p.Thr368Ile Single submitter ⚠
- p.Thr431Met Single submitter ⚠
- p.Thr493Ile Single submitter ⚠
- p.Thr501Arg Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Val25Met Single submitter ⚠
- p.Val287Leu Single submitter ⚠