ELL2 — 64 ClinVar variants
All ClinVar germline ELL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
3 Benign · 5 Likely benign · 56 Uncertain significance
Full ELL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELL2 p.Ala218Pro Uncertain significance Single submitter
- ELL2 p.Ala38Val Uncertain significance Single submitter
- ELL2 p.Arg167Pro Uncertain significance Single submitter
- ELL2 p.Arg180Thr Uncertain significance Single submitter
- ELL2 p.Arg193Gln Uncertain significance Single submitter
- ELL2 p.Arg281Gln Uncertain significance Single submitter
- ELL2 p.Arg311Gly Uncertain significance Single submitter
- ELL2 p.Asn26Ser Uncertain significance Single submitter
- ELL2 p.Asn76Ser Uncertain significance Single submitter
- ELL2 p.Asp419Asn Uncertain significance Single submitter
- ELL2 p.Asp489Glu Uncertain significance Single submitter
- ELL2 p.Glu423Lys Uncertain significance Single submitter
- ELL2 p.Glu488Lys Uncertain significance Single submitter
- ELL2 p.Gly156Ser Uncertain significance Single submitter
- ELL2 p.Gly4Ala Uncertain significance Single submitter
- ELL2 p.Ile153Phe Uncertain significance Single submitter
- ELL2 p.Ile372Leu Uncertain significance Single submitter
- ELL2 p.Ile533Val Uncertain significance Single submitter
- ELL2 p.Leu445Ile Uncertain significance Single submitter
- ELL2 p.Lys358Asn Uncertain significance Single submitter
- ELL2 p.Lys498Arg Uncertain significance Single submitter
- ELL2 p.Lys49Arg Uncertain significance Single submitter
- ELL2 p.Lys584Glu Uncertain significance Single submitter
- ELL2 p.Pro354Thr Uncertain significance Single submitter
- ELL2 p.Pro367Ala Uncertain significance Single submitter
- ELL2 p.Pro367Ser Uncertain significance Single submitter
- ELL2 p.Pro377Leu Uncertain significance Single submitter
- ELL2 p.Ser310Asn Uncertain significance Single submitter
- ELL2 p.Ser315Pro Uncertain significance Single submitter
- ELL2 p.Thr430Asn Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- ELL2 p.Ile58Val Likely benign Multiple submitters
- ELL2 p.Arg135Gln Uncertain significance Single submitter
- ELL2 p.Arg281Trp Uncertain significance Single submitter
- ELL2 p.Arg302Cys Uncertain significance Single submitter
- ELL2 p.Arg320Trp Uncertain significance Single submitter
- ELL2 p.Arg405Trp Uncertain significance Single submitter
- ELL2 p.Arg561Ser Uncertain significance Single submitter
- ELL2 p.Arg578Leu Uncertain significance Single submitter
- ELL2 p.Asp175Tyr Uncertain significance Single submitter
- ELL2 p.Gln235Pro Uncertain significance Single submitter
- ELL2 p.Gln542His Uncertain significance Single submitter
- ELL2 p.Gln634Pro Uncertain significance Single submitter
- ELL2 p.Leu17Met Uncertain significance Single submitter
- ELL2 p.Leu363Phe Uncertain significance Single submitter
- ELL2 p.Leu75Phe Uncertain significance Single submitter
- ELL2 p.Lys230Gln Uncertain significance Single submitter
- ELL2 p.Lys33Arg Uncertain significance Single submitter
- ELL2 p.Lys460Glu Uncertain significance Single submitter
- ELL2 p.Lys470Thr Uncertain significance Single submitter
- ELL2 p.Lys584Asn Uncertain significance Single submitter
- ELL2 p.Pro293Leu Uncertain significance Single submitter
- ELL2 p.Pro440Arg Uncertain significance Single submitter
- ELL2 p.Ser106Cys Uncertain significance Single submitter
- ELL2 p.Ser149Ile Uncertain significance Single submitter
- ELL2 p.Ser257Leu Uncertain significance Single submitter
- ELL2 p.Ser309Cys Uncertain significance Single submitter
- ELL2 p.Thr407Ile Uncertain significance Single submitter
All ELL2 variants
Benign 3
- c.196-10307C>T Single submitter
- c.196-4613G>A Single submitter
- c.317+2020G>C Single submitter
Likely benign 5
- p.Ile58Val Multiple submitters ⚠
- p.Arg626= Single submitter
- p.Gly299Ser Single submitter
- p.Ile385Val Single submitter
- p.Ser507Asn Single submitter
Uncertain significance 56
- p.Ala218Pro Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Arg135Gln Single submitter ⚠
- p.Arg167Pro Single submitter ⚠
- p.Arg180Thr Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg311Gly Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg405Trp Single submitter ⚠
- p.Arg561Ser Single submitter ⚠
- p.Arg578Leu Single submitter ⚠
- p.Asn26Ser Single submitter ⚠
- p.Asn76Ser Single submitter ⚠
- p.Asp175Tyr Single submitter ⚠
- p.Asp419Asn Single submitter ⚠
- p.Asp489Glu Single submitter ⚠
- p.Gln235Pro Single submitter ⚠
- p.Gln542His Single submitter ⚠
- p.Gln634Pro Single submitter ⚠
- p.Glu423Lys Single submitter ⚠
- p.Glu488Lys Single submitter ⚠
- p.Gly156Ser Single submitter ⚠
- p.Gly4Ala Single submitter ⚠
- p.Ile153Phe Single submitter ⚠
- p.Ile372Leu Single submitter ⚠
- p.Ile533Val Single submitter ⚠
- p.Leu17Met Single submitter ⚠
- p.Leu363Phe Single submitter ⚠
- p.Leu445Ile Single submitter ⚠
- p.Leu75Phe Single submitter ⚠
- p.Lys230Gln Single submitter ⚠
- p.Lys33Arg Single submitter ⚠
- p.Lys358Asn Single submitter ⚠
- p.Lys460Glu Single submitter ⚠
- p.Lys470Thr Single submitter ⚠
- p.Lys498Arg Single submitter ⚠
- p.Lys49Arg Single submitter ⚠
- p.Lys584Asn Single submitter ⚠
- p.Lys584Glu Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro354Thr Single submitter ⚠
- p.Pro367Ala Single submitter ⚠
- p.Pro367Ser Single submitter ⚠
- p.Pro377Leu Single submitter ⚠
- p.Pro440Arg Single submitter ⚠
- p.Ser106Cys Single submitter ⚠
- p.Ser149Ile Single submitter ⚠
- p.Ser257Leu Single submitter ⚠
- p.Ser309Cys Single submitter ⚠
- p.Ser310Asn Single submitter ⚠
- p.Ser315Pro Single submitter ⚠
- p.Thr407Ile Single submitter ⚠
- p.Thr430Asn Single submitter ⚠