ELP6 — 46 ClinVar variants
All ClinVar germline ELP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Likely pathogenic · 1 Benign · 8 Likely benign · 36 Uncertain significance
Full ELP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELP6 p.Arg135Pro Uncertain significance Single submitter
- ELP6 p.Arg209Gln Uncertain significance Single submitter
- ELP6 p.Arg76Gln Uncertain significance Single submitter
- ELP6 p.Asn177Thr Uncertain significance Single submitter
- ELP6 p.Asn193Ser Uncertain significance Single submitter
- ELP6 p.Asp194Asn Uncertain significance Single submitter
- ELP6 p.Cys171Arg Uncertain significance Single submitter
- ELP6 p.Glu133Ala Uncertain significance Single submitter
- ELP6 p.Gly199Ser Uncertain significance Single submitter
- ELP6 p.Ile249Thr Uncertain significance Single submitter
- ELP6 p.Leu34His Uncertain significance Single submitter
- ELP6 p.Lys248Glu Uncertain significance Single submitter
- ELP6 p.Met154Ile Uncertain significance Single submitter
- ELP6 p.Ser233Leu Uncertain significance Single submitter
- ELP6 p.Ser89Cys Uncertain significance Single submitter
- ELP6 p.Thr11Ser Uncertain significance Single submitter
- ELP6 p.Thr137Met Uncertain significance Single submitter
- ELP6 p.Tyr138Ser Uncertain significance Single submitter
- ELP6 p.Val70Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ELP6 p.Val35Ala Uncertain significance Multiple submitters
- ELP6 p.Ala188Gly Uncertain significance Single submitter
- ELP6 p.Arg123Trp Uncertain significance Single submitter
- ELP6 p.Arg135Trp Uncertain significance Single submitter
- ELP6 p.Arg78His Uncertain significance Single submitter
- ELP6 p.Asn193Asp Uncertain significance Single submitter
- ELP6 p.Asp190Asn Uncertain significance Single submitter
- ELP6 p.Glu189Gln Uncertain significance Single submitter
- ELP6 p.Glu77Lys Uncertain significance Single submitter
- ELP6 p.Gly65Arg Uncertain significance Single submitter
- ELP6 p.Leu181Phe Uncertain significance Single submitter
- ELP6 p.Leu9Val Uncertain significance Single submitter
- ELP6 p.Met261Ile Uncertain significance Single submitter
- ELP6 p.Phe2Leu Uncertain significance Single submitter
- ELP6 p.Pro139Ser Uncertain significance Single submitter
- ELP6 p.Ser59Asn Uncertain significance Single submitter
- ELP6 p.Val254Met Uncertain significance Single submitter
All ELP6 variants
Likely pathogenic 1
- p.Leu118Trp No assertion criteria
Benign 1
- c.672+9G>A Single submitter
Likely benign 8
- p.Ala188Val Single submitter
- p.Ala236Thr Single submitter
- p.Ala97Thr Single submitter
- p.Arg123Gln Single submitter
- p.Met178Val Single submitter
- p.Met74Val Single submitter
- p.Ser62Asn Single submitter
- p.Tyr138Cys Single submitter
Uncertain significance 36
- p.Val35Ala Multiple submitters ⚠
- p.Ala188Gly Single submitter ⚠
- p.Arg123Trp Single submitter ⚠
- p.Arg135Pro Single submitter ⚠
- p.Arg135Trp Single submitter ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Asn177Thr Single submitter ⚠
- p.Asn193Asp Single submitter ⚠
- p.Asn193Ser Single submitter ⚠
- p.Asp190Asn Single submitter ⚠
- p.Asp194Asn Single submitter ⚠
- p.Cys171Arg Single submitter ⚠
- p.Glu133Ala Single submitter ⚠
- p.Glu189Gln Single submitter ⚠
- p.Glu77Lys Single submitter ⚠
- p.Gly199Ser Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.Ile249Thr Single submitter ⚠
- p.Leu181Phe Single submitter ⚠
- p.Leu34His Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Lys248Glu Single submitter ⚠
- p.Met154Ile Single submitter ⚠
- p.Met261Ile Single submitter ⚠
- p.Phe2Leu Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Ser233Leu Single submitter ⚠
- p.Ser59Asn Single submitter ⚠
- p.Ser89Cys Single submitter ⚠
- p.Thr11Ser Single submitter ⚠
- p.Thr137Met Single submitter ⚠
- p.Tyr138Ser Single submitter ⚠
- p.Val254Met Single submitter ⚠
- p.Val70Ile Single submitter ⚠