ENAH — 67 ClinVar variants
All ClinVar germline ENAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
3 Benign · 5 Likely benign · 59 Uncertain significance
Full ENAH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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.
- ENAH p.Ala393Val Uncertain significance Single submitter
- ENAH p.Arg406Trp Uncertain significance Single submitter
- ENAH p.Asn278Ser Uncertain significance Single submitter
- ENAH p.Asn422Thr Uncertain significance Single submitter
- ENAH p.Asn98Ser Uncertain significance Single submitter
- ENAH p.Gln304Glu Uncertain significance Single submitter
- ENAH p.Gln325Leu Uncertain significance Single submitter
- ENAH p.Gly309Val Uncertain significance Single submitter
- ENAH p.Ile465Thr Uncertain significance Single submitter
- ENAH p.Lys473Gln Uncertain significance Single submitter
- ENAH p.Met104Val Uncertain significance Single submitter
- ENAH p.Pro301Ala Uncertain significance Single submitter
- ENAH p.Pro310Ser Uncertain significance Single submitter
- ENAH p.Pro316Ala Uncertain significance Single submitter
- ENAH p.Pro492Ser Uncertain significance Single submitter
- ENAH p.Pro509Ser Uncertain significance Single submitter
- ENAH p.Ser425Pro Uncertain significance Single submitter
- ENAH p.Ser442Gly Uncertain significance Single submitter
- ENAH p.Thr529Ala Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- ENAH c.1538+2899C>T Uncertain significance Single submitter
- ENAH p.Arg152Trp Uncertain significance Single submitter
- ENAH p.Arg158Trp Uncertain significance Single submitter
- ENAH p.Arg165Lys Uncertain significance Single submitter
- ENAH p.Arg173Thr Uncertain significance Single submitter
- ENAH p.Arg185Leu Uncertain significance Single submitter
- ENAH p.Arg200Leu Uncertain significance Single submitter
- ENAH p.Arg200Trp Uncertain significance Single submitter
- ENAH p.Arg212Trp Uncertain significance Single submitter
- ENAH p.Arg215Leu Uncertain significance Single submitter
- ENAH p.Arg218Gln Uncertain significance Single submitter
- ENAH p.Arg221Cys Uncertain significance Single submitter
- ENAH p.Arg221His Uncertain significance Single submitter
- ENAH p.Arg224Gln Uncertain significance Single submitter
- ENAH p.Arg226Met Uncertain significance Single submitter
- ENAH p.Arg240Gln Uncertain significance Single submitter
- ENAH p.Arg247Gln Uncertain significance Single submitter
- ENAH p.Arg387His Uncertain significance Single submitter
- ENAH p.Asp385His Uncertain significance Single submitter
- ENAH p.Gln130His Uncertain significance Single submitter
- ENAH p.Gln146Lys Uncertain significance Single submitter
- ENAH p.Glu225Asp Uncertain significance Single submitter
- ENAH p.Gly346Trp Uncertain significance Single submitter
- ENAH p.Gly416Arg Uncertain significance Single submitter
- ENAH p.Gly440Ala Uncertain significance Single submitter
- ENAH p.Leu140Val Uncertain significance Single submitter
- ENAH p.Leu156Met Uncertain significance Single submitter
- ENAH p.Pro334Leu Uncertain significance Single submitter
- ENAH p.Pro336Ser Uncertain significance Single submitter
- ENAH p.Pro341Ala Uncertain significance Single submitter
- ENAH p.Pro349Leu Uncertain significance Single submitter
- ENAH p.Pro352Leu Uncertain significance Single submitter
- ENAH p.Pro361Leu Uncertain significance Single submitter
- ENAH p.Pro373Leu Uncertain significance Single submitter
- ENAH p.Pro438His Uncertain significance Single submitter
- ENAH p.Ser295Phe Uncertain significance Single submitter
- ENAH p.Thr275Ile Uncertain significance Single submitter
- ENAH p.Thr464Ile Uncertain significance Single submitter
- ENAH p.Thr502Ala Uncertain significance Single submitter
- ENAH p.Thr569Ile Uncertain significance Single submitter
All ENAH variants
Benign 3
- c.1675+10del Single submitter
- c.435-5del Single submitter
- p.199ERQERL[3] Single submitter
Likely benign 5
- p.Ser265Leu Multiple submitters
- c.435-4C>T Single submitter
- c.435-5T>C Single submitter
- p.Pro314= Single submitter
- p.Ser2= Single submitter
Uncertain significance 59
- c.1538+2899C>T Single submitter ⚠
- p.Ala393Val Single submitter ⚠
- p.Arg152Trp Single submitter ⚠
- p.Arg158Trp Single submitter ⚠
- p.Arg165Lys Single submitter ⚠
- p.Arg173Thr Single submitter ⚠
- p.Arg185Leu Single submitter ⚠
- p.Arg200Leu Single submitter ⚠
- p.Arg200Trp Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg215Leu Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg224Gln Single submitter ⚠
- p.Arg226Met Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg247Gln Single submitter ⚠
- p.Arg387His Single submitter ⚠
- p.Arg406Trp Single submitter ⚠
- p.Asn278Ser Single submitter ⚠
- p.Asn422Thr Single submitter ⚠
- p.Asn98Ser Single submitter ⚠
- p.Asp385His Single submitter ⚠
- p.Gln130His Single submitter ⚠
- p.Gln146Lys Single submitter ⚠
- p.Gln304Glu Single submitter ⚠
- p.Gln325Leu Single submitter ⚠
- p.Glu225Asp Single submitter ⚠
- p.Gly309Val Single submitter ⚠
- p.Gly346Trp Single submitter ⚠
- p.Gly416Arg Single submitter ⚠
- p.Gly440Ala Single submitter ⚠
- p.Ile465Thr Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu156Met Single submitter ⚠
- p.Lys473Gln Single submitter ⚠
- p.Met104Val Single submitter ⚠
- p.Pro301Ala Single submitter ⚠
- p.Pro310Ser Single submitter ⚠
- p.Pro316Ala Single submitter ⚠
- p.Pro334Leu Single submitter ⚠
- p.Pro336Ser Single submitter ⚠
- p.Pro341Ala Single submitter ⚠
- p.Pro349Leu Single submitter ⚠
- p.Pro352Leu Single submitter ⚠
- p.Pro361Leu Single submitter ⚠
- p.Pro373Leu Single submitter ⚠
- p.Pro438His Single submitter ⚠
- p.Pro492Ser Single submitter ⚠
- p.Pro509Ser Single submitter ⚠
- p.Ser295Phe Single submitter ⚠
- p.Ser425Pro Single submitter ⚠
- p.Ser442Gly Single submitter ⚠
- p.Thr275Ile Single submitter ⚠
- p.Thr464Ile Single submitter ⚠
- p.Thr502Ala Single submitter ⚠
- p.Thr529Ala Single submitter ⚠
- p.Thr569Ile Single submitter ⚠