ENTHD1 — 83 ClinVar variants
All ClinVar germline ENTHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
18 Likely benign · 65 Uncertain significance
Full ENTHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENTHD1 p.Ala112Ser Uncertain significance Single submitter
- ENTHD1 p.Ala170Val Uncertain significance Single submitter
- ENTHD1 p.Ala385Gly Uncertain significance Single submitter
- ENTHD1 p.Arg121Trp Uncertain significance Single submitter
- ENTHD1 p.Arg141Met Uncertain significance Single submitter
- ENTHD1 p.Arg160Thr Uncertain significance Single submitter
- ENTHD1 p.Arg193Ser Uncertain significance Single submitter
- ENTHD1 p.Arg22Lys Uncertain significance Single submitter
- ENTHD1 p.Arg376Gln Uncertain significance Single submitter
- ENTHD1 p.Arg557Gly Uncertain significance Single submitter
- ENTHD1 p.Asn489Ser Uncertain significance Single submitter
- ENTHD1 p.Asn67Asp Uncertain significance Single submitter
- ENTHD1 p.Asn99His Uncertain significance Single submitter
- ENTHD1 p.Asp178Val Uncertain significance Single submitter
- ENTHD1 p.Asp397Gly Uncertain significance Single submitter
- ENTHD1 p.Cys93Phe Uncertain significance Single submitter
- ENTHD1 p.Gln453Glu Uncertain significance Single submitter
- ENTHD1 p.Gln91Glu Uncertain significance Single submitter
- ENTHD1 p.Glu23Lys Uncertain significance Single submitter
- ENTHD1 p.Glu269Asp Uncertain significance Single submitter
- ENTHD1 p.Glu270Lys Uncertain significance Single submitter
- ENTHD1 p.Glu341Asp Uncertain significance Single submitter
- ENTHD1 p.Glu341Val Uncertain significance Single submitter
- ENTHD1 p.Glu379Asp Uncertain significance Single submitter
- ENTHD1 p.Glu462Ala Uncertain significance Single submitter
- ENTHD1 p.Glu541Gln Uncertain significance Single submitter
- ENTHD1 p.Gly276Ala Uncertain significance Single submitter
- ENTHD1 p.His214Tyr Uncertain significance Single submitter
- ENTHD1 p.Ile331Val Uncertain significance Single submitter
- ENTHD1 p.Ile373Met Uncertain significance Single submitter
- ENTHD1 p.Ile548Thr Uncertain significance Single submitter
- ENTHD1 p.Leu312Val Uncertain significance Single submitter
- ENTHD1 p.Leu365Phe Uncertain significance Single submitter
- ENTHD1 p.Leu420Ser Uncertain significance Single submitter
- ENTHD1 p.Leu494Pro Uncertain significance Single submitter
- ENTHD1 p.Lys190Glu Uncertain significance Single submitter
- ENTHD1 p.Lys545Gln Uncertain significance Single submitter
- ENTHD1 p.Met37Leu Uncertain significance Single submitter
- ENTHD1 p.Met37Thr Uncertain significance Single submitter
- ENTHD1 p.Phe356Cys Uncertain significance Single submitter
- ENTHD1 p.Pro177Leu Uncertain significance Single submitter
- ENTHD1 p.Pro444Leu Uncertain significance Single submitter
- ENTHD1 p.Ser344Arg Uncertain significance Single submitter
- ENTHD1 p.Ser458Pro Uncertain significance Single submitter
- ENTHD1 p.Ser534Leu Uncertain significance Single submitter
- ENTHD1 p.Ser549Asn Uncertain significance Single submitter
- ENTHD1 p.Ser587Thr Uncertain significance Single submitter
- ENTHD1 p.Thr355Ala Uncertain significance Single submitter
- ENTHD1 p.Thr404Asn Uncertain significance Single submitter
- ENTHD1 p.Thr465Ile Uncertain significance Single submitter
- ENTHD1 p.Trp30Arg Uncertain significance Single submitter
- ENTHD1 p.Trp336Cys Uncertain significance Single submitter
- ENTHD1 p.Val143Met Uncertain significance Single submitter
- ENTHD1 p.Val21Asp Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ENTHD1 p.Ala144Gly Uncertain significance Single submitter
- ENTHD1 p.Arg146Gln Uncertain significance Single submitter
- ENTHD1 p.Arg406Trp Likely benign Single submitter
- ENTHD1 p.Asp39Gly Uncertain significance Single submitter
- ENTHD1 p.Gln101His Uncertain significance Single submitter
- ENTHD1 p.Gly602Trp Uncertain significance Single submitter
- ENTHD1 p.Ile48Met Uncertain significance Single submitter
- ENTHD1 p.Leu43Phe Uncertain significance Single submitter
- ENTHD1 p.Leu562Ser Uncertain significance Single submitter
- ENTHD1 p.Leu580Ser Uncertain significance Single submitter
- ENTHD1 p.Lys319Met Uncertain significance Single submitter
- ENTHD1 p.Ser594Pro Uncertain significance Single submitter
All ENTHD1 variants
Likely benign 18
- p.Arg292Thr Single submitter
- p.Arg406Gln Single submitter
- p.Arg406Trp Single submitter ⚠
- p.Arg557Cys Single submitter
- p.Cys171Arg Single submitter
- p.Gln571Arg Single submitter
- p.Gly302Ser Single submitter
- p.Gly476Ser Single submitter
- p.His195Arg Single submitter
- p.Ile303Thr Single submitter
- p.Leu427Ser Single submitter
- p.Lys545Asn Single submitter
- p.Met422Val Single submitter
- p.Met581Val Single submitter
- p.Pro369fs Single submitter
- p.Ser275Leu Single submitter
- p.Val200Ala Single submitter
- p.Val596Ala Single submitter
Uncertain significance 65
- p.Ala112Ser Single submitter ⚠
- p.Ala144Gly Single submitter ⚠
- p.Ala170Val Single submitter ⚠
- p.Ala385Gly Single submitter ⚠
- p.Arg121Trp Single submitter ⚠
- p.Arg141Met Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg160Thr Single submitter ⚠
- p.Arg193Ser Single submitter ⚠
- p.Arg22Lys Single submitter ⚠
- p.Arg376Gln Single submitter ⚠
- p.Arg557Gly Single submitter ⚠
- p.Asn489Ser Single submitter ⚠
- p.Asn67Asp Single submitter ⚠
- p.Asn99His Single submitter ⚠
- p.Asp178Val Single submitter ⚠
- p.Asp397Gly Single submitter ⚠
- p.Asp39Gly Single submitter ⚠
- p.Cys93Phe Single submitter ⚠
- p.Gln101His Single submitter ⚠
- p.Gln453Glu Single submitter ⚠
- p.Gln91Glu Single submitter ⚠
- p.Glu23Lys Single submitter ⚠
- p.Glu269Asp Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu341Asp Single submitter ⚠
- p.Glu341Val Single submitter ⚠
- p.Glu379Asp Single submitter ⚠
- p.Glu462Ala Single submitter ⚠
- p.Glu541Gln Single submitter ⚠
- p.Gly276Ala Single submitter ⚠
- p.Gly602Trp Single submitter ⚠
- p.His214Tyr Single submitter ⚠
- p.Ile331Val Single submitter ⚠
- p.Ile373Met Single submitter ⚠
- p.Ile48Met Single submitter ⚠
- p.Ile548Thr Single submitter ⚠
- p.Leu312Val Single submitter ⚠
- p.Leu365Phe Single submitter ⚠
- p.Leu420Ser Single submitter ⚠
- p.Leu43Phe Single submitter ⚠
- p.Leu494Pro Single submitter ⚠
- p.Leu562Ser Single submitter ⚠
- p.Leu580Ser Single submitter ⚠
- p.Lys190Glu Single submitter ⚠
- p.Lys319Met Single submitter ⚠
- p.Lys545Gln Single submitter ⚠
- p.Met37Leu Single submitter ⚠
- p.Met37Thr Single submitter ⚠
- p.Phe356Cys Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Pro444Leu Single submitter ⚠
- p.Ser344Arg Single submitter ⚠
- p.Ser458Pro Single submitter ⚠
- p.Ser534Leu Single submitter ⚠
- p.Ser549Asn Single submitter ⚠
- p.Ser587Thr Single submitter ⚠
- p.Ser594Pro Single submitter ⚠
- p.Thr355Ala Single submitter ⚠
- p.Thr404Asn Single submitter ⚠
- p.Thr465Ile Single submitter ⚠
- p.Trp30Arg Single submitter ⚠
- p.Trp336Cys Single submitter ⚠
- p.Val143Met Single submitter ⚠
- p.Val21Asp Single submitter ⚠