EQTN — 53 ClinVar variants
All ClinVar germline EQTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
4 Likely benign · 49 Uncertain significance
Full EQTN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EQTN p.Ala146Gly Uncertain significance Single submitter
- EQTN p.Ala146Ser Uncertain significance Single submitter
- EQTN p.Ala247Val Uncertain significance Single submitter
- EQTN p.Ala93Val Uncertain significance Single submitter
- EQTN p.Arg126Ser Uncertain significance Single submitter
- EQTN p.Arg294Gln Uncertain significance Single submitter
- EQTN p.Arg85Ser Uncertain significance Single submitter
- EQTN p.Asn288Lys Uncertain significance Single submitter
- EQTN p.Asn96Lys Uncertain significance Single submitter
- EQTN p.Asn96Ser Uncertain significance Single submitter
- EQTN p.Asp151Asn Uncertain significance Single submitter
- EQTN p.Gln172Arg Uncertain significance Single submitter
- EQTN p.Glu111Gly Uncertain significance Single submitter
- EQTN p.Glu113Lys Uncertain significance Single submitter
- EQTN p.Glu290Asp Uncertain significance Single submitter
- EQTN p.Glu41Lys Uncertain significance Single submitter
- EQTN p.Gly169Arg Uncertain significance Single submitter
- EQTN p.Gly237Ser Uncertain significance Single submitter
- EQTN p.Gly254Asp Uncertain significance Single submitter
- EQTN p.Ile142Met Uncertain significance Single submitter
- EQTN p.Ile182Val Uncertain significance Single submitter
- EQTN p.Ile24Val Uncertain significance Single submitter
- EQTN p.Ile4Met Uncertain significance Single submitter
- EQTN p.Leu193Pro Uncertain significance Single submitter
- EQTN p.Leu211Gln Uncertain significance Single submitter
- EQTN p.Lys39Glu Uncertain significance Single submitter
- EQTN p.Phe243Tyr Uncertain significance Single submitter
- EQTN p.Phe3Tyr Uncertain significance Single submitter
- EQTN p.Phe6Ser Uncertain significance Single submitter
- EQTN p.Phe70Ile Uncertain significance Single submitter
- EQTN p.Ser218Asn Uncertain significance Single submitter
- EQTN p.Thr103Ala Uncertain significance Single submitter
- EQTN p.Thr104Arg Uncertain significance Single submitter
- EQTN p.Thr116Ala Uncertain significance Single submitter
- EQTN p.Thr19Ile Uncertain significance Single submitter
- EQTN p.Thr251Ala Uncertain significance Single submitter
- EQTN p.Thr87Lys Uncertain significance Single submitter
- EQTN p.Val12Phe Uncertain significance Single submitter
- EQTN p.Val131Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EQTN p.Gly185Glu Uncertain significance Single submitter
- EQTN p.Ile82Thr Uncertain significance Single submitter
- EQTN p.Met183Ile Uncertain significance Single submitter
- EQTN p.Phe13Leu Uncertain significance Single submitter
- EQTN p.Ser239Pro Uncertain significance Single submitter
- EQTN p.Ser246Arg Uncertain significance Single submitter
- EQTN p.Thr241Ile Uncertain significance Single submitter
- EQTN p.Tyr220His Uncertain significance Single submitter
- EQTN p.Val195Glu Uncertain significance Single submitter
All EQTN variants
Likely benign 4
- p.Gly169Glu Single submitter
- p.Ile272Met Single submitter
- p.Lys207Arg Single submitter
- p.Thr274Met Single submitter
Uncertain significance 49
- p.Ala146Gly Single submitter ⚠
- p.Ala146Ser Single submitter ⚠
- p.Ala247Val Single submitter ⚠
- p.Ala93Val Single submitter ⚠
- p.Arg126Ser Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg85Ser Single submitter ⚠
- p.Asn288Lys Single submitter ⚠
- p.Asn96Lys Single submitter ⚠
- p.Asn96Ser Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Glu111Gly Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu290Asp Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly185Glu Single submitter ⚠
- p.Gly237Ser Single submitter ⚠
- p.Gly254Asp Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile182Val Single submitter ⚠
- p.Ile24Val Single submitter ⚠
- p.Ile4Met Single submitter ⚠
- p.Ile82Thr Single submitter ⚠
- p.Leu193Pro Single submitter ⚠
- p.Leu211Gln Single submitter ⚠
- p.Lys39Glu Single submitter ⚠
- p.Met183Ile Single submitter ⚠
- p.Phe13Leu Single submitter ⚠
- p.Phe243Tyr Single submitter ⚠
- p.Phe3Tyr Single submitter ⚠
- p.Phe6Ser Single submitter ⚠
- p.Phe70Ile Single submitter ⚠
- p.Pro160Leu Single submitter
- p.Ser218Asn Single submitter ⚠
- p.Ser239Pro Single submitter ⚠
- p.Ser246Arg Single submitter ⚠
- p.Thr103Ala Single submitter ⚠
- p.Thr104Arg Single submitter ⚠
- p.Thr116Ala Single submitter ⚠
- p.Thr19Ile Single submitter ⚠
- p.Thr241Ile Single submitter ⚠
- p.Thr251Ala Single submitter ⚠
- p.Thr87Lys Single submitter ⚠
- p.Tyr220His Single submitter ⚠
- p.Val12Phe Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val195Glu Single submitter ⚠