EGFL7 — 59 ClinVar variants
All ClinVar germline EGFL7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
1 Conflicting · 1 Benign · 1 Benign/Likely benign · 5 Likely benign · 51 Uncertain significance
Full EGFL7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EGFL7 p.Ala101Asp Uncertain significance Single submitter
- EGFL7 p.Ala104Thr Uncertain significance Single submitter
- EGFL7 p.Ala143Thr Uncertain significance Single submitter
- EGFL7 p.Ala87Thr Uncertain significance Single submitter
- EGFL7 p.Ala87Val Uncertain significance Single submitter
- EGFL7 p.Arg25Gln Uncertain significance Single submitter
- EGFL7 p.Arg85His Uncertain significance Single submitter
- EGFL7 p.Asp235Asn Uncertain significance Single submitter
- EGFL7 p.Asp235Glu Uncertain significance Single submitter
- EGFL7 p.Asp38Tyr Uncertain significance Single submitter
- EGFL7 p.Cys125Arg Uncertain significance Single submitter
- EGFL7 p.Cys161Gly Uncertain significance Single submitter
- EGFL7 p.Cys163Phe Uncertain significance Single submitter
- EGFL7 p.Gln135Glu Uncertain significance Single submitter
- EGFL7 p.Glu140Asp Uncertain significance Single submitter
- EGFL7 p.Glu230Gly Uncertain significance Single submitter
- EGFL7 p.Gly173Ser Uncertain significance Single submitter
- EGFL7 p.Gly19Ser Uncertain significance Single submitter
- EGFL7 p.Gly237Ala Uncertain significance Single submitter
- EGFL7 p.Gly248Ser Uncertain significance Single submitter
- EGFL7 p.Gly265Glu Uncertain significance Single submitter
- EGFL7 p.Gly27Ser Uncertain significance Single submitter
- EGFL7 p.Gly78Arg Uncertain significance Single submitter
- EGFL7 p.Gly97Arg Uncertain significance Single submitter
- EGFL7 p.Ile257Val Uncertain significance Single submitter
- EGFL7 p.Lys271Arg Uncertain significance Single submitter
- EGFL7 p.Pro220Leu Uncertain significance Single submitter
- EGFL7 p.Pro234Leu Uncertain significance Single submitter
- EGFL7 p.Ser194Gly Uncertain significance Single submitter
- EGFL7 p.Ser226Leu Uncertain significance Single submitter
- EGFL7 p.Ser63Arg Uncertain significance Single submitter
- EGFL7 p.Ser76Gly Uncertain significance Single submitter
- EGFL7 p.Thr55Asn Uncertain significance Single submitter
- EGFL7 p.Tyr69Cys Uncertain significance Single submitter
- EGFL7 p.Val200Leu Uncertain significance Single submitter
- EGFL7 p.Val30Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- EGFL7 p.Ala156Thr Uncertain significance Single submitter
- EGFL7 p.Arg124Cys Uncertain significance Single submitter
- EGFL7 p.Arg130Trp Uncertain significance Single submitter
- EGFL7 p.Arg151Cys Uncertain significance Single submitter
- EGFL7 p.Arg202Lys Uncertain significance Single submitter
- EGFL7 p.Arg74His Uncertain significance Single submitter
- EGFL7 p.Arg83Lys Uncertain significance Single submitter
- EGFL7 p.Asp251Asn Uncertain significance Single submitter
- EGFL7 p.Gly114Arg Conflicting Single submitter
- EGFL7 p.Gly146Cys Uncertain significance Single submitter
- EGFL7 p.Gly157Ser Uncertain significance Single submitter
- EGFL7 p.His22Tyr Uncertain significance Single submitter
- EGFL7 p.Leu12Phe Likely benign Single submitter
- EGFL7 p.Leu203Met Uncertain significance Single submitter
- EGFL7 p.Val17Met Uncertain significance Single submitter
- EGFL7 p.Val45Leu Uncertain significance Single submitter
- EGFL7 p.Val45Met Uncertain significance Single submitter
All EGFL7 variants
Conflicting classifications of pathogenicity 1
- p.Gly114Arg Single submitter ⚠
Benign 1
- c.799+8C>A Single submitter
Benign/Likely benign 1
- p.Arg112Gln Multiple submitters
Likely benign 5
- p.Arg130Gln Single submitter
- p.Gln227Arg Single submitter
- p.Gly27= Single submitter
- p.Gly37Arg Single submitter
- p.Leu12Phe Single submitter ⚠
Uncertain significance 51
- p.Ala101Asp Single submitter ⚠
- p.Ala104Thr Single submitter ⚠
- p.Ala143Thr Single submitter ⚠
- p.Ala156Thr Single submitter ⚠
- p.Ala87Thr Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg130Trp Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg202Lys Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg74His Single submitter ⚠
- p.Arg83Lys Single submitter ⚠
- p.Arg85His Single submitter ⚠
- p.Asp235Asn Single submitter ⚠
- p.Asp235Glu Single submitter ⚠
- p.Asp251Asn Single submitter ⚠
- p.Asp38Tyr Single submitter ⚠
- p.Cys125Arg Single submitter ⚠
- p.Cys161Gly Single submitter ⚠
- p.Cys163Phe Single submitter ⚠
- p.Gln135Glu Single submitter ⚠
- p.Glu140Asp Single submitter ⚠
- p.Glu230Gly Single submitter ⚠
- p.Gly146Cys Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly173Ser Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly237Ala Single submitter ⚠
- p.Gly248Ser Single submitter ⚠
- p.Gly265Glu Single submitter ⚠
- p.Gly27Ser Single submitter ⚠
- p.Gly78Arg Single submitter ⚠
- p.Gly97Arg Single submitter ⚠
- p.His22Tyr Single submitter ⚠
- p.Ile257Val Single submitter ⚠
- p.Leu203Met Single submitter ⚠
- p.Lys271Arg Single submitter ⚠
- p.Pro220Leu Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Ser194Gly Single submitter ⚠
- p.Ser226Leu Single submitter ⚠
- p.Ser63Arg Single submitter ⚠
- p.Ser76Gly Single submitter ⚠
- p.Thr55Asn Single submitter ⚠
- p.Tyr69Cys Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val200Leu Single submitter ⚠
- p.Val30Met Single submitter ⚠
- p.Val45Leu Single submitter ⚠
- p.Val45Met Single submitter ⚠