EGFL8 — 47 ClinVar variants
All ClinVar germline EGFL8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
2 Likely benign · 45 Uncertain significance
Full EGFL8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EGFL8 p.Ala107Thr Uncertain significance Single submitter
- EGFL8 p.Ala238Val Uncertain significance Single submitter
- EGFL8 p.Arg149Ser Uncertain significance Single submitter
- EGFL8 p.Arg202Gly Uncertain significance Single submitter
- EGFL8 p.Arg202Trp Uncertain significance Single submitter
- EGFL8 p.Arg209His Uncertain significance Single submitter
- EGFL8 p.Arg224Gln Uncertain significance Single submitter
- EGFL8 p.Arg261Gln Uncertain significance Single submitter
- EGFL8 p.Arg68Ser Uncertain significance Single submitter
- EGFL8 p.Arg79His Uncertain significance Single submitter
- EGFL8 p.Asp146Gly Uncertain significance Single submitter
- EGFL8 p.Asp267Glu Uncertain significance Single submitter
- EGFL8 p.Cys124Tyr Uncertain significance Single submitter
- EGFL8 p.Cys148Tyr Uncertain significance Single submitter
- EGFL8 p.Gln41Arg Uncertain significance Single submitter
- EGFL8 p.Glu208Gly Uncertain significance Single submitter
- EGFL8 p.Glu24Lys Uncertain significance Single submitter
- EGFL8 p.Glu33Asp Uncertain significance Single submitter
- EGFL8 p.Gly137Glu Uncertain significance Single submitter
- EGFL8 p.Gly169Ser Uncertain significance Single submitter
- EGFL8 p.Gly289Ser Uncertain significance Single submitter
- EGFL8 p.Ile113Asn Uncertain significance Single submitter
- EGFL8 p.Ile113Leu Uncertain significance Single submitter
- EGFL8 p.Ile196Met Uncertain significance Single submitter
- EGFL8 p.Ile262Met Uncertain significance Single submitter
- EGFL8 p.Leu108Pro Uncertain significance Single submitter
- EGFL8 p.Met184Ile Uncertain significance Single submitter
- EGFL8 p.Pro241Ser Uncertain significance Single submitter
- EGFL8 p.Ser280Ala Uncertain significance Single submitter
- EGFL8 p.Val125Ile Uncertain significance Single submitter
- EGFL8 p.Val199Met Uncertain significance Single submitter
- EGFL8 p.Val242Leu Uncertain significance Single submitter
- EGFL8 p.Val269Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- EGFL8 p.Arg103Trp Uncertain significance Single submitter
- EGFL8 p.Arg209Cys Uncertain significance Single submitter
- EGFL8 p.Arg261Gly Uncertain significance Single submitter
- EGFL8 p.Gly121Arg Uncertain significance Single submitter
- EGFL8 p.Gly121Glu Uncertain significance Single submitter
- EGFL8 p.Gly135Ser Uncertain significance Single submitter
- EGFL8 p.Gly36Glu Uncertain significance Single submitter
- EGFL8 p.Gly36Val Uncertain significance Single submitter
- EGFL8 p.Leu197Pro Uncertain significance Single submitter
- EGFL8 p.Val145Met Uncertain significance Single submitter
All EGFL8 variants
Likely benign 2
- p.His158Arg Single submitter
- p.Tyr74Ter Single submitter
Uncertain significance 45
- p.Ala107Thr Single submitter ⚠
- p.Ala238Val Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg149Ser Single submitter ⚠
- p.Arg202Gly Single submitter ⚠
- p.Arg202Trp Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg224Gln Single submitter ⚠
- p.Arg261Gln Single submitter ⚠
- p.Arg261Gly Single submitter ⚠
- p.Arg68Ser Single submitter ⚠
- p.Arg79His Single submitter ⚠
- p.Asp146Gly Single submitter ⚠
- p.Asp267Glu Single submitter ⚠
- p.Cys124Tyr Single submitter ⚠
- p.Cys148Tyr Single submitter ⚠
- p.Gln41Arg Single submitter ⚠
- p.Glu208Gly Single submitter ⚠
- p.Glu24Lys Single submitter ⚠
- p.Glu33Asp Single submitter ⚠
- p.Gly121Arg Single submitter ⚠
- p.Gly121Glu Single submitter ⚠
- p.Gly135Ser Single submitter ⚠
- p.Gly137Glu Single submitter ⚠
- p.Gly169Ser Single submitter ⚠
- p.Gly289Ser Single submitter ⚠
- p.Gly36Glu Single submitter ⚠
- p.Gly36Val Single submitter ⚠
- p.His104Gln Single submitter
- p.Ile113Asn Single submitter ⚠
- p.Ile113Leu Single submitter ⚠
- p.Ile196Met Single submitter ⚠
- p.Ile262Met Single submitter ⚠
- p.Leu108Pro Single submitter ⚠
- p.Leu197Pro Single submitter ⚠
- p.Met184Ile Single submitter ⚠
- p.Pro241Ser Single submitter ⚠
- p.Ser280Ala Single submitter ⚠
- p.Tyr53Cys Single submitter
- p.Val125Ile Single submitter ⚠
- p.Val145Met Single submitter ⚠
- p.Val199Met Single submitter ⚠
- p.Val242Leu Single submitter ⚠
- p.Val269Met Single submitter ⚠