EGFL6 — 73 ClinVar variants
All ClinVar germline EGFL6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
6 Benign · 6 Likely benign · 61 Uncertain significance
Full EGFL6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EGFL6 p.Ala48Val Uncertain significance Single submitter
- EGFL6 p.Arg415Lys Uncertain significance Single submitter
- EGFL6 p.Arg426Gln Uncertain significance Single submitter
- EGFL6 p.Arg479Pro Uncertain significance Single submitter
- EGFL6 p.Asn78Asp Uncertain significance Single submitter
- EGFL6 p.Asp129Asn Uncertain significance Single submitter
- EGFL6 p.Asp171Asn Uncertain significance Single submitter
- EGFL6 p.Asp345Gly Uncertain significance Single submitter
- EGFL6 p.Asp513Asn Uncertain significance Single submitter
- EGFL6 p.Cys120Ser Uncertain significance Single submitter
- EGFL6 p.Cys147Trp Uncertain significance Single submitter
- EGFL6 p.Cys147Tyr Uncertain significance Single submitter
- EGFL6 p.Cys258Tyr Uncertain significance Single submitter
- EGFL6 p.Glu268Gly Uncertain significance Single submitter
- EGFL6 p.Glu499Lys Uncertain significance Single submitter
- EGFL6 p.Gly114Arg Uncertain significance Single submitter
- EGFL6 p.Gly375Asp Uncertain significance Single submitter
- EGFL6 p.Gly378Ser Uncertain significance Single submitter
- EGFL6 p.Gly39Trp Uncertain significance Single submitter
- EGFL6 p.Gly99Val Uncertain significance Single submitter
- EGFL6 p.His113Tyr Uncertain significance Single submitter
- EGFL6 p.His29Arg Uncertain significance Single submitter
- EGFL6 p.His406Tyr Uncertain significance Single submitter
- EGFL6 p.Ile211Ser Uncertain significance Single submitter
- EGFL6 p.Ile218Thr Uncertain significance Single submitter
- EGFL6 p.Ile321Thr Uncertain significance Single submitter
- EGFL6 p.Leu163Phe Uncertain significance Single submitter
- EGFL6 p.Leu548Phe Uncertain significance Single submitter
- EGFL6 p.Lys291Arg Uncertain significance Single submitter
- EGFL6 p.Lys310Glu Uncertain significance Single submitter
- EGFL6 p.Lys450Asn Uncertain significance Single submitter
- EGFL6 p.Met100Leu Uncertain significance Single submitter
- EGFL6 p.Met225Thr Uncertain significance Single submitter
- EGFL6 p.Pro309Ala Uncertain significance Single submitter
- EGFL6 p.Ser212Asn Uncertain significance Single submitter
- EGFL6 p.Thr229Lys Uncertain significance Single submitter
- EGFL6 p.Thr308Asn Uncertain significance Single submitter
- EGFL6 p.Thr495Met Uncertain significance Single submitter
- EGFL6 p.Trp491Ser Uncertain significance Single submitter
- EGFL6 p.Tyr210Cys Uncertain significance Single submitter
- EGFL6 p.Val436Ile Uncertain significance Single submitter
- EGFL6 p.Val537Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- EGFL6 p.Arg103Trp Likely benign Multiple submitters
- EGFL6 p.Arg164Cys Benign Multiple submitters
-
EGFL6 p.Arg448Gln
Uncertain significance
Multiple submitters
exstrophy-epispadias complex
- EGFL6 p.Glu66Lys Benign Multiple submitters
- EGFL6 p.Val75Met Likely benign Multiple submitters
- EGFL6 p.Arg189Gln Uncertain significance Single submitter
- EGFL6 p.Arg524Cys Uncertain significance Single submitter
- EGFL6 p.Asn168Asp Uncertain significance Single submitter
- EGFL6 p.Asn188Ser Uncertain significance Single submitter
- EGFL6 p.Asp345Tyr Uncertain significance Single submitter
- EGFL6 p.Gln144Arg Uncertain significance Single submitter
- EGFL6 p.Gln240Arg Uncertain significance Single submitter
- EGFL6 p.Glu207Lys Uncertain significance Single submitter
- EGFL6 p.Glu531Lys Uncertain significance Single submitter
- EGFL6 p.Gly39Ala Uncertain significance Single submitter
- EGFL6 p.Gly431Ala Uncertain significance Single submitter
- EGFL6 p.Gly472Arg Uncertain significance Single submitter
- EGFL6 p.Gly472Glu Uncertain significance Single submitter
- EGFL6 p.Gly530Ser Uncertain significance Single submitter
- EGFL6 p.Gly88Arg Uncertain significance Single submitter
- EGFL6 p.Ile175Thr Uncertain significance Single submitter
- EGFL6 p.Lys46Glu Uncertain significance Single submitter
- EGFL6 p.Thr45Ile Uncertain significance Single submitter
All EGFL6 variants
Benign 6
- p.Arg108= Multiple submitters
- p.Arg164Cys Multiple submitters ⚠
- p.Glu66Lys Multiple submitters ⚠
- p.Leu508Phe Multiple submitters
- p.Lys117= Multiple submitters
- p.Tyr116= Multiple submitters
Likely benign 6
- p.Arg103Trp Multiple submitters ⚠
- p.Val75Met Multiple submitters ⚠
- p.Arg360Gln Single submitter
- p.Leu208= Single submitter
- p.Phe20= Single submitter
- p.Thr131= Single submitter
Uncertain significance 61
- p.Arg448Gln Multiple submitters exstrophy-epispadias complex ⚠
- p.Ala48Val Single submitter ⚠
- p.Arg189Gln Single submitter ⚠
- p.Arg415Lys Single submitter ⚠
- p.Arg426Gln Single submitter ⚠
- p.Arg479Pro Single submitter ⚠
- p.Arg524Cys Single submitter ⚠
- p.Asn168Asp Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asn78Asp Single submitter ⚠
- p.Asp129Asn Single submitter ⚠
- p.Asp171Asn Single submitter ⚠
- p.Asp345Gly Single submitter ⚠
- p.Asp345Tyr Single submitter ⚠
- p.Asp513Asn Single submitter ⚠
- p.Cys120Ser Single submitter ⚠
- p.Cys147Trp Single submitter ⚠
- p.Cys147Tyr Single submitter ⚠
- p.Cys258Tyr Single submitter ⚠
- p.Gln144Arg Single submitter ⚠
- p.Gln240Arg Single submitter ⚠
- p.Glu207Lys Single submitter ⚠
- p.Glu268Gly Single submitter ⚠
- p.Glu499Lys Single submitter ⚠
- p.Glu531Lys Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly375Asp Single submitter ⚠
- p.Gly378Ser Single submitter ⚠
- p.Gly39Ala Single submitter ⚠
- p.Gly39Trp Single submitter ⚠
- p.Gly431Ala Single submitter ⚠
- p.Gly472Arg Single submitter ⚠
- p.Gly472Glu Single submitter ⚠
- p.Gly530Ser Single submitter ⚠
- p.Gly88Arg Single submitter ⚠
- p.Gly99Val Single submitter ⚠
- p.His113Tyr Single submitter ⚠
- p.His29Arg Single submitter ⚠
- p.His406Tyr Single submitter ⚠
- p.Ile175Thr Single submitter ⚠
- p.Ile211Ser Single submitter ⚠
- p.Ile218Thr Single submitter ⚠
- p.Ile321Thr Single submitter ⚠
- p.Leu163Phe Single submitter ⚠
- p.Leu548Phe Single submitter ⚠
- p.Lys291Arg Single submitter ⚠
- p.Lys310Glu Single submitter ⚠
- p.Lys450Asn Single submitter ⚠
- p.Lys46Glu Single submitter ⚠
- p.Met100Leu Single submitter ⚠
- p.Met225Thr Single submitter ⚠
- p.Pro309Ala Single submitter ⚠
- p.Ser212Asn Single submitter ⚠
- p.Thr229Lys Single submitter ⚠
- p.Thr308Asn Single submitter ⚠
- p.Thr45Ile Single submitter ⚠
- p.Thr495Met Single submitter ⚠
- p.Trp491Ser Single submitter ⚠
- p.Tyr210Cys Single submitter ⚠
- p.Val436Ile Single submitter ⚠
- p.Val537Ile Single submitter ⚠