EGFLAM — 178 ClinVar variants
All ClinVar germline EGFLAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →
2 Benign · 8 Likely benign · 168 Uncertain significance
Full EGFLAM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 168
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 98
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EGFLAM c.2465-2611T>C Uncertain significance Single submitter
- EGFLAM p.Ala314Thr Uncertain significance Single submitter
- EGFLAM p.Ala515Thr Uncertain significance Single submitter
- EGFLAM p.Ala518Thr Uncertain significance Single submitter
- EGFLAM p.Ala539Ser Uncertain significance Single submitter
- EGFLAM p.Ala620Val Uncertain significance Single submitter
- EGFLAM p.Ala77Ser Uncertain significance Single submitter
- EGFLAM p.Ala77Thr Uncertain significance Single submitter
- EGFLAM p.Ala784Thr Uncertain significance Single submitter
- EGFLAM p.Ala791Thr Uncertain significance Single submitter
- EGFLAM p.Ala822Val Uncertain significance Single submitter
- EGFLAM p.Arg124Gln Uncertain significance Single submitter
- EGFLAM p.Arg217Lys Uncertain significance Single submitter
- EGFLAM p.Arg250Cys Uncertain significance Single submitter
- EGFLAM p.Arg599Gln Uncertain significance Single submitter
- EGFLAM p.Arg5Gln Uncertain significance Single submitter
- EGFLAM p.Arg5Pro Uncertain significance Single submitter
- EGFLAM p.Arg702His Uncertain significance Single submitter
- EGFLAM p.Arg702Leu Uncertain significance Single submitter
- EGFLAM p.Arg800Trp Uncertain significance Single submitter
- EGFLAM p.Arg859Lys Uncertain significance Single submitter
- EGFLAM p.Arg916Gln Uncertain significance Single submitter
- EGFLAM p.Arg948Gln Uncertain significance Single submitter
- EGFLAM p.Asn731Ser Uncertain significance Single submitter
- EGFLAM p.Asn880Lys Uncertain significance Single submitter
- EGFLAM p.Asn953Asp Uncertain significance Single submitter
- EGFLAM p.Asn953Ser Uncertain significance Single submitter
- EGFLAM p.Asp261Gly Uncertain significance Single submitter
- EGFLAM p.Asp2Val Uncertain significance Single submitter
- EGFLAM p.Asp743His Uncertain significance Single submitter
- EGFLAM p.Asp935Glu Uncertain significance Single submitter
- EGFLAM p.Asp988Asn Uncertain significance Single submitter
- EGFLAM p.Cys352Arg Uncertain significance Single submitter
- EGFLAM p.Cys358Arg Uncertain significance Single submitter
- EGFLAM p.Cys799Arg Uncertain significance Single submitter
- EGFLAM p.Gln119Pro Uncertain significance Single submitter
- EGFLAM p.Glu672Asp Uncertain significance Single submitter
- EGFLAM p.Glu782Asp Uncertain significance Single submitter
- EGFLAM p.Glu98Gly Uncertain significance Single submitter
- EGFLAM p.Gly480Val Uncertain significance Single submitter
- EGFLAM p.Gly723Glu Uncertain significance Single submitter
- EGFLAM p.Gly778Arg Uncertain significance Single submitter
- EGFLAM p.Gly834Arg Uncertain significance Single submitter
- EGFLAM p.His130Gln Uncertain significance Single submitter
- EGFLAM p.His630Arg Uncertain significance Single submitter
- EGFLAM p.Ile252Met Uncertain significance Single submitter
- EGFLAM p.Ile326Val Uncertain significance Single submitter
- EGFLAM p.Ile664Leu Uncertain significance Single submitter
- EGFLAM p.Ile716Thr Uncertain significance Single submitter
- EGFLAM p.Ile734Val Uncertain significance Single submitter
- EGFLAM p.Ile763Val Uncertain significance Single submitter
- EGFLAM p.Ile845Thr Uncertain significance Single submitter
- EGFLAM p.Leu510Val Uncertain significance Single submitter
- EGFLAM p.Leu521Phe Uncertain significance Single submitter
- EGFLAM p.Leu650Pro Uncertain significance Single submitter
- EGFLAM p.Leu817Arg Uncertain significance Single submitter
- EGFLAM p.Leu888Pro Uncertain significance Single submitter
- EGFLAM p.Leu893Ile Uncertain significance Single submitter
- EGFLAM p.Leu950Phe Uncertain significance Single submitter
- EGFLAM p.Leu966Val Uncertain significance Single submitter
- EGFLAM p.Lys31Arg Uncertain significance Single submitter
- EGFLAM p.Lys729Asn Uncertain significance Single submitter
- EGFLAM p.Lys772Thr Uncertain significance Single submitter
- EGFLAM p.Met219Ile Uncertain significance Single submitter
- EGFLAM p.Met297Ile Uncertain significance Single submitter
- EGFLAM p.Met635Val Uncertain significance Single submitter
- EGFLAM p.Met720Thr Uncertain significance Single submitter
- EGFLAM p.Met877Ile Uncertain significance Single submitter
- EGFLAM p.Phe661Ile Uncertain significance Single submitter
- EGFLAM p.Phe675Ser Uncertain significance Single submitter
- EGFLAM p.Pro249Ser Uncertain significance Single submitter
- EGFLAM p.Pro279Leu Uncertain significance Single submitter
- EGFLAM p.Pro302Thr Uncertain significance Single submitter
- EGFLAM p.Pro830Leu Uncertain significance Single submitter
- EGFLAM p.Ser177Ala Uncertain significance Single submitter
- EGFLAM p.Ser679Pro Uncertain significance Single submitter
- EGFLAM p.Ser686Ile Uncertain significance Single submitter
- EGFLAM p.Ser87Asn Uncertain significance Single submitter
- EGFLAM p.Thr398Met Uncertain significance Single submitter
- EGFLAM p.Thr464Asn Uncertain significance Single submitter
- EGFLAM p.Thr97Met Uncertain significance Single submitter
- EGFLAM p.Thr984Ile Uncertain significance Single submitter
- EGFLAM p.Thr987Ala Uncertain significance Single submitter
- EGFLAM p.Trp364Cys Uncertain significance Single submitter
- EGFLAM p.Trp364Leu Uncertain significance Single submitter
- EGFLAM p.Trp550Cys Uncertain significance Single submitter
- EGFLAM p.Tyr840Cys Uncertain significance Single submitter
- EGFLAM p.Tyr936Cys Uncertain significance Single submitter
- EGFLAM p.Val112Ala Uncertain significance Single submitter
- EGFLAM p.Val336Ala Uncertain significance Single submitter
- EGFLAM p.Val700Ala Uncertain significance Single submitter
- EGFLAM p.Val779Ala Uncertain significance Single submitter
- EGFLAM p.Val923Ile Uncertain significance Single submitter
- EGFLAM p.Val933Gly Uncertain significance Single submitter
- EGFLAM p.Val977Leu Uncertain significance Single submitter
- EGFLAM p.Val977Met Uncertain significance Single submitter
- EGFLAM p.Val994Met Uncertain significance Single submitter
-
EGFLAM p.Gly454Arg
Uncertain significance
No assertion criteria
High myopia
Predictors split 70
The independent predictors disagree with each other — read with care.
- EGFLAM p.Ala115Val Uncertain significance Single submitter
- EGFLAM p.Ala143Pro Uncertain significance Single submitter
- EGFLAM p.Ala45Thr Uncertain significance Single submitter
- EGFLAM p.Arg111Cys Uncertain significance Single submitter
- EGFLAM p.Arg129Trp Uncertain significance Single submitter
- EGFLAM p.Arg195Trp Uncertain significance Single submitter
- EGFLAM p.Arg227Gly Uncertain significance Single submitter
- EGFLAM p.Arg227Ser Uncertain significance Single submitter
- EGFLAM p.Arg235Leu Uncertain significance Single submitter
- EGFLAM p.Arg445Cys Uncertain significance Single submitter
- EGFLAM p.Arg674His Uncertain significance Single submitter
- EGFLAM p.Arg835His Uncertain significance Single submitter
- EGFLAM p.Arg889Trp Uncertain significance Single submitter
- EGFLAM p.Arg92Trp Uncertain significance Single submitter
- EGFLAM p.Asn482Ile Uncertain significance Single submitter
- EGFLAM p.Asp269Tyr Uncertain significance Single submitter
- EGFLAM p.Asp546Gly Uncertain significance Single submitter
- EGFLAM p.Asp586Asn Uncertain significance Single submitter
- EGFLAM p.Asp644His Uncertain significance Single submitter
- EGFLAM p.Asp774Glu Uncertain significance Single submitter
- EGFLAM p.Asp914Asn Uncertain significance Single submitter
- EGFLAM p.Asp935Gly Uncertain significance Single submitter
- EGFLAM p.Cys139Gly Uncertain significance Single submitter
- EGFLAM p.Gln407Arg Uncertain significance Single submitter
- EGFLAM p.Glu418Lys Uncertain significance Single submitter
- EGFLAM p.Glu429Lys Uncertain significance Single submitter
- EGFLAM p.Gly365Arg Uncertain significance Single submitter
- EGFLAM p.Gly374Ser Uncertain significance Single submitter
- EGFLAM p.Gly377Ser Uncertain significance Single submitter
- EGFLAM p.Gly542Trp Uncertain significance Single submitter
- EGFLAM p.Gly67Glu Uncertain significance Single submitter
- EGFLAM p.Gly682Ser Uncertain significance Single submitter
- EGFLAM p.Gly891Arg Uncertain significance Single submitter
- EGFLAM p.Gly915Ser Uncertain significance Single submitter
- EGFLAM p.His576Pro Uncertain significance Single submitter
- EGFLAM p.Ile386Thr Uncertain significance Single submitter
- EGFLAM p.Leu424Val Uncertain significance Single submitter
- EGFLAM p.Leu626Pro Uncertain significance Single submitter
- EGFLAM p.Leu666Phe Uncertain significance Single submitter
- EGFLAM p.Leu666Val Uncertain significance Single submitter
- EGFLAM p.Leu690Phe Uncertain significance Single submitter
- EGFLAM p.Leu9Pro Uncertain significance Single submitter
- EGFLAM p.Lys659Asn Uncertain significance Single submitter
- EGFLAM p.Met438Thr Uncertain significance Single submitter
- EGFLAM p.Phe51Leu Uncertain significance Single submitter
- EGFLAM p.Pro128Thr Uncertain significance Single submitter
- EGFLAM p.Pro142Thr Uncertain significance Single submitter
- EGFLAM p.Pro492Leu Uncertain significance Single submitter
- EGFLAM p.Pro509Thr Uncertain significance Single submitter
- EGFLAM p.Pro740Thr Uncertain significance Single submitter
- EGFLAM p.Pro843Ala Uncertain significance Single submitter
- EGFLAM p.Ser118Arg Uncertain significance Single submitter
- EGFLAM p.Ser154Leu Uncertain significance Single submitter
- EGFLAM p.Ser167Thr Uncertain significance Single submitter
- EGFLAM p.Ser367Leu Uncertain significance Single submitter
- EGFLAM p.Ser749Leu Uncertain significance Single submitter
- EGFLAM p.Thr190Ser Uncertain significance Single submitter
- EGFLAM p.Thr473Ala Uncertain significance Single submitter
- EGFLAM p.Thr579Ala Uncertain significance Single submitter
- EGFLAM p.Thr732Ala Uncertain significance Single submitter
- EGFLAM p.Thr732Pro Uncertain significance Single submitter
- EGFLAM p.Thr984Asn Uncertain significance Single submitter
- EGFLAM p.Trp550Arg Uncertain significance Single submitter
- EGFLAM p.Trp624Arg Uncertain significance Single submitter
- EGFLAM p.Tyr742His Uncertain significance Single submitter
- EGFLAM p.Val158Ala Uncertain significance Single submitter
- EGFLAM p.Val779Met Uncertain significance Single submitter
- EGFLAM p.Val781Ala Uncertain significance Single submitter
- EGFLAM p.Val894Ala Uncertain significance Single submitter
- EGFLAM p.Val998Met Uncertain significance Single submitter
All EGFLAM variants
Benign 2
- p.Asn913= Multiple submitters
- p.Trp229Arg Multiple submitters
Likely benign 8
- p.Ala585= Single submitter
- p.Ala922= Single submitter
- p.Arg129Gln Single submitter
- p.Arg699His Single submitter
- p.Asn741Ser Single submitter
- p.His193Gln Single submitter
- p.Val131= Single submitter
- p.Val461Ile Single submitter
Uncertain significance 168
- c.2465-2611T>C Single submitter ⚠
- p.Ala115Val Single submitter ⚠
- p.Ala143Pro Single submitter ⚠
- p.Ala314Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala515Thr Single submitter ⚠
- p.Ala518Thr Single submitter ⚠
- p.Ala539Ser Single submitter ⚠
- p.Ala620Val Single submitter ⚠
- p.Ala77Ser Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Ala784Thr Single submitter ⚠
- p.Ala791Thr Single submitter ⚠
- p.Ala822Val Single submitter ⚠
- p.Arg111Cys Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg129Trp Single submitter ⚠
- p.Arg195Trp Single submitter ⚠
- p.Arg217Lys Single submitter ⚠
- p.Arg227Gly Single submitter ⚠
- p.Arg227Ser Single submitter ⚠
- p.Arg235Leu Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg445Cys Single submitter ⚠
- p.Arg599Gln Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg5Pro Single submitter ⚠
- p.Arg674His Single submitter ⚠
- p.Arg702His Single submitter ⚠
- p.Arg702Leu Single submitter ⚠
- p.Arg800Trp Single submitter ⚠
- p.Arg835His Single submitter ⚠
- p.Arg859Lys Single submitter ⚠
- p.Arg889Trp Single submitter ⚠
- p.Arg916Gln Single submitter ⚠
- p.Arg92Trp Single submitter ⚠
- p.Arg948Gln Single submitter ⚠
- p.Asn482Ile Single submitter ⚠
- p.Asn731Ser Single submitter ⚠
- p.Asn880Lys Single submitter ⚠
- p.Asn953Asp Single submitter ⚠
- p.Asn953Ser Single submitter ⚠
- p.Asp261Gly Single submitter ⚠
- p.Asp269Tyr Single submitter ⚠
- p.Asp2Val Single submitter ⚠
- p.Asp546Gly Single submitter ⚠
- p.Asp586Asn Single submitter ⚠
- p.Asp644His Single submitter ⚠
- p.Asp743His Single submitter ⚠
- p.Asp774Glu Single submitter ⚠
- p.Asp914Asn Single submitter ⚠
- p.Asp935Glu Single submitter ⚠
- p.Asp935Gly Single submitter ⚠
- p.Asp988Asn Single submitter ⚠
- p.Cys139Gly Single submitter ⚠
- p.Cys352Arg Single submitter ⚠
- p.Cys358Arg Single submitter ⚠
- p.Cys799Arg Single submitter ⚠
- p.Gln119Pro Single submitter ⚠
- p.Gln407Arg Single submitter ⚠
- p.Glu418Lys Single submitter ⚠
- p.Glu429Lys Single submitter ⚠
- p.Glu672Asp Single submitter ⚠
- p.Glu782Asp Single submitter ⚠
- p.Glu98Gly Single submitter ⚠
- p.Gly365Arg Single submitter ⚠
- p.Gly374Ser Single submitter ⚠
- p.Gly377Ser Single submitter ⚠
- p.Gly480Val Single submitter ⚠
- p.Gly542Trp Single submitter ⚠
- p.Gly67Glu Single submitter ⚠
- p.Gly682Ser Single submitter ⚠
- p.Gly723Glu Single submitter ⚠
- p.Gly778Arg Single submitter ⚠
- p.Gly834Arg Single submitter ⚠
- p.Gly891Arg Single submitter ⚠
- p.Gly915Ser Single submitter ⚠
- p.His130Gln Single submitter ⚠
- p.His576Pro Single submitter ⚠
- p.His630Arg Single submitter ⚠
- p.Ile252Met Single submitter ⚠
- p.Ile326Val Single submitter ⚠
- p.Ile386Thr Single submitter ⚠
- p.Ile664Leu Single submitter ⚠
- p.Ile716Thr Single submitter ⚠
- p.Ile734Val Single submitter ⚠
- p.Ile763Val Single submitter ⚠
- p.Ile845Thr Single submitter ⚠
- p.Leu424Val Single submitter ⚠
- p.Leu510Val Single submitter ⚠
- p.Leu521Phe Single submitter ⚠
- p.Leu626Pro Single submitter ⚠
- p.Leu650Pro Single submitter ⚠
- p.Leu666Phe Single submitter ⚠
- p.Leu666Val Single submitter ⚠
- p.Leu690Phe Single submitter ⚠
- p.Leu817Arg Single submitter ⚠
- p.Leu888Pro Single submitter ⚠
- p.Leu893Ile Single submitter ⚠
- p.Leu950Phe Single submitter ⚠
- p.Leu966Val Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys31Arg Single submitter ⚠
- p.Lys659Asn Single submitter ⚠
- p.Lys729Asn Single submitter ⚠
- p.Lys772Thr Single submitter ⚠
- p.Met219Ile Single submitter ⚠
- p.Met297Ile Single submitter ⚠
- p.Met438Thr Single submitter ⚠
- p.Met635Val Single submitter ⚠
- p.Met720Thr Single submitter ⚠
- p.Met877Ile Single submitter ⚠
- p.Phe51Leu Single submitter ⚠
- p.Phe661Ile Single submitter ⚠
- p.Phe675Ser Single submitter ⚠
- p.Pro128Thr Single submitter ⚠
- p.Pro142Thr Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro302Thr Single submitter ⚠
- p.Pro492Leu Single submitter ⚠
- p.Pro509Thr Single submitter ⚠
- p.Pro740Thr Single submitter ⚠
- p.Pro830Leu Single submitter ⚠
- p.Pro843Ala Single submitter ⚠
- p.Ser118Arg Single submitter ⚠
- p.Ser154Leu Single submitter ⚠
- p.Ser167Thr Single submitter ⚠
- p.Ser177Ala Single submitter ⚠
- p.Ser367Leu Single submitter ⚠
- p.Ser679Pro Single submitter ⚠
- p.Ser686Ile Single submitter ⚠
- p.Ser749Leu Single submitter ⚠
- p.Ser87Asn Single submitter ⚠
- p.Thr190Ser Single submitter ⚠
- p.Thr398Met Single submitter ⚠
- p.Thr464Asn Single submitter ⚠
- p.Thr473Ala Single submitter ⚠
- p.Thr579Ala Single submitter ⚠
- p.Thr732Ala Single submitter ⚠
- p.Thr732Pro Single submitter ⚠
- p.Thr97Met Single submitter ⚠
- p.Thr984Asn Single submitter ⚠
- p.Thr984Ile Single submitter ⚠
- p.Thr987Ala Single submitter ⚠
- p.Trp364Cys Single submitter ⚠
- p.Trp364Leu Single submitter ⚠
- p.Trp550Arg Single submitter ⚠
- p.Trp550Cys Single submitter ⚠
- p.Trp624Arg Single submitter ⚠
- p.Tyr742His Single submitter ⚠
- p.Tyr840Cys Single submitter ⚠
- p.Tyr936Cys Single submitter ⚠
- p.Val112Ala Single submitter ⚠
- p.Val158Ala Single submitter ⚠
- p.Val336Ala Single submitter ⚠
- p.Val700Ala Single submitter ⚠
- p.Val779Ala Single submitter ⚠
- p.Val779Met Single submitter ⚠
- p.Val781Ala Single submitter ⚠
- p.Val894Ala Single submitter ⚠
- p.Val923Ile Single submitter ⚠
- p.Val933Gly Single submitter ⚠
- p.Val977Leu Single submitter ⚠
- p.Val977Met Single submitter ⚠
- p.Val994Met Single submitter ⚠
- p.Val998Met Single submitter ⚠
- p.Gly454Arg No assertion criteria High myopia ⚠