L3MBTL3 — 99 ClinVar variants
All ClinVar germline L3MBTL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
3 Benign · 2 Likely benign · 94 Uncertain significance
Full L3MBTL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- L3MBTL3 p.Ala231Val Uncertain significance Single submitter
- L3MBTL3 p.Ala243Val Uncertain significance Single submitter
- L3MBTL3 p.Ala353Pro Uncertain significance Single submitter
- L3MBTL3 p.Ala418Val Uncertain significance Single submitter
- L3MBTL3 p.Ala633Thr Uncertain significance Single submitter
- L3MBTL3 p.Ala698Ser Uncertain significance Single submitter
- L3MBTL3 p.Arg156Lys Uncertain significance Single submitter
- L3MBTL3 p.Arg171Gln Uncertain significance Single submitter
- L3MBTL3 p.Arg433Gly Uncertain significance Single submitter
- L3MBTL3 p.Arg594Cys Uncertain significance Single submitter
- L3MBTL3 p.Arg594His Uncertain significance Single submitter
- L3MBTL3 p.Arg658Trp Uncertain significance Single submitter
- L3MBTL3 p.Arg668His Uncertain significance Single submitter
- L3MBTL3 p.Arg669Gln Uncertain significance Single submitter
- L3MBTL3 p.Arg686Cys Uncertain significance Single submitter
- L3MBTL3 p.Arg686His Uncertain significance Single submitter
- L3MBTL3 p.Asn162Ser Uncertain significance Single submitter
- L3MBTL3 p.Asn341Ser Uncertain significance Single submitter
- L3MBTL3 p.Asn513His Uncertain significance Single submitter
- L3MBTL3 p.Asp161Gly Uncertain significance Single submitter
- L3MBTL3 p.Asp191Asn Uncertain significance Single submitter
- L3MBTL3 p.Asp191Glu Uncertain significance Single submitter
- L3MBTL3 p.Asp216Tyr Uncertain significance Single submitter
- L3MBTL3 p.Asp406Glu Uncertain significance Single submitter
- L3MBTL3 p.Cys143Tyr Uncertain significance Single submitter
- L3MBTL3 p.Cys169Phe Uncertain significance Single submitter
- L3MBTL3 p.Cys583Ser Uncertain significance Single submitter
- L3MBTL3 p.Gln222His Uncertain significance Single submitter
- L3MBTL3 p.Gln664Arg Uncertain significance Single submitter
- L3MBTL3 p.Gln664His Uncertain significance Single submitter
- L3MBTL3 p.Glu276Lys Uncertain significance Single submitter
- L3MBTL3 p.Glu338Gln Uncertain significance Single submitter
- L3MBTL3 p.Glu456Lys Uncertain significance Single submitter
- L3MBTL3 p.Glu551Asp Uncertain significance Single submitter
- L3MBTL3 p.Glu551Gln Uncertain significance Single submitter
- L3MBTL3 p.Glu603Gln Uncertain significance Single submitter
- L3MBTL3 p.Glu645Asp Uncertain significance Single submitter
- L3MBTL3 p.Gly722Arg Uncertain significance Single submitter
- L3MBTL3 p.His632Arg Uncertain significance Single submitter
- L3MBTL3 p.Ile388Val Uncertain significance Single submitter
- L3MBTL3 p.Leu284Phe Uncertain significance Single submitter
- L3MBTL3 p.Lys101Arg Uncertain significance Single submitter
- L3MBTL3 p.Lys148Glu Uncertain significance Single submitter
- L3MBTL3 p.Lys197Arg Uncertain significance Single submitter
- L3MBTL3 p.Lys477Glu Uncertain significance Single submitter
- L3MBTL3 p.Lys592Glu Uncertain significance Single submitter
- L3MBTL3 p.Lys774Arg Uncertain significance Single submitter
- L3MBTL3 p.Met479Val Uncertain significance Single submitter
- L3MBTL3 p.Met52Val Uncertain significance Single submitter
- L3MBTL3 p.Phe298Val Uncertain significance Single submitter
- L3MBTL3 p.Phe340Leu Uncertain significance Single submitter
- L3MBTL3 p.Phe491Val Uncertain significance Single submitter
- L3MBTL3 p.Pro247Leu Uncertain significance Single submitter
- L3MBTL3 p.Pro471Ser Uncertain significance Single submitter
- L3MBTL3 p.Pro489Ser Uncertain significance Single submitter
- L3MBTL3 p.Pro539Ser Uncertain significance Single submitter
- L3MBTL3 p.Pro612Leu Uncertain significance Single submitter
- L3MBTL3 p.Ser140Asn Uncertain significance Single submitter
- L3MBTL3 p.Ser206Leu Uncertain significance Single submitter
- L3MBTL3 p.Ser217Leu Uncertain significance Single submitter
- L3MBTL3 p.Ser6Cys Uncertain significance Single submitter
- L3MBTL3 p.Ser6Pro Uncertain significance Single submitter
- L3MBTL3 p.Ser9Asn Uncertain significance Single submitter
- L3MBTL3 p.Ser9Thr Uncertain significance Single submitter
- L3MBTL3 p.Thr536Ile Uncertain significance Single submitter
- L3MBTL3 p.Thr617Ile Uncertain significance Single submitter
- L3MBTL3 p.Thr644Ile Uncertain significance Single submitter
- L3MBTL3 p.Thr644Pro Uncertain significance Single submitter
- L3MBTL3 p.Thr8Pro Uncertain significance Single submitter
- L3MBTL3 p.Tyr305Cys Uncertain significance Single submitter
- L3MBTL3 p.Val114Gly Uncertain significance Single submitter
- L3MBTL3 p.Val158Gly Uncertain significance Single submitter
- L3MBTL3 p.Val158Leu Uncertain significance Single submitter
- L3MBTL3 p.Val273Ala Uncertain significance Single submitter
- L3MBTL3 p.Val273Met Uncertain significance Single submitter
- L3MBTL3 p.Val283Ile Uncertain significance Single submitter
- L3MBTL3 p.Val37Ile Uncertain significance Single submitter
- L3MBTL3 p.Val483Ile Uncertain significance Single submitter
- L3MBTL3 p.Val663Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- L3MBTL3 p.Ala351Gly Uncertain significance Single submitter
- L3MBTL3 p.Arg400His Uncertain significance Single submitter
- L3MBTL3 p.Asp312Gly Uncertain significance Single submitter
- L3MBTL3 p.Glu240Lys Uncertain significance Single submitter
- L3MBTL3 p.Gly326Ser Uncertain significance Single submitter
- L3MBTL3 p.Gly441Val Uncertain significance Single submitter
- L3MBTL3 p.Ile748Thr Uncertain significance Single submitter
- L3MBTL3 p.Lys252Gln Uncertain significance Single submitter
- L3MBTL3 p.Phe257Leu Uncertain significance Single submitter
- L3MBTL3 p.Pro525Arg Uncertain significance Single submitter
- L3MBTL3 p.Ser369Leu Uncertain significance Single submitter
- L3MBTL3 p.Tyr138Asp Uncertain significance Single submitter
- L3MBTL3 p.Phe509Leu Uncertain significance No assertion criteria
All L3MBTL3 variants
Benign 3
- c.1092+3A>G Single submitter
- p.Thr183Asn Single submitter
- p.Val280= Single submitter
Likely benign 2
- c.583-10C>A Single submitter
- p.Met490Val Single submitter
Uncertain significance 94
- p.Ala231Val Single submitter ⚠
- p.Ala243Val Single submitter ⚠
- p.Ala351Gly Single submitter ⚠
- p.Ala353Pro Single submitter ⚠
- p.Ala418Val Single submitter ⚠
- p.Ala633Thr Single submitter ⚠
- p.Ala698Ser Single submitter ⚠
- p.Arg156Lys Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg400His Single submitter ⚠
- p.Arg433Gly Single submitter ⚠
- p.Arg594Cys Single submitter ⚠
- p.Arg594His Single submitter ⚠
- p.Arg658Trp Single submitter ⚠
- p.Arg668His Single submitter ⚠
- p.Arg669Gln Single submitter ⚠
- p.Arg686Cys Single submitter ⚠
- p.Arg686His Single submitter ⚠
- p.Asn162Ser Single submitter ⚠
- p.Asn341Ser Single submitter ⚠
- p.Asn513His Single submitter ⚠
- p.Asp161Gly Single submitter ⚠
- p.Asp191Asn Single submitter ⚠
- p.Asp191Glu Single submitter ⚠
- p.Asp216Tyr Single submitter ⚠
- p.Asp312Gly Single submitter ⚠
- p.Asp406Glu Single submitter ⚠
- p.Cys143Tyr Single submitter ⚠
- p.Cys169Phe Single submitter ⚠
- p.Cys583Ser Single submitter ⚠
- p.Gln222His Single submitter ⚠
- p.Gln664Arg Single submitter ⚠
- p.Gln664His Single submitter ⚠
- p.Glu240Lys Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu338Gln Single submitter ⚠
- p.Glu456Lys Single submitter ⚠
- p.Glu551Asp Single submitter ⚠
- p.Glu551Gln Single submitter ⚠
- p.Glu603Gln Single submitter ⚠
- p.Glu645Asp Single submitter ⚠
- p.Gly326Ser Single submitter ⚠
- p.Gly441Val Single submitter ⚠
- p.Gly722Arg Single submitter ⚠
- p.His632Arg Single submitter ⚠
- p.Ile388Val Single submitter ⚠
- p.Ile748Thr Single submitter ⚠
- p.Leu284Phe Single submitter ⚠
- p.Lys101Arg Single submitter ⚠
- p.Lys148Glu Single submitter ⚠
- p.Lys197Arg Single submitter ⚠
- p.Lys252Gln Single submitter ⚠
- p.Lys477Glu Single submitter ⚠
- p.Lys592Glu Single submitter ⚠
- p.Lys774Arg Single submitter ⚠
- p.Met479Val Single submitter ⚠
- p.Met52Val Single submitter ⚠
- p.Phe257Leu Single submitter ⚠
- p.Phe298Val Single submitter ⚠
- p.Phe340Leu Single submitter ⚠
- p.Phe491Val Single submitter ⚠
- p.Pro247Leu Single submitter ⚠
- p.Pro471Ser Single submitter ⚠
- p.Pro489Ser Single submitter ⚠
- p.Pro525Arg Single submitter ⚠
- p.Pro539Ser Single submitter ⚠
- p.Pro612Leu Single submitter ⚠
- p.Ser140Asn Single submitter ⚠
- p.Ser206Leu Single submitter ⚠
- p.Ser217Leu Single submitter ⚠
- p.Ser369Leu Single submitter ⚠
- p.Ser6Cys Single submitter ⚠
- p.Ser6Pro Single submitter ⚠
- p.Ser9Asn Single submitter ⚠
- p.Ser9Thr Single submitter ⚠
- p.Thr536Ile Single submitter ⚠
- p.Thr617Ile Single submitter ⚠
- p.Thr644Ile Single submitter ⚠
- p.Thr644Pro Single submitter ⚠
- p.Thr8Pro Single submitter ⚠
- p.Tyr138Asp Single submitter ⚠
- p.Tyr305Cys Single submitter ⚠
- p.Tyr516Cys Single submitter
- p.Val114Gly Single submitter ⚠
- p.Val158Gly Single submitter ⚠
- p.Val158Leu Single submitter ⚠
- p.Val273Ala Single submitter ⚠
- p.Val273Met Single submitter ⚠
- p.Val283Ile Single submitter ⚠
- p.Val37Ile Single submitter ⚠
- p.Val380Ala Single submitter
- p.Val483Ile Single submitter ⚠
- p.Val663Ile Single submitter ⚠
- p.Phe509Leu No assertion criteria ⚠