L3MBTL4 — 92 ClinVar variants
All ClinVar germline L3MBTL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
4 Likely benign · 88 Uncertain significance
Full L3MBTL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- L3MBTL4 p.Ala168Ser Uncertain significance Single submitter
- L3MBTL4 p.Ala215Val Uncertain significance Single submitter
- L3MBTL4 p.Ala27Val Uncertain significance Single submitter
- L3MBTL4 p.Ala488Val Uncertain significance Single submitter
- L3MBTL4 p.Ala503Thr Uncertain significance Single submitter
- L3MBTL4 p.Ala51Ser Uncertain significance Single submitter
- L3MBTL4 p.Ala565Val Uncertain significance Single submitter
- L3MBTL4 p.Arg23Ser Uncertain significance Single submitter
- L3MBTL4 p.Arg314Cys Uncertain significance Single submitter
- L3MBTL4 p.Arg325Lys Uncertain significance Single submitter
- L3MBTL4 p.Arg391His Uncertain significance Single submitter
- L3MBTL4 p.Arg394His Uncertain significance Single submitter
- L3MBTL4 p.Arg513Lys Uncertain significance Single submitter
- L3MBTL4 p.Arg89Ser Uncertain significance Single submitter
- L3MBTL4 p.Asn268Ile Uncertain significance Single submitter
- L3MBTL4 p.Asn447Ser Uncertain significance Single submitter
- L3MBTL4 p.Asp322Glu Uncertain significance Single submitter
- L3MBTL4 p.Asp35Asn Uncertain significance Single submitter
- L3MBTL4 p.Asp419Asn Uncertain significance Single submitter
- L3MBTL4 p.Asp508Val Uncertain significance Single submitter
- L3MBTL4 p.Cys102Gly Uncertain significance Single submitter
- L3MBTL4 p.Cys210Tyr Uncertain significance Single submitter
- L3MBTL4 p.Cys379Arg Uncertain significance Single submitter
- L3MBTL4 p.Cys549Tyr Uncertain significance Single submitter
- L3MBTL4 p.Gln490Arg Uncertain significance Single submitter
- L3MBTL4 p.Gln610His Uncertain significance Single submitter
- L3MBTL4 p.Gln610Pro Uncertain significance Single submitter
- L3MBTL4 p.Gln61Glu Uncertain significance Single submitter
- L3MBTL4 p.Glu148Lys Uncertain significance Single submitter
- L3MBTL4 p.Glu81Lys Uncertain significance Single submitter
- L3MBTL4 p.Gly140Arg Uncertain significance Single submitter
- L3MBTL4 p.Gly22Arg Uncertain significance Single submitter
- L3MBTL4 p.Gly262Asp Uncertain significance Single submitter
- L3MBTL4 p.Gly383Arg Uncertain significance Single submitter
- L3MBTL4 p.Gly50Arg Uncertain significance Single submitter
- L3MBTL4 p.Gly512Cys Uncertain significance Single submitter
- L3MBTL4 p.Gly614Arg Uncertain significance Single submitter
- L3MBTL4 p.His117Arg Uncertain significance Single submitter
- L3MBTL4 p.His335Pro Uncertain significance Single submitter
- L3MBTL4 p.His389Arg Uncertain significance Single submitter
- L3MBTL4 p.His450Leu Uncertain significance Single submitter
- L3MBTL4 p.Ile387Val Uncertain significance Single submitter
- L3MBTL4 p.Ile474Thr Uncertain significance Single submitter
- L3MBTL4 p.Leu373Ile Uncertain significance Single submitter
- L3MBTL4 p.Leu509Val Uncertain significance Single submitter
- L3MBTL4 p.Leu601Phe Uncertain significance Single submitter
- L3MBTL4 p.Lys144Thr Uncertain significance Single submitter
- L3MBTL4 p.Lys159Glu Uncertain significance Single submitter
- L3MBTL4 p.Lys31Arg Uncertain significance Single submitter
- L3MBTL4 p.Lys371Thr Uncertain significance Single submitter
- L3MBTL4 p.Lys412Gln Uncertain significance Single submitter
- L3MBTL4 p.Lys452Asn Uncertain significance Single submitter
- L3MBTL4 p.Lys558Glu Uncertain significance Single submitter
- L3MBTL4 p.Met12Val Uncertain significance Single submitter
- L3MBTL4 p.Pro184Leu Uncertain significance Single submitter
- L3MBTL4 p.Pro187Ser Uncertain significance Single submitter
- L3MBTL4 p.Pro405Leu Uncertain significance Single submitter
- L3MBTL4 p.Pro457Arg Uncertain significance Single submitter
- L3MBTL4 p.Pro602Ser Uncertain significance Single submitter
- L3MBTL4 p.Ser400Arg Uncertain significance Single submitter
- L3MBTL4 p.Ser41Asn Uncertain significance Single submitter
- L3MBTL4 p.Ser484Thr Uncertain significance Single submitter
- L3MBTL4 p.Ser495Leu Uncertain significance Single submitter
- L3MBTL4 p.Ser76Phe Uncertain significance Single submitter
- L3MBTL4 p.Thr500Met Uncertain significance Single submitter
- L3MBTL4 p.Thr572Met Uncertain significance Single submitter
- L3MBTL4 p.Val201Met Uncertain significance Single submitter
- L3MBTL4 p.Val224Leu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- L3MBTL4 p.Ala212Ser Uncertain significance Single submitter
- L3MBTL4 p.Ala63Val Uncertain significance Single submitter
- L3MBTL4 p.Asn205Lys Uncertain significance Single submitter
- L3MBTL4 p.Cys102Ser Uncertain significance Single submitter
- L3MBTL4 p.Gln251Pro Uncertain significance Single submitter
- L3MBTL4 p.His329Arg Uncertain significance Single submitter
- L3MBTL4 p.Ile214Met Uncertain significance Single submitter
- L3MBTL4 p.Ile351Met Uncertain significance Single submitter
- L3MBTL4 p.Lys153Asn Uncertain significance Single submitter
- L3MBTL4 p.Met300Thr Uncertain significance Single submitter
- L3MBTL4 p.Phe296Leu Uncertain significance Single submitter
- L3MBTL4 p.Phe595Leu Uncertain significance Single submitter
- L3MBTL4 p.Pro284Leu Uncertain significance Single submitter
- L3MBTL4 p.Tyr125Cys Uncertain significance Single submitter
- L3MBTL4 p.Val315Leu Uncertain significance Single submitter
All L3MBTL4 variants
Likely benign 4
- p.Asn11Ser Single submitter
- p.Leu511= Single submitter
- p.Val201= Single submitter
- p.Val319Ile Single submitter
Uncertain significance 88
- p.Ala168Ser Single submitter ⚠
- p.Ala212Ser Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala488Val Single submitter ⚠
- p.Ala503Thr Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Ala565Val Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Arg23Ser Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg325Lys Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Arg394His Single submitter ⚠
- p.Arg513Lys Single submitter ⚠
- p.Arg89Ser Single submitter ⚠
- p.Asn205Lys Single submitter ⚠
- p.Asn268Ile Single submitter ⚠
- p.Asn447Ser Single submitter ⚠
- p.Asp135Gly Single submitter
- p.Asp322Glu Single submitter ⚠
- p.Asp35Asn Single submitter ⚠
- p.Asp419Asn Single submitter ⚠
- p.Asp508Val Single submitter ⚠
- p.Asp562Asn Single submitter
- p.Cys102Gly Single submitter ⚠
- p.Cys102Ser Single submitter ⚠
- p.Cys210Tyr Single submitter ⚠
- p.Cys379Arg Single submitter ⚠
- p.Cys549Tyr Single submitter ⚠
- p.Gln251Pro Single submitter ⚠
- p.Gln490Arg Single submitter ⚠
- p.Gln610His Single submitter ⚠
- p.Gln610Pro Single submitter ⚠
- p.Gln61Glu Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu81Lys Single submitter ⚠
- p.Gly140Arg Single submitter ⚠
- p.Gly22Arg Single submitter ⚠
- p.Gly262Asp Single submitter ⚠
- p.Gly352Arg Single submitter
- p.Gly383Arg Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.Gly512Cys Single submitter ⚠
- p.Gly614Arg Single submitter ⚠
- p.His117Arg Single submitter ⚠
- p.His329Arg Single submitter ⚠
- p.His335Pro Single submitter ⚠
- p.His389Arg Single submitter ⚠
- p.His450Leu Single submitter ⚠
- p.Ile214Met Single submitter ⚠
- p.Ile351Met Single submitter ⚠
- p.Ile387Val Single submitter ⚠
- p.Ile474Thr Single submitter ⚠
- p.Ile561Met Single submitter
- p.Leu373Ile Single submitter ⚠
- p.Leu509Val Single submitter ⚠
- p.Leu601Phe Single submitter ⚠
- p.Lys144Thr Single submitter ⚠
- p.Lys153Asn Single submitter ⚠
- p.Lys159Glu Single submitter ⚠
- p.Lys31Arg Single submitter ⚠
- p.Lys371Thr Single submitter ⚠
- p.Lys412Gln Single submitter ⚠
- p.Lys452Asn Single submitter ⚠
- p.Lys558Glu Single submitter ⚠
- p.Met12Val Single submitter ⚠
- p.Met300Thr Single submitter ⚠
- p.Phe296Leu Single submitter ⚠
- p.Phe595Leu Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro284Leu Single submitter ⚠
- p.Pro405Leu Single submitter ⚠
- p.Pro457Arg Single submitter ⚠
- p.Pro602Ser Single submitter ⚠
- p.Pro78Ser Single submitter
- p.Ser400Arg Single submitter ⚠
- p.Ser41Asn Single submitter ⚠
- p.Ser484Thr Single submitter ⚠
- p.Ser495Leu Single submitter ⚠
- p.Ser76Phe Single submitter ⚠
- p.Thr500Met Single submitter ⚠
- p.Thr572Met Single submitter ⚠
- p.Tyr125Cys Single submitter ⚠
- p.Val201Met Single submitter ⚠
- p.Val224Leu Single submitter ⚠
- p.Val315Leu Single submitter ⚠