L3MBTL1 — 134 ClinVar variants

All ClinVar germline L3MBTL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

1 Likely pathogenic · 1 Benign · 13 Likely benign · 119 Uncertain significance

Full L3MBTL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 103

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 15

The independent predictors disagree with each other — read with care.

All L3MBTL1 variants

Likely pathogenic 1

p.Glu681Ter Single submitter Inborn genetic diseases

Benign 1

p.Val220Ile Multiple submitters

Likely benign 13

p.Ala274Thr Single submitter
p.Asn511= Single submitter
p.Gln144Arg Single submitter
p.Ile308Val Single submitter
p.Leu822Pro Single submitter
p.Pro618Leu Single submitter
p.Ser226= Single submitter
p.Tyr626Cys Single submitter
p.Val823Leu Single submitter
c.361-57G>T No assertion criteria L3MBTL1-related disorder
p.Glu161Lys No assertion criteria L3MBTL1-related disorder
p.Gly28Arg No assertion criteria L3MBTL1-related disorder
p.Pro115Ser No assertion criteria L3MBTL1-related disorder

Uncertain significance 119

p.Ala199Val Single submitter ⚠
p.Ala415Thr Single submitter ⚠
p.Ala547Ser Single submitter ⚠
p.Ala554Thr Single submitter ⚠
p.Ala586Thr Single submitter ⚠
p.Ala739Val Single submitter ⚠
p.Ala763Val Single submitter ⚠
p.Arg359Cys Single submitter
p.Arg446Cys Single submitter ⚠
p.Arg534Gln Single submitter ⚠
p.Arg550His Single submitter ⚠
p.Arg633Gly Single submitter ⚠
p.Arg673Lys Single submitter ⚠
p.Arg677Gln Single submitter ⚠
p.Arg690Cys Single submitter ⚠
p.Arg690His Single submitter ⚠
p.Arg704Cys Single submitter ⚠
p.Arg704His Single submitter ⚠
p.Arg711Cys Single submitter ⚠
p.Arg716Gln Single submitter ⚠
p.Arg716Pro Single submitter ⚠
p.Arg793Cys Single submitter ⚠
p.Arg793His Single submitter ⚠
p.Arg803Gly Single submitter ⚠
p.Asn224Asp Single submitter ⚠
p.Asn374Ser Single submitter ⚠
p.Asn511Asp Single submitter ⚠
p.Asn552Ile Single submitter ⚠
p.Asp177His Single submitter ⚠
p.Asp181Asn Single submitter ⚠
p.Asp317Gly Single submitter ⚠
p.Asp474Ala Single submitter ⚠
p.Asp510Glu Single submitter ⚠
p.Asp650Asn Single submitter ⚠
p.Asp776Asn Single submitter ⚠
p.Asp826Gly Single submitter ⚠
p.Cys191Phe Single submitter ⚠
p.Cys354Arg Single submitter ⚠
p.Cys480Gly Single submitter ⚠
p.Gln172Arg Single submitter ⚠
p.Gln172His Single submitter ⚠
p.Gln198His Single submitter ⚠
p.Gln213Arg Single submitter ⚠
p.Gln340Arg Single submitter ⚠
p.Glu141Lys Single submitter ⚠
p.Glu151Lys Single submitter ⚠
p.Glu264Gly Single submitter ⚠
p.Glu299Ala Single submitter ⚠
p.Glu303Val Single submitter ⚠
p.Glu304Gln Single submitter ⚠
p.Glu367Val Single submitter ⚠
p.Glu686Asp Single submitter ⚠
p.Gly160Ser Single submitter ⚠
p.Gly336Ser Single submitter ⚠
p.Gly434Ala Single submitter ⚠
p.Gly575Asp Single submitter ⚠
p.Gly595Cys Single submitter ⚠
p.Gly595Ser Single submitter ⚠
p.Gly601Glu Single submitter ⚠
p.Gly707Ser Single submitter ⚠
p.His369Arg Single submitter ⚠
p.His567Arg Single submitter ⚠
p.His572Gln Single submitter ⚠
p.His631Tyr Single submitter ⚠
p.His705Gln Single submitter ⚠
p.His806Arg Single submitter ⚠
p.His840Leu Single submitter ⚠
p.His840Pro Single submitter ⚠
p.Leu235Phe Single submitter ⚠
p.Leu314Phe Single submitter ⚠
p.Leu330Pro Single submitter ⚠
p.Leu540Val Single submitter ⚠
p.Leu843Val Single submitter ⚠
p.Leu850Met Single submitter ⚠
p.Lys717Glu Single submitter ⚠
p.Met332Ile Single submitter ⚠
p.Pro137Ser Single submitter ⚠
p.Pro140Thr Single submitter ⚠
p.Pro178Leu Single submitter ⚠
p.Pro178Ser Single submitter ⚠
p.Pro182His Single submitter ⚠
p.Pro183Leu Single submitter ⚠
p.Pro277Arg Single submitter ⚠
p.Pro342Leu Single submitter ⚠
p.Pro432Ser Single submitter ⚠
p.Pro485His Single submitter ⚠
p.Pro535Ala Single submitter ⚠
p.Pro603Ser Single submitter ⚠
p.Pro607Leu Single submitter ⚠
p.Pro610Leu Single submitter ⚠
p.Pro613His Single submitter ⚠
p.Pro713Leu Single submitter ⚠
p.Pro719Leu Single submitter ⚠
p.Pro760Arg Single submitter ⚠
p.Ser225Phe Single submitter ⚠
p.Ser226Leu Single submitter ⚠
p.Ser297Leu Single submitter ⚠
p.Ser300Pro Single submitter ⚠
p.Ser313Gly Single submitter ⚠
p.Ser484Asn Single submitter ⚠
p.Ser741Leu Single submitter ⚠
p.Ser845Cys Single submitter ⚠
p.Ser860Asn Single submitter ⚠
p.Thr501Asn Single submitter ⚠
p.Thr600Arg Single submitter ⚠
p.Thr646Pro Single submitter ⚠
p.Thr660Ala Single submitter ⚠
p.Thr660Pro Single submitter ⚠
p.Thr727Met Single submitter ⚠
p.Thr786Ile Single submitter ⚠
p.Thr815Ile Single submitter ⚠
p.Trp472Cys Single submitter ⚠
p.Tyr476Phe Single submitter ⚠
p.Tyr580Cys Single submitter ⚠
p.Val350Leu Single submitter ⚠
p.Val350Met Single submitter ⚠
p.Val353Ile Single submitter ⚠
p.Val454Met Single submitter ⚠
p.Val558Met Single submitter ⚠