MLLT1 — 64 ClinVar variants
All ClinVar germline MLLT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Likely pathogenic · 1 Benign · 2 Likely benign · 60 Uncertain significance
Full MLLT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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MLLT1 p.Arg473Gln
Likely pathogenic
No assertion criteria
Global developmental delay
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MLLT1 p.Ala290Thr Uncertain significance Single submitter
- MLLT1 p.Ala297Gly Uncertain significance Single submitter
- MLLT1 p.Ala330Ser Uncertain significance Single submitter
- MLLT1 p.Ala353Thr Uncertain significance Single submitter
- MLLT1 p.Arg137Gln Uncertain significance Single submitter
- MLLT1 p.Arg206Cys Uncertain significance Single submitter
- MLLT1 p.Arg206His Uncertain significance Single submitter
- MLLT1 p.Arg231Gln Uncertain significance Single submitter
- MLLT1 p.Arg309Gln Uncertain significance Single submitter
- MLLT1 p.Arg348Gln Uncertain significance Single submitter
- MLLT1 p.Arg403Cys Uncertain significance Single submitter
- MLLT1 p.Arg455His Uncertain significance Single submitter
- MLLT1 p.Arg548His Uncertain significance Single submitter
- MLLT1 p.Asn430Lys Uncertain significance Single submitter
- MLLT1 p.Asn446Lys Uncertain significance Single submitter
- MLLT1 p.Asp157Asn Uncertain significance Single submitter
- MLLT1 p.Asp363Glu Uncertain significance Single submitter
- MLLT1 p.Asp449Asn Uncertain significance Single submitter
- MLLT1 p.Asp492Asn Uncertain significance Single submitter
- MLLT1 p.Asp536Asn Uncertain significance Single submitter
- MLLT1 p.Cys479Tyr Uncertain significance Single submitter
- MLLT1 p.Gln373Arg Uncertain significance Single submitter
- MLLT1 p.Gln410Arg Uncertain significance Single submitter
- MLLT1 p.Glu235Asp Uncertain significance Single submitter
- MLLT1 p.Glu355Asp Uncertain significance Single submitter
- MLLT1 p.Glu412Gln Uncertain significance Single submitter
- MLLT1 p.Glu544Lys Uncertain significance Single submitter
- MLLT1 p.Gly236Asp Uncertain significance Single submitter
- MLLT1 p.Gly313Ala Uncertain significance Single submitter
- MLLT1 p.Gly427Ser Uncertain significance Single submitter
- MLLT1 p.Ile44Phe Uncertain significance Single submitter
- MLLT1 p.Leu506Pro Uncertain significance Single submitter
- MLLT1 p.Lys252Arg Uncertain significance Single submitter
- MLLT1 p.Lys351Arg Uncertain significance Single submitter
- MLLT1 p.Lys368Thr Uncertain significance Single submitter
- MLLT1 p.Lys487Arg Uncertain significance Single submitter
- MLLT1 p.Phe324Ser Uncertain significance Single submitter
- MLLT1 p.Pro287Leu Uncertain significance Single submitter
- MLLT1 p.Pro459Arg Uncertain significance Single submitter
- MLLT1 p.Pro460Ala Uncertain significance Single submitter
- MLLT1 p.Pro464Ser Uncertain significance Single submitter
- MLLT1 p.Pro476Ser Uncertain significance Single submitter
- MLLT1 p.Ser265Ile Uncertain significance Single submitter
- MLLT1 p.Ser267Pro Uncertain significance Single submitter
- MLLT1 p.Ser296Gly Uncertain significance Single submitter
- MLLT1 p.Ser315Leu Uncertain significance Single submitter
- MLLT1 p.Ser325Leu Uncertain significance Single submitter
- MLLT1 p.Ser369Ala Uncertain significance Single submitter
- MLLT1 p.Ser380Thr Uncertain significance Single submitter
- MLLT1 p.Thr101Ser Uncertain significance Single submitter
- MLLT1 p.Thr129Met Uncertain significance Single submitter
- MLLT1 p.Thr150Lys Uncertain significance Single submitter
- MLLT1 p.Thr150Met Uncertain significance Single submitter
- MLLT1 p.Thr24Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- MLLT1 p.Arg309Trp Uncertain significance Single submitter
- MLLT1 p.Arg504Gly Uncertain significance Single submitter
- MLLT1 p.Pro276His Uncertain significance Single submitter
- MLLT1 p.Ser178Tyr Uncertain significance Single submitter
- MLLT1 p.Ser381Cys Uncertain significance Single submitter
- MLLT1 p.Ser419Cys Uncertain significance Single submitter
All MLLT1 variants
Likely pathogenic 1
- p.Arg473Gln No assertion criteria Global developmental delay ⚠
Benign 1
- p.Ser230Leu Multiple submitters
Likely benign 2
- p.Asn185Ser Single submitter
- p.Ser440= Single submitter
Uncertain significance 60
- p.Ala290Thr Single submitter ⚠
- p.Ala297Gly Single submitter ⚠
- p.Ala330Ser Single submitter ⚠
- p.Ala353Thr Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg206Cys Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg309Gln Single submitter ⚠
- p.Arg309Trp Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg403Cys Single submitter ⚠
- p.Arg455His Single submitter ⚠
- p.Arg504Gly Single submitter ⚠
- p.Arg548His Single submitter ⚠
- p.Asn430Lys Single submitter ⚠
- p.Asn446Lys Single submitter ⚠
- p.Asp157Asn Single submitter ⚠
- p.Asp363Glu Single submitter ⚠
- p.Asp449Asn Single submitter ⚠
- p.Asp492Asn Single submitter ⚠
- p.Asp536Asn Single submitter ⚠
- p.Cys479Tyr Single submitter ⚠
- p.Gln373Arg Single submitter ⚠
- p.Gln410Arg Single submitter ⚠
- p.Glu235Asp Single submitter ⚠
- p.Glu355Asp Single submitter ⚠
- p.Glu412Gln Single submitter ⚠
- p.Glu544Lys Single submitter ⚠
- p.Gly236Asp Single submitter ⚠
- p.Gly313Ala Single submitter ⚠
- p.Gly427Ser Single submitter ⚠
- p.Ile44Phe Single submitter ⚠
- p.Leu506Pro Single submitter ⚠
- p.Lys252Arg Single submitter ⚠
- p.Lys351Arg Single submitter ⚠
- p.Lys368Thr Single submitter ⚠
- p.Lys487Arg Single submitter ⚠
- p.Phe324Ser Single submitter ⚠
- p.Pro276His Single submitter ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro459Arg Single submitter ⚠
- p.Pro460Ala Single submitter ⚠
- p.Pro464Ser Single submitter ⚠
- p.Pro476Ser Single submitter ⚠
- p.Ser178Tyr Single submitter ⚠
- p.Ser265Ile Single submitter ⚠
- p.Ser267Pro Single submitter ⚠
- p.Ser296Gly Single submitter ⚠
- p.Ser315Leu Single submitter ⚠
- p.Ser325Leu Single submitter ⚠
- p.Ser369Ala Single submitter ⚠
- p.Ser380Thr Single submitter ⚠
- p.Ser381Cys Single submitter ⚠
- p.Ser419Cys Single submitter ⚠
- p.Thr101Ser Single submitter ⚠
- p.Thr129Met Single submitter ⚠
- p.Thr150Lys Single submitter ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr24Ile Single submitter ⚠