TLL1 — 222 ClinVar variants
All ClinVar germline TLL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 34 Benign · 3 Benign/Likely benign · 43 Likely benign · 135 Uncertain significance
Full TLL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 129
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.
-
TLL1 p.Ile629Val
Pathogenic
No assertion criteria
atrial septal defect 6
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TLL1 p.Ala815Val Conflicting Single submitter
-
TLL1 p.Arg331Cys
Conflicting
Single submitter
TLL1-related disorder
-
TLL1 p.Arg928Gln
Conflicting
Single submitter
atrial septal defect 6
Predictors lean, ClinVar uncertain 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TLL1 p.Asn529Ser Uncertain significance Multiple submitters
-
TLL1 p.Leu682Ile
Uncertain significance
Multiple submitters
atrial septal defect 6
- TLL1 p.Met182Val Uncertain significance Multiple submitters
- TLL1 p.Pro1006Leu Uncertain significance Multiple submitters
-
TLL1 p.Thr652Ser
Uncertain significance
Multiple submitters
atrial septal defect 6
- TLL1 p.Ala107Thr Uncertain significance Single submitter
- TLL1 p.Ala107Val Uncertain significance Single submitter
- TLL1 p.Ala29Ser Uncertain significance Single submitter
- TLL1 p.Ala29Thr Uncertain significance Single submitter
- TLL1 p.Ala568Ser Uncertain significance Single submitter
- TLL1 p.Ala806Thr Uncertain significance Single submitter
- TLL1 p.Ala815Asp Uncertain significance Single submitter
-
TLL1 p.Ala872Thr
Uncertain significance
Single submitter
TLL1-related disorder
- TLL1 p.Ala959Thr Uncertain significance Single submitter
- TLL1 p.Arg175Thr Uncertain significance Single submitter
- TLL1 p.Arg196Ile Uncertain significance Single submitter
- TLL1 p.Arg757His Uncertain significance Single submitter
- TLL1 p.Arg811Gly Uncertain significance Single submitter
-
TLL1 p.Arg847Gln
Uncertain significance
Single submitter
atrial septal defect 6
- TLL1 p.Arg925Gln Uncertain significance Single submitter
- TLL1 p.Arg925Trp Uncertain significance Single submitter
- TLL1 p.Asn357Ser Uncertain significance Single submitter
- TLL1 p.Asn550Ser Uncertain significance Single submitter
- TLL1 p.Asn706Ser Uncertain significance Single submitter
- TLL1 p.Asn716Ser Uncertain significance Single submitter
- TLL1 p.Asn758Ser Uncertain significance Single submitter
- TLL1 p.Asn84Ile Uncertain significance Single submitter
- TLL1 p.Asp38Glu Uncertain significance Single submitter
- TLL1 p.Asp610Glu Uncertain significance Single submitter
- TLL1 p.Asp899Asn Uncertain significance Single submitter
-
TLL1 p.Cys210Tyr
Uncertain significance
Single submitter
atrial septal defect 6
- TLL1 p.Cys28Ser Uncertain significance Single submitter
- TLL1 p.Cys756Ser Uncertain significance Single submitter
-
TLL1 p.Gln914Arg
Uncertain significance
Single submitter
TLL1-related disorder
- TLL1 p.Glu266Gln Uncertain significance Single submitter
- TLL1 p.Glu42Gly Uncertain significance Single submitter
- TLL1 p.Glu543Ala Uncertain significance Single submitter
-
TLL1 p.Glu577Lys
Uncertain significance
Single submitter
atrial septal defect 6
- TLL1 p.Glu664Lys Uncertain significance Single submitter
- TLL1 p.Glu666Gln Uncertain significance Single submitter
- TLL1 p.Glu685Lys Uncertain significance Single submitter
- TLL1 p.Glu803Lys Uncertain significance Single submitter
-
TLL1 p.Gly138Arg
Uncertain significance
Single submitter
TLL1-related disorder
- TLL1 p.Gly229Val Uncertain significance Single submitter
- TLL1 p.Gly271Asp Uncertain significance Single submitter
- TLL1 p.Gly358Asp Uncertain significance Single submitter
- TLL1 p.Gly560Arg Uncertain significance Single submitter
- TLL1 p.Gly608Ser Uncertain significance Single submitter
- TLL1 p.Gly619Asp Uncertain significance Single submitter
-
TLL1 p.Gly619Val
Uncertain significance
Single submitter
atrial septal defect 6
- TLL1 p.Gly681Val Uncertain significance Single submitter
- TLL1 p.Gly694Asp Uncertain significance Single submitter
- TLL1 p.Gly90Glu Uncertain significance Single submitter
- TLL1 p.Gly954Asp Uncertain significance Single submitter
- TLL1 p.Gly961Arg Uncertain significance Single submitter
- TLL1 p.Gly961Val Uncertain significance Single submitter
- TLL1 p.His374Arg Uncertain significance Single submitter
- TLL1 p.Ile162Val Uncertain significance Single submitter
- TLL1 p.Ile203Thr Uncertain significance Single submitter
- TLL1 p.Ile509Met Uncertain significance Single submitter
- TLL1 p.Ile533Leu Uncertain significance Single submitter
- TLL1 p.Ile533Met Uncertain significance Single submitter
- TLL1 p.Ile72Val Uncertain significance Single submitter
- TLL1 p.Ile785Phe Uncertain significance Single submitter
- TLL1 p.Leu25Pro Uncertain significance Single submitter
- TLL1 p.Leu428Ser Uncertain significance Single submitter
- TLL1 p.Leu784Pro Uncertain significance Single submitter
- TLL1 p.Lys104Glu Uncertain significance Single submitter
- TLL1 p.Lys129Glu Uncertain significance Single submitter
- TLL1 p.Lys713Arg Uncertain significance Single submitter
- TLL1 p.Lys736Glu Uncertain significance Single submitter
- TLL1 p.Lys777Arg Uncertain significance Single submitter
- TLL1 p.Lys798Asn Uncertain significance Single submitter
- TLL1 p.Lys813Arg Uncertain significance Single submitter
- TLL1 p.Lys863Glu Uncertain significance Single submitter
- TLL1 p.Lys994Arg Uncertain significance Single submitter
- TLL1 p.Met308Val Uncertain significance Single submitter
- TLL1 p.Met749Val Uncertain significance Single submitter
- TLL1 p.Phe21Ser Uncertain significance Single submitter
- TLL1 p.Phe37Ser Uncertain significance Single submitter
- TLL1 p.Phe663Ser Uncertain significance Single submitter
- TLL1 p.Phe933Tyr Uncertain significance Single submitter
- TLL1 p.Pro146Leu Uncertain significance Single submitter
- TLL1 p.Pro163Arg Uncertain significance Single submitter
- TLL1 p.Pro531Ser Uncertain significance Single submitter
- TLL1 p.Pro635Leu Uncertain significance Single submitter
- TLL1 p.Pro640Ala Uncertain significance Single submitter
- TLL1 p.Pro970Gln Uncertain significance Single submitter
- TLL1 p.Ser286Leu Uncertain significance Single submitter
- TLL1 p.Ser613Arg Uncertain significance Single submitter
- TLL1 p.Ser751Asn Uncertain significance Single submitter
- TLL1 p.Thr1011Ala Uncertain significance Single submitter
- TLL1 p.Thr206Asn Uncertain significance Single submitter
- TLL1 p.Thr433Ser Uncertain significance Single submitter
- TLL1 p.Thr623Asn Uncertain significance Single submitter
- TLL1 p.Thr935Ala Uncertain significance Single submitter
- TLL1 p.Tyr291His Uncertain significance Single submitter
- TLL1 p.Tyr406Cys Uncertain significance Single submitter
-
TLL1 p.Val238Ala
Uncertain significance
Single submitter
atrial septal defect 6
- TLL1 p.Val261Ile Uncertain significance Single submitter
- TLL1 p.Val379Ile Uncertain significance Single submitter
- TLL1 p.Val431Asp Uncertain significance Single submitter
- TLL1 p.Val676Met Uncertain significance Single submitter
- TLL1 p.Val697Met Uncertain significance Single submitter
- TLL1 p.Val746Phe Uncertain significance Single submitter
- TLL1 p.Val922Ala Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
-
TLL1 p.Val557Leu
Uncertain significance
Multiple submitters
atrial septal defect 6
- TLL1 p.Ala56Thr Likely benign Single submitter
- TLL1 p.Ala616Pro Uncertain significance Single submitter
- TLL1 p.Arg535His Uncertain significance Single submitter
- TLL1 p.Arg583Cys Conflicting Single submitter
- TLL1 p.Arg709Lys Uncertain significance Single submitter
- TLL1 p.Arg811Gln Uncertain significance Single submitter
- TLL1 p.Arg867Gln Uncertain significance Single submitter
- TLL1 p.Asn550Asp Uncertain significance Single submitter
- TLL1 p.Asp899Ala Uncertain significance Single submitter
- TLL1 p.Glu677Asp Uncertain significance Single submitter
- TLL1 p.Gly889Arg Uncertain significance Single submitter
- TLL1 p.His883Gln Uncertain significance Single submitter
-
TLL1 p.Ile998Lys
Uncertain significance
Single submitter
atrial septal defect 6
- TLL1 p.Pro53Leu Uncertain significance Single submitter
- TLL1 p.Ser527Arg Uncertain significance Single submitter
- TLL1 p.Thr352Ile Uncertain significance Single submitter
- TLL1 p.Thr748Arg Uncertain significance Single submitter
- TLL1 p.Thr958Ile Uncertain significance Single submitter
All TLL1 variants
Pathogenic 2
- p.Ile629Val No assertion criteria atrial septal defect 6 ⚠
- p.Met182Leu No assertion criteria atrial septal defect 6
Likely pathogenic 1
- p.Tyr202Cys Single submitter atrial septal defect 6
Conflicting classifications of pathogenicity 4
- p.Ala815Val Single submitter ⚠
- p.Arg331Cys Single submitter TLL1-related disorder ⚠
- p.Arg583Cys Single submitter ⚠
- p.Arg928Gln Single submitter atrial septal defect 6 ⚠
Benign 34
- c.2188+7G>A Multiple submitters
- c.2443-30T>A Multiple submitters
- c.2443-31T>A Multiple submitters
- c.2656+50T>C Multiple submitters
- c.812-184C>A Multiple submitters
- c.917+76A>G Multiple submitters
- c.-228T>C Multiple submitters
- p.Leu31= Multiple submitters
- p.Thr958Ala Multiple submitters
- c.1158+192G>A Single submitter
- c.1159-128G>A Single submitter
- c.1525-163A>C Single submitter
- c.1846+79del Single submitter
- c.1847-136G>A Single submitter
- c.1847-213A>C Single submitter
- c.2007+303A>G Single submitter
- c.2008-142A>G Single submitter
- c.2188+110A>G Single submitter
- c.2314+192A>G Single submitter
- c.2314+259G>A Single submitter
- c.2443-143_2443-142insAT Single submitter
- c.2443-217G>A Single submitter
- c.2443-24_2443-23dup Single submitter
- c.2656+188T>C Single submitter
- c.2657-105C>T Single submitter
- c.2907+115dup Single submitter
- c.2908-214G>A Single submitter
- c.514+168G>A Single submitter
- c.917+9C>T Single submitter
- c.1043-9dup No assertion criteria TLL1-related disorder
- c.1159-10C>T No assertion criteria TLL1-related disorder
- p.Gly23Arg No assertion criteria TLL1-related disorder
- p.Ile545Val No assertion criteria TLL1-related disorder
- p.Pro808= No assertion criteria TLL1-related disorder
Benign/Likely benign 3
Likely benign 43
- c.811+6A>G Multiple submitters
- p.Asp559= Multiple submitters
- p.Thr153Met Multiple submitters
- c.1043-15_1043-14insA Single submitter
- c.1158+5023T>C Single submitter
- c.1378+11T>C Single submitter
- c.169+8G>T Single submitter
- c.1721-7T>C Single submitter
- c.2314+9C>T Single submitter
- c.2656+3C>G Single submitter
- c.280+13G>A Single submitter
- c.514+18T>C Single submitter
- c.515-5dup Single submitter
- c.811+15dup Single submitter
- p.Ala56Thr Single submitter ⚠
- p.Ala695Thr Single submitter
- p.Ala806= Single submitter
- p.Asn221Ser Single submitter
- p.Asn302= Single submitter
- p.Asn359= Single submitter
- p.Asn367Ser Single submitter
- p.Asn626= Single submitter
- p.Gln755= Single submitter
- p.Glu939= Single submitter
- p.Gly694= Single submitter
- p.Gly888= Single submitter
- p.Gly945= Single submitter
- p.His831Arg Single submitter
- p.Leu594= Single submitter
- p.Leu900= Single submitter
- p.Leu96Phe Single submitter
- p.Phe365= Single submitter
- p.Pro8Leu Single submitter
- p.Ser980= Single submitter
- p.Thr153= Single submitter
- p.Thr5Lys Single submitter
- p.Tyr519= Single submitter
- c.170-8T>C No assertion criteria TLL1-related disorder
- c.2189-5G>T No assertion criteria TLL1-related disorder
- c.*9C>T No assertion criteria TLL1-related disorder
- p.Asp411= No assertion criteria TLL1-related disorder
- p.Thr82Met No assertion criteria TLL1-related disorder
- p.Val191= No assertion criteria TLL1-related disorder
Uncertain significance 135
- p.Asn529Ser Multiple submitters ⚠
- p.Leu682Ile Multiple submitters atrial septal defect 6 ⚠
- p.Met182Val Multiple submitters ⚠
- p.Pro1006Leu Multiple submitters ⚠
- p.Thr652Ser Multiple submitters atrial septal defect 6 ⚠
- p.Val557Leu Multiple submitters atrial septal defect 6 ⚠
- c.1841_1846+3dup Single submitter TLL1-related disorder
- p.Ala107Thr Single submitter ⚠
- p.Ala107Val Single submitter ⚠
- p.Ala29Ser Single submitter ⚠
- p.Ala29Thr Single submitter ⚠
- p.Ala568Ser Single submitter ⚠
- p.Ala616Pro Single submitter ⚠
- p.Ala806Thr Single submitter ⚠
- p.Ala815Asp Single submitter ⚠
- p.Ala872Thr Single submitter TLL1-related disorder ⚠
- p.Ala959Thr Single submitter ⚠
- p.Arg175Thr Single submitter ⚠
- p.Arg196Ile Single submitter ⚠
- p.Arg535His Single submitter ⚠
- p.Arg709Lys Single submitter ⚠
- p.Arg757His Single submitter ⚠
- p.Arg811Gln Single submitter ⚠
- p.Arg811Gly Single submitter ⚠
- p.Arg847Gln Single submitter atrial septal defect 6 ⚠
- p.Arg867Gln Single submitter ⚠
- p.Arg925Gln Single submitter ⚠
- p.Arg925Trp Single submitter ⚠
- p.Asn357Ser Single submitter ⚠
- p.Asn448Thr Single submitter
- p.Asn550Asp Single submitter ⚠
- p.Asn550Ser Single submitter ⚠
- p.Asn706Ser Single submitter ⚠
- p.Asn716Ser Single submitter ⚠
- p.Asn758Ser Single submitter ⚠
- p.Asn84Ile Single submitter ⚠
- p.Asp38Glu Single submitter ⚠
- p.Asp395Asn Single submitter
- p.Asp610Glu Single submitter ⚠
- p.Asp792Tyr Single submitter atrial septal defect 6
- p.Asp899Ala Single submitter ⚠
- p.Asp899Asn Single submitter ⚠
- p.Cys210Tyr Single submitter atrial septal defect 6 ⚠
- p.Cys28Ser Single submitter ⚠
- p.Cys756Ser Single submitter ⚠
- p.Gln914Arg Single submitter TLL1-related disorder ⚠
- p.Glu266Gln Single submitter ⚠
- p.Glu42Gly Single submitter ⚠
- p.Glu543Ala Single submitter ⚠
- p.Glu577Lys Single submitter atrial septal defect 6 ⚠
- p.Glu664Lys Single submitter ⚠
- p.Glu666Gln Single submitter ⚠
- p.Glu677Asp Single submitter ⚠
- p.Glu685Lys Single submitter ⚠
- p.Glu803Lys Single submitter ⚠
- p.Gly138Arg Single submitter TLL1-related disorder ⚠
- p.Gly229Val Single submitter ⚠
- p.Gly271Asp Single submitter ⚠
- p.Gly358Asp Single submitter ⚠
- p.Gly560Arg Single submitter ⚠
- p.Gly608Ser Single submitter ⚠
- p.Gly619Asp Single submitter ⚠
- p.Gly619Val Single submitter atrial septal defect 6 ⚠
- p.Gly681Val Single submitter ⚠
- p.Gly694Asp Single submitter ⚠
- p.Gly889Arg Single submitter ⚠
- p.Gly90Glu Single submitter ⚠
- p.Gly954Asp Single submitter ⚠
- p.Gly961Arg Single submitter ⚠
- p.Gly961Val Single submitter ⚠
- p.His374Arg Single submitter ⚠
- p.His883Gln Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile203Thr Single submitter ⚠
- p.Ile509Met Single submitter ⚠
- p.Ile533Leu Single submitter ⚠
- p.Ile533Met Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Ile785Phe Single submitter ⚠
- p.Ile998Lys Single submitter atrial septal defect 6 ⚠
- p.Leu25Pro Single submitter ⚠
- p.Leu353= Single submitter
- p.Leu428Ser Single submitter ⚠
- p.Leu784Pro Single submitter ⚠
- p.Lys104Glu Single submitter ⚠
- p.Lys129Glu Single submitter ⚠
- p.Lys713Arg Single submitter ⚠
- p.Lys736Glu Single submitter ⚠
- p.Lys777Arg Single submitter ⚠
- p.Lys798Asn Single submitter ⚠
- p.Lys813Arg Single submitter ⚠
- p.Lys863Glu Single submitter ⚠
- p.Lys994Arg Single submitter ⚠
- p.Met308Val Single submitter ⚠
- p.Met749Val Single submitter ⚠
- p.Phe21Ser Single submitter ⚠
- p.Phe37Ser Single submitter ⚠
- p.Phe663Ser Single submitter ⚠
- p.Phe728Ser Single submitter atrial septal defect 6
- p.Phe933Tyr Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro163Arg Single submitter ⚠
- p.Pro270Arg Single submitter
- p.Pro531Ser Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Pro635Leu Single submitter ⚠
- p.Pro640Ala Single submitter ⚠
- p.Pro970Gln Single submitter ⚠
- p.Ser286Leu Single submitter ⚠
- p.Ser527Arg Single submitter ⚠
- p.Ser558Thr Single submitter
- p.Ser613Arg Single submitter ⚠
- p.Ser751Asn Single submitter ⚠
- p.Thr1011Ala Single submitter ⚠
- p.Thr206Asn Single submitter ⚠
- p.Thr352Ile Single submitter ⚠
- p.Thr433Ser Single submitter ⚠
- p.Thr623Asn Single submitter ⚠
- p.Thr748Arg Single submitter ⚠
- p.Thr935Ala Single submitter ⚠
- p.Thr958Ile Single submitter ⚠
- p.Thr990Ala Single submitter
- p.Tyr1005Ter Single submitter atrial septal defect 6
- p.Tyr291His Single submitter ⚠
- p.Tyr406Cys Single submitter ⚠
- p.Val216Ile Single submitter
- p.Val238Ala Single submitter atrial septal defect 6 ⚠
- p.Val261Ile Single submitter ⚠
- p.Val379Ile Single submitter ⚠
- p.Val431Asp Single submitter ⚠
- p.Val676Met Single submitter ⚠
- p.Val697Met Single submitter ⚠
- p.Val746Phe Single submitter ⚠
- p.Val866Ala Single submitter
- p.Val922Ala Single submitter ⚠