TLE6 — 155 ClinVar variants
All ClinVar germline TLE6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 11 Benign · 1 Benign/Likely benign · 34 Likely benign · 100 Uncertain significance
Full TLE6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TLE6 p.Ala207Thr Uncertain significance Multiple submitters
- TLE6 p.Ala102Gly Uncertain significance Single submitter
- TLE6 p.Ala207Gly Uncertain significance Single submitter
- TLE6 p.Ala257Gly Uncertain significance Single submitter
- TLE6 p.Ala263Gly Uncertain significance Single submitter
- TLE6 p.Ala335Thr Uncertain significance Single submitter
- TLE6 p.Ala366Val Uncertain significance Single submitter
- TLE6 p.Arg134Trp Uncertain significance Single submitter
- TLE6 p.Arg242Gln Uncertain significance Single submitter
- TLE6 p.Arg299Trp Uncertain significance Single submitter
- TLE6 p.Arg338Cys Uncertain significance Single submitter
- TLE6 p.Arg347Ser Uncertain significance Single submitter
- TLE6 p.Arg494Gln Uncertain significance Single submitter
- TLE6 p.Arg555Cys Uncertain significance Single submitter
- TLE6 p.Asn140Lys Uncertain significance Single submitter
- TLE6 p.Asn140Ser Uncertain significance Single submitter
- TLE6 p.Asn355Lys Uncertain significance Single submitter
- TLE6 p.Asp157Asn Uncertain significance Single submitter
- TLE6 p.Asp201Asn Uncertain significance Single submitter
- TLE6 p.Asp256Ala Uncertain significance Single submitter
- TLE6 p.Asp262Asn Uncertain significance Single submitter
- TLE6 p.Asp523Glu Uncertain significance Single submitter
- TLE6 p.Cys275Arg Uncertain significance Single submitter
- TLE6 p.Gln145Arg Uncertain significance Single submitter
- TLE6 p.Gln514His Uncertain significance Single submitter
-
TLE6 p.Glu117Lys
Uncertain significance
Single submitter
Preimplantation embryonic lethality 1
- TLE6 p.Glu173Asp Uncertain significance Single submitter
- TLE6 p.Glu278Gly Uncertain significance Single submitter
- TLE6 p.Glu320Asp Uncertain significance Single submitter
- TLE6 p.Glu538Lys Uncertain significance Single submitter
- TLE6 p.Glu53Lys Uncertain significance Single submitter
- TLE6 p.Gly137Arg Uncertain significance Single submitter
- TLE6 p.Gly169Ser Uncertain significance Single submitter
- TLE6 p.Gly199Arg Uncertain significance Single submitter
- TLE6 p.Gly231Val Uncertain significance Single submitter
- TLE6 p.Gly438Cys Uncertain significance Single submitter
- TLE6 p.Gly491Arg Uncertain significance Single submitter
- TLE6 p.Gly526Asp Uncertain significance Single submitter
- TLE6 p.His285Arg Uncertain significance Single submitter
- TLE6 p.His468Tyr Uncertain significance Single submitter
- TLE6 p.His62Arg Uncertain significance Single submitter
- TLE6 p.His71Asn Uncertain significance Single submitter
- TLE6 p.Ile123Phe Uncertain significance Single submitter
- TLE6 p.Ile247Val Uncertain significance Single submitter
- TLE6 p.Ile57Val Uncertain significance Single submitter
- TLE6 p.Ile75Met Uncertain significance Single submitter
- TLE6 p.Leu264Phe Uncertain significance Single submitter
- TLE6 p.Leu341Met Uncertain significance Single submitter
- TLE6 p.Leu369Met Uncertain significance Single submitter
- TLE6 p.Leu525Pro Uncertain significance Single submitter
- TLE6 p.Lys425Arg Uncertain significance Single submitter
- TLE6 p.Met124Val Uncertain significance Single submitter
- TLE6 p.Met280Val Uncertain significance Single submitter
- TLE6 p.Met496Val Uncertain significance Single submitter
- TLE6 p.Met542Val Uncertain significance Single submitter
- TLE6 p.Pro13Gln Uncertain significance Single submitter
- TLE6 p.Pro198Ser Uncertain significance Single submitter
- TLE6 p.Pro210Ser Uncertain significance Single submitter
- TLE6 p.Pro212Thr Uncertain significance Single submitter
- TLE6 p.Pro213Ser Uncertain significance Single submitter
- TLE6 p.Pro219Ala Uncertain significance Single submitter
- TLE6 p.Pro220Arg Uncertain significance Single submitter
- TLE6 p.Pro29Leu Uncertain significance Single submitter
- TLE6 p.Pro333Ser Uncertain significance Single submitter
- TLE6 p.Pro367Leu Uncertain significance Single submitter
- TLE6 p.Pro470Leu Uncertain significance Single submitter
- TLE6 p.Pro511Ala Uncertain significance Single submitter
- TLE6 p.Ser118Leu Uncertain significance Single submitter
- TLE6 p.Ser128Pro Uncertain significance Single submitter
- TLE6 p.Ser129Tyr Uncertain significance Single submitter
- TLE6 p.Ser343Pro Uncertain significance Single submitter
- TLE6 p.Ser358Thr Uncertain significance Single submitter
- TLE6 p.Ser412Gly Uncertain significance Single submitter
- TLE6 p.Ser426Thr Uncertain significance Single submitter
- TLE6 p.Ser543Cys Uncertain significance Single submitter
- TLE6 p.Ser543Phe Uncertain significance Single submitter
- TLE6 p.Thr106Met Uncertain significance Single submitter
- TLE6 p.Thr144Ile Uncertain significance Single submitter
- TLE6 p.Thr292Met Uncertain significance Single submitter
- TLE6 p.Thr298Met Uncertain significance Single submitter
- TLE6 p.Thr546Lys Uncertain significance Single submitter
- TLE6 p.Tyr528His Uncertain significance Single submitter
- TLE6 p.Tyr58Cys Uncertain significance Single submitter
- TLE6 p.Val273Ile Uncertain significance Single submitter
- TLE6 p.Val311Met Uncertain significance Single submitter
- TLE6 p.Val361Met Uncertain significance Single submitter
- TLE6 p.Val414Ile Uncertain significance Single submitter
- TLE6 p.Val428Met Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- TLE6 p.Ala291Thr Uncertain significance Single submitter
- TLE6 p.Arg281Trp Uncertain significance Single submitter
- TLE6 p.Cys548Tyr Uncertain significance Single submitter
- TLE6 p.Gly286Arg Uncertain significance Single submitter
- TLE6 p.His495Asp Uncertain significance Single submitter
- TLE6 p.Ile294Ser Uncertain significance Single submitter
- TLE6 p.Lys276Ile Uncertain significance Single submitter
- TLE6 p.Phe120Leu Likely benign Single submitter
- TLE6 p.Ser426Arg Uncertain significance Single submitter
-
TLE6 p.Ser510Tyr
Likely pathogenic
Single submitter
Preimplantation embryonic lethality 1
- TLE6 p.Thr436Ile Uncertain significance Single submitter
- TLE6 p.Val289Leu Uncertain significance Single submitter
- TLE6 p.Val301Met Uncertain significance Single submitter
- TLE6 p.Val507Ile Conflicting Single submitter
All TLE6 variants
Pathogenic 2
- p.Gly352Arg Single submitter Preimplantation embryonic lethality 1
- p.Ser223fs Single submitter
Pathogenic/Likely pathogenic 1
- p.Ala378fs Multiple submitters Preimplantation embryonic lethality 1
Likely pathogenic 5
- c.741-1G>C Single submitter
- p.Gln383Ter Single submitter Preimplantation embryonic lethality 1
- p.Ser510Tyr Single submitter Preimplantation embryonic lethality 1 ⚠
- p.Thr126fs Single submitter Preimplantation embryonic lethality 1
- p.Lys269fs No assertion criteria Preimplantation embryonic lethality 1
Conflicting classifications of pathogenicity 1
- p.Val507Ile Single submitter ⚠
Benign 11
- c.1537+7G>A Multiple submitters
- p.His285= Multiple submitters
- p.Ser490= Multiple submitters
- p.Val429= Multiple submitters
- c.1615-6C>T Single submitter
- p.Asn392= Single submitter
- c.1387-3T>C No assertion criteria TLE6-related disorder
- p.Asp386= No assertion criteria TLE6-related disorder
- p.Gln6His No assertion criteria TLE6-related disorder
- p.Pro540= No assertion criteria TLE6-related disorder
- p.Thr546= No assertion criteria TLE6-related disorder
Benign/Likely benign 1
- p.His564= Multiple submitters
Likely benign 34
- p.Glu287= Multiple submitters
- c.135-15_135-12dup Single submitter
- c.52-46G>A Single submitter Preimplantation embryonic lethality 1
- p.Ala532Thr Single submitter
- p.Arg281= Single submitter
- p.Glu143Asp Single submitter
- p.Glu538Gln Single submitter
- p.Glu94= Single submitter
- p.Gly137Glu Single submitter
- p.Gly266Trp Single submitter
- p.Gly562Arg Single submitter
- p.Ile330Val Single submitter
- p.Phe120Leu Single submitter ⚠
- p.Phe524Leu Single submitter
- p.Pro13Leu Single submitter
- p.Pro18Ala Single submitter
- p.Pro265= Single submitter
- p.Pro439Leu Single submitter
- p.Ser195= Single submitter
- p.Ser348Thr Single submitter
- p.Ser561= Single submitter
- p.Thr546Met Single submitter
- p.Tyr354His Single submitter
- p.Val233= Single submitter
- p.Val527Ile Single submitter
- p.Val550Ile Single submitter
- p.Val557Ile Single submitter
- c.1615-5del No assertion criteria TLE6-related disorder
- c.1615-7C>A No assertion criteria TLE6-related disorder
- c.993+8C>T No assertion criteria TLE6-related disorder
- p.Ala365= No assertion criteria TLE6-related disorder
- p.Gln487= No assertion criteria TLE6-related disorder
- p.Gly423= No assertion criteria TLE6-related disorder
- p.Tyr528= No assertion criteria TLE6-related disorder
Uncertain significance 100
- p.Ala207Thr Multiple submitters ⚠
- p.Ala102Gly Single submitter ⚠
- p.Ala207Gly Single submitter ⚠
- p.Ala257Gly Single submitter ⚠
- p.Ala263Gly Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala366Val Single submitter ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Arg299Trp Single submitter ⚠
- p.Arg338Cys Single submitter ⚠
- p.Arg347Ser Single submitter ⚠
- p.Arg494Gln Single submitter ⚠
- p.Arg555Cys Single submitter ⚠
- p.Asn140Lys Single submitter ⚠
- p.Asn140Ser Single submitter ⚠
- p.Asn355Lys Single submitter ⚠
- p.Asn77= Single submitter
- p.Asp157Asn Single submitter ⚠
- p.Asp201Asn Single submitter ⚠
- p.Asp256Ala Single submitter ⚠
- p.Asp262Asn Single submitter ⚠
- p.Asp523Glu Single submitter ⚠
- p.Cys275Arg Single submitter ⚠
- p.Cys548Tyr Single submitter ⚠
- p.Gln145Arg Single submitter ⚠
- p.Gln514His Single submitter ⚠
- p.Glu117Lys Single submitter Preimplantation embryonic lethality 1 ⚠
- p.Glu173Asp Single submitter ⚠
- p.Glu278Gly Single submitter ⚠
- p.Glu320Asp Single submitter ⚠
- p.Glu538Lys Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Gly137Arg Single submitter ⚠
- p.Gly169Ser Single submitter ⚠
- p.Gly199Arg Single submitter ⚠
- p.Gly231Val Single submitter ⚠
- p.Gly286Arg Single submitter ⚠
- p.Gly438Cys Single submitter ⚠
- p.Gly491Arg Single submitter ⚠
- p.Gly526Asp Single submitter ⚠
- p.His285Arg Single submitter ⚠
- p.His468Tyr Single submitter ⚠
- p.His495Asp Single submitter ⚠
- p.His62Arg Single submitter ⚠
- p.His71Asn Single submitter ⚠
- p.Ile123Phe Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile294Ser Single submitter ⚠
- p.Ile57Val Single submitter ⚠
- p.Ile75Met Single submitter ⚠
- p.Leu264Phe Single submitter ⚠
- p.Leu341Met Single submitter ⚠
- p.Leu369Met Single submitter ⚠
- p.Leu525Pro Single submitter ⚠
- p.Lys276Ile Single submitter ⚠
- p.Lys425Arg Single submitter ⚠
- p.Met124Val Single submitter ⚠
- p.Met280Val Single submitter ⚠
- p.Met496Val Single submitter ⚠
- p.Met542Val Single submitter ⚠
- p.Pro13Gln Single submitter ⚠
- p.Pro198Ser Single submitter ⚠
- p.Pro210Ser Single submitter ⚠
- p.Pro212Thr Single submitter ⚠
- p.Pro213Ser Single submitter ⚠
- p.Pro219Ala Single submitter ⚠
- p.Pro220Arg Single submitter ⚠
- p.Pro29Leu Single submitter ⚠
- p.Pro333Ser Single submitter ⚠
- p.Pro367Leu Single submitter ⚠
- p.Pro470Leu Single submitter ⚠
- p.Pro511Ala Single submitter ⚠
- p.Ser118Leu Single submitter ⚠
- p.Ser128Pro Single submitter ⚠
- p.Ser129Tyr Single submitter ⚠
- p.Ser343Pro Single submitter ⚠
- p.Ser358Thr Single submitter ⚠
- p.Ser412Gly Single submitter ⚠
- p.Ser426Arg Single submitter ⚠
- p.Ser426Thr Single submitter ⚠
- p.Ser543Cys Single submitter ⚠
- p.Ser543Phe Single submitter ⚠
- p.Thr106Met Single submitter ⚠
- p.Thr144Ile Single submitter ⚠
- p.Thr292Met Single submitter ⚠
- p.Thr298Met Single submitter ⚠
- p.Thr436Ile Single submitter ⚠
- p.Thr546Lys Single submitter ⚠
- p.Tyr528His Single submitter ⚠
- p.Tyr58Cys Single submitter ⚠
- p.Val273Ile Single submitter ⚠
- p.Val289Leu Single submitter ⚠
- p.Val301Met Single submitter ⚠
- p.Val311Met Single submitter ⚠
- p.Val361Met Single submitter ⚠
- p.Val414Ile Single submitter ⚠
- p.Val428Met Single submitter ⚠