TTL — 37 ClinVar variants
All ClinVar germline TTL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
4 Benign · 1 Likely benign · 32 Uncertain significance
Full TTL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TTL p.Ala133Val Uncertain significance Single submitter
- TTL p.Arg29Lys Uncertain significance Single submitter
- TTL p.Asn10Lys Uncertain significance Single submitter
- TTL p.Asn114Asp Uncertain significance Single submitter
- TTL p.Asn114Ser Uncertain significance Single submitter
- TTL p.Asn122Asp Uncertain significance Single submitter
- TTL p.Asn212Thr Uncertain significance Single submitter
- TTL p.Asp363Gly Uncertain significance Single submitter
- TTL p.Gln368Glu Uncertain significance Single submitter
- TTL p.Glu143Gly Uncertain significance Single submitter
- TTL p.Glu365Lys Uncertain significance Single submitter
- TTL p.Ile245Val Uncertain significance Single submitter
- TTL p.Ile283Met Uncertain significance Single submitter
- TTL p.Leu105Val Uncertain significance Single submitter
- TTL p.Pro362Gln Uncertain significance Single submitter
- TTL p.Pro95Ala Uncertain significance Single submitter
- TTL p.Ser273Asn Uncertain significance Single submitter
- TTL p.Ser357Gly Uncertain significance Single submitter
- TTL p.Ser84Thr Uncertain significance Single submitter
- TTL p.Thr103Ala Uncertain significance Single submitter
- TTL p.Thr272Ser Uncertain significance Single submitter
- TTL p.Tyr253Cys Uncertain significance No assertion criteria
Predictors split 9
The independent predictors disagree with each other — read with care.
- TTL p.Arg197His Uncertain significance Single submitter
- TTL p.Arg44Lys Uncertain significance Single submitter
- TTL p.Arg46Trp Uncertain significance Single submitter
- TTL p.Arg73His Uncertain significance Single submitter
- TTL p.Glu16Lys Uncertain significance Single submitter
- TTL p.Ser297Asn Uncertain significance Single submitter
- TTL p.Thr241Ala Uncertain significance Single submitter
- TTL p.Tyr135Cys Uncertain significance Single submitter
- TTL p.Val59Gly Uncertain significance Single submitter
All TTL variants
Benign 4
- c.237-9A>T Multiple submitters
- p.Ala133Thr Multiple submitters
- p.Asn145= Multiple submitters
- p.Ile201= Multiple submitters
Likely benign 1
- p.Ile120Val Single submitter
Uncertain significance 32
- p.Ala133Val Single submitter ⚠
- p.Arg197His Single submitter ⚠
- p.Arg29Lys Single submitter ⚠
- p.Arg44Lys Single submitter ⚠
- p.Arg46Trp Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asn10Lys Single submitter ⚠
- p.Asn114Asp Single submitter ⚠
- p.Asn114Ser Single submitter ⚠
- p.Asn122Asp Single submitter ⚠
- p.Asn212Thr Single submitter ⚠
- p.Asp363Gly Single submitter ⚠
- p.Gln368Glu Single submitter ⚠
- p.Glu143Gly Single submitter ⚠
- p.Glu16Lys Single submitter ⚠
- p.Glu365Lys Single submitter ⚠
- p.Gly195Ala Single submitter
- p.Ile245Val Single submitter ⚠
- p.Ile283Met Single submitter ⚠
- p.Leu105Val Single submitter ⚠
- p.Pro362Gln Single submitter ⚠
- p.Pro95Ala Single submitter ⚠
- p.Ser273Asn Single submitter ⚠
- p.Ser297Asn Single submitter ⚠
- p.Ser357Gly Single submitter ⚠
- p.Ser84Thr Single submitter ⚠
- p.Thr103Ala Single submitter ⚠
- p.Thr241Ala Single submitter ⚠
- p.Thr272Ser Single submitter ⚠
- p.Tyr135Cys Single submitter ⚠
- p.Val59Gly Single submitter ⚠
- p.Tyr253Cys No assertion criteria ⚠