TPD52L2 — 35 ClinVar variants
All ClinVar germline TPD52L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 3 Likely benign · 31 Uncertain significance
Full TPD52L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TPD52L2 p.Ala33Val Uncertain significance Single submitter
- TPD52L2 p.Arg170Gln Uncertain significance Single submitter
- TPD52L2 p.Arg34Trp Uncertain significance Single submitter
- TPD52L2 p.Asn117Ser Uncertain significance Single submitter
- TPD52L2 p.Gly185Ser Uncertain significance Single submitter
- TPD52L2 p.Ile174Arg Uncertain significance Single submitter
- TPD52L2 p.Leu83Phe Uncertain significance Single submitter
- TPD52L2 p.Leu93Pro Uncertain significance Single submitter
- TPD52L2 p.Met22Thr Uncertain significance Single submitter
- TPD52L2 p.Pro190Ser Uncertain significance Single submitter
- TPD52L2 p.Pro36Ser Uncertain significance Single submitter
- TPD52L2 p.Ser110Ala Uncertain significance Single submitter
- TPD52L2 p.Ser145Thr Uncertain significance Single submitter
- TPD52L2 p.Ser166Leu Uncertain significance Single submitter
- TPD52L2 p.Ser192Leu Uncertain significance Single submitter
- TPD52L2 p.Ser201Leu Uncertain significance Single submitter
- TPD52L2 p.Thr121Asn Uncertain significance Single submitter
- TPD52L2 p.Thr173Ile Uncertain significance Single submitter
- TPD52L2 p.Thr23Met Uncertain significance Single submitter
- TPD52L2 p.Thr54Ile Uncertain significance Single submitter
- TPD52L2 p.Val178Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- TPD52L2 p.Asn160Lys Uncertain significance Single submitter
- TPD52L2 p.Ser104Ile Uncertain significance Single submitter
- TPD52L2 p.Ser84Phe Uncertain significance Single submitter
- TPD52L2 p.Ser94Cys Uncertain significance Single submitter
- TPD52L2 p.Thr146Ile Uncertain significance Single submitter
- TPD52L2 p.Val171Leu Uncertain significance Single submitter
All TPD52L2 variants
Benign 1
- p.Val100Met Multiple submitters
Likely benign 3
- p.Ala204Thr Single submitter
- p.Gly30Ala Single submitter
- p.Ser104Asn Single submitter
Uncertain significance 31
- c.477-1595C>T Single submitter
- c.477-1612G>A Single submitter
- c.477-3167C>T Single submitter
- p.Ala33Val Single submitter ⚠
- p.Arg170Gln Single submitter ⚠
- p.Arg34Trp Single submitter ⚠
- p.Arg64Cys Single submitter
- p.Asn117Ser Single submitter ⚠
- p.Asn160Lys Single submitter ⚠
- p.Gly185Ser Single submitter ⚠
- p.Ile174Arg Single submitter ⚠
- p.Leu83Phe Single submitter ⚠
- p.Leu93Pro Single submitter ⚠
- p.Met22Thr Single submitter ⚠
- p.Pro190Ser Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Ser104Ile Single submitter ⚠
- p.Ser110Ala Single submitter ⚠
- p.Ser145Thr Single submitter ⚠
- p.Ser166Leu Single submitter ⚠
- p.Ser192Leu Single submitter ⚠
- p.Ser201Leu Single submitter ⚠
- p.Ser84Phe Single submitter ⚠
- p.Ser94Cys Single submitter ⚠
- p.Thr121Asn Single submitter ⚠
- p.Thr146Ile Single submitter ⚠
- p.Thr173Ile Single submitter ⚠
- p.Thr23Met Single submitter ⚠
- p.Thr54Ile Single submitter ⚠
- p.Val171Leu Single submitter ⚠
- p.Val178Ala Single submitter ⚠