PDK2 — 29 ClinVar variants
All ClinVar germline PDK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
2 Benign · 1 Likely benign · 26 Uncertain significance
Full PDK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDK2 p.Ala337Thr Uncertain significance Single submitter
- PDK2 p.Ala378Val Uncertain significance Single submitter
- PDK2 p.Arg162Cys Uncertain significance Single submitter
- PDK2 p.Arg291Gln Uncertain significance Single submitter
- PDK2 p.Arg405Cys Uncertain significance Single submitter
- PDK2 p.Asn69Lys Uncertain significance Single submitter
- PDK2 p.Asp114Gly Uncertain significance Single submitter
- PDK2 p.Asp143Asn Uncertain significance Single submitter
- PDK2 p.Gln315Glu Uncertain significance Single submitter
- PDK2 p.Gln82Leu Uncertain significance Single submitter
- PDK2 p.Gly15Val Uncertain significance Single submitter
- PDK2 p.Gly319Arg Uncertain significance Single submitter
- PDK2 p.Leu7Pro Uncertain significance Single submitter
- PDK2 p.Lys399Glu Uncertain significance Single submitter
- PDK2 p.Met217Val Uncertain significance Single submitter
- PDK2 p.Pro103Ser Uncertain significance Single submitter
- PDK2 p.Pro394His Uncertain significance Single submitter
- PDK2 p.Ser289Asn Uncertain significance Single submitter
- PDK2 p.Thr318Ile Uncertain significance Single submitter
- PDK2 p.Val117Ile Uncertain significance Single submitter
- PDK2 p.Val295Ile Uncertain significance Single submitter
- PDK2 p.Val406Ile Uncertain significance Single submitter
- PDK2 p.Val59Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PDK2 variants
Likely benign 1
- p.Thr140Ala Single submitter
Uncertain significance 26
- p.Ala337Thr Single submitter ⚠
- p.Ala378Val Single submitter ⚠
- p.Arg162Cys Single submitter ⚠
- p.Arg291Gln Single submitter ⚠
- p.Arg405Cys Single submitter ⚠
- p.Asn69Lys Single submitter ⚠
- p.Asp114Gly Single submitter ⚠
- p.Asp143Asn Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Gln315Glu Single submitter ⚠
- p.Gln82Leu Single submitter ⚠
- p.Gly15Val Single submitter ⚠
- p.Gly319Arg Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys399Glu Single submitter ⚠
- p.Met217Val Single submitter ⚠
- p.Phe23Cys Single submitter ⚠
- p.Pro103Ser Single submitter ⚠
- p.Pro394His Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Ser289Asn Single submitter ⚠
- p.Thr318Ile Single submitter ⚠
- p.Val117Ile Single submitter ⚠
- p.Val295Ile Single submitter ⚠
- p.Val406Ile Single submitter ⚠
- p.Val59Met Single submitter ⚠