PANK3 — 22 ClinVar variants
All ClinVar germline PANK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 21 Uncertain significance
Full PANK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PANK3 p.Arg281Gln Uncertain significance Single submitter
- PANK3 p.Asn155Ser Uncertain significance Single submitter
- PANK3 p.Asn178Ser Uncertain significance Single submitter
- PANK3 p.Asn368Asp Uncertain significance Single submitter
- PANK3 p.Asn81Asp Uncertain significance Single submitter
- PANK3 p.Glu236Gln Uncertain significance Single submitter
- PANK3 p.Gly365Glu Uncertain significance Single submitter
- PANK3 p.His132Arg Uncertain significance Single submitter
- PANK3 p.Ile128Val Uncertain significance Single submitter
- PANK3 p.Leu324Phe Uncertain significance Single submitter
- PANK3 p.Met307Thr Uncertain significance Single submitter
- PANK3 p.Pro182Thr Uncertain significance Single submitter
- PANK3 p.Thr21Ser Uncertain significance Single submitter
- PANK3 p.Thr293Ile Uncertain significance Single submitter
- PANK3 p.Thr94Ala Uncertain significance Single submitter
- PANK3 p.Tyr161Cys Uncertain significance Single submitter
- PANK3 p.Val284Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PANK3 variants
Benign 1
- c.29-11dup Single submitter
Uncertain significance 21
- p.Arg281Gln Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Asn155Ser Single submitter ⚠
- p.Asn178Ser Single submitter ⚠
- p.Asn368Asp Single submitter ⚠
- p.Asn81Asp Single submitter ⚠
- p.Asp150Glu Single submitter ⚠
- p.Glu236Gln Single submitter ⚠
- p.Gly365Glu Single submitter ⚠
- p.His132Arg Single submitter ⚠
- p.Ile128Val Single submitter ⚠
- p.Ile190Val Single submitter ⚠
- p.Leu324Phe Single submitter ⚠
- p.Leu364Ile Single submitter ⚠
- p.Met307Thr Single submitter ⚠
- p.Pro182Thr Single submitter ⚠
- p.Thr21Ser Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr94Ala Single submitter ⚠
- p.Tyr161Cys Single submitter ⚠
- p.Val284Ile Single submitter ⚠