PANK1 — 32 ClinVar variants
All ClinVar germline PANK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
32 Uncertain significance
Full PANK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PANK1 p.Ala357Thr Uncertain significance Single submitter
- PANK1 p.Ala378Thr Uncertain significance Single submitter
- PANK1 p.Arg137Gln Uncertain significance Single submitter
- PANK1 p.Arg137Trp Uncertain significance Single submitter
- PANK1 p.Glu124Lys Uncertain significance Single submitter
- PANK1 p.Gly205Arg Uncertain significance Single submitter
- PANK1 p.Gly343Arg Uncertain significance Single submitter
- PANK1 p.His222Arg Uncertain significance Single submitter
- PANK1 p.Ile121Val Uncertain significance Single submitter
- PANK1 p.Ile173Met Uncertain significance Single submitter
- PANK1 p.Ile173Ser Uncertain significance Single submitter
- PANK1 p.Ile173Thr Uncertain significance Single submitter
- PANK1 p.Ile372Val Uncertain significance Single submitter
- PANK1 p.Lys134Arg Uncertain significance Single submitter
- PANK1 p.Lys263Arg Uncertain significance Single submitter
- PANK1 p.Met163Thr Uncertain significance Single submitter
- PANK1 p.Met364Lys Uncertain significance Single submitter
- PANK1 p.Met416Val Uncertain significance Single submitter
- PANK1 p.Met419Leu Uncertain significance Single submitter
- PANK1 p.Thr458Pro Uncertain significance Single submitter
- PANK1 p.Tyr236Cys Uncertain significance Single submitter
- PANK1 p.Val154Ile Uncertain significance Single submitter
- PANK1 p.Val406Met Uncertain significance Single submitter
- PANK1 p.Val448Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PANK1 p.Ala450Thr Uncertain significance Single submitter
- PANK1 p.Asp370Gly Uncertain significance Single submitter
- PANK1 p.Gly244Ser Uncertain significance Single submitter
- PANK1 p.Leu434Gln Uncertain significance Single submitter
- PANK1 p.Phe242Tyr Uncertain significance Single submitter
- PANK1 p.Pro264Leu Uncertain significance Single submitter
All PANK1 variants
Uncertain significance 32
- p.Ala357Thr Single submitter ⚠
- p.Ala378Thr Single submitter ⚠
- p.Ala450Thr Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Asn143Asp Single submitter
- p.Asp370Gly Single submitter ⚠
- p.Glu124Lys Single submitter ⚠
- p.Glu131Asp Single submitter
- p.Gly205Arg Single submitter ⚠
- p.Gly244Ser Single submitter ⚠
- p.Gly343Arg Single submitter ⚠
- p.His222Arg Single submitter ⚠
- p.Ile121Val Single submitter ⚠
- p.Ile173Met Single submitter ⚠
- p.Ile173Ser Single submitter ⚠
- p.Ile173Thr Single submitter ⚠
- p.Ile372Val Single submitter ⚠
- p.Leu434Gln Single submitter ⚠
- p.Lys134Arg Single submitter ⚠
- p.Lys263Arg Single submitter ⚠
- p.Met163Thr Single submitter ⚠
- p.Met364Lys Single submitter ⚠
- p.Met416Val Single submitter ⚠
- p.Met419Leu Single submitter ⚠
- p.Phe242Tyr Single submitter ⚠
- p.Pro264Leu Single submitter ⚠
- p.Thr458Pro Single submitter ⚠
- p.Tyr236Cys Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val406Met Single submitter ⚠
- p.Val448Ile Single submitter ⚠