PICALM — 98 ClinVar variants
All ClinVar germline PICALM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
37 Benign · 6 Likely benign · 55 Uncertain significance
Full PICALM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PICALM p.Ala483Ser Uncertain significance Single submitter
- PICALM p.Ala590Val Uncertain significance Single submitter
- PICALM p.Asn499Asp Uncertain significance Single submitter
- PICALM p.Asn53Thr Uncertain significance Single submitter
- PICALM p.Asn589Thr Uncertain significance Single submitter
- PICALM p.Asp263Gly Uncertain significance Single submitter
- PICALM p.Asp392Gly Uncertain significance Single submitter
- PICALM p.Asp430Gly Uncertain significance Single submitter
- PICALM p.Asp430Val Uncertain significance Single submitter
- PICALM p.Cys230Arg Uncertain significance Single submitter
- PICALM p.Gln325Glu Uncertain significance Single submitter
- PICALM p.Glu321Gln Uncertain significance Single submitter
- PICALM p.Gly568Cys Uncertain significance Single submitter
- PICALM p.Gly568Ser Uncertain significance Single submitter
- PICALM p.Gly607Ser Uncertain significance Single submitter
- PICALM p.Ile433Leu Uncertain significance Single submitter
- PICALM p.Ile433Val Uncertain significance Single submitter
- PICALM p.Ile629Met Uncertain significance Single submitter
- PICALM p.Ile80Val Uncertain significance Single submitter
- PICALM p.Leu178Phe Uncertain significance Single submitter
- PICALM p.Leu440Phe Uncertain significance Single submitter
- PICALM p.Lys231Arg Uncertain significance Single submitter
- PICALM p.Lys388Asn Uncertain significance Single submitter
- PICALM p.Met369Thr Uncertain significance Single submitter
- PICALM p.Met593Val Uncertain significance Single submitter
- PICALM p.Met635Leu Uncertain significance Single submitter
- PICALM p.Pro360Ser Uncertain significance Single submitter
- PICALM p.Pro434Ala Uncertain significance Single submitter
- PICALM p.Pro473Ser Uncertain significance Single submitter
- PICALM p.Pro584Gln Uncertain significance Single submitter
- PICALM p.Ser435Gly Uncertain significance Single submitter
- PICALM p.Ser444Thr Uncertain significance Single submitter
- PICALM p.Ser520Ala Uncertain significance Single submitter
- PICALM p.Ser520Cys Uncertain significance Single submitter
- PICALM p.Ser619Asn Uncertain significance Single submitter
- PICALM p.Thr459Ala Uncertain significance Single submitter
- PICALM p.Thr460Ala Uncertain significance Single submitter
- PICALM p.Thr627Asn Uncertain significance Single submitter
- PICALM p.Val148Leu Uncertain significance Single submitter
- PICALM p.Val168Leu Uncertain significance Single submitter
- PICALM p.Val183Ile Uncertain significance Single submitter
- PICALM p.Val447Asp Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- PICALM p.Ala333Thr Uncertain significance Single submitter
- PICALM p.Arg636Gly Uncertain significance Single submitter
- PICALM p.Gly511Asp Uncertain significance Single submitter
- PICALM p.His84Tyr Uncertain significance Single submitter
- PICALM p.Ile629Thr Uncertain significance Single submitter
- PICALM p.Ser308Cys Uncertain significance Single submitter
- PICALM p.Ser537Tyr Uncertain significance Single submitter
- PICALM p.Thr82Ala Uncertain significance Single submitter
- PICALM p.Val192Leu Uncertain significance Single submitter
All PICALM variants
Benign 37
- c.1155-7T>A Multiple submitters
- c.1155-8C>T Multiple submitters
- c.1680-71T>G Multiple submitters
- c.1779+111T>C Multiple submitters
- c.1780-1710A>G Multiple submitters
- c.1944+177G>A Multiple submitters
- c.274-93T>C Multiple submitters
- c.349+205A>G Multiple submitters
- c.547-92G>A Multiple submitters
- c.766-15A>G Multiple submitters
- c.766-37T>G Multiple submitters
- c.808-111A>G Multiple submitters
- c.893+121A>G Multiple submitters
- p.Ala590= Multiple submitters
- p.Gln174= Multiple submitters
- p.Thr586= Multiple submitters
- p.Val405= Multiple submitters
- c.1259-180A>G Single submitter
- c.1259-299A>G Single submitter
- c.1516+301T>C Single submitter
- c.1517-307G>A Single submitter
- c.1840-241A>C Single submitter
- c.1840-296T>A Single submitter
- c.1945-284_1945-283del Single submitter
- c.273+293del Single submitter
- c.349+269G>C Single submitter
- c.350-217A>G Single submitter
- c.350-304_350-303insAT Single submitter
- c.452+302A>C Single submitter
- c.452+345T>G Single submitter
- c.453-288A>C Single submitter
- c.658+197G>A Single submitter
- c.659-68dup Single submitter
- c.766-190G>C Single submitter
- c.894-236A>G Single submitter
- c.894-306A>G Single submitter
- p.Leu314= Single submitter
Likely benign 6
- c.1409-7T>C Single submitter
- p.Ala411Pro Single submitter
- p.Ser533Asn Single submitter
- p.Thr102= Single submitter
- c.547-5C>T No assertion criteria PICALM-related disorder
- p.Ala195= No assertion criteria PICALM-related disorder
Uncertain significance 55
- c.274-1G>A Single submitter Marfanoid habitus and intellectual disability
- c.452+1G>A Single submitter
- p.Ala333Thr Single submitter ⚠
- p.Ala483Ser Single submitter ⚠
- p.Ala590Val Single submitter ⚠
- p.Arg636Gly Single submitter ⚠
- p.Asn499Asp Single submitter ⚠
- p.Asn53Thr Single submitter ⚠
- p.Asn589Thr Single submitter ⚠
- p.Asp263Gly Single submitter ⚠
- p.Asp392Gly Single submitter ⚠
- p.Asp430Gly Single submitter ⚠
- p.Asp430Val Single submitter ⚠
- p.Cys230Arg Single submitter ⚠
- p.Gln325Glu Single submitter ⚠
- p.Glu321Gln Single submitter ⚠
- p.Gly511Asp Single submitter ⚠
- p.Gly568Cys Single submitter ⚠
- p.Gly568Ser Single submitter ⚠
- p.Gly607Ser Single submitter ⚠
- p.His84Tyr Single submitter ⚠
- p.Ile433Leu Single submitter ⚠
- p.Ile433Val Single submitter ⚠
- p.Ile629Met Single submitter ⚠
- p.Ile629Thr Single submitter ⚠
- p.Ile80Val Single submitter ⚠
- p.Leu178Phe Single submitter ⚠
- p.Leu179Ile Single submitter
- p.Leu440Phe Single submitter ⚠
- p.Lys231Arg Single submitter ⚠
- p.Lys388Asn Single submitter ⚠
- p.Met369Thr Single submitter ⚠
- p.Met593Val Single submitter ⚠
- p.Met635Leu Single submitter ⚠
- p.Phe422Val Single submitter
- p.Pro360Ser Single submitter ⚠
- p.Pro434Ala Single submitter ⚠
- p.Pro473Ser Single submitter ⚠
- p.Pro584Gln Single submitter ⚠
- p.Ser308Cys Single submitter ⚠
- p.Ser435Gly Single submitter ⚠
- p.Ser444Thr Single submitter ⚠
- p.Ser520Ala Single submitter ⚠
- p.Ser520Cys Single submitter ⚠
- p.Ser537Tyr Single submitter ⚠
- p.Ser619Asn Single submitter ⚠
- p.Thr459Ala Single submitter ⚠
- p.Thr460Ala Single submitter ⚠
- p.Thr627Asn Single submitter ⚠
- p.Thr82Ala Single submitter ⚠
- p.Val148Leu Single submitter ⚠
- p.Val168Leu Single submitter ⚠
- p.Val183Ile Single submitter ⚠
- p.Val192Leu Single submitter ⚠
- p.Val447Asp Single submitter ⚠