PSIP1 — 66 ClinVar variants
All ClinVar germline PSIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
4 Benign · 2 Likely benign · 60 Uncertain significance
Full PSIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSIP1 p.Ala185Val Uncertain significance Single submitter
- PSIP1 p.Ala265Pro Uncertain significance Single submitter
- PSIP1 p.Ala32Asp Uncertain significance Single submitter
- PSIP1 p.Ala453Thr Uncertain significance Single submitter
- PSIP1 p.Asn103Asp Uncertain significance Single submitter
- PSIP1 p.Asn103Ser Uncertain significance Single submitter
- PSIP1 p.Asn479Ser Uncertain significance Single submitter
- PSIP1 p.Asn493Thr Uncertain significance Single submitter
- PSIP1 p.Asn503Lys Uncertain significance Single submitter
- PSIP1 p.Asp123Asn Uncertain significance Single submitter
- PSIP1 p.Asp249Gly Uncertain significance Single submitter
- PSIP1 p.Asp281Glu Uncertain significance Single submitter
- PSIP1 p.Asp499Ala Uncertain significance Single submitter
- PSIP1 p.Asp529His Uncertain significance Single submitter
- PSIP1 p.Gln202Glu Uncertain significance Single submitter
- PSIP1 p.Glu126Asp Uncertain significance Single submitter
- PSIP1 p.Glu158Ala Uncertain significance Single submitter
- PSIP1 p.Glu158Gln Uncertain significance Single submitter
- PSIP1 p.Glu160Asp Uncertain significance Single submitter
- PSIP1 p.Glu308Asp Uncertain significance Single submitter
- PSIP1 p.Glu310Ala Uncertain significance Single submitter
- PSIP1 p.Glu469Gly Uncertain significance Single submitter
- PSIP1 p.Glu495Ala Uncertain significance Single submitter
- PSIP1 p.Glu515Gly Uncertain significance Single submitter
- PSIP1 p.Glu516Asp Uncertain significance Single submitter
- PSIP1 p.Glu516Gln Uncertain significance Single submitter
- PSIP1 p.Glu516Val Uncertain significance Single submitter
- PSIP1 p.Gly279Val Uncertain significance Single submitter
- PSIP1 p.Gly332Glu Uncertain significance Single submitter
- PSIP1 p.Gly460Glu Uncertain significance Single submitter
- PSIP1 p.Gly481Glu Uncertain significance Single submitter
- PSIP1 p.His124Gln Uncertain significance Single submitter
- PSIP1 p.His492Asn Uncertain significance Single submitter
- PSIP1 p.Ile521Thr Uncertain significance Single submitter
- PSIP1 p.Ile521Val Uncertain significance Single submitter
- PSIP1 p.Lys189Arg Uncertain significance Single submitter
- PSIP1 p.Lys219Asn Uncertain significance Single submitter
- PSIP1 p.Lys334Gln Uncertain significance Single submitter
- PSIP1 p.Met413Arg Uncertain significance Single submitter
- PSIP1 p.Pro248Thr Uncertain significance Single submitter
- PSIP1 p.Ser116Arg Uncertain significance Single submitter
- PSIP1 p.Ser208Arg Uncertain significance Single submitter
- PSIP1 p.Ser217Gly Uncertain significance Single submitter
- PSIP1 p.Ser434Ala Uncertain significance Single submitter
- PSIP1 p.Ser496Thr Uncertain significance Single submitter
- PSIP1 p.Ser507Gly Uncertain significance Single submitter
- PSIP1 p.Ser94Gly Uncertain significance Single submitter
- PSIP1 p.Thr134Ile Uncertain significance Single submitter
- PSIP1 p.Thr140Ala Uncertain significance Single submitter
- PSIP1 p.Thr267Ile Uncertain significance Single submitter
- PSIP1 p.Thr527Ala Uncertain significance Single submitter
- PSIP1 p.Val411Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PSIP1 p.Arg354Trp Uncertain significance Single submitter
- PSIP1 p.Gln384His Uncertain significance Single submitter
- PSIP1 p.Gly148Glu Uncertain significance Single submitter
- PSIP1 p.Gly432Arg Uncertain significance Single submitter
- PSIP1 p.His20Tyr Uncertain significance Single submitter
- PSIP1 p.Lys343Gln Uncertain significance Single submitter
- PSIP1 p.Lys407Thr Uncertain significance Single submitter
- PSIP1 p.Ser434Cys Uncertain significance Single submitter
All PSIP1 variants
Benign 4
- c.72+8A>G Multiple submitters
- p.Gln472Leu Multiple submitters
- p.Leu478Val Multiple submitters
- p.Thr134= Single submitter
Likely benign 2
- p.Ala484Pro Single submitter
- p.Arg3= Single submitter
Uncertain significance 60
- p.Ala185Val Single submitter ⚠
- p.Ala265Pro Single submitter ⚠
- p.Ala32Asp Single submitter ⚠
- p.Ala453Thr Single submitter ⚠
- p.Arg354Trp Single submitter ⚠
- p.Asn103Asp Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn479Ser Single submitter ⚠
- p.Asn493Thr Single submitter ⚠
- p.Asn503Lys Single submitter ⚠
- p.Asp123Asn Single submitter ⚠
- p.Asp249Gly Single submitter ⚠
- p.Asp281Glu Single submitter ⚠
- p.Asp499Ala Single submitter ⚠
- p.Asp529His Single submitter ⚠
- p.Gln202Glu Single submitter ⚠
- p.Gln384His Single submitter ⚠
- p.Glu126Asp Single submitter ⚠
- p.Glu158Ala Single submitter ⚠
- p.Glu158Gln Single submitter ⚠
- p.Glu160Asp Single submitter ⚠
- p.Glu308Asp Single submitter ⚠
- p.Glu310Ala Single submitter ⚠
- p.Glu469Gly Single submitter ⚠
- p.Glu495Ala Single submitter ⚠
- p.Glu515Gly Single submitter ⚠
- p.Glu516Asp Single submitter ⚠
- p.Glu516Gln Single submitter ⚠
- p.Glu516Val Single submitter ⚠
- p.Gly148Glu Single submitter ⚠
- p.Gly279Val Single submitter ⚠
- p.Gly332Glu Single submitter ⚠
- p.Gly432Arg Single submitter ⚠
- p.Gly460Glu Single submitter ⚠
- p.Gly481Glu Single submitter ⚠
- p.His124Gln Single submitter ⚠
- p.His20Tyr Single submitter ⚠
- p.His492Asn Single submitter ⚠
- p.Ile521Thr Single submitter ⚠
- p.Ile521Val Single submitter ⚠
- p.Lys189Arg Single submitter ⚠
- p.Lys219Asn Single submitter ⚠
- p.Lys334Gln Single submitter ⚠
- p.Lys343Gln Single submitter ⚠
- p.Lys407Thr Single submitter ⚠
- p.Met413Arg Single submitter ⚠
- p.Pro248Thr Single submitter ⚠
- p.Ser116Arg Single submitter ⚠
- p.Ser208Arg Single submitter ⚠
- p.Ser217Gly Single submitter ⚠
- p.Ser434Ala Single submitter ⚠
- p.Ser434Cys Single submitter ⚠
- p.Ser496Thr Single submitter ⚠
- p.Ser507Gly Single submitter ⚠
- p.Ser94Gly Single submitter ⚠
- p.Thr134Ile Single submitter ⚠
- p.Thr140Ala Single submitter ⚠
- p.Thr267Ile Single submitter ⚠
- p.Thr527Ala Single submitter ⚠
- p.Val411Ile Single submitter ⚠