CSPG5 — 88 ClinVar variants
All ClinVar germline CSPG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
1 Benign · 3 Likely benign · 84 Uncertain significance
Full CSPG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSPG5 c.1458+20C>A Uncertain significance Single submitter
- CSPG5 c.1458+26G>T Uncertain significance Single submitter
- CSPG5 c.1458+38C>T Uncertain significance Single submitter
- CSPG5 c.1458+40C>T Uncertain significance Single submitter
- CSPG5 c.1458+46C>T Uncertain significance Single submitter
- CSPG5 c.1458+62A>C Uncertain significance Single submitter
- CSPG5 c.1458+62A>G Uncertain significance Single submitter
- CSPG5 p.Ala113Thr Uncertain significance Single submitter
- CSPG5 p.Ala122Val Uncertain significance Single submitter
- CSPG5 p.Ala125Pro Uncertain significance Single submitter
- CSPG5 p.Ala164Val Uncertain significance Single submitter
- CSPG5 p.Ala223Ser Uncertain significance Single submitter
- CSPG5 p.Ala223Thr Uncertain significance Single submitter
- CSPG5 p.Ala338Thr Uncertain significance Single submitter
- CSPG5 p.Ala39Gly Uncertain significance Single submitter
- CSPG5 p.Ala68Ser Uncertain significance Single submitter
- CSPG5 p.Ala73Glu Uncertain significance Single submitter
- CSPG5 p.Arg360His Uncertain significance Single submitter
- CSPG5 p.Arg360Leu Uncertain significance Single submitter
- CSPG5 p.Arg371Gln Uncertain significance Single submitter
- CSPG5 p.Arg411His Uncertain significance Single submitter
- CSPG5 p.Arg458Cys Uncertain significance Single submitter
- CSPG5 p.Arg464Trp Uncertain significance Single submitter
- CSPG5 p.Arg60Gln Uncertain significance Single submitter
- CSPG5 p.Asn392Asp Uncertain significance Single submitter
- CSPG5 p.Asp159Glu Uncertain significance Single submitter
- CSPG5 p.Asp525Asn Uncertain significance Single submitter
- CSPG5 p.Gln315Arg Uncertain significance Single submitter
- CSPG5 p.Gln402Pro Uncertain significance Single submitter
- CSPG5 p.Glu214Gly Uncertain significance Single submitter
- CSPG5 p.Glu244Asp Uncertain significance Single submitter
- CSPG5 p.Glu44Gly Uncertain significance Single submitter
- CSPG5 p.Gly118Ala Uncertain significance Single submitter
- CSPG5 p.Gly151Val Uncertain significance Single submitter
- CSPG5 p.Gly180Ala Uncertain significance Single submitter
- CSPG5 p.Gly230Glu Uncertain significance Single submitter
- CSPG5 p.Gly344Arg Uncertain significance Single submitter
- CSPG5 p.Gly80Ser Uncertain significance Single submitter
- CSPG5 p.Leu199Val Uncertain significance Single submitter
- CSPG5 p.Leu275Trp Uncertain significance Single submitter
- CSPG5 p.Leu309Pro Uncertain significance Single submitter
- CSPG5 p.Leu309Val Uncertain significance Single submitter
- CSPG5 p.Lys47Glu Uncertain significance Single submitter
- CSPG5 p.Phe19Cys Uncertain significance Single submitter
- CSPG5 p.Pro140Ser Uncertain significance Single submitter
- CSPG5 p.Pro141Arg Uncertain significance Single submitter
- CSPG5 p.Pro153Leu Uncertain significance Single submitter
- CSPG5 p.Pro157Ser Uncertain significance Single submitter
- CSPG5 p.Pro168Leu Uncertain significance Single submitter
- CSPG5 p.Pro201Ser Uncertain significance Single submitter
- CSPG5 p.Pro239Arg Uncertain significance Single submitter
- CSPG5 p.Pro239Thr Uncertain significance Single submitter
- CSPG5 p.Ser205Thr Uncertain significance Single submitter
- CSPG5 p.Ser477Cys Uncertain significance Single submitter
- CSPG5 p.Thr328Ser Uncertain significance Single submitter
- CSPG5 p.Tyr380His Uncertain significance Single submitter
- CSPG5 p.Val432Ile Uncertain significance Single submitter
- CSPG5 p.Val531Ala Uncertain significance Single submitter
- CSPG5 p.Val88Gly Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CSPG5 p.Arg319Trp Uncertain significance Single submitter
- CSPG5 p.Arg342Cys Uncertain significance Single submitter
- CSPG5 p.Arg34Cys Uncertain significance Single submitter
- CSPG5 p.Arg34His Uncertain significance Single submitter
- CSPG5 p.Arg458His Uncertain significance Single submitter
- CSPG5 p.Asp255Asn Uncertain significance Single submitter
- CSPG5 p.Asp293Asn Uncertain significance Single submitter
- CSPG5 p.Glu219Gln Uncertain significance Single submitter
- CSPG5 p.Glu279Asp Uncertain significance Single submitter
- CSPG5 p.Gly10Val Uncertain significance Single submitter
- CSPG5 p.Gly308Asp Uncertain significance Single submitter
- CSPG5 p.Gly312Arg Uncertain significance Single submitter
- CSPG5 p.Gly37Asp Uncertain significance Single submitter
- CSPG5 p.Gly524Cys Uncertain significance Single submitter
- CSPG5 p.Gly5Glu Uncertain significance Single submitter
- CSPG5 p.Gly64Asp Uncertain significance Single submitter
- CSPG5 p.Gly97Arg Uncertain significance Single submitter
- CSPG5 p.Ile511Asn Uncertain significance Single submitter
- CSPG5 p.Phe260Ser Uncertain significance Single submitter
- CSPG5 p.Pro13Gln Uncertain significance Single submitter
- CSPG5 p.Pro14Thr Uncertain significance Single submitter
- CSPG5 p.Pro316Leu Uncertain significance Single submitter
- CSPG5 p.Thr401Met Uncertain significance Single submitter
- CSPG5 p.Thr440Met Uncertain significance Single submitter
- CSPG5 p.Val46Met Uncertain significance Single submitter
All CSPG5 variants
Benign 1
- p.Thr126= Multiple submitters
Uncertain significance 84
- c.1458+20C>A Single submitter ⚠
- c.1458+26G>T Single submitter ⚠
- c.1458+38C>T Single submitter ⚠
- c.1458+40C>T Single submitter ⚠
- c.1458+46C>T Single submitter ⚠
- c.1458+62A>C Single submitter ⚠
- c.1458+62A>G Single submitter ⚠
- p.Ala113Thr Single submitter ⚠
- p.Ala122Val Single submitter ⚠
- p.Ala125Pro Single submitter ⚠
- p.Ala164Val Single submitter ⚠
- p.Ala223Ser Single submitter ⚠
- p.Ala223Thr Single submitter ⚠
- p.Ala338Thr Single submitter ⚠
- p.Ala39Gly Single submitter ⚠
- p.Ala68Ser Single submitter ⚠
- p.Ala73Glu Single submitter ⚠
- p.Arg319Trp Single submitter ⚠
- p.Arg342Cys Single submitter ⚠
- p.Arg34Cys Single submitter ⚠
- p.Arg34His Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg360Leu Single submitter ⚠
- p.Arg371Gln Single submitter ⚠
- p.Arg411His Single submitter ⚠
- p.Arg458Cys Single submitter ⚠
- p.Arg458His Single submitter ⚠
- p.Arg464Trp Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Asn392Asp Single submitter ⚠
- p.Asp159Glu Single submitter ⚠
- p.Asp255Asn Single submitter ⚠
- p.Asp293Asn Single submitter ⚠
- p.Asp525Asn Single submitter ⚠
- p.Gln315Arg Single submitter ⚠
- p.Gln402Pro Single submitter ⚠
- p.Glu214Gly Single submitter ⚠
- p.Glu219Gln Single submitter ⚠
- p.Glu244Asp Single submitter ⚠
- p.Glu279Asp Single submitter ⚠
- p.Glu44Gly Single submitter ⚠
- p.Gly10Val Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly151Val Single submitter ⚠
- p.Gly180Ala Single submitter ⚠
- p.Gly230Glu Single submitter ⚠
- p.Gly308Asp Single submitter ⚠
- p.Gly312Arg Single submitter ⚠
- p.Gly344Arg Single submitter ⚠
- p.Gly37Asp Single submitter ⚠
- p.Gly524Cys Single submitter ⚠
- p.Gly5Glu Single submitter ⚠
- p.Gly64Asp Single submitter ⚠
- p.Gly80Ser Single submitter ⚠
- p.Gly97Arg Single submitter ⚠
- p.Ile511Asn Single submitter ⚠
- p.Leu199Val Single submitter ⚠
- p.Leu275Trp Single submitter ⚠
- p.Leu309Pro Single submitter ⚠
- p.Leu309Val Single submitter ⚠
- p.Lys47Glu Single submitter ⚠
- p.Phe19Cys Single submitter ⚠
- p.Phe260Ser Single submitter ⚠
- p.Pro13Gln Single submitter ⚠
- p.Pro140Ser Single submitter ⚠
- p.Pro141Arg Single submitter ⚠
- p.Pro14Thr Single submitter ⚠
- p.Pro153Leu Single submitter ⚠
- p.Pro157Ser Single submitter ⚠
- p.Pro168Leu Single submitter ⚠
- p.Pro201Ser Single submitter ⚠
- p.Pro239Arg Single submitter ⚠
- p.Pro239Thr Single submitter ⚠
- p.Pro316Leu Single submitter ⚠
- p.Ser205Thr Single submitter ⚠
- p.Ser477Cys Single submitter ⚠
- p.Thr328Ser Single submitter ⚠
- p.Thr401Met Single submitter ⚠
- p.Thr440Met Single submitter ⚠
- p.Tyr380His Single submitter ⚠
- p.Val432Ile Single submitter ⚠
- p.Val46Met Single submitter ⚠
- p.Val531Ala Single submitter ⚠
- p.Val88Gly Single submitter ⚠