PAX7 — 119 ClinVar variants
All ClinVar germline PAX7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 8 Benign · 24 Likely benign · 82 Uncertain significance
Full PAX7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAX7 p.Ala235Thr Uncertain significance Multiple submitters
-
PAX7 p.Arg215His
Uncertain significance
Multiple submitters
myopathy, congenital, progressive, with scoliosis
- PAX7 p.Ala341Thr Uncertain significance Single submitter
- PAX7 p.Ala504Ser Uncertain significance Single submitter
- PAX7 p.Arg145Leu Uncertain significance Single submitter
- PAX7 p.Arg198Gln Uncertain significance Single submitter
- PAX7 p.Arg219Cys Uncertain significance Single submitter
- PAX7 p.Arg22Gly Uncertain significance Single submitter
-
PAX7 p.Arg247Cys
Uncertain significance
Single submitter
myopathy, congenital, progressive, with scoliosis
- PAX7 p.Arg37Gln Uncertain significance Single submitter
- PAX7 p.Arg426Gly Uncertain significance Single submitter
- PAX7 p.Arg426Pro Uncertain significance Single submitter
- PAX7 p.Arg49Gln Uncertain significance Single submitter
-
PAX7 p.Arg56Cys
Uncertain significance
Single submitter
myopathy, congenital, progressive, with scoliosis
- PAX7 p.Arg68Trp Uncertain significance Single submitter
- PAX7 p.Arg77Cys Uncertain significance Single submitter
- PAX7 p.Arg77His Uncertain significance Single submitter
- PAX7 p.Arg89Pro Uncertain significance Single submitter
- PAX7 p.Asp179Glu Uncertain significance Single submitter
- PAX7 p.Asp194Tyr Uncertain significance Single submitter
- PAX7 p.Glu115Asp Uncertain significance Single submitter
- PAX7 p.Glu227Lys Uncertain significance Single submitter
-
PAX7 p.Gly102Ser
Uncertain significance
Single submitter
myopathy, congenital, progressive, with scoliosis
- PAX7 p.Gly103Ser Uncertain significance Single submitter
- PAX7 p.Gly165Val Uncertain significance Single submitter
- PAX7 p.Gly296Ser Uncertain significance Single submitter
- PAX7 p.Gly319Ala Uncertain significance Single submitter
- PAX7 p.Gly412Asp Uncertain significance Single submitter
- PAX7 p.Gly412Ser Uncertain significance Single submitter
- PAX7 p.Gly459Ser Uncertain significance Single submitter
- PAX7 p.His142Tyr Uncertain significance Single submitter
- PAX7 p.His65Tyr Uncertain significance Single submitter
-
PAX7 p.Ile133Thr
Uncertain significance
Single submitter
myopathy, congenital, progressive, with scoliosis
- PAX7 p.Ile419Val Uncertain significance Single submitter
- PAX7 p.Ile67Met Uncertain significance Single submitter
- PAX7 p.Ile96Thr Uncertain significance Single submitter
- PAX7 p.Lys117Thr Uncertain significance Single submitter
- PAX7 p.Met375Ile Uncertain significance Single submitter
- PAX7 p.Pro32Leu Uncertain significance Single submitter
- PAX7 p.Pro398Arg Uncertain significance Single submitter
- PAX7 p.Pro398Leu Uncertain significance Single submitter
- PAX7 p.Pro444Ser Uncertain significance Single submitter
- PAX7 p.Ser203Leu Uncertain significance Single submitter
- PAX7 p.Ser207Leu Uncertain significance Single submitter
- PAX7 p.Ser415Leu Uncertain significance Single submitter
- PAX7 p.Thr7Met Uncertain significance Single submitter
- PAX7 p.Val38Phe Uncertain significance Single submitter
- PAX7 p.Val71Ala Uncertain significance Single submitter
- PAX7 p.Val83Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
-
PAX7 p.Pro112Leu
Uncertain significance
Multiple submitters
myopathy, congenital, progressive, with scoliosis
- PAX7 p.Arg145Gln Uncertain significance Single submitter
- PAX7 p.Arg198Leu Uncertain significance Single submitter
- PAX7 p.Arg483Cys Uncertain significance Single submitter
- PAX7 p.Arg483His Uncertain significance Single submitter
- PAX7 p.Asp113Asn Uncertain significance Single submitter
- PAX7 p.Gln108Leu Uncertain significance Single submitter
- PAX7 p.Gln464His Uncertain significance Single submitter
- PAX7 p.Gly451Cys Uncertain significance Single submitter
- PAX7 p.Gly502Val Uncertain significance Single submitter
- PAX7 p.Lys122Arg Uncertain significance Single submitter
- PAX7 p.Phe365Val Uncertain significance Single submitter
- PAX7 p.Pro293Leu Uncertain significance Single submitter
- PAX7 p.Pro298Ala Uncertain significance Single submitter
- PAX7 p.Pro302His Uncertain significance Single submitter
- PAX7 p.Pro331Leu Uncertain significance Single submitter
- PAX7 p.Ser360Ile Uncertain significance Single submitter
- PAX7 p.Tyr303His Uncertain significance Single submitter
- PAX7 p.Tyr442His Uncertain significance Single submitter
- PAX7 p.Tyr460Cys Uncertain significance Single submitter
- PAX7 p.Val114Ile Uncertain significance Single submitter
All PAX7 variants
Pathogenic 3
- c.86-1G>A Single submitter myopathy, congenital, progressive, with scoliosis
- p.Glu248Ter Single submitter myopathy, congenital, progressive, with scoliosis
- p.Arg145Ter No assertion criteria myopathy, congenital, progressive, with scoliosis
Pathogenic/Likely pathogenic 1
- p.Arg74Ter Multiple submitters myopathy, congenital, progressive, with scoliosis
Likely pathogenic 1
- p.Ser95fs Single submitter
Benign 8
Likely benign 24
- c.1155+16C>T Single submitter
- c.1402+23G>A Single submitter
- c.1402+29C>T Single submitter
- c.1402+59C>G Single submitter
- c.1402+66T>C Single submitter
- c.1402+72A>G Single submitter
- c.1402+82A>G Single submitter
- c.1402+98G>T Single submitter
- p.Ala342= Single submitter
- p.Gln217= Single submitter
- p.Gly196= Single submitter
- p.Gly337= Single submitter
- p.Pro112= Single submitter
- p.Pro306= Single submitter
- p.Thr31= Single submitter
- p.Tyr465= Single submitter
- p.Val114= Single submitter
- c.1155+3A>G No assertion criteria PAX7-related disorder
- p.Ala395= No assertion criteria PAX7-related disorder
- p.Ala63= No assertion criteria PAX7-related disorder
- p.Arg97= No assertion criteria PAX7-related disorder
- p.Glu92= No assertion criteria PAX7-related disorder
- p.Gly193= No assertion criteria PAX7-related disorder
- p.Thr299= No assertion criteria PAX7-related disorder
Uncertain significance 82
- c.587-8G>A Multiple submitters congenital myopathy with myasthenic-like onset
- p.Ala235Thr Multiple submitters ⚠
- p.Arg215His Multiple submitters myopathy, congenital, progressive, with scoliosis ⚠
- p.Glu201Gly Multiple submitters hereditary breast ovarian cancer syndrome
- p.Pro112Leu Multiple submitters myopathy, congenital, progressive, with scoliosis ⚠
- c.1402+106T>C Single submitter
- c.1402+122G>A Single submitter
- c.1402+30G>T Single submitter
- c.1402+34C>G Single submitter
- c.1402+34C>T Single submitter
- c.1402+58C>A Single submitter
- c.1402+74G>A Single submitter
- c.1402+91T>G Single submitter myopathy, congenital, progressive, with scoliosis
- p.Ala341Thr Single submitter ⚠
- p.Ala504Ser Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg145Leu Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg198Leu Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg22Gly Single submitter ⚠
- p.Arg247Cys Single submitter myopathy, congenital, progressive, with scoliosis ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg426Gly Single submitter ⚠
- p.Arg426Pro Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg56Cys Single submitter myopathy, congenital, progressive, with scoliosis ⚠
- p.Arg68Trp Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Arg77His Single submitter ⚠
- p.Arg89Pro Single submitter ⚠
- p.Asp113Asn Single submitter ⚠
- p.Asp179Glu Single submitter ⚠
- p.Asp194Tyr Single submitter ⚠
- p.Asp307Gly Single submitter
- p.Gln108Leu Single submitter ⚠
- p.Gln464His Single submitter ⚠
- p.Glu115Asp Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Gly102Ser Single submitter myopathy, congenital, progressive, with scoliosis ⚠
- p.Gly103Ser Single submitter ⚠
- p.Gly165Val Single submitter ⚠
- p.Gly296Ser Single submitter ⚠
- p.Gly319Ala Single submitter ⚠
- p.Gly412Asp Single submitter ⚠
- p.Gly412Ser Single submitter ⚠
- p.Gly451Cys Single submitter ⚠
- p.Gly459Ser Single submitter ⚠
- p.Gly502Val Single submitter ⚠
- p.His142Tyr Single submitter ⚠
- p.His65Tyr Single submitter ⚠
- p.Ile133Thr Single submitter myopathy, congenital, progressive, with scoliosis ⚠
- p.Ile419Val Single submitter ⚠
- p.Ile67Met Single submitter ⚠
- p.Ile96Thr Single submitter ⚠
- p.Lys117Thr Single submitter ⚠
- p.Lys122Arg Single submitter ⚠
- p.Met375Ile Single submitter ⚠
- p.Phe365Val Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro298Ala Single submitter ⚠
- p.Pro302His Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro331Leu Single submitter ⚠
- p.Pro398Arg Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro444Ser Single submitter ⚠
- p.Ser203Leu Single submitter ⚠
- p.Ser207Leu Single submitter ⚠
- p.Ser360Ile Single submitter ⚠
- p.Ser415Leu Single submitter ⚠
- p.Thr481fs Single submitter PAX7-related disorder
- p.Thr7Met Single submitter ⚠
- p.Tyr303His Single submitter ⚠
- p.Tyr442His Single submitter ⚠
- p.Tyr460Cys Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val38Phe Single submitter ⚠
- p.Val71Ala Single submitter ⚠
- p.Val83Ile Single submitter ⚠