PPARG — 260 ClinVar variants

All ClinVar germline PPARG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

16 Pathogenic · 4 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 10 Conflicting · 12 Benign · 7 Benign/Likely benign · 71 Likely benign · 119 Uncertain significance

Full PPARG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 79

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All PPARG variants

Pathogenic 16

  • p.Pro424fs Multiple submitters PPARG-related disorder
  • c.1181-2A>T Single submitter type 2 diabetes mellitus
  • c.221-1G>C Single submitter PPARG-related familial partial lipodystrophy
  • c.530-1G>A Single submitter PPARG-related familial partial lipodystrophy
  • p.Asp308fs Single submitter PPARG-related familial partial lipodystrophy
  • p.Glu416Ter Single submitter
  • p.Tyr86Ter Single submitter PPARG-related familial partial lipodystrophy
  • p.Arg164Trp No assertion criteria PPARG-related familial partial lipodystrophy
  • p.Cys160Ser No assertion criteria PPARG-related familial partial lipodystrophy
  • p.Gln284Pro No assertion criteria colon carcinoma
  • p.Leu148Pro No assertion criteria PPARG-related familial partial lipodystrophy
  • p.Lys155fs No assertion criteria DIABETES MELLITUS, TYPE II, DIGENIC
  • p.Lys317Ter No assertion criteria colon carcinoma
  • p.Phe358Leu No assertion criteria PPARG-related familial partial lipodystrophy ⚠
  • p.Ser156fs No assertion criteria colon carcinoma
  • p.Val288Met No assertion criteria PPARG-related familial partial lipodystrophy ⚠

Pathogenic/Likely pathogenic 4

  • p.Arg395Cys Multiple submitters PPARG-related familial partial lipodystrophy
  • p.Arg395His Multiple submitters type 2 diabetes mellitus
  • p.Pro465Leu Multiple submitters PPARG-related familial partial lipodystrophy
  • p.Tyr121Cys Multiple submitters PPARG-related familial partial lipodystrophy

Likely pathogenic 21

  • p.Arg164Gln Multiple submitters PPARG-related familial partial lipodystrophy
  • c.390+1G>A Single submitter
  • c.730-2A>G Single submitter PPARG-related disorder
  • c.-8-28082del Single submitter PPARG-related disorder
  • p.Ala116fs Single submitter PPARG-related familial partial lipodystrophy
  • p.Ala276fs Single submitter PPARG-related disorder
  • p.Arg182Gln Single submitter PPARG-related familial partial lipodystrophy
  • p.Arg210Pro Single submitter PPARG-related familial partial lipodystrophy
  • p.Arg355Ter Single submitter
  • p.Gln281Ter Single submitter PPARG-related familial partial lipodystrophy
  • p.Gln435Ter Single submitter PPARG-related disorder
  • p.Glu127Ala Single submitter type 2 diabetes mellitus
  • p.Glu127Gly Single submitter PPARG-related familial partial lipodystrophy
  • p.Glu205fs Single submitter PPARG-related familial partial lipodystrophy
  • p.Glu322fs Single submitter PPARG-related disorder
  • p.Gly118Glu Single submitter PPARG-related familial partial lipodystrophy
  • p.Ile294Thr Single submitter PPARG-related familial partial lipodystrophy ⚠
  • p.Leu307Pro Single submitter
  • p.Leu375Pro Single submitter PPARG-related familial partial lipodystrophy
  • p.Leu421Pro Single submitter PPARG-related familial partial lipodystrophy
  • p.Ser17fs Single submitter obesity disorder

Conflicting classifications of pathogenicity 10

  • c.391-3C>T Single submitter INSULIN RESISTANCE, DIGENIC
  • p.Ala116= Single submitter INSULIN RESISTANCE, DIGENIC
  • p.Arg210Gln Single submitter obesity disorder
  • p.Asp50= Single submitter PPARG-related familial partial lipodystrophy
  • p.Gln408= Single submitter obesity disorder
  • p.Glu49Lys Single submitter INSULIN RESISTANCE, DIGENIC ⚠
  • p.Gly131= Single submitter Inborn genetic diseases
  • p.Leu139= Single submitter INSULIN RESISTANCE, DIGENIC
  • p.Val305Leu Single submitter monogenic diabetes ⚠
  • p.Leu92Pro No assertion criteria PPARG-related disorder ⚠

Benign 12

Benign/Likely benign 7

Likely benign 71

Uncertain significance 119