Sugi Variant

Sugi Variant/INSR

INSR — 836 ClinVar variants

All ClinVar germline INSR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 273 flagged for review →

42 Pathogenic · 1 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 68 Conflicting · 147 Benign · 28 Benign/Likely benign · 168 Likely benign · 352 Uncertain significance

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

⚑ Evidence disagreements 273

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 31

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

Predictors lean, ClinVar uncertain 185

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 185

Predictors split 56

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

All INSR variants

Pathogenic 42

Pathogenic/Likely pathogenic 1

  • p.His236Arg Multiple submitters INSR-related disorder

Likely pathogenic 30

Conflicting classifications of pathogenicity 68

Benign 147

Benign/Likely benign 28

  • c.1123+13G>T Multiple submitters insulin-resistance syndrome type A
  • c.1862-20A>G Multiple submitters
  • c.2682+9C>G Multiple submitters hyperinsulinism due to INSR deficiency
  • c.2683-5C>T Multiple submitters Donohue syndrome
  • c.2946-14T>C Multiple submitters Rabson-Mendenhall syndrome
  • c.3370-15G>A Multiple submitters Rabson-Mendenhall syndrome
  • c.653-23TC[20] Multiple submitters Inborn genetic diseases
  • c.653-23TC[8] Multiple submitters
  • c.653-7del Multiple submitters Donohue syndrome
  • c.653-9_653-7delinsC Multiple submitters hyperinsulinism due to INSR deficiency
  • c.653-9del Multiple submitters
  • p.Ala663= Multiple submitters hyperinsulinism due to INSR deficiency
  • p.Ala906= Multiple submitters hyperinsulinism due to INSR deficiency
  • p.Asp261= Multiple submitters Rabson-Mendenhall syndrome
  • p.Cys360= Multiple submitters hyperinsulinism due to INSR deficiency
  • p.Cys899= Multiple submitters
  • p.His290= Multiple submitters insulin-resistance syndrome type A
  • p.Ile1046= Multiple submitters
  • p.Ile881= Multiple submitters hyperinsulinism due to INSR deficiency
  • p.Leu88= Multiple submitters insulin-resistance syndrome type A
  • p.Leu991Ile Multiple submitters monogenic diabetes
  • p.Lys501= Multiple submitters
  • p.Phe669= Multiple submitters Rabson-Mendenhall syndrome
  • p.Ser296= Multiple submitters
  • p.Ser366= Multiple submitters insulin-resistance syndrome type A
  • p.Thr229= Multiple submitters hyperinsulinism due to INSR deficiency
  • p.Thr731= Multiple submitters hyperinsulinism due to INSR deficiency
  • p.Val206= Multiple submitters hyperinsulinism due to INSR deficiency

Likely benign 168

Uncertain significance 352

Showing the top 300 by review status; the full set is in the sitemap.