Sugi Variant

Sugi Variant/CARMIL2

CARMIL2 — 1242 ClinVar variants

All ClinVar germline CARMIL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 455 flagged for review →

51 Pathogenic · 5 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 18 Conflicting · 30 Benign · 22 Benign/Likely benign · 599 Likely benign · 489 Uncertain significance

Full CARMIL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 455

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 11

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

Predictors lean, ClinVar uncertain 373

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 373

Predictors split 71

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

All CARMIL2 variants

Pathogenic 51

Pathogenic/Likely pathogenic 5

  • p.Arg174Ter Multiple submitters severe combined immunodeficiency due to CARMIL2 deficiency
  • p.Asn530Lys Multiple submitters combined immunodeficiency
  • p.Gln1379Ter Multiple submitters severe combined immunodeficiency due to CARMIL2 deficiency
  • p.Leu295fs Multiple submitters
  • p.Pro451fs Multiple submitters CARMIL2-related disorder

Likely pathogenic 28

Conflicting classifications of pathogenicity 18

Benign 30

Benign/Likely benign 22

Likely benign 599

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

Uncertain significance 489

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