Sugi Variant

Sugi Variant/EXTL3

EXTL3 — 581 ClinVar variants

All ClinVar germline EXTL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →

1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 6 Conflicting · 4 Benign · 13 Benign/Likely benign · 275 Likely benign · 281 Uncertain significance

Full EXTL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 257

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 4

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

Predictors lean, ClinVar uncertain 169

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 169

Predictors split 84

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

All EXTL3 variants

Pathogenic/Likely pathogenic 1

  • p.Pro318Leu Multiple submitters immunoskeletal dysplasia with neurodevelopmental abnormalities ⚠

Likely pathogenic 1

  • p.Arg158Ter Single submitter immunoskeletal dysplasia with neurodevelopmental abnormalities

Conflicting classifications of pathogenicity 6

Benign 4

Benign/Likely benign 13

Likely benign 275

Uncertain significance 281