Sugi Variant

Sugi Variant/NCAPD2

NCAPD2 — 325 ClinVar variants

All ClinVar germline NCAPD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 5 Conflicting · 23 Benign · 52 Likely benign · 234 Uncertain significance

Full NCAPD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 220

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 4

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

Predictors lean, ClinVar uncertain 175

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 175

Predictors split 40

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

All NCAPD2 variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

  • p.Phe837fs Multiple submitters microcephaly 21, primary, autosomal recessive

Likely pathogenic 8

Conflicting classifications of pathogenicity 5

Benign 23

Likely benign 52

Uncertain significance 234