Sugi Variant

Sugi Variant/SHANK3

SHANK3 — 1243 ClinVar variants

All ClinVar germline SHANK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →

125 Pathogenic · 9 Pathogenic/Likely pathogenic · 74 Likely pathogenic · 26 Conflicting · 72 Benign · 49 Benign/Likely benign · 278 Likely benign · 610 Uncertain significance

Full SHANK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

All SHANK3 variants

Pathogenic 125

Pathogenic/Likely pathogenic 9

Likely pathogenic 74

Conflicting classifications of pathogenicity 26

Benign 72

Benign/Likely benign 49

Likely benign 278

Uncertain significance 610

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