Sugi Variant

Sugi Variant/SZT2

SZT2 — 3474 ClinVar variants

All ClinVar germline SZT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 955 flagged for review →

116 Pathogenic · 17 Pathogenic/Likely pathogenic · 59 Likely pathogenic · 92 Conflicting · 49 Benign · 58 Benign/Likely benign · 1412 Likely benign · 1671 Uncertain significance

Full SZT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 955

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 3

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

Predictors agree, ClinVar conflicts 47

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

Predictors lean, ClinVar uncertain 800

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 800

Predictors split 105

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

All SZT2 variants

Pathogenic 116

Pathogenic/Likely pathogenic 17

  • p.Arg1214Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg1381Ter Multiple submitters
  • p.Arg1466Ter Multiple submitters SZT2-related disorder
  • p.Arg1958Ter Multiple submitters Inborn genetic diseases
  • p.Arg1969Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg2047Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg2326Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg2419Ter Multiple submitters
  • p.Arg2887Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg28Ter Multiple submitters SZT2-related disorder
  • p.Arg3014Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg3259Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg826Ter Multiple submitters
  • p.Asp2497fs Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ser788Ter Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Tyr187fs Multiple submitters SZT2-related disorder
  • p.Val2041del Multiple submitters developmental and epileptic encephalopathy, 18

Likely pathogenic 59

Conflicting classifications of pathogenicity 92

Benign 49

Benign/Likely benign 58

  • c.1262-14C>T Multiple submitters developmental and epileptic encephalopathy, 18
  • c.2929+9G>A Multiple submitters developmental and epileptic encephalopathy, 18
  • c.3309+9C>T Multiple submitters
  • c.4309-5A>C Multiple submitters
  • c.5025-17A>G Multiple submitters developmental and epileptic encephalopathy, 18
  • c.5275-14C>T Multiple submitters
  • c.5905-13C>G Multiple submitters developmental and epileptic encephalopathy, 18
  • c.6034+11A>C Multiple submitters developmental and epileptic encephalopathy, 18
  • c.6508+16G>T Multiple submitters developmental and epileptic encephalopathy, 18
  • c.6508+19del Multiple submitters
  • c.6792+15A>C Multiple submitters
  • c.7211-13C>G Multiple submitters developmental and epileptic encephalopathy, 18
  • c.7344+9A>G Multiple submitters
  • c.7512-3C>T Multiple submitters developmental and epileptic encephalopathy, 18
  • c.7874-16C>G Multiple submitters developmental and epileptic encephalopathy, 18
  • c.7975-10C>T Multiple submitters developmental and epileptic encephalopathy, 18
  • c.8151+11C>T Multiple submitters developmental and epileptic encephalopathy, 18
  • c.8151+9T>G Multiple submitters
  • c.8499+8A>C Multiple submitters developmental and epileptic encephalopathy, 18
  • c.8626-3T>C Multiple submitters developmental and epileptic encephalopathy, 18
  • c.9440+12del Multiple submitters developmental and epileptic encephalopathy, 18
  • c.9441-12C>T Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ala2604= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ala2773= Multiple submitters Inborn genetic diseases
  • p.Ala3241= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Arg1065Gln Multiple submitters
  • p.Arg2419Gln Multiple submitters Inborn genetic diseases
  • p.Asp1661= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Asp2191= Multiple submitters Inborn genetic diseases
  • p.Cys985= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Glu2452= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Gly2570Arg Multiple submitters Inborn genetic diseases
  • p.Ile116= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ile2465= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ile260= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Leu1567= Multiple submitters Inborn genetic diseases
  • p.Leu2181= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Leu2611= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Leu2674= Multiple submitters Inborn genetic diseases
  • p.Leu3098= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Leu3295= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Lys225= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Pro1157Ser Multiple submitters Inborn genetic diseases
  • p.Pro2901Leu Multiple submitters Inborn genetic diseases
  • p.Pro446Ser Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ser1194= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ser1845Arg Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ser2415= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Ser253= Multiple submitters Inborn genetic diseases
  • p.Ser2970= Multiple submitters Inborn genetic diseases
  • p.Ser528= Multiple submitters Inborn genetic diseases
  • p.Thr1392= Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Thr1692Ile Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Thr877= Multiple submitters Inborn genetic diseases
  • p.Val1089= Multiple submitters Inborn genetic diseases
  • p.Val1511Ile Multiple submitters Inborn genetic diseases
  • p.Val2521Ala Multiple submitters developmental and epileptic encephalopathy, 18
  • p.Val2525Ile Multiple submitters Inborn genetic diseases

Likely benign 1412

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

Uncertain significance 1671

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