Sugi Variant

Sugi Variant/SPTBN4

SPTBN4 — 724 ClinVar variants

All ClinVar germline SPTBN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 434 flagged for review →

15 Pathogenic · 17 Likely pathogenic · 14 Conflicting · 49 Benign · 8 Benign/Likely benign · 174 Likely benign · 447 Uncertain significance

Full SPTBN4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 434

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 309

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 309

Predictors split 114

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

All SPTBN4 variants

Pathogenic 15

  • c.6320_6336+10del Single submitter
  • p.Arg2006Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Asn384fs Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Asp1126fs Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Gln1197Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Gln1277fs Single submitter Inborn genetic diseases
  • p.Gln1697fs Single submitter
  • p.Gln1725Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Gln605Ter Single submitter Inborn genetic diseases
  • p.Glu1274Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Leu417fs Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Leu691fs Single submitter Inborn genetic diseases
  • p.Trp1188Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Trp755Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Gln533Ter No assertion criteria neurodevelopmental disorder with hypotonia, neuropathy, and deafness

Likely pathogenic 17

  • c.2903+2T>C Multiple submitters neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • c.3948+1G>A Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Ala1068fs Single submitter
  • p.Ala2485fs Single submitter Inborn genetic diseases
  • p.Ala633fs Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Arg246Pro Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Arg636Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Asp781delinsAlaProValArgArgTer Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Gln1654Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Gln2257Ter Single submitter SPTBN4-related disorder
  • p.Gln364Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Glu2276Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Gly846fs Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Phe2093fs Single submitter
  • p.Tyr793Ter Single submitter neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • c.4584+1G>T No assertion criteria neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • p.Leu599fs No assertion criteria neurodevelopmental disorder with hypotonia, neuropathy, and deafness

Conflicting classifications of pathogenicity 14

Benign 49

Benign/Likely benign 8

Likely benign 174

Uncertain significance 447

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