Sugi Variant

Sugi Variant/BIN1

BIN1 — 812 ClinVar variants

All ClinVar germline BIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 278 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 42 Conflicting · 71 Benign · 14 Benign/Likely benign · 313 Likely benign · 363 Uncertain significance

Full BIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 278

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 6

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

Predictors lean, ClinVar uncertain 209

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 209

Predictors split 63

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

All BIN1 variants

Pathogenic 3

  • p.Trp571Ter Single submitter myopathy, centronuclear, 2
  • p.Asp151Asn No assertion criteria myopathy, centronuclear, 2
  • p.Lys35Asn No assertion criteria myopathy, centronuclear, 2

Pathogenic/Likely pathogenic 1

  • p.Arg234Cys Multiple submitters myopathy, centronuclear, 2

Likely pathogenic 5

Conflicting classifications of pathogenicity 42

  • c.1002+2T>C Single submitter myopathy, centronuclear, 2
  • c.1003-11C>G Single submitter myopathy, centronuclear, 2
  • c.1003-13C>T Single submitter myopathy, centronuclear, 2
  • c.1131+9C>T Single submitter myopathy, centronuclear, 2
  • c.1132-6_1132-4dup Single submitter myopathy, centronuclear, 2
  • c.1132-7T>C Single submitter myopathy, centronuclear, 2
  • c.1263+11C>T Single submitter myopathy, centronuclear, 2
  • c.1264-11_1270del Single submitter autosomal dominant nonsyndromic hearing loss 22
  • c.1264-5A>C Single submitter myopathy, centronuclear, 2
  • c.1371+1G>T Single submitter myopathy, centronuclear, 2
  • c.1372-1G>A Single submitter myopathy, centronuclear, 2
  • c.1461+1G>A Single submitter myopathy, centronuclear, 2
  • c.1462-3C>T Single submitter myopathy, centronuclear, 2
  • c.1675-7C>T Single submitter myopathy, centronuclear, 2
  • c.698+15G>A Single submitter myopathy, centronuclear, 2
  • c.698+9C>T Single submitter myopathy, centronuclear, 2
  • c.775-6C>G Single submitter myopathy, centronuclear, 2
  • c.84+15G>T Single submitter
  • c.*1C>T Single submitter myopathy, centronuclear, 2
  • p.Ala543= Single submitter myopathy, centronuclear, 2
  • p.Arg154Gln Single submitter myopathy, centronuclear, 2 ⚠
  • p.Asn264Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp364= Single submitter myopathy, centronuclear, 2
  • p.Glu225= Single submitter myopathy, centronuclear, 2
  • p.Gly269Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly302= Single submitter myopathy, centronuclear, 2
  • p.Gly320Ser Single submitter myopathy, centronuclear, 2 ⚠
  • p.His314= Single submitter myopathy, centronuclear, 2
  • p.Leu227= Single submitter myopathy, centronuclear, 2
  • p.Lys542Arg Single submitter myopathy, centronuclear, 2 ⚠
  • p.Pro308= Single submitter myopathy, centronuclear, 2
  • p.Pro349= Single submitter myopathy, centronuclear, 2
  • p.Pro375Arg Single submitter myopathy, centronuclear, 2 ⚠
  • p.Pro381= Single submitter myopathy, centronuclear, 2
  • p.Pro453= Single submitter myopathy, centronuclear, 2
  • p.Pro491= Single submitter myopathy, centronuclear, 2
  • p.Ser296= Single submitter myopathy, centronuclear, 2
  • p.Thr10= Single submitter myopathy, centronuclear, 2
  • p.Thr128= Single submitter myopathy, centronuclear, 2
  • p.Thr373= Single submitter myopathy, centronuclear, 2
  • p.Thr56= Single submitter myopathy, centronuclear, 2
  • p.Val493= Single submitter myopathy, centronuclear, 2

Benign 71

Benign/Likely benign 14

  • c.1003-15G>A Multiple submitters myopathy, centronuclear, 2
  • c.1003-16C>T Multiple submitters myopathy, centronuclear, 2
  • c.1131+18C>T Multiple submitters myopathy, centronuclear, 2
  • c.316-19G>A Multiple submitters myopathy, centronuclear, 2
  • c.858-12C>A Multiple submitters myopathy, centronuclear, 2
  • c.858-5C>T Multiple submitters myopathy, centronuclear, 2
  • c.*82C>A Multiple submitters myopathy, centronuclear, 2
  • p.Arg514Cys Multiple submitters myopathy, centronuclear, 2
  • p.Asp537= Multiple submitters myopathy, centronuclear, 2
  • p.Gly454= Multiple submitters myopathy, centronuclear, 2
  • p.Pro431Leu Multiple submitters myopathy, centronuclear, 2
  • p.Ser298= Multiple submitters myopathy, centronuclear, 2
  • p.Thr162= Multiple submitters myopathy, centronuclear, 2
  • p.Thr532Met Multiple submitters myopathy, centronuclear, 2

Likely benign 313

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

Uncertain significance 363

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