Sugi Variant

Sugi Variant/LMNB1

LMNB1 — 330 ClinVar variants

All ClinVar germline LMNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 20 Conflicting · 28 Benign · 14 Benign/Likely benign · 70 Likely benign · 189 Uncertain significance

Full LMNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 159

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 8

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

Predictors lean, ClinVar uncertain 102

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 48

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

All LMNB1 variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

  • p.Arg42Trp Multiple submitters microcephaly 26, primary, autosomal dominant

Likely pathogenic 2

  • p.Arg90Pro Multiple submitters Inborn genetic diseases
  • c.814-1G>T Single submitter microcephaly 26, primary, autosomal dominant

Conflicting classifications of pathogenicity 20

  • c.1161-6A>G Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.359+3G>A Single submitter
  • c.814-3T>C Single submitter
  • c.*284T>G Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.*54A>T Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Ala436Thr Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Arg226Cys Single submitter adult-onset autosomal dominant demyelinating leukodystrophy ⚠
  • p.Arg234Cys Single submitter adult-onset autosomal dominant demyelinating leukodystrophy ⚠
  • p.Arg397His Single submitter adult-onset autosomal dominant demyelinating leukodystrophy ⚠
  • p.Asn358Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys443Tyr Single submitter microcephaly 26, primary, autosomal dominant ⚠
  • p.Glu559_Ala560insGlu Single submitter
  • p.Glu69Gly Single submitter Inborn genetic diseases ⚠
  • p.Gly161Ala Single submitter Inborn genetic diseases ⚠
  • p.Met211Ile Single submitter Inborn genetic diseases ⚠
  • p.Pro6Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser393Asn Single submitter adult-onset autosomal dominant demyelinating leukodystrophy ⚠
  • p.Ser52Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr285Ala Single submitter adult-onset autosomal dominant demyelinating leukodystrophy ⚠
  • p.Thr511Pro Single submitter Inborn genetic diseases

Benign 28

  • c.*18C>T Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • c.*43T>C Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Ala501Val Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy ⚠
  • p.Leu93= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Ser144= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Ser284= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Ser520= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Tyr138= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • c.1161-51G>A Single submitter
  • c.1161-57del Single submitter
  • c.1161-64T>G Single submitter
  • c.1492-51G>A Single submitter
  • c.1611+163T>G Single submitter
  • c.1612-236G>C Single submitter
  • c.1719+72del Single submitter
  • c.360-118A>G Single submitter
  • c.643-101A>G Single submitter
  • c.813+187A>G Single submitter
  • c.-298G>T Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.-314C>T Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.*15T>C Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.*239C>T Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.*503A>T Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.*518T>C Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • c.*691A>G Single submitter adult-onset autosomal dominant demyelinating leukodystrophy
  • n.304G>C Single submitter
  • p.Ala500Ser Single submitter
  • p.Gln31= Single submitter

Benign/Likely benign 14

  • c.1387-18C>G Multiple submitters
  • c.1492-11G>T Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • c.360-19C>T Multiple submitters microcephaly 26, primary, autosomal dominant
  • c.516+5G>A Multiple submitters
  • c.642+10T>C Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • c.642+4_642+7dup Multiple submitters
  • p.Arg10Leu Multiple submitters
  • p.Asn502= Multiple submitters
  • p.Asp341= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Asp41= Multiple submitters
  • p.Ile47= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Thr20= Multiple submitters adult-onset autosomal dominant demyelinating leukodystrophy
  • p.Thr399= Multiple submitters
  • p.Thr96= Multiple submitters

Likely benign 70

Uncertain significance 189