Sugi Variant

Sugi Variant/TMEM94

TMEM94 — 336 ClinVar variants

All ClinVar germline TMEM94 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 192 flagged for review →

10 Pathogenic · 4 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 1 Conflicting · 5 Benign · 1 Benign/Likely benign · 87 Likely benign · 216 Uncertain significance

Full TMEM94 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 192

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 lean, ClinVar uncertain 148

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

Predictors split 44

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

All TMEM94 variants

Pathogenic 10

  • p.Arg739Ter Multiple submitters intellectual developmental disorder with cardiac defects and dysmorphic facies
  • c.765-1G>C Single submitter TMEM94-related disorder
  • p.Gln534Ter Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.His1145fs Single submitter Inborn genetic diseases
  • p.His166fs Single submitter
  • p.Met869fs Single submitter TMEM94-related disorder
  • p.Trp1259Ter Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • c.2729-2A>G No assertion criteria intellectual developmental disorder with cardiac defects and dysmorphic facies
  • c.3998+5G>A No assertion criteria intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Ile203fs No assertion criteria intellectual developmental disorder with cardiac defects and dysmorphic facies

Pathogenic/Likely pathogenic 4

  • p.Arg264Ter Multiple submitters Inborn genetic diseases
  • p.Arg912Ter Multiple submitters intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Gln419fs Multiple submitters Rare syndromic intellectual disability
  • p.Gln484Ter Multiple submitters intellectual developmental disorder with cardiac defects and dysmorphic facies

Likely pathogenic 12

  • c.273-1G>C Single submitter
  • c.2845-1G>A Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Asp270fs Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Gln761fs Single submitter TMEM94-related disorder
  • p.Glu229fs Single submitter congenital nervous system disorder
  • p.Glu498fs Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Pro12fs Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Ser829fs Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Thr393fs Single submitter intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Thr667fs Single submitter
  • c.955-2A>G No assertion criteria TMEM94-related disorder
  • p.Lys732Ter No assertion criteria intellectual developmental disorder with cardiac defects and dysmorphic facies

Conflicting classifications of pathogenicity 1

Benign 5

  • c.2087-5C>G Multiple submitters intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Asn482Ser Multiple submitters
  • p.Ile612= Multiple submitters intellectual developmental disorder with cardiac defects and dysmorphic facies
  • p.Asp1304= Single submitter
  • p.Gly85Arg Single submitter Inborn genetic diseases

Benign/Likely benign 1

Likely benign 87

Uncertain significance 216