Sugi Variant

Sugi Variant/MAPK8IP3

MAPK8IP3 — 616 ClinVar variants

All ClinVar germline MAPK8IP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 346 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 12 Conflicting · 21 Benign · 2 Benign/Likely benign · 182 Likely benign · 377 Uncertain significance

Full MAPK8IP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 346

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 10

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

Predictors lean, ClinVar uncertain 261

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 261

Predictors split 75

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

All MAPK8IP3 variants

Pathogenic 4

  • p.Glu455Ter Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Leu1112fs Single submitter
  • p.Leu739fs Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Trp973Ter Single submitter Inborn genetic diseases

Pathogenic/Likely pathogenic 3

  • p.Arg1147Cys Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Arg579Cys Multiple submitters Inborn genetic diseases
  • p.Gln468Ter Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA

Likely pathogenic 15

  • p.Glu27Ter Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Glu462Gly Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Gly22fs Multiple submitters Inborn genetic diseases
  • p.Leu445Pro Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Tyr37Ter Multiple submitters MAPK8IP3-related disorder
  • c.2121+1dup Single submitter
  • c.2630-2_2630-1del Single submitter
  • c.3238-1G>A Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.748-2A>C Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Arg1187Ter Single submitter
  • p.Arg149fs Single submitter
  • p.Met56Lys Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Pro1086Leu Single submitter
  • p.Val714fs Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.2122-1G>A No assertion criteria neurodevelopmental disorder with or without variable brain abnormalities; NEDBA

Conflicting classifications of pathogenicity 12

  • p.Arg1147His Single submitter neurodevelopmental disorder ⚠
  • p.Arg1200Cys Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA ⚠
  • p.Arg460Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg526Gln Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA ⚠
  • p.Arg579His Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Asp633Glu Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA ⚠
  • p.Cys741Arg Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA ⚠
  • p.Glu1274Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu1304Asp Single submitter ⚠
  • p.Gly401Arg Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA ⚠
  • p.His233Tyr Single submitter neurodevelopmental disorder with or without variable brain abnormalities; NEDBA ⚠
  • p.Tyr594Asn Single submitter Inborn genetic diseases ⚠

Benign 21

  • c.2447-15C>T Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.3020+10C>A Multiple submitters
  • c.3409+18A>G Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.3409+32T>G Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.3523+16A>C Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.3562+44C>T Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.3562+45T>C Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • c.3893-24G>C Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Ala711= Multiple submitters
  • p.Asp737= Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Gly1256= Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Ser621= Multiple submitters
  • p.Thr754Ala Multiple submitters neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
  • p.Val1153= Multiple submitters
  • c.3524-38C>T Single submitter
  • p.Ser985= Single submitter
  • p.Thr525= Single submitter
  • p.Ser256= No assertion criteria MAPK8IP3-related disorder
  • p.Ser818= No assertion criteria MAPK8IP3-related disorder
  • p.Tyr129= No assertion criteria MAPK8IP3-related disorder
  • p.Val13= No assertion criteria MAPK8IP3-related disorder

Benign/Likely benign 2

Likely benign 182

Uncertain significance 377

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