Sugi Variant

Sugi Variant/MYMK

MYMK — 84 ClinVar variants

All ClinVar germline MYMK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 14 Benign · 3 Benign/Likely benign · 11 Likely benign · 47 Uncertain significance

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

⚑ Evidence disagreements 43

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 lean, ClinVar uncertain 32

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

Predictors split 10

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

All MYMK variants

Pathogenic 4

  • p.Gln153Ter Single submitter Carey-Fineman-Ziter syndrome 1
  • p.Cys185Arg No assertion criteria Carey-Fineman-Ziter syndrome ⚠
  • p.Ile154Thr No assertion criteria Carey-Fineman-Ziter syndrome ⚠
  • p.Met1Lys No assertion criteria Carey-Fineman-Ziter syndrome

Pathogenic/Likely pathogenic 2

  • p.Gly100Ser Multiple submitters Carey-Fineman-Ziter syndrome
  • p.Pro91Thr Multiple submitters TMEM8C-related disorders

Likely pathogenic 3

Benign 14

Benign/Likely benign 3

Likely benign 11

Uncertain significance 47