Sugi Variant

Sugi Variant/MAK

MAK — 672 ClinVar variants

All ClinVar germline MAK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 240 flagged for review →

48 Pathogenic · 18 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 44 Conflicting · 9 Benign · 8 Benign/Likely benign · 260 Likely benign · 259 Uncertain significance

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

⚑ Evidence disagreements 240

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 22

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

Predictors lean, ClinVar uncertain 190

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 190

Predictors split 27

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

All MAK variants

Pathogenic 48

Pathogenic/Likely pathogenic 18

  • p.Arg272Ter Multiple submitters retinitis pigmentosa
  • p.Arg3Ter Multiple submitters retinitis pigmentosa 62
  • p.Arg432fs Multiple submitters retinitis pigmentosa 62
  • p.Asn567fs Multiple submitters MAK-related disorders
  • p.Gln240fs Multiple submitters MAK-related disorders
  • p.Gln301fs Multiple submitters MAK-related disorders
  • p.Gln351Ter Multiple submitters MAK-related disorders
  • p.Gln362fs Multiple submitters MAK-related disorders
  • p.Gln364fs Multiple submitters retinitis pigmentosa
  • p.Glu408fs Multiple submitters retinitis pigmentosa 62
  • p.Glu454fs Multiple submitters MAK-related disorders
  • p.Gly27Arg Multiple submitters retinitis pigmentosa 62
  • p.Ile250fs Multiple submitters MAK-related disorders
  • p.Leu132fs Multiple submitters retinitis pigmentosa
  • p.Leu316fs Multiple submitters retinitis pigmentosa 62
  • p.Leu57fs Multiple submitters retinitis pigmentosa 62
  • p.Lys456fs Multiple submitters
  • p.Ser188fs Multiple submitters MAK-related disorders

Likely pathogenic 26

Conflicting classifications of pathogenicity 44

Benign 9

Benign/Likely benign 8

Likely benign 260

Uncertain significance 259