Sugi Variant

Sugi Variant/MERTK

MERTK — 812 ClinVar variants

All ClinVar germline MERTK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 378 flagged for review →

70 Pathogenic · 10 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 40 Conflicting · 23 Benign · 7 Benign/Likely benign · 224 Likely benign · 404 Uncertain significance

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

⚑ Evidence disagreements 378

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 14

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

Predictors lean, ClinVar uncertain 236

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 236

Predictors split 128

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

All MERTK variants

Pathogenic 70

Pathogenic/Likely pathogenic 10

  • c.1296+1G>A Multiple submitters retinitis pigmentosa
  • c.1787-2A>T Multiple submitters
  • p.Ala768Thr Multiple submitters retinitis pigmentosa
  • p.Arg558Ter Multiple submitters inherited retinal dystrophy
  • p.Arg722Ter Multiple submitters inherited retinal dystrophy
  • p.Arg727Gln Multiple submitters inherited retinal dystrophy
  • p.Cys115Trp Multiple submitters retinitis pigmentosa 38
  • p.Gln241Ter Multiple submitters retinitis pigmentosa 38
  • p.Glu434fs Multiple submitters retinitis pigmentosa 38
  • p.Leu683fs Multiple submitters inherited retinal dystrophy

Likely pathogenic 34

Conflicting classifications of pathogenicity 40

Benign 23

Benign/Likely benign 7

  • p.Ala282Thr Multiple submitters retinitis pigmentosa
  • p.Ala951Thr Multiple submitters retinitis pigmentosa 38
  • p.Asn498Ser Multiple submitters retinitis pigmentosa 38
  • p.Gln451= Multiple submitters retinitis pigmentosa
  • p.Leu34= Multiple submitters retinitis pigmentosa
  • p.Pro252= Multiple submitters inherited retinal dystrophy
  • p.Val464Ile Multiple submitters Inborn genetic diseases

Likely benign 224

Uncertain significance 404

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