Sugi Variant

Sugi Variant/TRPM6

TRPM6 — 963 ClinVar variants

All ClinVar germline TRPM6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 409 flagged for review →

34 Pathogenic · 3 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 41 Conflicting · 87 Benign · 18 Benign/Likely benign · 238 Likely benign · 506 Uncertain significance

Full TRPM6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 409

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 348

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 348

Predictors split 44

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

All TRPM6 variants

Pathogenic 34

Pathogenic/Likely pathogenic 3

  • p.Arg340Ter Multiple submitters TRPM6-related disorder
  • p.Arg56Ter Multiple submitters intestinal hypomagnesemia 1
  • p.Cys1429Ter Multiple submitters intestinal hypomagnesemia 1

Likely pathogenic 36

Conflicting classifications of pathogenicity 41

Benign 87

Benign/Likely benign 18

  • c.3095-17A>T Multiple submitters intestinal hypomagnesemia 1
  • c.5201-18C>T Multiple submitters
  • c.669+15C>T Multiple submitters
  • p.Ala1569= Multiple submitters intestinal hypomagnesemia 1
  • p.Ala883= Multiple submitters intestinal hypomagnesemia 1
  • p.Ala937= Multiple submitters intestinal hypomagnesemia 1
  • p.Gln1663Arg Multiple submitters intestinal hypomagnesemia 1
  • p.Gln1850= Multiple submitters intestinal hypomagnesemia 1
  • p.Glu130= Multiple submitters intestinal hypomagnesemia 1
  • p.Gly171Arg Multiple submitters intestinal hypomagnesemia 1
  • p.Gly211= Multiple submitters intestinal hypomagnesemia 1
  • p.Leu617= Multiple submitters intestinal hypomagnesemia 1
  • p.Leu810= Multiple submitters intestinal hypomagnesemia 1
  • p.Met1162Ile Multiple submitters intestinal hypomagnesemia 1
  • p.Met338Ile Multiple submitters intestinal hypomagnesemia 1
  • p.Pro1808= Multiple submitters intestinal hypomagnesemia 1
  • p.Ser90Cys Multiple submitters intestinal hypomagnesemia 1
  • p.Thr1523= Multiple submitters intestinal hypomagnesemia 1

Likely benign 238

Uncertain significance 506

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