Sugi Variant

Sugi Variant/TRPV6

TRPV6 — 407 ClinVar variants

All ClinVar germline TRPV6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 4 Conflicting · 26 Benign · 12 Benign/Likely benign · 118 Likely benign · 224 Uncertain significance

Full TRPV6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 205

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 3

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

Predictors lean, ClinVar uncertain 162

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 162

Predictors split 40

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

All TRPV6 variants

Pathogenic 12

Pathogenic/Likely pathogenic 2

Likely pathogenic 9

  • c.2016-2A>C Single submitter TRPV6-related disorder
  • c.347-1G>A Single submitter
  • p.Arg425Gln Single submitter hyperparathyroidism, transient neonatal ⚠
  • p.Arg483Trp Single submitter hyperparathyroidism, transient neonatal ⚠
  • p.Cys212Tyr Single submitter hyperparathyroidism, transient neonatal
  • p.Gln553Ter Single submitter hyperparathyroidism, transient neonatal
  • p.Lys524Ter Single submitter hyperparathyroidism, transient neonatal
  • p.Trp85Ter Single submitter hyperparathyroidism, transient neonatal
  • p.Val239fs Single submitter hyperparathyroidism, transient neonatal

Conflicting classifications of pathogenicity 4

Benign 26

Benign/Likely benign 12

Likely benign 118

Uncertain significance 224