Sugi Variant

Sugi Variant/SLC35D1

SLC35D1 — 235 ClinVar variants

All ClinVar germline SLC35D1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

9 Pathogenic · 6 Likely pathogenic · 6 Conflicting · 42 Benign · 1 Benign/Likely benign · 89 Likely benign · 82 Uncertain significance

Full SLC35D1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 2

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

Predictors lean, ClinVar uncertain 62

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

Predictors split 9

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

All SLC35D1 variants

Pathogenic 9

  • p.Thr22fs Single submitter schneckenbecken dysplasia
  • p.Thr284fs Single submitter schneckenbecken dysplasia
  • p.Trp160Ter Single submitter schneckenbecken dysplasia
  • c.392+3A>G No assertion criteria schneckenbecken dysplasia
  • c.533+730_637-1766del No assertion criteria schneckenbecken dysplasia
  • c.636+1G>T No assertion criteria schneckenbecken dysplasia
  • p.Arg107Ter No assertion criteria schneckenbecken dysplasia
  • p.Lys42fs No assertion criteria schneckenbecken dysplasia
  • p.Thr65Pro No assertion criteria schneckenbecken dysplasia

Likely pathogenic 6

  • p.Val166fs Multiple submitters SLC35D1-related disorder
  • c.464+1G>C Single submitter schneckenbecken dysplasia
  • c.876+1G>A Single submitter schneckenbecken dysplasia
  • p.Glu213Ter Single submitter SLC35D1-related disorder
  • p.Trp311Ter Single submitter schneckenbecken dysplasia
  • p.Tyr307Asn Single submitter schneckenbecken dysplasia

Conflicting classifications of pathogenicity 6

Benign 42

Benign/Likely benign 1

  • c.393-5dup Multiple submitters schneckenbecken dysplasia

Likely benign 89

Uncertain significance 82