Sugi Variant

Sugi Variant/SLC4A1

SLC4A1 — 1024 ClinVar variants

All ClinVar germline SLC4A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 418 flagged for review →

79 Pathogenic · 35 Pathogenic/Likely pathogenic · 113 Likely pathogenic · 86 Conflicting · 42 Benign · 32 Benign/Likely benign · 169 Likely benign · 468 Uncertain significance

Full SLC4A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 418

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 42

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

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 282

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 282

Predictors split 89

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

All SLC4A1 variants

Pathogenic 79

Pathogenic/Likely pathogenic 35

Likely pathogenic 113

Conflicting classifications of pathogenicity 86

Benign 42

Benign/Likely benign 32

  • c.16-14G>A Multiple submitters hereditary spherocytosis type 4
  • c.1800+12C>T Multiple submitters hereditary spherocytosis type 4
  • c.2482-7C>T Multiple submitters southeast Asian ovalocytosis
  • c.486-18C>T Multiple submitters southeast Asian ovalocytosis
  • c.-135G>A Multiple submitters hereditary spherocytosis type 4
  • c.-60G>A Multiple submitters hereditary spherocytosis type 4
  • c.*408C>T Multiple submitters hereditary spherocytosis type 4
  • p.Ala234= Multiple submitters
  • p.Arg295His Multiple submitters hereditary spherocytosis type 4
  • p.Arg518= Multiple submitters
  • p.Asp626= Multiple submitters hereditary spherocytosis type 4
  • p.Gln564= Multiple submitters
  • p.Glu72Asp Multiple submitters hereditary spherocytosis type 4
  • p.His651= Multiple submitters hereditary spherocytosis type 4
  • p.Leu4= Multiple submitters cryohydrocytosis
  • p.Leu417= Multiple submitters hereditary spherocytosis type 4
  • p.Leu780= Multiple submitters hereditary spherocytosis type 4
  • p.Leu99= Multiple submitters cryohydrocytosis
  • p.Lys56Glu Multiple submitters hereditary spherocytosis type 4
  • p.Lys590= Multiple submitters hereditary spherocytosis type 4
  • p.Met31Thr Multiple submitters autosomal dominant distal renal tubular acidosis
  • p.Phe266= Multiple submitters hemolytic anemia
  • p.Pro854Leu Multiple submitters hereditary spherocytosis type 4
  • p.Ser438= Multiple submitters hereditary spherocytosis type 4
  • p.Ser700= Multiple submitters hereditary spherocytosis type 4
  • p.Tyr904= Multiple submitters hereditary spherocytosis type 4
  • c.-30C>T Single submitter hereditary spherocytosis type 4
  • c.*1227A>C Single submitter hereditary spherocytosis type 4
  • c.*1237C>T Single submitter hereditary spherocytosis type 4
  • c.*1792G>A Single submitter hereditary spherocytosis type 4
  • c.*1933G>A Single submitter hereditary spherocytosis type 4
  • c.*947C>G Single submitter hereditary spherocytosis type 4

Likely benign 169

Uncertain significance 468

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