Sugi Variant

Sugi Variant/SLC52A1

SLC52A1 — 278 ClinVar variants

All ClinVar germline SLC52A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

6 Conflicting · 15 Benign · 3 Benign/Likely benign · 78 Likely benign · 176 Uncertain significance

Full SLC52A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 144

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 113

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

Predictors split 28

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

All SLC52A1 variants

Conflicting classifications of pathogenicity 6

Benign 15

Benign/Likely benign 3

Likely benign 78

  • p.Asp441His Multiple submitters Vitamin B2 deficiency
  • p.His138= Multiple submitters Vitamin B2 deficiency
  • p.Leu136= Multiple submitters Vitamin B2 deficiency
  • p.Pro406= Multiple submitters Vitamin B2 deficiency
  • p.Pro429= Multiple submitters Vitamin B2 deficiency
  • c.1010+20C>G Single submitter Vitamin B2 deficiency
  • c.1010+7A>G Single submitter Vitamin B2 deficiency
  • c.1134+11G>C Single submitter Vitamin B2 deficiency
  • c.1134+9G>A Single submitter Vitamin B2 deficiency
  • c.1135-10T>A Single submitter Vitamin B2 deficiency
  • c.130+15G>A Single submitter Vitamin B2 deficiency
  • c.131-18A>G Single submitter Vitamin B2 deficiency
  • p.Ala106= Single submitter Vitamin B2 deficiency
  • p.Ala175= Single submitter Vitamin B2 deficiency
  • p.Ala209= Single submitter Vitamin B2 deficiency
  • p.Ala312= Single submitter Vitamin B2 deficiency
  • p.Ala360= Single submitter Vitamin B2 deficiency
  • p.Ala396= Single submitter Vitamin B2 deficiency
  • p.Ala56= Single submitter Vitamin B2 deficiency
  • p.Ala56Val Single submitter Vitamin B2 deficiency
  • p.Ala93= Single submitter Vitamin B2 deficiency
  • p.Arg169= Single submitter Vitamin B2 deficiency
  • p.Arg439= Single submitter Vitamin B2 deficiency
  • p.Asn129= Single submitter Vitamin B2 deficiency
  • p.Asn28= Single submitter Vitamin B2 deficiency
  • p.Asp268= Single submitter Vitamin B2 deficiency
  • p.Gln234= Single submitter Vitamin B2 deficiency
  • p.Gln416= Single submitter Vitamin B2 deficiency
  • p.Gly228= Single submitter Vitamin B2 deficiency
  • p.Gly239= Single submitter Vitamin B2 deficiency
  • p.Gly295= Single submitter Vitamin B2 deficiency
  • p.Gly333= Single submitter Vitamin B2 deficiency
  • p.Gly341= Single submitter Vitamin B2 deficiency
  • p.Gly344Asp Single submitter Vitamin B2 deficiency
  • p.Gly374= Single submitter Vitamin B2 deficiency
  • p.Gly418= Single submitter Vitamin B2 deficiency
  • p.Gly76= Single submitter Vitamin B2 deficiency
  • p.His101= Single submitter Vitamin B2 deficiency
  • p.His110= Single submitter Vitamin B2 deficiency
  • p.Leu109= Single submitter Vitamin B2 deficiency
  • p.Leu139= Single submitter Vitamin B2 deficiency
  • p.Leu157= Single submitter Vitamin B2 deficiency
  • p.Leu185= Single submitter Vitamin B2 deficiency
  • p.Leu221= Single submitter
  • p.Leu282= Single submitter Vitamin B2 deficiency
  • p.Leu34= Single submitter Vitamin B2 deficiency
  • p.Leu359= Single submitter
  • p.Leu386Val Single submitter Vitamin B2 deficiency
  • p.Leu41= Single submitter Vitamin B2 deficiency
  • p.Leu420= Single submitter
  • p.Leu47= Single submitter Vitamin B2 deficiency
  • p.Leu60= Single submitter Vitamin B2 deficiency
  • p.Leu63= Single submitter Vitamin B2 deficiency
  • p.Phe135= Single submitter Vitamin B2 deficiency
  • p.Pro142= Single submitter Vitamin B2 deficiency
  • p.Pro192= Single submitter Vitamin B2 deficiency
  • p.Pro219= Single submitter Vitamin B2 deficiency
  • p.Pro307= Single submitter Vitamin B2 deficiency
  • p.Pro366= Single submitter
  • p.Pro428= Single submitter
  • p.Pro48= Single submitter Vitamin B2 deficiency
  • p.Pro73= Single submitter Vitamin B2 deficiency
  • p.Pro80= Single submitter Vitamin B2 deficiency
  • p.Ser128= Single submitter Vitamin B2 deficiency
  • p.Ser237= Single submitter
  • p.Ser304= Single submitter Vitamin B2 deficiency
  • p.Ser381= Single submitter Vitamin B2 deficiency
  • p.Thr127= Single submitter Vitamin B2 deficiency
  • p.Thr5= Single submitter Vitamin B2 deficiency
  • p.Tyr391= Single submitter Vitamin B2 deficiency
  • p.Val120= Single submitter Vitamin B2 deficiency
  • p.Val164= Single submitter Vitamin B2 deficiency
  • p.Val205= Single submitter Vitamin B2 deficiency
  • p.Val369= Single submitter ariboflavinosis
  • p.Val392= Single submitter Vitamin B2 deficiency
  • p.Val443= Single submitter Vitamin B2 deficiency
  • p.Val53= Single submitter Vitamin B2 deficiency
  • p.Val86= Single submitter Vitamin B2 deficiency

Uncertain significance 176