SLC47A2 — 93 ClinVar variants

All ClinVar germline SLC47A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

3 Benign · 8 Likely benign · 82 Uncertain significance

Full SLC47A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 lean, ClinVar uncertain 54

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

Predictors split 22

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

All SLC47A2 variants

Benign 3

c.532-64G>A Multiple submitters
p.Ala440= Single submitter
p.Gly393Arg Single submitter

Likely benign 8

c.532-36T>C Single submitter
p.Ala548Val Single submitter
p.Arg471Gln Single submitter
p.Arg532= Single submitter
p.Glu522Ala Single submitter
p.His524= Single submitter
p.Val333Ile Single submitter
p.Val84Ile Single submitter

Uncertain significance 82

c.532-21G>T Single submitter ⚠
c.532-54A>G Single submitter ⚠
c.532-8T>C Single submitter ⚠
p.Ala116Val Single submitter ⚠
p.Ala128Glu Single submitter ⚠
p.Ala128Val Single submitter ⚠
p.Ala213Thr Single submitter ⚠
p.Ala272Thr Single submitter ⚠
p.Ala292Ser Single submitter ⚠
p.Ala545Pro Single submitter ⚠
p.Ala548Glu Single submitter ⚠
p.Ala549Val Single submitter ⚠
p.Ala73Thr Single submitter ⚠
p.Ala9Asp Single submitter ⚠
p.Arg541Cys Single submitter ⚠
p.Arg541His Single submitter ⚠
p.Asn104Ser Single submitter ⚠
p.Asn198Ser Single submitter ⚠
p.Cys192Gly Single submitter ⚠
p.Gln291His Single submitter ⚠
p.Gln473Lys Single submitter ⚠
p.Gly109Asp Single submitter ⚠
p.Gly14Asp Single submitter ⚠
p.Gly28Glu Single submitter ⚠
p.Gly392Asp Single submitter ⚠
p.Gly497Arg Single submitter ⚠
p.Gly60Arg Single submitter ⚠
p.His107Arg Single submitter ⚠
p.His513Gln Single submitter ⚠
p.His61Gln Single submitter
p.His61Pro Single submitter ⚠
p.Ile217Val Single submitter ⚠
p.Ile275Val Single submitter ⚠
p.Ile387Met Single submitter ⚠
p.Ile414Asn Single submitter ⚠
p.Leu112Pro Single submitter ⚠
p.Leu207Gln Single submitter ⚠
p.Leu264Pro Single submitter ⚠
p.Leu34Pro Single submitter ⚠
p.Lys106Asn Single submitter
p.Lys235Asn Single submitter ⚠
p.Lys400Thr Single submitter ⚠
p.Met155Thr Single submitter ⚠
p.Met429Ile Single submitter ⚠
p.Met432Leu Single submitter ⚠
p.Met432Thr Single submitter ⚠
p.Phe278Leu Single submitter ⚠
p.Phe49Ser Single submitter ⚠
p.Phe58Leu Single submitter ⚠
p.Pro125Leu Single submitter
p.Pro159Ser Single submitter ⚠
p.Pro254Arg Single submitter ⚠
p.Pro418Thr Single submitter
p.Pro529Ser Single submitter ⚠
p.Ser102Arg Single submitter ⚠
p.Ser20Asn Single submitter ⚠
p.Ser246Asn Single submitter ⚠
p.Ser309Arg Single submitter ⚠
p.Ser338Arg Single submitter ⚠
p.Ser351Asn Single submitter ⚠
p.Ser372Thr Single submitter ⚠
p.Ser499Tyr Single submitter ⚠
p.Ser55Asn Single submitter ⚠
p.Ser97Thr Single submitter
p.Thr301Ser Single submitter ⚠
p.Thr33Ser Single submitter ⚠
p.Thr424Ala Single submitter ⚠
p.Thr424Ile Single submitter ⚠
p.Thr530Ile Single submitter ⚠
p.Thr558Met Single submitter ⚠
p.Thr56Ile Single submitter ⚠
p.Trp244Cys Single submitter ⚠
p.Trp244Leu Single submitter ⚠
p.Tyr507Ser Single submitter ⚠
p.Val110Met Single submitter ⚠
p.Val146Leu Single submitter ⚠
p.Val146Met Single submitter ⚠
p.Val336Met Single submitter ⚠
p.Val450Ile Single submitter ⚠
p.Val514Gly Single submitter ⚠
p.Val514Met Single submitter ⚠
p.Val54Met Single submitter