SLC47A1 — 82 ClinVar variants
All ClinVar germline SLC47A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
3 Benign · 7 Likely benign · 72 Uncertain significance
Full SLC47A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC47A1 p.Ala120Val Uncertain significance Single submitter
- SLC47A1 p.Ala276Val Uncertain significance Single submitter
- SLC47A1 p.Ala294Val Uncertain significance Single submitter
- SLC47A1 p.Ala426Val Uncertain significance Single submitter
- SLC47A1 p.Ala473Thr Uncertain significance Single submitter
- SLC47A1 p.Arg24Leu Uncertain significance Single submitter
- SLC47A1 p.Arg333Trp Uncertain significance Single submitter
- SLC47A1 p.Arg568Lys Uncertain significance Single submitter
- SLC47A1 p.Asn195Lys Uncertain significance Single submitter
- SLC47A1 p.Asp508Asn Uncertain significance Single submitter
- SLC47A1 p.Glu330Val Uncertain significance Single submitter
- SLC47A1 p.Glu33Lys Uncertain significance Single submitter
- SLC47A1 p.Gly285Val Uncertain significance Single submitter
- SLC47A1 p.Gly293Ser Uncertain significance Single submitter
- SLC47A1 p.Gly415Glu Uncertain significance Single submitter
- SLC47A1 p.Gly484Arg Uncertain significance Single submitter
- SLC47A1 p.Gly534Ala Uncertain significance Single submitter
- SLC47A1 p.Gly91Ser Uncertain significance Single submitter
- SLC47A1 p.His207Arg Uncertain significance Single submitter
- SLC47A1 p.Ile55Met Uncertain significance Single submitter
- SLC47A1 p.Leu124Phe Uncertain significance Single submitter
- SLC47A1 p.Leu196Val Uncertain significance Single submitter
- SLC47A1 p.Leu221Ser Uncertain significance Single submitter
- SLC47A1 p.Leu227Val Uncertain significance Single submitter
- SLC47A1 p.Leu41Pro Uncertain significance Single submitter
- SLC47A1 p.Leu427Arg Uncertain significance Single submitter
- SLC47A1 p.Leu438Pro Uncertain significance Single submitter
- SLC47A1 p.Leu488Phe Uncertain significance Single submitter
- SLC47A1 p.Leu527Ser Uncertain significance Single submitter
- SLC47A1 p.Leu548Phe Uncertain significance Single submitter
- SLC47A1 p.Leu550Phe Uncertain significance Single submitter
- SLC47A1 p.Met269Ile Uncertain significance Single submitter
- SLC47A1 p.Met307Val Uncertain significance Single submitter
- SLC47A1 p.Met329Val Uncertain significance Single submitter
- SLC47A1 p.Met428Lys Uncertain significance Single submitter
- SLC47A1 p.Phe312Val Uncertain significance Single submitter
- SLC47A1 p.Pro129His Uncertain significance Single submitter
- SLC47A1 p.Pro7Ser Uncertain significance Single submitter
- SLC47A1 p.Ser151Phe Uncertain significance Single submitter
- SLC47A1 p.Ser284Arg Uncertain significance Single submitter
- SLC47A1 p.Ser296Phe Uncertain significance Single submitter
- SLC47A1 p.Ser59Asn Uncertain significance Single submitter
- SLC47A1 p.Thr103Pro Uncertain significance Single submitter
- SLC47A1 p.Thr168Ile Uncertain significance Single submitter
- SLC47A1 p.Thr446Ile Uncertain significance Single submitter
- SLC47A1 p.Val298Met Uncertain significance Single submitter
- SLC47A1 p.Val361Met Uncertain significance Single submitter
- SLC47A1 p.Val419Phe Uncertain significance Single submitter
- SLC47A1 p.Val451Gly Uncertain significance Single submitter
- SLC47A1 p.Val553Asp Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- SLC47A1 p.Ala42Val Uncertain significance Single submitter
- SLC47A1 p.Arg545Gln Uncertain significance Single submitter
- SLC47A1 p.Arg545Trp Uncertain significance Single submitter
- SLC47A1 p.Asn198Ser Uncertain significance Single submitter
- SLC47A1 p.Gln449Lys Uncertain significance Single submitter
- SLC47A1 p.Glu273Lys Uncertain significance Single submitter
- SLC47A1 p.Gly397Ser Uncertain significance Single submitter
- SLC47A1 p.Gly547Ala Uncertain significance Single submitter
- SLC47A1 p.Gly552Glu Uncertain significance Single submitter
- SLC47A1 p.Leu324Val Uncertain significance Single submitter
- SLC47A1 p.Met269Thr Uncertain significance Single submitter
- SLC47A1 p.Ser281Asn Uncertain significance Single submitter
- SLC47A1 p.Thr226Pro Uncertain significance Single submitter
- SLC47A1 p.Thr394Pro Uncertain significance Single submitter
- SLC47A1 p.Tyr203Cys Uncertain significance Single submitter
- SLC47A1 p.Val114Met Uncertain significance Single submitter
- SLC47A1 p.Val80Ala Uncertain significance Single submitter
All SLC47A1 variants
Benign 3
- p.Asp255= Multiple submitters
- p.Cys497Phe Multiple submitters
- p.Phe90= Multiple submitters
Likely benign 7
- p.Ala426Thr Single submitter
- p.Arg21His Single submitter
- p.Arg482Gln Single submitter
- p.His207= Single submitter
- p.Ile297Val Single submitter
- p.Pro481Ala Single submitter
- p.Thr506Met Single submitter
Uncertain significance 72
- p.Ala120Val Single submitter ⚠
- p.Ala276Val Single submitter ⚠
- p.Ala294Val Single submitter ⚠
- p.Ala426Val Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala473Thr Single submitter ⚠
- p.Arg24Leu Single submitter ⚠
- p.Arg319Trp Single submitter
- p.Arg333Trp Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg545Trp Single submitter ⚠
- p.Arg568Lys Single submitter ⚠
- p.Asn195Lys Single submitter ⚠
- p.Asn198Ser Single submitter ⚠
- p.Asp508Asn Single submitter ⚠
- p.Gln102Glu Single submitter
- p.Gln449Lys Single submitter ⚠
- p.Glu273Lys Single submitter ⚠
- p.Glu291Val Single submitter
- p.Glu330Val Single submitter ⚠
- p.Glu33Lys Single submitter ⚠
- p.Gly285Val Single submitter ⚠
- p.Gly293Ser Single submitter ⚠
- p.Gly397Ser Single submitter ⚠
- p.Gly415Glu Single submitter ⚠
- p.Gly484Arg Single submitter ⚠
- p.Gly534Ala Single submitter ⚠
- p.Gly547Ala Single submitter ⚠
- p.Gly552Glu Single submitter ⚠
- p.Gly91Ser Single submitter ⚠
- p.His207Arg Single submitter ⚠
- p.Ile55Met Single submitter ⚠
- p.Leu124Phe Single submitter ⚠
- p.Leu196Val Single submitter ⚠
- p.Leu221Ser Single submitter ⚠
- p.Leu227Val Single submitter ⚠
- p.Leu324Val Single submitter ⚠
- p.Leu41Pro Single submitter ⚠
- p.Leu427Arg Single submitter ⚠
- p.Leu438Pro Single submitter ⚠
- p.Leu488Phe Single submitter ⚠
- p.Leu527Ser Single submitter ⚠
- p.Leu548Phe Single submitter ⚠
- p.Leu550Phe Single submitter ⚠
- p.Met269Ile Single submitter ⚠
- p.Met269Thr Single submitter ⚠
- p.Met307Val Single submitter ⚠
- p.Met329Val Single submitter ⚠
- p.Met428Lys Single submitter ⚠
- p.Phe312Val Single submitter ⚠
- p.Phe388Ser Single submitter
- p.Pro129His Single submitter ⚠
- p.Pro186Leu Single submitter
- p.Pro7Ser Single submitter ⚠
- p.Ser151Phe Single submitter ⚠
- p.Ser281Asn Single submitter ⚠
- p.Ser284Arg Single submitter ⚠
- p.Ser296Phe Single submitter ⚠
- p.Ser59Asn Single submitter ⚠
- p.Thr103Pro Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr226Pro Single submitter ⚠
- p.Thr394Pro Single submitter ⚠
- p.Thr446Ile Single submitter ⚠
- p.Tyr203Cys Single submitter ⚠
- p.Val114Met Single submitter ⚠
- p.Val298Met Single submitter ⚠
- p.Val361Met Single submitter ⚠
- p.Val419Phe Single submitter ⚠
- p.Val451Gly Single submitter ⚠
- p.Val553Asp Single submitter ⚠
- p.Val80Ala Single submitter ⚠