SLC20A1 — 74 ClinVar variants
All ClinVar germline SLC20A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
1 Benign · 7 Likely benign · 66 Uncertain significance
Full SLC20A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC20A1 p.Ala188Gly Uncertain significance Single submitter
- SLC20A1 p.Ala453Val Uncertain significance Single submitter
- SLC20A1 p.Arg414Cys Uncertain significance Single submitter
- SLC20A1 p.Arg645His Uncertain significance Single submitter
- SLC20A1 p.Cys238Phe Uncertain significance Single submitter
- SLC20A1 p.Cys264Arg Uncertain significance Single submitter
- SLC20A1 p.Gln369His Uncertain significance Single submitter
- SLC20A1 p.Gly222Val Uncertain significance Single submitter
- SLC20A1 p.Gly408Ser Uncertain significance Single submitter
- SLC20A1 p.Gly495Arg Uncertain significance Single submitter
- SLC20A1 p.Gly498Val Uncertain significance Single submitter
- SLC20A1 p.Gly571Arg Uncertain significance Single submitter
- SLC20A1 p.His375Arg Uncertain significance Single submitter
- SLC20A1 p.Ile138Val Uncertain significance Single submitter
- SLC20A1 p.Ile156Val Uncertain significance Single submitter
- SLC20A1 p.Ile213Thr Uncertain significance Single submitter
- SLC20A1 p.Ile344Val Uncertain significance Single submitter
- SLC20A1 p.Ile562Val Uncertain significance Single submitter
- SLC20A1 p.Ile584Thr Uncertain significance Single submitter
- SLC20A1 p.Ile594Val Uncertain significance Single submitter
- SLC20A1 p.Ile612Met Uncertain significance Single submitter
- SLC20A1 p.Leu185Arg Uncertain significance Single submitter
- SLC20A1 p.Leu185Phe Uncertain significance Single submitter
- SLC20A1 p.Leu210Val Uncertain significance Single submitter
- SLC20A1 p.Leu308Phe Uncertain significance Single submitter
- SLC20A1 p.Leu474Arg Uncertain significance Single submitter
- SLC20A1 p.Leu608Phe Uncertain significance Single submitter
- SLC20A1 p.Lys151Arg Uncertain significance Single submitter
- SLC20A1 p.Lys225Arg Uncertain significance Single submitter
- SLC20A1 p.Lys255Arg Uncertain significance Single submitter
- SLC20A1 p.Lys436Arg Uncertain significance Single submitter
- SLC20A1 p.Lys639Glu Uncertain significance Single submitter
- SLC20A1 p.Met160Leu Uncertain significance Single submitter
- SLC20A1 p.Pro219Leu Uncertain significance Single submitter
- SLC20A1 p.Pro303His Uncertain significance Single submitter
- SLC20A1 p.Pro355Leu Uncertain significance Single submitter
- SLC20A1 p.Ser235Leu Uncertain significance Single submitter
- SLC20A1 p.Ser372Cys Uncertain significance Single submitter
- SLC20A1 p.Ser472Cys Uncertain significance Single submitter
- SLC20A1 p.Ser483Asn Uncertain significance Single submitter
- SLC20A1 p.Thr137Ala Uncertain significance Single submitter
- SLC20A1 p.Thr205Ile Uncertain significance Single submitter
- SLC20A1 p.Thr551Ser Uncertain significance Single submitter
- SLC20A1 p.Thr8Ala Uncertain significance Single submitter
- SLC20A1 p.Tyr567Cys Uncertain significance Single submitter
- SLC20A1 p.Val19Gly Uncertain significance Single submitter
- SLC20A1 p.Val19Met Uncertain significance Single submitter
- SLC20A1 p.Val301Glu Uncertain significance Single submitter
- SLC20A1 p.Val306Met Uncertain significance Single submitter
- SLC20A1 p.Val366Ile Uncertain significance Single submitter
- SLC20A1 p.Val484Phe Uncertain significance Single submitter
- SLC20A1 p.Val535Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- SLC20A1 p.Ala670Thr Uncertain significance Single submitter
- SLC20A1 p.Arg196Gln Uncertain significance Single submitter
- SLC20A1 p.Arg256Gly Uncertain significance Single submitter
- SLC20A1 p.Arg645Cys Uncertain significance Single submitter
- SLC20A1 p.Leu220Ser Uncertain significance Single submitter
- SLC20A1 p.Ser173Cys Uncertain significance Single submitter
- SLC20A1 p.Ser512Cys Uncertain significance Single submitter
- SLC20A1 p.Trp635Cys Uncertain significance Single submitter
- SLC20A1 p.Tyr418Phe Uncertain significance Single submitter
- SLC20A1 p.Val578Leu Uncertain significance Single submitter
- SLC20A1 p.Val611Met Uncertain significance Single submitter
- SLC20A1 p.Val631Met Uncertain significance Single submitter
All SLC20A1 variants
Benign 1
- p.Ala351Thr Multiple submitters
Likely benign 7
- p.Ala136= Single submitter
- p.Gly498Ser Single submitter
- p.Thr380= Single submitter
- c.1048+9G>C No assertion criteria SLC20A1-related disorder
- c.562-3C>T No assertion criteria SLC20A1-related disorder
- p.Ser407= No assertion criteria SLC20A1-related disorder
- p.Thr137= No assertion criteria SLC20A1-related disorder
Uncertain significance 66
- p.Ala188Gly Single submitter ⚠
- p.Ala453Val Single submitter ⚠
- p.Ala670Thr Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg256Gly Single submitter ⚠
- p.Arg414Cys Single submitter ⚠
- p.Arg645Cys Single submitter ⚠
- p.Arg645His Single submitter ⚠
- p.Cys238Phe Single submitter ⚠
- p.Cys264Arg Single submitter ⚠
- p.Gln369His Single submitter ⚠
- p.Gly222Val Single submitter ⚠
- p.Gly408Ser Single submitter ⚠
- p.Gly495Arg Single submitter ⚠
- p.Gly498Val Single submitter ⚠
- p.Gly571Arg Single submitter ⚠
- p.His375Arg Single submitter ⚠
- p.Ile138Val Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile213Thr Single submitter ⚠
- p.Ile344Val Single submitter ⚠
- p.Ile562Val Single submitter ⚠
- p.Ile584Thr Single submitter ⚠
- p.Ile594Val Single submitter ⚠
- p.Ile612Met Single submitter ⚠
- p.Leu185Arg Single submitter ⚠
- p.Leu185Phe Single submitter ⚠
- p.Leu210Val Single submitter ⚠
- p.Leu220Ser Single submitter ⚠
- p.Leu308Phe Single submitter ⚠
- p.Leu474Arg Single submitter ⚠
- p.Leu608Phe Single submitter ⚠
- p.Lys151Arg Single submitter ⚠
- p.Lys225Arg Single submitter ⚠
- p.Lys255Arg Single submitter ⚠
- p.Lys436Arg Single submitter ⚠
- p.Lys639Glu Single submitter ⚠
- p.Met160Leu Single submitter ⚠
- p.Pro219Leu Single submitter ⚠
- p.Pro303His Single submitter ⚠
- p.Pro355Leu Single submitter ⚠
- p.Ser173Cys Single submitter ⚠
- p.Ser235Leu Single submitter ⚠
- p.Ser372Cys Single submitter ⚠
- p.Ser472Cys Single submitter ⚠
- p.Ser483Asn Single submitter ⚠
- p.Ser512Cys Single submitter ⚠
- p.Thr137Ala Single submitter ⚠
- p.Thr205Ile Single submitter ⚠
- p.Thr551Ser Single submitter ⚠
- p.Thr8Ala Single submitter ⚠
- p.Trp635Cys Single submitter ⚠
- p.Tyr418Phe Single submitter ⚠
- p.Tyr567Cys Single submitter ⚠
- p.Val180Leu Single submitter
- p.Val19Gly Single submitter ⚠
- p.Val19Met Single submitter ⚠
- p.Val301Glu Single submitter ⚠
- p.Val306Met Single submitter ⚠
- p.Val366Ile Single submitter ⚠
- p.Val400Leu Single submitter
- p.Val484Phe Single submitter ⚠
- p.Val535Ile Single submitter ⚠
- p.Val578Leu Single submitter ⚠
- p.Val611Met Single submitter ⚠
- p.Val631Met Single submitter ⚠