SLC67A1 — 53 ClinVar variants
All ClinVar germline SLC67A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Conflicting · 6 Benign · 8 Likely benign · 38 Uncertain significance
Full SLC67A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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SLC67A1 p.Arg86His
Conflicting
No assertion criteria
SLC22A18-related disorder
Predictors lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC67A1 p.Ala135Asp Uncertain significance Single submitter
- SLC67A1 p.Ala91Ser Uncertain significance Single submitter
- SLC67A1 p.Ala99Thr Uncertain significance Single submitter
- SLC67A1 p.Arg155Gln Uncertain significance Single submitter
- SLC67A1 p.Arg236Trp Uncertain significance Single submitter
- SLC67A1 p.Arg52Gln Uncertain significance Single submitter
- SLC67A1 p.Arg89Pro Uncertain significance Single submitter
- SLC67A1 p.Asp227Asn Uncertain significance Single submitter
- SLC67A1 p.Asp267Val Uncertain significance Single submitter
- SLC67A1 p.Asp421Asn Uncertain significance Single submitter
- SLC67A1 p.Gly11Ser Uncertain significance Single submitter
- SLC67A1 p.Gly161Arg Uncertain significance Single submitter
- SLC67A1 p.Ile202Val Uncertain significance Single submitter
- SLC67A1 p.Leu102Val Uncertain significance Single submitter
- SLC67A1 p.Leu235Pro Uncertain significance Single submitter
- SLC67A1 p.Leu271Pro Uncertain significance Single submitter
- SLC67A1 p.Leu54Pro Uncertain significance Single submitter
- SLC67A1 p.Met138Val Uncertain significance Single submitter
- SLC67A1 p.Met17Ile Uncertain significance Single submitter
- SLC67A1 p.Met416Thr Uncertain significance Single submitter
- SLC67A1 p.Pro417Leu Uncertain significance Single submitter
- SLC67A1 p.Ser123Ala Uncertain significance Single submitter
- SLC67A1 p.Val318Leu Uncertain significance Single submitter
- SLC67A1 p.Val31Met Uncertain significance Single submitter
- SLC67A1 p.Val383Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- SLC67A1 p.Arg22Gln Benign Multiple submitters
- SLC67A1 p.Ala187Val Uncertain significance Single submitter
- SLC67A1 p.Asp142Gly Uncertain significance Single submitter
- SLC67A1 p.His131Tyr Uncertain significance Single submitter
- SLC67A1 p.Met138Ile Uncertain significance Single submitter
- SLC67A1 p.Ser303Leu Uncertain significance Single submitter
- SLC67A1 p.Ser311Thr Uncertain significance Single submitter
- SLC67A1 p.Thr364Ile Uncertain significance Single submitter
All SLC67A1 variants
Conflicting classifications of pathogenicity 1
- p.Arg86His No assertion criteria SLC22A18-related disorder ⚠
Benign 6
- c.-133+232A>G Multiple submitters
- p.Arg22Gln Multiple submitters ⚠
- p.Gln418= Multiple submitters
- p.Ser358Pro Multiple submitters
- p.His398= Single submitter
- p.Tyr178fs No assertion criteria SLC22A18-related disorder
Likely benign 8
- p.Ala151= Single submitter
- p.Ala213Thr Single submitter
- p.Ala232Thr Single submitter
- p.Leu169= Single submitter
- p.Pro216Ala Single submitter
- p.Val328Ile Single submitter
- p.Val395Ile Single submitter
- p.Ala204Thr No assertion criteria SLC22A18-related disorder
Uncertain significance 38
- c.865-1046C>T Single submitter lung adenocarcinoma
- p.Ala135Asp Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala91Ser Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg155Gln Single submitter ⚠
- p.Arg236Trp Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Arg89Pro Single submitter ⚠
- p.Asn404Thr Single submitter
- p.Asp142Gly Single submitter ⚠
- p.Asp227Asn Single submitter ⚠
- p.Asp267Val Single submitter ⚠
- p.Asp350Asn Single submitter
- p.Asp421Asn Single submitter ⚠
- p.Gly11Ser Single submitter ⚠
- p.Gly161Arg Single submitter ⚠
- p.Gly171Ser Single submitter
- p.His131Tyr Single submitter ⚠
- p.Ile202Val Single submitter ⚠
- p.Leu102Val Single submitter ⚠
- p.Leu235Pro Single submitter ⚠
- p.Leu271Pro Single submitter ⚠
- p.Leu54Pro Single submitter ⚠
- p.Met138Ile Single submitter ⚠
- p.Met138Val Single submitter ⚠
- p.Met17Ile Single submitter ⚠
- p.Met416Thr Single submitter ⚠
- p.Pro417Leu Single submitter ⚠
- p.Ser123Ala Single submitter ⚠
- p.Ser303Leu Single submitter ⚠
- p.Ser311Thr Single submitter ⚠
- p.Thr364Ile Single submitter ⚠
- p.Val225Gly Single submitter
- p.Val240Phe Single submitter
- p.Val318Leu Single submitter ⚠
- p.Val31Met Single submitter ⚠
- p.Val383Ile Single submitter ⚠