SLC22A1 — 86 ClinVar variants
All ClinVar germline SLC22A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
7 Benign · 6 Likely benign · 73 Uncertain significance
Full SLC22A1 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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC22A1 p.Ala370Thr Uncertain significance Single submitter
- SLC22A1 p.Ala67Val Uncertain significance Single submitter
- SLC22A1 p.Ala80Thr Uncertain significance Single submitter
- SLC22A1 p.Ala83Asp Uncertain significance Single submitter
- SLC22A1 p.Ala99Ser Uncertain significance Single submitter
- SLC22A1 p.Arg175Leu Uncertain significance Single submitter
- SLC22A1 p.Arg346Cys Uncertain significance Single submitter
- SLC22A1 p.Arg346Gly Uncertain significance Single submitter
- SLC22A1 p.Arg399His Uncertain significance Single submitter
- SLC22A1 p.Asn530Asp Uncertain significance Single submitter
- SLC22A1 p.Asp123Asn Uncertain significance Single submitter
- SLC22A1 p.Asp303Gly Uncertain significance Single submitter
- SLC22A1 p.Glu323Gln Uncertain significance Single submitter
- SLC22A1 p.Glu323Lys Uncertain significance Single submitter
- SLC22A1 p.Glu328Lys Uncertain significance Single submitter
- SLC22A1 p.Glu57Gln Uncertain significance Single submitter
- SLC22A1 p.Glu57Lys Uncertain significance Single submitter
- SLC22A1 p.Gly131Ser Uncertain significance Single submitter
- SLC22A1 p.Gly162Asp Uncertain significance Single submitter
- SLC22A1 p.Gly165Asp Uncertain significance Single submitter
- SLC22A1 p.Gly373Arg Uncertain significance Single submitter
- SLC22A1 p.Ile434Met Uncertain significance Single submitter
- SLC22A1 p.Ile446Val Uncertain significance Single submitter
- SLC22A1 p.Leu180Pro Uncertain significance Single submitter
- SLC22A1 p.Leu350Pro Uncertain significance Single submitter
- SLC22A1 p.Leu375Phe Uncertain significance Single submitter
- SLC22A1 p.Leu411Phe Uncertain significance Single submitter
- SLC22A1 p.Leu42Arg Uncertain significance Single submitter
- SLC22A1 p.Leu505Phe Uncertain significance Single submitter
- SLC22A1 p.Leu70Val Uncertain significance Single submitter
- SLC22A1 p.Lys526Asn Uncertain significance Single submitter
- SLC22A1 p.Lys526Met Uncertain significance Single submitter
- SLC22A1 p.Lys538Arg Uncertain significance Single submitter
- SLC22A1 p.Met200Arg Uncertain significance Single submitter
- SLC22A1 p.Met368Ile Uncertain significance Single submitter
- SLC22A1 p.Met368Leu Uncertain significance Single submitter
- SLC22A1 p.Met368Thr Uncertain significance Single submitter
- SLC22A1 p.Met408Ile Uncertain significance Single submitter
- SLC22A1 p.Phe169Leu Uncertain significance Single submitter
- SLC22A1 p.Phe422Ser Uncertain significance Single submitter
- SLC22A1 p.Phe84Ile Uncertain significance Single submitter
- SLC22A1 p.Pro313Leu Uncertain significance Single submitter
- SLC22A1 p.Pro79Leu Uncertain significance Single submitter
- SLC22A1 p.Ser213Thr Uncertain significance Single submitter
- SLC22A1 p.Ser358Cys Uncertain significance Single submitter
- SLC22A1 p.Thr396Ile Uncertain significance Single submitter
- SLC22A1 p.Thr541Met Uncertain significance Single submitter
- SLC22A1 p.Thr554Ala Uncertain significance Single submitter
- SLC22A1 p.Thr554Ile Uncertain significance Single submitter
- SLC22A1 p.Trp280Cys Uncertain significance Single submitter
- SLC22A1 p.Tyr168His Uncertain significance Single submitter
- SLC22A1 p.Val40Ile Uncertain significance Single submitter
- SLC22A1 p.Val490Phe Uncertain significance Single submitter
- SLC22A1 p.Val55Leu Uncertain significance Single submitter
-
SLC22A1 p.Arg175Cys
Uncertain significance
No assertion criteria
Hirschsprung disease
Predictors split 12
The independent predictors disagree with each other — read with care.
- SLC22A1 p.Arg89Gly Uncertain significance Single submitter
- SLC22A1 p.Asn112Ser Uncertain significance Single submitter
- SLC22A1 p.Cys473Tyr Uncertain significance Single submitter
- SLC22A1 p.Ile365Thr Uncertain significance Single submitter
- SLC22A1 p.Met351Ile Uncertain significance Single submitter
- SLC22A1 p.Phe151Leu Uncertain significance Single submitter
- SLC22A1 p.Phe485Val Uncertain significance Single submitter
- SLC22A1 p.Ser114Asn Uncertain significance Single submitter
- SLC22A1 p.Trp491Cys Uncertain significance Single submitter
- SLC22A1 p.Tyr168Cys Uncertain significance Single submitter
- SLC22A1 p.Tyr72Cys Uncertain significance Single submitter
- SLC22A1 p.Val11Ala Uncertain significance Single submitter
All SLC22A1 variants
Benign 7
- c.1276+9_1276+16del Single submitter
- p.Asn186= Single submitter
- p.Gly165Cys Single submitter
- p.Leu464= Single submitter
- p.Met408Val Single submitter
- p.Met440Ile Single submitter
- p.Ser549= Single submitter
Likely benign 6
Uncertain significance 73
- p.Ala370Thr Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Ala83Asp Single submitter ⚠
- p.Ala99Ser Single submitter ⚠
- p.Arg175Leu Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg346Gly Single submitter ⚠
- p.Arg399His Single submitter ⚠
- p.Arg439Gln Single submitter
- p.Arg89Gly Single submitter ⚠
- p.Asn112Ser Single submitter ⚠
- p.Asn530Asp Single submitter ⚠
- p.Asp123Asn Single submitter ⚠
- p.Asp303Gly Single submitter ⚠
- p.Cys473Tyr Single submitter ⚠
- p.Glu323Gln Single submitter ⚠
- p.Glu323Lys Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Glu57Gln Single submitter ⚠
- p.Glu57Lys Single submitter ⚠
- p.Gly131Ser Single submitter ⚠
- p.Gly162Asp Single submitter ⚠
- p.Gly165Asp Single submitter ⚠
- p.Gly373Arg Single submitter ⚠
- p.Ile365Thr Single submitter ⚠
- p.Ile434Met Single submitter ⚠
- p.Ile446Val Single submitter ⚠
- p.Leu180Pro Single submitter ⚠
- p.Leu25Ser Single submitter
- p.Leu350Pro Single submitter ⚠
- p.Leu375Phe Single submitter ⚠
- p.Leu411Phe Single submitter ⚠
- p.Leu42Arg Single submitter ⚠
- p.Leu505Phe Single submitter ⚠
- p.Leu70Val Single submitter ⚠
- p.Lys311Asn Single submitter
- p.Lys526Asn Single submitter ⚠
- p.Lys526Met Single submitter ⚠
- p.Lys538Arg Single submitter ⚠
- p.Met200Arg Single submitter ⚠
- p.Met351Ile Single submitter ⚠
- p.Met368Ile Single submitter ⚠
- p.Met368Leu Single submitter ⚠
- p.Met368Thr Single submitter ⚠
- p.Met408Ile Single submitter ⚠
- p.Phe151Leu Single submitter ⚠
- p.Phe169Leu Single submitter ⚠
- p.Phe422Ser Single submitter ⚠
- p.Phe485Val Single submitter ⚠
- p.Phe84Ile Single submitter ⚠
- p.Pro313Leu Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Ser114Asn Single submitter ⚠
- p.Ser213Thr Single submitter ⚠
- p.Ser358Cys Single submitter ⚠
- p.Ser471Phe Single submitter
- p.Ser65Arg Single submitter
- p.Thr396Ile Single submitter ⚠
- p.Thr480Asn Single submitter
- p.Thr541Met Single submitter ⚠
- p.Thr554Ala Single submitter ⚠
- p.Thr554Ile Single submitter ⚠
- p.Trp280Cys Single submitter ⚠
- p.Trp491Cys Single submitter ⚠
- p.Tyr168Cys Single submitter ⚠
- p.Tyr168His Single submitter ⚠
- p.Tyr72Cys Single submitter ⚠
- p.Val11Ala Single submitter ⚠
- p.Val40Ile Single submitter ⚠
- p.Val490Phe Single submitter ⚠
- p.Val55Leu Single submitter ⚠
- p.Arg175Cys No assertion criteria Hirschsprung disease ⚠