SLC8B1 — 82 ClinVar variants
All ClinVar germline SLC8B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
1 Likely benign · 81 Uncertain significance
Full SLC8B1 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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC8B1 p.Ala119Thr Uncertain significance Single submitter
- SLC8B1 p.Ala308Ser Uncertain significance Single submitter
- SLC8B1 p.Ala487Val Uncertain significance Single submitter
- SLC8B1 p.Arg222His Uncertain significance Single submitter
- SLC8B1 p.Arg277Trp Uncertain significance Single submitter
- SLC8B1 p.Arg416Lys Uncertain significance Single submitter
- SLC8B1 p.Arg480His Uncertain significance Single submitter
- SLC8B1 p.Arg485Gln Uncertain significance Single submitter
- SLC8B1 p.Arg513Gln Uncertain significance Single submitter
- SLC8B1 p.Arg54Cys Uncertain significance Single submitter
- SLC8B1 p.Arg69Gln Uncertain significance Single submitter
- SLC8B1 p.Asn149His Uncertain significance Single submitter
- SLC8B1 p.Asn283Asp Uncertain significance Single submitter
- SLC8B1 p.Asn71Lys Uncertain significance Single submitter
- SLC8B1 p.Asp272Tyr Uncertain significance Single submitter
- SLC8B1 p.Asp286Val Uncertain significance Single submitter
- SLC8B1 p.Asp73His Uncertain significance Single submitter
- SLC8B1 p.Gln298Arg Uncertain significance Single submitter
- SLC8B1 p.Glu383Asp Uncertain significance Single submitter
- SLC8B1 p.Glu383Gly Uncertain significance Single submitter
- SLC8B1 p.Glu85Gly Uncertain significance Single submitter
- SLC8B1 p.Gly168Ser Uncertain significance Single submitter
- SLC8B1 p.Gly178Asp Uncertain significance Single submitter
- SLC8B1 p.Gly386Ser Uncertain significance Single submitter
- SLC8B1 p.Gly44Val Uncertain significance Single submitter
- SLC8B1 p.Gly494Asp Uncertain significance Single submitter
- SLC8B1 p.Ile189Asn Uncertain significance Single submitter
- SLC8B1 p.Ile304Leu Uncertain significance Single submitter
- SLC8B1 p.Ile365Met Uncertain significance Single submitter
- SLC8B1 p.Ile36Val Uncertain significance Single submitter
- SLC8B1 p.Leu102Val Uncertain significance Single submitter
- SLC8B1 p.Leu401Met Uncertain significance Single submitter
- SLC8B1 p.Leu505Val Uncertain significance Single submitter
- SLC8B1 p.Met315Val Uncertain significance Single submitter
- SLC8B1 p.Phe40Cys Uncertain significance Single submitter
- SLC8B1 p.Phe476Leu Uncertain significance Single submitter
- SLC8B1 p.Pro293Leu Uncertain significance Single submitter
- SLC8B1 p.Pro367Leu Uncertain significance Single submitter
- SLC8B1 p.Pro41Leu Uncertain significance Single submitter
- SLC8B1 p.Pro72Ala Uncertain significance Single submitter
- SLC8B1 p.Pro97Leu Uncertain significance Single submitter
- SLC8B1 p.Ser130Cys Uncertain significance Single submitter
- SLC8B1 p.Ser258Tyr Uncertain significance Single submitter
- SLC8B1 p.Ser376Leu Uncertain significance Single submitter
- SLC8B1 p.Ser410Pro Uncertain significance Single submitter
- SLC8B1 p.Ser412Arg Uncertain significance Single submitter
- SLC8B1 p.Thr131Ile Uncertain significance Single submitter
- SLC8B1 p.Thr183Ser Uncertain significance Single submitter
- SLC8B1 p.Thr226Ala Uncertain significance Single submitter
- SLC8B1 p.Thr301Met Uncertain significance Single submitter
- SLC8B1 p.Thr70Ala Uncertain significance Single submitter
- SLC8B1 p.Tyr233Ser Uncertain significance Single submitter
- SLC8B1 p.Tyr287Cys Uncertain significance Single submitter
- SLC8B1 p.Tyr314His Uncertain significance Single submitter
- SLC8B1 p.Tyr379Cys Uncertain significance Single submitter
- SLC8B1 p.Val139Glu Uncertain significance Single submitter
- SLC8B1 p.Val179Met Uncertain significance Single submitter
- SLC8B1 p.Val24Leu Uncertain significance Single submitter
- SLC8B1 p.Val278Leu Uncertain significance Single submitter
- SLC8B1 p.Val344Ile Uncertain significance Single submitter
- SLC8B1 p.Val390Ile Uncertain significance Single submitter
- SLC8B1 p.Val393Met Uncertain significance Single submitter
- SLC8B1 p.Val404Ala Uncertain significance Single submitter
- SLC8B1 p.Val501Leu Uncertain significance Single submitter
- SLC8B1 p.Val501Met Uncertain significance Single submitter
- SLC8B1 p.Val56Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- SLC8B1 p.Arg255Trp Uncertain significance Single submitter
- SLC8B1 p.Arg513Pro Uncertain significance Single submitter
- SLC8B1 p.Arg64Cys Uncertain significance Single submitter
- SLC8B1 p.Asp346His Uncertain significance Single submitter
- SLC8B1 p.Glu335Lys Uncertain significance Single submitter
- SLC8B1 p.Ile384Thr Uncertain significance Single submitter
- SLC8B1 p.Leu500Val Uncertain significance Single submitter
- SLC8B1 p.Leu95Val Uncertain significance Single submitter
- SLC8B1 p.Tyr233His Uncertain significance Single submitter
- SLC8B1 p.Val345Met Uncertain significance Single submitter
All SLC8B1 variants
Likely benign 1
- p.Val207Ile Single submitter
Uncertain significance 81
- p.Ala119Thr Single submitter ⚠
- p.Ala308Ser Single submitter ⚠
- p.Ala487Val Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg255Trp Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg356Gln Single submitter
- p.Arg416Lys Single submitter ⚠
- p.Arg480His Single submitter ⚠
- p.Arg485Gln Single submitter ⚠
- p.Arg513Gln Single submitter ⚠
- p.Arg513Pro Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Asn149His Single submitter ⚠
- p.Asn283Asp Single submitter ⚠
- p.Asn71Lys Single submitter ⚠
- p.Asp272Tyr Single submitter ⚠
- p.Asp286Val Single submitter ⚠
- p.Asp346His Single submitter ⚠
- p.Asp73His Single submitter ⚠
- p.Gln298Arg Single submitter ⚠
- p.Glu335Lys Single submitter ⚠
- p.Glu383Asp Single submitter ⚠
- p.Glu383Gly Single submitter ⚠
- p.Glu85Gly Single submitter ⚠
- p.Gly168Ser Single submitter ⚠
- p.Gly178Asp Single submitter ⚠
- p.Gly380Asp Single submitter
- p.Gly386Ser Single submitter ⚠
- p.Gly44Val Single submitter ⚠
- p.Gly494Asp Single submitter ⚠
- p.Gly79Glu Single submitter
- p.Ile189Asn Single submitter ⚠
- p.Ile304Leu Single submitter ⚠
- p.Ile365Met Single submitter ⚠
- p.Ile36Val Single submitter ⚠
- p.Ile384Thr Single submitter ⚠
- p.Leu102Val Single submitter ⚠
- p.Leu401Met Single submitter ⚠
- p.Leu500Val Single submitter ⚠
- p.Leu505Val Single submitter ⚠
- p.Leu95Val Single submitter ⚠
- p.Met315Val Single submitter ⚠
- p.Phe40Cys Single submitter ⚠
- p.Phe476Leu Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro367Leu Single submitter ⚠
- p.Pro415Ser Single submitter
- p.Pro41Leu Single submitter ⚠
- p.Pro72Ala Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Ser130Cys Single submitter ⚠
- p.Ser258Tyr Single submitter ⚠
- p.Ser376Leu Single submitter ⚠
- p.Ser410Pro Single submitter ⚠
- p.Ser412Arg Single submitter ⚠
- p.Thr131Ile Single submitter ⚠
- p.Thr183Ser Single submitter ⚠
- p.Thr226Ala Single submitter ⚠
- p.Thr301Met Single submitter ⚠
- p.Thr70Ala Single submitter ⚠
- p.Trp229Cys Single submitter
- p.Tyr233His Single submitter ⚠
- p.Tyr233Ser Single submitter ⚠
- p.Tyr287Cys Single submitter ⚠
- p.Tyr314His Single submitter ⚠
- p.Tyr379Cys Single submitter ⚠
- p.Val139Glu Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val24Leu Single submitter ⚠
- p.Val278Leu Single submitter ⚠
- p.Val344Ile Single submitter ⚠
- p.Val345Met Single submitter ⚠
- p.Val390Ile Single submitter ⚠
- p.Val393Met Single submitter ⚠
- p.Val404Ala Single submitter ⚠
- p.Val501Leu Single submitter ⚠
- p.Val501Met Single submitter ⚠
- p.Val56Leu Single submitter ⚠