SLC8A1 — 111 ClinVar variants
All ClinVar germline SLC8A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
4 Benign · 8 Likely benign · 99 Uncertain significance
Full SLC8A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC8A1 p.Ala307Val Uncertain significance Single submitter
- SLC8A1 p.Ala322Val Uncertain significance Single submitter
- SLC8A1 p.Ala349Gly Uncertain significance Single submitter
- SLC8A1 p.Ala451Ser Uncertain significance Single submitter
- SLC8A1 p.Ala504Gly Uncertain significance Single submitter
- SLC8A1 p.Ala512Thr Uncertain significance Single submitter
- SLC8A1 p.Ala537Ser Uncertain significance Single submitter
- SLC8A1 p.Ala96Thr Uncertain significance Single submitter
- SLC8A1 p.Arg128Lys Uncertain significance Single submitter
- SLC8A1 p.Arg282Met Uncertain significance Single submitter
- SLC8A1 p.Arg941Trp Uncertain significance Single submitter
- SLC8A1 p.Asn119Ser Uncertain significance Single submitter
- SLC8A1 p.Asn297Ser Uncertain significance Single submitter
- SLC8A1 p.Asn3Asp Uncertain significance Single submitter
- SLC8A1 p.Asn896Ile Uncertain significance Single submitter
- SLC8A1 p.Asp192Glu Uncertain significance Single submitter
- SLC8A1 p.Asp448Asn Uncertain significance Single submitter
- SLC8A1 p.Asp448Gly Uncertain significance Single submitter
- SLC8A1 p.Asp507Gly Uncertain significance Single submitter
- SLC8A1 p.Asp761Glu Uncertain significance Single submitter
- SLC8A1 p.Asp762Glu Uncertain significance Single submitter
- SLC8A1 p.Cys592Trp Uncertain significance Single submitter
- SLC8A1 p.Cys949Phe Uncertain significance Single submitter
- SLC8A1 p.Gln658Arg Uncertain significance Single submitter
- SLC8A1 p.Glu321Val Uncertain significance Single submitter
- SLC8A1 p.Glu36Lys Uncertain significance Single submitter
- SLC8A1 p.Glu633Asp Uncertain significance Single submitter
- SLC8A1 p.Gly414Glu Uncertain significance Single submitter
- SLC8A1 p.Gly508Val Uncertain significance Single submitter
- SLC8A1 p.Gly583Asp Uncertain significance Single submitter
- SLC8A1 p.His494Arg Uncertain significance Single submitter
- SLC8A1 p.His514Asn Uncertain significance Single submitter
- SLC8A1 p.Ile129Val Uncertain significance Single submitter
- SLC8A1 p.Ile212Val Uncertain significance Single submitter
- SLC8A1 p.Ile244Met Uncertain significance Single submitter
- SLC8A1 p.Ile484Val Uncertain significance Single submitter
- SLC8A1 p.Ile509Leu Uncertain significance Single submitter
- SLC8A1 p.Ile553Val Uncertain significance Single submitter
- SLC8A1 p.Ile577Met Uncertain significance Single submitter
- SLC8A1 p.Ile698Thr Uncertain significance Single submitter
- SLC8A1 p.Ile752Val Uncertain significance Single submitter
- SLC8A1 p.Ile95Val Uncertain significance Single submitter
- SLC8A1 p.Leu645Phe Uncertain significance Single submitter
- SLC8A1 p.Leu645Pro Uncertain significance Single submitter
- SLC8A1 p.Leu964Pro Uncertain significance Single submitter
- SLC8A1 p.Lys499Arg Uncertain significance Single submitter
- SLC8A1 p.Lys499Ile Uncertain significance Single submitter
- SLC8A1 p.Lys944Glu Uncertain significance Single submitter
- SLC8A1 p.Met15Ile Uncertain significance Single submitter
- SLC8A1 p.Met15Val Uncertain significance Single submitter
- SLC8A1 p.Met39Val Uncertain significance Single submitter
- SLC8A1 p.Phe960Leu Uncertain significance Single submitter
- SLC8A1 p.Pro545Ala Uncertain significance Single submitter
- SLC8A1 p.Pro545Arg Uncertain significance Single submitter
- SLC8A1 p.Pro545Thr Uncertain significance Single submitter
- SLC8A1 p.Pro687Ser Uncertain significance Single submitter
- SLC8A1 p.Ser360Gly Uncertain significance Single submitter
- SLC8A1 p.Ser516Thr Uncertain significance Single submitter
- SLC8A1 p.Ser523Pro Uncertain significance Single submitter
- SLC8A1 p.Ser607Ala Uncertain significance Single submitter
- SLC8A1 p.Ser8Thr Uncertain significance Single submitter
- SLC8A1 p.Thr12Ile Uncertain significance Single submitter
- SLC8A1 p.Thr398Ile Uncertain significance Single submitter
- SLC8A1 p.Thr401Asn Uncertain significance Single submitter
- SLC8A1 p.Thr439Ala Uncertain significance Single submitter
- SLC8A1 p.Thr50Ile Uncertain significance Single submitter
- SLC8A1 p.Thr563Ile Uncertain significance Single submitter
- SLC8A1 p.Thr621Asn Uncertain significance Single submitter
- SLC8A1 p.Trp210Ser Uncertain significance Single submitter
- SLC8A1 p.Trp955Ser Uncertain significance Single submitter
- SLC8A1 p.Tyr188Ser Uncertain significance Single submitter
- SLC8A1 p.Val406Leu Uncertain significance Single submitter
- SLC8A1 p.Val572Leu Uncertain significance Single submitter
- SLC8A1 p.Val792Ile Uncertain significance Single submitter
- SLC8A1 p.Val835Ala Uncertain significance Single submitter
- SLC8A1 p.Val924Met Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- SLC8A1 p.Ala699Thr Uncertain significance Single submitter
- SLC8A1 p.Arg667Thr Uncertain significance Single submitter
- SLC8A1 p.Arg697Cys Uncertain significance Single submitter
- SLC8A1 p.Asp192Gly Uncertain significance Single submitter
- SLC8A1 p.Glu695Lys Uncertain significance Single submitter
- SLC8A1 p.Gly293Arg Uncertain significance Single submitter
- SLC8A1 p.His824Gln Uncertain significance Single submitter
- SLC8A1 p.Ile602Asn Uncertain significance Single submitter
- SLC8A1 p.Ile606Val Uncertain significance Single submitter
- SLC8A1 p.Lys336Asn Uncertain significance Single submitter
- SLC8A1 p.Lys467Asn Uncertain significance Single submitter
- SLC8A1 p.Met326Ile Uncertain significance Single submitter
- SLC8A1 p.Thr526Ala Uncertain significance Single submitter
- SLC8A1 p.Thr576Ser Uncertain significance Single submitter
- SLC8A1 p.Val493Met Uncertain significance Single submitter
- SLC8A1 p.Val777Leu Uncertain significance Single submitter
All SLC8A1 variants
Benign 4
Likely benign 8
Uncertain significance 99
- p.Ala307Val Single submitter ⚠
- p.Ala322Val Single submitter ⚠
- p.Ala349Gly Single submitter ⚠
- p.Ala451Ser Single submitter ⚠
- p.Ala504Gly Single submitter ⚠
- p.Ala512Thr Single submitter ⚠
- p.Ala537Ser Single submitter ⚠
- p.Ala699Thr Single submitter ⚠
- p.Ala96Thr Single submitter ⚠
- p.Arg128Lys Single submitter ⚠
- p.Arg282Met Single submitter ⚠
- p.Arg667Thr Single submitter ⚠
- p.Arg697Cys Single submitter ⚠
- p.Arg941Trp Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asn297Ser Single submitter ⚠
- p.Asn3Asp Single submitter ⚠
- p.Asn896Ile Single submitter ⚠
- p.Asp192Glu Single submitter ⚠
- p.Asp192Gly Single submitter ⚠
- p.Asp281His Single submitter
- p.Asp448Asn Single submitter ⚠
- p.Asp448Gly Single submitter ⚠
- p.Asp507Gly Single submitter ⚠
- p.Asp761Glu Single submitter ⚠
- p.Asp762Glu Single submitter ⚠
- p.Cys592Trp Single submitter ⚠
- p.Cys949Phe Single submitter ⚠
- p.Gln658Arg Single submitter ⚠
- p.Glu321Val Single submitter ⚠
- p.Glu36Lys Single submitter ⚠
- p.Glu633Asp Single submitter ⚠
- p.Glu695Lys Single submitter ⚠
- p.Gly293Arg Single submitter ⚠
- p.Gly306Cys Single submitter
- p.Gly414Glu Single submitter ⚠
- p.Gly508Val Single submitter ⚠
- p.Gly583Ala Single submitter
- p.Gly583Asp Single submitter ⚠
- p.His494Arg Single submitter ⚠
- p.His514Asn Single submitter ⚠
- p.His824Gln Single submitter ⚠
- p.Ile129Val Single submitter ⚠
- p.Ile212Val Single submitter ⚠
- p.Ile244Met Single submitter ⚠
- p.Ile244Thr Single submitter
- p.Ile289Thr Single submitter
- p.Ile484Val Single submitter ⚠
- p.Ile509Leu Single submitter ⚠
- p.Ile553Val Single submitter ⚠
- p.Ile577Met Single submitter ⚠
- p.Ile602Asn Single submitter ⚠
- p.Ile606Val Single submitter ⚠
- p.Ile698Thr Single submitter ⚠
- p.Ile752Val Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu645Phe Single submitter ⚠
- p.Leu645Pro Single submitter ⚠
- p.Leu964Pro Single submitter ⚠
- p.Lys336Asn Single submitter ⚠
- p.Lys467Asn Single submitter ⚠
- p.Lys499Arg Single submitter ⚠
- p.Lys499Ile Single submitter ⚠
- p.Lys944Glu Single submitter ⚠
- p.Met15Ile Single submitter ⚠
- p.Met15Val Single submitter ⚠
- p.Met326Ile Single submitter ⚠
- p.Met39Val Single submitter ⚠
- p.Phe960Leu Single submitter ⚠
- p.Pro545Ala Single submitter ⚠
- p.Pro545Arg Single submitter ⚠
- p.Pro545Thr Single submitter ⚠
- p.Pro687Ser Single submitter ⚠
- p.Ser360Gly Single submitter ⚠
- p.Ser516Thr Single submitter ⚠
- p.Ser523Pro Single submitter ⚠
- p.Ser607Ala Single submitter ⚠
- p.Ser8Thr Single submitter ⚠
- p.Ser903Phe Single submitter
- p.Thr12Ile Single submitter ⚠
- p.Thr398Ile Single submitter ⚠
- p.Thr401Asn Single submitter ⚠
- p.Thr439Ala Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Thr526Ala Single submitter ⚠
- p.Thr563Ile Single submitter ⚠
- p.Thr576Ser Single submitter ⚠
- p.Thr621Asn Single submitter ⚠
- p.Trp210Ser Single submitter ⚠
- p.Trp955Ser Single submitter ⚠
- p.Tyr188Ser Single submitter ⚠
- p.Tyr862His Single submitter
- p.Val406Leu Single submitter ⚠
- p.Val493Met Single submitter ⚠
- p.Val572Leu Single submitter ⚠
- p.Val777Leu Single submitter ⚠
- p.Val792Ile Single submitter ⚠
- p.Val835Ala Single submitter ⚠
- p.Val924Met Single submitter ⚠