SLC10A1 — 170 ClinVar variants
All ClinVar germline SLC10A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
1 Pathogenic · 6 Likely pathogenic · 10 Conflicting · 8 Benign · 26 Likely benign · 119 Uncertain significance
Full SLC10A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC10A1 p.Gln293Glu Uncertain significance Multiple submitters
- SLC10A1 p.Glu342Lys Uncertain significance Multiple submitters
- SLC10A1 p.Gly173Arg Uncertain significance Multiple submitters
- SLC10A1 p.Gly332Arg Uncertain significance Multiple submitters
- SLC10A1 p.Ile168Thr Uncertain significance Multiple submitters
- SLC10A1 p.Ile172Thr Uncertain significance Multiple submitters
-
SLC10A1 p.Ile195Leu
Uncertain significance
Multiple submitters
SLC10A1-related disorder
-
SLC10A1 p.Ile269Ser
Uncertain significance
Multiple submitters
hypercholanemia, familial, 2
- SLC10A1 p.Ile279Thr Uncertain significance Multiple submitters
- SLC10A1 p.Ile303Val Uncertain significance Multiple submitters
- SLC10A1 p.Met192Arg Uncertain significance Multiple submitters
- SLC10A1 p.Met290Ile Uncertain significance Multiple submitters
-
SLC10A1 p.Ser41Leu
Uncertain significance
Multiple submitters
hypercholanemia, familial, 2
- SLC10A1 p.Thr171Ile Uncertain significance Multiple submitters
- SLC10A1 p.Thr75Met Uncertain significance Multiple submitters
-
SLC10A1 p.Val187Leu
Uncertain significance
Multiple submitters
hypercholanemia, familial, 2
- SLC10A1 p.Ala207Thr Uncertain significance Single submitter
- SLC10A1 p.Ala333Thr Uncertain significance Single submitter
- SLC10A1 p.Ala6Thr Uncertain significance Single submitter
- SLC10A1 p.Ala8Asp Uncertain significance Single submitter
- SLC10A1 p.Ala8Val Uncertain significance Single submitter
- SLC10A1 p.Arg180Gln Uncertain significance Single submitter
- SLC10A1 p.Arg185His Uncertain significance Single submitter
- SLC10A1 p.Arg249Gln Uncertain significance Single submitter
- SLC10A1 p.Arg84Leu Uncertain significance Single submitter
- SLC10A1 p.Asn209Ser Uncertain significance Single submitter
- SLC10A1 p.Asn271Ser Uncertain significance Single submitter
- SLC10A1 p.Asp115Tyr Uncertain significance Single submitter
- SLC10A1 p.Asp343Ala Uncertain significance Single submitter
- SLC10A1 p.Cys198Gly Uncertain significance Single submitter
- SLC10A1 p.Cys250Tyr Uncertain significance Single submitter
- SLC10A1 p.Cys344Ser Uncertain significance Single submitter
- SLC10A1 p.Cys98Tyr Uncertain significance Single submitter
- SLC10A1 p.Glu277Val Uncertain significance Single submitter
- SLC10A1 p.Gly158Asp Uncertain significance Single submitter
- SLC10A1 p.Gly158Ser Uncertain significance Single submitter
- SLC10A1 p.Gly173Ala Uncertain significance Single submitter
- SLC10A1 p.Gly173Glu Uncertain significance Single submitter
- SLC10A1 p.Gly190Ala Uncertain significance Single submitter
- SLC10A1 p.Gly297Glu Uncertain significance Single submitter
- SLC10A1 p.Gly335Ala Uncertain significance Single submitter
- SLC10A1 p.Gly60Arg Uncertain significance Single submitter
- SLC10A1 p.Ile120Thr Uncertain significance Single submitter
- SLC10A1 p.Ile161Leu Uncertain significance Single submitter
- SLC10A1 p.Ile269Asn Uncertain significance Single submitter
- SLC10A1 p.Ile301Thr Uncertain significance Single submitter
- SLC10A1 p.Leu196Pro Uncertain significance Single submitter
- SLC10A1 p.Leu222Phe Uncertain significance Single submitter
- SLC10A1 p.Leu265Ile Uncertain significance Single submitter
- SLC10A1 p.Leu282Phe Uncertain significance Single submitter
- SLC10A1 p.Leu298Phe Uncertain significance Single submitter
- SLC10A1 p.Lys179Gln Uncertain significance Single submitter
- SLC10A1 p.Lys179Thr Uncertain significance Single submitter
- SLC10A1 p.Met116Ile Uncertain significance Single submitter
- SLC10A1 p.Met192Thr Uncertain significance Single submitter
- SLC10A1 p.Met256Arg Uncertain significance Single submitter
- SLC10A1 p.Met290Arg Uncertain significance Single submitter
- SLC10A1 p.Met290Val Uncertain significance Single submitter
- SLC10A1 p.Met319Ile Uncertain significance Single submitter
- SLC10A1 p.Met319Thr Uncertain significance Single submitter
- SLC10A1 p.Met34Val Uncertain significance Single submitter
- SLC10A1 p.Phe36Leu Uncertain significance Single submitter
- SLC10A1 p.Phe37Leu Uncertain significance Single submitter
- SLC10A1 p.Pro169Leu Uncertain significance Single submitter
- SLC10A1 p.Thr203Pro Uncertain significance Single submitter
- SLC10A1 p.Thr253Ser Uncertain significance Single submitter
- SLC10A1 p.Tyr186Phe Uncertain significance Single submitter
- SLC10A1 p.Tyr321His Uncertain significance Single submitter
-
SLC10A1 p.Tyr69His
Uncertain significance
Single submitter
SLC10A1-related disorder
- SLC10A1 p.Val200Ala Uncertain significance Single submitter
- SLC10A1 p.Val202Ile Uncertain significance Single submitter
- SLC10A1 p.Val278Leu Uncertain significance Single submitter
- SLC10A1 p.Val29Ile Uncertain significance Single submitter
-
SLC10A1 p.Gly114Arg
Uncertain significance
No assertion criteria
SLC10A1-related disorder
-
SLC10A1 p.Ile140Val
Uncertain significance
No assertion criteria
SLC10A1-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
- SLC10A1 p.Gly280Val Uncertain significance Multiple submitters
- SLC10A1 p.Ile223Thr Benign Multiple submitters
- SLC10A1 p.Phe234Leu Uncertain significance Multiple submitters
- SLC10A1 p.Phe274Ser Uncertain significance Multiple submitters
- SLC10A1 p.Ser99Leu Uncertain significance Multiple submitters
- SLC10A1 p.Val200Glu Uncertain significance Multiple submitters
- SLC10A1 p.Ala92Pro Uncertain significance Single submitter
- SLC10A1 p.Arg21Cys Uncertain significance Single submitter
- SLC10A1 p.Arg249Trp Uncertain significance Single submitter
- SLC10A1 p.Arg252Cys Uncertain significance Single submitter
-
SLC10A1 p.Arg252His
Conflicting
Single submitter
hypercholanemia, familial, 2
-
SLC10A1 p.Asp24Ala
Uncertain significance
Single submitter
hypercholanemia, familial, 2
-
SLC10A1 p.Cys198Arg
Conflicting
Single submitter
hypercholanemia, familial, 2
- SLC10A1 p.Cys260Arg Uncertain significance Single submitter
- SLC10A1 p.Glu296Lys Uncertain significance Single submitter
- SLC10A1 p.Gly190Arg Uncertain significance Single submitter
- SLC10A1 p.Ile208Thr Uncertain significance Single submitter
- SLC10A1 p.Leu35Ser Uncertain significance Single submitter
- SLC10A1 p.Lys179Glu Uncertain significance Single submitter
- SLC10A1 p.Lys309Glu Uncertain significance Single submitter
- SLC10A1 p.Met39Thr Uncertain significance Single submitter
- SLC10A1 p.Pro181Thr Uncertain significance Single submitter
- SLC10A1 p.Tyr146Cys Uncertain significance Single submitter
-
SLC10A1 p.Ser213Arg
Uncertain significance
No assertion criteria
SLC10A1-related disorder
All SLC10A1 variants
Pathogenic 1
- p.Cys125fs Single submitter hypercholanemia, familial, 2
Likely pathogenic 6
- c.356+2T>G Single submitter hypercholanemia, familial, 2
- p.Glu2Ter Single submitter SLC10A1-related disorder
- p.Met133fs Single submitter SLC10A1-related disorder
- p.Ser206fs Single submitter
- p.Tyr238fs Single submitter hypercholanemia, familial, 2
- p.Leu228fs No assertion criteria SLC10A1-related disorder
Conflicting classifications of pathogenicity 10
- c.568-1G>A Single submitter SLC10A1-related disorder
- p.Arg185Cys Single submitter ⚠
- p.Arg252His Single submitter hypercholanemia, familial, 2 ⚠
- p.Arg252Ser Single submitter ⚠
- p.Cys198Arg Single submitter hypercholanemia, familial, 2 ⚠
- p.Cys44Ter Single submitter hypercholanemia, familial, 2
- p.Leu222fs Single submitter hypercholanemia, familial, 2
- p.Leu35Ter Single submitter hypercholanemia, familial, 2
- p.Phe12fs Single submitter hypercholanemia, familial, 2
- p.Ser267Phe Single submitter hypercholanemia, familial, 2
Benign 8
- p.Asn209= Multiple submitters
- p.Ile223Thr Multiple submitters ⚠
- p.Lys151= Multiple submitters
- c.746+21del Single submitter
- c.746+7A>T Single submitter
- c.746+7del Single submitter
- p.Phe37= Single submitter
- p.Thr75= Single submitter
Likely benign 26
- p.Ile88Thr Multiple submitters hypercholanemia, familial, 2
- c.356+28C>A Single submitter
- c.567+24A>G Single submitter
- c.746+21dup Single submitter
- p.Asp343Glu Single submitter
- p.Phe310Ile Single submitter
- p.Val160Met Single submitter
- p.Val175Ile Single submitter
- c.356+6C>A No assertion criteria SLC10A1-related disorder
- c.357-3C>A No assertion criteria SLC10A1-related disorder
- c.357-4C>A No assertion criteria SLC10A1-related disorder
- c.*10T>C No assertion criteria SLC10A1-related disorder
- c.*9del No assertion criteria SLC10A1-related disorder
- p.Ala6= No assertion criteria SLC10A1-related disorder
- p.Arg21= No assertion criteria SLC10A1-related disorder
- p.Arg249= No assertion criteria SLC10A1-related disorder
- p.Asp149= No assertion criteria SLC10A1-related disorder
- p.Gly158= No assertion criteria SLC10A1-related disorder
- p.Ile214= No assertion criteria SLC10A1-related disorder
- p.Ile232Thr No assertion criteria SLC10A1-related disorder
- p.Ile93Val No assertion criteria SLC10A1-related disorder
- p.Leu176= No assertion criteria SLC10A1-related disorder
- p.Ser206= No assertion criteria SLC10A1-related disorder
- p.Thr45= No assertion criteria SLC10A1-related disorder
- p.Tyr238= No assertion criteria SLC10A1-related disorder
- p.Val200Met No assertion criteria SLC10A1-related disorder
Uncertain significance 119
- p.Gln293Glu Multiple submitters ⚠
- p.Glu342Lys Multiple submitters ⚠
- p.Gly173Arg Multiple submitters ⚠
- p.Gly280Val Multiple submitters ⚠
- p.Gly332Arg Multiple submitters ⚠
- p.Ile168Thr Multiple submitters ⚠
- p.Ile172Thr Multiple submitters ⚠
- p.Ile195Leu Multiple submitters SLC10A1-related disorder ⚠
- p.Ile269Ser Multiple submitters hypercholanemia, familial, 2 ⚠
- p.Ile279Thr Multiple submitters ⚠
- p.Ile303Val Multiple submitters ⚠
- p.Leu35del Multiple submitters SLC10A1-related disorder
- p.Met192Arg Multiple submitters ⚠
- p.Met290Ile Multiple submitters ⚠
- p.Phe234Leu Multiple submitters ⚠
- p.Phe274Ser Multiple submitters ⚠
- p.Ser41Leu Multiple submitters hypercholanemia, familial, 2 ⚠
- p.Ser99Leu Multiple submitters ⚠
- p.Thr171Ile Multiple submitters ⚠
- p.Thr203fs Multiple submitters
- p.Thr75Met Multiple submitters ⚠
- p.Val187Leu Multiple submitters hypercholanemia, familial, 2 ⚠
- p.Val200Glu Multiple submitters ⚠
- c.746+5del Single submitter
- c.747-7G>A Single submitter hypercholanemia, familial, 2
- p.Ala201= Single submitter hypercholanemia, familial, 2
- p.Ala207Thr Single submitter ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala8Asp Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala92Pro Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg21Cys Single submitter ⚠
- p.Arg249Gln Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Arg84Leu Single submitter ⚠
- p.Asn209Ser Single submitter ⚠
- p.Asn271Ser Single submitter ⚠
- p.Asp115Asn Single submitter
- p.Asp115Tyr Single submitter ⚠
- p.Asp24Ala Single submitter hypercholanemia, familial, 2 ⚠
- p.Asp343Ala Single submitter ⚠
- p.Cys198Gly Single submitter ⚠
- p.Cys250Tyr Single submitter ⚠
- p.Cys260Arg Single submitter ⚠
- p.Cys344Ser Single submitter ⚠
- p.Cys98Tyr Single submitter ⚠
- p.Glu277Val Single submitter ⚠
- p.Glu296Lys Single submitter ⚠
- p.Gly144= Single submitter
- p.Gly158Asp Single submitter ⚠
- p.Gly158Ser Single submitter ⚠
- p.Gly173Ala Single submitter ⚠
- p.Gly173Glu Single submitter ⚠
- p.Gly190Ala Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly191= Single submitter
- p.Gly297Glu Single submitter ⚠
- p.Gly335Ala Single submitter ⚠
- p.Gly60Arg Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Ile161Leu Single submitter ⚠
- p.Ile208Thr Single submitter ⚠
- p.Ile269Asn Single submitter ⚠
- p.Ile301Thr Single submitter ⚠
- p.Ile63= Single submitter
- p.Leu131= Single submitter
- p.Leu196Pro Single submitter ⚠
- p.Leu197= Single submitter
- p.Leu222Phe Single submitter ⚠
- p.Leu265Ile Single submitter ⚠
- p.Leu282= Single submitter
- p.Leu282Phe Single submitter ⚠
- p.Leu298Phe Single submitter ⚠
- p.Leu35Ser Single submitter ⚠
- p.Lys179Gln Single submitter ⚠
- p.Lys179Glu Single submitter ⚠
- p.Lys179Thr Single submitter ⚠
- p.Lys309Glu Single submitter ⚠
- p.Met116Ile Single submitter ⚠
- p.Met192Thr Single submitter ⚠
- p.Met256Arg Single submitter ⚠
- p.Met290Arg Single submitter ⚠
- p.Met290Val Single submitter ⚠
- p.Met319Ile Single submitter ⚠
- p.Met319Thr Single submitter ⚠
- p.Met34Val Single submitter ⚠
- p.Met39Thr Single submitter ⚠
- p.Met39Val Single submitter
- p.Phe36Leu Single submitter ⚠
- p.Phe37Leu Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Pro181Thr Single submitter ⚠
- p.Ser28= Single submitter
- p.Ser49= Single submitter
- p.Thr203Pro Single submitter ⚠
- p.Thr253Ser Single submitter ⚠
- p.Thr258Ser Single submitter
- p.Thr312= Single submitter
- p.Tyr146Cys Single submitter ⚠
- p.Tyr186Phe Single submitter ⚠
- p.Tyr321His Single submitter ⚠
- p.Tyr69His Single submitter SLC10A1-related disorder ⚠
- p.Val200Ala Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val210= Single submitter
- p.Val272Gly Single submitter
- p.Val278Leu Single submitter ⚠
- p.Val29Ile Single submitter ⚠
- c.746+2dup No assertion criteria SLC10A1-related disorder
- p.Gly114Arg No assertion criteria SLC10A1-related disorder ⚠
- p.Ile140Val No assertion criteria SLC10A1-related disorder ⚠
- p.Leu265fs No assertion criteria SLC10A1-related disorder
- p.Met215fs No assertion criteria SLC10A1-related disorder
- p.Ser213Arg No assertion criteria SLC10A1-related disorder ⚠
- p.Ser241fs No assertion criteria SLC10A1-related disorder