SLC10A2 — 408 ClinVar variants
All ClinVar germline SLC10A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 215 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 23 Conflicting · 12 Benign · 6 Benign/Likely benign · 99 Likely benign · 265 Uncertain significance
Full SLC10A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 215
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- SLC10A2 p.Ala219Thr Conflicting Single submitter
- SLC10A2 p.Asn27Ser Conflicting Single submitter
-
SLC10A2 p.Gly139Arg
Conflicting
Single submitter
bile acid malabsorption, primary, 1
-
SLC10A2 p.Leu44Phe
Conflicting
Single submitter
bile acid malabsorption, primary, 1
-
SLC10A2 p.Phe304Leu
Conflicting
Single submitter
bile acid malabsorption, primary, 1
- SLC10A2 p.Pro142Leu Conflicting Single submitter
- SLC10A2 p.Pro65Leu Conflicting Single submitter
-
SLC10A2 p.Thr262Met
Conflicting
Single submitter
bile acid malabsorption, primary, 1
Predictors lean, ClinVar uncertain 164
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 164
-
SLC10A2 p.Ala111Val
Uncertain significance
Multiple submitters
SLC10A2-related disorder
-
SLC10A2 p.Ala116Val
Uncertain significance
Multiple submitters
bile acid malabsorption, primary, 1
- SLC10A2 p.Ala202Ser Uncertain significance Multiple submitters
- SLC10A2 p.Ala202Thr Uncertain significance Multiple submitters
- SLC10A2 p.Ala302Thr Uncertain significance Multiple submitters
- SLC10A2 p.Arg256Gln Uncertain significance Multiple submitters
- SLC10A2 p.Asn25Ile Uncertain significance Multiple submitters
- SLC10A2 p.Asp122Asn Uncertain significance Multiple submitters
-
SLC10A2 p.Asp124His
Uncertain significance
Multiple submitters
SLC10A2-related disorder
- SLC10A2 p.Asp154Asn Uncertain significance Multiple submitters
-
SLC10A2 p.Cys105Arg
Uncertain significance
Multiple submitters
bile acid malabsorption, primary, 1
- SLC10A2 p.Gly108Arg Uncertain significance Multiple submitters
- SLC10A2 p.Gly201Val Uncertain significance Multiple submitters
- SLC10A2 p.Gly241Trp Uncertain significance Multiple submitters
- SLC10A2 p.Gly60Glu Uncertain significance Multiple submitters
-
SLC10A2 p.Gly77Glu
Uncertain significance
Multiple submitters
bile acid malabsorption, primary, 1
- SLC10A2 p.Ile40Val Uncertain significance Multiple submitters
- SLC10A2 p.Ile62Val Uncertain significance Multiple submitters
- SLC10A2 p.Leu101His Uncertain significance Multiple submitters
- SLC10A2 p.Leu135Met Uncertain significance Multiple submitters
- SLC10A2 p.Leu172Pro Uncertain significance Multiple submitters
- SLC10A2 p.Leu244Met Uncertain significance Multiple submitters
- SLC10A2 p.Leu73Phe Uncertain significance Multiple submitters
- SLC10A2 p.Met264Val Uncertain significance Multiple submitters
- SLC10A2 p.Pro161Arg Uncertain significance Multiple submitters
- SLC10A2 p.Pro280Ala Uncertain significance Multiple submitters
- SLC10A2 p.Pro290Leu Uncertain significance Multiple submitters
- SLC10A2 p.Pro80His Uncertain significance Multiple submitters
- SLC10A2 p.Pro94Leu Uncertain significance Multiple submitters
-
SLC10A2 p.Ser133Cys
Uncertain significance
Multiple submitters
bile acid malabsorption, primary, 1
- SLC10A2 p.Ser133Phe Uncertain significance Multiple submitters
- SLC10A2 p.Ser15Pro Uncertain significance Multiple submitters
- SLC10A2 p.Ser18Phe Uncertain significance Multiple submitters
- SLC10A2 p.Ser277Pro Uncertain significance Multiple submitters
- SLC10A2 p.Ser87Leu Uncertain significance Multiple submitters
-
SLC10A2 p.Thr130Ile
Uncertain significance
Multiple submitters
bile acid malabsorption, primary, 1
- SLC10A2 p.Thr130Ser Uncertain significance Multiple submitters
- SLC10A2 p.Thr167Ile Uncertain significance Multiple submitters
- SLC10A2 p.Thr267Met Uncertain significance Multiple submitters
- SLC10A2 p.Thr279Ser Uncertain significance Multiple submitters
- SLC10A2 p.Thr288Ser Uncertain significance Multiple submitters
- SLC10A2 p.Thr330Met Uncertain significance Multiple submitters
- SLC10A2 p.Val100Ala Uncertain significance Multiple submitters
- SLC10A2 p.Val127Ile Uncertain significance Multiple submitters
- SLC10A2 p.Val211Ala Uncertain significance Multiple submitters
- SLC10A2 p.Val286Ile Uncertain significance Multiple submitters
- SLC10A2 p.Val45Met Uncertain significance Multiple submitters
- SLC10A2 p.Ala111Ser Uncertain significance Single submitter
- SLC10A2 p.Ala17Val Uncertain significance Single submitter
- SLC10A2 p.Ala200Thr Uncertain significance Single submitter
- SLC10A2 p.Ala200Val Uncertain significance Single submitter
- SLC10A2 p.Ala219Ser Uncertain significance Single submitter
- SLC10A2 p.Ala236Thr Uncertain significance Single submitter
- SLC10A2 p.Ala236Val Uncertain significance Single submitter
- SLC10A2 p.Ala339Thr Uncertain significance Single submitter
- SLC10A2 p.Arg246Lys Uncertain significance Single submitter
- SLC10A2 p.Arg64Gln Uncertain significance Single submitter
- SLC10A2 p.Asn183His Uncertain significance Single submitter
- SLC10A2 p.Asn25Ser Uncertain significance Single submitter
- SLC10A2 p.Asn27Asp Uncertain significance Single submitter
- SLC10A2 p.Asn28Ser Uncertain significance Single submitter
- SLC10A2 p.Asn328Asp Uncertain significance Single submitter
- SLC10A2 p.Asn328Ser Uncertain significance Single submitter
- SLC10A2 p.Asp120Asn Uncertain significance Single submitter
- SLC10A2 p.Asp3Glu Uncertain significance Single submitter
- SLC10A2 p.Asp9His Uncertain significance Single submitter
- SLC10A2 p.Cys105Phe Uncertain significance Single submitter
- SLC10A2 p.Cys106Arg Uncertain significance Single submitter
- SLC10A2 p.Cys132Phe Uncertain significance Single submitter
- SLC10A2 p.Cys74Tyr Uncertain significance Single submitter
- SLC10A2 p.Gln217Glu Uncertain significance Single submitter
- SLC10A2 p.Gln297Leu Uncertain significance Single submitter
- SLC10A2 p.Glu261Gly Uncertain significance Single submitter
- SLC10A2 p.Glu324Val Uncertain significance Single submitter
- SLC10A2 p.Glu327Lys Uncertain significance Single submitter
- SLC10A2 p.Glu347Lys Uncertain significance Single submitter
- SLC10A2 p.Gly139Glu Uncertain significance Single submitter
- SLC10A2 p.Gly166Val Uncertain significance Single submitter
- SLC10A2 p.Gly179Val Uncertain significance Single submitter
- SLC10A2 p.Gly263Arg Uncertain significance Single submitter
- SLC10A2 p.Gly67Asp Uncertain significance Single submitter
- SLC10A2 p.Gly71Ser Uncertain significance Single submitter
- SLC10A2 p.Gly83Arg Uncertain significance Single submitter
- SLC10A2 p.Ile102Val Uncertain significance Single submitter
- SLC10A2 p.Ile114Val Uncertain significance Single submitter
- SLC10A2 p.Ile158Val Uncertain significance Single submitter
- SLC10A2 p.Ile160Val Uncertain significance Single submitter
- SLC10A2 p.Ile165Thr Uncertain significance Single submitter
- SLC10A2 p.Ile178Thr Uncertain significance Single submitter
- SLC10A2 p.Ile178Val Uncertain significance Single submitter
- SLC10A2 p.Ile192Met Uncertain significance Single submitter
- SLC10A2 p.Ile193Met Uncertain significance Single submitter
- SLC10A2 p.Ile205Met Uncertain significance Single submitter
- SLC10A2 p.Ile214Val Uncertain significance Single submitter
- SLC10A2 p.Ile222Leu Uncertain significance Single submitter
- SLC10A2 p.Ile222Phe Uncertain significance Single submitter
- SLC10A2 p.Ile232Thr Uncertain significance Single submitter
- SLC10A2 p.Ile247Val Uncertain significance Single submitter
- SLC10A2 p.Ile303Val Uncertain significance Single submitter
- SLC10A2 p.Ile55Met Uncertain significance Single submitter
- SLC10A2 p.Ile62Arg Uncertain significance Single submitter
- SLC10A2 p.Ile62Leu Uncertain significance Single submitter
- SLC10A2 p.Leu138Arg Uncertain significance Single submitter
- SLC10A2 p.Leu138Phe Uncertain significance Single submitter
- SLC10A2 p.Leu194Ile Uncertain significance Single submitter
-
SLC10A2 p.Leu207Arg
Uncertain significance
Single submitter
SLC10A2-related disorder
- SLC10A2 p.Leu207Phe Uncertain significance Single submitter
- SLC10A2 p.Leu226Gln Uncertain significance Single submitter
- SLC10A2 p.Leu243Pro Uncertain significance Single submitter
- SLC10A2 p.Leu244Pro Uncertain significance Single submitter
- SLC10A2 p.Leu298Val Uncertain significance Single submitter
- SLC10A2 p.Leu93Phe Uncertain significance Single submitter
- SLC10A2 p.Leu93Val Uncertain significance Single submitter
- SLC10A2 p.Lys185Ile Uncertain significance Single submitter
- SLC10A2 p.Lys57Glu Uncertain significance Single submitter
- SLC10A2 p.Met129Val Uncertain significance Single submitter
- SLC10A2 p.Met141Lys Uncertain significance Single submitter
- SLC10A2 p.Met180Ile Uncertain significance Single submitter
- SLC10A2 p.Met79Lys Uncertain significance Single submitter
- SLC10A2 p.Phe304Cys Uncertain significance Single submitter
- SLC10A2 p.Phe76Ser Uncertain significance Single submitter
- SLC10A2 p.Pro224Thr Uncertain significance Single submitter
- SLC10A2 p.Pro234His Uncertain significance Single submitter
- SLC10A2 p.Pro280Ser Uncertain significance Single submitter
- SLC10A2 p.Pro290Arg Uncertain significance Single submitter
- SLC10A2 p.Pro323Leu Uncertain significance Single submitter
- SLC10A2 p.Pro323Ser Uncertain significance Single submitter
- SLC10A2 p.Pro345Leu Uncertain significance Single submitter
- SLC10A2 p.Pro4Leu Uncertain significance Single submitter
- SLC10A2 p.Pro65Ser Uncertain significance Single submitter
- SLC10A2 p.Ser126Asn Uncertain significance Single submitter
- SLC10A2 p.Ser168Tyr Uncertain significance Single submitter
- SLC10A2 p.Ser171Tyr Uncertain significance Single submitter
- SLC10A2 p.Ser294Gly Uncertain significance Single submitter
- SLC10A2 p.Ser335Leu Uncertain significance Single submitter
- SLC10A2 p.Ser6Arg Uncertain significance Single submitter
- SLC10A2 p.Ser6Asn Uncertain significance Single submitter
- SLC10A2 p.Ser87Trp Uncertain significance Single submitter
- SLC10A2 p.Thr131Ile Uncertain significance Single submitter
- SLC10A2 p.Thr257Met Uncertain significance Single submitter
- SLC10A2 p.Thr262Lys Uncertain significance Single submitter
- SLC10A2 p.Thr262Pro Uncertain significance Single submitter
- SLC10A2 p.Thr267Arg Uncertain significance Single submitter
- SLC10A2 p.Thr288Ala Uncertain significance Single submitter
- SLC10A2 p.Thr288Ile Uncertain significance Single submitter
- SLC10A2 p.Thr39Ala Uncertain significance Single submitter
- SLC10A2 p.Trp152Arg Uncertain significance Single submitter
- SLC10A2 p.Tyr117Ser Uncertain significance Single submitter
- SLC10A2 p.Tyr238Cys Uncertain significance Single submitter
- SLC10A2 p.Tyr253His Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- SLC10A2 p.Arg64Trp Benign/Likely benign Multiple submitters
-
SLC10A2 p.Cys144Tyr
Uncertain significance
Multiple submitters
bile acid malabsorption, primary, 1
- SLC10A2 p.Gly342Arg Uncertain significance Multiple submitters
- SLC10A2 p.Ile203Met Uncertain significance Multiple submitters
- SLC10A2 p.Leu101Phe Uncertain significance Multiple submitters
- SLC10A2 p.Leu81Phe Uncertain significance Multiple submitters
- SLC10A2 p.Phe242Ile Uncertain significance Multiple submitters
- SLC10A2 p.Trp252Cys Uncertain significance Multiple submitters
- SLC10A2 p.Tyr311Cys Uncertain significance Multiple submitters
-
SLC10A2 p.Val53Met
Uncertain significance
Multiple submitters
SLC10A2-related disorder
- SLC10A2 p.Ala190Thr Uncertain significance Single submitter
- SLC10A2 p.Ala301Pro Uncertain significance Single submitter
- SLC10A2 p.Ala302Pro Uncertain significance Single submitter
- SLC10A2 p.Ala89Pro Uncertain significance Single submitter
- SLC10A2 p.Asn340Lys Uncertain significance Single submitter
- SLC10A2 p.Asp124Glu Uncertain significance Single submitter
- SLC10A2 p.Cys144Phe Uncertain significance Single submitter
- SLC10A2 p.Cys19Tyr Uncertain significance Single submitter
- SLC10A2 p.Cys270Ser Uncertain significance Single submitter
- SLC10A2 p.Cys7Phe Uncertain significance Single submitter
- SLC10A2 p.Gln275His Uncertain significance Single submitter
- SLC10A2 p.Gln297His Uncertain significance Single submitter
- SLC10A2 p.Gln96His Uncertain significance Single submitter
- SLC10A2 p.Gly306Glu Uncertain significance Single submitter
- SLC10A2 p.His61Tyr Uncertain significance Single submitter
- SLC10A2 p.Ile273Thr Uncertain significance Single submitter
- SLC10A2 p.Ile78Thr Uncertain significance Single submitter
- SLC10A2 p.Leu298Pro Uncertain significance Single submitter
- SLC10A2 p.Phe233Leu Uncertain significance Single submitter
- SLC10A2 p.Phe289Tyr Uncertain significance Single submitter
- SLC10A2 p.Phe296Leu Likely benign Single submitter
- SLC10A2 p.Phe300Leu Uncertain significance Single submitter
- SLC10A2 p.Phe47Ile Uncertain significance Single submitter
- SLC10A2 p.Phe90Ser Conflicting Single submitter
- SLC10A2 p.Pro290Thr Uncertain significance Single submitter
- SLC10A2 p.Ser18Cys Uncertain significance Single submitter
- SLC10A2 p.Ser294Arg Uncertain significance Single submitter
- SLC10A2 p.Thr272Asn Uncertain significance Single submitter
- SLC10A2 p.Thr272Ile Uncertain significance Single submitter
- SLC10A2 p.Thr36Met Uncertain significance Single submitter
- SLC10A2 p.Thr82Lys Uncertain significance Single submitter
- SLC10A2 p.Tyr162Cys Uncertain significance Single submitter
-
SLC10A2 p.Ser155Cys
Uncertain significance
No assertion criteria
SLC10A2-related disorder
All SLC10A2 variants
Pathogenic 1
- c.584_585+1inv No assertion criteria bile acid malabsorption, primary, 1
Likely pathogenic 2
- c.378-1G>A Single submitter SLC10A2-related disorder
- p.Val99_Val100insTer Single submitter bile acid malabsorption, primary, 1
Conflicting classifications of pathogenicity 23
- c.497-13_497-4del Single submitter
- c.762-3T>C Single submitter
- p.Ala219Thr Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asp346= Single submitter
- p.Cys106Ter Single submitter bile acid malabsorption, primary, 1
- p.Glu282= Single submitter
- p.Gly139Arg Single submitter bile acid malabsorption, primary, 1 ⚠
- p.Leu44Phe Single submitter bile acid malabsorption, primary, 1 ⚠
- p.Leu59= Single submitter
- p.Phe304Leu Single submitter bile acid malabsorption, primary, 1 ⚠
- p.Phe90Ser Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro187= Single submitter
- p.Pro22= Single submitter
- p.Pro251= Single submitter
- p.Pro65Leu Single submitter ⚠
- p.Ser15= Single submitter
- p.Ser218= Single submitter
- p.Thr262Met Single submitter bile acid malabsorption, primary, 1 ⚠
- p.Thr82= Single submitter
- p.Trp186fs Single submitter bile acid malabsorption, primary, 1
- p.Val13= Single submitter
Benign 12
- c.377+12T>C Multiple submitters
- c.761+28A>G Multiple submitters bile acid malabsorption, primary, 1
- c.920-20G>A Multiple submitters bile acid malabsorption, primary, 1
- p.Ala43= Multiple submitters
- p.Leu169= Multiple submitters
- p.Ser171Ala Multiple submitters
- p.Val159Ile Multiple submitters
- c.378-12A>G Single submitter
- c.586-4del Single submitter
- c.-17C>G Single submitter
- c.-23C>G Single submitter
- p.Ser171= Single submitter
Benign/Likely benign 6
- c.586-4dup Multiple submitters
- p.Arg64Trp Multiple submitters ⚠
- p.Asn52= Multiple submitters
- p.Leu172= Multiple submitters
- p.Pro290Ser Multiple submitters
- p.Val98Ile Multiple submitters
Likely benign 99
- p.Gly60= Multiple submitters
- p.Ile199= Multiple submitters
- p.Leu226= Multiple submitters
- p.Pro142= Multiple submitters
- p.Pro65= Multiple submitters
- p.Thr330= Multiple submitters
- c.377+10T>G Single submitter
- c.377+15A>T Single submitter
- c.377+20T>C Single submitter
- c.378-13C>T Single submitter
- c.378-7C>T Single submitter
- c.496+10C>T Single submitter
- c.496+16G>A Single submitter
- c.496+16G>C Single submitter
- c.496+20G>A Single submitter
- c.497-11G>A Single submitter
- c.497-12T>C Single submitter
- c.497-17C>A Single submitter
- c.497-18C>T Single submitter
- c.497-4T>C Single submitter
- c.585+12A>C Single submitter
- c.585+18C>A Single submitter
- c.585+19A>G Single submitter
- c.585+20C>A Single submitter
- c.586-12T>C Single submitter
- c.586-16T>C Single submitter
- c.586-4T>A Single submitter
- c.586-8T>C Single submitter
- c.761+11T>A Single submitter
- c.761+20A>G Single submitter
- c.762-10del Single submitter
- c.762-10T>C Single submitter
- c.762-13A>C Single submitter
- c.762-14A>G Single submitter
- c.920-20G>T Single submitter
- c.920-23_920-20del Single submitter
- c.920-9_920-7del Single submitter
- c.920-9G>T Single submitter
- p.Ala111= Single submitter
- p.Ala200= Single submitter
- p.Ala301= Single submitter
- p.Arg256= Single submitter
- p.Asn340= Single submitter
- p.Asp154Glu Single submitter
- p.Cys105= Single submitter
- p.Cys270= Single submitter
- p.Cys314= Single submitter
- p.Gly121= Single submitter
- p.Gly201= Single submitter
- p.Gly341= Single submitter
- p.Gly71= Single submitter
- p.Ile158= Single submitter
- p.Ile273= Single submitter
- p.Ile29= Single submitter
- p.Ile29Thr Single submitter
- p.Ile40= Single submitter
- p.Ile68= Single submitter
- p.Leu101= Single submitter
- p.Leu125= Single submitter
- p.Leu143= Single submitter
- p.Leu269= Single submitter
- p.Leu298= Single submitter
- p.Leu42= Single submitter
- p.Leu86= Single submitter
- p.Lys338= Single submitter
- p.Lys348= Single submitter
- p.Phe296Leu Single submitter ⚠
- p.Pro290= Single submitter
- p.Pro345= Single submitter
- p.Pro4= Single submitter
- p.Pro80= Single submitter
- p.Pro94= Single submitter
- p.Ser239= Single submitter
- p.Ser271= Single submitter
- p.Ser277= Single submitter
- p.Ser334= Single submitter
- p.Ser335= Single submitter
- p.Ser87= Single submitter
- p.Thr130= Single submitter
- p.Thr149= Single submitter
- p.Thr257= Single submitter
- p.Thr262= Single submitter
- p.Thr267= Single submitter
- p.Thr36= Single submitter
- p.Tyr148= Single submitter
- p.Tyr253= Single submitter
- p.Tyr337= Single submitter
- p.Val119= Single submitter
- p.Val153= Single submitter
- p.Val206= Single submitter
- p.Val21= Single submitter
- p.Val285= Single submitter
- p.Val8= Single submitter
- c.586-3dup No assertion criteria SLC10A2-related disorder
- c.*4dup No assertion criteria SLC10A2-related disorder
- p.Glu54= No assertion criteria SLC10A2-related disorder
- p.Gly166= No assertion criteria SLC10A2-related disorder
- p.Leu41= No assertion criteria SLC10A2-related disorder
- p.Pro161= No assertion criteria SLC10A2-related disorder
Uncertain significance 265
- p.Ala111Val Multiple submitters SLC10A2-related disorder ⚠
- p.Ala116Val Multiple submitters bile acid malabsorption, primary, 1 ⚠
- p.Ala202Ser Multiple submitters ⚠
- p.Ala202Thr Multiple submitters ⚠
- p.Ala302Thr Multiple submitters ⚠
- p.Ala43Val Multiple submitters
- p.Arg246Thr Multiple submitters SLC10A2-related disorder
- p.Arg256Gln Multiple submitters ⚠
- p.Arg256Ter Multiple submitters bile acid malabsorption, primary, 1
- p.Asn25Ile Multiple submitters ⚠
- p.Asp122Asn Multiple submitters ⚠
- p.Asp124His Multiple submitters SLC10A2-related disorder ⚠
- p.Asp154Asn Multiple submitters ⚠
- p.Cys105Arg Multiple submitters bile acid malabsorption, primary, 1 ⚠
- p.Cys144Tyr Multiple submitters bile acid malabsorption, primary, 1 ⚠
- p.Gly108Arg Multiple submitters ⚠
- p.Gly201Val Multiple submitters ⚠
- p.Gly241Trp Multiple submitters ⚠
- p.Gly342Arg Multiple submitters ⚠
- p.Gly60Glu Multiple submitters ⚠
- p.Gly77Glu Multiple submitters bile acid malabsorption, primary, 1 ⚠
- p.Ile203Met Multiple submitters ⚠
- p.Ile40Val Multiple submitters ⚠
- p.Ile62Val Multiple submitters ⚠
- p.Leu101His Multiple submitters ⚠
- p.Leu101Phe Multiple submitters ⚠
- p.Leu135Met Multiple submitters ⚠
- p.Leu172Pro Multiple submitters ⚠
- p.Leu194fs Multiple submitters
- p.Leu204Phe Multiple submitters
- p.Leu244Met Multiple submitters ⚠
- p.Leu73Phe Multiple submitters ⚠
- p.Leu81Phe Multiple submitters ⚠
- p.Met1Ile Multiple submitters
- p.Met264Val Multiple submitters ⚠
- p.Phe242Ile Multiple submitters ⚠
- p.Pro161Arg Multiple submitters ⚠
- p.Pro187Leu Multiple submitters
- p.Pro251Leu Multiple submitters bile acid malabsorption, primary, 1
- p.Pro280Ala Multiple submitters ⚠
- p.Pro290Leu Multiple submitters ⚠
- p.Pro80His Multiple submitters ⚠
- p.Pro94Leu Multiple submitters ⚠
- p.Ser133Cys Multiple submitters bile acid malabsorption, primary, 1 ⚠
- p.Ser133Phe Multiple submitters ⚠
- p.Ser15Pro Multiple submitters ⚠
- p.Ser18Phe Multiple submitters ⚠
- p.Ser277Pro Multiple submitters ⚠
- p.Ser87Leu Multiple submitters ⚠
- p.Ter349Gln Multiple submitters
- p.Thr130Ile Multiple submitters bile acid malabsorption, primary, 1 ⚠
- p.Thr130Ser Multiple submitters ⚠
- p.Thr167Ile Multiple submitters ⚠
- p.Thr267Met Multiple submitters ⚠
- p.Thr279Ser Multiple submitters ⚠
- p.Thr288Ser Multiple submitters ⚠
- p.Thr330Met Multiple submitters ⚠
- p.Thr39Asn Multiple submitters
- p.Trp186Ter Multiple submitters SLC10A2-related disorder
- p.Trp252Cys Multiple submitters ⚠
- p.Tyr253Ter Multiple submitters
- p.Tyr311Cys Multiple submitters ⚠
- p.Val100Ala Multiple submitters ⚠
- p.Val127Ile Multiple submitters ⚠
- p.Val211Ala Multiple submitters ⚠
- p.Val286Ile Multiple submitters ⚠
- p.Val45Met Multiple submitters ⚠
- p.Val53Met Multiple submitters SLC10A2-related disorder ⚠
- c.378-3C>A Single submitter
- c.378-4T>C Single submitter
- c.496+1G>A Single submitter
- c.496+3A>G Single submitter
- c.497-1G>A Single submitter
- c.585+1G>A Single submitter
- c.585+4_585+7del Single submitter
- c.585+4A>G Single submitter
- c.585+4A>T Single submitter
- c.586-1G>A Single submitter
- c.586-2A>G Single submitter
- c.761+1G>T Single submitter
- c.761+2T>G Single submitter
- c.761+4T>A Single submitter
- c.761+6G>T Single submitter
- c.762-13A>G Single submitter
- c.920-1G>A Single submitter
- c.920-2A>G Single submitter
- c.920-3T>C Single submitter
- c.-3_-2delinsAA Single submitter
- p.Ala111Ser Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala190Thr Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala200Val Single submitter ⚠
- p.Ala219Ser Single submitter ⚠
- p.Ala236Thr Single submitter ⚠
- p.Ala236Val Single submitter ⚠
- p.Ala301Pro Single submitter ⚠
- p.Ala302Pro Single submitter ⚠
- p.Ala339Thr Single submitter ⚠
- p.Ala89Pro Single submitter ⚠
- p.Arg246Gly Single submitter
- p.Arg246Lys Single submitter ⚠
- p.Arg64Gln Single submitter ⚠
- p.Asn183His Single submitter ⚠
- p.Asn25Ser Single submitter ⚠
- p.Asn27Asp Single submitter ⚠
- p.Asn28Ser Single submitter ⚠
- p.Asn328Asp Single submitter ⚠
- p.Asn328Ser Single submitter ⚠
- p.Asn340Lys Single submitter ⚠
- p.Asp120Asn Single submitter ⚠
- p.Asp124Glu Single submitter ⚠
- p.Asp3Glu Single submitter ⚠
- p.Asp9His Single submitter ⚠
- p.Cys105Phe Single submitter ⚠
- p.Cys106Arg Single submitter ⚠
- p.Cys132Phe Single submitter ⚠
- p.Cys144Phe Single submitter ⚠
- p.Cys19Tyr Single submitter ⚠
- p.Cys270Ser Single submitter ⚠
- p.Cys51Ter Single submitter
- p.Cys74Tyr Single submitter ⚠
- p.Cys7Phe Single submitter ⚠
- p.Gln188fs Single submitter
- p.Gln217Glu Single submitter ⚠
- p.Gln217Ter Single submitter
- p.Gln268Glu Single submitter
- p.Gln275His Single submitter ⚠
- p.Gln297His Single submitter ⚠
- p.Gln297Leu Single submitter ⚠
- p.Gln96His Single submitter ⚠
- p.Glu261Gly Single submitter ⚠
- p.Glu324Val Single submitter ⚠
- p.Glu327Lys Single submitter ⚠
- p.Glu333fs Single submitter
- p.Glu347Lys Single submitter ⚠
- p.Gly139Glu Single submitter ⚠
- p.Gly166Val Single submitter ⚠
- p.Gly179Val Single submitter ⚠
- p.Gly249Asp Single submitter
- p.Gly249Val Single submitter
- p.Gly263Arg Single submitter ⚠
- p.Gly306Glu Single submitter ⚠
- p.Gly67Asp Single submitter ⚠
- p.Gly71Ser Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.His61Tyr Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile114Val Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile160Val Single submitter ⚠
- p.Ile165= Single submitter
- p.Ile165Thr Single submitter ⚠
- p.Ile178Thr Single submitter ⚠
- p.Ile178Val Single submitter ⚠
- p.Ile192Met Single submitter ⚠
- p.Ile193Met Single submitter ⚠
- p.Ile205Met Single submitter ⚠
- p.Ile214Val Single submitter ⚠
- p.Ile222Leu Single submitter ⚠
- p.Ile222Phe Single submitter ⚠
- p.Ile232Thr Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile273Thr Single submitter ⚠
- p.Ile303Val Single submitter ⚠
- p.Ile55Met Single submitter ⚠
- p.Ile62Arg Single submitter ⚠
- p.Ile62Leu Single submitter ⚠
- p.Ile68_Cys69insIleLysLysPheLeuGlyHisIleLysArgProTrpGlyIle Single submitter
- p.Ile78Thr Single submitter ⚠
- p.Leu138Arg Single submitter ⚠
- p.Leu138Phe Single submitter ⚠
- p.Leu194Ile Single submitter ⚠
- p.Leu207Arg Single submitter SLC10A2-related disorder ⚠
- p.Leu207Phe Single submitter ⚠
- p.Leu226Gln Single submitter ⚠
- p.Leu243Pro Single submitter ⚠
- p.Leu244Pro Single submitter ⚠
- p.Leu298Pro Single submitter ⚠
- p.Leu298Val Single submitter ⚠
- p.Leu93Phe Single submitter ⚠
- p.Leu93Val Single submitter ⚠
- p.Lys185Ile Single submitter ⚠
- p.Lys57Glu Single submitter ⚠
- p.Met129Val Single submitter ⚠
- p.Met141Lys Single submitter ⚠
- p.Met180Ile Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met46Val Single submitter
- p.Met49fs Single submitter
- p.Met79Lys Single submitter ⚠
- p.Phe233Leu Single submitter ⚠
- p.Phe289Tyr Single submitter ⚠
- p.Phe300Leu Single submitter ⚠
- p.Phe304Cys Single submitter ⚠
- p.Phe47Ile Single submitter ⚠
- p.Phe76Ser Single submitter ⚠
- p.Pro187Ala Single submitter
- p.Pro187Ser Single submitter
- p.Pro224Thr Single submitter ⚠
- p.Pro234His Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Pro290Arg Single submitter ⚠
- p.Pro290Thr Single submitter ⚠
- p.Pro323Leu Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro345Leu Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Pro65Ser Single submitter ⚠
- p.Pro94fs Single submitter
- p.Ser126= Single submitter
- p.Ser126Asn Single submitter ⚠
- p.Ser168Tyr Single submitter ⚠
- p.Ser171Asp Single submitter
- p.Ser171Tyr Single submitter ⚠
- p.Ser18Cys Single submitter ⚠
- p.Ser294Arg Single submitter ⚠
- p.Ser294Gly Single submitter ⚠
- p.Ser335Leu Single submitter ⚠
- p.Ser335Ter Single submitter
- p.Ser6Arg Single submitter ⚠
- p.Ser6Asn Single submitter ⚠
- p.Ser87Ter Single submitter
- p.Ser87Trp Single submitter ⚠
- p.Ter349Tyr Single submitter
- p.Thr131Ile Single submitter ⚠
- p.Thr257Met Single submitter ⚠
- p.Thr262Lys Single submitter ⚠
- p.Thr262Pro Single submitter ⚠
- p.Thr267Arg Single submitter ⚠
- p.Thr272Asn Single submitter ⚠
- p.Thr272Ile Single submitter ⚠
- p.Thr279fs Single submitter
- p.Thr288Ala Single submitter ⚠
- p.Thr288Ile Single submitter ⚠
- p.Thr36Met Single submitter ⚠
- p.Thr39Ala Single submitter ⚠
- p.Thr39Ile Single submitter
- p.Thr82Lys Single submitter ⚠
- p.Trp152Arg Single submitter ⚠
- p.Trp220Ter Single submitter
- p.Trp66Ter Single submitter
- p.Tyr117Ser Single submitter ⚠
- p.Tyr148Ter Single submitter
- p.Tyr162Cys Single submitter ⚠
- p.Tyr238Cys Single submitter ⚠
- p.Tyr253His Single submitter ⚠
- p.Tyr308Asn Single submitter ⚠
- p.Val100Gly Single submitter ⚠
- p.Val153Phe Single submitter ⚠
- p.Val159Ala Single submitter ⚠
- p.Val170Ile Single submitter ⚠
- p.Val173Ile Single submitter ⚠
- p.Val176Ile Single submitter ⚠
- p.Val182Ile Single submitter ⚠
- p.Val182Leu Single submitter ⚠
- p.Val235Met Single submitter ⚠
- p.Val309Leu Single submitter ⚠
- p.Val8Met Single submitter ⚠
- p.Val99Gly Single submitter ⚠
- c.919+316G>C No assertion criteria SLC10A2-related disorder
- p.Gly104Ter No assertion criteria SLC10A2-related disorder
- p.Ile103fs No assertion criteria SLC10A2-related disorder
- p.Ser155Cys No assertion criteria SLC10A2-related disorder ⚠
- p.Val211Ile No assertion criteria SLC10A2-related disorder ⚠