SLCO1B1 — 221 ClinVar variants
All ClinVar germline SLCO1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
2 Pathogenic · 5 Likely pathogenic · 4 Conflicting · 51 Benign · 6 Benign/Likely benign · 39 Likely benign · 114 Uncertain significance
Full SLCO1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLCO1B1 p.Ile222Val
Conflicting
Single submitter
Rotor syndrome
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.
-
SLCO1B1 p.Arg152Thr
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B1 p.Arg253Gln
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B1 p.Arg57Gln
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B1 p.Asp666Glu
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B1 p.Ile479Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SLCO1B1 p.Phe427Cys
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B1 p.Ser492Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
SLCO1B1 p.Ser622Leu
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B1 p.Thr345Met
Uncertain significance
Multiple submitters
Rotor syndrome
- SLCO1B1 p.Ala112Thr Uncertain significance Single submitter
-
SLCO1B1 p.Ala11Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ala11Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Arg22Ser
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Arg22Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Arg580Gln
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Asn128His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Asn151Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Asn302Tyr
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Asn460Ser
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Asn4Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Asn657Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Cys162Tyr
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Cys430Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Cys485Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Cys489Ser
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Cys530Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gln281Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gln348Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gln3Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gln541Leu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Glu165Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Glu165Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Glu165Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Glu17Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Glu566Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Glu660Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gly105Val
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Gly266Val
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Gly437Arg
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Gly444Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gly478Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gly488Ser
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Gly522Arg
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Gly611Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Gly88Glu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.His678Tyr
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Ile106Thr
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Ile218Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ile270Leu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Ile385Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ile562Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ile75Met
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Leu344Phe
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Leu43Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Lys125Glu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Lys201Glu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Lys232Thr
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Met104Lys
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Met577Leu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Phe116Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Pro472Leu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Ser166Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ser37Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ser51Phe
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Ser618Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ser62Pro
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Thr225Ile
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Thr282Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
- SLCO1B1 p.Thr357Ala Uncertain significance Single submitter
-
SLCO1B1 p.Thr441Asn
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Thr531Arg
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Trp602Leu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Tyr195Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Val339Leu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Val405Ile
Uncertain significance
Single submitter
Rotor syndrome
Predictors split 8
The independent predictors disagree with each other — read with care.
-
SLCO1B1 p.Arg610His
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Asn213Lys
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B1 p.Gln369Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Ile221Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Met417Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Phe224Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Phe537Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
SLCO1B1 p.Thr42Pro
Uncertain significance
Single submitter
Rotor syndrome
All SLCO1B1 variants
Pathogenic 2
- p.Arg253Ter Multiple submitters SLCO1B1-related disorder
- p.Arg580Ter Multiple submitters SLCO1B1-related disorder
Likely pathogenic 5
- c.226+1G>A Multiple submitters Rotor syndrome
- c.1497+2T>A Single submitter Rotor syndrome
- c.1865+1G>A Single submitter Rotor syndrome
- p.Leu545Ter Single submitter Rotor syndrome
- p.Tyr338fs Single submitter Rotor syndrome
Conflicting classifications of pathogenicity 4
- c.1331+9A>G Single submitter Rotor syndrome
- c.1332-14T>C Single submitter Rotor syndrome
- c.1498-15T>C Single submitter Rotor syndrome
- p.Ile222Val Single submitter Rotor syndrome ⚠
Benign 51
- c.1135+42A>C Multiple submitters
- c.1135+66G>A Multiple submitters
- c.1498-68G>A Multiple submitters
- c.1498-89T>C Multiple submitters
- c.1683-171G>C Multiple submitters
- c.1683-173T>A Multiple submitters
- c.1748-97G>C Multiple submitters
- c.1866-95T>C Multiple submitters
- c.226+89T>G Multiple submitters
- c.359+23dup Multiple submitters
- c.359+97C>A Multiple submitters
- c.727+33C>T Multiple submitters Rotor syndrome
- c.*167T>C Multiple submitters Rotor syndrome
- c.*46T>G Multiple submitters Rotor syndrome
- p.Asn130Asp Multiple submitters Rotor syndrome
- p.Leu191= Multiple submitters Rotor syndrome
- p.Leu294= Multiple submitters Rotor syndrome
- p.Leu643Phe Multiple submitters Rotor syndrome
- p.Phe199= Multiple submitters Rotor syndrome
- p.Pro155Thr Multiple submitters Rotor syndrome
- p.Pro484= Multiple submitters Rotor syndrome
- p.Ser137= Multiple submitters Rotor syndrome
- p.Tyr362= Multiple submitters Rotor syndrome
- p.Val416= Multiple submitters Rotor syndrome
- c.1135+266A>G Single submitter
- c.1135+305C>G Single submitter
- c.1332-19G>C Single submitter Rotor syndrome
- c.1498-170C>G Single submitter
- c.1748-159C>A Single submitter
- c.226+224A>G Single submitter
- c.360-286T>C Single submitter
- c.360-320C>T Single submitter
- c.481+160C>T Single submitter
- c.481+165A>T Single submitter
- c.481+189G>A Single submitter
- c.481+191G>A Single submitter
- c.482-112_482-107del Single submitter
- c.482-11T>C Single submitter Rotor syndrome
- c.482-331G>A Single submitter
- c.728-17_728-14del Single submitter Rotor syndrome
- c.84+193G>A Single submitter
- c.85-237G>A Single submitter
- c.-61-155T>G Single submitter
- c.-61-217_-61-214del Single submitter
- c.*121G>C Single submitter Rotor syndrome
- c.*40C>G Single submitter Rotor syndrome
- c.*439T>G Single submitter Rotor syndrome
- c.*449A>C Single submitter Rotor syndrome
- c.*463A>G Single submitter Rotor syndrome
- p.Asn151Ser Single submitter Rotor syndrome
- p.Pro336Arg Single submitter Rotor syndrome
Benign/Likely benign 6
- c.1498-12A>G Multiple submitters Rotor syndrome
- c.1747+9A>G Multiple submitters Rotor syndrome
- c.359+10[16] Multiple submitters
- p.Ile245Val Multiple submitters Rotor syndrome
- p.Ile499Val Multiple submitters Rotor syndrome
- p.Phe400Leu Multiple submitters Rotor syndrome
Likely benign 39
- p.Asp70= Multiple submitters Rotor syndrome
- p.Gly488Ala Multiple submitters Rotor syndrome
- p.Ile211Met Multiple submitters Rotor syndrome
- p.Thr598= Multiple submitters Rotor syndrome
- c.1498-7G>A Single submitter Rotor syndrome
- c.1747+17A>G Single submitter
- c.1747+22_1747+34del Single submitter
- c.1747+23_1747+34dup Single submitter
- c.1747+27_1747+34del Single submitter
- c.1747+27_1747+34dup Single submitter
- c.1747+28_1747+34dup Single submitter
- c.1747+29_1747+34del Single submitter
- c.1747+29_1747+34dup Single submitter
- c.1747+30_1747+34del Single submitter
- c.1747+30_1747+34dup Single submitter
- c.1747+31_1747+34dup Single submitter
- c.1747+32_1747+34del Single submitter
- c.1747+32_1747+34dup Single submitter
- c.1747+34dup Single submitter
- c.1747+8_1747+9insGAAAA Single submitter
- c.1747+8_1747+9insGAAAAA Single submitter
- c.1747+8_1747+9insGAAAAAAA Single submitter
- c.359+23del Single submitter
- c.-3A>G Single submitter Rotor syndrome
- c.*134A>T Single submitter Rotor syndrome
- c.*328A>G Single submitter Rotor syndrome
- c.*575G>A Single submitter Rotor syndrome
- p.Gln564= Single submitter Rotor syndrome
- p.Glu364= Single submitter Cardiovascular phenotype
- p.Gly219= Single submitter
- p.Gly611= Single submitter
- p.Leu27= Single submitter Rotor syndrome
- p.Pro220= Single submitter Rotor syndrome
- p.Pro370Ser Single submitter Cardiovascular phenotype
- p.Thr382= Single submitter
- p.Thr604= Single submitter Rotor syndrome
- p.Tyr367= Single submitter
- c.1866-10A>G No assertion criteria SLCO1B1-related disorder
- p.Ala436= No assertion criteria SLCO1B1-related disorder
Uncertain significance 114
- p.Arg152Thr Multiple submitters Rotor syndrome ⚠
- p.Arg253Gln Multiple submitters Rotor syndrome ⚠
- p.Arg57Gln Multiple submitters Rotor syndrome ⚠
- p.Asp666Glu Multiple submitters Rotor syndrome ⚠
- p.Ile479Val Multiple submitters Cardiovascular phenotype ⚠
- p.Phe427Cys Multiple submitters Rotor syndrome ⚠
- p.Ser492Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ser622Leu Multiple submitters Rotor syndrome ⚠
- p.Thr345Met Multiple submitters Rotor syndrome ⚠
- c.1135+14T>G Single submitter Rotor syndrome
- c.1498-8C>T Single submitter Rotor syndrome
- c.1747+2T>C Single submitter Rotor syndrome
- c.1866-2A>G Single submitter
- c.360-15G>A Single submitter Rotor syndrome
- c.481+1G>T Single submitter Rotor syndrome
- c.482-2A>C Single submitter
- c.629-1G>A Single submitter Rotor syndrome
- c.84+2T>G Single submitter Rotor syndrome
- c.-104A>G Single submitter Rotor syndrome
- c.-3A>C Single submitter Rotor syndrome
- c.-62+10A>G Single submitter Rotor syndrome
- c.*126T>C Single submitter Rotor syndrome
- c.*145T>C Single submitter Rotor syndrome
- c.*197T>C Single submitter Rotor syndrome
- c.*427G>T Single submitter Rotor syndrome
- c.*481T>C Single submitter Rotor syndrome
- p.Ala112Thr Single submitter ⚠
- p.Ala112Val Single submitter Rotor syndrome
- p.Ala11Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala11Val Single submitter Cardiovascular phenotype ⚠
- p.Ala487Ser Single submitter Rotor syndrome
- p.Arg22Ser Single submitter Rotor syndrome ⚠
- p.Arg22Thr Single submitter Cardiovascular phenotype ⚠
- p.Arg57Trp Single submitter Rotor syndrome
- p.Arg580Gln Single submitter Rotor syndrome ⚠
- p.Arg610His Single submitter Rotor syndrome ⚠
- p.Asn128His Single submitter Cardiovascular phenotype ⚠
- p.Asn151Lys Single submitter Cardiovascular phenotype ⚠
- p.Asn213Lys Single submitter Rotor syndrome ⚠
- p.Asn302Tyr Single submitter Rotor syndrome ⚠
- p.Asn460Ser Single submitter Rotor syndrome ⚠
- p.Asn4Ser Single submitter Cardiovascular phenotype ⚠
- p.Asn657Ser Single submitter Cardiovascular phenotype ⚠
- p.Asn661= Single submitter Rotor syndrome
- p.Asp655fs Single submitter Rotor syndrome
- p.Cys162Tyr Single submitter Rotor syndrome ⚠
- p.Cys430Phe Single submitter Cardiovascular phenotype ⚠
- p.Cys485Arg Single submitter Cardiovascular phenotype ⚠
- p.Cys489Ser Single submitter Rotor syndrome ⚠
- p.Cys530Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln281Glu Single submitter Cardiovascular phenotype ⚠
- p.Gln348Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln369Pro Single submitter Cardiovascular phenotype ⚠
- p.Gln3Lys Single submitter Cardiovascular phenotype ⚠
- p.Gln541Leu Single submitter Rotor syndrome ⚠
- p.Glu165Ala Single submitter Cardiovascular phenotype ⚠
- p.Glu165Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu165Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu17Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu566Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu660Gly Single submitter Cardiovascular phenotype ⚠
- p.Gly105Val Single submitter Rotor syndrome ⚠
- p.Gly266Val Single submitter Rotor syndrome ⚠
- p.Gly437Arg Single submitter Rotor syndrome ⚠
- p.Gly444Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly478Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly488Ser Single submitter Rotor syndrome ⚠
- p.Gly522Arg Single submitter Rotor syndrome ⚠
- p.Gly611Ala Single submitter Cardiovascular phenotype ⚠
- p.Gly88Glu Single submitter Rotor syndrome ⚠
- p.His678Tyr Single submitter Rotor syndrome ⚠
- p.Ile106Thr Single submitter Rotor syndrome ⚠
- p.Ile218Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile221Asn Single submitter Cardiovascular phenotype ⚠
- p.Ile270Leu Single submitter Rotor syndrome ⚠
- p.Ile385Val Single submitter Cardiovascular phenotype ⚠
- p.Ile562Val Single submitter Cardiovascular phenotype ⚠
- p.Ile642fs Single submitter Rotor syndrome
- p.Ile75Met Single submitter Rotor syndrome ⚠
- p.Leu344Phe Single submitter Rotor syndrome ⚠
- p.Leu43Ile Single submitter Cardiovascular phenotype ⚠
- p.Lys125Glu Single submitter Rotor syndrome ⚠
- p.Lys201Glu Single submitter Rotor syndrome ⚠
- p.Lys232Thr Single submitter Rotor syndrome ⚠
- p.Lys95fs Single submitter Rotor syndrome
- p.Met104Lys Single submitter Rotor syndrome ⚠
- p.Met417Arg Single submitter Cardiovascular phenotype ⚠
- p.Met577Leu Single submitter Rotor syndrome ⚠
- p.Phe116Leu Single submitter Cardiovascular phenotype ⚠
- p.Phe224Leu Single submitter Cardiovascular phenotype ⚠
- p.Phe262= Single submitter Rotor syndrome
- p.Phe537Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro286= Single submitter Rotor syndrome
- p.Pro472Leu Single submitter Rotor syndrome ⚠
- p.Ser166Pro Single submitter Cardiovascular phenotype ⚠
- p.Ser37Thr Single submitter Cardiovascular phenotype ⚠
- p.Ser51Phe Single submitter Rotor syndrome ⚠
- p.Ser618Tyr Single submitter Cardiovascular phenotype ⚠
- p.Ser62Pro Single submitter Rotor syndrome ⚠
- p.Ser636fs Single submitter Rotor syndrome
- p.Thr225Ile Single submitter Rotor syndrome ⚠
- p.Thr282Ile Single submitter Cardiovascular phenotype ⚠
- p.Thr357Ala Single submitter ⚠
- p.Thr42Pro Single submitter Rotor syndrome ⚠
- p.Thr441Asn Single submitter Rotor syndrome ⚠
- p.Thr531Arg Single submitter Rotor syndrome ⚠
- p.Trp602Leu Single submitter Rotor syndrome ⚠
- p.Tyr195Cys Single submitter Cardiovascular phenotype ⚠
- p.Tyr616Ter Single submitter Rotor syndrome
- p.Val235Met Single submitter Rotor syndrome
- p.Val339Leu Single submitter Rotor syndrome ⚠
- p.Val405Ile Single submitter Rotor syndrome ⚠
- p.Val680= Single submitter Rotor syndrome
- p.Val84Leu Single submitter Rotor syndrome