A total 157 pathogenic variants reported in gene ATP binding cassette subfamily G member 8 (ABCG8)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) SNV
Germline
Chr2:43872094 Pathogenic/Likely pathogenic Sitosterolemia
Condition: not provided
Sitosterolemia 1
ABCG8-related disorder
Cardiovascular phenotype
Sitosterolemia 1
Gallbladder disease 4
Criteria Provided
Multiple Submitters
No Conflicts
CA253359 rs_137852987

18 SubmittersRCV000005255RCV000255446RCV000993693RCV003407277RCV002426490RCV002504749

NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) SNV
Germline
Chr2:43875377 Pathogenic/Likely pathogenic Sitosterolemia
Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
Early-onset coronary artery disease
Criteria Provided
Multiple Submitters
No Conflicts
CA253361 rs_137852988

12 SubmittersRCV000005256RCV000726168RCV000993692RCV002408452RCV003407278RCV005406725

NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) SNV
Germline
Chr2:43877865 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
Sitosterolemia
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA253362 rs_137852989

9 SubmittersRCV000005257RCV000593346RCV005384639RCV004766981RCV004742213

NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) SNV
Germline
Chr2:43852692 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
ABCG8-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA253364 rs_137852990

6 SubmittersRCV000005258RCV000727975RCV003407279RCV004984635

NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) SNV
Germline
Chr2:43873809 Pathogenic/Likely pathogenic Sitosterolemia
Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA253366 rs_137852991

10 SubmittersRCV000005260RCV000993691RCV001699176RCV003298028RCV003952343

NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg) SNV
Germline
Chr2:43877591 Pathogenic Sitosterolemia 1 No Assertion Criteria Provided
CA253368 rs_137852992

1 SubmittersRCV000005261

NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr) SNV
Germline
Chr2:43852483 Pathogenic Sitosterolemia 1 No Assertion Criteria Provided
CA253369 rs_137852993

1 SubmittersRCV000005262

NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) SNV
Germline
Chr2:43846309 Pathogenic Sitosterolemia 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA343788 rs_137854891

3 SubmittersRCV000032718RCV001384588

NM_022437.3(ABCG8):c.687G>A (p.Trp229Ter) SNV
Germline
Chr2:43852479 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA46441382 rs_141909291

1 SubmittersRCV003039387

NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys) SNV
Germline
Chr2:43873788 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637367 rs_199553576

3 SubmittersRCV003576061RCV004369324RCV005631215

NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) SNV
Germline
Chr2:43872296 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia
Gallbladder disease 4
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA247798 rs_144200355

11 SubmittersRCV000180362RCV000764411RCV001137117RCV002345627RCV003937636RCV006456793

NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) SNV
Germline
Chr2:43875302 Conflicting classifications of pathogenicity Sitosterolemia 1
not specified
Condition: not provided
ABCG8-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637574 rs_140690030

7 SubmittersRCV000331475RCV000365326RCV001421565RCV003977731RCV004021079

NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) SNV
Germline
Chr2:43874431 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Sitosterolemia 1
Gallbladder disease 4
ABCG8-related disorder
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637453 rs_150890296

13 SubmittersRCV000301884RCV002392797RCV002502099RCV003401237RCV003137881

NM_022437.3(ABCG8):c.331A>C (p.Arg111=) SNV
Germline
Chr2:43851592 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1636987 rs_752358589

4 SubmittersRCV000292088RCV001137001RCV002321957

NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) SNV
Germline
Chr2:43872104 Conflicting classifications of pathogenicity Condition: not provided
ABCG8-related disorder
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637274 rs_114404835

7 SubmittersRCV000296238RCV003909985RCV005407017RCV004984777

NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) SNV
Germline
Chr2:43872105 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637275 rs_140778634

6 SubmittersRCV000303441RCV001143675RCV004767216RCV004984780

NM_022437.3(ABCG8):c.1756+6G>A SNV
Germline
Chr2:43875419 Conflicting classifications of pathogenicity Condition: not provided
ABCG8-related disorder
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637619 rs_375563605

4 SubmittersRCV000279671RCV003949895RCV003137896

NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) SNV
Germline
Chr2:43851752 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
not specified
Gallbladder disease 4
Sitosterolemia 1
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637032 rs_74358901

10 SubmittersRCV001514945RCV001139254RCV002348017RCV000395777RCV002494877RCV003930153

NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) SNV
Germline
Chr2:43877815 Conflicting classifications of pathogenicity Condition: not provided
ABCG8-related disorder
Sitosterolemia 1
Thrombocytopenia
Abnormal bleeding
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637726 rs_113005049

9 SubmittersRCV000395773RCV003897633RCV000340091RCV001270619RCV002411167

NM_022437.3(ABCG8):c.870C>T (p.Thr290=) SNV
Germline
Chr2:43852774 Conflicting classifications of pathogenicity Sitosterolemia 1
not specified
ABCG8-related disorder
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637187 rs_117221284

8 SubmittersRCV001143674RCV003330625RCV003967781RCV000345893RCV002374478

NM_022437.3(ABCG8):c.1941C>G (p.Val647=) SNV
Germline
Chr2:43877832 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Condition: not provided
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637728 rs_147991100

10 SubmittersRCV001699284RCV002411170RCV000342751RCV000403108

NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=) SNV
Germline
Chr2:43874411 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1637450 rs_144399404

5 SubmittersRCV000275812RCV002392810RCV003949929RCV004701392

NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val) SNV
Germline
Chr2:43872117 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637279 rs_148185316

5 SubmittersRCV000292147RCV000306353RCV002429236

NM_022437.3(ABCG8):c.729C>T (p.Leu243=) SNV
Germline
Chr2:43852633 Conflicting classifications of pathogenicity Condition: not provided
not specified
ABCG8-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637158 rs_145482605

5 SubmittersRCV000267860RCV003330630RCV003897658RCV002379156

NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) SNV
Germline
Chr2:43852616 Conflicting classifications of pathogenicity Sitosterolemia
Condition: not provided
Sitosterolemia 1
Sitosterolemia 1
Gallbladder disease 4
Cardiovascular phenotype
ABCG8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1637156 rs_34754243

13 SubmittersRCV000262892RCV000318546RCV001094726RCV002494900RCV002365329RCV003949962RCV006268717

NM_022437.3(ABCG8):c.342G>A (p.Leu114=) SNV
Germline
Chr2:43851603 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1636990 rs_150970273

6 SubmittersRCV000271754RCV000729735RCV002450907RCV003932335

NM_022437.3(ABCG8):c.611G>A (p.Arg204His) SNV
Germline
Chr2:43852403 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA1637088 rs_144730815

6 SubmittersRCV000358331RCV001247274RCV002356468RCV006263888

NM_022437.3(ABCG8):c.762C>T (p.Thr254=) SNV
Germline
Chr2:43852666 Conflicting classifications of pathogenicity Sitosterolemia 1
ABCG8-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637167 rs_148006993

3 SubmittersRCV000318126RCV003897767RCV002392898

NM_022437.3(ABCG8):c.1470T>C (p.Gly490=) SNV
Germline
Chr2:43874465 Conflicting classifications of pathogenicity Sitosterolemia 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1637467 rs_775837092

3 SubmittersRCV000360299RCV002392899RCV006445860

NM_022437.3(ABCG8):c.1569A>G (p.Pro523=) SNV
Germline
Chr2:43875226 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637547 rs_575386215

4 SubmittersRCV000262266RCV002057699RCV002402062RCV004742389

NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) SNV
Germline
Chr2:43877589 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637665 rs_139677898

10 SubmittersRCV000384329RCV000592118RCV001729552RCV003372689

NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) SNV
Germline
Chr2:43872265 Conflicting classifications of pathogenicity Sitosterolemia 1
not specified
Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637329 rs_139902223

8 SubmittersRCV000387716RCV000595758RCV002057697RCV002328861RCV003922456

NM_022437.3(ABCG8):c.1203G>A (p.Thr401=) SNV
Germline
Chr2:43872298 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10613863 rs_886056033

2 SubmittersRCV000344050RCV002057698

NM_022437.3(ABCG8):c.36G>A (p.Pro12=) SNV
Germline
Chr2:43839089 Conflicting classifications of pathogenicity Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1636856 rs_368998235

3 SubmittersRCV000375988RCV002348088RCV003897766

NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) SNV
Germline
Chr2:43872128 Conflicting classifications of pathogenicity Sitosterolemia 1
not specified
Cardiovascular phenotype
Condition: not provided
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637285 rs_554680915

7 SubmittersRCV000333238RCV000595016RCV002436203RCV002519974RCV003950162

NM_022437.3(ABCG8):c.642G>A (p.Ser214=) SNV
Germline
Chr2:43852434 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637102 rs_202198142

5 SubmittersRCV000317041RCV000597045RCV002365403RCV003972422

NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) SNV
Germline
Chr2:43875225 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA1637546 rs_558635043

7 SubmittersRCV000357070RCV001699467RCV002402061RCV005407068

NM_022437.3(ABCG8):c.576C>T (p.Ile192=) SNV
Germline
Chr2:43852368 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637076 rs_148058949

8 SubmittersRCV000596127RCV000907221RCV001139257RCV002358654RCV003945381

NM_022437.3(ABCG8):c.1411+8T>A SNV
Germline
Chr2:43873994 Conflicting classifications of pathogenicity Condition: not provided
Gallbladder disease 4
Sitosterolemia 1
not specified
Criteria Provided
Conflicting Classifications
CA1637422 rs_201991639

5 SubmittersRCV000596342RCV003227803RCV004701680

NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) SNV
Germline
Chr2:43877904 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA46474808 rs_373862876

3 SubmittersRCV000592534RCV002420568

NM_022437.3(ABCG8):c.351G>A (p.Val117=) SNV
Germline
Chr2:43851612 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1636992 rs_41281459

4 SubmittersRCV000594804RCV002456299RCV003952956

NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) SNV
Germline
Chr2:43873860 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
not specified
ABCG8-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637390 rs_147194762

8 SubmittersRCV000596406RCV001137121RCV003330815RCV003952976RCV004984998

NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) SNV
Germline
Chr2:43875265 Pathogenic/Likely pathogenic Condition: not provided
Sitosterolemia 1
ABCG8-related disorder
Sitosterolemia
Criteria Provided
Multiple Submitters
No Conflicts
CA46471077 rs_544500542

6 SubmittersRCV000594048RCV002280880RCV003420036RCV005357786

NM_022437.3(ABCG8):c.64-2A>G SNV
Germline
Chr2:43844505 Pathogenic Condition: not provided
ABCG8-related disorder
Sitosterolemia 1
Criteria Provided
Multiple Submitters
No Conflicts
CA46432451 rs_934115584

4 SubmittersRCV000595922RCV004742522RCV005630765

NM_022437.3(ABCG8):c.1059G>C (p.Val353=) SNV
Germline
Chr2:43872070 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637264 rs_751866338

3 SubmittersRCV000596816RCV002404607

NM_022437.3(ABCG8):c.1522A>G (p.Ile508Val) SNV
Germline
Chr2:43875179 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA346670265 rs_1553383983

2 SubmittersRCV000593053RCV005712211

NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) SNV
Germline
Chr2:43872255 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia
Gallbladder disease 4
Cardiovascular phenotype
Sitosterolemia 1
ABCG8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1637324 rs_150654176

11 SubmittersRCV000596299RCV000764410RCV002358659RCV003139895RCV003905542RCV004767430

NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) SNV
Germline
Chr2:43844563 Pathogenic Condition: not provided
Sitosterolemia 1
Criteria Provided
Multiple Submitters
No Conflicts
CA346663238 rs_1000291485

2 SubmittersRCV000594922RCV001783098

NM_022437.3(ABCG8):c.1789C>A (p.Arg597=) SNV
Germline
Chr2:43877593 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA46474130 rs_776778929

3 SubmittersRCV000593809RCV004985003

NM_022437.3(ABCG8):c.450C>T (p.His150=) SNV
Germline
Chr2:43851711 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637020 rs_200013237

4 SubmittersRCV000594132RCV002341529RCV003952987

NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) SNV
Germline
Chr2:43875307 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
not specified
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637580 rs_145754381

5 SubmittersRCV000591149RCV002395533RCV003330819RCV004742530

NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) SNV
Germline
Chr2:43875305 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637577 rs_149441561

7 SubmittersRCV000593013RCV003139898RCV003323628RCV004024818

NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) SNV
Germline
Chr2:43872136 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637286 rs_371968769

4 SubmittersRCV000596016RCV002438543RCV003900346

NM_022437.3(ABCG8):c.1885-7T>C SNV
Germline
Chr2:43877769 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA658795715 rs_1485558944

2 SubmittersRCV000594504

NM_022437.3(ABCG8):c.15G>A (p.Ala5=) SNV
Germline
Chr2:43839068 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA46426870 rs_200951677

3 SubmittersRCV000596309RCV002404612

NM_022437.3(ABCG8):c.1212-7T>A SNV
Germline
Chr2:43873780 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Gallbladder disease 4
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637366 rs_759300542

4 SubmittersRCV000596297RCV001137120RCV002491222

NM_022437.3(ABCG8):c.888G>T (p.Ala296=) SNV
Germline
Chr2:43852792 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637194 rs_143182625

4 SubmittersRCV000597431RCV002448838

NM_022437.3(ABCG8):c.965-1G>A SNV
Germline
Chr2:43871975 Likely pathogenic Sitosterolemia Criteria Provided
Single Submitter
CA346668706 rs_957176669

1 SubmittersRCV000602419

NM_022437.3(ABCG8):c.965-1G>C SNV
Germline
Chr2:43871975 Pathogenic Condition: not provided
Sitosterolemia 1
Criteria Provided
Multiple Submitters
No Conflicts
CA46464948 rs_957176669

8 SubmittersRCV000658014RCV001784224

NM_022437.3(ABCG8):c.1884+9G>A SNV
Germline
Chr2:43877697 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA1637697 rs_759152941

2 SubmittersRCV000728268

NM_022437.3(ABCG8):c.694+5G>C SNV
Germline
Chr2:43852491 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Sitosterolemia 1
Gastric cancer
Criteria Provided
Conflicting Classifications
CA1637118 rs_557890655

6 SubmittersRCV000728644RCV003165959RCV005870826RCV005901879

NM_022437.3(ABCG8):c.579G>A (p.Ala193=) SNV
Germline
Chr2:43852371 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637079 rs_747555833

3 SubmittersRCV000728756RCV002352241

NM_022437.3(ABCG8):c.1211+7A>T SNV
Germline
Chr2:43872313 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA1637341 rs_568899040

3 SubmittersRCV000729057

NM_022437.3(ABCG8):c.369C>T (p.His123=) SNV
Germline
Chr2:43851630 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1636997 rs_139859350

4 SubmittersRCV000729104RCV002352243RCV004742608

NM_022437.3(ABCG8):c.1596C>T (p.Phe532=) SNV
Germline
Chr2:43875253 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637551 rs_374820261

4 SubmittersRCV000729179RCV002397505RCV003965509

NM_022437.3(ABCG8):c.695-7T>C SNV
Germline
Chr2:43852592 Conflicting classifications of pathogenicity Condition: not provided
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637147 rs_374648568

4 SubmittersRCV000729190RCV003965510

NM_022437.3(ABCG8):c.1757-4C>G SNV
Germline
Chr2:43877557 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA1637651 rs_765522418

2 SubmittersRCV000729372

NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu) SNV
Germline
Chr2:43839115 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1636859 rs_144411000

5 SubmittersRCV000729605RCV002360851RCV003411672RCV003492156

NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) SNV
Germline
Chr2:43875190 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637535 rs_763640657

3 SubmittersRCV000729660RCV002397507

NM_022437.3(ABCG8):c.165+10C>T SNV
Germline
Chr2:43844618 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA1636905 rs_574722652

2 SubmittersRCV000729850

NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) SNV
Germline
Chr2:43873928 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637411 rs_373560827

5 SubmittersRCV000730098RCV001137122RCV002386297RCV003965520

NM_022437.3(ABCG8):c.1212-10G>C SNV
Germline
Chr2:43873777 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1637364 rs_765938367

3 SubmittersRCV000730100RCV003323704

NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) SNV
Germline
Chr2:43874468 Conflicting classifications of pathogenicity Condition: not provided
not specified
Cardiovascular phenotype
ABCG8-related disorder
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637468 rs_146046068

7 SubmittersRCV000730444RCV001816799RCV002388364RCV003953313RCV005630805

NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) SNV
Germline
Chr2:43873868 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637393 rs_202176869

4 SubmittersRCV000730596RCV003279037RCV003953315

NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) SNV
Germline
Chr2:43877643 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637678 rs_147582834

6 SubmittersRCV000730825RCV001143788RCV001816800RCV002406665

NM_022437.3(ABCG8):c.1557C>T (p.Ala519=) SNV
Germline
Chr2:43875214 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA1637543 rs_368114257

2 SubmittersRCV000731407

NM_022437.3(ABCG8):c.546C>T (p.Ala182=) SNV
Germline
Chr2:43851807 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
not specified
Criteria Provided
Conflicting Classifications
CA1637045 rs_774395087

4 SubmittersRCV000731761RCV002343599RCV003330930

NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) SNV
Germline
Chr2:43875324 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Sitosterolemia 1
Gallbladder disease 4
Cardiovascular phenotype
ABCG8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1637585 rs_548098742

9 SubmittersRCV000731839RCV002245631RCV002507299RCV003165977RCV003965531RCV004768618

NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) SNV
Germline
Chr2:43872035 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637256 rs_145373839

6 SubmittersRCV000732196RCV002386304RCV003918214RCV005630809

NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) SNV
Germline
Chr2:43872295 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637337 rs_369131115

4 SubmittersRCV000732565RCV002343601RCV003928241

NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=) SNV
Germline
Chr2:43877814 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637725 rs_369023184

4 SubmittersRCV000732801RCV003165987RCV003892649

NM_022437.3(ABCG8):c.576C>A (p.Ile192=) SNV
Germline
Chr2:43852368 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
not specified
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA425871920 rs_148058949

4 SubmittersRCV000732858RCV002352251RCV003330932RCV003965537

NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) SNV
Germline
Chr2:43852370 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
not specified
Criteria Provided
Conflicting Classifications
CA1637078 rs_376362072

6 SubmittersRCV000732928RCV001139258RCV004768621

NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) SNV
Germline
Chr2:43875372 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
not specified
Sitosterolemia
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637601 rs_769576789

7 SubmittersRCV000732929RCV002397512RCV004768622RCV005357975RCV005633659

NM_022437.3(ABCG8):c.768C>T (p.Ser256=) SNV
Germline
Chr2:43852672 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA425872241 rs_1558811634

3 SubmittersRCV000732945RCV004659192

NM_022437.3(ABCG8):c.1647C>T (p.Ala549=) SNV
Germline
Chr2:43875304 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637576 rs_369736263

5 SubmittersRCV000733393RCV001141977RCV002388372RCV003947953

NM_022437.3(ABCG8):c.714A>G (p.Glu238=) SNV
Germline
Chr2:43852618 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA425872154 rs_1326764043

2 SubmittersRCV000734174RCV006342521

NM_022437.3(ABCG8):c.322+6G>A SNV
Germline
Chr2:43846317 Conflicting classifications of pathogenicity Condition: not provided
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1636964 rs_181319879

3 SubmittersRCV000734717RCV003955479

NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser) SNV
Germline
Chr2:43873801 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
ABCG8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1637371 rs_150977210

6 SubmittersRCV000885112RCV003141888RCV003948358RCV004768732

NM_022437.3(ABCG8):c.1386C>T (p.Asn462=) SNV
Germline
Chr2:43873961 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1637418 rs_371163697

7 SubmittersRCV000888273RCV001139359RCV002390870RCV003948394RCV004702506

NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe) SNV
Germline
Chr2:43852626 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
ABCG8-related disorder
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637157 rs_547583131

9 SubmittersRCV001092627RCV003142039RCV004743289RCV004768859RCV004986807

NM_022437.3(ABCG8):c.168G>A (p.Val56=) SNV
Germline
Chr2:43846157 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA46434525 rs_973149684

2 SubmittersRCV001143577RCV003736998

NM_022437.3(ABCG8):c.285G>C (p.Val95=) SNV
Germline
Chr2:43846274 Conflicting classifications of pathogenicity Sitosterolemia 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1636958 rs_771060960

3 SubmittersRCV001137000RCV002436718RCV005093606

NM_022437.3(ABCG8):c.855G>A (p.Leu285=) SNV
Germline
Chr2:43852759 Conflicting classifications of pathogenicity Sitosterolemia 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA46441674 rs_929726147

2 SubmittersRCV001143673RCV002411646

NM_022437.3(ABCG8):c.1206G>C (p.Leu402=) SNV
Germline
Chr2:43872301 Conflicting classifications of pathogenicity Sitosterolemia 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA425907941 rs_1041083656

2 SubmittersRCV001137119RCV006347427

NM_022437.3(ABCG8):c.561+14C>T SNV
Germline
Chr2:43851836 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1637051 rs_201961945

2 SubmittersRCV001139255RCV002070650

NM_022437.3(ABCG8):c.694+7G>T SNV
Germline
Chr2:43852493 Conflicting classifications of pathogenicity Sitosterolemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1637119 rs_777435511

2 SubmittersRCV001141879RCV002070700

NM_022437.3(ABCG8):c.632G>A (p.Arg211Gln) SNV
Germline
Chr2:43852424 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Sitosterolemia 1
ABCG8-related disorder
Criteria Provided
Conflicting Classifications
CA1637098 rs_777288244

4 SubmittersRCV001214704RCV004033938RCV005630884RCV004743329

NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter) SNV
Germline
Chr2:43852808 Pathogenic Sitosterolemia 1 No Assertion Criteria Provided
CA346666914 rs_1668974150

1 SubmittersRCV001248858

NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter) SNV
Germline
Chr2:43851622 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA1636994 rs_375005392

1 SubmittersRCV003562195

NM_022437.3(ABCG8):c.1949T>G (p.Leu650Arg) SNV
Germline
Chr2:43877840 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA346671394 rs_1209143268

1 SubmittersRCV001870437

NM_022437.3(ABCG8):c.1476T>A (p.Tyr492Ter) SNV
Germline
Chr2:43874471 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA1637469 rs_370422066

1 SubmittersRCV001967847

NM_022437.3(ABCG8):c.992G>A (p.Ser331Asn) SNV
Germline
Chr2:43872003 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637247 rs_751950437

2 SubmittersRCV002018200RCV005520666

NM_022437.3(ABCG8):c.2T>C (p.Met1Thr) SNV
Germline
Chr2:43839055 Conflicting classifications of pathogenicity Condition: not provided
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1636850 rs_538699999

4 SubmittersRCV002224309RCV002466278

NM_022437.3(ABCG8):c.811C>T (p.Gln271Ter) SNV
Germline
Chr2:43852715 Pathogenic/Likely pathogenic Condition: not provided
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA46441648 rs_371646728

3 SubmittersRCV002224387RCV005724774

NM_022437.3(ABCG8):c.1411+1G>T SNV
Germline
Chr2:43873987 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA1637420 rs_774129955

1 SubmittersRCV002224456

NM_022437.3(ABCG8):c.1412-2A>G SNV
Germline
Chr2:43874405 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA346669724 rs_2104947953

1 SubmittersRCV002224536

NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter) SNV
Germline
Chr2:43852785 Likely pathogenic Sitosterolemia 1 Criteria Provided
Single Submitter
CA1637191 rs_762279471

2 SubmittersRCV002245433

NM_022437.3(ABCG8):c.562-1G>A SNV
Germline
Chr2:43852353 Likely pathogenic Sitosterolemia 1 Criteria Provided
Single Submitter
CA346665875 rs_1317214046

1 SubmittersRCV002272663

NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter) SNV
Germline
Chr2:43875409 Pathogenic Sitosterolemia 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA1637612 rs_754182905

2 SubmittersRCV002272852RCV005058207

NM_022437.3(ABCG8):c.887C>T (p.Ala296Val) SNV
Germline
Chr2:43852791 Conflicting classifications of pathogenicity Cardiovascular phenotype
Sitosterolemia 1
Criteria Provided
Conflicting Classifications
CA1637193 rs_764334802

2 SubmittersRCV002375972RCV005631044

NM_022437.3(ABCG8):c.1127+14C>T SNV
Germline
Chr2:43872152 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1637292 rs_377097108

2 SubmittersRCV003060294RCV005419545

NM_022437.3(ABCG8):c.1488+2T>G SNV
Germline
Chr2:43874485 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA346670025 rs_2466280534

1 SubmittersRCV003058296

NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val) SNV
Germline
Chr2:43877681 Conflicting classifications of pathogenicity Condition: not provided
not specified
ABCG8-related disorder
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA1637689 rs_763289865

4 SubmittersRCV003083439RCV003155511RCV003973646RCV004661555

NM_022437.3(ABCG8):c.386C>A (p.Ser129Ter) SNV
Germline
Chr2:43851647 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA1637005 rs_762540907

1 SubmittersRCV003109206

NM_022437.3(ABCG8):c.562-1G>C SNV
Germline
Chr2:43852353 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA346665879 rs_1317214046

1 SubmittersRCV002770348

NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter) SNV
Germline
Chr2:43851751 Pathogenic Condition: not provided
Cardiovascular phenotype
Sitosterolemia 1
Criteria Provided
Multiple Submitters
No Conflicts
CA1637031 rs_780072835

3 SubmittersRCV002968099RCV005382518RCV005631076

NM_022437.3(ABCG8):c.1757-2A>G SNV
Germline
Chr2:43877559 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA346670745 rs_1558863867

1 SubmittersRCV003039389

NM_022437.3(ABCG8):c.1756+2T>A SNV
Germline
Chr2:43875415 Pathogenic Sitosterolemia 1 Criteria Provided
Single Submitter
CA1637617 rs_770488528

1 SubmittersRCV003141367

NM_022437.3(ABCG8):c.694+16G>A SNV
Germline
Chr2:43852502 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1637123 rs_768575372

2 SubmittersRCV003331915RCV006613023

NM_022437.3(ABCG8):c.1488+14G>T SNV
Germline
Chr2:43874497 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1637475 rs_752255874

3 SubmittersRCV003331916RCV005103936

NM_022437.3(ABCG8):c.165+16G>T SNV
Germline
Chr2:43844624 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1636910 rs_368992754

2 SubmittersRCV003331947RCV006472399

NM_022437.3(ABCG8):c.295C>T (p.Gln99Ter) SNV
Germline
Chr2:43846284 Likely pathogenic ABCG8-related disorder Criteria Provided
Single Submitter
CA346663656 rs_1426776095

1 SubmittersRCV003410869

NM_022437.3(ABCG8):c.1375A>G (p.Ile459Val) SNV
Germline
Chr2:43873950 Conflicting classifications of pathogenicity Sitosterolemia 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA346669551 rs_2466278135

2 SubmittersRCV003493256RCV004673901

NM_022437.3(ABCG8):c.1199C>T (p.Thr400Met) SNV
Germline
Chr2:43872294 Conflicting classifications of pathogenicity Sitosterolemia 1
Cardiovascular phenotype
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1637336 rs_4148217

3 SubmittersRCV003493257RCV006342995RCV006478701

NM_022437.3(ABCG8):c.964+1G>T SNV
Germline
Chr2:43852869 Likely pathogenic Condition: not provided
Early-onset coronary artery disease
Criteria Provided
Multiple Submitters
No Conflicts
CA346667043 rs_2466203768

2 SubmittersRCV003675384RCV004765922

NM_022437.3(ABCG8):c.196G>T (p.Glu66Ter) SNV
Germline
Chr2:43846185 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA346663438 rs_1349667660

1 SubmittersRCV003682569

NM_022437.3(ABCG8):c.52C>T (p.Gln18Ter) SNV
Germline
Chr2:43839105 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA346662585 rs_2466158443

1 SubmittersRCV003849506

NM_022437.3(ABCG8):c.923G>T (p.Gly308Val) SNV
Germline
Chr2:43852827 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter

1 SubmittersRCV004674222

NM_022437.3(ABCG8):c.1418C>A (p.Ser473Ter) SNV
Germline
Chr2:43874413 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005192109

NM_022437.3(ABCG8):c.1214G>A (p.Arg405His) SNV
Germline
Chr2:43873789 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005198129

NM_022437.3(ABCG8):c.111C>G (p.Tyr37Ter) SNV
Germline
Chr2:43844554 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005195812

NM_022437.3(ABCG8):c.1437C>G (p.Tyr479Ter) SNV
Germline
Chr2:43874432 Likely pathogenic Sitosterolemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005646035

NM_022437.3(ABCG8):c.1751G>A (p.Trp584Ter) SNV
Germline
Chr2:43875408 Likely pathogenic Sitosterolemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV006250114

NM_022437.3(ABCG8):c.1533C>A (p.Tyr511Ter) SNV
Germline
Chr2:43875190 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter

1 SubmittersRCV006355817

NM_022437.3(ABCG8):c.280A>T (p.Lys94Ter) SNV
Germline
Chr2:43846269 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006508891

NM_022437.3(ABCG8):c.165+1G>A SNV
Germline
Chr2:43844609 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006534524