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 SubmittersRCV000005255 RCV000255446 RCV000993693 RCV003407277 RCV002426490 RCV002504749
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 SubmittersRCV000005256 RCV000726168 RCV000993692 RCV002408452 RCV003407278 RCV005406725
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 SubmittersRCV000005257 RCV000593346 RCV005384639 RCV004766981 RCV004742213
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 SubmittersRCV000005258 RCV000727975 RCV003407279 RCV004984635
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 SubmittersRCV000005260 RCV000993691 RCV001699176 RCV003298028 RCV003952343
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 SubmittersRCV000032718 RCV001384588
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 SubmittersRCV003576061 RCV004369324 RCV005631215
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 SubmittersRCV000180362 RCV000764411 RCV001137117 RCV002345627 RCV003937636 RCV006456793
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 SubmittersRCV000331475 RCV000365326 RCV001421565 RCV003977731 RCV004021079
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 SubmittersRCV000301884 RCV002392797 RCV002502099 RCV003401237 RCV003137881
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 SubmittersRCV000292088 RCV001137001 RCV002321957
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 SubmittersRCV000296238 RCV003909985 RCV005407017 RCV004984777
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 SubmittersRCV000303441 RCV001143675 RCV004767216 RCV004984780
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 SubmittersRCV000279671 RCV003949895 RCV003137896
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 SubmittersRCV001514945 RCV001139254 RCV002348017 RCV000395777 RCV002494877 RCV003930153
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 SubmittersRCV000395773 RCV003897633 RCV000340091 RCV001270619 RCV002411167
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 SubmittersRCV001143674 RCV003330625 RCV003967781 RCV000345893 RCV002374478
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 SubmittersRCV001699284 RCV002411170 RCV000342751 RCV000403108
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 SubmittersRCV000275812 RCV002392810 RCV003949929 RCV004701392
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 SubmittersRCV000292147 RCV000306353 RCV002429236
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 SubmittersRCV000267860 RCV003330630 RCV003897658 RCV002379156
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 SubmittersRCV000262892 RCV000318546 RCV001094726 RCV002494900 RCV002365329 RCV003949962 RCV006268717
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 SubmittersRCV000271754 RCV000729735 RCV002450907 RCV003932335
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 SubmittersRCV000358331 RCV001247274 RCV002356468 RCV006263888
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 SubmittersRCV000318126 RCV003897767 RCV002392898
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 SubmittersRCV000360299 RCV002392899 RCV006445860
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 SubmittersRCV000262266 RCV002057699 RCV002402062 RCV004742389
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 SubmittersRCV000384329 RCV000592118 RCV001729552 RCV003372689
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 SubmittersRCV000387716 RCV000595758 RCV002057697 RCV002328861 RCV003922456
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 SubmittersRCV000344050 RCV002057698
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 SubmittersRCV000375988 RCV002348088 RCV003897766
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 SubmittersRCV000333238 RCV000595016 RCV002436203 RCV002519974 RCV003950162
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 SubmittersRCV000317041 RCV000597045 RCV002365403 RCV003972422
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 SubmittersRCV000357070 RCV001699467 RCV002402061 RCV005407068
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 SubmittersRCV000596127 RCV000907221 RCV001139257 RCV002358654 RCV003945381
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 SubmittersRCV000596342 RCV003227803 RCV004701680
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 SubmittersRCV000592534 RCV002420568
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 SubmittersRCV000594804 RCV002456299 RCV003952956
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 SubmittersRCV000596406 RCV001137121 RCV003330815 RCV003952976 RCV004984998
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 SubmittersRCV000594048 RCV002280880 RCV003420036 RCV005357786
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 SubmittersRCV000595922 RCV004742522 RCV005630765
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 SubmittersRCV000596816 RCV002404607
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 SubmittersRCV000593053 RCV005712211
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 SubmittersRCV000596299 RCV000764410 RCV002358659 RCV003139895 RCV003905542 RCV004767430
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 SubmittersRCV000594922 RCV001783098
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 SubmittersRCV000593809 RCV004985003
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 SubmittersRCV000594132 RCV002341529 RCV003952987
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 SubmittersRCV000591149 RCV002395533 RCV003330819 RCV004742530
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 SubmittersRCV000593013 RCV003139898 RCV003323628 RCV004024818
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 SubmittersRCV000596016 RCV002438543 RCV003900346
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 SubmittersRCV000596309 RCV002404612
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 SubmittersRCV000596297 RCV001137120 RCV002491222
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 SubmittersRCV000597431 RCV002448838
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 SubmittersRCV000658014 RCV001784224
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 SubmittersRCV000728644 RCV003165959 RCV005870826 RCV005901879
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 SubmittersRCV000728756 RCV002352241
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 SubmittersRCV000729104 RCV002352243 RCV004742608
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 SubmittersRCV000729179 RCV002397505 RCV003965509
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 SubmittersRCV000729190 RCV003965510
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 SubmittersRCV000729605 RCV002360851 RCV003411672 RCV003492156
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 SubmittersRCV000729660 RCV002397507
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 SubmittersRCV000730098 RCV001137122 RCV002386297 RCV003965520
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 SubmittersRCV000730100 RCV003323704
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 SubmittersRCV000730444 RCV001816799 RCV002388364 RCV003953313 RCV005630805
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 SubmittersRCV000730596 RCV003279037 RCV003953315
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 SubmittersRCV000730825 RCV001143788 RCV001816800 RCV002406665
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 SubmittersRCV000731761 RCV002343599 RCV003330930
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 SubmittersRCV000731839 RCV002245631 RCV002507299 RCV003165977 RCV003965531 RCV004768618
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 SubmittersRCV000732196 RCV002386304 RCV003918214 RCV005630809
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 SubmittersRCV000732565 RCV002343601 RCV003928241
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 SubmittersRCV000732801 RCV003165987 RCV003892649
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 SubmittersRCV000732858 RCV002352251 RCV003330932 RCV003965537
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 SubmittersRCV000732928 RCV001139258 RCV004768621
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 SubmittersRCV000732929 RCV002397512 RCV004768622 RCV005357975 RCV005633659
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 SubmittersRCV000732945 RCV004659192
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 SubmittersRCV000733393 RCV001141977 RCV002388372 RCV003947953
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 SubmittersRCV000734174 RCV006342521
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 SubmittersRCV000734717 RCV003955479
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 SubmittersRCV000885112 RCV003141888 RCV003948358 RCV004768732
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 SubmittersRCV000888273 RCV001139359 RCV002390870 RCV003948394 RCV004702506
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 SubmittersRCV001092627 RCV003142039 RCV004743289 RCV004768859 RCV004986807
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 SubmittersRCV001143577 RCV003736998
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 SubmittersRCV001137000 RCV002436718 RCV005093606
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 SubmittersRCV001143673 RCV002411646
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 SubmittersRCV001137119 RCV006347427
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 SubmittersRCV001139255 RCV002070650
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 SubmittersRCV001141879 RCV002070700
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 SubmittersRCV001214704 RCV004033938 RCV005630884 RCV004743329
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 SubmittersRCV002018200 RCV005520666
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 SubmittersRCV002224309 RCV002466278
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 SubmittersRCV002224387 RCV005724774
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 SubmittersRCV002272852 RCV005058207
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 SubmittersRCV002375972 RCV005631044
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 SubmittersRCV003060294 RCV005419545
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 SubmittersRCV003083439 RCV003155511 RCV003973646 RCV004661555
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 SubmittersRCV002968099 RCV005382518 RCV005631076
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 SubmittersRCV003331915 RCV006613023
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 SubmittersRCV003331916 RCV005103936
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 SubmittersRCV003331947 RCV006472399
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 SubmittersRCV003493256 RCV004673901
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 SubmittersRCV003493257 RCV006342995 RCV006478701
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 SubmittersRCV003675384 RCV004765922
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

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 SubmittersRCV000005255 RCV000255446 RCV000993693 RCV003407277 RCV002426490 RCV002504749

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 SubmittersRCV000005256 RCV000726168 RCV000993692 RCV002408452 RCV003407278 RCV005406725

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 SubmittersRCV000005257 RCV000593346 RCV005384639 RCV004766981 RCV004742213

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 SubmittersRCV000005258 RCV000727975 RCV003407279 RCV004984635

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 SubmittersRCV000005260 RCV000993691 RCV001699176 RCV003298028 RCV003952343

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 SubmittersRCV000032718 RCV001384588

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 SubmittersRCV003576061 RCV004369324 RCV005631215

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 SubmittersRCV000180362 RCV000764411 RCV001137117 RCV002345627 RCV003937636 RCV006456793

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 SubmittersRCV000331475 RCV000365326 RCV001421565 RCV003977731 RCV004021079

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 SubmittersRCV000301884 RCV002392797 RCV002502099 RCV003401237 RCV003137881

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 SubmittersRCV000292088 RCV001137001 RCV002321957

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 SubmittersRCV000296238 RCV003909985 RCV005407017 RCV004984777

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 SubmittersRCV000303441 RCV001143675 RCV004767216 RCV004984780

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 SubmittersRCV000279671 RCV003949895 RCV003137896

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 SubmittersRCV001514945 RCV001139254 RCV002348017 RCV000395777 RCV002494877 RCV003930153

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 SubmittersRCV000395773 RCV003897633 RCV000340091 RCV001270619 RCV002411167

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 SubmittersRCV001143674 RCV003330625 RCV003967781 RCV000345893 RCV002374478

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 SubmittersRCV001699284 RCV002411170 RCV000342751 RCV000403108

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 SubmittersRCV000275812 RCV002392810 RCV003949929 RCV004701392

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 SubmittersRCV000292147 RCV000306353 RCV002429236

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 SubmittersRCV000267860 RCV003330630 RCV003897658 RCV002379156

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 SubmittersRCV000262892 RCV000318546 RCV001094726 RCV002494900 RCV002365329 RCV003949962 RCV006268717

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 SubmittersRCV000271754 RCV000729735 RCV002450907 RCV003932335

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 SubmittersRCV000358331 RCV001247274 RCV002356468 RCV006263888

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 SubmittersRCV000318126 RCV003897767 RCV002392898

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 SubmittersRCV000360299 RCV002392899 RCV006445860

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 SubmittersRCV000262266 RCV002057699 RCV002402062 RCV004742389

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 SubmittersRCV000384329 RCV000592118 RCV001729552 RCV003372689

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 SubmittersRCV000387716 RCV000595758 RCV002057697 RCV002328861 RCV003922456

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 SubmittersRCV000344050 RCV002057698

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 SubmittersRCV000375988 RCV002348088 RCV003897766

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 SubmittersRCV000333238 RCV000595016 RCV002436203 RCV002519974 RCV003950162

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 SubmittersRCV000317041 RCV000597045 RCV002365403 RCV003972422

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 SubmittersRCV000357070 RCV001699467 RCV002402061 RCV005407068

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 SubmittersRCV000596127 RCV000907221 RCV001139257 RCV002358654 RCV003945381

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 SubmittersRCV000596342 RCV003227803 RCV004701680

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 SubmittersRCV000592534 RCV002420568

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 SubmittersRCV000594804 RCV002456299 RCV003952956

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 SubmittersRCV000596406 RCV001137121 RCV003330815 RCV003952976 RCV004984998

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 SubmittersRCV000594048 RCV002280880 RCV003420036 RCV005357786

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 SubmittersRCV000595922 RCV004742522 RCV005630765

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 SubmittersRCV000596816 RCV002404607

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 SubmittersRCV000593053 RCV005712211

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 SubmittersRCV000596299 RCV000764410 RCV002358659 RCV003139895 RCV003905542 RCV004767430

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 SubmittersRCV000594922 RCV001783098

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 SubmittersRCV000593809 RCV004985003

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 SubmittersRCV000594132 RCV002341529 RCV003952987

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 SubmittersRCV000591149 RCV002395533 RCV003330819 RCV004742530

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 SubmittersRCV000593013 RCV003139898 RCV003323628 RCV004024818

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 SubmittersRCV000596016 RCV002438543 RCV003900346

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 SubmittersRCV000596309 RCV002404612

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 SubmittersRCV000596297 RCV001137120 RCV002491222

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 SubmittersRCV000597431 RCV002448838

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 SubmittersRCV000658014 RCV001784224

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 SubmittersRCV000728644 RCV003165959 RCV005870826 RCV005901879

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 SubmittersRCV000728756 RCV002352241

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 SubmittersRCV000729104 RCV002352243 RCV004742608

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 SubmittersRCV000729179 RCV002397505 RCV003965509

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 SubmittersRCV000729190 RCV003965510

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 SubmittersRCV000729605 RCV002360851 RCV003411672 RCV003492156

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 SubmittersRCV000729660 RCV002397507

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 SubmittersRCV000730098 RCV001137122 RCV002386297 RCV003965520

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 SubmittersRCV000730100 RCV003323704

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 SubmittersRCV000730444 RCV001816799 RCV002388364 RCV003953313 RCV005630805

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 SubmittersRCV000730596 RCV003279037 RCV003953315

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 SubmittersRCV000730825 RCV001143788 RCV001816800 RCV002406665

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 SubmittersRCV000731761 RCV002343599 RCV003330930

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 SubmittersRCV000731839 RCV002245631 RCV002507299 RCV003165977 RCV003965531 RCV004768618

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 SubmittersRCV000732196 RCV002386304 RCV003918214 RCV005630809

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 SubmittersRCV000732565 RCV002343601 RCV003928241

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 SubmittersRCV000732801 RCV003165987 RCV003892649

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 SubmittersRCV000732858 RCV002352251 RCV003330932 RCV003965537

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 SubmittersRCV000732928 RCV001139258 RCV004768621

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 SubmittersRCV000732929 RCV002397512 RCV004768622 RCV005357975 RCV005633659

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 SubmittersRCV000732945 RCV004659192

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 SubmittersRCV000733393 RCV001141977 RCV002388372 RCV003947953

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 SubmittersRCV000734174 RCV006342521

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 SubmittersRCV000734717 RCV003955479

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 SubmittersRCV000885112 RCV003141888 RCV003948358 RCV004768732

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 SubmittersRCV000888273 RCV001139359 RCV002390870 RCV003948394 RCV004702506

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 SubmittersRCV001092627 RCV003142039 RCV004743289 RCV004768859 RCV004986807

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 SubmittersRCV001143577 RCV003736998

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 SubmittersRCV001137000 RCV002436718 RCV005093606

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 SubmittersRCV001143673 RCV002411646

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 SubmittersRCV001137119 RCV006347427

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 SubmittersRCV001139255 RCV002070650

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 SubmittersRCV001141879 RCV002070700

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 SubmittersRCV001214704 RCV004033938 RCV005630884 RCV004743329

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 SubmittersRCV002018200 RCV005520666

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 SubmittersRCV002224309 RCV002466278

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 SubmittersRCV002224387 RCV005724774

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 SubmittersRCV002272852 RCV005058207

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 SubmittersRCV002375972 RCV005631044

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 SubmittersRCV003060294 RCV005419545

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 SubmittersRCV003083439 RCV003155511 RCV003973646 RCV004661555

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 SubmittersRCV002968099 RCV005382518 RCV005631076

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 SubmittersRCV003331915 RCV006613023

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 SubmittersRCV003331916 RCV005103936

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 SubmittersRCV003331947 RCV006472399

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 SubmittersRCV003493256 RCV004673901

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 SubmittersRCV003493257 RCV006342995 RCV006478701

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 SubmittersRCV003675384 RCV004765922

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