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 Cardiovascular phenotype ABCG8-related disorder Gallbladder disease 4 Sitosterolemia 1	Criteria Provided Multiple Submitters No Conflicts	CA253359	rs_137852987	15 SubmittersRCV000005255 RCV000255446 RCV000993693 RCV002426490 RCV003407277 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	Criteria Provided Multiple Submitters No Conflicts	CA253361	rs_137852988	10 SubmittersRCV000005256 RCV000726168 RCV000993692 RCV002408452 RCV003407278
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)	SNV Germline	Chr2:43877865	Conflicting classifications of pathogenicity	Sitosterolemia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA253362	rs_137852989	4 SubmittersRCV000005257 RCV000593346
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	Criteria Provided Conflicting Classifications	CA253364	rs_137852990	5 SubmittersRCV000005258 RCV000727975 RCV003407279
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	8 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_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)	SNV Germline	Chr2:43824015	Pathogenic/Likely pathogenic	Sitosterolemia 2 Condition: not provided Sitosterolemia	Criteria Provided Multiple Submitters No Conflicts	CA253370	rs_119479065	6 SubmittersRCV000005264 RCV001727512 RCV003505078
NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)	SNV Germline	Chr2:43826429	Pathogenic	Sitosterolemia 2 ABCG5-related disorder	Criteria Provided Single Submitter	CA253372	rs_119479066	2 SubmittersRCV000005265 RCV003415656
NM_022436.3(ABCG5):c.1256G>A (p.Arg419His)	SNV Germline	Chr2:43823981	Pathogenic	Sitosterolemia 2	No Assertion Criteria Provided	CA253374	rs_119479067	1 SubmittersRCV000005266
NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro)	SNV Germline	Chr2:43823981	Pathogenic	Sitosterolemia 2	No Assertion Criteria Provided	CA253375	rs_119479067	1 SubmittersRCV000005267
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)	SNV Germline	Chr2:43824071	Pathogenic/Likely pathogenic	Sitosterolemia 2 Sitosterolemia Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA253376	rs_119480069	6 SubmittersRCV000005268 RCV001232197 RCV002223753 RCV002326665
NM_022436.3(ABCG5):c.229G>T (p.Glu77Ter)	SNV Germline	Chr2:43837870	Pathogenic	Sitosterolemia 2	No Assertion Criteria Provided	CA253377	rs_119480070	1 SubmittersRCV000005269
NM_022436.3(ABCG5):c.46C>T (p.Gln16Ter)	SNV Germline	Chr2:43838634	Pathogenic	Sitosterolemia 2	No Assertion Criteria Provided	CA259823	rs_387906912	1 SubmittersRCV000023441
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)	SNV Germline	Chr2:43846309	Pathogenic	Sitosterolemia 1 Condition: not provided	Criteria Provided Single Submitter	CA343788	rs_137854891	2 SubmittersRCV000032718 RCV001384588
NM_022436.3(ABCG5):c.1763-7T>G	SNV Germline	Chr2:43813316	Conflicting classifications of pathogenicity	not specified Sitosterolemia Condition: not provided	Criteria Provided Conflicting Classifications	CA201074	rs_114780578	5 SubmittersRCV000174594 RCV000972643 RCV001589053
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 ABCG8-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247798	rs_144200355	10 SubmittersRCV000180362 RCV000764411 RCV001137117 RCV003937636 RCV002345627
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)	SNV Germline	Chr2:43875302	Conflicting classifications of pathogenicity	Sitosterolemia 1 not specified ABCG8-related disorder Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1637574	rs_140690030	7 SubmittersRCV000331475 RCV000365326 RCV003977731 RCV001421565 RCV004021079
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)	SNV Germline	Chr2:43874431	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia Cardiovascular phenotype Sitosterolemia 1 Gallbladder disease 4 Sitosterolemia 1 ABCG8-related disorder	Criteria Provided Conflicting Classifications	CA1637453	rs_150890296	14 SubmittersRCV000301884 RCV000305538 RCV002392797 RCV003137881 RCV002502099 RCV003401237
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)	SNV Germline	Chr2:43838600	Conflicting classifications of pathogenicity	Condition: not provided Thrombocytopenia Sitosterolemia 1 not specified Cardiovascular phenotype ABCG5-related disorder Sitosterolemia	Criteria Provided Conflicting Classifications	CA1636806	rs_56204478	11 SubmittersRCV000384239 RCV000852225 RCV001094624 RCV001699095 RCV002418109 RCV003977758 RCV003611507
NM_022436.3(ABCG5):c.696C>T (p.Val232=)	SNV Germline	Chr2:43826460	Conflicting classifications of pathogenicity	not specified Sitosterolemia Sitosterolemia 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636557	rs_72796720	11 SubmittersRCV000286899 RCV000972441 RCV001139041 RCV001582908 RCV002365308
NM_022436.3(ABCG5):c.408C>T (p.Asp136=)	SNV Germline	Chr2:43831862	Conflicting classifications of pathogenicity	Cardiovascular phenotype Sitosterolemia Condition: not provided	Criteria Provided Conflicting Classifications	CA10604768	rs_141386201	3 SubmittersRCV002321953 RCV002519150 RCV000280097
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)	SNV Germline	Chr2:43828024	Conflicting classifications of pathogenicity	not specified Condition: not provided Sitosterolemia Sitosterolemia 1 Sitosterolemia 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636599	rs_141828689	12 SubmittersRCV000286622 RCV000658134 RCV000986627 RCV001141655 RCV003137889 RCV003298337
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_022436.3(ABCG5):c.50T>G (p.Val17Gly)	SNV Germline	Chr2:43838630	Conflicting classifications of pathogenicity	not specified Sitosterolemia ABCG5-related disorder Sitosterolemia 2	Criteria Provided Conflicting Classifications	CA1636811	rs_72542427	5 SubmittersRCV000393828 RCV000892629 RCV003909988 RCV003137895
NM_022436.3(ABCG5):c.834G>A (p.Ala278=)	SNV Germline	Chr2:43824959	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Sitosterolemia	Criteria Provided Conflicting Classifications	CA1636492	rs_373182673	3 SubmittersRCV000355005 RCV002436118 RCV002519266
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)	SNV Germline	Chr2:43872105	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1	Criteria Provided Conflicting Classifications	CA1637275	rs_140778634	4 SubmittersRCV000303441 RCV001143675
NM_022437.3(ABCG8):c.1756+6G>A	SNV Germline	Chr2:43875419	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1 ABCG8-related disorder	Criteria Provided Conflicting Classifications	CA1637619	rs_375563605	4 SubmittersRCV000279671 RCV003137896 RCV003949895
NM_022436.3(ABCG5):c.265+10G>A	SNV Germline	Chr2:43837824	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia	Criteria Provided Conflicting Classifications	CA1636732	rs_140341571	2 SubmittersRCV000285579 RCV001424239
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)	SNV Germline	Chr2:43877815	Conflicting classifications of pathogenicity	Sitosterolemia 1 Condition: not provided Abnormal bleeding Thrombocytopenia Cardiovascular phenotype ABCG8-related disorder	Criteria Provided Conflicting Classifications	CA1637726	rs_113005049	9 SubmittersRCV000340091 RCV000395773 RCV001270619 RCV002411167 RCV003897633
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)	SNV Germline	Chr2:43852774	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1 not specified Cardiovascular phenotype ABCG8-related disorder	Criteria Provided Conflicting Classifications	CA1637187	rs_117221284	7 SubmittersRCV000345893 RCV001143674 RCV003330625 RCV002374478 RCV003967781
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)	SNV Germline	Chr2:43877832	Conflicting classifications of pathogenicity	Condition: not provided not specified Sitosterolemia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1637728	rs_147991100	8 SubmittersRCV000342751 RCV001699284 RCV000403108 RCV002411170
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)	SNV Germline	Chr2:43824380	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia not specified Cardiovascular phenotype ABCG5-related disorder	Criteria Provided Conflicting Classifications	CA1636433	rs_146131711	8 SubmittersRCV000384289 RCV001078882 RCV001820836 RCV002379150 RCV003967794
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)	SNV Germline	Chr2:43832056	Conflicting classifications of pathogenicity	not specified Sitosterolemia Condition: not provided Sitosterolemia 1 Hyperuricemic nephropathy, familial juvenile type 4 Cardiovascular phenotype ABCG5-related disorder	Criteria Provided Conflicting Classifications	CA1636713	rs_145164937	10 SubmittersRCV000376941 RCV001086479 RCV000766455 RCV001141660 RCV001836763 RCV002436125 RCV003920159
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)	SNV Germline	Chr2:43828106	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1 Cardiovascular phenotype ABCG5-related disorder Sitosterolemia	Criteria Provided Conflicting Classifications	CA1636623	rs_777411661	5 SubmittersRCV000386077 RCV001141657 RCV002348023 RCV003897651 RCV002519332
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)	SNV Germline	Chr2:43822814	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia ABCG5-related disorder	Criteria Provided Conflicting Classifications	CA1636276	rs_886044572	3 SubmittersRCV000350093 RCV002059303 RCV003949956
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	SNV Germline	Chr2:43814495	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1 ABCG5-related disorder Sitosterolemia Sitosterolemia 2	Criteria Provided Conflicting Classifications	CA1636181	rs_144973796	9 SubmittersRCV000263615 RCV000367922 RCV003920170 RCV002059307 RCV002467723
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	Criteria Provided Conflicting Classifications	CA1637156	rs_34754243	11 SubmittersRCV000262892 RCV000318546 RCV001094726 RCV002494900 RCV002365329 RCV003949962
NM_022436.3(ABCG5):c.804C>T (p.Phe268=)	SNV Germline	Chr2:43824989	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1 Cardiovascular phenotype Sitosterolemia	Criteria Provided Conflicting Classifications	CA1636500	rs_554183818	4 SubmittersRCV000383896 RCV001139040 RCV002418139 RCV003505103
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	SNV Germline	Chr2:43824074	Conflicting classifications of pathogenicity	Sitosterolemia 1 Sitosterolemia Cardiovascular phenotype Sitosterolemia 2 Condition: not provided ABCG5-related disorder	Criteria Provided Conflicting Classifications	CA1636380	rs_149418765	7 SubmittersRCV000290288 RCV001209660 RCV002323543 RCV003137963 RCV003480606 RCV003922453
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	5 SubmittersRCV000271754 RCV000729735 RCV002450907 RCV003932335
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	Criteria Provided Conflicting Classifications	CA1637467	rs_775837092	2 SubmittersRCV000360299 RCV002392899
NM_022437.3(ABCG8):c.1569A>G (p.Pro523=)	SNV Germline	Chr2:43875226	Conflicting classifications of pathogenicity	Sitosterolemia 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1637547	rs_575386215	3 SubmittersRCV000262266 RCV002057699 RCV002402062
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	8 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	5 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_022436.3(ABCG5):c.*285G>C	SNV Germline	Chr2:43812831	Conflicting classifications of pathogenicity	Sitosterolemia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10615225	rs_114868704	3 SubmittersRCV000298190 RCV001556599
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)	SNV Germline	Chr2:43824990	Conflicting classifications of pathogenicity	Sitosterolemia 1 not specified Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636501	rs_770103215	4 SubmittersRCV000395583 RCV003330644 RCV003505106 RCV002411230
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 ABCG8-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1637285	rs_554680915	5 SubmittersRCV000333238 RCV000595016 RCV002436203 RCV003950162 RCV002519974
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)	SNV Germline	Chr2:43819995	Conflicting classifications of pathogenicity	Sitosterolemia 1 Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636228	rs_376969021	3 SubmittersRCV000273431 RCV002057696 RCV002402060
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)	SNV Germline	Chr2:43822849	Conflicting classifications of pathogenicity	Sitosterolemia 1 Sitosterolemia ABCG5-related disorder Sitosterolemia 2	Criteria Provided Conflicting Classifications	CA1636285	rs_143402711	4 SubmittersRCV000333591 RCV001497092 RCV003957735 RCV003227742
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)	SNV Germline	Chr2:43822895	Conflicting classifications of pathogenicity	Sitosterolemia Sitosterolemia 1 Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636294	rs_141016088	7 SubmittersRCV000388056 RCV001094751 RCV000598247 RCV001729549 RCV002379229
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)	SNV Germline	Chr2:43824057	Conflicting classifications of pathogenicity	Sitosterolemia 1 Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636374	rs_771802286	3 SubmittersRCV000384440 RCV002519970 RCV002338935
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	Criteria Provided Conflicting Classifications	CA1637546	rs_558635043	6 SubmittersRCV000357070 RCV001699467 RCV002402061
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)	SNV Germline	Chr2:43823986	Conflicting classifications of pathogenicity	not specified Sitosterolemia Condition: not provided Sitosterolemia 1 ABCG5-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636353	rs_146801512	8 SubmittersRCV000591881 RCV000907220 RCV001551376 RCV001136801 RCV003962663 RCV002413671
NM_022437.3(ABCG8):c.576C>T (p.Ile192=)	SNV Germline	Chr2:43852368	Conflicting classifications of pathogenicity	not specified Sitosterolemia 1 Condition: not provided Cardiovascular phenotype ABCG8-related disorder	Criteria Provided Conflicting Classifications	CA1637076	rs_148058949	7 SubmittersRCV000596127 RCV001139257 RCV000907221 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	Criteria Provided Conflicting Classifications	CA1637422	rs_201991639	3 SubmittersRCV000596342 RCV003227803
NM_022436.3(ABCG5):c.1602G>C (p.Val534=)	SNV Germline	Chr2:43819962	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Sitosterolemia	Criteria Provided Conflicting Classifications	CA425757978	rs_1280735521	3 SubmittersRCV000591280 RCV004024718 RCV002531002
NM_022436.3(ABCG5):c.780T>C (p.Phe260=)	SNV Germline	Chr2:43825013	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1636507	rs_765847597	3 SubmittersRCV000595218 RCV001462661 RCV002413676
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	Criteria Provided Conflicting Classifications	CA1637390	rs_147194762	7 SubmittersRCV000596406 RCV001137121 RCV003330815 RCV003952976
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)	SNV Germline	Chr2:43875265	Pathogenic	Condition: not provided Sitosterolemia 1 ABCG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA46471077	rs_544500542	4 SubmittersRCV000594048 RCV002280880 RCV003420036
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)	SNV Germline	Chr2:43872255	Conflicting classifications of pathogenicity	Condition: not provided Gallbladder disease 4 Sitosterolemia Cardiovascular phenotype Sitosterolemia 1 ABCG8-related disorder	Criteria Provided Conflicting Classifications	CA1637324	rs_150654176	10 SubmittersRCV000596299 RCV000764410 RCV002358659 RCV003139895 RCV003905542
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_022436.3(ABCG5):c.1398C>T (p.Ala466=)	SNV Germline	Chr2:43822862	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype ABCG5-related disorder Sitosterolemia	Criteria Provided Conflicting Classifications	CA1636289	rs_373514009	4 SubmittersRCV000595762 RCV002395531 RCV003927930 RCV003611522
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)	SNV Germline	Chr2:43844540	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	CA1636887	rs_148456883	8 SubmittersRCV000591513 RCV001336053 RCV002384302 RCV001821728 RCV002506425 RCV003952984
NM_022436.3(ABCG5):c.510C>T (p.Ala170=)	SNV Germline	Chr2:43828107	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia Cardiovascular phenotype ABCG5-related disorder	Criteria Provided Conflicting Classifications	CA1636624	rs_147061424	4 SubmittersRCV000594544 RCV001455111 RCV002341530 RCV003962711
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	6 SubmittersRCV000593013 RCV003139898 RCV003323628 RCV004024818
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_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	SNV Germline	Chr2:43819997	Conflicting classifications of pathogenicity	not specified Sitosterolemia 1 Sitosterolemia Condition: not provided Cardiovascular phenotype ABCG5-related disorder	Criteria Provided Conflicting Classifications	CA1636229	rs_140899003	10 SubmittersRCV000595235 RCV001143372 RCV001521409 RCV001584407 RCV002404614 RCV003915740
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		rs_957176669	8 SubmittersRCV000658014 RCV001784224
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)	SNV Germline	Chr2:43832024	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Sitosterolemia not specified Sitosterolemia 2 ABCG5-related disorder	Criteria Provided Conflicting Classifications		rs_201889290	8 SubmittersRCV000728786 RCV002325445 RCV002535093 RCV003330923 RCV002468027 RCV003947914
NM_022436.3(ABCG5):c.300C>G (p.Ser100=)	SNV Germline	Chr2:43832049	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1212418813	3 SubmittersRCV000728787 RCV002535094 RCV002440567
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)	SNV Germline	Chr2:43813266	Conflicting classifications of pathogenicity	not specified Sitosterolemia 1 Sitosterolemia Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_150716811	7 SubmittersRCV000728857 RCV001141537 RCV000958290 RCV001709687 RCV002406661
NM_022436.3(ABCG5):c.828G>A (p.Thr276=)	SNV Germline	Chr2:43824965	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype ABCG5-related disorder Sitosterolemia	Criteria Provided Conflicting Classifications		rs_539178581	4 SubmittersRCV000729310 RCV002424742 RCV003892615 RCV002535115
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)	SNV Germline	Chr2:43823926	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_575266356	3 SubmittersRCV000729467 RCV002067096 RCV002386294
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)	SNV Germline	Chr2:43839115	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Sitosterolemia 1 ABCG8-related disorder	Criteria Provided Conflicting Classifications		rs_144411000	5 SubmittersRCV000729605 RCV002360851 RCV003492156 RCV003411672
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		rs_373560827	5 SubmittersRCV000730098 RCV001137122 RCV002386297 RCV003965520
NM_022436.3(ABCG5):c.282G>A (p.Thr94=)	SNV Germline	Chr2:43832067	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_756339433	4 SubmittersRCV000730751 RCV002535168 RCV003323705 RCV004026996
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)	SNV Germline	Chr2:43877643	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Sitosterolemia 1	Criteria Provided Conflicting Classifications		rs_147582834	5 SubmittersRCV000730825 RCV001816800 RCV002406665 RCV001143788
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)	SNV Germline	Chr2:43838541	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 2 Sitosterolemia not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_72542426	5 SubmittersRCV000731084 RCV002280885 RCV001855650 RCV003330928 RCV004027001
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)	SNV Germline	Chr2:43875324	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1 Gallbladder disease 4 Sitosterolemia 1 Cardiovascular phenotype ABCG8-related disorder	Criteria Provided Conflicting Classifications		rs_548098742	8 SubmittersRCV000731839 RCV002245631 RCV002507299 RCV003165977 RCV003965531
NM_022436.3(ABCG5):c.915G>A (p.Thr305=)	SNV Germline	Chr2:43824422	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia Cardiovascular phenotype ABCG5-related disorder	Criteria Provided Conflicting Classifications		rs_773296588	4 SubmittersRCV000732701 RCV001401108 RCV002369999 RCV003396306
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val)	SNV Germline	Chr2:43852370	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1	Criteria Provided Conflicting Classifications		rs_376362072	3 SubmittersRCV000732928 RCV001139258
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)	SNV Germline	Chr2:43838581	Conflicting classifications of pathogenicity	Condition: not provided not specified Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_149907931	4 SubmittersRCV000733189 RCV003323707 RCV002067146 RCV002386306
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		rs_369736263	5 SubmittersRCV000733393 RCV001141977 RCV002388372 RCV003947953
NM_022436.3(ABCG5):c.550C>T (p.Leu184=)	SNV Germline	Chr2:43828067	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia Cardiovascular phenotype ABCG5-related disorder	Criteria Provided Conflicting Classifications		rs_762951266	4 SubmittersRCV000733583 RCV002535339 RCV003165992 RCV003938123
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)	SNV Germline	Chr2:43831828	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1 Sitosterolemia Cardiovascular phenotype ABCG5-related disorder	Criteria Provided Conflicting Classifications		rs_143444046	5 SubmittersRCV000734052 RCV001141659 RCV001523024 RCV002332533 RCV003955474
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)	SNV Germline	Chr2:43820064	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia ABCG5-related disorder	Criteria Provided Conflicting Classifications		rs_767584159	3 SubmittersRCV000735033 RCV002535413 RCV003975294
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	Criteria Provided Conflicting Classifications		rs_150977210	3 SubmittersRCV000885112 RCV003141888 RCV003948358
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	Criteria Provided Conflicting Classifications		rs_371163697	6 SubmittersRCV000888273 RCV001139359 RCV002390870 RCV003948394
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser)	SNV Germline	Chr2:43822894	Conflicting classifications of pathogenicity	Sitosterolemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200378113	2 SubmittersRCV000901064 RCV002382052
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter)	SNV Germline	Chr2:43822886	Pathogenic/Likely pathogenic	Condition: not provided Sitosterolemia 2 Sitosterolemia	Criteria Provided Multiple Submitters No Conflicts		rs_1558738919	3 SubmittersRCV000997120 RCV001534613 RCV003611543
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)	SNV Germline	Chr2:43822923	Conflicting classifications of pathogenicity	Sitosterolemia Sitosterolemia 2	Criteria Provided Conflicting Classifications		rs_536081800	2 SubmittersRCV001046676 RCV002468121
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)	SNV Germline	Chr2:43852626	Conflicting classifications of pathogenicity	Condition: not provided Sitosterolemia 1	Criteria Provided Conflicting Classifications		rs_547583131	5 SubmittersRCV001092627 RCV003142039
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	SNV Germline	Chr2:43838541	Conflicting classifications of pathogenicity	Sitosterolemia 1 Sitosterolemia Sitosterolemia 2 Condition: not provided Cardiovascular phenotype not specified ABCG5-related disorder	Criteria Provided Conflicting Classifications		rs_72542426	7 SubmittersRCV001136896 RCV001512079 RCV002468177 RCV002261289 RCV003293896 RCV003331050 RCV003938487
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		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	Criteria Provided Conflicting Classifications		rs_771060960	2 SubmittersRCV001137000 RCV002436718
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		rs_929726147	2 SubmittersRCV001143673 RCV002411646
NM_022436.3(ABCG5):c.1118+13C>G	SNV Germline	Chr2:43824206	Conflicting classifications of pathogenicity	Sitosterolemia 1 Sitosterolemia	Criteria Provided Conflicting Classifications		rs_371609600	2 SubmittersRCV001136804 RCV001856744
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		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		rs_777435511	2 SubmittersRCV001141879 RCV002070700
NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter)	SNV Germline	Chr2:43852808	Pathogenic	Sitosterolemia 1	No Assertion Criteria Provided		rs_1668974150	1 SubmittersRCV001248858
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter)	SNV Germline	Chr2:43813186	Pathogenic	Sitosterolemia	Criteria Provided Single Submitter		rs_772295351	1 SubmittersRCV002659647
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)	SNV Germline	Chr2:43824423	Pathogenic/Likely pathogenic	Sitosterolemia Sitosterolemia 2 Sitosterolemia 1	Criteria Provided Multiple Submitters No Conflicts		rs_143740796	2 SubmittersRCV001350898 RCV002280904 RCV002245972
NM_022436.3(ABCG5):c.634+1G>A	SNV Germline	Chr2:43827982	Likely pathogenic	Sitosterolemia	Criteria Provided Single Submitter		rs_370368811	1 SubmittersRCV001379567
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter)	SNV Germline	Chr2:43826405	Pathogenic	Sitosterolemia Sitosterolemia 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_140111105	4 SubmittersRCV001449803 RCV002466677 RCV004038481
NM_022436.3(ABCG5):c.-76C>T	SNV Germline	Chr2:43838755	Conflicting classifications of pathogenicity	Sitosterolemia Sitosterolemia 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_560839317	3 SubmittersRCV001779417 RCV003447602 RCV004040790
NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp)	SNV Germline	Chr2:43824009	Conflicting classifications of pathogenicity	Sitosterolemia Cardiovascular phenotype Sitosterolemia 2	Criteria Provided Conflicting Classifications		rs_115590670	3 SubmittersRCV002012506 RCV003170455 RCV003138018
NM_022437.3(ABCG8):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:43839055	Likely pathogenic	Condition: not provided Sitosterolemia 1	Criteria Provided Multiple Submitters No Conflicts		rs_538699999	2 SubmittersRCV002224309 RCV002466278
NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter)	SNV Unknown	Chr2:43852785	Pathogenic	Sitosterolemia 1	No Assertion Criteria Provided		rs_762279471	1 SubmittersRCV002245433
NM_022437.3(ABCG8):c.562-1G>A	SNV Germline	Chr2:43852353	Likely pathogenic	Sitosterolemia 1	Criteria Provided Single Submitter		rs_1317214046	1 SubmittersRCV002272663
NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter)	SNV Germline	Chr2:43875409	Pathogenic	Sitosterolemia 1	Criteria Provided Single Submitter		rs_754182905	1 SubmittersRCV002272852
NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)	SNV Germline	Chr2:43823926	Likely pathogenic	Sitosterolemia	Criteria Provided Single Submitter			1 SubmittersRCV002634369
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)	SNV Germline	Chr2:43828070	Pathogenic	Sitosterolemia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003122695 RCV003162174
NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter)	SNV Germline	Chr2:43814582	Pathogenic	Sitosterolemia	Criteria Provided Single Submitter			1 SubmittersRCV002578084
NM_022436.3(ABCG5):c.1573C>T (p.Gln525Ter)	SNV Germline	Chr2:43819991	Pathogenic	Sitosterolemia	Criteria Provided Single Submitter			1 SubmittersRCV002875983
NM_022437.3(ABCG8):c.1756+2T>A	SNV Germline	Chr2:43875415	Pathogenic	Sitosterolemia 1	Criteria Provided Single Submitter			1 SubmittersRCV003141367
NM_022436.3(ABCG5):c.833C>T (p.Ala278Val)	SNV Germline	Chr2:43824960	Conflicting classifications of pathogenicity	Sitosterolemia 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications			2 SubmittersRCV003492848 RCV004255393
NM_022436.3(ABCG5):c.1763-1G>A	SNV Germline	Chr2:43813310	Pathogenic	Sitosterolemia	Criteria Provided Single Submitter			1 SubmittersRCV003506210
NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter)	SNV Germline	Chr2:43831982	Pathogenic	Sitosterolemia	Criteria Provided Single Submitter			1 SubmittersRCV003506686
NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter)	SNV Germline	Chr2:43823964	Pathogenic	Sitosterolemia	Criteria Provided Single Submitter			1 SubmittersRCV003611425

NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)

SNV
Germline

Chr2:43872094

Pathogenic/Likely pathogenic

Sitosterolemia
Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
Gallbladder disease 4
Sitosterolemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA253359

rs_137852987

15 SubmittersRCV000005255 RCV000255446 RCV000993693 RCV002426490 RCV003407277 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

Criteria Provided
Multiple Submitters
No Conflicts

CA253361

rs_137852988

10 SubmittersRCV000005256 RCV000726168 RCV000993692 RCV002408452 RCV003407278

NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)

SNV
Germline

Chr2:43877865

Conflicting classifications of pathogenicity

Sitosterolemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA253362

rs_137852989

4 SubmittersRCV000005257 RCV000593346

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

Criteria Provided
Conflicting Classifications

CA253364

rs_137852990

5 SubmittersRCV000005258 RCV000727975 RCV003407279

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

8 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_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)

SNV
Germline

Chr2:43824015

Pathogenic/Likely pathogenic

Sitosterolemia 2
Condition: not provided
Sitosterolemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253370

rs_119479065

6 SubmittersRCV000005264 RCV001727512 RCV003505078

NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)

SNV
Germline

Chr2:43826429

Pathogenic

Sitosterolemia 2
ABCG5-related disorder

Criteria Provided
Single Submitter

CA253372

rs_119479066

2 SubmittersRCV000005265 RCV003415656

NM_022436.3(ABCG5):c.1256G>A (p.Arg419His)

SNV
Germline

Chr2:43823981

Pathogenic

Sitosterolemia 2

No Assertion Criteria Provided

CA253374

rs_119479067

1 SubmittersRCV000005266

NM_022436.3(ABCG5):c.1256G>C (p.Arg419Pro)

SNV
Germline

Chr2:43823981

Pathogenic

Sitosterolemia 2

No Assertion Criteria Provided

CA253375

rs_119479067

1 SubmittersRCV000005267

NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)

SNV
Germline

Chr2:43824071

Pathogenic/Likely pathogenic

Sitosterolemia 2
Sitosterolemia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA253376

rs_119480069

6 SubmittersRCV000005268 RCV001232197 RCV002223753 RCV002326665

NM_022436.3(ABCG5):c.229G>T (p.Glu77Ter)

SNV
Germline

Chr2:43837870

Pathogenic

Sitosterolemia 2

No Assertion Criteria Provided

CA253377

rs_119480070

1 SubmittersRCV000005269

NM_022436.3(ABCG5):c.46C>T (p.Gln16Ter)

SNV
Germline

Chr2:43838634

Pathogenic

Sitosterolemia 2

No Assertion Criteria Provided

CA259823

rs_387906912

1 SubmittersRCV000023441

NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)

SNV
Germline

Chr2:43846309

Pathogenic

Sitosterolemia 1
Condition: not provided

Criteria Provided
Single Submitter

CA343788

rs_137854891

2 SubmittersRCV000032718 RCV001384588

NM_022436.3(ABCG5):c.1763-7T>G

SNV
Germline

Chr2:43813316

Conflicting classifications of pathogenicity

not specified
Sitosterolemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201074

rs_114780578

5 SubmittersRCV000174594 RCV000972643 RCV001589053

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
ABCG8-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247798

rs_144200355

10 SubmittersRCV000180362 RCV000764411 RCV001137117 RCV003937636 RCV002345627

NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)

SNV
Germline

Chr2:43875302

Conflicting classifications of pathogenicity

Sitosterolemia 1
not specified
ABCG8-related disorder
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1637574

rs_140690030

7 SubmittersRCV000331475 RCV000365326 RCV003977731 RCV001421565 RCV004021079

NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)

SNV
Germline

Chr2:43874431

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
Cardiovascular phenotype
Sitosterolemia 1
Gallbladder disease 4
Sitosterolemia 1
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

CA1637453

rs_150890296

14 SubmittersRCV000301884 RCV000305538 RCV002392797 RCV003137881 RCV002502099 RCV003401237

NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)

SNV
Germline

Chr2:43838600

Conflicting classifications of pathogenicity

Condition: not provided
Thrombocytopenia
Sitosterolemia 1
not specified
Cardiovascular phenotype
ABCG5-related disorder
Sitosterolemia

Criteria Provided
Conflicting Classifications

CA1636806

rs_56204478

11 SubmittersRCV000384239 RCV000852225 RCV001094624 RCV001699095 RCV002418109 RCV003977758 RCV003611507

NM_022436.3(ABCG5):c.696C>T (p.Val232=)

SNV
Germline

Chr2:43826460

Conflicting classifications of pathogenicity

not specified
Sitosterolemia
Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636557

rs_72796720

11 SubmittersRCV000286899 RCV000972441 RCV001139041 RCV001582908 RCV002365308

NM_022436.3(ABCG5):c.408C>T (p.Asp136=)

SNV
Germline

Chr2:43831862

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Sitosterolemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10604768

rs_141386201

3 SubmittersRCV002321953 RCV002519150 RCV000280097

NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)

SNV
Germline

Chr2:43828024

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Sitosterolemia
Sitosterolemia 1
Sitosterolemia 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636599

rs_141828689

12 SubmittersRCV000286622 RCV000658134 RCV000986627 RCV001141655 RCV003137889 RCV003298337

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_022436.3(ABCG5):c.50T>G (p.Val17Gly)

SNV
Germline

Chr2:43838630

Conflicting classifications of pathogenicity

not specified
Sitosterolemia
ABCG5-related disorder
Sitosterolemia 2

Criteria Provided
Conflicting Classifications

CA1636811

rs_72542427

5 SubmittersRCV000393828 RCV000892629 RCV003909988 RCV003137895

NM_022436.3(ABCG5):c.834G>A (p.Ala278=)

SNV
Germline

Chr2:43824959

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Sitosterolemia

Criteria Provided
Conflicting Classifications

CA1636492

rs_373182673

3 SubmittersRCV000355005 RCV002436118 RCV002519266

NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)

SNV
Germline

Chr2:43872105

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1

Criteria Provided
Conflicting Classifications

CA1637275

rs_140778634

4 SubmittersRCV000303441 RCV001143675

NM_022437.3(ABCG8):c.1756+6G>A

SNV
Germline

Chr2:43875419

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

CA1637619

rs_375563605

4 SubmittersRCV000279671 RCV003137896 RCV003949895

NM_022436.3(ABCG5):c.265+10G>A

SNV
Germline

Chr2:43837824

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia

Criteria Provided
Conflicting Classifications

CA1636732

rs_140341571

2 SubmittersRCV000285579 RCV001424239

NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)

SNV
Germline

Chr2:43877815

Conflicting classifications of pathogenicity

Sitosterolemia 1
Condition: not provided
Abnormal bleeding
Thrombocytopenia
Cardiovascular phenotype
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

CA1637726

rs_113005049

9 SubmittersRCV000340091 RCV000395773 RCV001270619 RCV002411167 RCV003897633

NM_022437.3(ABCG8):c.870C>T (p.Thr290=)

SNV
Germline

Chr2:43852774

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1
not specified
Cardiovascular phenotype
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

CA1637187

rs_117221284

7 SubmittersRCV000345893 RCV001143674 RCV003330625 RCV002374478 RCV003967781

NM_022437.3(ABCG8):c.1941C>G (p.Val647=)

SNV
Germline

Chr2:43877832

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Sitosterolemia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1637728

rs_147991100

8 SubmittersRCV000342751 RCV001699284 RCV000403108 RCV002411170

NM_022436.3(ABCG5):c.957C>T (p.Ser319=)

SNV
Germline

Chr2:43824380

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
not specified
Cardiovascular phenotype
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

CA1636433

rs_146131711

8 SubmittersRCV000384289 RCV001078882 RCV001820836 RCV002379150 RCV003967794

NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)

SNV
Germline

Chr2:43832056

Conflicting classifications of pathogenicity

not specified
Sitosterolemia
Condition: not provided
Sitosterolemia 1
Hyperuricemic nephropathy, familial juvenile type 4
Cardiovascular phenotype
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

CA1636713

rs_145164937

10 SubmittersRCV000376941 RCV001086479 RCV000766455 RCV001141660 RCV001836763 RCV002436125 RCV003920159

NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)

SNV
Germline

Chr2:43828106

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
ABCG5-related disorder
Sitosterolemia

Criteria Provided
Conflicting Classifications

CA1636623

rs_777411661

5 SubmittersRCV000386077 RCV001141657 RCV002348023 RCV003897651 RCV002519332

NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)

SNV
Germline

Chr2:43822814

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

CA1636276

rs_886044572

3 SubmittersRCV000350093 RCV002059303 RCV003949956

NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)

SNV
Germline

Chr2:43814495

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1
ABCG5-related disorder
Sitosterolemia
Sitosterolemia 2

Criteria Provided
Conflicting Classifications

CA1636181

rs_144973796

9 SubmittersRCV000263615 RCV000367922 RCV003920170 RCV002059307 RCV002467723

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

Criteria Provided
Conflicting Classifications

CA1637156

rs_34754243

11 SubmittersRCV000262892 RCV000318546 RCV001094726 RCV002494900 RCV002365329 RCV003949962

NM_022436.3(ABCG5):c.804C>T (p.Phe268=)

SNV
Germline

Chr2:43824989

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1
Cardiovascular phenotype
Sitosterolemia

Criteria Provided
Conflicting Classifications

CA1636500

rs_554183818

4 SubmittersRCV000383896 RCV001139040 RCV002418139 RCV003505103

NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)

SNV
Germline

Chr2:43824074

Conflicting classifications of pathogenicity

Sitosterolemia 1
Sitosterolemia
Cardiovascular phenotype
Sitosterolemia 2
Condition: not provided
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

CA1636380

rs_149418765

7 SubmittersRCV000290288 RCV001209660 RCV002323543 RCV003137963 RCV003480606 RCV003922453

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

5 SubmittersRCV000271754 RCV000729735 RCV002450907 RCV003932335

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

Criteria Provided
Conflicting Classifications

CA1637467

rs_775837092

2 SubmittersRCV000360299 RCV002392899

NM_022437.3(ABCG8):c.1569A>G (p.Pro523=)

SNV
Germline

Chr2:43875226

Conflicting classifications of pathogenicity

Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1637547

rs_575386215

3 SubmittersRCV000262266 RCV002057699 RCV002402062

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

8 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

5 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_022436.3(ABCG5):c.*285G>C

SNV
Germline

Chr2:43812831

Conflicting classifications of pathogenicity

Sitosterolemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615225

rs_114868704

3 SubmittersRCV000298190 RCV001556599

NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)

SNV
Germline

Chr2:43824990

Conflicting classifications of pathogenicity

Sitosterolemia 1
not specified
Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636501

rs_770103215

4 SubmittersRCV000395583 RCV003330644 RCV003505106 RCV002411230

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
ABCG8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1637285

rs_554680915

5 SubmittersRCV000333238 RCV000595016 RCV002436203 RCV003950162 RCV002519974

NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)

SNV
Germline

Chr2:43819995

Conflicting classifications of pathogenicity

Sitosterolemia 1
Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636228

rs_376969021

3 SubmittersRCV000273431 RCV002057696 RCV002402060

NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)

SNV
Germline

Chr2:43822849

Conflicting classifications of pathogenicity

Sitosterolemia 1
Sitosterolemia
ABCG5-related disorder
Sitosterolemia 2

Criteria Provided
Conflicting Classifications

CA1636285

rs_143402711

4 SubmittersRCV000333591 RCV001497092 RCV003957735 RCV003227742

NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)

SNV
Germline

Chr2:43822895

Conflicting classifications of pathogenicity

Sitosterolemia
Sitosterolemia 1
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636294

rs_141016088

7 SubmittersRCV000388056 RCV001094751 RCV000598247 RCV001729549 RCV002379229

NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)

SNV
Germline

Chr2:43824057

Conflicting classifications of pathogenicity

Sitosterolemia 1
Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636374

rs_771802286

3 SubmittersRCV000384440 RCV002519970 RCV002338935

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

Criteria Provided
Conflicting Classifications

CA1637546

rs_558635043

6 SubmittersRCV000357070 RCV001699467 RCV002402061

NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)

SNV
Germline

Chr2:43823986

Conflicting classifications of pathogenicity

not specified
Sitosterolemia
Condition: not provided
Sitosterolemia 1
ABCG5-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636353

rs_146801512

8 SubmittersRCV000591881 RCV000907220 RCV001551376 RCV001136801 RCV003962663 RCV002413671

NM_022437.3(ABCG8):c.576C>T (p.Ile192=)

SNV
Germline

Chr2:43852368

Conflicting classifications of pathogenicity

not specified
Sitosterolemia 1
Condition: not provided
Cardiovascular phenotype
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

CA1637076

rs_148058949

7 SubmittersRCV000596127 RCV001139257 RCV000907221 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

Criteria Provided
Conflicting Classifications

CA1637422

rs_201991639

3 SubmittersRCV000596342 RCV003227803

NM_022436.3(ABCG5):c.1602G>C (p.Val534=)

SNV
Germline

Chr2:43819962

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Sitosterolemia

Criteria Provided
Conflicting Classifications

CA425757978

rs_1280735521

3 SubmittersRCV000591280 RCV004024718 RCV002531002

NM_022436.3(ABCG5):c.780T>C (p.Phe260=)

SNV
Germline

Chr2:43825013

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1636507

rs_765847597

3 SubmittersRCV000595218 RCV001462661 RCV002413676

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

Criteria Provided
Conflicting Classifications

CA1637390

rs_147194762

7 SubmittersRCV000596406 RCV001137121 RCV003330815 RCV003952976

NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)

SNV
Germline

Chr2:43875265

Pathogenic

Condition: not provided
Sitosterolemia 1
ABCG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA46471077

rs_544500542

4 SubmittersRCV000594048 RCV002280880 RCV003420036

NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr2:43872255

Conflicting classifications of pathogenicity

Condition: not provided
Gallbladder disease 4
Sitosterolemia
Cardiovascular phenotype
Sitosterolemia 1
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

CA1637324

rs_150654176

10 SubmittersRCV000596299 RCV000764410 RCV002358659 RCV003139895 RCV003905542

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_022436.3(ABCG5):c.1398C>T (p.Ala466=)

SNV
Germline

Chr2:43822862

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
ABCG5-related disorder
Sitosterolemia

Criteria Provided
Conflicting Classifications

CA1636289

rs_373514009

4 SubmittersRCV000595762 RCV002395531 RCV003927930 RCV003611522

NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)

SNV
Germline

Chr2:43844540

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

CA1636887

rs_148456883

8 SubmittersRCV000591513 RCV001336053 RCV002384302 RCV001821728 RCV002506425 RCV003952984

NM_022436.3(ABCG5):c.510C>T (p.Ala170=)

SNV
Germline

Chr2:43828107

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
Cardiovascular phenotype
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

CA1636624

rs_147061424

4 SubmittersRCV000594544 RCV001455111 RCV002341530 RCV003962711

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

6 SubmittersRCV000593013 RCV003139898 RCV003323628 RCV004024818

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_022436.3(ABCG5):c.1567A>G (p.Ile523Val)

SNV
Germline

Chr2:43819997

Conflicting classifications of pathogenicity

not specified
Sitosterolemia 1
Sitosterolemia
Condition: not provided
Cardiovascular phenotype
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

CA1636229

rs_140899003

10 SubmittersRCV000595235 RCV001143372 RCV001521409 RCV001584407 RCV002404614 RCV003915740

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

rs_957176669

8 SubmittersRCV000658014 RCV001784224

NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)

SNV
Germline

Chr2:43832024

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Sitosterolemia
not specified
Sitosterolemia 2
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

rs_201889290

8 SubmittersRCV000728786 RCV002325445 RCV002535093 RCV003330923 RCV002468027 RCV003947914

NM_022436.3(ABCG5):c.300C>G (p.Ser100=)

SNV
Germline

Chr2:43832049

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1212418813

3 SubmittersRCV000728787 RCV002535094 RCV002440567

NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)

SNV
Germline

Chr2:43813266

Conflicting classifications of pathogenicity

not specified
Sitosterolemia 1
Sitosterolemia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_150716811

7 SubmittersRCV000728857 RCV001141537 RCV000958290 RCV001709687 RCV002406661

NM_022436.3(ABCG5):c.828G>A (p.Thr276=)

SNV
Germline

Chr2:43824965

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
ABCG5-related disorder
Sitosterolemia

Criteria Provided
Conflicting Classifications

rs_539178581

4 SubmittersRCV000729310 RCV002424742 RCV003892615 RCV002535115

NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)

SNV
Germline

Chr2:43823926

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_575266356

3 SubmittersRCV000729467 RCV002067096 RCV002386294

NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)

SNV
Germline

Chr2:43839115

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Sitosterolemia 1
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

rs_144411000

5 SubmittersRCV000729605 RCV002360851 RCV003492156 RCV003411672

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

rs_373560827

5 SubmittersRCV000730098 RCV001137122 RCV002386297 RCV003965520

NM_022436.3(ABCG5):c.282G>A (p.Thr94=)

SNV
Germline

Chr2:43832067

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_756339433

4 SubmittersRCV000730751 RCV002535168 RCV003323705 RCV004026996

NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)

SNV
Germline

Chr2:43877643

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Sitosterolemia 1

Criteria Provided
Conflicting Classifications

rs_147582834

5 SubmittersRCV000730825 RCV001816800 RCV002406665 RCV001143788

NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)

SNV
Germline

Chr2:43838541

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 2
Sitosterolemia
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_72542426

5 SubmittersRCV000731084 RCV002280885 RCV001855650 RCV003330928 RCV004027001

NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)

SNV
Germline

Chr2:43875324

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1
Gallbladder disease 4
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder

Criteria Provided
Conflicting Classifications

rs_548098742

8 SubmittersRCV000731839 RCV002245631 RCV002507299 RCV003165977 RCV003965531

NM_022436.3(ABCG5):c.915G>A (p.Thr305=)

SNV
Germline

Chr2:43824422

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
Cardiovascular phenotype
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

rs_773296588

4 SubmittersRCV000732701 RCV001401108 RCV002369999 RCV003396306

NM_022437.3(ABCG8):c.578C>T (p.Ala193Val)

SNV
Germline

Chr2:43852370

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1

Criteria Provided
Conflicting Classifications

rs_376362072

3 SubmittersRCV000732928 RCV001139258

NM_022436.3(ABCG5):c.99G>A (p.Pro33=)

SNV
Germline

Chr2:43838581

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_149907931

4 SubmittersRCV000733189 RCV003323707 RCV002067146 RCV002386306

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

rs_369736263

5 SubmittersRCV000733393 RCV001141977 RCV002388372 RCV003947953

NM_022436.3(ABCG5):c.550C>T (p.Leu184=)

SNV
Germline

Chr2:43828067

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
Cardiovascular phenotype
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

rs_762951266

4 SubmittersRCV000733583 RCV002535339 RCV003165992 RCV003938123

NM_022436.3(ABCG5):c.442C>T (p.Leu148=)

SNV
Germline

Chr2:43831828

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1
Sitosterolemia
Cardiovascular phenotype
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

rs_143444046

5 SubmittersRCV000734052 RCV001141659 RCV001523024 RCV002332533 RCV003955474

NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)

SNV
Germline

Chr2:43820064

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

rs_767584159

3 SubmittersRCV000735033 RCV002535413 RCV003975294

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

Criteria Provided
Conflicting Classifications

rs_150977210

3 SubmittersRCV000885112 RCV003141888 RCV003948358

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

Criteria Provided
Conflicting Classifications

rs_371163697

6 SubmittersRCV000888273 RCV001139359 RCV002390870 RCV003948394

NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser)

SNV
Germline

Chr2:43822894

Conflicting classifications of pathogenicity

Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200378113

2 SubmittersRCV000901064 RCV002382052

NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter)

SNV
Germline

Chr2:43822886

Pathogenic/Likely pathogenic

Condition: not provided
Sitosterolemia 2
Sitosterolemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558738919

3 SubmittersRCV000997120 RCV001534613 RCV003611543

NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)

SNV
Germline

Chr2:43822923

Conflicting classifications of pathogenicity

Sitosterolemia
Sitosterolemia 2

Criteria Provided
Conflicting Classifications

rs_536081800

2 SubmittersRCV001046676 RCV002468121

NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)

SNV
Germline

Chr2:43852626

Conflicting classifications of pathogenicity

Condition: not provided
Sitosterolemia 1

Criteria Provided
Conflicting Classifications

rs_547583131

5 SubmittersRCV001092627 RCV003142039

NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)

SNV
Germline

Chr2:43838541

Conflicting classifications of pathogenicity

Sitosterolemia 1
Sitosterolemia
Sitosterolemia 2
Condition: not provided
Cardiovascular phenotype
not specified
ABCG5-related disorder

Criteria Provided
Conflicting Classifications

rs_72542426

7 SubmittersRCV001136896 RCV001512079 RCV002468177 RCV002261289 RCV003293896 RCV003331050 RCV003938487

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

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

Criteria Provided
Conflicting Classifications

rs_771060960

2 SubmittersRCV001137000 RCV002436718

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

rs_929726147

2 SubmittersRCV001143673 RCV002411646

NM_022436.3(ABCG5):c.1118+13C>G

SNV
Germline

Chr2:43824206

Conflicting classifications of pathogenicity

Sitosterolemia 1
Sitosterolemia

Criteria Provided
Conflicting Classifications

rs_371609600

2 SubmittersRCV001136804 RCV001856744

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

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

rs_777435511

2 SubmittersRCV001141879 RCV002070700

NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter)

SNV
Germline

Chr2:43852808

Pathogenic

Sitosterolemia 1

No Assertion Criteria Provided

rs_1668974150

1 SubmittersRCV001248858

NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter)

SNV
Germline

Chr2:43813186

Pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

rs_772295351

1 SubmittersRCV002659647

NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)

SNV
Germline

Chr2:43824423

Pathogenic/Likely pathogenic

Sitosterolemia
Sitosterolemia 2
Sitosterolemia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_143740796

2 SubmittersRCV001350898 RCV002280904 RCV002245972

NM_022436.3(ABCG5):c.634+1G>A

SNV
Germline

Chr2:43827982

Likely pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

rs_370368811

1 SubmittersRCV001379567

NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr2:43826405

Pathogenic

Sitosterolemia
Sitosterolemia 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_140111105

4 SubmittersRCV001449803 RCV002466677 RCV004038481

NM_022436.3(ABCG5):c.-76C>T

SNV
Germline

Chr2:43838755

Conflicting classifications of pathogenicity

Sitosterolemia
Sitosterolemia 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_560839317

3 SubmittersRCV001779417 RCV003447602 RCV004040790

NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp)

SNV
Germline

Chr2:43824009

Conflicting classifications of pathogenicity

Sitosterolemia
Cardiovascular phenotype
Sitosterolemia 2

Criteria Provided
Conflicting Classifications

rs_115590670

3 SubmittersRCV002012506 RCV003170455 RCV003138018

NM_022437.3(ABCG8):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:43839055

Likely pathogenic

Condition: not provided
Sitosterolemia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_538699999

2 SubmittersRCV002224309 RCV002466278

NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter)

SNV
Unknown

Chr2:43852785

Pathogenic

Sitosterolemia 1

No Assertion Criteria Provided

rs_762279471

1 SubmittersRCV002245433

NM_022437.3(ABCG8):c.562-1G>A

SNV
Germline

Chr2:43852353

Likely pathogenic

Sitosterolemia 1

Criteria Provided
Single Submitter

rs_1317214046

1 SubmittersRCV002272663

NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter)

SNV
Germline

Chr2:43875409

Pathogenic

Sitosterolemia 1

Criteria Provided
Single Submitter

rs_754182905

1 SubmittersRCV002272852

NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)

SNV
Germline

Chr2:43823926

Likely pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

1 SubmittersRCV002634369

NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr2:43828070

Pathogenic

Sitosterolemia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003122695 RCV003162174

NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter)

SNV
Germline

Chr2:43814582

Pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

1 SubmittersRCV002578084

NM_022436.3(ABCG5):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr2:43819991

Pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

1 SubmittersRCV002875983

NM_022437.3(ABCG8):c.1756+2T>A

SNV
Germline

Chr2:43875415

Pathogenic

Sitosterolemia 1

Criteria Provided
Single Submitter

1 SubmittersRCV003141367

NM_022436.3(ABCG5):c.833C>T (p.Ala278Val)

SNV
Germline

Chr2:43824960

Conflicting classifications of pathogenicity

Sitosterolemia 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003492848 RCV004255393

NM_022436.3(ABCG5):c.1763-1G>A

SNV
Germline

Chr2:43813310

Pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

1 SubmittersRCV003506210

NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter)

SNV
Germline

Chr2:43831982

Pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

1 SubmittersRCV003506686

NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter)

SNV
Germline

Chr2:43823964

Pathogenic

Sitosterolemia

Criteria Provided
Single Submitter

1 SubmittersRCV003611425