Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)	SNV Germline	Chr9:104806276	Pathogenic	Tangier disease ABCA1-related disorder	Criteria Provided Single Submitter	CA120477	rs_137854494	2 SubmittersRCV000010091 RCV004532322
NM_005502.4(ABCA1):c.3738+1G>C	SNV Germline	Chr9:104816142	Pathogenic	Tangier disease	No Assertion Criteria Provided	CA212915	rs_796051872	1 SubmittersRCV000010092
NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg)	SNV Germline	Chr9:104831027	Pathogenic	Tangier disease	No Assertion Criteria Provided	CA120478	rs_2853578	1 SubmittersRCV000010093
NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser)	SNV Germline	Chr9:104822520	Pathogenic	Tangier disease Condition: not provided	Criteria Provided Single Submitter	CA212916	rs_28937313	2 SubmittersRCV000010096 RCV001851780
NM_005502.4(ABCA1):c.2810C>T (p.Ala937Val)	SNV Germline	Chr9:104822514	Pathogenic	Tangier disease	No Assertion Criteria Provided	CA120482	rs_137854495	1 SubmittersRCV000010097
NM_005502.4(ABCA1):c.6241C>T (p.Arg2081Trp)	SNV Germline	Chr9:104786940	Pathogenic	Tangier disease	No Assertion Criteria Provided	CA120485	rs_137854501	1 SubmittersRCV000010102
NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu)	SNV Germline	Chr9:104804668	Pathogenic	Tangier disease	No Assertion Criteria Provided	CA120486	rs_137854497	1 SubmittersRCV000010104
NM_005502.4(ABCA1):c.2803A>C (p.Asn935His)	SNV Germline	Chr9:104822521	Pathogenic	Tangier disease	No Assertion Criteria Provided	CA120487	rs_28937314	1 SubmittersRCV000010106
NM_005502.4(ABCA1):c.5038C>T (p.Arg1680Trp)	SNV Germline	Chr9:104798504	Pathogenic	Tangier disease, variant	No Assertion Criteria Provided	CA120488	rs_137854498	1 SubmittersRCV000010108
NM_005502.4(ABCA1):c.1719C>A (p.Tyr573Ter)	SNV Germline	Chr9:104831098	Pathogenic	Tangier disease	No Assertion Criteria Provided	CA120493	rs_137854502	1 SubmittersRCV000010113
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe)	SNV Germline	Chr9:104822664	Conflicting classifications of pathogenicity	Hypercholesterolemia, familial, 1 Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5168663	rs_187652566	5 SubmittersRCV000490356 RCV001166856 RCV001166857 RCV001753634 RCV004020581
NM_005502.4(ABCA1):c.*3087C>T	SNV Germline	Chr9:104781228	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications	CA10626112	rs_190539368	1 SubmittersRCV000272830 RCV000309274
NM_005502.4(ABCA1):c.*1260C>G	SNV Germline	Chr9:104783055	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10626134	rs_148609447	1 SubmittersRCV000307582 RCV000362311
NM_005502.4(ABCA1):c.*1218A>G	SNV Germline	Chr9:104783097	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10626140	rs_528656411	1 SubmittersRCV000276610 RCV000333964
NM_005502.4(ABCA1):c.*1211G>A	SNV Germline	Chr9:104783104	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10626141	rs_547220092	1 SubmittersRCV000275337 RCV000386118
NM_005502.4(ABCA1):c.*368A>G	SNV Germline	Chr9:104783947	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10626151	rs_13306080	1 SubmittersRCV000260728 RCV000371556
NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser)	SNV Germline	Chr9:104809545	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA5168206	rs_538614702	3 SubmittersRCV000397059 RCV000350460 RCV002328885 RCV003718227
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)	SNV Germline	Chr9:104816337	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5168396	rs_143180998	4 SubmittersRCV000336016 RCV000404479 RCV000779670 RCV001093094
NM_005502.4(ABCA1):c.360C>T (p.Thr120=)	SNV Germline	Chr9:104883100	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5169416	rs_771661583	2 SubmittersRCV000262782 RCV000320786 RCV002450940
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)	SNV Germline	Chr9:104884475	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5169461	rs_145183203	7 SubmittersRCV000288931 RCV000346255 RCV001490534 RCV002282127
NM_005502.4(ABCA1):c.*2089G>A	SNV Germline	Chr9:104782226	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10628644	rs_146353431	1 SubmittersRCV000261075 RCV000316269
NM_005502.4(ABCA1):c.*1768T>A	SNV Germline	Chr9:104782547	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10628645	rs_535255845	1 SubmittersRCV000398636 RCV000350677
NM_005502.4(ABCA1):c.*1767G>T	SNV Germline	Chr9:104782548	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10628646	rs_547281385	1 SubmittersRCV000311005 RCV000356434
NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg)	SNV Germline	Chr9:104787940	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified	Criteria Provided Conflicting Classifications	CA5167616	rs_752051518	2 SubmittersRCV000289593 RCV000332879 RCV003155173
NM_005502.4(ABCA1):c.5757+12C>T	SNV Germline	Chr9:104792774	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5167746	rs_769533549	3 SubmittersRCV000268941 RCV000326398 RCV002523709 RCV003330654
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=)	SNV Germline	Chr9:104796059	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA5167874	rs_13306077	6 SubmittersRCV000279665 RCV000341656 RCV001584093 RCV002348117 RCV001731637
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)	SNV Germline	Chr9:104798503	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5167954	rs_150125857	4 SubmittersRCV000340403 RCV000396628 RCV000590457
NM_005502.4(ABCA1):c.5019C>T (p.Val1673=)	SNV Germline	Chr9:104798523	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5167958	rs_371136175	3 SubmittersRCV000274093 RCV000370863 RCV002058752 RCV002338953
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)	SNV Germline	Chr9:104832597	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA5169008	rs_147675550	5 SubmittersRCV000280068 RCV000335034 RCV000588564 RCV002392922 RCV004579544
NM_005502.4(ABCA1):c.*2907A>C	SNV Germline	Chr9:104781408	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10631899	rs_551547276	1 SubmittersRCV000275609 RCV000330731
NM_005502.4(ABCA1):c.*2611A>G	SNV Germline	Chr9:104781704	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10631901	rs_572043133	1 SubmittersRCV000301632 RCV000396129
NM_005502.4(ABCA1):c.*19G>T	SNV Germline	Chr9:104784296	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA5167459	rs_368288959	1 SubmittersRCV000357285 RCV000390293
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)	SNV Germline	Chr9:104791982	Conflicting classifications of pathogenicity	Tangier disease Condition: not provided Hypoalphalipoproteinemia, primary, 1 not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5167727	rs_142688906	7 SubmittersRCV000361601 RCV001522662 RCV000398410 RCV000779673 RCV002356492
NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=)	SNV Germline	Chr9:104816155	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5168362	rs_548468204	2 SubmittersRCV000328802 RCV000383280 RCV002058755
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=)	SNV Germline	Chr9:104819931	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 not specified Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA5168557	rs_144726669	4 SubmittersRCV000278823 RCV000320032 RCV001192762 RCV002323567 RCV002058757
NM_005502.4(ABCA1):c.*2486T>C	SNV Germline	Chr9:104781829	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10631958	rs_539455164	1 SubmittersRCV000347275 RCV000401483
NM_005502.4(ABCA1):c.*2409T>C	SNV Germline	Chr9:104781906	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications	CA10631959	rs_557529420	1 SubmittersRCV000277736 RCV000314060
NM_005502.4(ABCA1):c.1996C>T (p.Arg666Trp)	SNV Germline	Chr9:104829035	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications	CA5168846	rs_201599169	1 SubmittersRCV000265669 RCV000355736
NM_005502.4(ABCA1):c.302+15A>T	SNV Germline	Chr9:104884412	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA5169453	rs_200532064	1 SubmittersRCV000324280 RCV000381019
NM_005502.4(ABCA1):c.*1476A>G	SNV Germline	Chr9:104782839	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA10631999	rs_537176920	1 SubmittersRCV000289190 RCV000383638
NM_005502.4(ABCA1):c.4161G>A (p.Gln1387=)	SNV Germline	Chr9:104810814	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5168231	rs_200409979	3 SubmittersRCV000315407 RCV000351461 RCV003766095 RCV002328886
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)	SNV Germline	Chr9:104816339	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5168397	rs_76881554	6 SubmittersRCV000282087 RCV000337098 RCV001526897 RCV001490048 RCV002338955
NM_005502.4(ABCA1):c.3286G>A (p.Val1096Ile)	SNV Germline	Chr9:104818839	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5168472	rs_13306073	2 SubmittersRCV000271776 RCV000331552 RCV002058756
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly)	SNV Germline	Chr9:104819977	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5168562	rs_140365800	5 SubmittersRCV000284909 RCV000374682 RCV001192758 RCV001662347
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)	SNV Germline	Chr9:104826965	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided not specified Hypoalphalipoproteinemia, primary, 1 Tangier disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5168766	rs_35819696	8 SubmittersRCV000263472 RCV000318710 RCV000590520 RCV001700361 RCV002467766 RCV002446622
NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=)	SNV Germline	Chr9:104827002	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA5168773	rs_201076284	3 SubmittersRCV000289329 RCV000344342 RCV002446624 RCV002058759
NM_005502.4(ABCA1):c.2196G>A (p.Gln732=)	SNV Germline	Chr9:104827089	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA5168787	rs_187695583	3 SubmittersRCV000293614 RCV000383380 RCV002429329 RCV002523710
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=)	SNV Germline	Chr9:104831101	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5168917	rs_143299210	5 SubmittersRCV000272587 RCV000328019 RCV000779672 RCV001836807 RCV003168573
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)	SNV Germline	Chr9:104837095	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided not specified Cardiovascular phenotype Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA5169077	rs_9282543	10 SubmittersRCV000300129 RCV000404525 RCV000594571 RCV000779671 RCV002338956 RCV002467767
NM_005502.4(ABCA1):c.664C>T (p.Leu222=)	SNV Germline	Chr9:104858578	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA5169326	rs_778130619	1 SubmittersRCV000345593 RCV000398076
NM_005502.4(ABCA1):c.497A>G (p.Lys166Arg)	SNV Germline	Chr9:104861725	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications	CA5169375	rs_377248142	1 SubmittersRCV000259304 RCV000370661
NM_005502.4(ABCA1):c.161-12C>G	SNV Germline	Chr9:104884580	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided	Criteria Provided Conflicting Classifications	CA5169469	rs_201555773	2 SubmittersRCV000294007 RCV000405219 RCV002523711
NM_005502.4(ABCA1):c.99A>G (p.Leu33=)	SNV Germline	Chr9:104889163	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5169493	rs_141151519	5 SubmittersRCV000351215 RCV000390639 RCV000999195 RCV002222496 RCV002379250
NM_005502.4(ABCA1):c.-26A>C	SNV Germline	Chr9:104903705	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications	CA5169530	rs_199976989	1 SubmittersRCV000266023 RCV000358327
NM_005502.4(ABCA1):c.-205G>T	SNV Germline	Chr9:104928047	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications	CA10632104	rs_78086474	1 SubmittersRCV000302583 RCV000340789
NM_005502.4(ABCA1):c.2803A>G (p.Asn935Asp)	SNV Germline	Chr9:104822521	Likely pathogenic	Tangier disease	No Assertion Criteria Provided	CA16043668	rs_28937314	1 SubmittersRCV000415392
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)	SNV Germline	Chr9:104812587	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications	CA5168267	rs_762770081	5 SubmittersRCV000622845 RCV001509358 RCV003336095
NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys)	SNV Germline	Chr9:104796354	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified	Criteria Provided Conflicting Classifications		rs_760507032	2 SubmittersRCV000778869 RCV001166176 RCV003330947
NM_005502.4(ABCA1):c.*1790C>T	SNV Germline	Chr9:104782525	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_76321849	1 SubmittersRCV001168830 RCV001165937
NM_005502.4(ABCA1):c.*1154C>A	SNV Germline	Chr9:104783161	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_186900352	1 SubmittersRCV001166000 RCV001165999
NM_005502.4(ABCA1):c.*874G>A	SNV Germline	Chr9:104783441	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_569604699	1 SubmittersRCV001167570 RCV001168199
NM_005502.4(ABCA1):c.*406T>C	SNV Germline	Chr9:104783909	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications		rs_151170184	1 SubmittersRCV001168956 RCV001168955
NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val)	SNV Germline	Chr9:104788041	Conflicting classifications of pathogenicity	not specified Hypoalphalipoproteinemia, primary, 1 Tangier disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_200788099	3 SubmittersRCV001732058 RCV001166597 RCV001166598 RCV002557433
NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=)	SNV Germline	Chr9:104792894	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_148253245	3 SubmittersRCV001168341 RCV001168342 RCV002348588 RCV002068032
NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val)	SNV Germline	Chr9:104796190	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_760346286	1 SubmittersRCV001169092 RCV001166171
NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=)	SNV Germline	Chr9:104800519	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype Condition: not provided Tangier disease	Criteria Provided Conflicting Classifications		rs_9282547	3 SubmittersRCV001166666 RCV002327415 RCV003769807 RCV001166665
NM_005502.4(ABCA1):c.4320A>G (p.Pro1440=)	SNV Germline	Chr9:104806385	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_779634773	3 SubmittersRCV002557428 RCV004032884 RCV001166228 RCV001166229
NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=)	SNV Germline	Chr9:104809546	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications		rs_752528416	3 SubmittersRCV001166743 RCV001166742 RCV002327416 RCV003323802
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser)	SNV Germline	Chr9:104816327	Conflicting classifications of pathogenicity	Tangier disease Condition: not provided Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_148328750	3 SubmittersRCV001166284 RCV001497986 RCV001166285
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr)	SNV Germline	Chr9:104821432	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_776604878	3 SubmittersRCV001166341 RCV001166342 RCV001859079
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=)	SNV Germline	Chr9:104827050	Conflicting classifications of pathogenicity	Condition: not provided not specified Tangier disease Cardiovascular phenotype Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_374418354	4 SubmittersRCV002067835 RCV003331057 RCV001169335 RCV002429786 RCV001169336
NM_005502.4(ABCA1):c.1827G>A (p.Thr609=)	SNV Germline	Chr9:104830990	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype Tangier disease	Criteria Provided Conflicting Classifications		rs_1454126964	2 SubmittersRCV001166928 RCV002411659 RCV001166929
NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser)	SNV Germline	Chr9:104831642	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_754040394	1 SubmittersRCV001168644 RCV001168645
NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val)	SNV Germline	Chr9:104831701	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications		rs_13306068	1 SubmittersRCV001168647 RCV001168646
NM_005502.4(ABCA1):c.1467C>T (p.Asn489=)	SNV Germline	Chr9:104832616	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_142342160	3 SubmittersRCV001169412 RCV001169413 RCV002393379 RCV002068040
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=)	SNV Germline	Chr9:104832706	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_186911476	4 SubmittersRCV001166463 RCV001166464 RCV002067811 RCV002379666
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu)	SNV Germline	Chr9:104832745	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_148314522	5 SubmittersRCV001166466 RCV001166465 RCV001192905 RCV001414937 RCV003293913
NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln)	SNV Germline	Chr9:104837090	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_138487227	2 SubmittersRCV001166996 RCV001166997 RCV002558643
NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser)	SNV Germline	Chr9:104858691	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_141420090	2 SubmittersRCV001167054 RCV001167055 RCV003558735
NM_005502.4(ABCA1):c.6308+4C>T	SNV Germline	Chr9:104786869	Conflicting classifications of pathogenicity	Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_113077827	1 SubmittersRCV001166109 RCV001166110
NM_005502.4(ABCA1):c.4698+14C>G	SNV Germline	Chr9:104802040	Conflicting classifications of pathogenicity	not specified Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications		rs_550787183	2 SubmittersRCV001264425 RCV001168400 RCV001168401
NM_005502.4(ABCA1):c.4698+8A>G	SNV Germline	Chr9:104802046	Conflicting classifications of pathogenicity	Condition: not provided Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_1830384063	2 SubmittersRCV002558667 RCV001168402 RCV001168403
NM_005502.4(ABCA1):c.3103+3G>A	SNV Germline	Chr9:104819924	Conflicting classifications of pathogenicity	Tangier disease Condition: not provided Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_758322157	2 SubmittersRCV001169264 RCV001509359 RCV001169263
NM_005502.4(ABCA1):c.720+12T>C	SNV Germline	Chr9:104858510	Conflicting classifications of pathogenicity	Hypoalphalipoproteinemia, primary, 1 Condition: not provided Tangier disease	Criteria Provided Conflicting Classifications		rs_774118431	2 SubmittersRCV001169476 RCV002068042 RCV001169477
NM_005502.4(ABCA1):c.6599G>A (p.Arg2200Gln)	SNV Germline	Chr9:104785442	Conflicting classifications of pathogenicity	Tangier disease Condition: not provided Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified	Criteria Provided Conflicting Classifications		rs_751669145	4 SubmittersRCV001786522 RCV002074085 RCV002468312 RCV003994329
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)	SNV Germline	Chr9:104794401	Conflicting classifications of pathogenicity	Condition: not provided Hypoalphalipoproteinemia, primary, 1 Tangier disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_753324965	4 SubmittersRCV001800009 RCV002468316 RCV002343860
NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile)	SNV Germline	Chr9:104831052	Conflicting classifications of pathogenicity	Condition: not provided Tangier disease Hypoalphalipoproteinemia, primary, 1	Criteria Provided Conflicting Classifications		rs_200928212	2 SubmittersRCV001985281 RCV002468364
NM_005502.4(ABCA1):c.1390G>A (p.Val464Met)	SNV Germline	Chr9:104832693	Conflicting classifications of pathogenicity	Condition: not provided Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications		rs_563149622	2 SubmittersRCV001908727 RCV003228018
NM_005502.4(ABCA1):c.6118A>G (p.Lys2040Glu)	SNV Germline	Chr9:104788006	Conflicting classifications of pathogenicity	Condition: not provided Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Conflicting Classifications		rs_150283412	2 SubmittersRCV001876427 RCV003228006
NM_005502.4(ABCA1):c.2543-3C>T	SNV Germline	Chr9:104824581	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype not specified Hypoalphalipoproteinemia, primary, 1 Tangier disease ABCA1-related disorder	Criteria Provided Conflicting Classifications		rs_139457469	5 SubmittersRCV002171654 RCV002427712 RCV003331325 RCV003228056 RCV004543904
NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)	SNV Germline	Chr9:104840489	Likely pathogenic	Hypoalphalipoproteinemia, primary, 1 Tangier disease	Criteria Provided Single Submitter			1 SubmittersRCV002468452
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)	SNV Germline	Chr9:104816297	Conflicting classifications of pathogenicity	Condition: not provided Hypoalphalipoproteinemia, primary, 1 Tangier disease not specified	Criteria Provided Conflicting Classifications			3 SubmittersRCV002976388 RCV003336787 RCV003317635
NM_005502.4(ABCA1):c.3103+1G>C	SNV Germline	Chr9:104819926	Likely pathogenic	Tangier disease	Criteria Provided Single Submitter			1 SubmittersRCV003988302

NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)

SNV
Germline

Chr9:104806276

Pathogenic

Tangier disease
ABCA1-related disorder

Criteria Provided
Single Submitter

CA120477

rs_137854494

2 SubmittersRCV000010091 RCV004532322

NM_005502.4(ABCA1):c.3738+1G>C

SNV
Germline

Chr9:104816142

Pathogenic

Tangier disease

No Assertion Criteria Provided

CA212915

rs_796051872

1 SubmittersRCV000010092

NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg)

SNV
Germline

Chr9:104831027

Pathogenic

Tangier disease

No Assertion Criteria Provided

CA120478

rs_2853578

1 SubmittersRCV000010093

NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser)

SNV
Germline

Chr9:104822520

Pathogenic

Tangier disease
Condition: not provided

Criteria Provided
Single Submitter

CA212916

rs_28937313

2 SubmittersRCV000010096 RCV001851780

NM_005502.4(ABCA1):c.2810C>T (p.Ala937Val)

SNV
Germline

Chr9:104822514

Pathogenic

Tangier disease

No Assertion Criteria Provided

CA120482

rs_137854495

1 SubmittersRCV000010097

NM_005502.4(ABCA1):c.6241C>T (p.Arg2081Trp)

SNV
Germline

Chr9:104786940

Pathogenic

Tangier disease

No Assertion Criteria Provided

CA120485

rs_137854501

1 SubmittersRCV000010102

NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu)

SNV
Germline

Chr9:104804668

Pathogenic

Tangier disease

No Assertion Criteria Provided

CA120486

rs_137854497

1 SubmittersRCV000010104

NM_005502.4(ABCA1):c.2803A>C (p.Asn935His)

SNV
Germline

Chr9:104822521

Pathogenic

Tangier disease

No Assertion Criteria Provided

CA120487

rs_28937314

1 SubmittersRCV000010106

NM_005502.4(ABCA1):c.5038C>T (p.Arg1680Trp)

SNV
Germline

Chr9:104798504

Pathogenic

Tangier disease, variant

No Assertion Criteria Provided

CA120488

rs_137854498

1 SubmittersRCV000010108

NM_005502.4(ABCA1):c.1719C>A (p.Tyr573Ter)

SNV
Germline

Chr9:104831098

Pathogenic

Tangier disease

No Assertion Criteria Provided

CA120493

rs_137854502

1 SubmittersRCV000010113

NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe)

SNV
Germline

Chr9:104822664

Conflicting classifications of pathogenicity

Hypercholesterolemia, familial, 1
Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5168663

rs_187652566

5 SubmittersRCV000490356 RCV001166856 RCV001166857 RCV001753634 RCV004020581

NM_005502.4(ABCA1):c.*3087C>T

SNV
Germline

Chr9:104781228

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

CA10626112

rs_190539368

1 SubmittersRCV000272830 RCV000309274

NM_005502.4(ABCA1):c.*1260C>G

SNV
Germline

Chr9:104783055

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10626134

rs_148609447

1 SubmittersRCV000307582 RCV000362311

NM_005502.4(ABCA1):c.*1218A>G

SNV
Germline

Chr9:104783097

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10626140

rs_528656411

1 SubmittersRCV000276610 RCV000333964

NM_005502.4(ABCA1):c.*1211G>A

SNV
Germline

Chr9:104783104

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10626141

rs_547220092

1 SubmittersRCV000275337 RCV000386118

NM_005502.4(ABCA1):c.*368A>G

SNV
Germline

Chr9:104783947

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10626151

rs_13306080

1 SubmittersRCV000260728 RCV000371556

NM_005502.4(ABCA1):c.4195A>T (p.Thr1399Ser)

SNV
Germline

Chr9:104809545

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168206

rs_538614702

3 SubmittersRCV000397059 RCV000350460 RCV002328885 RCV003718227

NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)

SNV
Germline

Chr9:104816337

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168396

rs_143180998

4 SubmittersRCV000336016 RCV000404479 RCV000779670 RCV001093094

NM_005502.4(ABCA1):c.360C>T (p.Thr120=)

SNV
Germline

Chr9:104883100

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5169416

rs_771661583

2 SubmittersRCV000262782 RCV000320786 RCV002450940

NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)

SNV
Germline

Chr9:104884475

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5169461

rs_145183203

7 SubmittersRCV000288931 RCV000346255 RCV001490534 RCV002282127

NM_005502.4(ABCA1):c.*2089G>A

SNV
Germline

Chr9:104782226

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10628644

rs_146353431

1 SubmittersRCV000261075 RCV000316269

NM_005502.4(ABCA1):c.*1768T>A

SNV
Germline

Chr9:104782547

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10628645

rs_535255845

1 SubmittersRCV000398636 RCV000350677

NM_005502.4(ABCA1):c.*1767G>T

SNV
Germline

Chr9:104782548

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10628646

rs_547281385

1 SubmittersRCV000311005 RCV000356434

NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg)

SNV
Germline

Chr9:104787940

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified

Criteria Provided
Conflicting Classifications

CA5167616

rs_752051518

2 SubmittersRCV000289593 RCV000332879 RCV003155173

NM_005502.4(ABCA1):c.5757+12C>T

SNV
Germline

Chr9:104792774

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5167746

rs_769533549

3 SubmittersRCV000268941 RCV000326398 RCV002523709 RCV003330654

NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=)

SNV
Germline

Chr9:104796059

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA5167874

rs_13306077

6 SubmittersRCV000279665 RCV000341656 RCV001584093 RCV002348117 RCV001731637

NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)

SNV
Germline

Chr9:104798503

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5167954

rs_150125857

4 SubmittersRCV000340403 RCV000396628 RCV000590457

NM_005502.4(ABCA1):c.5019C>T (p.Val1673=)

SNV
Germline

Chr9:104798523

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5167958

rs_371136175

3 SubmittersRCV000274093 RCV000370863 RCV002058752 RCV002338953

NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)

SNV
Germline

Chr9:104832597

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA5169008

rs_147675550

5 SubmittersRCV000280068 RCV000335034 RCV000588564 RCV002392922 RCV004579544

NM_005502.4(ABCA1):c.*2907A>C

SNV
Germline

Chr9:104781408

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10631899

rs_551547276

1 SubmittersRCV000275609 RCV000330731

NM_005502.4(ABCA1):c.*2611A>G

SNV
Germline

Chr9:104781704

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10631901

rs_572043133

1 SubmittersRCV000301632 RCV000396129

NM_005502.4(ABCA1):c.*19G>T

SNV
Germline

Chr9:104784296

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA5167459

rs_368288959

1 SubmittersRCV000357285 RCV000390293

NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)

SNV
Germline

Chr9:104791982

Conflicting classifications of pathogenicity

Tangier disease
Condition: not provided
Hypoalphalipoproteinemia, primary, 1
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5167727

rs_142688906

7 SubmittersRCV000361601 RCV001522662 RCV000398410 RCV000779673 RCV002356492

NM_005502.4(ABCA1):c.3726G>A (p.Thr1242=)

SNV
Germline

Chr9:104816155

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168362

rs_548468204

2 SubmittersRCV000328802 RCV000383280 RCV002058755

NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=)

SNV
Germline

Chr9:104819931

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168557

rs_144726669

4 SubmittersRCV000278823 RCV000320032 RCV001192762 RCV002323567 RCV002058757

NM_005502.4(ABCA1):c.*2486T>C

SNV
Germline

Chr9:104781829

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10631958

rs_539455164

1 SubmittersRCV000347275 RCV000401483

NM_005502.4(ABCA1):c.*2409T>C

SNV
Germline

Chr9:104781906

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

CA10631959

rs_557529420

1 SubmittersRCV000277736 RCV000314060

NM_005502.4(ABCA1):c.1996C>T (p.Arg666Trp)

SNV
Germline

Chr9:104829035

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

CA5168846

rs_201599169

1 SubmittersRCV000265669 RCV000355736

NM_005502.4(ABCA1):c.302+15A>T

SNV
Germline

Chr9:104884412

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA5169453

rs_200532064

1 SubmittersRCV000324280 RCV000381019

NM_005502.4(ABCA1):c.*1476A>G

SNV
Germline

Chr9:104782839

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA10631999

rs_537176920

1 SubmittersRCV000289190 RCV000383638

NM_005502.4(ABCA1):c.4161G>A (p.Gln1387=)

SNV
Germline

Chr9:104810814

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5168231

rs_200409979

3 SubmittersRCV000315407 RCV000351461 RCV003766095 RCV002328886

NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)

SNV
Germline

Chr9:104816339

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5168397

rs_76881554

6 SubmittersRCV000282087 RCV000337098 RCV001526897 RCV001490048 RCV002338955

NM_005502.4(ABCA1):c.3286G>A (p.Val1096Ile)

SNV
Germline

Chr9:104818839

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168472

rs_13306073

2 SubmittersRCV000271776 RCV000331552 RCV002058756

NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly)

SNV
Germline

Chr9:104819977

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168562

rs_140365800

5 SubmittersRCV000284909 RCV000374682 RCV001192758 RCV001662347

NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)

SNV
Germline

Chr9:104826965

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
not specified
Hypoalphalipoproteinemia, primary, 1
Tangier disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5168766

rs_35819696

8 SubmittersRCV000263472 RCV000318710 RCV000590520 RCV001700361 RCV002467766 RCV002446622

NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=)

SNV
Germline

Chr9:104827002

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168773

rs_201076284

3 SubmittersRCV000289329 RCV000344342 RCV002446624 RCV002058759

NM_005502.4(ABCA1):c.2196G>A (p.Gln732=)

SNV
Germline

Chr9:104827089

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5168787

rs_187695583

3 SubmittersRCV000293614 RCV000383380 RCV002429329 RCV002523710

NM_005502.4(ABCA1):c.1716G>A (p.Gly572=)

SNV
Germline

Chr9:104831101

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5168917

rs_143299210

5 SubmittersRCV000272587 RCV000328019 RCV000779672 RCV001836807 RCV003168573

NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)

SNV
Germline

Chr9:104837095

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided
not specified
Cardiovascular phenotype
Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA5169077

rs_9282543

10 SubmittersRCV000300129 RCV000404525 RCV000594571 RCV000779671 RCV002338956 RCV002467767

NM_005502.4(ABCA1):c.664C>T (p.Leu222=)

SNV
Germline

Chr9:104858578

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA5169326

rs_778130619

1 SubmittersRCV000345593 RCV000398076

NM_005502.4(ABCA1):c.497A>G (p.Lys166Arg)

SNV
Germline

Chr9:104861725

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

CA5169375

rs_377248142

1 SubmittersRCV000259304 RCV000370661

NM_005502.4(ABCA1):c.161-12C>G

SNV
Germline

Chr9:104884580

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5169469

rs_201555773

2 SubmittersRCV000294007 RCV000405219 RCV002523711

NM_005502.4(ABCA1):c.99A>G (p.Leu33=)

SNV
Germline

Chr9:104889163

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5169493

rs_141151519

5 SubmittersRCV000351215 RCV000390639 RCV000999195 RCV002222496 RCV002379250

NM_005502.4(ABCA1):c.-26A>C

SNV
Germline

Chr9:104903705

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

CA5169530

rs_199976989

1 SubmittersRCV000266023 RCV000358327

NM_005502.4(ABCA1):c.-205G>T

SNV
Germline

Chr9:104928047

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

CA10632104

rs_78086474

1 SubmittersRCV000302583 RCV000340789

NM_005502.4(ABCA1):c.2803A>G (p.Asn935Asp)

SNV
Germline

Chr9:104822521

Likely pathogenic

Tangier disease

No Assertion Criteria Provided

CA16043668

rs_28937314

1 SubmittersRCV000415392

NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)

SNV
Germline

Chr9:104812587

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

CA5168267

rs_762770081

5 SubmittersRCV000622845 RCV001509358 RCV003336095

NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys)

SNV
Germline

Chr9:104796354

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified

Criteria Provided
Conflicting Classifications

rs_760507032

2 SubmittersRCV000778869 RCV001166176 RCV003330947

NM_005502.4(ABCA1):c.*1790C>T

SNV
Germline

Chr9:104782525

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_76321849

1 SubmittersRCV001168830 RCV001165937

NM_005502.4(ABCA1):c.*1154C>A

SNV
Germline

Chr9:104783161

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_186900352

1 SubmittersRCV001166000 RCV001165999

NM_005502.4(ABCA1):c.*874G>A

SNV
Germline

Chr9:104783441

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_569604699

1 SubmittersRCV001167570 RCV001168199

NM_005502.4(ABCA1):c.*406T>C

SNV
Germline

Chr9:104783909

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

rs_151170184

1 SubmittersRCV001168956 RCV001168955

NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val)

SNV
Germline

Chr9:104788041

Conflicting classifications of pathogenicity

not specified
Hypoalphalipoproteinemia, primary, 1
Tangier disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200788099

3 SubmittersRCV001732058 RCV001166597 RCV001166598 RCV002557433

NM_005502.4(ABCA1):c.5649A>G (p.Ala1883=)

SNV
Germline

Chr9:104792894

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_148253245

3 SubmittersRCV001168341 RCV001168342 RCV002348588 RCV002068032

NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val)

SNV
Germline

Chr9:104796190

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_760346286

1 SubmittersRCV001169092 RCV001166171

NM_005502.4(ABCA1):c.4764T>C (p.Asn1588=)

SNV
Germline

Chr9:104800519

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype
Condition: not provided
Tangier disease

Criteria Provided
Conflicting Classifications

rs_9282547

3 SubmittersRCV001166666 RCV002327415 RCV003769807 RCV001166665

NM_005502.4(ABCA1):c.4320A>G (p.Pro1440=)

SNV
Germline

Chr9:104806385

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_779634773

3 SubmittersRCV002557428 RCV004032884 RCV001166228 RCV001166229

NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=)

SNV
Germline

Chr9:104809546

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_752528416

3 SubmittersRCV001166743 RCV001166742 RCV002327416 RCV003323802

NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser)

SNV
Germline

Chr9:104816327

Conflicting classifications of pathogenicity

Tangier disease
Condition: not provided
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_148328750

3 SubmittersRCV001166284 RCV001497986 RCV001166285

NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr)

SNV
Germline

Chr9:104821432

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776604878

3 SubmittersRCV001166341 RCV001166342 RCV001859079

NM_005502.4(ABCA1):c.2235G>T (p.Leu745=)

SNV
Germline

Chr9:104827050

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Tangier disease
Cardiovascular phenotype
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_374418354

4 SubmittersRCV002067835 RCV003331057 RCV001169335 RCV002429786 RCV001169336

NM_005502.4(ABCA1):c.1827G>A (p.Thr609=)

SNV
Germline

Chr9:104830990

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype
Tangier disease

Criteria Provided
Conflicting Classifications

rs_1454126964

2 SubmittersRCV001166928 RCV002411659 RCV001166929

NM_005502.4(ABCA1):c.1695G>C (p.Arg565Ser)

SNV
Germline

Chr9:104831642

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_754040394

1 SubmittersRCV001168644 RCV001168645

NM_005502.4(ABCA1):c.1636A>G (p.Ile546Val)

SNV
Germline

Chr9:104831701

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

rs_13306068

1 SubmittersRCV001168647 RCV001168646

NM_005502.4(ABCA1):c.1467C>T (p.Asn489=)

SNV
Germline

Chr9:104832616

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142342160

3 SubmittersRCV001169412 RCV001169413 RCV002393379 RCV002068040

NM_005502.4(ABCA1):c.1377A>C (p.Thr459=)

SNV
Germline

Chr9:104832706

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_186911476

4 SubmittersRCV001166463 RCV001166464 RCV002067811 RCV002379666

NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu)

SNV
Germline

Chr9:104832745

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_148314522

5 SubmittersRCV001166466 RCV001166465 RCV001192905 RCV001414937 RCV003293913

NM_005502.4(ABCA1):c.1201A>C (p.Lys401Gln)

SNV
Germline

Chr9:104837090

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138487227

2 SubmittersRCV001166996 RCV001166997 RCV002558643

NM_005502.4(ABCA1):c.551T>C (p.Leu184Ser)

SNV
Germline

Chr9:104858691

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141420090

2 SubmittersRCV001167054 RCV001167055 RCV003558735

NM_005502.4(ABCA1):c.6308+4C>T

SNV
Germline

Chr9:104786869

Conflicting classifications of pathogenicity

Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_113077827

1 SubmittersRCV001166109 RCV001166110

NM_005502.4(ABCA1):c.4698+14C>G

SNV
Germline

Chr9:104802040

Conflicting classifications of pathogenicity

not specified
Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

rs_550787183

2 SubmittersRCV001264425 RCV001168400 RCV001168401

NM_005502.4(ABCA1):c.4698+8A>G

SNV
Germline

Chr9:104802046

Conflicting classifications of pathogenicity

Condition: not provided
Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_1830384063

2 SubmittersRCV002558667 RCV001168402 RCV001168403

NM_005502.4(ABCA1):c.3103+3G>A

SNV
Germline

Chr9:104819924

Conflicting classifications of pathogenicity

Tangier disease
Condition: not provided
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_758322157

2 SubmittersRCV001169264 RCV001509359 RCV001169263

NM_005502.4(ABCA1):c.720+12T>C

SNV
Germline

Chr9:104858510

Conflicting classifications of pathogenicity

Hypoalphalipoproteinemia, primary, 1
Condition: not provided
Tangier disease

Criteria Provided
Conflicting Classifications

rs_774118431

2 SubmittersRCV001169476 RCV002068042 RCV001169477

NM_005502.4(ABCA1):c.6599G>A (p.Arg2200Gln)

SNV
Germline

Chr9:104785442

Conflicting classifications of pathogenicity

Tangier disease
Condition: not provided
Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified

Criteria Provided
Conflicting Classifications

rs_751669145

4 SubmittersRCV001786522 RCV002074085 RCV002468312 RCV003994329

NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)

SNV
Germline

Chr9:104794401

Conflicting classifications of pathogenicity

Condition: not provided
Hypoalphalipoproteinemia, primary, 1
Tangier disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_753324965

4 SubmittersRCV001800009 RCV002468316 RCV002343860

NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile)

SNV
Germline

Chr9:104831052

Conflicting classifications of pathogenicity

Condition: not provided
Tangier disease
Hypoalphalipoproteinemia, primary, 1

Criteria Provided
Conflicting Classifications

rs_200928212

2 SubmittersRCV001985281 RCV002468364

NM_005502.4(ABCA1):c.1390G>A (p.Val464Met)

SNV
Germline

Chr9:104832693

Conflicting classifications of pathogenicity

Condition: not provided
Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

rs_563149622

2 SubmittersRCV001908727 RCV003228018

NM_005502.4(ABCA1):c.6118A>G (p.Lys2040Glu)

SNV
Germline

Chr9:104788006

Conflicting classifications of pathogenicity

Condition: not provided
Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Conflicting Classifications

rs_150283412

2 SubmittersRCV001876427 RCV003228006

NM_005502.4(ABCA1):c.2543-3C>T

SNV
Germline

Chr9:104824581

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Hypoalphalipoproteinemia, primary, 1
Tangier disease
ABCA1-related disorder

Criteria Provided
Conflicting Classifications

rs_139457469

5 SubmittersRCV002171654 RCV002427712 RCV003331325 RCV003228056 RCV004543904

NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter)

SNV
Germline

Chr9:104840489

Likely pathogenic

Hypoalphalipoproteinemia, primary, 1
Tangier disease

Criteria Provided
Single Submitter

1 SubmittersRCV002468452

NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)

SNV
Germline

Chr9:104816297

Conflicting classifications of pathogenicity

Condition: not provided
Hypoalphalipoproteinemia, primary, 1
Tangier disease
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002976388 RCV003336787 RCV003317635

NM_005502.4(ABCA1):c.3103+1G>C

SNV
Germline

Chr9:104819926

Likely pathogenic

Tangier disease

Criteria Provided
Single Submitter

1 SubmittersRCV003988302