Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys)	SNV Germline	ChrX:153726137	Pathogenic	Adrenoleukodystrophy	No Assertion Criteria Provided	CA278100	rs_128624213	1 SubmittersRCV000012044
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg)	SNV Germline	ChrX:153737214	Pathogenic	Adrenoleukodystrophy	No Assertion Criteria Provided	CA278101	rs_128624214	1 SubmittersRCV000012045
NM_000033.4(ABCD1):c.1635-2A>G	SNV Germline	ChrX:153740572	Pathogenic	Adrenoleukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA415112240	rs_1569541109	4 SubmittersRCV000012046 RCV003886360 RCV002399317
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)	SNV Germline	ChrX:153736195	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278102	rs_128624215	3 SubmittersRCV000012048 RCV003488335
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)	SNV Germline	ChrX:153725709	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278103	rs_128624216	4 SubmittersRCV000012049 RCV001268346
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)	SNV Germline	ChrX:153725786	Pathogenic	Adrenoleukodystrophy	No Assertion Criteria Provided	CA278104	rs_128624217	1 SubmittersRCV000012050
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	SNV Germline	ChrX:153726062	Pathogenic	Adrenoleukodystrophy X-linked spondyloepimetaphyseal dysplasia Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA278105	rs_128624218	12 SubmittersRCV000012051 RCV001358196 RCV000723479 RCV002415409
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)	SNV Germline	ChrX:153736232	Pathogenic	Adrenoleukodystrophy not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278106	rs_128624219	10 SubmittersRCV000012052 RCV001001636 RCV001781249
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	SNV Germline	ChrX:153736372	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278107	rs_128624220	8 SubmittersRCV000012053 RCV000518515
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	SNV Germline	ChrX:153736510	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278108	rs_128624221	12 SubmittersRCV000012054 RCV001781250 RCV003415686
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter)	SNV Germline	ChrX:153737192	Pathogenic	Adrenoleukodystrophy	No Assertion Criteria Provided	CA278111	rs_128624222	1 SubmittersRCV000012056
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)	SNV Germline	ChrX:153740147	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA278113	rs_128624223	2 SubmittersRCV000012057
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	SNV Germline	ChrX:153740155	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided X-linked spondyloepimetaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA278115	rs_128624224	9 SubmittersRCV000012059 RCV000723537 RCV001358358
NM_000033.4(ABCD1):c.1634+1G>A	SNV Germline	ChrX:153740238	Pathogenic	Adrenoleukodystrophy	No Assertion Criteria Provided	CA415112089	rs_1569541096	1 SubmittersRCV000012060
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	SNV Germline	ChrX:153743023	Pathogenic	Adrenoleukodystrophy Condition: not provided Primary adrenocortical insufficiency	Criteria Provided Multiple Submitters No Conflicts	CA121420	rs_128624225	9 SubmittersRCV000180094 RCV000517966 RCV000012062
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)	SNV Germline	ChrX:153743056	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278116	rs_11146842	10 SubmittersRCV000012064 RCV000723904
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	SNV Germline	ChrX:153743055	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278117	rs_4010613	11 SubmittersRCV000012065 RCV001093003
NM_000033.4(ABCD1):c.1865+1G>A	SNV Germline	ChrX:153743072	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116407	rs_1569541198	2 SubmittersRCV000012067
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)	SNV Germline	ChrX:153726166	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA519345342	rs_1569540743	2 SubmittersRCV000012068
NM_000033.4(ABCD1):c.1780+4G>A	SNV Germline	ChrX:153740723	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA278377	rs_193922095	3 SubmittersRCV000029286
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)	SNV Germline	ChrX:153725687	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278381	rs_193922097	7 SubmittersRCV000029289 RCV000723567
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	SNV Germline	ChrX:153726104	Pathogenic/Likely pathogenic	Adrenoleukodystrophy History of neurodevelopmental disorder Condition: not provided ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278382	rs_193922098	11 SubmittersRCV000029290 RCV000721083 RCV001781320 RCV003407363
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)	SNV Germline	ChrX:153737159	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278401	rs_398123100	3 SubmittersRCV000077950 RCV001063464
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)	SNV Germline	ChrX:153740156	Pathogenic	Adrenoleukodystrophy Condition: not provided ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278403	rs_398123102	13 SubmittersRCV000077955 RCV000723540 RCV004752737
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)	SNV Germline	ChrX:153740618	Pathogenic	Adrenoleukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA278408	rs_398123105	11 SubmittersRCV000077958 RCV000723625 RCV002399466
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)	SNV Germline	ChrX:153740710	Pathogenic/Likely pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278409	rs_398123106	6 SubmittersRCV000498217 RCV000808514
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)	SNV Germline	ChrX:153743008	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278410	rs_398123107	3 SubmittersRCV000077960 RCV002513814
NM_000033.4(ABCD1):c.1866-10G>A	SNV Germline	ChrX:153743211	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided Spastic paraplegia Spastic gait not specified Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA278412	rs_398123108	12 SubmittersRCV000077961 RCV000414732 RCV000626568 RCV001000924 RCV002408605
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)	SNV Germline	ChrX:153725612	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278414	rs_398123110	6 SubmittersRCV000077963 RCV002460043 RCV002513815 RCV004752738
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)	SNV Germline	ChrX:153725672	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278415	rs_398123111	2 SubmittersRCV000077964 RCV002515752
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)	SNV Germline	ChrX:153725880	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA278418	rs_398123113	4 SubmittersRCV000077967 RCV001390637
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)	SNV Germline	ChrX:153740600	Pathogenic	Condition: not provided Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278460	rs_201568579	14 SubmittersRCV000516866 RCV001203306 RCV004752757
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	SNV Germline	ChrX:153743031	Pathogenic	Adrenoleukodystrophy Condition: not provided ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278461	rs_150346282	11 SubmittersRCV000152721 RCV000723952 RCV004730887
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)	SNV Germline	ChrX:153725515	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA233411	rs_782628755	5 SubmittersRCV000152718 RCV001084845
NM_000033.4(ABCD1):c.750G>C (p.Val250=)	SNV Germline	ChrX:153726016	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA238543	rs_782196006	2 SubmittersRCV000173050 RCV002516575
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	SNV Germline	ChrX:153726153	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278493	rs_797044610	9 SubmittersRCV000173051 RCV002372080 RCV000724285
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)	SNV Germline	ChrX:153725973	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA238545	rs_201455322	10 SubmittersRCV000173052 RCV002313018 RCV000395710
NM_000033.4(ABCD1):c.1992-2A>G	SNV Germline	ChrX:153743487	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA278497	rs_797044626	3 SubmittersRCV000173621 RCV003624406
NM_000033.4(ABCD1):c.1992-15C>T	SNV Germline	ChrX:153743474	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA239085	rs_782734602	2 SubmittersRCV000173623 RCV003512020
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)	SNV Germline	ChrX:153736408	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278507	rs_797044726	4 SubmittersRCV000178024 RCV000763198
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)	SNV Germline	ChrX:153743024	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA247486	rs_140263823	6 SubmittersRCV000180096 RCV001085784 RCV002408781 RCV003895205
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn)	SNV Unknown	ChrX:153725917	Likely pathogenic	Adrenoleukodystrophy	No Assertion Criteria Provided	CA278563	rs_864309520	1 SubmittersRCV000202647
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)	SNV Germline	ChrX:153740683	Conflicting classifications of pathogenicity	not specified Adrenoleukodystrophy Condition: not provided Inborn genetic diseases ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA249150	rs_76180859	7 SubmittersRCV000202951 RCV000602068 RCV000675195 RCV002311311 RCV003977553
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)	SNV Germline	ChrX:153743022	Conflicting classifications of pathogenicity	not specified Adrenoleukodystrophy X-linked cerebral adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA249048	rs_201774661	8 SubmittersRCV000202845 RCV000354458 RCV001354702
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)	SNV Germline	ChrX:153743029	Conflicting classifications of pathogenicity	not specified Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA249262	rs_78993751	5 SubmittersRCV000203059 RCV000990979 RCV001358088
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)	SNV Germline	ChrX:153736196	Pathogenic/Likely pathogenic	Condition: not provided Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603846	rs_886044777	10 SubmittersRCV000268436 RCV000984141 RCV003391027
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)	SNV Germline	ChrX:153743255	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA10604122	rs_782041940	9 SubmittersRCV000488080 RCV000633484 RCV003401238
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)	SNV Germline	ChrX:153743343	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10606220	rs_886044882	3 SubmittersRCV000307057 RCV002463361
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)	SNV Germline	ChrX:153743541	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550393	rs_781793261	3 SubmittersRCV000323903
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)	SNV Germline	ChrX:153737191	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550218	rs_141446687	2 SubmittersRCV000312537
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)	SNV Germline	ChrX:153725795	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10654775	rs_1057516052	6 SubmittersRCV000408645 RCV001290674
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)	SNV Germline	ChrX:153725754	Pathogenic/Likely pathogenic	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16043184	rs_1057517954	6 SubmittersRCV000414525 RCV000699535 RCV002338970 RCV004730940
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)	SNV Germline	ChrX:153740185	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10550259	rs_376472029	5 SubmittersRCV000432469 RCV000766078 RCV005520277
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)	SNV Germline	ChrX:153726075	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550017	rs_781970988	3 SubmittersRCV000433948 RCV001835799
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)	SNV Germline	ChrX:153726089	Conflicting classifications of pathogenicity	Condition: not provided not specified Adrenoleukodystrophy Inborn genetic diseases ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA10550021	rs_782083931	9 SubmittersRCV000434855 RCV000507685 RCV000695726 RCV002411343 RCV003902547
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)	SNV Germline	ChrX:153725366	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10549907	rs_375019683	3 SubmittersRCV000418353 RCV001276529
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)	SNV Germline	ChrX:153743670	Conflicting classifications of pathogenicity	not specified Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550412	rs_782809184	3 SubmittersRCV000426538 RCV003488588 RCV002524859
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)	SNV Germline	ChrX:153725658	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10549949	rs_367799134	4 SubmittersRCV000681640 RCV001720188
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)	SNV Germline	ChrX:153743250	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16621227	rs_1064793877	4 SubmittersRCV000480881 RCV000853230
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	SNV Germline	ChrX:153725831	Pathogenic/Likely pathogenic	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA415099128	rs_1131691916	10 SubmittersRCV000493301 RCV000633486 RCV002350104
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	SNV Germline	ChrX:153726027	Pathogenic/Likely pathogenic	ABCD1-related disorder Condition: not provided Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA415099842	rs_1131691743	8 SubmittersRCV003392323 RCV000493818 RCV000633477 RCV002395197
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)	SNV Germline	ChrX:153726146	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415100308	rs_1131691954	6 SubmittersRCV000492856 RCV000686131
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)	SNV Germline	ChrX:153725306	Conflicting classifications of pathogenicity	not specified Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10549899	rs_781900720	6 SubmittersRCV000502342 RCV000512675 RCV001239741
NM_000033.4(ABCD1):c.54G>A (p.Thr18=)	SNV Germline	ChrX:153725320	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA10549902	rs_781855598	5 SubmittersRCV000512910 RCV001086974 RCV002350133 RCV003935340
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)	SNV Germline	ChrX:153725686	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10549951	rs_74315279	5 SubmittersRCV000513392 RCV001087539 RCV002329212
NM_000033.4(ABCD1):c.1082-1G>A	SNV Germline	ChrX:153736111	Likely pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415104345	rs_1557054153	2 SubmittersRCV000519461 RCV001377327
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)	SNV Germline	ChrX:153725577	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098597	rs_1557052302	4 SubmittersRCV000544041 RCV001580508
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)	SNV Germline	ChrX:153725708	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098863	rs_1557052362	1 SubmittersRCV000547607
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val)	SNV Germline	ChrX:153736454	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415107044	rs_1432758988	5 SubmittersRCV000557311 RCV001529574 RCV004649187
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)	SNV Germline	ChrX:153740129	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10550254	rs_782158792	5 SubmittersRCV000534849 RCV002395316 RCV003488661
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	SNV Germline	ChrX:153740711	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided Inborn genetic diseases Ehlers-Danlos syndrome, kyphoscoliotic type 1	Criteria Provided Multiple Submitters No Conflicts	CA415113345	rs_1557054873	11 SubmittersRCV000538578 RCV000675196 RCV002528315 RCV004541648
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)	SNV Germline	ChrX:153743334	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117805	rs_1557055340	1 SubmittersRCV000552581
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	SNV Germline	ChrX:153725307	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided Inborn genetic diseases ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA10549900	rs_782161942	11 SubmittersRCV000537259 RCV001508971 RCV002311848 RCV003925603
NM_000033.4(ABCD1):c.1780+2T>G	SNV Germline	ChrX:153740721	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415113455	rs_1557054875	1 SubmittersRCV000548944
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)	SNV Germline	ChrX:153725559	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098560	rs_1557052294	4 SubmittersRCV000529139 RCV001783035
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)	SNV Germline	ChrX:153725787	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415099025	rs_1557052390	7 SubmittersRCV000536329 RCV001783036
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)	SNV Germline	ChrX:153736390	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415106267	rs_1557054210	1 SubmittersRCV000532174
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)	SNV Germline	ChrX:153743495	Pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415118105	rs_1170974058	2 SubmittersRCV000541276
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu)	SNV Germline	ChrX:153743698	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10550417	rs_368462762	4 SubmittersRCV000544959 RCV002431553 RCV003128625
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)	SNV Germline	ChrX:153736231	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415105485	rs_727503786	5 SubmittersRCV000578153 RCV004701671
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)	SNV Germline	ChrX:153736381	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415106144	rs_1255903649	4 SubmittersRCV000613593 RCV001727783
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)	SNV Germline	ChrX:153743532	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118445	rs_1557055405	1 SubmittersRCV000625957
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)	SNV Germline	ChrX:153737215	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550223	rs_782546330	3 SubmittersRCV000626183
NM_000033.4(ABCD1):c.1866-1G>C	SNV Germline	ChrX:153743220	Likely pathogenic	Encephalitis Episodic vomiting Myocarditis Recurrent fever Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415116542	rs_1557055311	2 SubmittersRCV000626569 RCV001243822
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)	SNV Germline	ChrX:153726109	Pathogenic/Likely pathogenic	Condition: not provided not specified Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415100145	rs_1557052555	3 SubmittersRCV000627370 RCV001001992 RCV001800831
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)	SNV Germline	ChrX:153726005	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10550007	rs_782487174	7 SubmittersRCV000633488 RCV003139959
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)	SNV Germline	ChrX:153740170	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111462	rs_1159943880	1 SubmittersRCV000633481
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)	SNV Germline	ChrX:153743269	Conflicting classifications of pathogenicity	Adrenoleukodystrophy ABCD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10550358	rs_199723613	5 SubmittersRCV000633496 RCV003935769 RCV003432664
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)	SNV Germline	ChrX:153740135	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415111140	rs_1557054745	2 SubmittersRCV000633490 RCV003139960
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)	SNV Germline	ChrX:153740231	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415112044	rs_1557054776	7 SubmittersRCV000633485 RCV000727694
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)	SNV Germline	ChrX:153743257	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10550355	rs_141110958	5 SubmittersRCV000633497 RCV001086228 RCV002413815
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)	SNV Germline	ChrX:153740155	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111345	rs_128624224	1 SubmittersRCV000633480
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)	SNV Germline	ChrX:153743500	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118177	rs_1557055398	1 SubmittersRCV000633489
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)	SNV Germline	ChrX:153726142	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100288	rs_1557052573	1 SubmittersRCV000633492
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)	SNV Germline	ChrX:153743032	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116021	rs_1557055260	1 SubmittersRCV000633491
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)	SNV Germline	ChrX:153725966	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415099600	rs_1557052478	6 SubmittersRCV000675190 RCV001855619 RCV002360702
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)	SNV Germline	ChrX:153726022	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA337234614	rs_200849757	3 SubmittersRCV000681650
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala)	SNV Germline	ChrX:153725699	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098845	rs_1292006620	1 SubmittersRCV000693896
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)	SNV Germline	ChrX:153725720	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098891	rs_1569540693	4 SubmittersRCV000700171 RCV001288421
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)	SNV Germline	ChrX:153736156	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415104801	rs_782266592	1 SubmittersRCV000691168
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)	SNV Germline	ChrX:153743231	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415116649	rs_1557055316	8 SubmittersRCV000699538 RCV001784336
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)	SNV Germline	ChrX:153725718	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415098886	rs_1569540692	3 SubmittersRCV000689892 RCV001564691
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)	SNV Germline	ChrX:153736211	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415105323	rs_1324874967	3 SubmittersRCV000685774 RCV004649263
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)	SNV Germline	ChrX:153725848	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415099188	rs_1569540703	2 SubmittersRCV000690849 RCV003140090
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)	SNV Germline	ChrX:153740686	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided ABCD1-related disorder not specified	Criteria Provided Conflicting Classifications	CA415113133	rs_1569541120	7 SubmittersRCV000685857 RCV002267015 RCV003420213 RCV003994077
NM_000033.4(ABCD1):c.1866-1G>A	SNV Germline	ChrX:153743220	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116541	rs_1557055311	1 SubmittersRCV000704173
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)	SNV Germline	ChrX:153736126	Pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415104498	rs_1569541000	3 SubmittersRCV000710054
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	SNV Germline	ChrX:153740137	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA415111153	rs_1569541088	12 SubmittersRCV000710055 RCV000710400 RCV003392549
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	SNV Germline	ChrX:153743333	Pathogenic	Adrenoleukodystrophy Condition: not provided ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA415117798	rs_1569541203	9 SubmittersRCV000710056 RCV001268534 RCV003392550
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)	SNV Germline	ChrX:153725919	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415099421	rs_1569540710	5 SubmittersRCV000710404 RCV000787041
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)	SNV Germline	ChrX:153736357	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415105913	rs_1569541011	4 SubmittersRCV000710398 RCV001800863
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)	SNV Germline	ChrX:153737211	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA415108478	rs_1569541035	5 SubmittersRCV000710399 RCV000800638 RCV003907963
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)	SNV Germline	ChrX:153743304	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415117457	rs_1557055333	4 SubmittersRCV001772021 RCV002318878 RCV001206153
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)	SNV Germline	ChrX:153725586	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415098616	rs_1569540688	3 SubmittersRCV000722143
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)	SNV Germline	ChrX:153725790	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415099034	rs_1569540700	3 SubmittersRCV000755765 RCV001339930
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)	SNV Germline	ChrX:153726119	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA337234807	rs_782334088	4 SubmittersRCV000755767 RCV002536555 RCV004027120 RCV004702390
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)	SNV Germline	ChrX:153725346	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415097462	rs_1569540665	1 SubmittersRCV000761212
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)	SNV Germline	ChrX:153725753	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098959	rs_1569540695	5 SubmittersRCV000761213 RCV001784375
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	SNV Germline	ChrX:153725859	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415099235	rs_1569540704	7 SubmittersRCV000761214 RCV003141740
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)	SNV Germline	ChrX:153736195	Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA337239849	rs_128624215	7 SubmittersRCV000761215 RCV004588164
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)	SNV Germline	ChrX:153736216	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415105353	rs_1569541006	1 SubmittersRCV000761216
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)	SNV Germline	ChrX:153740200	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10550260	rs_781862879	9 SubmittersRCV000761217 RCV003141741 RCV002397532
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)	SNV Germline	ChrX:153743328	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117771	rs_1557055337	1 SubmittersRCV000761218
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)	SNV Germline	ChrX:153726120	Conflicting classifications of pathogenicity	Intellectual disability not specified Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550027	rs_782635828	6 SubmittersRCV000850212 RCV002249468 RCV002051891
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)	SNV Germline	ChrX:153743334	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415117801	rs_1557055340	8 SubmittersRCV000778893 RCV003457795
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)	SNV Germline	ChrX:153725474	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10549921	rs_782701925	3 SubmittersRCV000792914 RCV004958084
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)	SNV Germline	ChrX:153725612	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098668	rs_398123110	1 SubmittersRCV000824204
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)	SNV Germline	ChrX:153725774	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA10549967	rs_782293513	8 SubmittersRCV001575604 RCV000798341 RCV004753045
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)	SNV Germline	ChrX:153726095	Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415100088	rs_1603232195	3 SubmittersRCV000807408 RCV002245679
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)	SNV Germline	ChrX:153726158	Pathogenic/Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415100354	rs_1603232243	5 SubmittersRCV000824100
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)	SNV Germline	ChrX:153729250	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415100572	rs_1603233089	2 SubmittersRCV000807056 RCV003132063
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)	SNV Germline	ChrX:153737217	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108564	rs_1603234759	1 SubmittersRCV000813291
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)	SNV Germline	ChrX:153740576	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415112281	rs_1603235394	4 SubmittersRCV000822259 RCV001726340
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)	SNV Germline	ChrX:153742990	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415115616	rs_1603235901	1 SubmittersRCV000796458
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)	SNV Germline	ChrX:153743274	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117060	rs_1603236012	1 SubmittersRCV000824353
NM_000033.4(ABCD1):c.1489-1G>A	SNV Germline	ChrX:153740091	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415110712	rs_1603235263	1 SubmittersRCV000816853
NM_000033.4(ABCD1):c.1635-1G>A	SNV Germline	ChrX:153740573	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112247	rs_1603235389	1 SubmittersRCV000850151
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)	SNV Germline	ChrX:153725787	Pathogenic/Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415099024	rs_1557052390	3 SubmittersRCV000850177
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val)	SNV Germline	ChrX:153725688	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098825	rs_1603231911	3 SubmittersRCV000853228 RCV003327470
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg)	SNV Germline	ChrX:153729346	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101113	rs_1603233120	1 SubmittersRCV000853225
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter)	SNV Germline	ChrX:153736249	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415105674	rs_1603234501	1 SubmittersRCV000855404
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)	SNV Germline	ChrX:153743322	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415117728	rs_1603236020	2 SubmittersRCV000856679
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)	SNV Germline	ChrX:153726161	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550031	rs_202195978	3 SubmittersRCV000872653
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)	SNV Germline	ChrX:153725607	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098658	rs_1603231848	3 SubmittersRCV000990973 RCV003489996
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)	SNV Unknown	ChrX:153726144	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100298	rs_1603232237	1 SubmittersRCV000990975
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)	SNV Unknown	ChrX:153736174	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415104989	rs_1603234466	1 SubmittersRCV000990976
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)	SNV Germline	ChrX:153740104	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415110832	rs_1603235267	2 SubmittersRCV000990977
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)	SNV Germline	ChrX:153743046	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10550327	rs_146525445	4 SubmittersRCV000990980 RCV001838338
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)	SNV Unknown	ChrX:153743495	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118098	rs_1170974058	1 SubmittersRCV000990982
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)	SNV Germline	ChrX:153725267	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415097154	rs_2091702389	1 SubmittersRCV001055844
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)	SNV Germline	ChrX:153725708	Pathogenic/Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415098862	rs_1557052362	2 SubmittersRCV001069371
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)	SNV Germline	ChrX:153726063	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099970	rs_2091711094	1 SubmittersRCV001070251
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)	SNV Germline	ChrX:153726113	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100167	rs_782509393	1 SubmittersRCV001041848
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)	SNV Germline	ChrX:153726140	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415100277	rs_2091712008	4 SubmittersRCV001035803 RCV003141940 RCV002372745
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)	SNV Germline	ChrX:153729253	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10550055	rs_782419107	3 SubmittersRCV001054987 RCV004649434
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)	SNV Germline	ChrX:153729325	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100955	rs_2091726671	1 SubmittersRCV001036486
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)	SNV Germline	ChrX:153729359	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101160	rs_2091726809	1 SubmittersRCV001041034
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)	SNV Germline	ChrX:153736202	Pathogenic/Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415105262	rs_1557054173	3 SubmittersRCV001039824
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)	SNV Germline	ChrX:153736373	Conflicting classifications of pathogenicity	Adrenoleukodystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA337239971	rs_1046633404	4 SubmittersRCV001058584 RCV003396696 RCV004768833
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)	SNV Germline	ChrX:153740137	Conflicting classifications of pathogenicity	Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA415111151	rs_1569541088	2 SubmittersRCV001057299 RCV003396694
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)	SNV Germline	ChrX:153740234	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112066	rs_2091763089	1 SubmittersRCV001038533
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)	SNV Germline	ChrX:153740617	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112672	rs_2091764526	1 SubmittersRCV001060280
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)	SNV Germline	ChrX:153743316	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117638	rs_2091774046	1 SubmittersRCV001041737
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)	SNV Germline	ChrX:153743496	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118114	rs_2091775068	1 SubmittersRCV001048143
NM_000033.4(ABCD1):c.1081+1G>A	SNV Germline	ChrX:153729413	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101366	rs_2091727061	1 SubmittersRCV001045481
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)	SNV Germline	ChrX:153740231	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112041	rs_1557054776	2 SubmittersRCV001090088
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)	SNV Germline	ChrX:153726105	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415100129	rs_781904944	4 SubmittersRCV001090114
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)	SNV Germline	ChrX:153725474	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415098394	rs_782701925	6 SubmittersRCV001093002 RCV001245742
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)	SNV Germline	ChrX:153743499	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415118150	rs_1603236086	3 SubmittersRCV001249460
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter)	SNV Germline	ChrX:153743346	Pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415117911	rs_2091774163	2 SubmittersRCV001093621
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)	SNV Germline	ChrX:153736122	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA519217328	rs_782250326	4 SubmittersRCV001167363
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)	SNV Germline	ChrX:153740638	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10550293	rs_201114595	5 SubmittersRCV001169925 RCV003235483
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)	SNV Germline	ChrX:153729341	Conflicting classifications of pathogenicity	Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415101081	rs_2091726692	2 SubmittersRCV002320386 RCV001873591
NM_000033.4(ABCD1):c.900+2T>G	SNV Germline	ChrX:153726168	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415100410	rs_2091712381	2 SubmittersRCV001195762
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)	SNV Germline	ChrX:153725677	Pathogenic	Adrenoleukodystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098799	rs_2091706547	3 SubmittersRCV001223136 RCV002322079 RCV003132290
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)	SNV Germline	ChrX:153725925	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099442	rs_2091709142	1 SubmittersRCV001219529
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)	SNV Germline	ChrX:153729358	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101158	rs_2091726796	1 SubmittersRCV001220804
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)	SNV Germline	ChrX:153737177	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108154	rs_2091752744	1 SubmittersRCV001225015
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)	SNV Germline	ChrX:153740111	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415110897	rs_2091762267	1 SubmittersRCV001218447
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)	SNV Germline	ChrX:153740171	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415111470	rs_2091762647	4 SubmittersRCV001218702
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)	SNV Germline	ChrX:153740614	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112639	rs_2091764510	2 SubmittersRCV001223848
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)	SNV Germline	ChrX:153725844	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099173	rs_2091708534	1 SubmittersRCV001214145
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)	SNV Germline	ChrX:153725846	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099180	rs_2091708552	1 SubmittersRCV001213319
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)	SNV Germline	ChrX:153726053	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099934	rs_2091710960	1 SubmittersRCV001206383
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)	SNV Germline	ChrX:153743247	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116835	rs_2091773525	1 SubmittersRCV001204546
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)	SNV Germline	ChrX:153743503	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118206	rs_2091775127	1 SubmittersRCV001210435
NM_000033.4(ABCD1):c.1488+1G>A	SNV Germline	ChrX:153737252	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108921	rs_2091753176	1 SubmittersRCV001218118
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)	SNV Germline	ChrX:153725805	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415099067	rs_2091708150	2 SubmittersRCV001227564 RCV001815519
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)	SNV Germline	ChrX:153725927	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099447	rs_2091709198	1 SubmittersRCV001237757
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	SNV Germline	ChrX:153726105	Conflicting classifications of pathogenicity	Condition: not provided ABCD1-related disorder Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550025	rs_781904944	9 SubmittersRCV001587256 RCV003398972 RCV001226321
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)	SNV Germline	ChrX:153743028	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415115978	rs_2091772331	2 SubmittersRCV001230399 RCV003992469
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)	SNV Germline	ChrX:153743254	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415116871	rs_202125585	2 SubmittersRCV001230853 RCV003130204
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)	SNV Germline	ChrX:153725556	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098550	rs_2091705296	1 SubmittersRCV001240692
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)	SNV Germline	ChrX:153729323	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415100937	rs_1557053241	2 SubmittersRCV001250535
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)	SNV Germline	ChrX:153725745	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415098942	rs_2091707324	2 SubmittersRCV001252970
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)	SNV Germline	ChrX:153737247	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108885	rs_2091753125	1 SubmittersRCV001253465
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter)	SNV Germline	ChrX:153740707	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415113311	rs_2091765003	1 SubmittersRCV001253021
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile)	SNV Germline	ChrX:153743262	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116945	rs_2091773697	1 SubmittersRCV001253241
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)	SNV Germline	ChrX:153726117	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415100189	rs_2091711722	4 SubmittersRCV001260592 RCV003135895
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)	SNV Germline	ChrX:153725296	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415097281	rs_1304001811	2 SubmittersRCV001268905 RCV003512112
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)	SNV Germline	ChrX:153725951	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415099542	rs_2091709505	3 SubmittersRCV001289556
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)	SNV Germline	ChrX:153725589	Pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098621	rs_2091705631	3 SubmittersRCV001290134 RCV002245946
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser)	SNV Germline	ChrX:153725720	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098890	rs_1569540693	1 SubmittersRCV001290372
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)	SNV Germline	ChrX:153726096	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100097	rs_2091711473	1 SubmittersRCV001306698
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)	SNV Germline	ChrX:153743026	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415115950	rs_2091772324	3 SubmittersRCV001307498 RCV002411986
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)	SNV Germline	ChrX:153729236	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100517	rs_2091726251	1 SubmittersRCV001327376
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)	SNV Germline	ChrX:153743584	Conflicting classifications of pathogenicity	Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA10550399	rs_782157913	5 SubmittersRCV001346480 RCV003953665
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)	SNV Germline	ChrX:153725864	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099252	rs_2091708688	1 SubmittersRCV001342918
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)	SNV Germline	ChrX:153736367	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415106033	rs_2091749844	1 SubmittersRCV001340427
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)	SNV Germline	ChrX:153725910	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415099381	rs_2148389537	2 SubmittersRCV001364216
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)	SNV Germline	ChrX:153726139	Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415100275	rs_2148389975	2 SubmittersRCV001379121 RCV001780291
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)	SNV Germline	ChrX:153737205	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108452	rs_2148396070	1 SubmittersRCV001377747
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)	SNV Germline	ChrX:153726051	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415099930	rs_1204814114	3 SubmittersRCV001389361 RCV002413919 RCV003136059
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)	SNV Germline	ChrX:153729296	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100761	rs_2148391974	1 SubmittersRCV001380273
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)	SNV Germline	ChrX:153736168	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415104932	rs_782007706	1 SubmittersRCV001385753
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)	SNV Germline	ChrX:153740719	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415113428	rs_2148398002	1 SubmittersRCV001390826
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)	SNV Germline	ChrX:153743023	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415115913	rs_128624225	1 SubmittersRCV001386772
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)	SNV Germline	ChrX:153725958	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10549996	rs_782143050	2 SubmittersRCV001477275
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)	SNV Germline	ChrX:153725298	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA337233471	rs_782122122	2 SubmittersRCV001483807
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)	SNV Germline	ChrX:153725487	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098424	rs_868953385	1 SubmittersRCV001526392
NM_000033.4(ABCD1):c.900+2T>C	SNV Germline	ChrX:153726168	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100411	rs_2091712381	1 SubmittersRCV001526996
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)	SNV Germline	ChrX:153726095	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415100091	rs_1603232195	4 SubmittersRCV001553605 RCV003487477
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter)	SNV Germline	ChrX:153725748	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415098947	rs_373957035	2 SubmittersRCV001570580 RCV003512119
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)	SNV Germline	ChrX:153725295	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415097276	rs_2148388538	3 SubmittersRCV001576082 RCV002570805
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)	SNV Germline	ChrX:153726087	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA10550020	rs_781874815	5 SubmittersRCV001580620 RCV002569105 RCV004587187
NM_000033.4(ABCD1):c.901-1G>A	SNV Germline	ChrX:153729231	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415100492	rs_2148391908	4 SubmittersRCV001591534 RCV002221634
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)	SNV Germline	ChrX:153740170	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy Inborn genetic diseases ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA415111460	rs_1159943880	5 SubmittersRCV001591595 RCV001866136 RCV002569123 RCV004753375
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu)	SNV Germline	ChrX:153726051	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415099931	rs_1204814114	2 SubmittersRCV001765128 RCV003624461
NM_000033.4(ABCD1):c.268G>T (p.Glu90Ter)	SNV Germline	ChrX:153725534	Pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415098509	rs_2148388883	2 SubmittersRCV001781875 RCV005095121
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)	SNV Germline	ChrX:153725754	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098960	rs_1057517954	1 SubmittersRCV002541171
NM_000033.4(ABCD1):c.901-2A>C	SNV Germline	ChrX:153729230	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100491	rs_2148391907	1 SubmittersRCV003136152
NM_000033.4(ABCD1):c.901-2A>G	SNV Germline	ChrX:153729230	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100490	rs_2148391907	1 SubmittersRCV001885173
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)	SNV Germline	ChrX:153726113	Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415100164	rs_782509393	2 SubmittersRCV003512134 RCV001780632
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)	SNV Germline	ChrX:153725753	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415098958	rs_1569540695	2 SubmittersRCV001885174
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)	SNV Germline	ChrX:153725321	Conflicting classifications of pathogenicity	not specified Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA337233489	rs_965462099	3 SubmittersRCV001797965 RCV002541315
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)	SNV Germline	ChrX:153729262	Pathogenic/Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415100619	rs_941503814	2 SubmittersRCV001823692
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)	SNV Germline	ChrX:153725721	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098893	rs_1557052367	2 SubmittersRCV002046321 RCV003138061
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)	SNV Germline	ChrX:153726062	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415099967	rs_128624218	2 SubmittersRCV002027918 RCV003138062
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)	SNV Germline	ChrX:153740636	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112810	rs_2148397936	1 SubmittersRCV002046362
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)	SNV Germline	ChrX:153740122	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415110999	rs_2148397545	1 SubmittersRCV002040642
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)	SNV Germline	ChrX:153740618	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112678	rs_398123105	1 SubmittersRCV002017853
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)	SNV Germline	ChrX:153743246	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116809	rs_2148399209	1 SubmittersRCV002017882
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)	SNV Germline	ChrX:153725576	Pathogenic/Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098594	rs_2148388971	3 SubmittersRCV001878403 RCV002463049
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)	SNV Germline	ChrX:153743029	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415115993	rs_78993751	1 SubmittersRCV001897900
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)	SNV Germline	ChrX:153726117	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100185	rs_2091711722	1 SubmittersRCV001950801
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)	SNV Germline	ChrX:153736254	Pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA519345954	rs_2148395507	2 SubmittersRCV001970107
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter)	SNV Germline	ChrX:153740659	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112978	rs_2148397954	1 SubmittersRCV001950806
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)	SNV Germline	ChrX:153743496	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118118	rs_2091775068	1 SubmittersRCV001946695
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)	SNV Germline	ChrX:153725420	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098282	rs_2148388737	1 SubmittersRCV001902392
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)	SNV Germline	ChrX:153740616	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112665	rs_2148397922	1 SubmittersRCV001972629
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)	SNV Germline	ChrX:153725897	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415099339	rs_2148389513	2 SubmittersRCV002051048
NM_000033.4(ABCD1):c.848A>G (p.His283Arg)	SNV Germline	ChrX:153726114	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100172	rs_2148389929	1 SubmittersRCV001958819
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)	SNV Germline	ChrX:153725788	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099028	rs_2148389350	1 SubmittersRCV001874529
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)	SNV Germline	ChrX:153725556	Pathogenic/Likely pathogenic	Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA415098551	rs_2091705296	3 SubmittersRCV002009827 RCV004753460
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)	SNV Germline	ChrX:153725898	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099340	rs_2148389516	1 SubmittersRCV001951233
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)	SNV Germline	ChrX:153743548	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118560	rs_2091775375	1 SubmittersRCV002017025
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)	SNV Germline	ChrX:153740132	Pathogenic/Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415111129	rs_2148397558	2 SubmittersRCV002028139
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)	SNV Germline	ChrX:153743321	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA415117708	rs_2148399307	3 SubmittersRCV001878561 RCV003136216 RCV003401781
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)	SNV Germline	ChrX:153726026	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099838	rs_2148389772	1 SubmittersRCV001908964
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)	SNV Germline	ChrX:153740138	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111158	rs_2148397565	1 SubmittersRCV002031941
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)	SNV Germline	ChrX:153725720	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098889	rs_1569540693	1 SubmittersRCV001993926
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)	SNV Germline	ChrX:153726119	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100194	rs_782334088	1 SubmittersRCV001892058
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)	SNV Germline	ChrX:153743632	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415119135	rs_1557055447	3 SubmittersRCV001882207
NM_000033.4(ABCD1):c.901-5C>A	SNV Germline	ChrX:153729227	Likely pathogenic	Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Single Submitter	CA2573159309	rs_782603062	2 SubmittersRCV001918693 RCV003892948
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)	SNV Germline	ChrX:153740126	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111076	rs_1569541087	1 SubmittersRCV001920320
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)	SNV Germline	ChrX:153743020	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415115886	rs_2148399015	4 SubmittersRCV002237199 RCV003138105
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)	SNV Germline	ChrX:153743059	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116310	rs_2148399060	1 SubmittersRCV002248956
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)	SNV Germline	ChrX:153743235	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415116688	rs_2148399201	3 SubmittersRCV002248957 RCV005241492
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)	SNV Germline	ChrX:153743241	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116735	rs_2148399208	1 SubmittersRCV002248958
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)	SNV Germline	ChrX:153725603	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415098650	rs_1557052306	2 SubmittersRCV002249219
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)	SNV Germline	ChrX:153737162	Conflicting classifications of pathogenicity	not specified Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10550213	rs_192525493	4 SubmittersRCV002246933 RCV003094045 RCV002391377
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)	SNV Germline	ChrX:153742991	Pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415115625	rs_2148398982	2 SubmittersRCV002251033
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly)	SNV Germline	ChrX:153725297	Conflicting classifications of pathogenicity	not specified Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415097286	rs_1224689084	2 SubmittersRCV002266226 RCV003096011
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)	SNV Germline	ChrX:153725559	Likely pathogenic	Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Single Submitter	CA415098559	rs_1557052294	2 SubmittersRCV002282796 RCV004731257
NM_000033.4(ABCD1):c.1781-2A>G	SNV Germline	ChrX:153742985	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415115587	rs_2522302506	1 SubmittersRCV002290421
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)	SNV Germline	ChrX:153743008	Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415115754	rs_398123107	2 SubmittersRCV002296614 RCV005250243
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)	SNV Unknown	ChrX:153736147	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415104705	rs_368606000	1 SubmittersRCV002306822
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)	SNV Unknown	ChrX:153729406	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101339	rs_1557053259	1 SubmittersRCV002309619
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)	SNV Unknown	ChrX:153740140	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111179	rs_2522297147	1 SubmittersRCV002308396
NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)	SNV Germline	ChrX:153725649	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10549946	rs_782661286	2 SubmittersRCV003094394 RCV002355439
NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)	SNV Germline	ChrX:153725828	Conflicting classifications of pathogenicity	Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10549976	rs_782137558	2 SubmittersRCV002345072 RCV003096819
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)	SNV Germline	ChrX:153726008	Conflicting classifications of pathogenicity	Inborn genetic diseases Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10550008	rs_142058513	3 SubmittersRCV002385016 RCV003099633 RCV003138228
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)	SNV Germline	ChrX:153736349	Conflicting classifications of pathogenicity	Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550167	rs_782373145	3 SubmittersRCV002367142 RCV003103322
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)	SNV Germline	ChrX:153740150	Pathogenic/Likely pathogenic	Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415111279	rs_2522297188	2 SubmittersRCV002403288 RCV003100714
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)	SNV Germline	ChrX:153743511	Pathogenic	Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415118264	rs_2522304384	2 SubmittersRCV002417388 RCV003512178
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)	SNV Germline	ChrX:153740177	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111534	rs_2522297319	1 SubmittersRCV002468727
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)	SNV Germline	ChrX:153740131	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415111119	rs_2522297087	2 SubmittersRCV002470648
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)	SNV Germline	ChrX:153725517	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415098483	rs_2522264348	2 SubmittersRCV003138471 RCV003066398
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)	SNV Germline	ChrX:153725604	Likely pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415098653	rs_1322406234	2 SubmittersRCV003138472 RCV003066399
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)	SNV Germline	ChrX:153725735	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098924	rs_2148389233	1 SubmittersRCV003066400
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)	SNV Germline	ChrX:153725832	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy not specified ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA415099129	rs_1557052417	5 SubmittersRCV003138473 RCV003050668 RCV005059134 RCV004731318
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)	SNV Germline	ChrX:153729235	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100509	rs_2522275878	1 SubmittersRCV003066401
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)	SNV Germline	ChrX:153729347	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101119	rs_2091726726	1 SubmittersRCV003066402
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)	SNV Germline	ChrX:153736379	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415106116	rs_2091749942	1 SubmittersRCV003066403
NM_000033.4(ABCD1):c.1393+1G>A	SNV Germline	ChrX:153736514	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415107666	rs_2522289737	1 SubmittersRCV003066404
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)	SNV Germline	ChrX:153740123	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111014	rs_2522297059	1 SubmittersRCV003066405
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)	SNV Germline	ChrX:153740123	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415111031	rs_2522297059	3 SubmittersRCV003050672 RCV003138475
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)	SNV Germline	ChrX:153740173	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111484	rs_2522297303	1 SubmittersRCV003050673
NM_000033.4(ABCD1):c.1991+1G>A	SNV Germline	ChrX:153743347	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117922	rs_2522303766	1 SubmittersRCV003050674
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)	SNV Germline	ChrX:153737213	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108511	rs_2522291684	1 SubmittersRCV003078940
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)	SNV Germline	ChrX:153737204	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415108438	rs_1557054321	2 SubmittersRCV004719294 RCV003091160
NM_000033.4(ABCD1):c.371G>A (p.Arg124His)	SNV Germline	ChrX:153725637	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA415098715	rs_1557052326	2 SubmittersRCV003084182 RCV004071818
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)	SNV Germline	ChrX:153729301	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415100783	rs_2522276173	2 SubmittersRCV003089500 RCV003138507
NM_000033.4(ABCD1):c.1489-2A>G	SNV Germline	ChrX:153740090	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415110701	rs_2522296899	1 SubmittersRCV003079251
NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu)	SNV Germline	ChrX:153736241	Conflicting classifications of pathogenicity	Adrenoleukodystrophy not specified	Criteria Provided Conflicting Classifications	CA10550155	rs_782567454	2 SubmittersRCV002651272 RCV004700968
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)	SNV Germline	ChrX:153726135	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy ABCD1-related disorder	Criteria Provided Conflicting Classifications	CA415100260	rs_868934170	5 SubmittersRCV002512421 RCV002569455 RCV003418544
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)	SNV Germline	ChrX:153725409	Conflicting classifications of pathogenicity	Adrenoleukodystrophy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA337233527	rs_781803154	3 SubmittersRCV002626637 RCV003331383 RCV004656949
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)	SNV Germline	ChrX:153725940	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10549994	rs_782305445	2 SubmittersRCV002676401 RCV003138329
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)	SNV Germline	ChrX:153740599	Conflicting classifications of pathogenicity	Adrenoleukodystrophy ABCD1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10550291	rs_398123104	4 SubmittersRCV002760386 RCV004753579 RCV005601946 RCV005375151
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)	SNV Germline	ChrX:153726063	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099971	rs_2091711094	1 SubmittersRCV002731061
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)	SNV Germline	ChrX:153729337	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101043	rs_2522276290	1 SubmittersRCV002741931
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)	SNV Germline	ChrX:153736373	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415106078	rs_1046633404	1 SubmittersRCV002770187
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)	SNV Germline	ChrX:153740620	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415112693	rs_2091764566	2 SubmittersRCV002837993 RCV003232684
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)	SNV Germline	ChrX:153725717	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098883	rs_2522265685	1 SubmittersRCV002889427
NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)	SNV Germline	ChrX:153729350	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101136	rs_2522276362	1 SubmittersRCV002886463
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)	SNV Germline	ChrX:153725358	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10549906	rs_782454198	2 SubmittersRCV002922346
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)	SNV Germline	ChrX:153729403	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10550070	rs_782673539	2 SubmittersRCV003011343 RCV003482434
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)	SNV Germline	ChrX:153736244	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415105633	rs_2522288539	2 SubmittersRCV003027006 RCV003138451
NM_000033.4(ABCD1):c.1224+2T>A	SNV Germline	ChrX:153736256	Pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415105749	rs_2522288573	2 SubmittersRCV003043496
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)	SNV Germline	ChrX:153740652	Pathogenic/Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415112954	rs_2522298866	2 SubmittersRCV003048221
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)	SNV Germline	ChrX:153725696	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098838	rs_2522265591	1 SubmittersRCV003040508
NM_000033.4(ABCD1):c.1634+1G>C	SNV Germline	ChrX:153740238	Pathogenic/Likely pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415112091	rs_1569541096	2 SubmittersRCV003139471 RCV003512192
NM_000033.4(ABCD1):c.1850G>C (p.Arg617Pro)	SNV Germline	ChrX:153743056	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415116281	rs_11146842	2 SubmittersRCV003139501 RCV005099356
NM_000033.4(ABCD1):c.761C>A (p.Thr254Lys)	SNV Germline	ChrX:153726027	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415099844	rs_1131691743	2 SubmittersRCV003139520 RCV005099357
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)	SNV Germline	ChrX:153725612	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098669	rs_398123110	1 SubmittersRCV003227538
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)	SNV Germline	ChrX:153743230	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116639	rs_1557055315	1 SubmittersRCV003230788
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)	SNV Germline	ChrX:153725486	Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415098421	rs_2522264062	2 SubmittersRCV003236250 RCV004593245
NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys)	SNV Germline	ChrX:153725375	Conflicting classifications of pathogenicity	Inborn genetic diseases Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415097586	rs_1479670923	2 SubmittersRCV003310148 RCV003624511
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)	SNV Germline	ChrX:153726114	Conflicting classifications of pathogenicity	Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA415100170	rs_2148389929	2 SubmittersRCV003314419
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)	SNV Germline	ChrX:153743258	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA337242826	rs_201427153	5 SubmittersRCV003335976 RCV003491364 RCV004801339
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)	SNV Germline	ChrX:153729266	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100637	rs_2522276019	1 SubmittersRCV003397179
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)	SNV Unknown	ChrX:153743577	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415118738	rs_1268176383	1 SubmittersRCV003474058
NM_000033.4(ABCD1):c.1454C>A (p.Ser485Ter)	SNV Germline	ChrX:153737217	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108563	rs_1603234759	1 SubmittersRCV004545908
NM_000033.4(ABCD1):c.1781-1G>T	SNV Germline	ChrX:153742986	Pathogenic/Likely pathogenic	Condition: not provided Adrenoleukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA415115596	rs_797044781	2 SubmittersRCV003491879 RCV005100324
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)	SNV Germline	ChrX:153737191	Conflicting classifications of pathogenicity	Condition: not provided Adrenoleukodystrophy	Criteria Provided Conflicting Classifications	CA10550219	rs_141446687	2 SubmittersRCV003489514 RCV003779262
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)	SNV Unknown	ChrX:153740617	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112676	rs_2091764526	1 SubmittersRCV003494087
NM_000033.4(ABCD1):c.1081+1G>C	SNV Germline	ChrX:153729413	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415101368	rs_2091727061	1 SubmittersRCV003512437
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)	SNV Germline	ChrX:153726138	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100268	rs_2522268648	1 SubmittersRCV003513256
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)	SNV Germline	ChrX:153737241	Likely pathogenic	Adrenoleukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415108810	rs_2522291808	2 SubmittersRCV003512999 RCV005054460
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)	SNV Germline	ChrX:153726096	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100095	rs_2091711473	1 SubmittersRCV003513232
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)	SNV Germline	ChrX:153725721	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098892	rs_1557052367	1 SubmittersRCV003513336
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)	SNV Germline	ChrX:153726090	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA337234735	rs_968415184	1 SubmittersRCV003513554
NM_000033.4(ABCD1):c.992A>T (p.Glu331Val)	SNV Germline	ChrX:153729323	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100939	rs_1557053241	1 SubmittersRCV003513742
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)	SNV Germline	ChrX:153725365	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415097542	rs_2522263168	1 SubmittersRCV003513705
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)	SNV Germline	ChrX:153725516	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098480	rs_2091704834	1 SubmittersRCV003513706
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)	SNV Germline	ChrX:153725559	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098558	rs_1557052294	1 SubmittersRCV003513708
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)	SNV Germline	ChrX:153725625	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098691	rs_781797609	1 SubmittersRCV003513709
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)	SNV Germline	ChrX:153725694	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098837	rs_2522265580	1 SubmittersRCV003513710
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)	SNV Germline	ChrX:153725786	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099023	rs_128624217	1 SubmittersRCV003513711
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)	SNV Germline	ChrX:153726054	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099935	rs_2522268027	1 SubmittersRCV003513713
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)	SNV Germline	ChrX:153726102	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100118	rs_2522268363	1 SubmittersRCV003513714
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)	SNV Germline	ChrX:153726135	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100258	rs_868934170	1 SubmittersRCV003513715
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)	SNV Germline	ChrX:153729322	Conflicting classifications of pathogenicity	Adrenoleukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA415100925	rs_2522276239	2 SubmittersRCV003513716 RCV004701746
NM_000033.4(ABCD1):c.1394-2A>G	SNV Germline	ChrX:153737155	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA337240334	rs_74315277	1 SubmittersRCV003513719
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)	SNV Germline	ChrX:153737241	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415108803	rs_2522291808	1 SubmittersRCV003513720
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)	SNV Germline	ChrX:153740203	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111770	rs_2522297431	1 SubmittersRCV003513721
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)	SNV Germline	ChrX:153740606	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112564	rs_2091764439	1 SubmittersRCV003513722
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)	SNV Germline	ChrX:153740711	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415113350	rs_1557054873	1 SubmittersRCV003513723
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)	SNV Germline	ChrX:153743273	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117048	rs_2522303423	1 SubmittersRCV003513724
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)	SNV Germline	ChrX:153736361	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415105969	rs_2522288938	1 SubmittersRCV003511600
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)	SNV Germline	ChrX:153736252	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415105727	rs_2522288561	1 SubmittersRCV003511643
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)	SNV Germline	ChrX:153743037	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116069	rs_2522302700	1 SubmittersRCV003513752
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)	SNV Germline	ChrX:153743316	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117620	rs_2091774046	1 SubmittersRCV003512634
NM_000033.4(ABCD1):c.1634+1G>T	SNV Germline	ChrX:153740238	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415112094	rs_1569541096	1 SubmittersRCV003625136
NM_000033.4(ABCD1):c.1586G>T (p.Gly529Val)	SNV Germline	ChrX:153740189	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415111642	rs_398123103	1 SubmittersRCV003625282
NM_000033.4(ABCD1):c.581A>T (p.Asp194Val)	SNV Germline	ChrX:153725847	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099182	rs_781970658	1 SubmittersRCV003625417
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)	SNV Germline	ChrX:153725575	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415098592	rs_2522264773	1 SubmittersRCV003625421
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)	SNV Germline	ChrX:153726116	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100181	rs_2522268484	1 SubmittersRCV003625488
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)	SNV Germline	ChrX:153729248	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415100565	rs_2522275938	1 SubmittersRCV003625477
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)	SNV Germline	ChrX:153743232	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116663	rs_2522303280	1 SubmittersRCV003625604
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)	SNV Germline	ChrX:153725925	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415099440	rs_2091709142	1 SubmittersRCV003625949
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)	SNV Germline	ChrX:153743294	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415117327	rs_2522303497	1 SubmittersRCV003624099
NM_000033.4(ABCD1):c.1866-2A>T	SNV Germline	ChrX:153743219	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter	CA415116536	rs_2522303217	1 SubmittersRCV003991911
NM_000033.4(ABCD1):c.686T>C (p.Leu229Pro)	SNV Unknown	ChrX:153725952	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter		rs_2522267238	1 SubmittersRCV004574512
NM_000033.4(ABCD1):c.900+1G>C	SNV Germline	ChrX:153726167	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004818922
NM_000033.4(ABCD1):c.892G>T (p.Gly298Cys)	SNV Germline	ChrX:153726158	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005109487
NM_000033.4(ABCD1):c.1252C>G (p.Arg418Gly)	SNV Germline	ChrX:153736372	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005109490
NM_000033.4(ABCD1):c.1831C>G (p.Gln611Glu)	SNV Germline	ChrX:153743037	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005109493
NM_000033.4(ABCD1):c.1993A>T (p.Lys665Ter)	SNV Germline	ChrX:153743490	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005114559
NM_000033.4(ABCD1):c.1781-1G>C	SNV Germline	ChrX:153742986	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005132521
NM_000033.4(ABCD1):c.91A>T (p.Lys31Ter)	SNV Germline	ChrX:153725357	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005142948
NM_000033.4(ABCD1):c.396G>A (p.Trp132Ter)	SNV Germline	ChrX:153725662	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201482
NM_000033.4(ABCD1):c.532C>T (p.Gln178Ter)	SNV Germline	ChrX:153725798	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201499
NM_000033.4(ABCD1):c.569T>C (p.Leu190Pro)	SNV Germline	ChrX:153725835	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201500
NM_000033.4(ABCD1):c.668C>A (p.Ala223Asp)	SNV Germline	ChrX:153725934	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201501
NM_000033.4(ABCD1):c.760A>C (p.Thr254Pro)	SNV Germline	ChrX:153726026	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201502
NM_000033.4(ABCD1):c.900+1G>T	SNV Germline	ChrX:153726167	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201505
NM_000033.4(ABCD1):c.906G>C (p.Glu302Asp)	SNV Germline	ChrX:153729237	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201507
NM_000033.4(ABCD1):c.1531T>C (p.Cys511Arg)	SNV Germline	ChrX:153740134	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201514
NM_000033.4(ABCD1):c.1640A>G (p.Tyr547Cys)	SNV Germline	ChrX:153740579	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201518
NM_000033.4(ABCD1):c.1666C>T (p.Gln556Ter)	SNV Germline	ChrX:153740605	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005201519
NM_000033.4(ABCD1):c.898G>T (p.Glu300Ter)	SNV Germline	ChrX:153726164	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005194806
NM_000033.4(ABCD1):c.1489-1G>T	SNV Germline	ChrX:153740091	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005207046
NM_000033.4(ABCD1):c.938T>C (p.Leu313Pro)	SNV Germline	ChrX:153729269	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005215807
NM_000033.4(ABCD1):c.163C>T (p.Gln55Ter)	SNV Unknown	ChrX:153725429	Pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005247980
NM_000033.4(ABCD1):c.1202G>T (p.Arg401Leu)	SNV Germline	ChrX:153736232	Likely pathogenic	Adrenoleukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005418560
NM_000033.4(ABCD1):c.1082-2A>G	SNV Germline	ChrX:153736110	Likely pathogenic	Adrenoleukodystrophy	No Assertion Criteria Provided			1 SubmittersRCV005610427

NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys)

SNV
Germline

ChrX:153726137

Pathogenic

Adrenoleukodystrophy

No Assertion Criteria Provided

CA278100

rs_128624213

1 SubmittersRCV000012044

NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg)

SNV
Germline

ChrX:153737214

Pathogenic

Adrenoleukodystrophy

No Assertion Criteria Provided

CA278101

rs_128624214

1 SubmittersRCV000012045

NM_000033.4(ABCD1):c.1635-2A>G

SNV
Germline

ChrX:153740572

Pathogenic

Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA415112240

rs_1569541109

4 SubmittersRCV000012046 RCV003886360 RCV002399317

NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)

SNV
Germline

ChrX:153736195

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278102

rs_128624215

3 SubmittersRCV000012048 RCV003488335

NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)

SNV
Germline

ChrX:153725709

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278103

rs_128624216

4 SubmittersRCV000012049 RCV001268346

NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)

SNV
Germline

ChrX:153725786

Pathogenic

Adrenoleukodystrophy

No Assertion Criteria Provided

CA278104

rs_128624217

1 SubmittersRCV000012050

NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)

SNV
Germline

ChrX:153726062

Pathogenic

Adrenoleukodystrophy
X-linked spondyloepimetaphyseal dysplasia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA278105

rs_128624218

12 SubmittersRCV000012051 RCV001358196 RCV000723479 RCV002415409

NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)

SNV
Germline

ChrX:153736232

Pathogenic

Adrenoleukodystrophy
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278106

rs_128624219

10 SubmittersRCV000012052 RCV001001636 RCV001781249

NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)

SNV
Germline

ChrX:153736372

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278107

rs_128624220

8 SubmittersRCV000012053 RCV000518515

NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)

SNV
Germline

ChrX:153736510

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278108

rs_128624221

12 SubmittersRCV000012054 RCV001781250 RCV003415686

NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter)

SNV
Germline

ChrX:153737192

Pathogenic

Adrenoleukodystrophy

No Assertion Criteria Provided

CA278111

rs_128624222

1 SubmittersRCV000012056

NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)

SNV
Germline

ChrX:153740147

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA278113

rs_128624223

2 SubmittersRCV000012057

NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)

SNV
Germline

ChrX:153740155

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided
X-linked spondyloepimetaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA278115

rs_128624224

9 SubmittersRCV000012059 RCV000723537 RCV001358358

NM_000033.4(ABCD1):c.1634+1G>A

SNV
Germline

ChrX:153740238

Pathogenic

Adrenoleukodystrophy

No Assertion Criteria Provided

CA415112089

rs_1569541096

1 SubmittersRCV000012060

NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)

SNV
Germline

ChrX:153743023

Pathogenic

Adrenoleukodystrophy
Condition: not provided
Primary adrenocortical insufficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA121420

rs_128624225

9 SubmittersRCV000180094 RCV000517966 RCV000012062

NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)

SNV
Germline

ChrX:153743056

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278116

rs_11146842

10 SubmittersRCV000012064 RCV000723904

NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)

SNV
Germline

ChrX:153743055

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278117

rs_4010613

11 SubmittersRCV000012065 RCV001093003

NM_000033.4(ABCD1):c.1865+1G>A

SNV
Germline

ChrX:153743072

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116407

rs_1569541198

2 SubmittersRCV000012067

NM_000033.4(ABCD1):c.900G>A (p.Glu300=)

SNV
Germline

ChrX:153726166

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA519345342

rs_1569540743

2 SubmittersRCV000012068

NM_000033.4(ABCD1):c.1780+4G>A

SNV
Germline

ChrX:153740723

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA278377

rs_193922095

3 SubmittersRCV000029286

NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)

SNV
Germline

ChrX:153725687

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278381

rs_193922097

7 SubmittersRCV000029289 RCV000723567

NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)

SNV
Germline

ChrX:153726104

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
History of neurodevelopmental disorder
Condition: not provided
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278382

rs_193922098

11 SubmittersRCV000029290 RCV000721083 RCV001781320 RCV003407363

NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)

SNV
Germline

ChrX:153737159

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278401

rs_398123100

3 SubmittersRCV000077950 RCV001063464

NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)

SNV
Germline

ChrX:153740156

Pathogenic

Adrenoleukodystrophy
Condition: not provided
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278403

rs_398123102

13 SubmittersRCV000077955 RCV000723540 RCV004752737

NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)

SNV
Germline

ChrX:153740618

Pathogenic

Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA278408

rs_398123105

11 SubmittersRCV000077958 RCV000723625 RCV002399466

NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)

SNV
Germline

ChrX:153740710

Pathogenic/Likely pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278409

rs_398123106

6 SubmittersRCV000498217 RCV000808514

NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)

SNV
Germline

ChrX:153743008

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278410

rs_398123107

3 SubmittersRCV000077960 RCV002513814

NM_000033.4(ABCD1):c.1866-10G>A

SNV
Germline

ChrX:153743211

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided
Spastic paraplegia
Spastic gait
not specified
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA278412

rs_398123108

12 SubmittersRCV000077961 RCV000414732 RCV000626568 RCV001000924 RCV002408605

NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)

SNV
Germline

ChrX:153725612

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278414

rs_398123110

6 SubmittersRCV000077963 RCV002460043 RCV002513815 RCV004752738

NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)

SNV
Germline

ChrX:153725672

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278415

rs_398123111

2 SubmittersRCV000077964 RCV002515752

NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)

SNV
Germline

ChrX:153725880

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA278418

rs_398123113

4 SubmittersRCV000077967 RCV001390637

NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)

SNV
Germline

ChrX:153740600

Pathogenic

Condition: not provided
Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278460

rs_201568579

14 SubmittersRCV000516866 RCV001203306 RCV004752757

NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)

SNV
Germline

ChrX:153743031

Pathogenic

Adrenoleukodystrophy
Condition: not provided
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278461

rs_150346282

11 SubmittersRCV000152721 RCV000723952 RCV004730887

NM_000033.4(ABCD1):c.249C>T (p.Phe83=)

SNV
Germline

ChrX:153725515

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA233411

rs_782628755

5 SubmittersRCV000152718 RCV001084845

NM_000033.4(ABCD1):c.750G>C (p.Val250=)

SNV
Germline

ChrX:153726016

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA238543

rs_782196006

2 SubmittersRCV000173050 RCV002516575

NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)

SNV
Germline

ChrX:153726153

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278493

rs_797044610

9 SubmittersRCV000173051 RCV002372080 RCV000724285

NM_000033.4(ABCD1):c.707G>A (p.Arg236His)

SNV
Germline

ChrX:153725973

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA238545

rs_201455322

10 SubmittersRCV000173052 RCV002313018 RCV000395710

NM_000033.4(ABCD1):c.1992-2A>G

SNV
Germline

ChrX:153743487

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA278497

rs_797044626

3 SubmittersRCV000173621 RCV003624406

NM_000033.4(ABCD1):c.1992-15C>T

SNV
Germline

ChrX:153743474

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA239085

rs_782734602

2 SubmittersRCV000173623 RCV003512020

NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)

SNV
Germline

ChrX:153736408

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278507

rs_797044726

4 SubmittersRCV000178024 RCV000763198

NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)

SNV
Germline

ChrX:153743024

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA247486

rs_140263823

6 SubmittersRCV000180096 RCV001085784 RCV002408781 RCV003895205

NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn)

SNV
Unknown

ChrX:153725917

Likely pathogenic

Adrenoleukodystrophy

No Assertion Criteria Provided

CA278563

rs_864309520

1 SubmittersRCV000202647

NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)

SNV
Germline

ChrX:153740683

Conflicting classifications of pathogenicity

not specified
Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA249150

rs_76180859

7 SubmittersRCV000202951 RCV000602068 RCV000675195 RCV002311311 RCV003977553

NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)

SNV
Germline

ChrX:153743022

Conflicting classifications of pathogenicity

not specified
Adrenoleukodystrophy
X-linked cerebral adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA249048

rs_201774661

8 SubmittersRCV000202845 RCV000354458 RCV001354702

NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)

SNV
Germline

ChrX:153743029

Conflicting classifications of pathogenicity

not specified
Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA249262

rs_78993751

5 SubmittersRCV000203059 RCV000990979 RCV001358088

NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)

SNV
Germline

ChrX:153736196

Pathogenic/Likely pathogenic

Condition: not provided
Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603846

rs_886044777

10 SubmittersRCV000268436 RCV000984141 RCV003391027

NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)

SNV
Germline

ChrX:153743255

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA10604122

rs_782041940

9 SubmittersRCV000488080 RCV000633484 RCV003401238

NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)

SNV
Germline

ChrX:153743343

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10606220

rs_886044882

3 SubmittersRCV000307057 RCV002463361

NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)

SNV
Germline

ChrX:153743541

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550393

rs_781793261

3 SubmittersRCV000323903

NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)

SNV
Germline

ChrX:153737191

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550218

rs_141446687

2 SubmittersRCV000312537

NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)

SNV
Germline

ChrX:153725795

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10654775

rs_1057516052

6 SubmittersRCV000408645 RCV001290674

NM_000033.4(ABCD1):c.488G>A (p.Arg163His)

SNV
Germline

ChrX:153725754

Pathogenic/Likely pathogenic

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16043184

rs_1057517954

6 SubmittersRCV000414525 RCV000699535 RCV002338970 RCV004730940

NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)

SNV
Germline

ChrX:153740185

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10550259

rs_376472029

5 SubmittersRCV000432469 RCV000766078 RCV005520277

NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)

SNV
Germline

ChrX:153726075

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550017

rs_781970988

3 SubmittersRCV000433948 RCV001835799

NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)

SNV
Germline

ChrX:153726089

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Adrenoleukodystrophy
Inborn genetic diseases
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA10550021

rs_782083931

9 SubmittersRCV000434855 RCV000507685 RCV000695726 RCV002411343 RCV003902547

NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)

SNV
Germline

ChrX:153725366

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10549907

rs_375019683

3 SubmittersRCV000418353 RCV001276529

NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)

SNV
Germline

ChrX:153743670

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550412

rs_782809184

3 SubmittersRCV000426538 RCV003488588 RCV002524859

NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)

SNV
Germline

ChrX:153725658

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10549949

rs_367799134

4 SubmittersRCV000681640 RCV001720188

NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)

SNV
Germline

ChrX:153743250

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16621227

rs_1064793877

4 SubmittersRCV000480881 RCV000853230

NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)

SNV
Germline

ChrX:153725831

Pathogenic/Likely pathogenic

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA415099128

rs_1131691916

10 SubmittersRCV000493301 RCV000633486 RCV002350104

NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)

SNV
Germline

ChrX:153726027

Pathogenic/Likely pathogenic

ABCD1-related disorder
Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA415099842

rs_1131691743

8 SubmittersRCV003392323 RCV000493818 RCV000633477 RCV002395197

NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)

SNV
Germline

ChrX:153726146

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415100308

rs_1131691954

6 SubmittersRCV000492856 RCV000686131

NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)

SNV
Germline

ChrX:153725306

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10549899

rs_781900720

6 SubmittersRCV000502342 RCV000512675 RCV001239741

NM_000033.4(ABCD1):c.54G>A (p.Thr18=)

SNV
Germline

ChrX:153725320

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA10549902

rs_781855598

5 SubmittersRCV000512910 RCV001086974 RCV002350133 RCV003935340

NM_000033.4(ABCD1):c.420C>A (p.Ile140=)

SNV
Germline

ChrX:153725686

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10549951

rs_74315279

5 SubmittersRCV000513392 RCV001087539 RCV002329212

NM_000033.4(ABCD1):c.1082-1G>A

SNV
Germline

ChrX:153736111

Likely pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415104345

rs_1557054153

2 SubmittersRCV000519461 RCV001377327

NM_000033.4(ABCD1):c.311G>A (p.Arg104His)

SNV
Germline

ChrX:153725577

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098597

rs_1557052302

4 SubmittersRCV000544041 RCV001580508

NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)

SNV
Germline

ChrX:153725708

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098863

rs_1557052362

1 SubmittersRCV000547607

NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val)

SNV
Germline

ChrX:153736454

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415107044

rs_1432758988

5 SubmittersRCV000557311 RCV001529574 RCV004649187

NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)

SNV
Germline

ChrX:153740129

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10550254

rs_782158792

5 SubmittersRCV000534849 RCV002395316 RCV003488661

NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)

SNV
Germline

ChrX:153740711

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases
Ehlers-Danlos syndrome, kyphoscoliotic type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA415113345

rs_1557054873

11 SubmittersRCV000538578 RCV000675196 RCV002528315 RCV004541648

NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)

SNV
Germline

ChrX:153743334

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117805

rs_1557055340

1 SubmittersRCV000552581

NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)

SNV
Germline

ChrX:153725307

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA10549900

rs_782161942

11 SubmittersRCV000537259 RCV001508971 RCV002311848 RCV003925603

NM_000033.4(ABCD1):c.1780+2T>G

SNV
Germline

ChrX:153740721

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415113455

rs_1557054875

1 SubmittersRCV000548944

NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)

SNV
Germline

ChrX:153725559

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098560

rs_1557052294

4 SubmittersRCV000529139 RCV001783035

NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)

SNV
Germline

ChrX:153725787

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415099025

rs_1557052390

7 SubmittersRCV000536329 RCV001783036

NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)

SNV
Germline

ChrX:153736390

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415106267

rs_1557054210

1 SubmittersRCV000532174

NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)

SNV
Germline

ChrX:153743495

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415118105

rs_1170974058

2 SubmittersRCV000541276

NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu)

SNV
Germline

ChrX:153743698

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10550417

rs_368462762

4 SubmittersRCV000544959 RCV002431553 RCV003128625

NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)

SNV
Germline

ChrX:153736231

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415105485

rs_727503786

5 SubmittersRCV000578153 RCV004701671

NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)

SNV
Germline

ChrX:153736381

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415106144

rs_1255903649

4 SubmittersRCV000613593 RCV001727783

NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)

SNV
Germline

ChrX:153743532

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118445

rs_1557055405

1 SubmittersRCV000625957

NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)

SNV
Germline

ChrX:153737215

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550223

rs_782546330

3 SubmittersRCV000626183

NM_000033.4(ABCD1):c.1866-1G>C

SNV
Germline

ChrX:153743220

Likely pathogenic

Encephalitis
Episodic vomiting
Myocarditis
Recurrent fever
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415116542

rs_1557055311

2 SubmittersRCV000626569 RCV001243822

NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)

SNV
Germline

ChrX:153726109

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415100145

rs_1557052555

3 SubmittersRCV000627370 RCV001001992 RCV001800831

NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)

SNV
Germline

ChrX:153726005

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10550007

rs_782487174

7 SubmittersRCV000633488 RCV003139959

NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)

SNV
Germline

ChrX:153740170

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111462

rs_1159943880

1 SubmittersRCV000633481

NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)

SNV
Germline

ChrX:153743269

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
ABCD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10550358

rs_199723613

5 SubmittersRCV000633496 RCV003935769 RCV003432664

NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)

SNV
Germline

ChrX:153740135

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415111140

rs_1557054745

2 SubmittersRCV000633490 RCV003139960

NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)

SNV
Germline

ChrX:153740231

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415112044

rs_1557054776

7 SubmittersRCV000633485 RCV000727694

NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)

SNV
Germline

ChrX:153743257

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10550355

rs_141110958

5 SubmittersRCV000633497 RCV001086228 RCV002413815

NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)

SNV
Germline

ChrX:153740155

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111345

rs_128624224

1 SubmittersRCV000633480

NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)

SNV
Germline

ChrX:153743500

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118177

rs_1557055398

1 SubmittersRCV000633489

NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)

SNV
Germline

ChrX:153726142

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100288

rs_1557052573

1 SubmittersRCV000633492

NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)

SNV
Germline

ChrX:153743032

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116021

rs_1557055260

1 SubmittersRCV000633491

NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)

SNV
Germline

ChrX:153725966

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415099600

rs_1557052478

6 SubmittersRCV000675190 RCV001855619 RCV002360702

NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)

SNV
Germline

ChrX:153726022

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA337234614

rs_200849757

3 SubmittersRCV000681650

NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala)

SNV
Germline

ChrX:153725699

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098845

rs_1292006620

1 SubmittersRCV000693896

NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)

SNV
Germline

ChrX:153725720

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098891

rs_1569540693

4 SubmittersRCV000700171 RCV001288421

NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)

SNV
Germline

ChrX:153736156

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415104801

rs_782266592

1 SubmittersRCV000691168

NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)

SNV
Germline

ChrX:153743231

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415116649

rs_1557055316

8 SubmittersRCV000699538 RCV001784336

NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)

SNV
Germline

ChrX:153725718

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415098886

rs_1569540692

3 SubmittersRCV000689892 RCV001564691

NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)

SNV
Germline

ChrX:153736211

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415105323

rs_1324874967

3 SubmittersRCV000685774 RCV004649263

NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)

SNV
Germline

ChrX:153725848

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415099188

rs_1569540703

2 SubmittersRCV000690849 RCV003140090

NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)

SNV
Germline

ChrX:153740686

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided
ABCD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA415113133

rs_1569541120

7 SubmittersRCV000685857 RCV002267015 RCV003420213 RCV003994077

NM_000033.4(ABCD1):c.1866-1G>A

SNV
Germline

ChrX:153743220

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116541

rs_1557055311

1 SubmittersRCV000704173

NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)

SNV
Germline

ChrX:153736126

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415104498

rs_1569541000

3 SubmittersRCV000710054

NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)

SNV
Germline

ChrX:153740137

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA415111153

rs_1569541088

12 SubmittersRCV000710055 RCV000710400 RCV003392549

NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)

SNV
Germline

ChrX:153743333

Pathogenic

Adrenoleukodystrophy
Condition: not provided
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA415117798

rs_1569541203

9 SubmittersRCV000710056 RCV001268534 RCV003392550

NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)

SNV
Germline

ChrX:153725919

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415099421

rs_1569540710

5 SubmittersRCV000710404 RCV000787041

NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)

SNV
Germline

ChrX:153736357

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415105913

rs_1569541011

4 SubmittersRCV000710398 RCV001800863

NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)

SNV
Germline

ChrX:153737211

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA415108478

rs_1569541035

5 SubmittersRCV000710399 RCV000800638 RCV003907963

NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)

SNV
Germline

ChrX:153743304

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415117457

rs_1557055333

4 SubmittersRCV001772021 RCV002318878 RCV001206153

NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)

SNV
Germline

ChrX:153725586

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415098616

rs_1569540688

3 SubmittersRCV000722143

NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)

SNV
Germline

ChrX:153725790

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415099034

rs_1569540700

3 SubmittersRCV000755765 RCV001339930

NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)

SNV
Germline

ChrX:153726119

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA337234807

rs_782334088

4 SubmittersRCV000755767 RCV002536555 RCV004027120 RCV004702390

NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)

SNV
Germline

ChrX:153725346

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415097462

rs_1569540665

1 SubmittersRCV000761212

NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)

SNV
Germline

ChrX:153725753

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098959

rs_1569540695

5 SubmittersRCV000761213 RCV001784375

NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)

SNV
Germline

ChrX:153725859

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415099235

rs_1569540704

7 SubmittersRCV000761214 RCV003141740

NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)

SNV
Germline

ChrX:153736195

Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA337239849

rs_128624215

7 SubmittersRCV000761215 RCV004588164

NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)

SNV
Germline

ChrX:153736216

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415105353

rs_1569541006

1 SubmittersRCV000761216

NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)

SNV
Germline

ChrX:153740200

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10550260

rs_781862879

9 SubmittersRCV000761217 RCV003141741 RCV002397532

NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)

SNV
Germline

ChrX:153743328

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117771

rs_1557055337

1 SubmittersRCV000761218

NM_000033.4(ABCD1):c.854G>A (p.Arg285His)

SNV
Germline

ChrX:153726120

Conflicting classifications of pathogenicity

Intellectual disability
not specified
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550027

rs_782635828

6 SubmittersRCV000850212 RCV002249468 RCV002051891

NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)

SNV
Germline

ChrX:153743334

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415117801

rs_1557055340

8 SubmittersRCV000778893 RCV003457795

NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)

SNV
Germline

ChrX:153725474

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10549921

rs_782701925

3 SubmittersRCV000792914 RCV004958084

NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)

SNV
Germline

ChrX:153725612

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098668

rs_398123110

1 SubmittersRCV000824204

NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)

SNV
Germline

ChrX:153725774

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA10549967

rs_782293513

8 SubmittersRCV001575604 RCV000798341 RCV004753045

NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)

SNV
Germline

ChrX:153726095

Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415100088

rs_1603232195

3 SubmittersRCV000807408 RCV002245679

NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)

SNV
Germline

ChrX:153726158

Pathogenic/Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415100354

rs_1603232243

5 SubmittersRCV000824100

NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)

SNV
Germline

ChrX:153729250

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415100572

rs_1603233089

2 SubmittersRCV000807056 RCV003132063

NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)

SNV
Germline

ChrX:153737217

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108564

rs_1603234759

1 SubmittersRCV000813291

NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)

SNV
Germline

ChrX:153740576

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415112281

rs_1603235394

4 SubmittersRCV000822259 RCV001726340

NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)

SNV
Germline

ChrX:153742990

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415115616

rs_1603235901

1 SubmittersRCV000796458

NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)

SNV
Germline

ChrX:153743274

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117060

rs_1603236012

1 SubmittersRCV000824353

NM_000033.4(ABCD1):c.1489-1G>A

SNV
Germline

ChrX:153740091

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415110712

rs_1603235263

1 SubmittersRCV000816853

NM_000033.4(ABCD1):c.1635-1G>A

SNV
Germline

ChrX:153740573

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112247

rs_1603235389

1 SubmittersRCV000850151

NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)

SNV
Germline

ChrX:153725787

Pathogenic/Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415099024

rs_1557052390

3 SubmittersRCV000850177

NM_000033.4(ABCD1):c.422C>T (p.Ala141Val)

SNV
Germline

ChrX:153725688

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098825

rs_1603231911

3 SubmittersRCV000853228 RCV003327470

NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg)

SNV
Germline

ChrX:153729346

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101113

rs_1603233120

1 SubmittersRCV000853225

NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter)

SNV
Germline

ChrX:153736249

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415105674

rs_1603234501

1 SubmittersRCV000855404

NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)

SNV
Germline

ChrX:153743322

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415117728

rs_1603236020

2 SubmittersRCV000856679

NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)

SNV
Germline

ChrX:153726161

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550031

rs_202195978

3 SubmittersRCV000872653

NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)

SNV
Germline

ChrX:153725607

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098658

rs_1603231848

3 SubmittersRCV000990973 RCV003489996

NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)

SNV
Unknown

ChrX:153726144

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100298

rs_1603232237

1 SubmittersRCV000990975

NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)

SNV
Unknown

ChrX:153736174

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415104989

rs_1603234466

1 SubmittersRCV000990976

NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)

SNV
Germline

ChrX:153740104

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415110832

rs_1603235267

2 SubmittersRCV000990977

NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)

SNV
Germline

ChrX:153743046

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10550327

rs_146525445

4 SubmittersRCV000990980 RCV001838338

NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)

SNV
Unknown

ChrX:153743495

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118098

rs_1170974058

1 SubmittersRCV000990982

NM_000033.4(ABCD1):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:153725267

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415097154

rs_2091702389

1 SubmittersRCV001055844

NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)

SNV
Germline

ChrX:153725708

Pathogenic/Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415098862

rs_1557052362

2 SubmittersRCV001069371

NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)

SNV
Germline

ChrX:153726063

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099970

rs_2091711094

1 SubmittersRCV001070251

NM_000033.4(ABCD1):c.847C>G (p.His283Asp)

SNV
Germline

ChrX:153726113

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100167

rs_782509393

1 SubmittersRCV001041848

NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)

SNV
Germline

ChrX:153726140

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415100277

rs_2091712008

4 SubmittersRCV001035803 RCV003141940 RCV002372745

NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)

SNV
Germline

ChrX:153729253

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10550055

rs_782419107

3 SubmittersRCV001054987 RCV004649434

NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)

SNV
Germline

ChrX:153729325

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100955

rs_2091726671

1 SubmittersRCV001036486

NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)

SNV
Germline

ChrX:153729359

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101160

rs_2091726809

1 SubmittersRCV001041034

NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)

SNV
Germline

ChrX:153736202

Pathogenic/Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415105262

rs_1557054173

3 SubmittersRCV001039824

NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)

SNV
Germline

ChrX:153736373

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337239971

rs_1046633404

4 SubmittersRCV001058584 RCV003396696 RCV004768833

NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)

SNV
Germline

ChrX:153740137

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA415111151

rs_1569541088

2 SubmittersRCV001057299 RCV003396694

NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)

SNV
Germline

ChrX:153740234

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112066

rs_2091763089

1 SubmittersRCV001038533

NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)

SNV
Germline

ChrX:153740617

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112672

rs_2091764526

1 SubmittersRCV001060280

NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)

SNV
Germline

ChrX:153743316

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117638

rs_2091774046

1 SubmittersRCV001041737

NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)

SNV
Germline

ChrX:153743496

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118114

rs_2091775068

1 SubmittersRCV001048143

NM_000033.4(ABCD1):c.1081+1G>A

SNV
Germline

ChrX:153729413

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101366

rs_2091727061

1 SubmittersRCV001045481

NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)

SNV
Germline

ChrX:153740231

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112041

rs_1557054776

2 SubmittersRCV001090088

NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)

SNV
Germline

ChrX:153726105

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415100129

rs_781904944

4 SubmittersRCV001090114

NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)

SNV
Germline

ChrX:153725474

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415098394

rs_782701925

6 SubmittersRCV001093002 RCV001245742

NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)

SNV
Germline

ChrX:153743499

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415118150

rs_1603236086

3 SubmittersRCV001249460

NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter)

SNV
Germline

ChrX:153743346

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415117911

rs_2091774163

2 SubmittersRCV001093621

NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)

SNV
Germline

ChrX:153736122

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA519217328

rs_782250326

4 SubmittersRCV001167363

NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)

SNV
Germline

ChrX:153740638

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10550293

rs_201114595

5 SubmittersRCV001169925 RCV003235483

NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)

SNV
Germline

ChrX:153729341

Conflicting classifications of pathogenicity

Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415101081

rs_2091726692

2 SubmittersRCV002320386 RCV001873591

NM_000033.4(ABCD1):c.900+2T>G

SNV
Germline

ChrX:153726168

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415100410

rs_2091712381

2 SubmittersRCV001195762

NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)

SNV
Germline

ChrX:153725677

Pathogenic

Adrenoleukodystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098799

rs_2091706547

3 SubmittersRCV001223136 RCV002322079 RCV003132290

NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)

SNV
Germline

ChrX:153725925

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099442

rs_2091709142

1 SubmittersRCV001219529

NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)

SNV
Germline

ChrX:153729358

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101158

rs_2091726796

1 SubmittersRCV001220804

NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)

SNV
Germline

ChrX:153737177

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108154

rs_2091752744

1 SubmittersRCV001225015

NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)

SNV
Germline

ChrX:153740111

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415110897

rs_2091762267

1 SubmittersRCV001218447

NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)

SNV
Germline

ChrX:153740171

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415111470

rs_2091762647

4 SubmittersRCV001218702

NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)

SNV
Germline

ChrX:153740614

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112639

rs_2091764510

2 SubmittersRCV001223848

NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)

SNV
Germline

ChrX:153725844

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099173

rs_2091708534

1 SubmittersRCV001214145

NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)

SNV
Germline

ChrX:153725846

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099180

rs_2091708552

1 SubmittersRCV001213319

NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)

SNV
Germline

ChrX:153726053

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099934

rs_2091710960

1 SubmittersRCV001206383

NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)

SNV
Germline

ChrX:153743247

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116835

rs_2091773525

1 SubmittersRCV001204546

NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)

SNV
Germline

ChrX:153743503

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118206

rs_2091775127

1 SubmittersRCV001210435

NM_000033.4(ABCD1):c.1488+1G>A

SNV
Germline

ChrX:153737252

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108921

rs_2091753176

1 SubmittersRCV001218118

NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)

SNV
Germline

ChrX:153725805

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415099067

rs_2091708150

2 SubmittersRCV001227564 RCV001815519

NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)

SNV
Germline

ChrX:153725927

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099447

rs_2091709198

1 SubmittersRCV001237757

NM_000033.4(ABCD1):c.839G>A (p.Arg280His)

SNV
Germline

ChrX:153726105

Conflicting classifications of pathogenicity

Condition: not provided
ABCD1-related disorder
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550025

rs_781904944

9 SubmittersRCV001587256 RCV003398972 RCV001226321

NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)

SNV
Germline

ChrX:153743028

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415115978

rs_2091772331

2 SubmittersRCV001230399 RCV003992469

NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)

SNV
Germline

ChrX:153743254

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415116871

rs_202125585

2 SubmittersRCV001230853 RCV003130204

NM_000033.4(ABCD1):c.290A>C (p.His97Pro)

SNV
Germline

ChrX:153725556

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098550

rs_2091705296

1 SubmittersRCV001240692

NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)

SNV
Germline

ChrX:153729323

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415100937

rs_1557053241

2 SubmittersRCV001250535

NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)

SNV
Germline

ChrX:153725745

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415098942

rs_2091707324

2 SubmittersRCV001252970

NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)

SNV
Germline

ChrX:153737247

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108885

rs_2091753125

1 SubmittersRCV001253465

NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter)

SNV
Germline

ChrX:153740707

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415113311

rs_2091765003

1 SubmittersRCV001253021

NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile)

SNV
Germline

ChrX:153743262

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116945

rs_2091773697

1 SubmittersRCV001253241

NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)

SNV
Germline

ChrX:153726117

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415100189

rs_2091711722

4 SubmittersRCV001260592 RCV003135895

NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)

SNV
Germline

ChrX:153725296

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415097281

rs_1304001811

2 SubmittersRCV001268905 RCV003512112

NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)

SNV
Germline

ChrX:153725951

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415099542

rs_2091709505

3 SubmittersRCV001289556

NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)

SNV
Germline

ChrX:153725589

Pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098621

rs_2091705631

3 SubmittersRCV001290134 RCV002245946

NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser)

SNV
Germline

ChrX:153725720

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098890

rs_1569540693

1 SubmittersRCV001290372

NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)

SNV
Germline

ChrX:153726096

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100097

rs_2091711473

1 SubmittersRCV001306698

NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)

SNV
Germline

ChrX:153743026

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415115950

rs_2091772324

3 SubmittersRCV001307498 RCV002411986

NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)

SNV
Germline

ChrX:153729236

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100517

rs_2091726251

1 SubmittersRCV001327376

NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)

SNV
Germline

ChrX:153743584

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA10550399

rs_782157913

5 SubmittersRCV001346480 RCV003953665

NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)

SNV
Germline

ChrX:153725864

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099252

rs_2091708688

1 SubmittersRCV001342918

NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)

SNV
Germline

ChrX:153736367

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415106033

rs_2091749844

1 SubmittersRCV001340427

NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)

SNV
Germline

ChrX:153725910

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415099381

rs_2148389537

2 SubmittersRCV001364216

NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)

SNV
Germline

ChrX:153726139

Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415100275

rs_2148389975

2 SubmittersRCV001379121 RCV001780291

NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)

SNV
Germline

ChrX:153737205

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108452

rs_2148396070

1 SubmittersRCV001377747

NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)

SNV
Germline

ChrX:153726051

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415099930

rs_1204814114

3 SubmittersRCV001389361 RCV002413919 RCV003136059

NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)

SNV
Germline

ChrX:153729296

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100761

rs_2148391974

1 SubmittersRCV001380273

NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)

SNV
Germline

ChrX:153736168

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415104932

rs_782007706

1 SubmittersRCV001385753

NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)

SNV
Germline

ChrX:153740719

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415113428

rs_2148398002

1 SubmittersRCV001390826

NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)

SNV
Germline

ChrX:153743023

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415115913

rs_128624225

1 SubmittersRCV001386772

NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)

SNV
Germline

ChrX:153725958

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10549996

rs_782143050

2 SubmittersRCV001477275

NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)

SNV
Germline

ChrX:153725298

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA337233471

rs_782122122

2 SubmittersRCV001483807

NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)

SNV
Germline

ChrX:153725487

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098424

rs_868953385

1 SubmittersRCV001526392

NM_000033.4(ABCD1):c.900+2T>C

SNV
Germline

ChrX:153726168

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100411

rs_2091712381

1 SubmittersRCV001526996

NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)

SNV
Germline

ChrX:153726095

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415100091

rs_1603232195

4 SubmittersRCV001553605 RCV003487477

NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter)

SNV
Germline

ChrX:153725748

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415098947

rs_373957035

2 SubmittersRCV001570580 RCV003512119

NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)

SNV
Germline

ChrX:153725295

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415097276

rs_2148388538

3 SubmittersRCV001576082 RCV002570805

NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)

SNV
Germline

ChrX:153726087

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10550020

rs_781874815

5 SubmittersRCV001580620 RCV002569105 RCV004587187

NM_000033.4(ABCD1):c.901-1G>A

SNV
Germline

ChrX:153729231

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415100492

rs_2148391908

4 SubmittersRCV001591534 RCV002221634

NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)

SNV
Germline

ChrX:153740170

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
Inborn genetic diseases
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA415111460

rs_1159943880

5 SubmittersRCV001591595 RCV001866136 RCV002569123 RCV004753375

NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu)

SNV
Germline

ChrX:153726051

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415099931

rs_1204814114

2 SubmittersRCV001765128 RCV003624461

NM_000033.4(ABCD1):c.268G>T (p.Glu90Ter)

SNV
Germline

ChrX:153725534

Pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415098509

rs_2148388883

2 SubmittersRCV001781875 RCV005095121

NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)

SNV
Germline

ChrX:153725754

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098960

rs_1057517954

1 SubmittersRCV002541171

NM_000033.4(ABCD1):c.901-2A>C

SNV
Germline

ChrX:153729230

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100491

rs_2148391907

1 SubmittersRCV003136152

NM_000033.4(ABCD1):c.901-2A>G

SNV
Germline

ChrX:153729230

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100490

rs_2148391907

1 SubmittersRCV001885173

NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)

SNV
Germline

ChrX:153726113

Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415100164

rs_782509393

2 SubmittersRCV003512134 RCV001780632

NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)

SNV
Germline

ChrX:153725753

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415098958

rs_1569540695

2 SubmittersRCV001885174

NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)

SNV
Germline

ChrX:153725321

Conflicting classifications of pathogenicity

not specified
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA337233489

rs_965462099

3 SubmittersRCV001797965 RCV002541315

NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)

SNV
Germline

ChrX:153729262

Pathogenic/Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415100619

rs_941503814

2 SubmittersRCV001823692

NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)

SNV
Germline

ChrX:153725721

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098893

rs_1557052367

2 SubmittersRCV002046321 RCV003138061

NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)

SNV
Germline

ChrX:153726062

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415099967

rs_128624218

2 SubmittersRCV002027918 RCV003138062

NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)

SNV
Germline

ChrX:153740636

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112810

rs_2148397936

1 SubmittersRCV002046362

NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)

SNV
Germline

ChrX:153740122

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415110999

rs_2148397545

1 SubmittersRCV002040642

NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)

SNV
Germline

ChrX:153740618

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112678

rs_398123105

1 SubmittersRCV002017853

NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)

SNV
Germline

ChrX:153743246

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116809

rs_2148399209

1 SubmittersRCV002017882

NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)

SNV
Germline

ChrX:153725576

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098594

rs_2148388971

3 SubmittersRCV001878403 RCV002463049

NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)

SNV
Germline

ChrX:153743029

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415115993

rs_78993751

1 SubmittersRCV001897900

NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)

SNV
Germline

ChrX:153726117

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100185

rs_2091711722

1 SubmittersRCV001950801

NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)

SNV
Germline

ChrX:153736254

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA519345954

rs_2148395507

2 SubmittersRCV001970107

NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter)

SNV
Germline

ChrX:153740659

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112978

rs_2148397954

1 SubmittersRCV001950806

NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)

SNV
Germline

ChrX:153743496

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118118

rs_2091775068

1 SubmittersRCV001946695

NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)

SNV
Germline

ChrX:153725420

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098282

rs_2148388737

1 SubmittersRCV001902392

NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)

SNV
Germline

ChrX:153740616

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112665

rs_2148397922

1 SubmittersRCV001972629

NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)

SNV
Germline

ChrX:153725897

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415099339

rs_2148389513

2 SubmittersRCV002051048

NM_000033.4(ABCD1):c.848A>G (p.His283Arg)

SNV
Germline

ChrX:153726114

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100172

rs_2148389929

1 SubmittersRCV001958819

NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)

SNV
Germline

ChrX:153725788

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099028

rs_2148389350

1 SubmittersRCV001874529

NM_000033.4(ABCD1):c.290A>G (p.His97Arg)

SNV
Germline

ChrX:153725556

Pathogenic/Likely pathogenic

Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA415098551

rs_2091705296

3 SubmittersRCV002009827 RCV004753460

NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)

SNV
Germline

ChrX:153725898

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099340

rs_2148389516

1 SubmittersRCV001951233

NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)

SNV
Germline

ChrX:153743548

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118560

rs_2091775375

1 SubmittersRCV002017025

NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)

SNV
Germline

ChrX:153740132

Pathogenic/Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415111129

rs_2148397558

2 SubmittersRCV002028139

NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)

SNV
Germline

ChrX:153743321

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA415117708

rs_2148399307

3 SubmittersRCV001878561 RCV003136216 RCV003401781

NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)

SNV
Germline

ChrX:153726026

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099838

rs_2148389772

1 SubmittersRCV001908964

NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)

SNV
Germline

ChrX:153740138

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111158

rs_2148397565

1 SubmittersRCV002031941

NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)

SNV
Germline

ChrX:153725720

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098889

rs_1569540693

1 SubmittersRCV001993926

NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)

SNV
Germline

ChrX:153726119

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100194

rs_782334088

1 SubmittersRCV001892058

NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)

SNV
Germline

ChrX:153743632

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415119135

rs_1557055447

3 SubmittersRCV001882207

NM_000033.4(ABCD1):c.901-5C>A

SNV
Germline

ChrX:153729227

Likely pathogenic

Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Single Submitter

CA2573159309

rs_782603062

2 SubmittersRCV001918693 RCV003892948

NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)

SNV
Germline

ChrX:153740126

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111076

rs_1569541087

1 SubmittersRCV001920320

NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)

SNV
Germline

ChrX:153743020

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415115886

rs_2148399015

4 SubmittersRCV002237199 RCV003138105

NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)

SNV
Germline

ChrX:153743059

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116310

rs_2148399060

1 SubmittersRCV002248956

NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)

SNV
Germline

ChrX:153743235

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415116688

rs_2148399201

3 SubmittersRCV002248957 RCV005241492

NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)

SNV
Germline

ChrX:153743241

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116735

rs_2148399208

1 SubmittersRCV002248958

NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)

SNV
Germline

ChrX:153725603

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415098650

rs_1557052306

2 SubmittersRCV002249219

NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)

SNV
Germline

ChrX:153737162

Conflicting classifications of pathogenicity

not specified
Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10550213

rs_192525493

4 SubmittersRCV002246933 RCV003094045 RCV002391377

NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)

SNV
Germline

ChrX:153742991

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415115625

rs_2148398982

2 SubmittersRCV002251033

NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly)

SNV
Germline

ChrX:153725297

Conflicting classifications of pathogenicity

not specified
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415097286

rs_1224689084

2 SubmittersRCV002266226 RCV003096011

NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)

SNV
Germline

ChrX:153725559

Likely pathogenic

Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Single Submitter

CA415098559

rs_1557052294

2 SubmittersRCV002282796 RCV004731257

NM_000033.4(ABCD1):c.1781-2A>G

SNV
Germline

ChrX:153742985

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415115587

rs_2522302506

1 SubmittersRCV002290421

NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)

SNV
Germline

ChrX:153743008

Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415115754

rs_398123107

2 SubmittersRCV002296614 RCV005250243

NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)

SNV
Unknown

ChrX:153736147

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415104705

rs_368606000

1 SubmittersRCV002306822

NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)

SNV
Unknown

ChrX:153729406

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101339

rs_1557053259

1 SubmittersRCV002309619

NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)

SNV
Unknown

ChrX:153740140

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111179

rs_2522297147

1 SubmittersRCV002308396

NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)

SNV
Germline

ChrX:153725649

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10549946

rs_782661286

2 SubmittersRCV003094394 RCV002355439

NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)

SNV
Germline

ChrX:153725828

Conflicting classifications of pathogenicity

Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10549976

rs_782137558

2 SubmittersRCV002345072 RCV003096819

NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)

SNV
Germline

ChrX:153726008

Conflicting classifications of pathogenicity

Inborn genetic diseases
Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10550008

rs_142058513

3 SubmittersRCV002385016 RCV003099633 RCV003138228

NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)

SNV
Germline

ChrX:153736349

Conflicting classifications of pathogenicity

Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550167

rs_782373145

3 SubmittersRCV002367142 RCV003103322

NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)

SNV
Germline

ChrX:153740150

Pathogenic/Likely pathogenic

Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415111279

rs_2522297188

2 SubmittersRCV002403288 RCV003100714

NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)

SNV
Germline

ChrX:153743511

Pathogenic

Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415118264

rs_2522304384

2 SubmittersRCV002417388 RCV003512178

NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)

SNV
Germline

ChrX:153740177

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111534

rs_2522297319

1 SubmittersRCV002468727

NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)

SNV
Germline

ChrX:153740131

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415111119

rs_2522297087

2 SubmittersRCV002470648

NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)

SNV
Germline

ChrX:153725517

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415098483

rs_2522264348

2 SubmittersRCV003138471 RCV003066398

NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)

SNV
Germline

ChrX:153725604

Likely pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415098653

rs_1322406234

2 SubmittersRCV003138472 RCV003066399

NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)

SNV
Germline

ChrX:153725735

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098924

rs_2148389233

1 SubmittersRCV003066400

NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)

SNV
Germline

ChrX:153725832

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
not specified
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA415099129

rs_1557052417

5 SubmittersRCV003138473 RCV003050668 RCV005059134 RCV004731318

NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)

SNV
Germline

ChrX:153729235

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100509

rs_2522275878

1 SubmittersRCV003066401

NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)

SNV
Germline

ChrX:153729347

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101119

rs_2091726726

1 SubmittersRCV003066402

NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)

SNV
Germline

ChrX:153736379

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415106116

rs_2091749942

1 SubmittersRCV003066403

NM_000033.4(ABCD1):c.1393+1G>A

SNV
Germline

ChrX:153736514

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415107666

rs_2522289737

1 SubmittersRCV003066404

NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)

SNV
Germline

ChrX:153740123

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111014

rs_2522297059

1 SubmittersRCV003066405

NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)

SNV
Germline

ChrX:153740123

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415111031

rs_2522297059

3 SubmittersRCV003050672 RCV003138475

NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)

SNV
Germline

ChrX:153740173

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111484

rs_2522297303

1 SubmittersRCV003050673

NM_000033.4(ABCD1):c.1991+1G>A

SNV
Germline

ChrX:153743347

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117922

rs_2522303766

1 SubmittersRCV003050674

NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)

SNV
Germline

ChrX:153737213

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108511

rs_2522291684

1 SubmittersRCV003078940

NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)

SNV
Germline

ChrX:153737204

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415108438

rs_1557054321

2 SubmittersRCV004719294 RCV003091160

NM_000033.4(ABCD1):c.371G>A (p.Arg124His)

SNV
Germline

ChrX:153725637

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA415098715

rs_1557052326

2 SubmittersRCV003084182 RCV004071818

NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)

SNV
Germline

ChrX:153729301

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415100783

rs_2522276173

2 SubmittersRCV003089500 RCV003138507

NM_000033.4(ABCD1):c.1489-2A>G

SNV
Germline

ChrX:153740090

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415110701

rs_2522296899

1 SubmittersRCV003079251

NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu)

SNV
Germline

ChrX:153736241

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10550155

rs_782567454

2 SubmittersRCV002651272 RCV004700968

NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)

SNV
Germline

ChrX:153726135

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy
ABCD1-related disorder

Criteria Provided
Conflicting Classifications

CA415100260

rs_868934170

5 SubmittersRCV002512421 RCV002569455 RCV003418544

NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)

SNV
Germline

ChrX:153725409

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337233527

rs_781803154

3 SubmittersRCV002626637 RCV003331383 RCV004656949

NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)

SNV
Germline

ChrX:153725940

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10549994

rs_782305445

2 SubmittersRCV002676401 RCV003138329

NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)

SNV
Germline

ChrX:153740599

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
ABCD1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10550291

rs_398123104

4 SubmittersRCV002760386 RCV004753579 RCV005601946 RCV005375151

NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)

SNV
Germline

ChrX:153726063

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099971

rs_2091711094

1 SubmittersRCV002731061

NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)

SNV
Germline

ChrX:153729337

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101043

rs_2522276290

1 SubmittersRCV002741931

NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)

SNV
Germline

ChrX:153736373

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415106078

rs_1046633404

1 SubmittersRCV002770187

NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)

SNV
Germline

ChrX:153740620

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415112693

rs_2091764566

2 SubmittersRCV002837993 RCV003232684

NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)

SNV
Germline

ChrX:153725717

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098883

rs_2522265685

1 SubmittersRCV002889427

NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)

SNV
Germline

ChrX:153729350

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101136

rs_2522276362

1 SubmittersRCV002886463

NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)

SNV
Germline

ChrX:153725358

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10549906

rs_782454198

2 SubmittersRCV002922346

NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)

SNV
Germline

ChrX:153729403

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10550070

rs_782673539

2 SubmittersRCV003011343 RCV003482434

NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)

SNV
Germline

ChrX:153736244

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415105633

rs_2522288539

2 SubmittersRCV003027006 RCV003138451

NM_000033.4(ABCD1):c.1224+2T>A

SNV
Germline

ChrX:153736256

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415105749

rs_2522288573

2 SubmittersRCV003043496

NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)

SNV
Germline

ChrX:153740652

Pathogenic/Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415112954

rs_2522298866

2 SubmittersRCV003048221

NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)

SNV
Germline

ChrX:153725696

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098838

rs_2522265591

1 SubmittersRCV003040508

NM_000033.4(ABCD1):c.1634+1G>C

SNV
Germline

ChrX:153740238

Pathogenic/Likely pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415112091

rs_1569541096

2 SubmittersRCV003139471 RCV003512192

NM_000033.4(ABCD1):c.1850G>C (p.Arg617Pro)

SNV
Germline

ChrX:153743056

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415116281

rs_11146842

2 SubmittersRCV003139501 RCV005099356

NM_000033.4(ABCD1):c.761C>A (p.Thr254Lys)

SNV
Germline

ChrX:153726027

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415099844

rs_1131691743

2 SubmittersRCV003139520 RCV005099357

NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)

SNV
Germline

ChrX:153725612

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098669

rs_398123110

1 SubmittersRCV003227538

NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)

SNV
Germline

ChrX:153743230

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116639

rs_1557055315

1 SubmittersRCV003230788

NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)

SNV
Germline

ChrX:153725486

Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415098421

rs_2522264062

2 SubmittersRCV003236250 RCV004593245

NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys)

SNV
Germline

ChrX:153725375

Conflicting classifications of pathogenicity

Inborn genetic diseases
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415097586

rs_1479670923

2 SubmittersRCV003310148 RCV003624511

NM_000033.4(ABCD1):c.848A>C (p.His283Pro)

SNV
Germline

ChrX:153726114

Conflicting classifications of pathogenicity

Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA415100170

rs_2148389929

2 SubmittersRCV003314419

NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)

SNV
Germline

ChrX:153743258

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA337242826

rs_201427153

5 SubmittersRCV003335976 RCV003491364 RCV004801339

NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)

SNV
Germline

ChrX:153729266

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100637

rs_2522276019

1 SubmittersRCV003397179

NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)

SNV
Unknown

ChrX:153743577

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415118738

rs_1268176383

1 SubmittersRCV003474058

NM_000033.4(ABCD1):c.1454C>A (p.Ser485Ter)

SNV
Germline

ChrX:153737217

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108563

rs_1603234759

1 SubmittersRCV004545908

NM_000033.4(ABCD1):c.1781-1G>T

SNV
Germline

ChrX:153742986

Pathogenic/Likely pathogenic

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415115596

rs_797044781

2 SubmittersRCV003491879 RCV005100324

NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)

SNV
Germline

ChrX:153737191

Conflicting classifications of pathogenicity

Condition: not provided
Adrenoleukodystrophy

Criteria Provided
Conflicting Classifications

CA10550219

rs_141446687

2 SubmittersRCV003489514 RCV003779262

NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)

SNV
Unknown

ChrX:153740617

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112676

rs_2091764526

1 SubmittersRCV003494087

NM_000033.4(ABCD1):c.1081+1G>C

SNV
Germline

ChrX:153729413

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415101368

rs_2091727061

1 SubmittersRCV003512437

NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)

SNV
Germline

ChrX:153726138

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100268

rs_2522268648

1 SubmittersRCV003513256

NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)

SNV
Germline

ChrX:153737241

Likely pathogenic

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415108810

rs_2522291808

2 SubmittersRCV003512999 RCV005054460

NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)

SNV
Germline

ChrX:153726096

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100095

rs_2091711473

1 SubmittersRCV003513232

NM_000033.4(ABCD1):c.455G>A (p.Arg152His)

SNV
Germline

ChrX:153725721

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098892

rs_1557052367

1 SubmittersRCV003513336

NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)

SNV
Germline

ChrX:153726090

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA337234735

rs_968415184

1 SubmittersRCV003513554

NM_000033.4(ABCD1):c.992A>T (p.Glu331Val)

SNV
Germline

ChrX:153729323

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100939

rs_1557053241

1 SubmittersRCV003513742

NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)

SNV
Germline

ChrX:153725365

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415097542

rs_2522263168

1 SubmittersRCV003513705

NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)

SNV
Germline

ChrX:153725516

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098480

rs_2091704834

1 SubmittersRCV003513706

NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)

SNV
Germline

ChrX:153725559

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098558

rs_1557052294

1 SubmittersRCV003513708

NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)

SNV
Germline

ChrX:153725625

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098691

rs_781797609

1 SubmittersRCV003513709

NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)

SNV
Germline

ChrX:153725694

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098837

rs_2522265580

1 SubmittersRCV003513710

NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)

SNV
Germline

ChrX:153725786

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099023

rs_128624217

1 SubmittersRCV003513711

NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)

SNV
Germline

ChrX:153726054

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099935

rs_2522268027

1 SubmittersRCV003513713

NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)

SNV
Germline

ChrX:153726102

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100118

rs_2522268363

1 SubmittersRCV003513714

NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)

SNV
Germline

ChrX:153726135

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100258

rs_868934170

1 SubmittersRCV003513715

NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)

SNV
Germline

ChrX:153729322

Conflicting classifications of pathogenicity

Adrenoleukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA415100925

rs_2522276239

2 SubmittersRCV003513716 RCV004701746

NM_000033.4(ABCD1):c.1394-2A>G

SNV
Germline

ChrX:153737155

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA337240334

rs_74315277

1 SubmittersRCV003513719

NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)

SNV
Germline

ChrX:153737241

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415108803

rs_2522291808

1 SubmittersRCV003513720

NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)

SNV
Germline

ChrX:153740203

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111770

rs_2522297431

1 SubmittersRCV003513721

NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)

SNV
Germline

ChrX:153740606

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112564

rs_2091764439

1 SubmittersRCV003513722

NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)

SNV
Germline

ChrX:153740711

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415113350

rs_1557054873

1 SubmittersRCV003513723

NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)

SNV
Germline

ChrX:153743273

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117048

rs_2522303423

1 SubmittersRCV003513724

NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)

SNV
Germline

ChrX:153736361

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415105969

rs_2522288938

1 SubmittersRCV003511600

NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)

SNV
Germline

ChrX:153736252

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415105727

rs_2522288561

1 SubmittersRCV003511643

NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)

SNV
Germline

ChrX:153743037

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116069

rs_2522302700

1 SubmittersRCV003513752

NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)

SNV
Germline

ChrX:153743316

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117620

rs_2091774046

1 SubmittersRCV003512634

NM_000033.4(ABCD1):c.1634+1G>T

SNV
Germline

ChrX:153740238

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415112094

rs_1569541096

1 SubmittersRCV003625136

NM_000033.4(ABCD1):c.1586G>T (p.Gly529Val)

SNV
Germline

ChrX:153740189

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415111642

rs_398123103

1 SubmittersRCV003625282

NM_000033.4(ABCD1):c.581A>T (p.Asp194Val)

SNV
Germline

ChrX:153725847

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099182

rs_781970658

1 SubmittersRCV003625417

NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)

SNV
Germline

ChrX:153725575

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415098592

rs_2522264773

1 SubmittersRCV003625421

NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)

SNV
Germline

ChrX:153726116

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100181

rs_2522268484

1 SubmittersRCV003625488

NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)

SNV
Germline

ChrX:153729248

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415100565

rs_2522275938

1 SubmittersRCV003625477

NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)

SNV
Germline

ChrX:153743232

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116663

rs_2522303280

1 SubmittersRCV003625604

NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)

SNV
Germline

ChrX:153725925

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415099440

rs_2091709142

1 SubmittersRCV003625949

NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)

SNV
Germline

ChrX:153743294

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415117327

rs_2522303497

1 SubmittersRCV003624099

NM_000033.4(ABCD1):c.1866-2A>T

SNV
Germline

ChrX:153743219

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

CA415116536

rs_2522303217

1 SubmittersRCV003991911

NM_000033.4(ABCD1):c.686T>C (p.Leu229Pro)

SNV
Unknown

ChrX:153725952

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

rs_2522267238

1 SubmittersRCV004574512

NM_000033.4(ABCD1):c.900+1G>C

SNV
Germline

ChrX:153726167

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004818922

NM_000033.4(ABCD1):c.892G>T (p.Gly298Cys)

SNV
Germline

ChrX:153726158

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005109487

NM_000033.4(ABCD1):c.1252C>G (p.Arg418Gly)

SNV
Germline

ChrX:153736372

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005109490

NM_000033.4(ABCD1):c.1831C>G (p.Gln611Glu)

SNV
Germline

ChrX:153743037

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005109493

NM_000033.4(ABCD1):c.1993A>T (p.Lys665Ter)

SNV
Germline

ChrX:153743490

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005114559

NM_000033.4(ABCD1):c.1781-1G>C

SNV
Germline

ChrX:153742986

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005132521

NM_000033.4(ABCD1):c.91A>T (p.Lys31Ter)

SNV
Germline

ChrX:153725357

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005142948

NM_000033.4(ABCD1):c.396G>A (p.Trp132Ter)

SNV
Germline

ChrX:153725662

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201482

NM_000033.4(ABCD1):c.532C>T (p.Gln178Ter)

SNV
Germline

ChrX:153725798

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201499

NM_000033.4(ABCD1):c.569T>C (p.Leu190Pro)

SNV
Germline

ChrX:153725835

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201500

NM_000033.4(ABCD1):c.668C>A (p.Ala223Asp)

SNV
Germline

ChrX:153725934

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201501

NM_000033.4(ABCD1):c.760A>C (p.Thr254Pro)

SNV
Germline

ChrX:153726026

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201502

NM_000033.4(ABCD1):c.900+1G>T

SNV
Germline

ChrX:153726167

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201505

NM_000033.4(ABCD1):c.906G>C (p.Glu302Asp)

SNV
Germline

ChrX:153729237

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201507

NM_000033.4(ABCD1):c.1531T>C (p.Cys511Arg)

SNV
Germline

ChrX:153740134

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201514

NM_000033.4(ABCD1):c.1640A>G (p.Tyr547Cys)

SNV
Germline

ChrX:153740579

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201518

NM_000033.4(ABCD1):c.1666C>T (p.Gln556Ter)

SNV
Germline

ChrX:153740605

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005201519

NM_000033.4(ABCD1):c.898G>T (p.Glu300Ter)

SNV
Germline

ChrX:153726164

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005194806

NM_000033.4(ABCD1):c.1489-1G>T

SNV
Germline

ChrX:153740091

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005207046

NM_000033.4(ABCD1):c.938T>C (p.Leu313Pro)

SNV
Germline

ChrX:153729269

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005215807

NM_000033.4(ABCD1):c.163C>T (p.Gln55Ter)

SNV
Unknown

ChrX:153725429

Pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005247980

NM_000033.4(ABCD1):c.1202G>T (p.Arg401Leu)

SNV
Germline

ChrX:153736232

Likely pathogenic

Adrenoleukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005418560

NM_000033.4(ABCD1):c.1082-2A>G

SNV
Germline

ChrX:153736110

Likely pathogenic

Adrenoleukodystrophy

No Assertion Criteria Provided

1 SubmittersRCV005610427