Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)	SNV Germline	Chr10:89225168	Pathogenic/Likely pathogenic	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113832	rs_121965086	5 SubmittersRCV000000095 RCV000000096
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)	SNV Germline	Chr10:89223710	Pathogenic	Lysosomal acid lipase deficiency Condition: not provided Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA213127	rs_267607218	6 SubmittersRCV000000097 RCV001562238 RCV001376562 RCV001804146
NM_000235.4(LIPA):c.894+1G>A	SNV Germline	Chr10:89222510	Pathogenic	Wolman disease	Criteria Provided Single Submitter		rs_1564751995	2 SubmittersRCV000000101
NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter)	SNV Germline	Chr10:89245776	Pathogenic	Wolman disease	Criteria Provided Single Submitter	CA113835	rs_121965087	2 SubmittersRCV000000102
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	SNV Germline	Chr10:89228368	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Condition: not provided Cholesteryl ester storage disease Wolman disease	Criteria Provided Multiple Submitters No Conflicts	CA347038	rs_587778878	10 SubmittersRCV000191997 RCV001269917 RCV003987346 RCV001376576
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)	SNV Germline	Chr10:89214915	Conflicting classifications of pathogenicity	not specified Wolman disease Condition: not provided Lysosomal acid lipase deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA200662	rs_116827211	10 SubmittersRCV000173660 RCV000369048 RCV000675913 RCV001083866 RCV002433762
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)	SNV Germline	Chr10:89222516	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Wolman disease LIPA-related disorder	Criteria Provided Conflicting Classifications	CA247503	rs_147426329	5 SubmittersRCV000180114 RCV003165377 RCV002516811 RCV004539691
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	SNV Germline	Chr10:89222511	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Condition: not provided LIPA-related disorder Wolman disease Cholesteryl ester storage disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA346907	rs_116928232	29 SubmittersRCV000185528 RCV000478829 RCV000778291 RCV001376623 RCV001823874 RCV002372140
NM_000235.4(LIPA):c.846A>G (p.Thr282=)	SNV Germline	Chr10:89222559	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593589	rs_534838107	5 SubmittersRCV000296316 RCV000673100 RCV001391322 RCV002446516
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)	SNV Germline	Chr10:89214900	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Lysosomal acid lipase deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593501	rs_200420117	4 SubmittersRCV000377392 RCV001400678 RCV001828188 RCV002319474
NM_000235.4(LIPA):c.870G>A (p.Val290=)	SNV Germline	Chr10:89222535	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Wolman disease	Criteria Provided Conflicting Classifications	CA5593587	rs_756950169	3 SubmittersRCV000311089 RCV002374479 RCV002059245
NM_000235.4(LIPA):c.885C>T (p.His295=)	SNV Germline	Chr10:89222520	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Wolman disease	Criteria Provided Conflicting Classifications	CA10606471	rs_886044197	3 SubmittersRCV000406448 RCV002446532 RCV001430761
NM_000235.4(LIPA):c.112-9T>C	SNV Germline	Chr10:89245802	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593809	rs_200186130	5 SubmittersRCV000675916 RCV001083223 RCV001450070 RCV004543131
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	SNV Germline	Chr10:89223752	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency not specified Cardiovascular phenotype Condition: not provided LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593621	rs_147493628	9 SubmittersRCV000287212 RCV000887810 RCV000478562 RCV002392837 RCV001705448 RCV004544508
NM_000235.4(LIPA):c.230-15A>G	SNV Germline	Chr10:89228413	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA5593776	rs_199978109	2 SubmittersRCV000260985 RCV001093932
NM_000235.4(LIPA):c.111+13A>G	SNV Germline	Chr10:89247525	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA5593823	rs_375237841	2 SubmittersRCV000316246 RCV001093973
NM_000235.4(LIPA):c.*876C>G	SNV Germline	Chr10:89213952	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA10632832	rs_141445686	1 SubmittersRCV000316780 RCV001093966
NM_000235.4(LIPA):c.1026G>A (p.Gly342=)	SNV Germline	Chr10:89215002	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA5593527	rs_550415126	2 SubmittersRCV000315518 RCV000981259
NM_000235.4(LIPA):c.891C>T (p.Ser297=)	SNV Germline	Chr10:89222514	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency Condition: not provided Cardiovascular phenotype not specified LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593582	rs_145066614	8 SubmittersRCV000322362 RCV000673075 RCV000594326 RCV002374515 RCV003993923 RCV004544507
NM_000235.4(LIPA):c.676-14T>A	SNV Germline	Chr10:89223844	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA10632848	rs_886047471	2 SubmittersRCV000338003 RCV001094047
NM_000235.4(LIPA):c.967-13C>A	SNV Germline	Chr10:89215074	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA5593539	rs_762226885	2 SubmittersRCV000271999 RCV001094027
NM_000235.4(LIPA):c.615C>T (p.Ser205=)	SNV Germline	Chr10:89225152	Conflicting classifications of pathogenicity	Wolman disease Condition: not provided Lysosomal acid lipase deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593673	rs_143930279	7 SubmittersRCV000313645 RCV000734099 RCV001082890 RCV002356414
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)	SNV Germline	Chr10:89215019	Conflicting classifications of pathogenicity	Wolman disease not specified Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA5593532	rs_143793106	5 SubmittersRCV000270478 RCV000596255 RCV000904697
NM_000235.4(LIPA):c.539-6T>C	SNV Germline	Chr10:89225234	Conflicting classifications of pathogenicity	Wolman disease not specified Lysosomal acid lipase deficiency LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593687	rs_201898154	5 SubmittersRCV000310076 RCV000733561 RCV000944060 RCV004544509
NM_000235.4(LIPA):c.894G>C (p.Gln298His)	SNV Germline	Chr10:89222511	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts	CA377516637	rs_116928232	3 SubmittersRCV000494734 RCV001865556
NM_000235.4(LIPA):c.656T>G (p.Leu219Ter)	SNV Germline	Chr10:89225111	Pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377517189	rs_1554865576	1 SubmittersRCV002231273
NM_000235.4(LIPA):c.396C>G (p.Leu132=)	SNV Germline	Chr10:89228232	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593749	rs_201603238	5 SubmittersRCV000598286 RCV001083196 RCV001507214 RCV002377226
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)	SNV Germline	Chr10:89223823	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease not specified LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593637	rs_2228159	6 SubmittersRCV000596849 RCV000665538 RCV001450065 RCV003488716 RCV004543344
NM_000235.4(LIPA):c.714G>A (p.Ala238=)	SNV Germline	Chr10:89223792	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593633	rs_139282720	4 SubmittersRCV000591044 RCV001456835 RCV003278933 RCV004543370
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)	SNV Germline	Chr10:89228334	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications	CA5593767	rs_767688436	3 SubmittersRCV000598187 RCV000857276 RCV001867978
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)	SNV Germline	Chr10:89228249	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications	CA5593752	rs_140686447	5 SubmittersRCV000633314 RCV002509479
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)	SNV Germline	Chr10:89228209	Pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_1457072724	3 SubmittersRCV000670570 RCV001376635
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)	SNV Germline	Chr10:89228345	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_1554866097	3 SubmittersRCV000669223 RCV002271556
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)	SNV Germline	Chr10:89228372	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_749180806	3 SubmittersRCV000671520 RCV001868255
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)	SNV Germline	Chr10:89215004	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_776472526	3 SubmittersRCV000671138 RCV001376593
NM_000235.4(LIPA):c.822+1G>A	SNV Germline	Chr10:89223683	Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_1204744283	2 SubmittersRCV000665567 RCV003495169
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)	SNV Germline	Chr10:89228319	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_766364179	3 SubmittersRCV000670582 RCV001855544
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)	SNV Germline	Chr10:89245712	Pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_779712562	5 SubmittersRCV000674535 RCV000760967
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)	SNV Germline	Chr10:89222513	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554865206	2 SubmittersRCV000672609 RCV003495171
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)	SNV Germline	Chr10:89214958	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_772684869	4 SubmittersRCV000667739 RCV001379331
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)	SNV Germline	Chr10:89225105	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease Cardiovascular phenotype LIPA-related disorder	Criteria Provided Conflicting Classifications		rs_145163592	5 SubmittersRCV000730763 RCV001080631 RCV001450075 RCV002360730 RCV004535714
NM_000235.4(LIPA):c.618C>T (p.Val206=)	SNV Germline	Chr10:89225149	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_763651849	3 SubmittersRCV000729468 RCV002060976 RCV002352245
NM_000235.4(LIPA):c.539-5C>A	SNV Germline	Chr10:89225233	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_2297472	4 SubmittersRCV000729734 RCV001250116 RCV001485702
NM_000235.4(LIPA):c.42C>T (p.Leu14=)	SNV Germline	Chr10:89247607	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease	Criteria Provided Conflicting Classifications		rs_1314994550	2 SubmittersRCV000730331 RCV002060992
NM_000235.4(LIPA):c.1077G>A (p.Gln359=)	SNV Germline	Chr10:89214951	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_538507117	3 SubmittersRCV000730340 RCV001478361 RCV002422627
NM_000235.4(LIPA):c.279T>C (p.Ser93=)	SNV Germline	Chr10:89228349	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1011619050	3 SubmittersRCV000730608 RCV001080720 RCV002440571
NM_000235.4(LIPA):c.43T>C (p.Trp15Arg)	SNV Germline	Chr10:89247606	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease	Criteria Provided Conflicting Classifications		rs_758797771	2 SubmittersRCV000731044 RCV002536457
NM_000235.4(LIPA):c.615C>G (p.Ser205=)	SNV Germline	Chr10:89225152	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_143930279	4 SubmittersRCV000731120 RCV001087324 RCV001450085 RCV002352248
NM_000235.4(LIPA):c.676-23T>C	SNV Germline	Chr10:89223853	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease	Criteria Provided Conflicting Classifications		rs_140488274	2 SubmittersRCV000731177 RCV001480060
NM_000235.4(LIPA):c.1032C>G (p.His344Gln)	SNV Germline	Chr10:89214996	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_779601441	3 SubmittersRCV000731569 RCV001855763 RCV002388367
NM_000235.4(LIPA):c.1005G>A (p.Val335=)	SNV Germline	Chr10:89215023	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease	Criteria Provided Conflicting Classifications		rs_1564748606	2 SubmittersRCV000731650 RCV003598000
NM_000235.4(LIPA):c.483T>C (p.Asn161=)	SNV Germline	Chr10:89226950	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Wolman disease	Criteria Provided Conflicting Classifications		rs_369755163	3 SubmittersRCV000732148 RCV002334412 RCV001081192
NM_000235.4(LIPA):c.342C>T (p.Asp114=)	SNV Germline	Chr10:89228286	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Lysosomal acid lipase deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_371133960	5 SubmittersRCV000735162 RCV001084387 RCV001825487 RCV002458353
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)	SNV Germline	Chr10:89214972	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype LIPA-related disorder	Criteria Provided Conflicting Classifications		rs_1564748504	4 SubmittersRCV000735186 RCV001493164 RCV002397520 RCV004535886
NM_000235.4(LIPA):c.111+1G>A	SNV Germline	Chr10:89247537	Pathogenic/Likely pathogenic	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_762960877	2 SubmittersRCV002234746 RCV003225126
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)	SNV Germline	Chr10:89214870	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_529668674	2 SubmittersRCV000857249 RCV001858534
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)	SNV Germline	Chr10:89214908	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Condition: not provided Wolman disease	Criteria Provided Conflicting Classifications		rs_367664486	3 SubmittersRCV000857250 RCV003480881 RCV002536215
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr)	SNV Germline	Chr10:89214922	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_747214463	2 SubmittersRCV000857251 RCV002536216
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)	SNV Germline	Chr10:89214995	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_1446626293	2 SubmittersRCV000857253 RCV001382524
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)	SNV Germline	Chr10:89215973	Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_1589548972	2 SubmittersRCV000857257 RCV003323742
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)	SNV Germline	Chr10:89215984	Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_754964952	4 SubmittersRCV000857259 RCV001869315 RCV003489942
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser)	SNV Germline	Chr10:89222524	Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_756310979	2 SubmittersRCV000857260 RCV003495186
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro)	SNV Germline	Chr10:89226978	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_748267444	2 SubmittersRCV000857266 RCV001379703
NM_000235.4(LIPA):c.386A>G (p.His129Arg)	SNV Germline	Chr10:89228242	Pathogenic/Likely pathogenic	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1423914418	2 SubmittersRCV001858535 RCV000857269
NM_000235.4(LIPA):c.367A>G (p.Asn123Asp)	SNV Germline	Chr10:89228261	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_771904218	2 SubmittersRCV000857272 RCV001858536
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)	SNV Germline	Chr10:89228267	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_912441212	2 SubmittersRCV000857273 RCV001858537
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)	SNV Germline	Chr10:89228374	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_1589558414	2 SubmittersRCV000857277 RCV001858538
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)	SNV Germline	Chr10:89228375	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_797045094	3 SubmittersRCV000857278 RCV001858539
NM_000235.4(LIPA):c.318C>T (p.Phe106=)	SNV Germline	Chr10:89228310	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications		rs_1438679981	3 SubmittersRCV001102772 RCV001397169
NM_000235.4(LIPA):c.538+4T>A	SNV Germline	Chr10:89226891	Conflicting classifications of pathogenicity	Wolman disease Lysosomal acid lipase deficiency LIPA-related disorder	Criteria Provided Conflicting Classifications		rs_779872404	3 SubmittersRCV001051986 RCV001832477 RCV004545030
NM_000235.4(LIPA):c.600G>A (p.Leu200=)	SNV Germline	Chr10:89225167	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Cholesteryl ester storage disease Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_1172318248	4 SubmittersRCV001075889 RCV001449673 RCV001862637
NM_000235.4(LIPA):c.406C>T (p.Gln136Ter)	SNV Germline	Chr10:89228222	Pathogenic	Wolman disease	Criteria Provided Single Submitter		rs_1842794747	1 SubmittersRCV001217822
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)	SNV Germline	Chr10:89226912	Likely pathogenic	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Single Submitter		rs_1842777072	2 SubmittersRCV001203433 RCV001833789
NM_000235.4(LIPA):c.676-2A>T	SNV Germline	Chr10:89223832	Pathogenic	Wolman disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_747508159	2 SubmittersRCV001208508 RCV003487280
NM_000235.4(LIPA):c.539-2A>G	SNV Germline	Chr10:89225230	Pathogenic	Wolman disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_762143630	2 SubmittersRCV001228209 RCV003490140
NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter)	SNV Germline	Chr10:89214961	Pathogenic	Wolman disease	Criteria Provided Single Submitter		rs_2133411704	1 SubmittersRCV001382237
NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter)	SNV Germline	Chr10:89215953	Pathogenic	Wolman disease	Criteria Provided Single Submitter		rs_760413481	1 SubmittersRCV001903419
NM_000235.4(LIPA):c.675+2T>G	SNV Germline	Chr10:89225090	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter		rs_1564753490	1 SubmittersRCV002027384
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)	SNV Germline	Chr10:89215975	Pathogenic	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2133413584	2 SubmittersRCV001942247 RCV003147713
NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg)	SNV Germline	Chr10:89215004	Pathogenic	Wolman disease	Criteria Provided Single Submitter		rs_776472526	1 SubmittersRCV002041867
NM_000235.4(LIPA):c.652C>T (p.Arg218Ter)	SNV Germline	Chr10:89225115	Pathogenic	Wolman disease	Criteria Provided Multiple Submitters No Conflicts		rs_771330022	2 SubmittersRCV001951298
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)	SNV Germline	Chr10:89245774	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002309838 RCV003598071
NM_000235.4(LIPA):c.611C>T (p.Ala204Val)	SNV Germline	Chr10:89225156	Conflicting classifications of pathogenicity	Cardiovascular phenotype Wolman disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV002360267 RCV003098145
NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)	SNV Germline	Chr10:89215044	Pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003064968
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)	SNV Germline	Chr10:89223812	Pathogenic/Likely pathogenic	Wolman disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002643829
NM_000235.4(LIPA):c.112-1G>C	SNV Germline	Chr10:89245794	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV002825000
NM_000235.4(LIPA):c.884A>C (p.His295Pro)	SNV Germline	Chr10:89222521	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV002880565
NM_000235.4(LIPA):c.37G>A (p.Val13Ile)	SNV Germline	Chr10:89247612	Conflicting classifications of pathogenicity	Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications			2 SubmittersRCV002934051 RCV004068086
NM_000235.4(LIPA):c.1122T>G (p.His374Gln)	SNV Germline	Chr10:89214906	Likely pathogenic	Wolman disease	No Assertion Criteria Provided			1 SubmittersRCV003234749
NM_000235.4(LIPA):c.428+2T>C	SNV Germline	Chr10:89228198	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003496254
NM_000235.4(LIPA):c.822+1G>T	SNV Germline	Chr10:89223683	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003496139
NM_000235.4(LIPA):c.538+5G>A	SNV Germline	Chr10:89226890	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003494667
NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)	SNV Germline	Chr10:89215940	Pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003598957
NM_000235.4(LIPA):c.823-1G>A	SNV Germline	Chr10:89222583	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003599612
NM_000235.4(LIPA):c.823-2A>G	SNV Germline	Chr10:89222584	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003597774
NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)	SNV Germline	Chr10:89245773	Pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV003597921

NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)

SNV
Germline

Chr10:89225168

Pathogenic/Likely pathogenic

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113832

rs_121965086

5 SubmittersRCV000000095 RCV000000096

NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)

SNV
Germline

Chr10:89223710

Pathogenic

Lysosomal acid lipase deficiency
Condition: not provided
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA213127

rs_267607218

6 SubmittersRCV000000097 RCV001562238 RCV001376562 RCV001804146

NM_000235.4(LIPA):c.894+1G>A

SNV
Germline

Chr10:89222510

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

rs_1564751995

2 SubmittersRCV000000101

NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter)

SNV
Germline

Chr10:89245776

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA113835

rs_121965087

2 SubmittersRCV000000102

NM_000235.4(LIPA):c.260G>T (p.Gly87Val)

SNV
Germline

Chr10:89228368

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Condition: not provided
Cholesteryl ester storage disease
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

CA347038

rs_587778878

10 SubmittersRCV000191997 RCV001269917 RCV003987346 RCV001376576

NM_000235.4(LIPA):c.1113A>G (p.Glu371=)

SNV
Germline

Chr10:89214915

Conflicting classifications of pathogenicity

not specified
Wolman disease
Condition: not provided
Lysosomal acid lipase deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA200662

rs_116827211

10 SubmittersRCV000173660 RCV000369048 RCV000675913 RCV001083866 RCV002433762

NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)

SNV
Germline

Chr10:89222516

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Wolman disease
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA247503

rs_147426329

5 SubmittersRCV000180114 RCV003165377 RCV002516811 RCV004539691

NM_000235.4(LIPA):c.894G>A (p.Gln298=)

SNV
Germline

Chr10:89222511

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Condition: not provided
LIPA-related disorder
Wolman disease
Cholesteryl ester storage disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA346907

rs_116928232

29 SubmittersRCV000185528 RCV000478829 RCV000778291 RCV001376623 RCV001823874 RCV002372140

NM_000235.4(LIPA):c.846A>G (p.Thr282=)

SNV
Germline

Chr10:89222559

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593589

rs_534838107

5 SubmittersRCV000296316 RCV000673100 RCV001391322 RCV002446516

NM_000235.4(LIPA):c.1128C>T (p.Asp376=)

SNV
Germline

Chr10:89214900

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Lysosomal acid lipase deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593501

rs_200420117

4 SubmittersRCV000377392 RCV001400678 RCV001828188 RCV002319474

NM_000235.4(LIPA):c.870G>A (p.Val290=)

SNV
Germline

Chr10:89222535

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Wolman disease

Criteria Provided
Conflicting Classifications

CA5593587

rs_756950169

3 SubmittersRCV000311089 RCV002374479 RCV002059245

NM_000235.4(LIPA):c.885C>T (p.His295=)

SNV
Germline

Chr10:89222520

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Wolman disease

Criteria Provided
Conflicting Classifications

CA10606471

rs_886044197

3 SubmittersRCV000406448 RCV002446532 RCV001430761

NM_000235.4(LIPA):c.112-9T>C

SNV
Germline

Chr10:89245802

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593809

rs_200186130

5 SubmittersRCV000675916 RCV001083223 RCV001450070 RCV004543131

NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)

SNV
Germline

Chr10:89223752

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency
not specified
Cardiovascular phenotype
Condition: not provided
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593621

rs_147493628

9 SubmittersRCV000287212 RCV000887810 RCV000478562 RCV002392837 RCV001705448 RCV004544508

NM_000235.4(LIPA):c.230-15A>G

SNV
Germline

Chr10:89228413

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA5593776

rs_199978109

2 SubmittersRCV000260985 RCV001093932

NM_000235.4(LIPA):c.111+13A>G

SNV
Germline

Chr10:89247525

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA5593823

rs_375237841

2 SubmittersRCV000316246 RCV001093973

NM_000235.4(LIPA):c.*876C>G

SNV
Germline

Chr10:89213952

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA10632832

rs_141445686

1 SubmittersRCV000316780 RCV001093966

NM_000235.4(LIPA):c.1026G>A (p.Gly342=)

SNV
Germline

Chr10:89215002

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA5593527

rs_550415126

2 SubmittersRCV000315518 RCV000981259

NM_000235.4(LIPA):c.891C>T (p.Ser297=)

SNV
Germline

Chr10:89222514

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency
Condition: not provided
Cardiovascular phenotype
not specified
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593582

rs_145066614

8 SubmittersRCV000322362 RCV000673075 RCV000594326 RCV002374515 RCV003993923 RCV004544507

NM_000235.4(LIPA):c.676-14T>A

SNV
Germline

Chr10:89223844

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA10632848

rs_886047471

2 SubmittersRCV000338003 RCV001094047

NM_000235.4(LIPA):c.967-13C>A

SNV
Germline

Chr10:89215074

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA5593539

rs_762226885

2 SubmittersRCV000271999 RCV001094027

NM_000235.4(LIPA):c.615C>T (p.Ser205=)

SNV
Germline

Chr10:89225152

Conflicting classifications of pathogenicity

Wolman disease
Condition: not provided
Lysosomal acid lipase deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593673

rs_143930279

7 SubmittersRCV000313645 RCV000734099 RCV001082890 RCV002356414

NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)

SNV
Germline

Chr10:89215019

Conflicting classifications of pathogenicity

Wolman disease
not specified
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA5593532

rs_143793106

5 SubmittersRCV000270478 RCV000596255 RCV000904697

NM_000235.4(LIPA):c.539-6T>C

SNV
Germline

Chr10:89225234

Conflicting classifications of pathogenicity

Wolman disease
not specified
Lysosomal acid lipase deficiency
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593687

rs_201898154

5 SubmittersRCV000310076 RCV000733561 RCV000944060 RCV004544509

NM_000235.4(LIPA):c.894G>C (p.Gln298His)

SNV
Germline

Chr10:89222511

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377516637

rs_116928232

3 SubmittersRCV000494734 RCV001865556

NM_000235.4(LIPA):c.656T>G (p.Leu219Ter)

SNV
Germline

Chr10:89225111

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377517189

rs_1554865576

1 SubmittersRCV002231273

NM_000235.4(LIPA):c.396C>G (p.Leu132=)

SNV
Germline

Chr10:89228232

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593749

rs_201603238

5 SubmittersRCV000598286 RCV001083196 RCV001507214 RCV002377226

NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)

SNV
Germline

Chr10:89223823

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease
not specified
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593637

rs_2228159

6 SubmittersRCV000596849 RCV000665538 RCV001450065 RCV003488716 RCV004543344

NM_000235.4(LIPA):c.714G>A (p.Ala238=)

SNV
Germline

Chr10:89223792

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Cardiovascular phenotype
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593633

rs_139282720

4 SubmittersRCV000591044 RCV001456835 RCV003278933 RCV004543370

NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)

SNV
Germline

Chr10:89228334

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

CA5593767

rs_767688436

3 SubmittersRCV000598187 RCV000857276 RCV001867978

NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)

SNV
Germline

Chr10:89228249

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

CA5593752

rs_140686447

5 SubmittersRCV000633314 RCV002509479

NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)

SNV
Germline

Chr10:89228209

Pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1457072724

3 SubmittersRCV000670570 RCV001376635

NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)

SNV
Germline

Chr10:89228345

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_1554866097

3 SubmittersRCV000669223 RCV002271556

NM_000235.4(LIPA):c.256C>T (p.His86Tyr)

SNV
Germline

Chr10:89228372

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_749180806

3 SubmittersRCV000671520 RCV001868255

NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)

SNV
Germline

Chr10:89215004

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_776472526

3 SubmittersRCV000671138 RCV001376593

NM_000235.4(LIPA):c.822+1G>A

SNV
Germline

Chr10:89223683

Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1204744283

2 SubmittersRCV000665567 RCV003495169

NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)

SNV
Germline

Chr10:89228319

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_766364179

3 SubmittersRCV000670582 RCV001855544

NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)

SNV
Germline

Chr10:89245712

Pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_779712562

5 SubmittersRCV000674535 RCV000760967

NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr10:89222513

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554865206

2 SubmittersRCV000672609 RCV003495171

NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)

SNV
Germline

Chr10:89214958

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_772684869

4 SubmittersRCV000667739 RCV001379331

NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)

SNV
Germline

Chr10:89225105

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease
Cardiovascular phenotype
LIPA-related disorder

Criteria Provided
Conflicting Classifications

rs_145163592

5 SubmittersRCV000730763 RCV001080631 RCV001450075 RCV002360730 RCV004535714

NM_000235.4(LIPA):c.618C>T (p.Val206=)

SNV
Germline

Chr10:89225149

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_763651849

3 SubmittersRCV000729468 RCV002060976 RCV002352245

NM_000235.4(LIPA):c.539-5C>A

SNV
Germline

Chr10:89225233

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_2297472

4 SubmittersRCV000729734 RCV001250116 RCV001485702

NM_000235.4(LIPA):c.42C>T (p.Leu14=)

SNV
Germline

Chr10:89247607

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease

Criteria Provided
Conflicting Classifications

rs_1314994550

2 SubmittersRCV000730331 RCV002060992

NM_000235.4(LIPA):c.1077G>A (p.Gln359=)

SNV
Germline

Chr10:89214951

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_538507117

3 SubmittersRCV000730340 RCV001478361 RCV002422627

NM_000235.4(LIPA):c.279T>C (p.Ser93=)

SNV
Germline

Chr10:89228349

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1011619050

3 SubmittersRCV000730608 RCV001080720 RCV002440571

NM_000235.4(LIPA):c.43T>C (p.Trp15Arg)

SNV
Germline

Chr10:89247606

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease

Criteria Provided
Conflicting Classifications

rs_758797771

2 SubmittersRCV000731044 RCV002536457

NM_000235.4(LIPA):c.615C>G (p.Ser205=)

SNV
Germline

Chr10:89225152

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_143930279

4 SubmittersRCV000731120 RCV001087324 RCV001450085 RCV002352248

NM_000235.4(LIPA):c.676-23T>C

SNV
Germline

Chr10:89223853

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease

Criteria Provided
Conflicting Classifications

rs_140488274

2 SubmittersRCV000731177 RCV001480060

NM_000235.4(LIPA):c.1032C>G (p.His344Gln)

SNV
Germline

Chr10:89214996

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_779601441

3 SubmittersRCV000731569 RCV001855763 RCV002388367

NM_000235.4(LIPA):c.1005G>A (p.Val335=)

SNV
Germline

Chr10:89215023

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease

Criteria Provided
Conflicting Classifications

rs_1564748606

2 SubmittersRCV000731650 RCV003598000

NM_000235.4(LIPA):c.483T>C (p.Asn161=)

SNV
Germline

Chr10:89226950

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Wolman disease

Criteria Provided
Conflicting Classifications

rs_369755163

3 SubmittersRCV000732148 RCV002334412 RCV001081192

NM_000235.4(LIPA):c.342C>T (p.Asp114=)

SNV
Germline

Chr10:89228286

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Lysosomal acid lipase deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_371133960

5 SubmittersRCV000735162 RCV001084387 RCV001825487 RCV002458353

NM_000235.4(LIPA):c.1056C>T (p.Asp352=)

SNV
Germline

Chr10:89214972

Conflicting classifications of pathogenicity

Condition: not provided
Wolman disease
Cardiovascular phenotype
LIPA-related disorder

Criteria Provided
Conflicting Classifications

rs_1564748504

4 SubmittersRCV000735186 RCV001493164 RCV002397520 RCV004535886

NM_000235.4(LIPA):c.111+1G>A

SNV
Germline

Chr10:89247537

Pathogenic/Likely pathogenic

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_762960877

2 SubmittersRCV002234746 RCV003225126

NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)

SNV
Germline

Chr10:89214870

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_529668674

2 SubmittersRCV000857249 RCV001858534

NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)

SNV
Germline

Chr10:89214908

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Condition: not provided
Wolman disease

Criteria Provided
Conflicting Classifications

rs_367664486

3 SubmittersRCV000857250 RCV003480881 RCV002536215

NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr)

SNV
Germline

Chr10:89214922

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_747214463

2 SubmittersRCV000857251 RCV002536216

NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)

SNV
Germline

Chr10:89214995

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1446626293

2 SubmittersRCV000857253 RCV001382524

NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)

SNV
Germline

Chr10:89215973

Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1589548972

2 SubmittersRCV000857257 RCV003323742

NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)

SNV
Germline

Chr10:89215984

Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754964952

4 SubmittersRCV000857259 RCV001869315 RCV003489942

NM_000235.4(LIPA):c.881T>C (p.Leu294Ser)

SNV
Germline

Chr10:89222524

Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_756310979

2 SubmittersRCV000857260 RCV003495186

NM_000235.4(LIPA):c.455T>C (p.Leu152Pro)

SNV
Germline

Chr10:89226978

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_748267444

2 SubmittersRCV000857266 RCV001379703

NM_000235.4(LIPA):c.386A>G (p.His129Arg)

SNV
Germline

Chr10:89228242

Pathogenic/Likely pathogenic

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1423914418

2 SubmittersRCV001858535 RCV000857269

NM_000235.4(LIPA):c.367A>G (p.Asn123Asp)

SNV
Germline

Chr10:89228261

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_771904218

2 SubmittersRCV000857272 RCV001858536

NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)

SNV
Germline

Chr10:89228267

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_912441212

2 SubmittersRCV000857273 RCV001858537

NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)

SNV
Germline

Chr10:89228374

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1589558414

2 SubmittersRCV000857277 RCV001858538

NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)

SNV
Germline

Chr10:89228375

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_797045094

3 SubmittersRCV000857278 RCV001858539

NM_000235.4(LIPA):c.318C>T (p.Phe106=)

SNV
Germline

Chr10:89228310

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

rs_1438679981

3 SubmittersRCV001102772 RCV001397169

NM_000235.4(LIPA):c.538+4T>A

SNV
Germline

Chr10:89226891

Conflicting classifications of pathogenicity

Wolman disease
Lysosomal acid lipase deficiency
LIPA-related disorder

Criteria Provided
Conflicting Classifications

rs_779872404

3 SubmittersRCV001051986 RCV001832477 RCV004545030

NM_000235.4(LIPA):c.600G>A (p.Leu200=)

SNV
Germline

Chr10:89225167

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Cholesteryl ester storage disease
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1172318248

4 SubmittersRCV001075889 RCV001449673 RCV001862637

NM_000235.4(LIPA):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr10:89228222

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

rs_1842794747

1 SubmittersRCV001217822

NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)

SNV
Germline

Chr10:89226912

Likely pathogenic

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Single Submitter

rs_1842777072

2 SubmittersRCV001203433 RCV001833789

NM_000235.4(LIPA):c.676-2A>T

SNV
Germline

Chr10:89223832

Pathogenic

Wolman disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_747508159

2 SubmittersRCV001208508 RCV003487280

NM_000235.4(LIPA):c.539-2A>G

SNV
Germline

Chr10:89225230

Pathogenic

Wolman disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_762143630

2 SubmittersRCV001228209 RCV003490140

NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter)

SNV
Germline

Chr10:89214961

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

rs_2133411704

1 SubmittersRCV001382237

NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter)

SNV
Germline

Chr10:89215953

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

rs_760413481

1 SubmittersRCV001903419

NM_000235.4(LIPA):c.675+2T>G

SNV
Germline

Chr10:89225090

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

rs_1564753490

1 SubmittersRCV002027384

NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)

SNV
Germline

Chr10:89215975

Pathogenic

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2133413584

2 SubmittersRCV001942247 RCV003147713

NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg)

SNV
Germline

Chr10:89215004

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

rs_776472526

1 SubmittersRCV002041867

NM_000235.4(LIPA):c.652C>T (p.Arg218Ter)

SNV
Germline

Chr10:89225115

Pathogenic

Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_771330022

2 SubmittersRCV001951298

NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)

SNV
Germline

Chr10:89245774

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309838 RCV003598071

NM_000235.4(LIPA):c.611C>T (p.Ala204Val)

SNV
Germline

Chr10:89225156

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Wolman disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002360267 RCV003098145

NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)

SNV
Germline

Chr10:89215044

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003064968

NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)

SNV
Germline

Chr10:89223812

Pathogenic/Likely pathogenic

Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002643829

NM_000235.4(LIPA):c.112-1G>C

SNV
Germline

Chr10:89245794

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV002825000

NM_000235.4(LIPA):c.884A>C (p.His295Pro)

SNV
Germline

Chr10:89222521

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV002880565

NM_000235.4(LIPA):c.37G>A (p.Val13Ile)

SNV
Germline

Chr10:89247612

Conflicting classifications of pathogenicity

Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002934051 RCV004068086

NM_000235.4(LIPA):c.1122T>G (p.His374Gln)

SNV
Germline

Chr10:89214906

Likely pathogenic

Wolman disease

No Assertion Criteria Provided

1 SubmittersRCV003234749

NM_000235.4(LIPA):c.428+2T>C

SNV
Germline

Chr10:89228198

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003496254

NM_000235.4(LIPA):c.822+1G>T

SNV
Germline

Chr10:89223683

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003496139

NM_000235.4(LIPA):c.538+5G>A

SNV
Germline

Chr10:89226890

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003494667

NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)

SNV
Germline

Chr10:89215940

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003598957

NM_000235.4(LIPA):c.823-1G>A

SNV
Germline

Chr10:89222583

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003599612

NM_000235.4(LIPA):c.823-2A>G

SNV
Germline

Chr10:89222584

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003597774

NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)

SNV
Germline

Chr10:89245773

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV003597921