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	Wolman disease Lysosomal acid lipase deficiency Cardiovascular phenotype Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA113832	rs_121965086	7 SubmittersRCV000000095 RCV000000096 RCV006342068 RCV005430456
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)	SNV Germline	Chr10:89223710	Pathogenic	Lysosomal acid lipase deficiency Wolman disease Condition: not provided Cholesteryl ester storage disease Cholesteryl ester storage disease Wolman disease LIPA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA213127	rs_267607218	8 SubmittersRCV000000097 RCV001376562 RCV001562238 RCV001804146 RCV005041960 RCV005867716
NM_000235.4(LIPA):c.894+1G>A	SNV Germline	Chr10:89222510	Pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516634	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	Lysosomal acid lipase deficiency Condition: not provided Wolman disease Cholesteryl ester storage disease Cholesteryl ester storage disease Wolman disease	Criteria Provided Multiple Submitters No Conflicts	CA347038	rs_587778878	11 SubmittersRCV000191997 RCV001269917 RCV001376576 RCV003987346 RCV005003452
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 Cholesteryl ester storage disease Wolman disease Acute myeloid leukemia Hepatocellular carcinoma Melanoma Malignant tumor of urinary bladder Lung cancer Familial cancer of breast Colorectal cancer Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA346907	rs_116928232	36 SubmittersRCV000185528 RCV000478829 RCV000778291 RCV001376623 RCV001823874 RCV002372140 RCV005003537 RCV005892122 RCV005892124 RCV005892127 RCV005892123 RCV005892128 RCV005892121 RCV005892125 RCV005892126
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 Cholesteryl ester storage disease	Criteria Provided Conflicting Classifications	CA5593589	rs_534838107	6 SubmittersRCV000296316 RCV000673100 RCV001391322 RCV002446516 RCV005430519
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 Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593587	rs_756950169	3 SubmittersRCV000311089 RCV002059245 RCV002374479
NM_000235.4(LIPA):c.885C>T (p.His295=)	SNV Germline	Chr10:89222520	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA10606471	rs_886044197	4 SubmittersRCV000406448 RCV001430761 RCV002446532 RCV004820014
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 not specified Lysosomal acid lipase deficiency Condition: not provided Cardiovascular phenotype LIPA-related disorder Colon adenocarcinoma Cholangiocarcinoma Melanoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA5593621	rs_147493628	11 SubmittersRCV000287212 RCV000478562 RCV000887810 RCV001705448 RCV002392837 RCV004544508 RCV005891912 RCV005891915 RCV005891914 RCV005891913
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.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 Condition: not provided Lysosomal acid lipase deficiency Cardiovascular phenotype LIPA-related disorder not specified Cholesteryl ester storage disease	Criteria Provided Conflicting Classifications	CA5593582	rs_145066614	10 SubmittersRCV000322362 RCV000594326 RCV000673075 RCV002374515 RCV004544507 RCV003993923 RCV005430524
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.380G>A (p.Arg127Gln)	SNV Germline	Chr10:89228248	Conflicting classifications of pathogenicity	Wolman disease Condition: not provided Lysosomal acid lipase deficiency LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593751	rs_544080483	5 SubmittersRCV000265603 RCV000594785 RCV001093931 RCV004734963
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	9 SubmittersRCV000313645 RCV000734099 RCV001082890 RCV002356414
NM_000235.4(LIPA):c.894G>C (p.Gln298His)	SNV Germline	Chr10:89222511	Pathogenic/Likely pathogenic	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA377516637	rs_116928232	3 SubmittersRCV001865556 RCV000494734
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 Cardiovascular phenotype Cholesteryl ester storage disease	Criteria Provided Conflicting Classifications	CA5593637	rs_2228159	9 SubmittersRCV000596849 RCV000665538 RCV001450065 RCV003488716 RCV004543344 RCV004992373 RCV005430373
NM_000235.4(LIPA):c.714G>A (p.Ala238=)	SNV Germline	Chr10:89223792	Conflicting classifications of pathogenicity	Condition: not provided Wolman disease Cardiovascular phenotype Lysosomal acid lipase deficiency LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593633	rs_139282720	5 SubmittersRCV000591044 RCV001456835 RCV003278933 RCV004820062 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.428+1G>A	SNV Germline	Chr10:89228199	Pathogenic	Cholesteryl ester storage disease Wolman disease	Criteria Provided Single Submitter	CA377517715	rs_1554866004	2 SubmittersRCV005430793 RCV006463856
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)	SNV Germline	Chr10:89228209	Pathogenic	Lysosomal acid lipase deficiency Wolman disease Cholesteryl ester storage disease	Criteria Provided Single Submitter	CA377517743	rs_1457072724	3 SubmittersRCV000670570 RCV001376635 RCV005430671
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)	SNV Germline	Chr10:89228345	Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA377518046	rs_1554866097	3 SubmittersRCV000669223 RCV002271556 RCV005430619
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)	SNV Germline	Chr10:89228372	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease Cholesteryl ester storage disease	Criteria Provided Conflicting Classifications	CA5593770	rs_749180806	3 SubmittersRCV000671520 RCV001868255 RCV005430704
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)	SNV Germline	Chr10:89215004	Pathogenic	Lysosomal acid lipase deficiency Wolman disease Cholesteryl ester storage disease	Criteria Provided Single Submitter	CA5593529	rs_776472526	3 SubmittersRCV000671138 RCV001376593 RCV005430691
NM_000235.4(LIPA):c.822+1G>A	SNV Germline	Chr10:89223683	Likely pathogenic	Wolman disease Cholesteryl ester storage disease	Criteria Provided Single Submitter	CA377516807	rs_1204744283	2 SubmittersRCV003495169 RCV005430411
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)	SNV Germline	Chr10:89228319	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease Cholesteryl ester storage disease Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA5593764	rs_766364179	4 SubmittersRCV000670582 RCV001855544 RCV005430672 RCV005046889
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)	SNV Germline	Chr10:89245712	Pathogenic	Lysosomal acid lipase deficiency Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA5593792	rs_779712562	5 SubmittersRCV000674535 RCV000760967 RCV005430811
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)	SNV Germline	Chr10:89222513	Pathogenic	Wolman disease Cholesteryl ester storage disease	Criteria Provided Single Submitter	CA377516641	rs_1554865206	2 SubmittersRCV003495171 RCV005430737
NM_000235.4(LIPA):c.883C>T (p.His295Tyr)	SNV Germline	Chr10:89222522	Likely pathogenic	Wolman disease Cholesteryl ester storage disease Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA377516664	rs_1554865214	3 SubmittersRCV004689845 RCV005430724 RCV005046896
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)	SNV Germline	Chr10:89214958	Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA5593513	rs_772684869	4 SubmittersRCV000667739 RCV001379331 RCV005430573
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 Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Clear cell carcinoma of kidney Sarcoma	Criteria Provided Conflicting Classifications	CA5593658	rs_145163592	7 SubmittersRCV000730763 RCV001080631 RCV001450075 RCV002360730 RCV004535714 RCV005901642 RCV005901643 RCV005901644 RCV005901645
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	CA5593670	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 LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593686	rs_2297472	5 SubmittersRCV000729734 RCV001250116 RCV001485702 RCV004735775
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	CA470737443	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	CA5593512	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 Lysosomal acid lipase deficiency	Criteria Provided Conflicting Classifications	CA211369927	rs_1011619050	5 SubmittersRCV000730608 RCV001080720 RCV002440571 RCV004820099
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	CA5593833	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	CA5593674	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	CA5593641	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 Cardiovascular phenotype Wolman disease	Criteria Provided Conflicting Classifications	CA5593522	rs_779601441	3 SubmittersRCV000731569 RCV002388367 RCV001855763
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	CA470975161	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 Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593712	rs_369755163	3 SubmittersRCV000732148 RCV001081192 RCV002334412
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 LIPA-related disorder	Criteria Provided Conflicting Classifications	CA5593759	rs_371133960	7 SubmittersRCV000735162 RCV001084387 RCV001825487 RCV002458353 RCV004735791
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	CA470975424	rs_1564748504	4 SubmittersRCV000735186 RCV001493164 RCV002397520 RCV004535886
NM_000235.4(LIPA):c.111+1G>A	SNV Germline	Chr10:89247537	Pathogenic/Likely pathogenic	Wolman disease Cholesteryl ester storage disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA5593825	rs_762960877	3 SubmittersRCV002234746 RCV004789201 RCV005633710
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)	SNV Germline	Chr10:89214870	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593498	rs_529668674	3 SubmittersRCV000857249 RCV001858534 RCV005367598
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)	SNV Germline	Chr10:89214908	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5593503	rs_367664486	4 SubmittersRCV000857250 RCV002536215 RCV003480881 RCV006453422
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	CA5593508	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 Cholesteryl ester storage disease Wolman disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377516297	rs_1446626293	5 SubmittersRCV000857253 RCV001382524 RCV005049716 RCV005633764
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)	SNV Germline	Chr10:89215973	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA377516536	rs_1589548972	3 SubmittersRCV000857257 RCV003323742 RCV004994071
NM_000235.4(LIPA):c.922T>G (p.Phe308Val)	SNV Germline	Chr10:89215982	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications	CA5593564	rs_751625944	2 SubmittersRCV000857258 RCV005092544
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	CA5593565	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 Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA5593584	rs_756310979	3 SubmittersRCV000857260 RCV003495186 RCV006265333
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	CA5593715	rs_748267444	2 SubmittersRCV000857266 RCV001379703
NM_000235.4(LIPA):c.386A>G (p.His129Arg)	SNV Germline	Chr10:89228242	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Multiple Submitters No Conflicts	CA377517818	rs_1423914418	2 SubmittersRCV000857269 RCV001858535
NM_000235.4(LIPA):c.386A>C (p.His129Pro)	SNV Germline	Chr10:89228242	Pathogenic/Likely pathogenic	Lysosomal acid lipase deficiency Cholesteryl ester storage disease Wolman disease	Criteria Provided Multiple Submitters No Conflicts	CA377517819	rs_1423914418	2 SubmittersRCV000857270 RCV005047130
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	CA5593757	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	CA211369827	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	CA377518108	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 Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA377518111	rs_797045094	4 SubmittersRCV000857278 RCV001858539 RCV004818066
NM_000235.4(LIPA):c.170A>G (p.Asp57Gly)	SNV Germline	Chr10:89245735	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications	CA5593794	rs_768411839	3 SubmittersRCV000857279 RCV004800614
NM_000235.4(LIPA):c.318C>T (p.Phe106=)	SNV Germline	Chr10:89228310	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease LIPA-related disorder	Criteria Provided Conflicting Classifications	CA470739053	rs_1438679981	4 SubmittersRCV001102772 RCV001397169 RCV004735903
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	CA470737918	rs_1172318248	4 SubmittersRCV001075889 RCV001449673 RCV001862637
NM_000235.4(LIPA):c.1167T>C (p.Asn389=)	SNV Germline	Chr10:89214861	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications	CA470975274	rs_1842600689	2 SubmittersRCV001104597 RCV006465373
NM_000235.4(LIPA):c.406C>T (p.Gln136Ter)	SNV Germline	Chr10:89228222	Pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377517775	rs_1842794747	1 SubmittersRCV001217822
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)	SNV Germline	Chr10:89226912	Pathogenic/Likely pathogenic	Wolman disease Lysosomal acid lipase deficiency Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA377517487	rs_1842777072	3 SubmittersRCV001203433 RCV001833789 RCV006453574
NM_000235.4(LIPA):c.676-2A>T	SNV Germline	Chr10:89223832	Pathogenic	Wolman disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5593640	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	CA211367794	rs_762143630	2 SubmittersRCV001228209 RCV003490140
NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter)	SNV Germline	Chr10:89214961	Pathogenic/Likely pathogenic	Wolman disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA377516216	rs_2133411704	3 SubmittersRCV001382237 RCV005614535
NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter)	SNV Germline	Chr10:89215953	Pathogenic	Wolman disease	Criteria Provided Single Submitter	CA5593559	rs_760413481	1 SubmittersRCV001903419
NM_000235.4(LIPA):c.675+2T>G	SNV Germline	Chr10:89225090	Likely pathogenic	Wolman disease Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA377517140	rs_1564753490	2 SubmittersRCV002027384 RCV005042692
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	CA377516542	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	CA377516311	rs_776472526	1 SubmittersRCV002041867
NM_000235.4(LIPA):c.652C>T (p.Arg218Ter)	SNV Germline	Chr10:89225115	Pathogenic	Wolman disease Wolman disease Cholesteryl ester storage disease Lysosomal acid lipase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA211367656	rs_771330022	4 SubmittersRCV001951298 RCV005042605 RCV005635383
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro)	SNV Germline	Chr10:89228362	Conflicting classifications of pathogenicity	Lysosomal acid lipase deficiency Wolman disease	Criteria Provided Conflicting Classifications	CA377518083	rs_2133436727	2 SubmittersRCV002249094 RCV005095816
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	CA377518386	rs_754033834	2 SubmittersRCV002309838 RCV003598071
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)	SNV Germline	Chr10:89222534	Likely pathogenic	Lysosomal acid lipase deficiency Cholesteryl ester storage disease Wolman disease	Criteria Provided Multiple Submitters No Conflicts	CA377516694	rs_754124986	2 SubmittersRCV002308313 RCV005050558
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	CA5593676	rs_139585872	2 SubmittersRCV002360267 RCV003098145
NM_000235.4(LIPA):c.1145A>T (p.Asp382Val)	SNV Germline	Chr10:89214883	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516040	rs_1842601409	1 SubmittersRCV003052820
NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)	SNV Germline	Chr10:89215044	Pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516400	rs_2495555897	1 SubmittersRCV003064968
NM_000235.4(LIPA):c.203A>G (p.His68Arg)	SNV Germline	Chr10:89245702	Conflicting classifications of pathogenicity	Wolman disease LIPA-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5593791	rs_757920082	3 SubmittersRCV003074099 RCV004736252 RCV005351083
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)	SNV Germline	Chr10:89223812	Pathogenic/Likely pathogenic	Wolman disease	Criteria Provided Multiple Submitters No Conflicts	CA377517093	rs_1842732796	2 SubmittersRCV002643829
NM_000235.4(LIPA):c.112-1G>C	SNV Germline	Chr10:89245794	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377518432	rs_2495641617	1 SubmittersRCV002825000
NM_000235.4(LIPA):c.884A>C (p.His295Pro)	SNV Germline	Chr10:89222521	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516661	rs_2495575225	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	CA5593834	rs_780557919	2 SubmittersRCV002934051 RCV004068086
NM_000235.4(LIPA):c.1122T>G (p.His374Gln)	SNV Germline	Chr10:89214906	Likely pathogenic	Wolman disease	No Assertion Criteria Provided	CA377516093	rs_2495554859	1 SubmittersRCV003234749
NM_000235.4(LIPA):c.428+2T>C	SNV Germline	Chr10:89228198	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377517713	rs_2495594978	1 SubmittersRCV003496254
NM_000235.4(LIPA):c.822+1G>T	SNV Germline	Chr10:89223683	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516805	rs_1204744283	1 SubmittersRCV003496139
NM_000235.4(LIPA):c.538+5G>A	SNV Germline	Chr10:89226890	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA1926739357	rs_1842776518	1 SubmittersRCV003494667
NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)	SNV Germline	Chr10:89215940	Pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516457	rs_2495558424	1 SubmittersRCV003598957
NM_000235.4(LIPA):c.823-1G>A	SNV Germline	Chr10:89222583	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516798	rs_2495575741	1 SubmittersRCV003599612
NM_000235.4(LIPA):c.823-2A>G	SNV Germline	Chr10:89222584	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter	CA377516800	rs_2495575745	1 SubmittersRCV003597774
NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)	SNV Germline	Chr10:89245773	Pathogenic/Likely pathogenic	Wolman disease Wolman disease Cholesteryl ester storage disease	Criteria Provided Multiple Submitters No Conflicts	CA5593803	rs_181646633	2 SubmittersRCV003597921 RCV005047805
NM_000235.4(LIPA):c.894+1G>T	SNV Germline	Chr10:89222510	Likely pathogenic	Cholesteryl ester storage disease Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV005041944
NM_000235.4(LIPA):c.706C>T (p.Gln236Ter)	SNV Germline	Chr10:89223800	Likely pathogenic	Cholesteryl ester storage disease Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV005041945
NM_000235.4(LIPA):c.382A>T (p.Lys128Ter)	SNV Germline	Chr10:89228246	Pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV005207294
NM_000235.4(LIPA):c.860G>A (p.Gly287Glu)	SNV Germline	Chr10:89222545	Conflicting classifications of pathogenicity	not specified Wolman disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV006248784 RCV006475323
NM_000235.4(LIPA):c.294C>A (p.Asn98Lys)	SNV Germline	Chr10:89228334	Pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV006476179
NM_000235.4(LIPA):c.340G>T (p.Asp114Tyr)	SNV Germline	Chr10:89228288	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV006581211
NM_000235.4(LIPA):c.1154G>A (p.Trp385Ter)	SNV Germline	Chr10:89214874	Likely pathogenic	Wolman disease	Criteria Provided Single Submitter			1 SubmittersRCV006631957

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

SNV
Germline

Chr10:89225168

Pathogenic

Wolman disease
Lysosomal acid lipase deficiency
Cardiovascular phenotype
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA113832

rs_121965086

7 SubmittersRCV000000095 RCV000000096 RCV006342068 RCV005430456

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

SNV
Germline

Chr10:89223710

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA213127

rs_267607218

8 SubmittersRCV000000097 RCV001376562 RCV001562238 RCV001804146 RCV005041960 RCV005867716

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

SNV
Germline

Chr10:89222510

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516634

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA347038

rs_587778878

11 SubmittersRCV000191997 RCV001269917 RCV001376576 RCV003987346 RCV005003452

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
Cholesteryl ester storage disease
Wolman disease
Acute myeloid leukemia
Hepatocellular carcinoma
Melanoma
Malignant tumor of urinary bladder
Lung cancer
Familial cancer of breast
Colorectal cancer
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346907

rs_116928232

36 SubmittersRCV000185528 RCV000478829 RCV000778291 RCV001376623 RCV001823874 RCV002372140 RCV005003537 RCV005892122 RCV005892124 RCV005892127 RCV005892123 RCV005892128 RCV005892121 RCV005892125 RCV005892126

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
Cholesteryl ester storage disease

Criteria Provided
Conflicting Classifications

CA5593589

rs_534838107

6 SubmittersRCV000296316 RCV000673100 RCV001391322 RCV002446516 RCV005430519

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
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593587

rs_756950169

3 SubmittersRCV000311089 RCV002059245 RCV002374479

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

SNV
Germline

Chr10:89222520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10606471

rs_886044197

4 SubmittersRCV000406448 RCV001430761 RCV002446532 RCV004820014

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
not specified
Lysosomal acid lipase deficiency
Condition: not provided
Cardiovascular phenotype
LIPA-related disorder
Colon adenocarcinoma
Cholangiocarcinoma
Melanoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA5593621

rs_147493628

11 SubmittersRCV000287212 RCV000478562 RCV000887810 RCV001705448 RCV002392837 RCV004544508 RCV005891912 RCV005891915 RCV005891914 RCV005891913

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

Criteria Provided
Conflicting Classifications

CA5593582

rs_145066614

10 SubmittersRCV000322362 RCV000594326 RCV000673075 RCV002374515 RCV004544507 RCV003993923 RCV005430524

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.380G>A (p.Arg127Gln)

SNV
Germline

Chr10:89228248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5593751

rs_544080483

5 SubmittersRCV000265603 RCV000594785 RCV001093931 RCV004734963

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

9 SubmittersRCV000313645 RCV000734099 RCV001082890 RCV002356414

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

SNV
Germline

Chr10:89222511

Pathogenic/Likely pathogenic

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA377516637

rs_116928232

3 SubmittersRCV001865556 RCV000494734

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
Cardiovascular phenotype
Cholesteryl ester storage disease

Criteria Provided
Conflicting Classifications

CA5593637

rs_2228159

9 SubmittersRCV000596849 RCV000665538 RCV001450065 RCV003488716 RCV004543344 RCV004992373 RCV005430373

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

SNV
Germline

Chr10:89223792

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5593633

rs_139282720

5 SubmittersRCV000591044 RCV001456835 RCV003278933 RCV004820062 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.428+1G>A

SNV
Germline

Chr10:89228199

Pathogenic

Cholesteryl ester storage disease
Wolman disease

Criteria Provided
Single Submitter

CA377517715

rs_1554866004

2 SubmittersRCV005430793 RCV006463856

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

SNV
Germline

Chr10:89228209

Pathogenic

Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Single Submitter

CA377517743

rs_1457072724

3 SubmittersRCV000670570 RCV001376635 RCV005430671

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

SNV
Germline

Chr10:89228345

Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377518046

rs_1554866097

3 SubmittersRCV000669223 RCV002271556 RCV005430619

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

SNV
Germline

Chr10:89228372

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Conflicting Classifications

CA5593770

rs_749180806

3 SubmittersRCV000671520 RCV001868255 RCV005430704

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

SNV
Germline

Chr10:89215004

Pathogenic

Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Single Submitter

CA5593529

rs_776472526

3 SubmittersRCV000671138 RCV001376593 RCV005430691

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

SNV
Germline

Chr10:89223683

Likely pathogenic

Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Single Submitter

CA377516807

rs_1204744283

2 SubmittersRCV003495169 RCV005430411

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

SNV
Germline

Chr10:89228319

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA5593764

rs_766364179

4 SubmittersRCV000670582 RCV001855544 RCV005430672 RCV005046889

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

SNV
Germline

Chr10:89245712

Pathogenic

Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA5593792

rs_779712562

5 SubmittersRCV000674535 RCV000760967 RCV005430811

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

SNV
Germline

Chr10:89222513

Pathogenic

Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Single Submitter

CA377516641

rs_1554865206

2 SubmittersRCV003495171 RCV005430737

NM_000235.4(LIPA):c.883C>T (p.His295Tyr)

SNV
Germline

Chr10:89222522

Likely pathogenic

Wolman disease
Cholesteryl ester storage disease
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377516664

rs_1554865214

3 SubmittersRCV004689845 RCV005430724 RCV005046896

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

SNV
Germline

Chr10:89214958

Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA5593513

rs_772684869

4 SubmittersRCV000667739 RCV001379331 RCV005430573

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
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Clear cell carcinoma of kidney
Sarcoma

Criteria Provided
Conflicting Classifications

CA5593658

rs_145163592

7 SubmittersRCV000730763 RCV001080631 RCV001450075 RCV002360730 RCV004535714 RCV005901642 RCV005901643 RCV005901644 RCV005901645

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

CA5593670

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
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593686

rs_2297472

5 SubmittersRCV000729734 RCV001250116 RCV001485702 RCV004735775

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

CA470737443

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

CA5593512

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
Lysosomal acid lipase deficiency

Criteria Provided
Conflicting Classifications

CA211369927

rs_1011619050

5 SubmittersRCV000730608 RCV001080720 RCV002440571 RCV004820099

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

CA5593833

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

CA5593674

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

CA5593641

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
Cardiovascular phenotype
Wolman disease

Criteria Provided
Conflicting Classifications

CA5593522

rs_779601441

3 SubmittersRCV000731569 RCV002388367 RCV001855763

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

CA470975161

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
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593712

rs_369755163

3 SubmittersRCV000732148 RCV001081192 RCV002334412

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
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA5593759

rs_371133960

7 SubmittersRCV000735162 RCV001084387 RCV001825487 RCV002458353 RCV004735791

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

CA470975424

rs_1564748504

4 SubmittersRCV000735186 RCV001493164 RCV002397520 RCV004535886

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

SNV
Germline

Chr10:89247537

Pathogenic/Likely pathogenic

Wolman disease
Cholesteryl ester storage disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA5593825

rs_762960877

3 SubmittersRCV002234746 RCV004789201 RCV005633710

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

SNV
Germline

Chr10:89214870

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593498

rs_529668674

3 SubmittersRCV000857249 RCV001858534 RCV005367598

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

SNV
Germline

Chr10:89214908

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5593503

rs_367664486

4 SubmittersRCV000857250 RCV002536215 RCV003480881 RCV006453422

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

CA5593508

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
Cholesteryl ester storage disease
Wolman disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377516297

rs_1446626293

5 SubmittersRCV000857253 RCV001382524 RCV005049716 RCV005633764

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

SNV
Germline

Chr10:89215973

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA377516536

rs_1589548972

3 SubmittersRCV000857257 RCV003323742 RCV004994071

NM_000235.4(LIPA):c.922T>G (p.Phe308Val)

SNV
Germline

Chr10:89215982

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

CA5593564

rs_751625944

2 SubmittersRCV000857258 RCV005092544

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

CA5593565

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
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA5593584

rs_756310979

3 SubmittersRCV000857260 RCV003495186 RCV006265333

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

CA5593715

rs_748267444

2 SubmittersRCV000857266 RCV001379703

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

SNV
Germline

Chr10:89228242

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377517818

rs_1423914418

2 SubmittersRCV000857269 RCV001858535

NM_000235.4(LIPA):c.386A>C (p.His129Pro)

SNV
Germline

Chr10:89228242

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Cholesteryl ester storage disease
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377517819

rs_1423914418

2 SubmittersRCV000857270 RCV005047130

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

CA5593757

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

CA211369827

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

CA377518108

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
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377518111

rs_797045094

4 SubmittersRCV000857278 RCV001858539 RCV004818066

NM_000235.4(LIPA):c.170A>G (p.Asp57Gly)

SNV
Germline

Chr10:89245735

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

CA5593794

rs_768411839

3 SubmittersRCV000857279 RCV004800614

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

SNV
Germline

Chr10:89228310

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease
LIPA-related disorder

Criteria Provided
Conflicting Classifications

CA470739053

rs_1438679981

4 SubmittersRCV001102772 RCV001397169 RCV004735903

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

CA470737918

rs_1172318248

4 SubmittersRCV001075889 RCV001449673 RCV001862637

NM_000235.4(LIPA):c.1167T>C (p.Asn389=)

SNV
Germline

Chr10:89214861

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

CA470975274

rs_1842600689

2 SubmittersRCV001104597 RCV006465373

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

SNV
Germline

Chr10:89228222

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377517775

rs_1842794747

1 SubmittersRCV001217822

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

SNV
Germline

Chr10:89226912

Pathogenic/Likely pathogenic

Wolman disease
Lysosomal acid lipase deficiency
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377517487

rs_1842777072

3 SubmittersRCV001203433 RCV001833789 RCV006453574

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

SNV
Germline

Chr10:89223832

Pathogenic

Wolman disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5593640

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

CA211367794

rs_762143630

2 SubmittersRCV001228209 RCV003490140

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

SNV
Germline

Chr10:89214961

Pathogenic/Likely pathogenic

Wolman disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA377516216

rs_2133411704

3 SubmittersRCV001382237 RCV005614535

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

SNV
Germline

Chr10:89215953

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA5593559

rs_760413481

1 SubmittersRCV001903419

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

SNV
Germline

Chr10:89225090

Likely pathogenic

Wolman disease
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377517140

rs_1564753490

2 SubmittersRCV002027384 RCV005042692

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

CA377516542

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

CA377516311

rs_776472526

1 SubmittersRCV002041867

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

SNV
Germline

Chr10:89225115

Pathogenic

Wolman disease
Wolman disease
Cholesteryl ester storage disease
Lysosomal acid lipase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA211367656

rs_771330022

4 SubmittersRCV001951298 RCV005042605 RCV005635383

NM_000235.4(LIPA):c.266T>C (p.Leu89Pro)

SNV
Germline

Chr10:89228362

Conflicting classifications of pathogenicity

Lysosomal acid lipase deficiency
Wolman disease

Criteria Provided
Conflicting Classifications

CA377518083

rs_2133436727

2 SubmittersRCV002249094 RCV005095816

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

CA377518386

rs_754033834

2 SubmittersRCV002309838 RCV003598071

NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)

SNV
Germline

Chr10:89222534

Likely pathogenic

Lysosomal acid lipase deficiency
Cholesteryl ester storage disease
Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377516694

rs_754124986

2 SubmittersRCV002308313 RCV005050558

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

CA5593676

rs_139585872

2 SubmittersRCV002360267 RCV003098145

NM_000235.4(LIPA):c.1145A>T (p.Asp382Val)

SNV
Germline

Chr10:89214883

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516040

rs_1842601409

1 SubmittersRCV003052820

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

SNV
Germline

Chr10:89215044

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516400

rs_2495555897

1 SubmittersRCV003064968

NM_000235.4(LIPA):c.203A>G (p.His68Arg)

SNV
Germline

Chr10:89245702

Conflicting classifications of pathogenicity

Wolman disease
LIPA-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5593791

rs_757920082

3 SubmittersRCV003074099 RCV004736252 RCV005351083

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

SNV
Germline

Chr10:89223812

Pathogenic/Likely pathogenic

Wolman disease

Criteria Provided
Multiple Submitters
No Conflicts

CA377517093

rs_1842732796

2 SubmittersRCV002643829

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

SNV
Germline

Chr10:89245794

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377518432

rs_2495641617

1 SubmittersRCV002825000

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

SNV
Germline

Chr10:89222521

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516661

rs_2495575225

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

CA5593834

rs_780557919

2 SubmittersRCV002934051 RCV004068086

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

SNV
Germline

Chr10:89214906

Likely pathogenic

Wolman disease

No Assertion Criteria Provided

CA377516093

rs_2495554859

1 SubmittersRCV003234749

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

SNV
Germline

Chr10:89228198

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377517713

rs_2495594978

1 SubmittersRCV003496254

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

SNV
Germline

Chr10:89223683

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516805

rs_1204744283

1 SubmittersRCV003496139

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

SNV
Germline

Chr10:89226890

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA1926739357

rs_1842776518

1 SubmittersRCV003494667

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

SNV
Germline

Chr10:89215940

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516457

rs_2495558424

1 SubmittersRCV003598957

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

SNV
Germline

Chr10:89222583

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516798

rs_2495575741

1 SubmittersRCV003599612

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

SNV
Germline

Chr10:89222584

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

CA377516800

rs_2495575745

1 SubmittersRCV003597774

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

SNV
Germline

Chr10:89245773

Pathogenic/Likely pathogenic

Wolman disease
Wolman disease
Cholesteryl ester storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA5593803

rs_181646633

2 SubmittersRCV003597921 RCV005047805

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

SNV
Germline

Chr10:89222510

Likely pathogenic

Cholesteryl ester storage disease
Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV005041944

NM_000235.4(LIPA):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr10:89223800

Likely pathogenic

Cholesteryl ester storage disease
Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV005041945

NM_000235.4(LIPA):c.382A>T (p.Lys128Ter)

SNV
Germline

Chr10:89228246

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV005207294

NM_000235.4(LIPA):c.860G>A (p.Gly287Glu)

SNV
Germline

Chr10:89222545

Conflicting classifications of pathogenicity

not specified
Wolman disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006248784 RCV006475323

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

SNV
Germline

Chr10:89228334

Pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV006476179

NM_000235.4(LIPA):c.340G>T (p.Asp114Tyr)

SNV
Germline

Chr10:89228288

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV006581211

NM_000235.4(LIPA):c.1154G>A (p.Trp385Ter)

SNV
Germline

Chr10:89214874

Likely pathogenic

Wolman disease

Criteria Provided
Single Submitter

1 SubmittersRCV006631957