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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Wolman Disease (D015223)
..Starting node ..Lysosomal acid lipase deficiency (C531854)
Child Nodes:
Sister Nodes:
..Lysosomal acid lipase deficiency (C531854)
..Wolman Disease with Hypolipoproteinemia and Acanthocytosis (C564736)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7280

Name:

Lysosomal acid lipase deficiency

Definition:

Alternative IDs:

OMIM:278000

ParentIDs:

MESH:D015223

TreeNumbers:

C16.320.565.398.641.201.500/C531854 |C16.320.565.595.201.500/C531854 |C16.614.947/C531854 |C18.452.584.687.201.500/C531854 |C18.452.648.398.641.201.500/C531854 |C18.452.648.595.201.500/C531854

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Infant-newborn disease|Metabolic disease

Reference:

MedGen: C531854
MeSH: C531854
OMIM: 278000;
MSeqDR :
Genes: LIPA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010512	Adrenal calcification
3	HP:0004333	Bone-marrow foam cells
4	HP:0001394	Cirrhosis NAMDC: Cirrhosis
5	HP:0001522	Death in infancy
6	HP:0002014	Diarrhea
7	HP:0002040	Esophageal varix
8	HP:0001508	Failure to thrive
9	HP:0001395	Hepatic fibrosis
10	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
11	HP:0002240	Hepatomegaly
12	HP:0001433	Hepatosplenomegaly
13	HP:0003124	Hypercholesterolemia
14	HP:0002155	Hypertriglyceridemia
15	HP:0001538	Protuberant abdomen
16	HP:0002092	Pulmonary arterial hypertension
17	HP:0001744	Splenomegaly
18	HP:0002570	Steatorrhea
19	HP:0001922	Vacuolated lymphocytes
20	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000235.4(LIPA):c.*1205T>G	3988	LIPA	Uncertain significance	886047464	RCV000281279\|RCV001094035;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973380	90973380	NC_000010.10:g.90973380A>C	ClinGen:CA10636459	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*1187C>A	3988	LIPA	Benign/Likely benign	78931290	RCV000280232\|RCV001094036;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973398	90973398	NC_000010.10:g.90973398G>T	ClinGen:CA10636852	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*1147C>G	3988	LIPA	Uncertain significance	1245823235	RCV001107818;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973438	90973438	10:g.90973438G>C	-
NM_000235.4(LIPA):c.*1093C>T	3988	LIPA	Benign/Likely benign	13500	RCV000351626\|RCV001094037\|RCV001696207;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:C3661900	10	90973492	90973492	NC_000010.10:g.90973492G>A	ClinGen:CA10632825	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*1091T>C	3988	LIPA	Uncertain significance	886047465	RCV000311498\|RCV001093922;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973494	90973494	NC_000010.10:g.90973494A>G	ClinGen:CA10636463	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*991T>G	3988	LIPA	Uncertain significance	886047466	RCV000270780\|RCV001093923;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973594	90973594	NC_000010.10:g.90973594A>C	ClinGen:CA10632828	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*949C>T	3988	LIPA	Uncertain significance	755914073	RCV000304783\|RCV001093924;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973636	90973636	NC_000010.10:g.90973636G>A	ClinGen:CA10636860	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*939G>A	3988	LIPA	Uncertain significance	774820637	RCV000265429\|RCV001093925;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973646	90973646	NC_000010.10:g.90973646C>T	ClinGen:CA10632831	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*921C>T	3988	LIPA	Uncertain significance	1179037686	RCV001102569;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973664	90973664	10:g.90973664G>A	-
NM_000235.4(LIPA):c.*909T>A	3988	LIPA	Benign	1131706	RCV000259259\|RCV001093926\|RCV001690000;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:C3661900	10	90973676	90973676	NC_000010.10:g.90973676A>T	ClinGen:CA10629441	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*876C>G	3988	LIPA	Conflicting interpretations of pathogenicity	141445686	RCV000316780\|RCV001093966;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973709	90973709	NC_000010.10:g.90973709G>C	ClinGen:CA10632832	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*858A>C	3988	LIPA	Uncertain significance	886047467	RCV000295769\|RCV001093967;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973727	90973727	NC_000010.10:g.90973727T>G	ClinGen:CA10632835	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*842G>A	3988	LIPA	Uncertain significance	187138384	RCV001104495;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973743	90973743	10:g.90973743C>T	-
NM_000235.4(LIPA):c.*841C>G	3988	LIPA	Benign/Likely benign	116074523	RCV000347365\|RCV001093968;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973744	90973744	NC_000010.10:g.90973744G>C	ClinGen:CA10636464	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*804C>T	3988	LIPA	Uncertain significance	886047468	RCV000307970\|RCV001093969;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973781	90973781	NC_000010.10:g.90973781G>A	ClinGen:CA10636864	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*618G>C	3988	LIPA	Uncertain significance	886047469	RCV000301065\|RCV001094020;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973967	90973967	NC_000010.10:g.90973967C>G	ClinGen:CA10629442	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*608C>T	3988	LIPA	Likely benign	9664201	RCV001107903;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90973977	90973977	10:g.90973977G>A	-
NM_000235.4(LIPA):c.*573T>A	3988	LIPA	Uncertain significance	769179666	RCV000261948\|RCV001094041;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974012	90974012	NC_000010.10:g.90974012A>T	ClinGen:CA10629445	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*557A>C	3988	LIPA	Uncertain significance	942666524	RCV001107904;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974028	90974028	10:g.90974028T>G	-
NM_000235.4(LIPA):c.*494A>G	3988	LIPA	Uncertain significance	1003454769	RCV001102675;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974091	90974091	10:g.90974091T>C	-
NM_000235.4(LIPA):c.*458C>T	3988	LIPA	Uncertain significance	1006504114	RCV001102676;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974127	90974127	10:g.90974127G>A	-
NM_000235.4(LIPA):c.*385C>A	3988	LIPA	Uncertain significance	763288984	RCV000339079\|RCV001093928;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974200	90974200	10:g.90974200G>T	ClinGen:CA10636479	CN438428 Wolman disease;
NM_000235.4(LIPA):c.*383A>G	3988	LIPA	Uncertain significance	1842593097	RCV001104595;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974202	90974202	10:g.90974202T>C	-
NM_000235.4(LIPA):c.*184T>C	3988	LIPA	Uncertain significance	1338962406	RCV001104596;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974401	90974401	10:g.90974401A>G	-
NM_000235.4(LIPA):c.*151C>T	3988	LIPA	Uncertain significance	767578516	RCV000300298\|RCV001093971;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974434	90974434	10:g.90974434G>A	ClinGen:CA10636865	CN438428 Wolman disease;
NC_000010.11:g.(?_89214808)_(89216029_?)del	3988	LIPA	Likely pathogenic	-1	RCV001033481\|RCV003117709;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974565	90975786	-1	-
NM_000235.4(LIPA):c.1188G>A (p.Arg396=)	3988	LIPA	Likely benign	750001661	RCV000674362\|RCV001397159\|RCV003163070;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90974597	90974597	10:g.90974597C>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile)	3988	LIPA	Uncertain significance	1842600141	RCV001367082\|RCV001826057\|RCV002341787;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90974600	90974600	90974600	-
NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs)	3988	LIPA	Pathogenic/Likely pathogenic	2133411275	RCV001783600\|RCV003331202;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974601	90974605	90974600	-
NM_000235.4(LIPA):c.1171A>G (p.Ile391Val)	3988	LIPA	Uncertain significance	1449941002	RCV001277798\|RCV003166602;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MeSH:D030342,MedGen:C0950123	10	90974614	90974614	10:g.90974614T>C	-
NM_000235.4(LIPA):c.1167T>C (p.Asn389=)	3988	LIPA	Uncertain significance	1842600689	RCV001104597;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974618	90974618	10:g.90974618A>G	-
NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys)	3988	LIPA	Likely pathogenic	766062562	RCV000857248;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974622	90974622	10:g.90974622T>C	-
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)	3988	LIPA	Conflicting interpretations of pathogenicity	529668674	RCV000857249\|RCV001858534;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974627	90974627	10:g.90974627C>G	-
NM_000235.4(LIPA):c.1142T>C (p.Leu381Pro)	3988	LIPA	Uncertain significance	1334456405	RCV001107345;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974643	90974643	10:g.90974643A>G	-
NM_000235.4(LIPA):c.1135T>A (p.Trp379Arg)	3988	LIPA	Uncertain significance	-1	RCV003337911;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974650	90974650		-
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)	3988	LIPA	Uncertain significance	778013279	RCV002015208\|RCV002443018\|RCV003329429;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974652	90974652	90974652	-
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)	3988	LIPA	Conflicting interpretations of pathogenicity	200420117	RCV000377392\|RCV001400678\|RCV001828188\|RCV002319474;	N	MedGen:C3661900\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90974657	90974657	10:g.90974657G>A	ClinGen:CA5593501	CN169374 not specified;
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)	3988	LIPA	Conflicting interpretations of pathogenicity	367664486	RCV000857250\|RCV002536215;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974665	90974665	10:g.90974665G>A	-
NM_000235.4(LIPA):c.1119G>A (p.Glu373=)	3988	LIPA	Likely benign	745997462	RCV001277799\|RCV001476431\|RCV002436989;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90974666	90974666	10:g.90974666C>T	-
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)	3988	LIPA	Conflicting interpretations of pathogenicity	116827211	RCV000173660\|RCV000369048\|RCV000675913\|RCV001083866\|RCV002433762;	N	MedGen:CN169374\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90974672	90974672	10:g.90974672T>C	ClinGen:CA200662	CN517202 not provided;
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr)	3988	LIPA	Conflicting interpretations of pathogenicity	747214463	RCV000857251\|RCV002536216;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974679	90974679	10:g.90974679A>G	-
NM_000235.4(LIPA):c.1079T>A (p.Ile360Asn)	3988	LIPA	Likely pathogenic	776294856	RCV000857252;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974706	90974706	10:g.90974706A>T	-
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)	3988	LIPA	Conflicting interpretations of pathogenicity	772684869	RCV000667739\|RCV001379331;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974715	90974715	10:g.90974715A>G	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.1068A>G (p.Leu356=)	3988	LIPA	Likely benign	137932212	RCV001277800\|RCV001476883\|RCV002411923;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90974717	90974717	10:g.90974717T>C	-
NM_000235.4(LIPA):c.1066T>C (p.Leu356=)	3988	LIPA	Likely benign	1281069681	RCV001272684\|RCV001442244;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974719	90974719	10:g.90974719A>G	-
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del)	3988	LIPA	Likely pathogenic	767207643	RCV001206098\|RCV001836138;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974728	90974730	10:g.90974728_90974730del	-
NM_000235.4(LIPA):c.1050C>T (p.Val350=)	3988	LIPA	Likely benign	1249046123	RCV000909322\|RCV001832046\|RCV002400005;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90974735	90974735	10:g.90974735G>A	-
NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly)	3988	LIPA	Uncertain significance	149459699	RCV000340608\|RCV001325698\|RCV001828227;	N	MedGen:C3661900\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974739	90974739	10:g.90974739T>C	ClinGen:CA5593519	CN169374 not specified;
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)	3988	LIPA	Pathogenic/Likely pathogenic	1446626293	RCV000857253\|RCV001382524;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974752	90974752	10:g.90974752C>T	-
NM_000235.4(LIPA):c.1032C>T (p.His344=)	3988	LIPA	Likely benign	779601441	RCV000898983\|RCV001450053\|RCV002390885;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90974753	90974753	10:g.90974753G>A	-
NM_000235.4(LIPA):c.1026G>A (p.Gly342=)	3988	LIPA	Conflicting interpretations of pathogenicity	550415126	RCV000315518\|RCV000981259;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974759	90974759	10:g.90974759C>T	ClinGen:CA5593527	CN438428 Wolman disease;
NM_000235.4(LIPA):c.1025G>T (p.Gly342Val)	3988	LIPA	Likely pathogenic	768826988	RCV000857254;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974760	90974760	10:g.90974760C>A	-
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)	3988	LIPA	Pathogenic/Likely pathogenic	776472526	RCV000671138\|RCV001376593;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90974761	90974761	10:g.90974761C>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.1024G>T (p.Gly342Trp)	3988	LIPA	Likely pathogenic	776472526	RCV000857255;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974761	90974761	10:g.90974761C>A	-
NM_000235.4(LIPA):c.1023C>T (p.Ser341=)	3988	LIPA	Likely benign	747984396	RCV000924984\|RCV002235619\|RCV002445033;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90974762	90974762	10:g.90974762G>A	-
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)	3988	LIPA	Conflicting interpretations of pathogenicity	143793106	RCV000270478\|RCV000596255\|RCV000904697;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN169374\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974776	90974776	10:g.90974776T>C	ClinGen:CA5593532	CN169374 not specified;
NM_000235.4(LIPA):c.974C>T (p.Pro325Leu)	3988	LIPA	Conflicting interpretations of pathogenicity	1326903845	RCV000857256\|RCV003411831;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|	10	90974811	90974811	10:g.90974811G>A	-
NM_000235.4(LIPA):c.967-13C>A	3988	LIPA	Uncertain significance	762226885	RCV000271999\|RCV001094027;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90974831	90974831	10:g.90974831G>T	ClinGen:CA5593539	CN438428 Wolman disease;
NM_000235.4(LIPA):c.966+46C>T	3988	LIPA	Benign	3802656	RCV000244108\|RCV001537940\|RCV001682965;	N	MedGen:CN169374\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:C3661900	10	90975649	90975649	NC_000010.10:g.90975649G>A	ClinGen:CA5593550	CN169374 not specified;
NM_000235.4(LIPA):c.966+3A>T	3988	LIPA	Uncertain significance	201242614	RCV000592075\|RCV000666174\|RCV003230551\|RCV002532444;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN169374\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90975692	90975692	10:g.90975692T>A	ClinGen:CA5593556	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter)	3988	LIPA	Likely pathogenic	1554864404	RCV000673630;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90975701	90975701	10:g.90975701G>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.947A>G (p.Asn316Ser)	3988	LIPA	Uncertain significance	-1	RCV003110185;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90975714	90975714	NC_000010.10:g.90975714T>C	-
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)	3988	LIPA	Likely pathogenic	1589548972	RCV000857257\|RCV003323742;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90975730	90975730	10:g.90975730C>T	-
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)	3988	LIPA	Pathogenic	2133413584	RCV001942247\|RCV003147713;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90975732	90975732	90975732	-
NM_000235.4(LIPA):c.925G>T (p.Asp309Tyr)	3988	LIPA	Uncertain significance	2133413594	RCV001823559;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90975736	90975736	90975736	-
NM_000235.4(LIPA):c.922T>G (p.Phe308Val)	3988	LIPA	Likely pathogenic	751625944	RCV000857258;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90975739	90975739	10:g.90975739A>C	-
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)	3988	LIPA	Likely pathogenic	754964952	RCV000857259\|RCV001869315;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90975741	90975741	10:g.90975741G>T	-
NM_000235.4(LIPA):c.894+7A>G	3988	LIPA	Benign/Likely benign	12255537	RCV000974676\|RCV001507215\|RCV001593157;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900	10	90982261	90982261	10:g.90982261T>C	-
NM_000235.4(LIPA):c.894+2T>C	3988	LIPA	Likely pathogenic	1554865199	RCV000673157;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982266	90982266	10:g.90982266A>G	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	3988	LIPA	Pathogenic/Likely pathogenic	116928232	RCV000185528\|RCV000478829\|RCV000778291\|RCV001376623\|RCV001823874\|RCV002372140\|RCV003407681;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:C3661900\|\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0019149,MedGen:C0008384, Orphanet:75234\|MedGen:CN230736\|	10	90982268	90982268	NC_000010.10:g.90982268C>T	ClinGen:CA346907,OMIM:613497.0002	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.894G>C (p.Gln298His)	3988	LIPA	Pathogenic/Likely pathogenic	116928232	RCV000494734\|RCV001865556;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90982268	90982268	NC_000010.10:g.90982268C>G	ClinGen:CA377516637	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter)	3988	LIPA	Likely pathogenic	1554865206	RCV000672609;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982270	90982270	10:g.90982270G>A	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.891C>T (p.Ser297=)	3988	LIPA	Conflicting interpretations of pathogenicity	145066614	RCV000322362\|RCV000594326\|RCV000673075\|RCV002374515;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90982271	90982271	10:g.90982271G>A	ClinGen:CA5593582	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.883C>T (p.His295Tyr)	3988	LIPA	Likely pathogenic	1554865214	RCV000672159;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982279	90982279	10:g.90982279G>A	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser)	3988	LIPA	Likely pathogenic	756310979	RCV000857260;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982281	90982281	10:g.90982281A>G	-
NM_000235.4(LIPA):c.877A>C (p.Met293Leu)	3988	LIPA	Uncertain significance	764343762	RCV001210782\|RCV002241084;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90982285	90982285	10:g.90982285T>G	-
NM_000235.4(LIPA):c.871C>G (p.Gln291Glu)	3988	LIPA	Likely pathogenic	754124986	RCV000857261;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982291	90982291	10:g.90982291G>C	-
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)	3988	LIPA	Likely pathogenic	-1	RCV002308313;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982291	90982291	90982291	-
NM_000235.4(LIPA):c.866C>G (p.Ser289Cys)	3988	LIPA	Likely pathogenic	1589553174	RCV000857262;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982296	90982296	10:g.90982296G>C	-
NM_000235.4(LIPA):c.863C>T (p.Thr288Ile)	3988	LIPA	Likely pathogenic	1306336545	RCV000857263;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982299	90982299	10:g.90982299G>A	-
NM_000235.4(LIPA):c.851C>T (p.Ser284Phe)	3988	LIPA	Uncertain significance	1261613499	RCV001198996;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982311	90982311	10:g.90982311G>A	-
NM_000235.4(LIPA):c.846A>G (p.Thr282=)	3988	LIPA	Conflicting interpretations of pathogenicity	534838107	RCV000296316\|RCV000673100\|RCV001391322\|RCV002446516;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90982316	90982316	10:g.90982316T>C	ClinGen:CA5593589	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.826A>T (p.Arg276Ter)	3988	LIPA	Likely pathogenic	1842714308	RCV001263954;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90982336	90982336	10:g.90982336T>A	-
NM_000235.4(LIPA):c.822+1G>A	3988	LIPA	Likely pathogenic	1204744283	RCV000665567;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983440	90983440	10:g.90983440C>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.815T>A (p.Leu272Ter)	3988	LIPA	Likely pathogenic	1842729511	RCV001263955;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983448	90983448	10:g.90983448A>T	-
NM_000235.4(LIPA):c.805G>T (p.Glu269Ter)	3988	LIPA	Likely pathogenic	1842729716	RCV001263956;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983458	90983458	10:g.90983458C>A	-
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)	3988	LIPA	Pathogenic	267607218	RCV000000097\|RCV001376562\|RCV001562238\|RCV001804146;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN517202\|MONDO:MONDO:0019149,MedGen:C0008384, Orphanet:75234	10	90983467	90983467	10:g.90983467C>A	ClinGen:CA213127,OMIM:613497.0003	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	3988	LIPA	Conflicting interpretations of pathogenicity	147493628	RCV000287212\|RCV000478562\|RCV000887810\|RCV001705448\|RCV002392837;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN169374\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:C3661900\|MedGen:CN230736	10	90983509	90983509	10:g.90983509T>A	ClinGen:CA5593621	CN169374 not specified;
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile)	3988	LIPA	Uncertain significance	373857537	RCV001236267\|RCV002563853;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90983517	90983517	10:g.90983517G>A	-
NM_000235.4(LIPA):c.713C>T (p.Ala238Val)	3988	LIPA	Uncertain significance	886047470	RCV000278306\|RCV001094046;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983550	90983550	10:g.90983550G>A	ClinGen:CA10629449	CN438428 Wolman disease;
NM_000235.4(LIPA):c.685G>T (p.Gly229Ter)	3988	LIPA	Likely pathogenic	-1	RCV002308328;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983578	90983578	90983578	-
NM_000235.4(LIPA):c.684del (p.Phe228fs)	3988	LIPA	Pathogenic	770074196	RCV000668588\|RCV001376570;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90983579	90983579	10:g.90983579_90983579del	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)	3988	LIPA	Conflicting interpretations of pathogenicity	2228159	RCV000596849\|RCV000665538\|RCV001450065;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90983580	90983580	10:g.90983580A>G	ClinGen:CA5593637	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.676-2A>G	3988	LIPA	Likely pathogenic	747508159	RCV000669853;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983589	90983589	10:g.90983589T>C	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.676-2A>T	3988	LIPA	Pathogenic	747508159	RCV001208508\|RCV003142141;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983589	90983589	10:g.90983589T>A	-
NM_000235.4(LIPA):c.676-14T>A	3988	LIPA	Uncertain significance	886047471	RCV000338003\|RCV001094047;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983601	90983601	10:g.90983601A>T	ClinGen:CA10632848	CN438428 Wolman disease;
NM_000235.4(LIPA):c.676-25T>C	3988	LIPA	Uncertain significance	150415734	RCV001277801;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983612	90983612	10:g.90983612A>G	-
NM_000235.4(LIPA):c.676-42G>A	3988	LIPA	Benign	1556478	RCV000247577\|RCV000831271\|RCV001537941;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983629	90983629	NC_000010.10:g.90983629C>T	ClinGen:CA5593649	CN169374 not specified;
NM_000235.4(LIPA):c.676-72G>C	3988	LIPA	Likely benign	113450779	RCV001581059\|RCV001827530;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90983659	90983659	90983659	-
NM_000235.4(LIPA):c.675+62A>C	3988	LIPA	Benign	2297473	RCV000831270\|RCV001537942;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984787	90984787	10:g.90984787T>G	-
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe)	3988	LIPA	Uncertain significance	1161698310	RCV001107997\|RCV001856440;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90984857	90984857	10:g.90984857G>A	-
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)	3988	LIPA	Conflicting interpretations of pathogenicity	145163592	RCV000730763\|RCV001080631\|RCV001450075\|RCV002360730\|RCV003424280;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736\|	10	90984862	90984862	10:g.90984862T>C	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.647T>A (p.Leu216Ter)	3988	LIPA	Pathogenic	2133429402	RCV002250093;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984877	90984877	90984877	-
NM_000235.4(LIPA):c.618C>A (p.Val206=)	3988	LIPA	Conflicting interpretations of pathogenicity	763651849	RCV000734910\|RCV001277802\|RCV002352254;	N	MedGen:CN517202\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90984906	90984906	NC_000010.10:g.90984906G>T	-
NM_000235.4(LIPA):c.605_618del (p.Pro202fs)	3988	LIPA	Likely pathogenic	-1	RCV002306960;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984906	90984919	90984905	-
NM_000235.4(LIPA):c.616G>A (p.Val206Ile)	3988	LIPA	Uncertain significance	756878837	RCV000293339\|RCV001094048;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984908	90984908	10:g.90984908C>T	ClinGen:CA5593672	CN438428 Wolman disease;
NM_000235.4(LIPA):c.615C>T (p.Ser205=)	3988	LIPA	Conflicting interpretations of pathogenicity	143930279	RCV000313645\|RCV000734099\|RCV001082890\|RCV002356414;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90984909	90984909	10:g.90984909G>A	ClinGen:CA5593673	CN438428 Wolman disease;
NM_000235.4(LIPA):c.615C>G (p.Ser205=)	3988	LIPA	Conflicting interpretations of pathogenicity	143930279	RCV000731120\|RCV001087324\|RCV001450085\|RCV002352248;	N	MedGen:CN517202\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90984909	90984909	NC_000010.10:g.90984909G>C	-
NM_000235.4(LIPA):c.605C>T (p.Pro202Leu)	3988	LIPA	Likely pathogenic	1393039920	RCV000857264;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984919	90984919	10:g.90984919G>A	-
NM_000235.4(LIPA):c.600G>A (p.Leu200=)	3988	LIPA	Conflicting interpretations of pathogenicity	1172318248	RCV001075889\|RCV001862637\|RCV001449673;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0019149,MedGen:C0008384, Orphanet:75234	10	90984924	90984924	10:g.90984924C>T	OMIM:613497.0008
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)	3988	LIPA	Pathogenic/Likely pathogenic	121965086	RCV000000095\|RCV000000096;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984925	90984925	10:g.90984925A>G	UniProtKB:P38571#VAR_004250,OMIM:613497.0001,ClinGen:CA113832	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.594dup (p.Ala199fs)	3988	LIPA	Pathogenic/Likely pathogenic	780495201	RCV000000099\|RCV000000100\|RCV000524544\|RCV001549751;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019149,MedGen:C0008384, Orphanet:75234\|MedGen:CN517202	10	90984929	90984930	10:g.90984929_90984930insA	ClinGen:CA113834,OMIM:613497.0004	C0008384 Cholesteryl ester storage disease;
NM_000235.4(LIPA):c.579G>A (p.Arg193=)	3988	LIPA	Likely benign	777978533	RCV001430068\|RCV001826242;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984945	90984945	90984945	-
NM_000235.4(LIPA):c.539-5C>T	3988	LIPA	Benign	2297472	RCV000242787\|RCV000363630\|RCV000675915\|RCV001094049\|RCV002347948;	N	MedGen:CN169374\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90984990	90984990	NC_000010.10:g.90984990G>A	ClinGen:CA5593685	CN517202 not provided;
NM_000235.4(LIPA):c.539-5C>A	3988	LIPA	Conflicting interpretations of pathogenicity	2297472	RCV000729734\|RCV001250116\|RCV001485702;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90984990	90984990	NC_000010.10:g.90984990G>T	-
NM_000235.4(LIPA):c.539-6T>C	3988	LIPA	Conflicting interpretations of pathogenicity	201898154	RCV000310076\|RCV000733561\|RCV000944060;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN169374\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90984991	90984991	10:g.90984991A>G	ClinGen:CA5593687	CN438428 Wolman disease;
NM_000235.4(LIPA):c.538+6T>C	3988	LIPA	Uncertain significance	772236690	RCV000673994\|RCV001868274;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90986646	90986646	10:g.90986646A>G	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.538+4T>A	3988	LIPA	Uncertain significance	779872404	RCV001051986\|RCV001832477;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986648	90986648	10:g.90986648A>T	-
NM_000235.4(LIPA):c.526G>A (p.Gly176Ser)	3988	LIPA	Likely pathogenic	1589556901	RCV000857265;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986664	90986664	10:g.90986664C>T	-
NM_000235.4(LIPA):c.524A>C (p.Gln175Pro)	3988	LIPA	Likely pathogenic	-1	RCV003225684;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986666	90986666		-
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)	3988	LIPA	Uncertain significance	1842777072	RCV001203433\|RCV001833789;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986669	90986669	10:g.90986669G>A	-
NM_000235.4(LIPA):c.482del (p.Asn161fs)	3988	LIPA	Pathogenic/Likely pathogenic	762559980	RCV000029177\|RCV000667513;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986708	90986708	10:g.90986708_90986708del	OMIM:613497.0007	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.479_480del (p.Leu160fs)	3988	LIPA	Likely pathogenic	-1	RCV002309910;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986710	90986711	90986709	-
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro)	3988	LIPA	Pathogenic/Likely pathogenic	748267444	RCV000857266\|RCV001379703;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90986735	90986735	10:g.90986735A>G	-
NM_000235.4(LIPA):c.447del (p.Lys149fs)	3988	LIPA	Likely pathogenic	-1	RCV002308106;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986743	90986743	90986742	-
NM_000235.4(LIPA):c.435T>A (p.Asp145Glu)	3988	LIPA	Likely pathogenic	760901300	RCV000857267;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90986755	90986755	10:g.90986755A>T	-
NC_000010.11:g.(?_89228180)_(89228418_?)del	3988	LIPA	Pathogenic	-1	RCV001031544;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987937	90988175	-1	-
NC_000010.11:g.(?_89228190)_(89228408_?)del	3988	LIPA	Pathogenic	-1	RCV001033530\|RCV001390913;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90987947	90988165	-1	-
NM_000235.4(LIPA):c.428+8T>G	3988	LIPA	Likely benign	554238064	RCV001277803\|RCV001448496;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90987949	90987949	10:g.90987949A>C	-
NM_000235.4(LIPA):c.428+3A>G	3988	LIPA	Uncertain significance	369626938	RCV000730069\|RCV001102770;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987954	90987954	NC_000010.10:g.90987954T>C	-
NM_000235.4(LIPA):c.428+1G>A	3988	LIPA	Likely pathogenic	1554866004	RCV000674143;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987956	90987956	10:g.90987956C>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.425T>C (p.Phe142Ser)	3988	LIPA	Uncertain significance	-1	RCV003152901;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987960	90987960		-
NM_000235.4(LIPA):c.420_421del (p.Trp140fs)	3988	LIPA	Likely pathogenic	-1	RCV002308368;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987964	90987965	90987963	-
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)	3988	LIPA	Pathogenic	1457072724	RCV000670570\|RCV001376635;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90987966	90987966	10:g.90987966C>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.417C>A (p.Phe139Leu)	3988	LIPA	Likely pathogenic	1589558062	RCV000857268;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987968	90987968	10:g.90987968G>T	-
NM_000235.4(LIPA):c.412G>T (p.Glu138Ter)	3988	LIPA	Pathogenic	1226852302	RCV001783601;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987973	90987973	90987973	-
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)	3988	LIPA	Pathogenic	756016704	RCV000368412\|RCV000801965\|RCV001376636;	N	MedGen:CN517202\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90987987	90987987	NC_000010.10:g.90987987del	ClinGen:CA5593748	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.396C>G (p.Leu132=)	3988	LIPA	Conflicting interpretations of pathogenicity	201603238	RCV000598286\|RCV001083196\|RCV001507214\|RCV002377226;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:CN230736	10	90987989	90987989	10:g.90987989G>C	ClinGen:CA5593749	CN169374 not specified;
NM_000235.4(LIPA):c.391A>G (p.Thr131Ala)	3988	LIPA	Uncertain significance	1842795359	RCV001102771;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987994	90987994	10:g.90987994T>C	-
NM_000235.4(LIPA):c.386A>G (p.His129Arg)	3988	LIPA	Pathogenic/Likely pathogenic	1423914418	RCV000857269\|RCV001858535;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90987999	90987999	10:g.90987999T>C	-
NM_000235.4(LIPA):c.386A>C (p.His129Pro)	3988	LIPA	Likely pathogenic	1423914418	RCV000857270;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90987999	90987999	10:g.90987999T>G	-
NM_000235.4(LIPA):c.384del (p.Lys128fs)	3988	LIPA	Likely pathogenic	-1	RCV002308449;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988001	90988001	90988000	-
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln)	3988	LIPA	Uncertain significance	544080483	RCV000265603\|RCV000594785\|RCV001093931;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988005	90988005	10:g.90988005C>T	ClinGen:CA5593751	CN169374 not specified;
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)	3988	LIPA	Conflicting interpretations of pathogenicity	140686447	RCV000633314\|RCV002509479;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988006	90988006	NC_000010.10:g.90988006G>A	ClinGen:CA5593752	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.377C>T (p.Ser126Phe)	3988	LIPA	Likely pathogenic	1589558169	RCV000857271;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988008	90988008	10:g.90988008G>A	-
NM_000235.4(LIPA):c.367A>G (p.Asn123Asp)	3988	LIPA	Conflicting interpretations of pathogenicity	771904218	RCV000857272\|RCV001858536;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988018	90988018	10:g.90988018T>C	-
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)	3988	LIPA	Conflicting interpretations of pathogenicity	912441212	RCV000857273\|RCV001858537;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988024	90988024	10:g.90988024T>C	-
NM_000235.4(LIPA):c.356A>G (p.Asn119Ser)	3988	LIPA	Likely pathogenic	1589558218	RCV000857274;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988029	90988029	10:g.90988029T>C	-
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)	3988	LIPA	Pathogenic/Likely pathogenic	753796180	RCV000672461\|RCV000731991\|RCV001861811;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN517202\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988034	90988035	10:g.90988034_90988035insGG	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.342C>T (p.Asp114=)	3988	LIPA	Conflicting interpretations of pathogenicity	371133960	RCV000735162\|RCV001084387\|RCV001825487\|RCV002458353;	N	MedGen:C3661900\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	90988043	90988043	NC_000010.10:g.90988043G>A	-
NM_000235.4(LIPA):c.318C>T (p.Phe106=)	3988	LIPA	Conflicting interpretations of pathogenicity	1438679981	RCV001102772\|RCV001397169;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988067	90988067	10:g.90988067G>A	-
NM_000235.4(LIPA):c.316T>A (p.Phe106Ile)	3988	LIPA	Likely pathogenic	773533216	RCV000857275;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988069	90988069	10:g.90988069A>T	-
NM_000235.4(LIPA):c.313_314del (p.Gly105fs)	3988	LIPA	Likely pathogenic	-1	RCV002306844;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988071	90988072	90988070	-
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)	3988	LIPA	Conflicting interpretations of pathogenicity	766364179	RCV000670582\|RCV001855544;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988076	90988076	10:g.90988076G>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)	3988	LIPA	Conflicting interpretations of pathogenicity	767688436	RCV000598187\|RCV000857276\|RCV001867978;	N	MedGen:CN517202\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988091	90988091	10:g.90988091G>C	ClinGen:CA5593767	CN169374 not specified;
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)	3988	LIPA	Conflicting interpretations of pathogenicity	1554866097	RCV000669223\|RCV002271556;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988102	90988102	10:g.90988102A>T	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro)	3988	LIPA	Likely pathogenic	2133436727	RCV002249094;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988119	90988119	90988119	-
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	3988	LIPA	Pathogenic/Likely pathogenic	587778878	RCV000191997\|RCV001376576\|RCV001269917;	Y	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900	10	90988125	90988125	10:g.90988125C>A	ClinGen:CA347038	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)	3988	LIPA	Conflicting interpretations of pathogenicity	749180806	RCV000671520\|RCV001868255;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988129	90988129	10:g.90988129G>A	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)	3988	LIPA	Pathogenic/Likely pathogenic	1589558414	RCV000857277\|RCV001858538;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988131	90988131	10:g.90988131T>C	-
NM_000235.4(LIPA):c.253C>T (p.Gln85Ter)	3988	LIPA	Pathogenic	797045094	RCV000190602;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988132	90988132	NC_000010.10:g.90988132G>A	ClinGen:CA213318	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)	3988	LIPA	Pathogenic/Likely pathogenic	797045094	RCV000857278\|RCV001858539;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	90988132	90988132	10:g.90988132G>T	-
NM_000235.4(LIPA):c.230-15A>G	3988	LIPA	Conflicting interpretations of pathogenicity	199978109	RCV000260985\|RCV001093932;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	90988170	90988170	10:g.90988170T>C	ClinGen:CA5593776	CN438428 Wolman disease;
NM_000235.4(LIPA):c.229+6G>A	3988	LIPA	Uncertain significance	778866130	RCV001102773;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005427	91005427	10:g.91005427C>T	-
NM_000235.4(LIPA):c.226A>T (p.Lys76Ter)	3988	LIPA	Likely pathogenic	-1	RCV002306548;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005436	91005436	91005436	-
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)	3988	LIPA	Pathogenic	779712562	RCV000674535\|RCV000760967;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	91005469	91005469	NC_000010.10:g.91005469G>A	-
NM_000235.4(LIPA):c.170A>T (p.Asp57Val)	3988	LIPA	Likely pathogenic	768411839	RCV000857280;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005492	91005492	10:g.91005492T>A	-
NM_000235.4(LIPA):c.170A>G (p.Asp57Gly)	3988	LIPA	Likely pathogenic	768411839	RCV000857279;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005492	91005492	10:g.91005492T>C	-
NM_000235.4(LIPA):c.160G>T (p.Glu54Ter)	3988	LIPA	Likely pathogenic	1843015393	RCV001263957;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005502	91005502	10:g.91005502C>A	-
NM_000235.4(LIPA):c.158T>G (p.Val53Gly)	3988	LIPA	Likely pathogenic	749625288	RCV000857281;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005504	91005504	10:g.91005504A>C	-
NM_000235.4(LIPA):c.149A>G (p.Glu50Gly)	3988	LIPA	Likely pathogenic	772137750	RCV000857282;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005513	91005513	10:g.91005513T>C	-
NM_000235.4(LIPA):c.140C>A (p.Pro47His)	3988	LIPA	Uncertain significance	775608408	RCV001342897\|RCV001836332;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005522	91005522	91005522	-
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)	3988	LIPA	Likely pathogenic	-1	RCV002309838;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91005531	91005531	91005531	-
NM_000235.4(LIPA):c.112-6C>T	3988	LIPA	Benign	141302830	RCV000177021\|RCV000974702\|RCV001507211;	N	MedGen:CN169374\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	91005556	91005556	10:g.91005556G>A	ClinGen:CA202233	CN169374 not specified;
NM_000235.4(LIPA):c.112-9T>C	3988	LIPA	Conflicting interpretations of pathogenicity	200186130	RCV000675916\|RCV001083223\|RCV001450070;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	91005559	91005559	10:g.91005559A>G	ClinGen:CA5593809	CN517202 not provided;
NM_000235.4(LIPA):c.111+13A>G	3988	LIPA	Conflicting interpretations of pathogenicity	375237841	RCV000316246\|RCV001093973;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91007282	91007282	NC_000010.10:g.91007282T>C	ClinGen:CA5593823	CN438428 Wolman disease;
NM_000235.4(LIPA):c.111+2T>G	3988	LIPA	Likely pathogenic	1554869292	RCV000670733;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91007293	91007293	10:g.91007293A>C	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.111+1G>A	3988	LIPA	Pathogenic/Likely pathogenic	762960877	RCV002234746\|RCV003225126;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91007294	91007294	10:g.91007294C>T	-
NM_000235.4(LIPA):c.76C>T (p.Leu26=)	3988	LIPA	Likely benign	377437637	RCV001440895\|RCV001826258\|RCV002405036;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	91007330	91007330	91007330	-
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)	3988	LIPA	Benign/Likely benign	1051339	RCV000252335\|RCV000280849\|RCV000675917\|RCV001093974\|RCV002365257;	N	MedGen:CN169374\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:CN230736	10	91007339	91007339	NC_000010.10:g.91007339C>T	ClinGen:CA5593831,UniProtKB:P38571#VAR_026523	CN517202 not provided;
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro)	3988	LIPA	Uncertain significance	886047472	RCV000295971\|RCV001093975\|RCV002520643;	N	MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MeSH:D030342,MedGen:C0950123	10	91007356	91007356	NC_000010.10:g.91007356A>G	ClinGen:CA10636485	CN438428 Wolman disease;
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)	3988	LIPA	Benign/Likely benign	1051338	RCV000175562\|RCV000350905\|RCV000606750\|RCV000675918\|RCV002336425;	N	MedGen:CN169374\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MedGen:C3661900\|MedGen:CN230736	10	91007360	91007360	10:g.91007360T>G	ClinGen:CA201516,UniProtKB:P38571#VAR_004247	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)	3988	LIPA	Uncertain significance	138408240	RCV000731671\|RCV001104686\|RCV002536467;	N	MedGen:CN517202\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761\|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151, Orphanet:75233	10	91007400	91007400	NC_000010.10:g.91007400T>A	-
NM_000235.4(LIPA):c.1A>G (p.Met1Val)	3988	LIPA	Uncertain significance	767039444	RCV000671074;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91007405	91007405	10:g.91007405T>C	-	C0043208 278000 Lysosomal acid lipase deficiency;
NM_000235.4(LIPA):c.-1-64G>T	3988	LIPA	Benign	2250781	RCV000844474\|RCV001537943;	N	MedGen:C3661900\|MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91007470	91007470	10:g.91007470C>A	-
NM_000235.4(LIPA):c.-2+36G>A	3988	LIPA	Benign	1332328	RCV001733653;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91011458	91011458	91011458	-
NM_000235.4(LIPA):c.-2+7G>A	3988	LIPA	Uncertain significance	879494219	RCV001104687;	N	MONDO:MONDO:0010204,MedGen:C2936797,OMIM:278000, Orphanet:275761	10	91011487	91011487	10:g.91011487C>T	-

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