Lrp5 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1001 records found for search term Lrp5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8559247	CV21325	single nucleotide variant	LRP5, 2220C-T	Bone mineral density quantitative trait locus 1 [RCV000006666]	association\|affects				Human		name
153347067	CV1694399	single nucleotide variant	NM_002335.4(LRP5):c.*8C>T	LRP5-related disorder [RCV003916439]\|Osteogenesis imperfecta [RCV002277796]	likely benign\|uncertain significance	11	68449078	68449078	Human	1	name , alternate_id
11642949	CV269162	single nucleotide variant	NM_002335.4(LRP5):c.-8C>T	not provided [RCV000384133]	uncertain significance	11	68312707	68312707	Human		name
401902832	CV2799663	single nucleotide variant	NM_002335.4(LRP5):c.*8C>A	LRP5-related disorder [RCV003419087]	uncertain significance	11	68449078	68449078	Human		name , trait , alternate_id
13833991	CV585231	single nucleotide variant	NM_002335.4(LRP5):c.*4C>T	LRP5-related disorder [RCV004742610]\|not provided [RCV000729392]	likely benign\|uncertain significance	11	68449074	68449074	Human		name , alternate_id
11641061	CV271716	deletion	NM_002335.4(LRP5):c.-19del	not provided [RCV000726017]\|not specified [RCV000348910]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	11	68312694	68312694	Human		name
127236596	CV1078700	single nucleotide variant	NM_002335.4(LRP5):c.91+8G>A	not provided [RCV001392102]	likely benign	11	68312813	68312813	Human		name
127312980	CV1156810	single nucleotide variant	NM_002335.4(LRP5):c.91+9G>C	Bone mineral density quantitative trait locus 1 [RCV002501818]\|LRP5-related disorder [RCV003908857]\|Osteogenesis imperfecta [RCV002276755]\|not provided [RCV001519114]	benign\|likely benign\|uncertain significance	11	68312814	68312814	Human	9	name , alternate_id
150450265	CV1275786	single nucleotide variant	NM_002335.4(LRP5):c.687-48=	not provided [RCV001708241]	benign	11	68363699	68363699	Human		name
151862222	CV1365048	single nucleotide variant	NM_002335.4(LRP5):c.91+1G>T	not provided [RCV002017894]	likely pathogenic	11	68312806	68312806	Human		name
156230171	CV2024180	single nucleotide variant	NM_002335.4(LRP5):c.92-7C>T	LRP5-related disorder [RCV003961118]\|not provided [RCV002745275]	likely benign	11	68347840	68347840	Human		name , alternate_id
156134047	CV2169358	single nucleotide variant	NM_002335.4(LRP5):c.91+4G>A	not provided [RCV003022284]	uncertain significance	11	68312809	68312809	Human		name
405075541	CV3007861	single nucleotide variant	NM_002335.4(LRP5):c.91+9G>A	not provided [RCV003716735]	likely benign	11	68312814	68312814	Human		name
405237556	CV3166636	single nucleotide variant	NM_002335.4(LRP5):c.92-5C>G	not provided [RCV003854086]	likely benign	11	68347842	68347842	Human		name
597967703	CV3794582	single nucleotide variant	NM_002335.4(LRP5):c.91+5G>A	not provided [RCV005140758]	uncertain significance	11	68312810	68312810	Human		name
26913125	CV852386	single nucleotide variant	NM_002335.4(LRP5):c.92-6C>G	not provided [RCV001035218]	likely benign\|uncertain significance	11	68347841	68347841	Human		name
127265531	CV1078702	single nucleotide variant	NM_002335.4(LRP5):c.489-8C>T	not provided [RCV001403587]	likely benign	11	68357642	68357642	Human		name
150420522	CV1180869	single nucleotide variant	NM_002335.4(LRP5):c.92-95A>C	not provided [RCV001551585]	likely benign	11	68347752	68347752	Human		name
152175683	CV1527066	single nucleotide variant	NM_002335.4(LRP5):c.92-12T>A	not provided [RCV002163819]	likely benign	11	68347835	68347835	Human		name
152065689	CV1539813	single nucleotide variant	NM_002335.4(LRP5):c.91+17C>T	not provided [RCV002147392]	likely benign	11	68312822	68312822	Human		name
152119658	CV1547138	single nucleotide variant	NM_002335.4(LRP5):c.91+11G>T	not provided [RCV002154094]	likely benign	11	68312816	68312816	Human		name
152050146	CV1568964	single nucleotide variant	NM_002335.4(LRP5):c.92-13T>C	not provided [RCV002207416]	likely benign	11	68347834	68347834	Human		name
152175947	CV1580217	single nucleotide variant	NM_002335.4(LRP5):c.883+8C>T	not provided [RCV002164085]	likely benign	11	68363951	68363951	Human		name
152123158	CV1594180	single nucleotide variant	NM_002335.4(LRP5):c.91+12C>T	not provided [RCV002175847]	likely benign	11	68312817	68312817	Human		name
152088474	CV1626172	single nucleotide variant	NM_002335.4(LRP5):c.883+9C>T	Bone mineral density quantitative trait locus 1 [RCV002494442]\|not provided [RCV002131747]	benign\|likely benign	11	68363952	68363952	Human	8	name
153347092	CV1694416	single nucleotide variant	NM_002335.4(LRP5):c.884-2A>G	Osteogenesis imperfecta [RCV002277813]\|not provided [RCV005095997]	likely pathogenic	11	68365569	68365569	Human	1	name
10048711	CV194367	single nucleotide variant	NM_002335.4(LRP5):c.687-8G>A	Increased bone mineral density [RCV002277399]\|not provided [RCV000969606]\|not specified [RCV000178179]	benign\|likely benign	11	68363739	68363739	Human	2	name
156105588	CV2008365	single nucleotide variant	NM_002335.4(LRP5):c.91+15G>T	not provided [RCV002695467]	likely benign	11	68312820	68312820	Human		name
156007833	CV2015141	single nucleotide variant	NM_002335.4(LRP5):c.884-3C>T	not provided [RCV002690357]	uncertain significance	11	68365568	68365568	Human		name
156356785	CV2020078	single nucleotide variant	NM_002335.4(LRP5):c.91+19G>C	not provided [RCV002720588]	likely benign	11	68312824	68312824	Human		name
156135376	CV2022921	single nucleotide variant	NM_002335.4(LRP5):c.92-20G>A	not provided [RCV002740710]	likely benign	11	68347827	68347827	Human		name
156033900	CV2029909	single nucleotide variant	NM_002335.4(LRP5):c.686+7A>G	not provided [RCV002735917]	likely benign	11	68357854	68357854	Human		name
156264244	CV2059533	single nucleotide variant	NM_002335.4(LRP5):c.92-12T>C	not provided [RCV002806432]	likely benign	11	68347835	68347835	Human		name
156079063	CV2098532	single nucleotide variant	NM_002335.4(LRP5):c.488+4A>G	not provided [RCV002912638]	uncertain significance	11	68348247	68348247	Human		name
156040665	CV2130537	single nucleotide variant	NM_002335.4(LRP5):c.686+9C>A	not provided [RCV002949607]	likely benign	11	68357856	68357856	Human		name
11550948	CV254277	single nucleotide variant	NM_002335.4(LRP5):c.884-4T>C	not provided [RCV000712236]\|not specified [RCV000252412]	benign	11	68365567	68365567	Human		name
11641282	CV269167	single nucleotide variant	NM_002335.4(LRP5):c.91+13A>G	not provided [RCV000352709]	uncertain significance	11	68312818	68312818	Human		name
11643681	CV269168	single nucleotide variant	NM_002335.4(LRP5):c.91+19G>A	not provided [RCV000397026]	uncertain significance	11	68312824	68312824	Human		name
402481236	CV2864035	single nucleotide variant	NM_002335.4(LRP5):c.883+5G>A	not provided [RCV003543976]	uncertain significance	11	68363948	68363948	Human		name
405231083	CV3144448	single nucleotide variant	NM_002335.4(LRP5):c.91+17C>G	not provided [RCV003852901]	likely benign	11	68312822	68312822	Human		name
405263653	CV3189782	single nucleotide variant	NM_002335.4(LRP5):c.92-10T>G	LRP5-related disorder [RCV003896831]	likely benign	11	68347837	68347837	Human		name , trait , alternate_id
597622969	CV3551575	single nucleotide variant	NM_002335.4(LRP5):c.884-3C>G	Bone mineral density quantitative trait locus 1 [RCV004819952]	uncertain significance	11	68365568	68365568	Human	5	name
597732884	CV3706775	single nucleotide variant	NM_002335.4(LRP5):c.91+16C>T	Bone mineral density quantitative trait locus 1 [RCV005051120]	uncertain significance	11	68312821	68312821	Human	5	name
597902426	CV3779254	single nucleotide variant	NM_002335.4(LRP5):c.489-5C>A	not provided [RCV005127331]	likely benign	11	68357645	68357645	Human		name
597961880	CV3809015	duplication	NM_002335.4(LRP5):c.91+15dup	not provided [RCV005163917]	likely benign	11	68312818	68312819	Human		name
597957586	CV3814397	single nucleotide variant	NM_002335.4(LRP5):c.687-5T>C	not provided [RCV005162728]	likely benign	11	68363742	68363742	Human		name
15122396	CV787828	single nucleotide variant	NM_002335.4(LRP5):c.489-7G>A	Bone mineral density quantitative trait locus 1 [RCV002489441]\|not provided [RCV000979638]	likely benign	11	68357643	68357643	Human	8	name
38472435	CV960009	single nucleotide variant	NM_002335.4(LRP5):c.687-2A>T	not provided [RCV001231514]	likely pathogenic	11	68363745	68363745	Human		name
126732996	CV1000751	single nucleotide variant	NM_002335.4(LRP5):c.4349-1G>A	not provided [RCV001310973]	pathogenic	11	68439776	68439776	Human		name
126909830	CV1047446	single nucleotide variant	NM_002335.4(LRP5):c.488+14C>T	not provided [RCV001368657]	likely benign\|uncertain significance	11	68348257	68348257	Human		name
126915788	CV1047455	single nucleotide variant	NM_002335.4(LRP5):c.2091+4G>A	not provided [RCV001371120]	uncertain significance	11	68406817	68406817	Human		name
126916701	CV1047465	single nucleotide variant	NM_002335.4(LRP5):c.3427+5G>A	Bone mineral density quantitative trait locus 1 [RCV005005220]\|not provided [RCV001371661]	uncertain significance	11	68425297	68425297	Human	5	name
127252444	CV1056045	single nucleotide variant	NM_002335.4(LRP5):c.2319-2A>C	not provided [RCV001378754]	likely pathogenic	11	68411434	68411434	Human		name
127262602	CV1078703	single nucleotide variant	NM_002335.4(LRP5):c.686+12C>T	not provided [RCV001402687]	likely benign	11	68357859	68357859	Human		name
127258988	CV1078704	single nucleotide variant	NM_002335.4(LRP5):c.686+13G>A	Bone mineral density quantitative trait locus 1 [RCV002499899]\|not provided [RCV001419661]\|not specified [RCV005057385]	benign\|likely benign	11	68357860	68357860	Human	8	name
127232966	CV1078711	single nucleotide variant	NM_002335.4(LRP5):c.1801+9G>A	Bone mineral density quantitative trait locus 1 [RCV002499887]\|not provided [RCV001413694]	likely benign	11	68403708	68403708	Human	8	name
127262490	CV1078721	single nucleotide variant	NM_002335.4(LRP5):c.3428-4G>T	not provided [RCV001402655]	likely benign	11	68425974	68425974	Human		name
127259983	CV1100420	single nucleotide variant	NM_002335.4(LRP5):c.883+19G>A	not provided [RCV001427701]	likely benign	11	68363962	68363962	Human		name
127272933	CV1100422	single nucleotide variant	NM_002335.4(LRP5):c.1015+8G>A	not provided [RCV001442373]	likely benign	11	68365710	68365710	Human		name
127264334	CV1100438	single nucleotide variant	NM_002335.4(LRP5):c.2092-4C>T	not provided [RCV001439606]	likely benign	11	68409910	68409910	Human		name
127280883	CV1100446	single nucleotide variant	NM_002335.4(LRP5):c.3028-7C>G	not provided [RCV001446780]	likely benign	11	68423482	68423482	Human		name
127257280	CV1100453	single nucleotide variant	NM_002335.4(LRP5):c.3427+7G>A	Osteogenesis imperfecta [RCV002276733]\|not provided [RCV001427082]	likely benign\|uncertain significance	11	68425299	68425299	Human	1	name
127252830	CV1100454	single nucleotide variant	NM_002335.4(LRP5):c.3428-8G>T	not provided [RCV001425894]	likely benign	11	68425970	68425970	Human		name
127329227	CV1121905	single nucleotide variant	NM_002335.4(LRP5):c.488+15G>A	Bone mineral density quantitative trait locus 1 [RCV002501626]\|not provided [RCV001470044]	likely benign	11	68348258	68348258	Human	8	name
127320464	CV1121910	single nucleotide variant	NM_002335.4(LRP5):c.1015+9G>C	not provided [RCV001466922]	likely benign	11	68365711	68365711	Human		name
127311717	CV1121914	single nucleotide variant	NM_002335.4(LRP5):c.1584+6G>C	LRP5-related disorder [RCV003965920]\|not provided [RCV001464215]	likely benign	11	68390058	68390058	Human		name , alternate_id
127322222	CV1142779	single nucleotide variant	NM_002335.4(LRP5):c.4348+3A>G	Bone mineral density quantitative trait locus 1 [RCV002488288]\|not provided [RCV001484875]\|not specified [RCV003151331]	likely benign	11	68438685	68438685	Human	8	name
127318473	CV1142781	single nucleotide variant	NM_002335.4(LRP5):c.4489-6C>T	Bone mineral density quantitative trait locus 1 [RCV002495720]\|not provided [RCV001483535]	likely benign	11	68446430	68446430	Human	8	name
127313640	CV1156811	single nucleotide variant	NM_002335.4(LRP5):c.687-17C>T	Bone mineral density quantitative trait locus 1 [RCV002476824]\|not provided [RCV001519314]	benign\|likely benign	11	68363730	68363730	Human	8	name
150486980	CV1237258	single nucleotide variant	NM_002335.4(LRP5):c.488+53C>T	not provided [RCV001654106]	benign	11	68348296	68348296	Human		name
150488638	CV1237511	single nucleotide variant	NM_002335.4(LRP5):c.687-37T>G	not provided [RCV001654360]	benign	11	68363710	68363710	Human		name
150491312	CV1251171	single nucleotide variant	NM_002335.4(LRP5):c.91+277C>G	not provided [RCV001674839]	benign	11	68313082	68313082	Human		name
150507577	CV1256968	single nucleotide variant	NM_002335.4(LRP5):c.686+61C>T	not provided [RCV001678471]	benign	11	68357908	68357908	Human		name
151663254	CV1331019	single nucleotide variant	NM_002335.4(LRP5):c.4349-8C>A	Exudative vitreoretinopathy 4 [RCV001825192]	not provided	11	68439769	68439769	Human		name , alternate_id
151803137	CV1352434	single nucleotide variant	NM_002335.4(LRP5):c.2828-6C>A	not provided [RCV001899250]	uncertain significance	11	68416322	68416322	Human		name
151861398	CV1369329	single nucleotide variant	NM_002335.4(LRP5):c.1801+3G>A	not provided [RCV002034402]	uncertain significance	11	68403702	68403702	Human		name
151772536	CV1418065	single nucleotide variant	NM_002335.4(LRP5):c.3637+4C>T	Bone mineral density quantitative trait locus 1 [RCV005005321]\|not provided [RCV001874593]	uncertain significance	11	68426191	68426191	Human	5	name
151746980	CV1462328	single nucleotide variant	NM_002335.4(LRP5):c.1585-7C>A	not provided [RCV001968754]	likely benign\|uncertain significance	11	68403476	68403476	Human		name
151850778	CV1465997	single nucleotide variant	NM_002335.4(LRP5):c.1584+6G>A	not provided [RCV002033144]	uncertain significance	11	68390058	68390058	Human		name
151742928	CV1478231	single nucleotide variant	NM_002335.4(LRP5):c.883+18C>T	not provided [RCV002005994]	likely benign\|uncertain significance	11	68363961	68363961	Human		name
151864569	CV1478760	single nucleotide variant	NM_002335.4(LRP5):c.3236+2T>G	Bone mineral density quantitative trait locus 1 [RCV005050520]\|not provided [RCV002018176]	pathogenic\|likely pathogenic	11	68423699	68423699	Human	5	name
151803359	CV1491903	single nucleotide variant	NM_002335.4(LRP5):c.4586+3A>G	Bone mineral density quantitative trait locus 1 [RCV005002775]\|not provided [RCV002048180]	uncertain significance	11	68446536	68446536	Human	5	name
151772884	CV1504736	single nucleotide variant	NM_002335.4(LRP5):c.3427+6C>T	Bone mineral density quantitative trait locus 1 [RCV005008363]\|not provided [RCV002009017]	uncertain significance	11	68425298	68425298	Human	5	name
152165618	CV1536692	single nucleotide variant	NM_002335.4(LRP5):c.3237-4G>A	not provided [RCV002160485]	likely benign	11	68425098	68425098	Human		name
152062715	CV1563334	single nucleotide variant	NM_002335.4(LRP5):c.687-19C>A	not provided [RCV002190725]	likely benign	11	68363728	68363728	Human		name
152049155	CV1585500	duplication	NM_002335.4(LRP5):c.488+11dup	Bone mineral density quantitative trait locus 1 [RCV002508047]\|not provided [RCV002145456]	likely benign	11	68348253	68348254	Human	8	name
152149080	CV1593082	single nucleotide variant	NM_002335.4(LRP5):c.4488+7G>A	not provided [RCV002101942]	likely benign	11	68439923	68439923	Human		name
152046154	CV1600293	single nucleotide variant	NM_002335.4(LRP5):c.4488+9C>T	not provided [RCV002088570]	likely benign	11	68439925	68439925	Human		name
152077841	CV1601963	single nucleotide variant	NM_002335.4(LRP5):c.883+11G>A	not provided [RCV002148924]	likely benign	11	68363954	68363954	Human		name
152126003	CV1641882	single nucleotide variant	NM_002335.4(LRP5):c.3237-4G>T	not provided [RCV002176187]	likely benign	11	68425098	68425098	Human		name
152103945	CV1645377	single nucleotide variant	NM_002335.4(LRP5):c.488+17C>T	not provided [RCV002133611]	likely benign	11	68348260	68348260	Human		name
155741243	CV1779889	single nucleotide variant	NM_002335.4(LRP5):c.3763+2T>C	Familial exudative vitreoretinopathy [RCV002302493]\|not provided [RCV003098022]	likely pathogenic\|conflicting interpretations of pathogenicity	11	68429702	68429702	Human	1	name
156205861	CV1874311	single nucleotide variant	NM_002335.4(LRP5):c.4112-2A>G	not provided [RCV003058335]	likely pathogenic	11	68438444	68438444	Human		name
156379115	CV1953810	single nucleotide variant	NM_002335.4(LRP5):c.2827+8C>T	not provided [RCV002583042]	likely benign	11	68414020	68414020	Human		name
156331586	CV1954138	single nucleotide variant	NM_002335.4(LRP5):c.884-18C>G	not provided [RCV002580030]	likely benign	11	68365553	68365553	Human		name
10053205	CV195939	single nucleotide variant	NM_002335.4(LRP5):c.1585-9G>A	Osteogenesis imperfecta [RCV002277429]\|not provided [RCV000180228]\|not specified [RCV004998386]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68403474	68403474	Human	1	name
156339455	CV1961571	single nucleotide variant	NM_002335.4(LRP5):c.884-14C>G	not provided [RCV002580428]	likely benign	11	68365557	68365557	Human		name
156419959	CV1979283	single nucleotide variant	NM_002335.4(LRP5):c.1015+7C>T	not provided [RCV002613207]	likely benign	11	68365709	68365709	Human		name
156252480	CV1993527	single nucleotide variant	NM_002335.4(LRP5):c.883+13T>C	not provided [RCV002627496]	likely benign	11	68363956	68363956	Human		name
156389803	CV1996130	single nucleotide variant	NM_002335.4(LRP5):c.3027+7G>T	not provided [RCV002654265]	likely benign\|uncertain significance	11	68416534	68416534	Human		name
156321616	CV2014553	single nucleotide variant	NM_002335.4(LRP5):c.3764-3C>G	not provided [RCV002672232]	uncertain significance	11	68433599	68433599	Human		name
156359390	CV2016514	single nucleotide variant	NM_002335.4(LRP5):c.3764-4C>T	not provided [RCV002720756]	likely benign	11	68433598	68433598	Human		name
156351377	CV2018994	single nucleotide variant	NM_002335.4(LRP5):c.3764-3C>T	Bone mineral density quantitative trait locus 1 [RCV005008701]\|not provided [RCV002720208]	uncertain significance	11	68433599	68433599	Human	5	name
155905690	CV2027565	single nucleotide variant	NM_002335.4(LRP5):c.3237-5C>G	not provided [RCV002726456]	uncertain significance	11	68425097	68425097	Human		name
156281650	CV2071068	single nucleotide variant	NM_002335.4(LRP5):c.4587-8C>T	not provided [RCV002856405]	likely benign	11	68448801	68448801	Human		name
156229756	CV2093748	single nucleotide variant	NM_002335.4(LRP5):c.2318+1G>T	not provided [RCV002894506]	likely pathogenic	11	68410141	68410141	Human		name
155983641	CV2101190	single nucleotide variant	NM_002335.4(LRP5):c.3427+9C>T	not provided [RCV002882053]	likely benign	11	68425301	68425301	Human		name
156021433	CV2105737	single nucleotide variant	NM_002335.4(LRP5):c.2091+6G>A	not provided [RCV002923083]	uncertain significance	11	68406819	68406819	Human		name
156224605	CV2115294	single nucleotide variant	NM_002335.4(LRP5):c.1801+8C>A	not provided [RCV002932590]	likely benign	11	68403707	68403707	Human		name
156329753	CV2116391	single nucleotide variant	NM_002335.4(LRP5):c.3027+3A>G	not provided [RCV002938299]	uncertain significance	11	68416530	68416530	Human		name
156107107	CV2120952	single nucleotide variant	NM_002335.4(LRP5):c.1801+8C>T	not provided [RCV002952955]	likely benign	11	68403707	68403707	Human		name
156038411	CV2121210	single nucleotide variant	NM_002335.4(LRP5):c.2827+9C>T	not provided [RCV002923814]\|not specified [RCV005239558]	likely benign	11	68414021	68414021	Human		name
8559248	CV21326	single nucleotide variant	NM_002335.4(LRP5):c.4488+2T>G	Exudative vitreoretinopathy 4 [RCV004795379]\|Exudative vitreoretinopathy 4, autosomal dominant [RCV000006667]\|Familial exudative vitreoretinopathy [RCV000505032]\|Inborn genetic diseases [RCV001267021]\|Osteoporosis with pseudoglioma [RCV004821259]\|Retinal dystrophy [RCV004814845]\|not provided [RCV000 ... (more) 489366]	pathogenic	11	68439918	68439918	Human	6	name
155979455	CV2157164	single nucleotide variant	NM_002335.4(LRP5):c.1802-9C>T	not provided [RCV003016305]	likely benign	11	68406515	68406515	Human		name
156340407	CV2174814	single nucleotide variant	NM_002335.4(LRP5):c.4001-3C>T	not provided [RCV003047707]	uncertain significance	11	68436886	68436886	Human		name
156361266	CV2180376	single nucleotide variant	NM_002335.4(LRP5):c.3028-3C>G	not provided [RCV003049039]	uncertain significance	11	68423486	68423486	Human		name
156298370	CV2186315	single nucleotide variant	NM_002335.4(LRP5):c.4001-2A>G	not provided [RCV003061841]	likely pathogenic	11	68436887	68436887	Human		name
11548531	CV254278	single nucleotide variant	NM_002335.4(LRP5):c.1412+8G>A	not provided [RCV000712231]\|not specified [RCV000249210]	benign	11	68386720	68386720	Human		name
11546347	CV254281	single nucleotide variant	NM_002335.4(LRP5):c.2318+6T>C	not provided [RCV001522777]\|not specified [RCV000246341]	benign	11	68410146	68410146	Human		name
401855204	CV2752787	single nucleotide variant	NM_002335.4(LRP5):c.3028-1G>A	Osteoporosis with pseudoglioma [RCV003337841]	likely pathogenic	11	68423488	68423488	Human	1	name
405238639	CV2889163	single nucleotide variant	NM_002335.4(LRP5):c.2828-4C>T	not provided [RCV003556898]	likely benign	11	68416324	68416324	Human		name
405091154	CV2937351	single nucleotide variant	NM_002335.4(LRP5):c.1585-2A>C	not provided [RCV003665243]	pathogenic	11	68403481	68403481	Human		name
405128707	CV2954943	single nucleotide variant	NM_002335.4(LRP5):c.687-11C>G	not provided [RCV003668181]	likely benign	11	68363736	68363736	Human		name
405120638	CV2957631	single nucleotide variant	NM_002335.4(LRP5):c.1585-7C>T	not provided [RCV003667346]	likely benign	11	68403476	68403476	Human		name
405244997	CV2972634	single nucleotide variant	NM_002335.4(LRP5):c.489-16C>T	not provided [RCV003684949]	likely benign	11	68357634	68357634	Human		name
405243149	CV2974888	single nucleotide variant	NM_002335.4(LRP5):c.2828-9C>T	not provided [RCV003684521]	likely benign	11	68416319	68416319	Human		name
405200399	CV2978814	single nucleotide variant	NM_002335.4(LRP5):c.3236+8G>T	not provided [RCV003678127]	likely benign	11	68423705	68423705	Human		name
402523230	CV3014922	single nucleotide variant	NM_002335.4(LRP5):c.2092-8G>C	not provided [RCV003690456]	likely benign	11	68409906	68409906	Human		name
405142995	CV3026501	single nucleotide variant	NM_002335.4(LRP5):c.1801+9G>T	not provided [RCV003702618]	likely benign	11	68403708	68403708	Human		name
405215854	CV3055560	single nucleotide variant	NM_002335.4(LRP5):c.3764-3C>A	not provided [RCV003732644]	uncertain significance	11	68433599	68433599	Human		name
405182921	CV3057712	single nucleotide variant	NM_002335.4(LRP5):c.883+10G>A	not provided [RCV003728971]	likely benign	11	68363953	68363953	Human		name
405034606	CV3130478	single nucleotide variant	NM_002335.4(LRP5):c.687-16G>T	not provided [RCV003830885]	likely benign	11	68363731	68363731	Human		name
404986997	CV3135505	single nucleotide variant	NM_002335.4(LRP5):c.4111+3G>A	Bone mineral density quantitative trait locus 1 [RCV005003733]\|LRP5-related disorder [RCV003981146]\|not provided [RCV003826800]	likely benign\|uncertain significance	11	68437002	68437002	Human	5	name , alternate_id
405053243	CV3138355	single nucleotide variant	NM_002335.4(LRP5):c.687-15C>G	not provided [RCV003832199]	likely benign	11	68363732	68363732	Human		name
405096168	CV3139796	single nucleotide variant	NM_002335.4(LRP5):c.883+10G>C	not provided [RCV003835207]	likely benign	11	68363953	68363953	Human		name
405074266	CV3140665	single nucleotide variant	NM_002335.4(LRP5):c.2092-7C>A	not provided [RCV003833628]	likely benign	11	68409907	68409907	Human		name
405138548	CV3155022	single nucleotide variant	NM_002335.4(LRP5):c.2503+9C>T	not provided [RCV003855260]	likely benign	11	68411629	68411629	Human		name
405232815	CV3157647	single nucleotide variant	NM_002335.4(LRP5):c.2504-6A>G	not provided [RCV003865597]	likely benign	11	68413683	68413683	Human		name
405200865	CV3164914	single nucleotide variant	NM_002335.4(LRP5):c.686+20T>G	not provided [RCV003860775]	likely benign	11	68357867	68357867	Human		name
402473139	CV3172113	single nucleotide variant	NM_002335.4(LRP5):c.1802-8G>A	LRP5-related disorder [RCV003956627]\|not provided [RCV003874716]	likely benign	11	68406516	68406516	Human		name , alternate_id
402496436	CV3179232	single nucleotide variant	NM_002335.4(LRP5):c.686+13G>T	not provided [RCV003877499]	likely benign	11	68357860	68357860	Human		name
405291701	CV3206033	single nucleotide variant	NM_002335.4(LRP5):c.4000+7C>G	LRP5-related disorder [RCV003964122]	likely benign	11	68433845	68433845	Human		name , trait , alternate_id
407475659	CV3494729	single nucleotide variant	NM_002335.4(LRP5):c.4001-7C>T	not specified [RCV004690628]	uncertain significance	11	68436882	68436882	Human		name
12791967	CV362380	single nucleotide variant	NM_002335.4(LRP5):c.4489-2A>G	Osteoporosis with pseudoglioma [RCV000417056]\|not provided [RCV003679002]	likely pathogenic	11	68446434	68446434	Human	1	name
597733064	CV3706790	single nucleotide variant	NM_002335.4(LRP5):c.1015+4A>G	Bone mineral density quantitative trait locus 1 [RCV005051134]	uncertain significance	11	68365706	68365706	Human	5	name
597734516	CV3706816	single nucleotide variant	NM_002335.4(LRP5):c.2503+4A>C	Bone mineral density quantitative trait locus 1 [RCV005051158]	uncertain significance	11	68411624	68411624	Human	5	name
597734301	CV3706822	duplication	NM_002335.4(LRP5):c.2827+2dup	Bone mineral density quantitative trait locus 1 [RCV005051165]	uncertain significance	11	68414013	68414014	Human	5	name
597832061	CV3740109	single nucleotide variant	NM_002335.4(LRP5):c.489-13G>A	not provided [RCV005062808]	likely benign	11	68357637	68357637	Human		name
597970238	CV3750184	single nucleotide variant	NM_002335.4(LRP5):c.1016-6C>G	not provided [RCV005084125]	likely benign	11	68386310	68386310	Human		name
597953472	CV3757057	single nucleotide variant	NM_002335.4(LRP5):c.3027+9C>T	not provided [RCV005079918]	uncertain significance	11	68416536	68416536	Human		name
597943736	CV3765883	single nucleotide variant	NM_002335.4(LRP5):c.687-17C>G	not provided [RCV005119261]	likely benign	11	68363730	68363730	Human		name
597944057	CV3782743	single nucleotide variant	NM_002335.4(LRP5):c.2091+8G>A	not provided [RCV005134283]	likely benign	11	68406821	68406821	Human		name
597956362	CV3792297	single nucleotide variant	NM_002335.4(LRP5):c.3236+3A>G	not provided [RCV005137184]	uncertain significance	11	68423700	68423700	Human		name
597967686	CV3794578	single nucleotide variant	NM_002335.4(LRP5):c.1585-1G>C	not provided [RCV005140754]	pathogenic	11	68403482	68403482	Human		name
597952459	CV3795133	single nucleotide variant	NM_002335.4(LRP5):c.3237-1G>C	not provided [RCV005136345]	likely pathogenic	11	68425101	68425101	Human		name
597958819	CV3797386	single nucleotide variant	NM_002335.4(LRP5):c.686+20T>C	not provided [RCV005138073]	likely benign	11	68357867	68357867	Human		name
597951934	CV3798453	single nucleotide variant	NM_002335.4(LRP5):c.1015+1G>A	not provided [RCV005136234]	pathogenic	11	68365703	68365703	Human		name
597971220	CV3802486	single nucleotide variant	NM_002335.4(LRP5):c.1413-4C>T	not provided [RCV005142084]	likely benign	11	68389877	68389877	Human		name
597927271	CV3819789	single nucleotide variant	NM_002335.4(LRP5):c.489-10C>A	not provided [RCV005156489]	likely benign	11	68357640	68357640	Human		name
597966395	CV3823772	single nucleotide variant	NM_002335.4(LRP5):c.1585-4G>A	not provided [RCV005165192]	likely benign	11	68403479	68403479	Human		name
597912279	CV3834239	single nucleotide variant	NM_002335.4(LRP5):c.687-16G>A	not provided [RCV005183001]	likely benign	11	68363731	68363731	Human		name
597885093	CV3854768	single nucleotide variant	NM_002335.4(LRP5):c.3237-1G>T	not provided [RCV005199613]	likely pathogenic	11	68425101	68425101	Human		name
616934430	CV4012434	single nucleotide variant	NM_002335.4(LRP5):c.4489-8C>T	not specified [RCV005409471]	uncertain significance	11	68446428	68446428	Human		name
8569617	CV45143	single nucleotide variant	NM_002335.4(LRP5):c.4000+9C>T	Increased bone mineral density [RCV002276590]\|Osteogenesis imperfecta [RCV002276589]\|not provided [RCV000949971]\|not specified [RCV000175300]	benign\|likely benign\|uncertain significance	11	68433847	68433847	Human	3	name
13510038	CV482000	single nucleotide variant	NM_002335.4(LRP5):c.1413-7T>A	LRP5-related disorder [RCV003905501]\|Osteoporosis with pseudoglioma [RCV001335928]\|Retinal dystrophy [RCV004817778]\|not provided [RCV000579350]\|not specified [RCV001701094]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68389874	68389874	Human	3	name , alternate_id
8570781	CV48774	single nucleotide variant	NM_002335.4(LRP5):c.1584+1G>A	Osteoporosis with pseudoglioma [RCV000033261]	pathogenic	11	68390053	68390053	Human	1	name
13706031	CV537170	single nucleotide variant	NM_002335.4(LRP5):c.4488+6G>T	Bone mineral density quantitative trait locus 1 [RCV005010642]\|LRP5-related disorder [RCV003953220]\|not provided [RCV000658615]	likely benign\|uncertain significance	11	68439922	68439922	Human	5	name , alternate_id
13833146	CV584374	single nucleotide variant	NM_002335.4(LRP5):c.2827+1G>A	not provided [RCV000728312]	pathogenic	11	68414013	68414013	Human		name
13833147	CV584375	single nucleotide variant	NM_002335.4(LRP5):c.2827+5G>A	Bone mineral density quantitative trait locus 1 [RCV002485859]\|LRP5-related disorder [RCV003918188]\|not provided [RCV000728313]	uncertain significance	11	68414017	68414017	Human	8	name , alternate_id
15147043	CV744568	single nucleotide variant	NM_002335.4(LRP5):c.3237-5C>T	Bone mineral density quantitative trait locus 1 [RCV002502653]\|not provided [RCV000900436]	likely benign	11	68425097	68425097	Human	8	name
15128434	CV744745	single nucleotide variant	NM_002335.4(LRP5):c.1412+9G>A	not provided [RCV000897272]	likely benign	11	68386721	68386721	Human		name
15133531	CV775730	single nucleotide variant	NM_002335.4(LRP5):c.4488+9C>G	not provided [RCV000942583]	likely benign	11	68439925	68439925	Human		name
15182607	CV775870	single nucleotide variant	NM_002335.4(LRP5):c.1802-9C>G	LRP5-related disorder [RCV003970563]\|not provided [RCV000930398]	likely benign	11	68406515	68406515	Human		name , alternate_id
15141996	CV788017	single nucleotide variant	NM_002335.4(LRP5):c.1412+7C>T	not provided [RCV000983077]	likely benign	11	68386719	68386719	Human		name
26891453	CV851457	single nucleotide variant	NM_002335.4(LRP5):c.1015+3G>A	not provided [RCV001060503]	uncertain significance	11	68365705	68365705	Human		name
26890609	CV852391	single nucleotide variant	NM_002335.4(LRP5):c.2091+5C>T	LRP5-related disorder [RCV003963020]\|not provided [RCV001059531]	likely benign\|uncertain significance	11	68406818	68406818	Human		name , alternate_id
26922086	CV852392	single nucleotide variant	NM_002335.4(LRP5):c.4488+4A>T	not provided [RCV001051430]	uncertain significance	11	68439920	68439920	Human		name
40903927	CV917621	single nucleotide variant	NM_002335.4(LRP5):c.1412+1G>A	Exudative vitreoretinopathy 1 [RCV001270175]\|not provided [RCV001863067]	pathogenic	11	68386713	68386713	Human	1	name
38459785	CV920300	single nucleotide variant	NM_002335.4(LRP5):c.883+20C>T	Exudative vitreoretinopathy 4 [RCV001196109]\|not provided [RCV001404038]	likely benign\|uncertain significance	11	68363963	68363963	Human	1	name
38470517	CV940234	single nucleotide variant	NM_002335.4(LRP5):c.3637+5G>A	not provided [RCV001202608]	uncertain significance	11	68426192	68426192	Human		name
38481984	CV941012	single nucleotide variant	NM_002335.4(LRP5):c.4000+1G>T	not provided [RCV001218256]	likely pathogenic	11	68433839	68433839	Human		name
38462609	CV960010	single nucleotide variant	NM_002335.4(LRP5):c.3027+6T>C	not provided [RCV001229738]	uncertain significance	11	68416533	68416533	Human		name
126753246	CV994737	single nucleotide variant	NM_002335.4(LRP5):c.3028-7C>A	not provided [RCV001297869]	likely benign\|uncertain significance	11	68423482	68423482	Human		name
126740167	CV1020932	single nucleotide variant	NM_002335.4(LRP5):c.4001-15G>A	Osteoporosis with pseudoglioma [RCV001335930]	uncertain significance	11	68436874	68436874	Human	1	name
126912316	CV1047454	single nucleotide variant	NM_002335.4(LRP5):c.1412+11C>T	Bone mineral density quantitative trait locus 1 [RCV005005216]\|not provided [RCV001369672]	likely benign\|uncertain significance	11	68386723	68386723	Human	5	name
127255217	CV1078705	single nucleotide variant	NM_002335.4(LRP5):c.1015+20C>T	not provided [RCV001400942]	likely benign	11	68365722	68365722	Human		name
127276580	CV1078717	single nucleotide variant	NM_002335.4(LRP5):c.2504-11T>G	Bone mineral density quantitative trait locus 1 [RCV005050376]\|not provided [RCV001407215]	likely benign\|uncertain significance	11	68413678	68413678	Human	5	name
127267228	CV1078729	single nucleotide variant	NM_002335.4(LRP5):c.4488+15C>T	not provided [RCV001404037]	likely benign	11	68439931	68439931	Human		name
127281198	CV1078730	single nucleotide variant	NM_002335.4(LRP5):c.4488+20A>G	Bone mineral density quantitative trait locus 1 [RCV002493966]\|not provided [RCV001410269]	likely benign	11	68439936	68439936	Human	8	name
127238898	CV1078731	single nucleotide variant	NM_002335.4(LRP5):c.4586+20C>T	not provided [RCV001415187]	likely benign	11	68446553	68446553	Human		name
127278014	CV1100423	single nucleotide variant	NM_002335.4(LRP5):c.1016-19A>G	Bone mineral density quantitative trait locus 1 [RCV002501565]\|not provided [RCV001444733]	likely benign	11	68386297	68386297	Human	8	name
127265285	CV1100437	single nucleotide variant	NM_002335.4(LRP5):c.2092-11C>T	not provided [RCV001429033]	likely benign	11	68409903	68409903	Human		name
127256663	CV1100460	single nucleotide variant	NM_002335.4(LRP5):c.4349-19C>T	not provided [RCV001426856]	likely benign	11	68439758	68439758	Human		name
127277311	CV1100461	single nucleotide variant	NM_002335.4(LRP5):c.4349-16G>A	not provided [RCV001444296]	likely benign	11	68439761	68439761	Human		name
127326410	CV1121927	single nucleotide variant	NM_002335.4(LRP5):c.4348+19G>A	Bone mineral density quantitative trait locus 1 [RCV002476779]\|not provided [RCV001468734]	likely benign	11	68438701	68438701	Human	8	name
127337010	CV1142743	single nucleotide variant	NM_002335.4(LRP5):c.1015+16G>A	not provided [RCV001492532]	likely benign	11	68365718	68365718	Human		name
127336503	CV1142744	single nucleotide variant	NM_002335.4(LRP5):c.1015+17G>C	Bone mineral density quantitative trait locus 1 [RCV002488292]\|not provided [RCV001492182]	likely benign	11	68365719	68365719	Human	8	name
127335131	CV1142777	single nucleotide variant	NM_002335.4(LRP5):c.4111+19C>T	Bone mineral density quantitative trait locus 1 [RCV002495740]\|not provided [RCV001491291]	likely benign	11	68437018	68437018	Human	8	name
127325919	CV1142780	single nucleotide variant	NM_002335.4(LRP5):c.4489-11G>T	not provided [RCV001506135]	likely benign	11	68446425	68446425	Human		name
127313644	CV1156812	single nucleotide variant	NM_002335.4(LRP5):c.1015+15C>T	Bone mineral density quantitative trait locus 1 [RCV002488337]\|not provided [RCV001519315]	benign	11	68365717	68365717	Human	8	name
127290356	CV1156813	single nucleotide variant	NM_002335.4(LRP5):c.2828-18T>C	Bone mineral density quantitative trait locus 1 [RCV002501748]\|not provided [RCV001509801]\|not specified [RCV003994300]	benign\|likely benign	11	68416310	68416310	Human	8	name
127297939	CV1156816	single nucleotide variant	NM_002335.4(LRP5):c.4112-14T>C	Bone mineral density quantitative trait locus 1 [RCV002495792]\|not provided [RCV001513071]	benign\|likely benign	11	68438432	68438432	Human	8	name
150330916	CV1169476	single nucleotide variant	NM_002335.4(LRP5):c.884-153A>C	not provided [RCV001536215]	benign	11	68365418	68365418	Human		name
150330558	CV1172288	single nucleotide variant	NM_002335.4(LRP5):c.883+252A>G	not provided [RCV001538152]	likely benign	11	68364195	68364195	Human		name
150414767	CV1177488	single nucleotide variant	NM_002335.4(LRP5):c.1015+66G>A	not provided [RCV001548279]	likely benign	11	68365768	68365768	Human		name
150415599	CV1177489	single nucleotide variant	NM_002335.4(LRP5):c.1412+48C>A	not provided [RCV001548651]	likely benign	11	68386760	68386760	Human		name
150420250	CV1180870	single nucleotide variant	NM_002335.4(LRP5):c.883+206G>A	not provided [RCV001551453]	likely benign	11	68364149	68364149	Human		name
150414759	CV1191256	single nucleotide variant	NM_002335.4(LRP5):c.3236+52G>A	not provided [RCV001567682]	likely benign	11	68423749	68423749	Human		name
150409703	CV1191258	single nucleotide variant	NM_002335.4(LRP5):c.4111+56G>A	not provided [RCV001565756]	likely benign	11	68437055	68437055	Human		name
150422337	CV1194544	single nucleotide variant	NM_002335.4(LRP5):c.1016-91T>C	not provided [RCV001570999]	likely benign	11	68386225	68386225	Human		name
150420342	CV1194545	single nucleotide variant	NM_002335.4(LRP5):c.1802-86G>A	not provided [RCV001570078]	likely benign	11	68406438	68406438	Human		name
150416864	CV1194547	single nucleotide variant	NM_002335.4(LRP5):c.4587-32G>A	not provided [RCV001568525]	likely benign	11	68448777	68448777	Human		name
150415376	CV1198243	deletion	NM_002335.4(LRP5):c.2092-49del	not provided [RCV001575373]	likely benign	11	68409851	68409851	Human		name
150458741	CV1202809	single nucleotide variant	NM_002335.4(LRP5):c.4111+34C>T	not provided [RCV001586462]	likely benign	11	68437033	68437033	Human		name
150451992	CV1205464	single nucleotide variant	NM_002335.4(LRP5):c.489-267G>A	not provided [RCV001585364]	likely benign	11	68357383	68357383	Human		name
150467718	CV1207142	single nucleotide variant	NM_002335.4(LRP5):c.3236+63C>T	not provided [RCV001587934]	likely benign	11	68423760	68423760	Human		name
150489959	CV1208533	single nucleotide variant	NM_002335.4(LRP5):c.488+218G>T	not provided [RCV001592394]	likely benign	11	68348461	68348461	Human		name
150498844	CV1208987	single nucleotide variant	NM_002335.4(LRP5):c.884-123C>T	not provided [RCV001594204]	likely benign	11	68365448	68365448	Human		name
150513252	CV1211868	single nucleotide variant	NM_002335.4(LRP5):c.883+100G>A	not provided [RCV001598389]	benign	11	68364043	68364043	Human		name
150509191	CV1214238	single nucleotide variant	NM_002335.4(LRP5):c.4348+47G>C	not provided [RCV001596759]	benign	11	68438729	68438729	Human		name
150450653	CV1215269	single nucleotide variant	NM_002335.4(LRP5):c.3764-30G>A	not provided [RCV001611859]	benign	11	68433572	68433572	Human		name
150437217	CV1220686	single nucleotide variant	NM_002335.4(LRP5):c.1413-50G>A	not provided [RCV001609671]	benign	11	68389831	68389831	Human		name
150501936	CV1224337	duplication	NM_002335.4(LRP5):c.884-295dup	not provided [RCV001620978]	benign	11	68365275	68365276	Human		name
150507546	CV1226619	single nucleotide variant	NM_002335.4(LRP5):c.3764-63C>T	not provided [RCV001635987]	benign	11	68433539	68433539	Human		name
150516560	CV1227124	single nucleotide variant	NM_002335.4(LRP5):c.687-217A>C	not provided [RCV001639222]	benign	11	68363530	68363530	Human		name
150442533	CV1233714	duplication	NM_002335.4(LRP5):c.4489-28dup	not provided [RCV001645402]	benign	11	68446407	68446408	Human		name
150486658	CV1234630	single nucleotide variant	NM_002335.4(LRP5):c.488+299T>C	not provided [RCV001654053]	benign	11	68348542	68348542	Human		name
150510678	CV1242468	duplication	NM_002335.4(LRP5):c.884-182dup	not provided [RCV001660819]	benign	11	68365386	68365387	Human		name
150447344	CV1250814	single nucleotide variant	NM_002335.4(LRP5):c.884-308A>G	not provided [RCV001667319]	benign	11	68365263	68365263	Human		name
150476302	CV1251840	deletion	NM_002335.4(LRP5):c.488+134del	not provided [RCV001672039]	benign	11	68348377	68348377	Human		name
150477991	CV1252103	single nucleotide variant	NM_002335.4(LRP5):c.4348+23T>C	not provided [RCV001672303]	benign	11	68438705	68438705	Human		name
150460753	CV1253152	single nucleotide variant	NM_002335.4(LRP5):c.883+201G>A	not provided [RCV001669481]	benign	11	68364144	68364144	Human		name
150453782	CV1260566	single nucleotide variant	NM_002335.4(LRP5):c.1801+62C>T	not provided [RCV001681058]	benign	11	68403761	68403761	Human		name
150487371	CV1262729	single nucleotide variant	NM_002335.4(LRP5):c.1016-74C>T	not provided [RCV001687127]	benign	11	68386242	68386242	Human		name
150479049	CV1273401	single nucleotide variant	NM_002335.4(LRP5):c.3237-52T>G	not provided [RCV001696604]	benign	11	68425050	68425050	Human		name
150462598	CV1276103	single nucleotide variant	NM_002335.4(LRP5):c.2503+78A>G	not provided [RCV001710048]	benign	11	68411698	68411698	Human		name
150451119	CV1276552	single nucleotide variant	NM_002335.4(LRP5):c.3638-82C>T	not provided [RCV001708341]	benign	11	68429493	68429493	Human		name
150445914	CV1278232	single nucleotide variant	NM_002335.4(LRP5):c.883+199G>C	not provided [RCV001707375]	benign	11	68364142	68364142	Human		name
150471715	CV1281053	single nucleotide variant	NM_002335.4(LRP5):c.4488+54C>A	not provided [RCV001713242]	benign	11	68439970	68439970	Human		name
150493224	CV1281760	single nucleotide variant	NM_002335.4(LRP5):c.2503+37C>T	not provided [RCV001716963]	benign	11	68411657	68411657	Human		name
151865395	CV1381012	single nucleotide variant	NM_002335.4(LRP5):c.1802-16C>G	Bone mineral density quantitative trait locus 1 [RCV005050521]\|not provided [RCV002018276]	likely benign\|uncertain significance	11	68406508	68406508	Human	5	name
151739607	CV1381868	single nucleotide variant	NM_002335.4(LRP5):c.3237-16C>A	Bone mineral density quantitative trait locus 1 [RCV002484718]\|not provided [RCV001968014]	uncertain significance	11	68425086	68425086	Human	8	name
151846602	CV1386625	single nucleotide variant	NM_002335.4(LRP5):c.3427+12G>A	Bone mineral density quantitative trait locus 1 [RCV002490144]\|not provided [RCV001882026]	likely benign\|uncertain significance	11	68425304	68425304	Human	8	name
151793755	CV1447294	single nucleotide variant	NM_002335.4(LRP5):c.4111+20G>A	not provided [RCV001876751]	likely benign\|uncertain significance	11	68437019	68437019	Human		name
151815300	CV1485904	single nucleotide variant	NM_002335.4(LRP5):c.1016-11T>A	not provided [RCV002049248]	uncertain significance	11	68386305	68386305	Human		name
152130855	CV1523586	single nucleotide variant	NM_002335.4(LRP5):c.4349-17C>T	Bone mineral density quantitative trait locus 1 [RCV002494297]\|not provided [RCV002136899]	benign\|likely benign	11	68439760	68439760	Human	8	name
152126949	CV1530210	single nucleotide variant	NM_002335.4(LRP5):c.2504-16G>A	not provided [RCV002198803]	likely benign	11	68413673	68413673	Human		name
152078705	CV1533224	single nucleotide variant	NM_002335.4(LRP5):c.4488+16G>A	not provided [RCV002092566]	likely benign	11	68439932	68439932	Human		name
152118176	CV1534894	single nucleotide variant	NM_002335.4(LRP5):c.4112-18T>C	Bone mineral density quantitative trait locus 1 [RCV002494467]\|not provided [RCV002153914]	likely benign	11	68438428	68438428	Human	8	name
152059049	CV1536011	single nucleotide variant	NM_002335.4(LRP5):c.3637+12C>T	not provided [RCV002146563]	likely benign	11	68426199	68426199	Human		name
152145856	CV1543337	single nucleotide variant	NM_002335.4(LRP5):c.3638-18C>G	not provided [RCV002178711]	likely benign	11	68429557	68429557	Human		name
152170859	CV1552421	single nucleotide variant	NM_002335.4(LRP5):c.2318+19C>T	not provided [RCV002143258]	likely benign	11	68410159	68410159	Human		name
152114890	CV1552520	single nucleotide variant	NM_002335.4(LRP5):c.3237-17C>T	not provided [RCV002153528]	likely benign	11	68425085	68425085	Human		name
152123840	CV1563923	single nucleotide variant	NM_002335.4(LRP5):c.4488+16G>C	not provided [RCV002175933]	likely benign	11	68439932	68439932	Human		name
152125137	CV1565502	single nucleotide variant	NM_002335.4(LRP5):c.3638-19T>C	Bone mineral density quantitative trait locus 1 [RCV002500306]\|not provided [RCV002136216]	likely benign	11	68429556	68429556	Human	8	name
152068966	CV1566698	single nucleotide variant	NM_002335.4(LRP5):c.4000+13C>G	not provided [RCV002111187]	likely benign	11	68433851	68433851	Human		name
152050580	CV1569074	single nucleotide variant	NM_002335.4(LRP5):c.1585-10C>T	Bone mineral density quantitative trait locus 1 [RCV002498236]\|not provided [RCV002207470]	likely benign	11	68403473	68403473	Human	8	name
152113040	CV1573414	deletion	NM_002335.4(LRP5):c.4111+12del	not provided [RCV002215754]	likely benign	11	68437010	68437010	Human		name
152085934	CV1573802	single nucleotide variant	NM_002335.4(LRP5):c.4001-19G>A	not provided [RCV002149927]	likely benign	11	68436870	68436870	Human		name
152053681	CV1575079	single nucleotide variant	NM_002335.4(LRP5):c.2828-15C>T	Bone mineral density quantitative trait locus 1 [RCV002500176]\|not provided [RCV002109285]	likely benign	11	68416313	68416313	Human	8	name
152148242	CV1576955	single nucleotide variant	NM_002335.4(LRP5):c.3764-18C>T	not provided [RCV002179047]	likely benign	11	68433584	68433584	Human		name
152084303	CV1577012	single nucleotide variant	NM_002335.4(LRP5):c.4000+15G>A	Bone mineral density quantitative trait locus 1 [RCV002486989]\|not provided [RCV002193427]	likely benign	11	68433853	68433853	Human	8	name
152137285	CV1580393	single nucleotide variant	NM_002335.4(LRP5):c.4000+11C>G	Bone mineral density quantitative trait locus 1 [RCV002500354]\|not provided [RCV002156299]	likely benign	11	68433849	68433849	Human	8	name
152146613	CV1590550	single nucleotide variant	NM_002335.4(LRP5):c.1016-11T>C	not provided [RCV002220147]	likely benign	11	68386305	68386305	Human		name
152047399	CV1591383	single nucleotide variant	NM_002335.4(LRP5):c.1584+13T>C	not provided [RCV002188986]	likely benign	11	68390065	68390065	Human		name
152075496	CV1599651	single nucleotide variant	NM_002335.4(LRP5):c.2319-12T>C	not provided [RCV002075675]	likely benign	11	68411424	68411424	Human		name
152146455	CV1599999	single nucleotide variant	NM_002335.4(LRP5):c.3427+17C>T	not provided [RCV002138871]	likely benign	11	68425309	68425309	Human		name
152078824	CV1602199	single nucleotide variant	NM_002335.4(LRP5):c.3237-15G>A	not provided [RCV002149037]	likely benign	11	68425087	68425087	Human		name
152085714	CV1608231	single nucleotide variant	NM_002335.4(LRP5):c.2503+18G>A	not provided [RCV002212014]	likely benign	11	68411638	68411638	Human		name
152157947	CV1616032	single nucleotide variant	NM_002335.4(LRP5):c.1412+18T>C	not provided [RCV002159117]	likely benign	11	68386730	68386730	Human		name
152030577	CV1622245	single nucleotide variant	NM_002335.4(LRP5):c.2827+12A>G	not provided [RCV002186503]	likely benign	11	68414024	68414024	Human		name
152151864	CV1626649	single nucleotide variant	NM_002335.4(LRP5):c.3637+11G>T	Bone mineral density quantitative trait locus 1 [RCV005008452]\|not provided [RCV002202094]	likely benign\|uncertain significance	11	68426198	68426198	Human	5	name
152124748	CV1630018	single nucleotide variant	NM_002335.4(LRP5):c.4586+17A>C	not provided [RCV002154717]	likely benign	11	68446550	68446550	Human		name
152157124	CV1630474	single nucleotide variant	NM_002335.4(LRP5):c.4587-19C>G	not provided [RCV002122560]	benign	11	68448790	68448790	Human		name
152090197	CV1634128	single nucleotide variant	NM_002335.4(LRP5):c.2319-20T>G	not provided [RCV002194194]	likely benign	11	68411416	68411416	Human		name
152101609	CV1645859	single nucleotide variant	NM_002335.4(LRP5):c.3428-14C>T	not provided [RCV002173180]	likely benign	11	68425964	68425964	Human		name
152108911	CV1648385	single nucleotide variant	NM_002335.4(LRP5):c.4000+14C>T	not provided [RCV002116288]	likely benign	11	68433852	68433852	Human		name
152170272	CV1650980	single nucleotide variant	NM_002335.4(LRP5):c.1412+12G>A	Bone mineral density quantitative trait locus 1 [RCV002480999]\|not provided [RCV002143064]	likely benign	11	68386724	68386724	Human	8	name
152111202	CV1651261	single nucleotide variant	NM_002335.4(LRP5):c.1413-20G>C	not provided [RCV002134509]	likely benign	11	68389861	68389861	Human		name
152143262	CV1651452	single nucleotide variant	NM_002335.4(LRP5):c.2318+20G>A	not provided [RCV002138444]	likely benign	11	68410160	68410160	Human		name
152172954	CV1652812	single nucleotide variant	NM_002335.4(LRP5):c.3236+14G>A	not provided [RCV002143949]	likely benign	11	68423711	68423711	Human		name
152078226	CV1661248	single nucleotide variant	NM_002335.4(LRP5):c.3236+13C>T	not provided [RCV002130509]	likely benign	11	68423710	68423710	Human		name
152163811	CV1662482	single nucleotide variant	NM_002335.4(LRP5):c.1016-10G>A	Bone mineral density quantitative trait locus 1 [RCV002500325]\|not provided [RCV002141391]	likely benign	11	68386306	68386306	Human	8	name
152062896	CV1663822	single nucleotide variant	NM_002335.4(LRP5):c.3428-16C>T	not provided [RCV002073894]	likely benign	11	68425962	68425962	Human		name
155268756	CV1705583	single nucleotide variant	NM_002335.4(LRP5):c.3427+37C>T	not provided [RCV002286190]	likely benign	11	68425329	68425329	Human		name
10048028	CV191999	single nucleotide variant	NM_002335.4(LRP5):c.4000+10T>A	Increased bone mineral density [RCV002277354]\|Osteogenesis imperfecta [RCV002277353]\|not provided [RCV000956972]\|not specified [RCV000175298]	benign	11	68433848	68433848	Human	3	name
156178371	CV1953287	single nucleotide variant	NM_002335.4(LRP5):c.1801+19A>G	not provided [RCV002574035]	likely benign	11	68403718	68403718	Human		name
156406493	CV1963651	single nucleotide variant	NM_002335.4(LRP5):c.3027+11T>C	not provided [RCV002585926]	likely benign	11	68416538	68416538	Human		name
156251617	CV1963778	single nucleotide variant	NM_002335.4(LRP5):c.2091+17C>T	not provided [RCV002576559]	likely benign	11	68406830	68406830	Human		name
156126547	CV1969450	single nucleotide variant	NM_002335.4(LRP5):c.3637+18G>C	not provided [RCV002593332]	likely benign	11	68426205	68426205	Human		name
156382288	CV1978984	single nucleotide variant	NM_002335.4(LRP5):c.3428-20G>A	not provided [RCV002604051]	likely benign	11	68425958	68425958	Human		name
156395916	CV1980445	single nucleotide variant	NM_002335.4(LRP5):c.3027+13T>G	not provided [RCV002605127]	likely benign	11	68416540	68416540	Human		name
156414096	CV1986474	single nucleotide variant	NM_002335.4(LRP5):c.3427+11C>T	not provided [RCV002609046]	likely benign	11	68425303	68425303	Human		name
156329238	CV1990847	single nucleotide variant	NM_002335.4(LRP5):c.3236+12A>G	not provided [RCV002630834]	likely benign	11	68423709	68423709	Human		name
156037903	CV1998863	single nucleotide variant	NM_002335.4(LRP5):c.2504-17C>G	not provided [RCV002658920]	likely benign	11	68413672	68413672	Human		name
156105019	CV2008336	single nucleotide variant	NM_002335.4(LRP5):c.2504-19C>T	not provided [RCV002695447]	likely benign	11	68413670	68413670	Human		name
156206522	CV2011281	single nucleotide variant	NM_002335.4(LRP5):c.1015+12G>C	not provided [RCV002700466]	likely benign	11	68365714	68365714	Human		name
156219316	CV2015420	single nucleotide variant	NM_002335.4(LRP5):c.3638-20G>A	not provided [RCV002700943]	likely benign	11	68429555	68429555	Human		name
156322711	CV2022259	single nucleotide variant	NM_002335.4(LRP5):c.2091+18G>A	not provided [RCV002717201]	likely benign	11	68406831	68406831	Human		name
156033155	CV2029872	single nucleotide variant	NM_002335.4(LRP5):c.1585-18A>G	not provided [RCV002735888]	likely benign	11	68403465	68403465	Human		name
155944901	CV2032629	single nucleotide variant	NM_002335.4(LRP5):c.2319-15C>G	not provided [RCV002730345]	likely benign	11	68411421	68411421	Human		name
156144929	CV2037266	single nucleotide variant	NM_002335.4(LRP5):c.3638-11T>G	not provided [RCV002786653]\|not specified [RCV005239506]	likely benign	11	68429564	68429564	Human		name
156080190	CV2049997	single nucleotide variant	NM_002335.4(LRP5):c.1802-17T>C	not provided [RCV002823829]	likely benign	11	68406507	68406507	Human		name
156069907	CV2065730	single nucleotide variant	NM_002335.4(LRP5):c.4349-19C>G	not provided [RCV002847043]	likely benign	11	68439758	68439758	Human		name
155911919	CV2069591	single nucleotide variant	NM_002335.4(LRP5):c.1801+20A>G	not provided [RCV002837780]	likely benign	11	68403719	68403719	Human		name
156010209	CV2079559	single nucleotide variant	NM_002335.4(LRP5):c.1802-14G>A	not provided [RCV002866064]	likely benign	11	68406510	68406510	Human		name
156237280	CV2090256	single nucleotide variant	NM_002335.4(LRP5):c.4001-18C>G	not provided [RCV002894783]	likely benign	11	68436871	68436871	Human		name
156053197	CV2101837	single nucleotide variant	NM_002335.4(LRP5):c.4489-12G>A	not provided [RCV002886233]	uncertain significance	11	68446424	68446424	Human		name
156289930	CV2111312	single nucleotide variant	NM_002335.4(LRP5):c.4001-13C>A	not provided [RCV002922110]	likely benign	11	68436876	68436876	Human		name
155935493	CV2114113	single nucleotide variant	NM_002335.4(LRP5):c.3027+12G>A	not provided [RCV002904102]	likely benign	11	68416539	68416539	Human		name
156175122	CV2144704	deletion	NM_002335.4(LRP5):c.1801+14del	not provided [RCV003005520]	benign	11	68403708	68403708	Human		name
156192032	CV2146245	single nucleotide variant	NM_002335.4(LRP5):c.2091+20G>A	not provided [RCV003006033]	likely benign	11	68406833	68406833	Human		name
155912136	CV2148372	single nucleotide variant	NM_002335.4(LRP5):c.2319-10T>C	not provided [RCV002991398]	likely benign	11	68411426	68411426	Human		name
155931386	CV2156615	single nucleotide variant	NM_002335.4(LRP5):c.2503+18G>C	not provided [RCV003013651]	likely benign	11	68411638	68411638	Human		name
156362090	CV2158938	single nucleotide variant	NM_002335.4(LRP5):c.4349-20C>T	not provided [RCV003031638]	likely benign	11	68439757	68439757	Human		name
156110144	CV2161236	single nucleotide variant	NM_002335.4(LRP5):c.2828-17G>A	not provided [RCV003038911]	likely benign	11	68416311	68416311	Human		name
155951067	CV2164993	single nucleotide variant	NM_002335.4(LRP5):c.2828-19C>G	not provided [RCV003032438]	likely benign	11	68416309	68416309	Human		name
156331508	CV2171836	single nucleotide variant	NM_002335.4(LRP5):c.1585-20A>G	not provided [RCV003029795]	likely benign	11	68403463	68403463	Human		name
156014252	CV2177315	single nucleotide variant	NM_002335.4(LRP5):c.1801+12G>A	not provided [RCV003035402]	likely benign	11	68403711	68403711	Human		name
156239365	CV2183922	single nucleotide variant	NM_002335.4(LRP5):c.3638-17T>A	not provided [RCV003059601]	likely benign	11	68429558	68429558	Human		name
156300381	CV2191489	single nucleotide variant	NM_002335.4(LRP5):c.3028-14T>C	not provided [RCV003061933]	likely benign	11	68423475	68423475	Human		name
405154871	CV2949440	single nucleotide variant	NM_002335.4(LRP5):c.3764-14T>C	not provided [RCV003674262]	likely benign	11	68433588	68433588	Human		name
405232591	CV2965127	single nucleotide variant	NM_002335.4(LRP5):c.4000+12C>T	not provided [RCV003682451]	likely benign	11	68433850	68433850	Human		name
405138342	CV2970210	single nucleotide variant	NM_002335.4(LRP5):c.4348+15A>T	not provided [RCV003668981]	likely benign	11	68438697	68438697	Human		name
405165149	CV3018745	single nucleotide variant	NM_002335.4(LRP5):c.3427+19G>T	not provided [RCV003704249]	likely benign	11	68425311	68425311	Human		name
405116157	CV3020083	single nucleotide variant	NM_002335.4(LRP5):c.3638-15G>C	not provided [RCV003700263]	likely benign	11	68429560	68429560	Human		name
405131900	CV3021887	deletion	NM_002335.4(LRP5):c.4000+14del	not provided [RCV003701771]	benign	11	68433849	68433849	Human		name
402484314	CV3036670	single nucleotide variant	NM_002335.4(LRP5):c.2092-11C>A	not provided [RCV003713070]	likely benign	11	68409903	68409903	Human		name
405235241	CV3040833	deletion	NM_002335.4(LRP5):c.1801+18del	not provided [RCV003712229]	likely benign	11	68403715	68403715	Human		name
405238799	CV3081355	single nucleotide variant	NM_002335.4(LRP5):c.4489-15C>G	not provided [RCV003736440]	likely benign	11	68446421	68446421	Human		name
405085546	CV3122028	single nucleotide variant	NM_002335.4(LRP5):c.3427+14G>A	not provided [RCV003810783]	likely benign	11	68425306	68425306	Human		name
405139688	CV3125563	single nucleotide variant	NM_002335.4(LRP5):c.4488+18G>T	Bone mineral density quantitative trait locus 1 [RCV005003724]\|not provided [RCV003816670]	likely benign\|uncertain significance	11	68439934	68439934	Human	5	name
402520333	CV3126844	single nucleotide variant	NM_002335.4(LRP5):c.4586+12C>T	not provided [RCV003824762]	likely benign	11	68446545	68446545	Human		name
404979290	CV3127792	single nucleotide variant	NM_002335.4(LRP5):c.4586+15G>A	not provided [RCV003825824]	likely benign	11	68446548	68446548	Human		name
404992843	CV3132417	single nucleotide variant	NM_002335.4(LRP5):c.4587-15G>T	not provided [RCV003827356]	likely benign	11	68448794	68448794	Human		name
404994400	CV3132574	single nucleotide variant	NM_002335.4(LRP5):c.4586+16C>T	not provided [RCV003827513]	likely benign	11	68446549	68446549	Human		name
405232706	CV3144930	single nucleotide variant	NM_002335.4(LRP5):c.3237-16C>T	not provided [RCV003853187]	likely benign	11	68425086	68425086	Human		name
405156657	CV3152530	single nucleotide variant	NM_002335.4(LRP5):c.1801+14G>A	not provided [RCV003840457]	likely benign	11	68403713	68403713	Human		name
405230840	CV3153945	single nucleotide variant	NM_002335.4(LRP5):c.4586+10C>G	LRP5-related disorder [RCV004741735]\|not provided [RCV003848813]	likely benign	11	68446543	68446543	Human		name , alternate_id
405215826	CV3160759	single nucleotide variant	NM_002335.4(LRP5):c.4488+13G>A	not provided [RCV003862821]	likely benign	11	68439929	68439929	Human		name
405208351	CV3162442	single nucleotide variant	NM_002335.4(LRP5):c.4587-17G>A	not provided [RCV003861741]	likely benign	11	68448792	68448792	Human		name
405240063	CV3166088	single nucleotide variant	NM_002335.4(LRP5):c.2319-11G>C	not provided [RCV003867100]	likely benign	11	68411425	68411425	Human		name
405090898	CV3167772	single nucleotide variant	NM_002335.4(LRP5):c.2504-17C>T	not provided [RCV003852162]	likely benign	11	68413672	68413672	Human		name
597733717	CV3706830	single nucleotide variant	NM_002335.4(LRP5):c.3237-11C>A	Bone mineral density quantitative trait locus 1 [RCV005051173]	uncertain significance	11	68425091	68425091	Human	5	name
597900878	CV3741126	single nucleotide variant	NM_002335.4(LRP5):c.4349-19C>A	not provided [RCV005072289]	likely benign	11	68439758	68439758	Human		name
597884714	CV3745482	single nucleotide variant	NM_002335.4(LRP5):c.4349-18C>T	not provided [RCV005070318]	likely benign	11	68439759	68439759	Human		name
597947643	CV3771729	duplication	NM_002335.4(LRP5):c.3637+13dup	not provided [RCV005120254]	likely benign	11	68426199	68426200	Human		name
597925654	CV3783195	single nucleotide variant	NM_002335.4(LRP5):c.2091+17C>A	not provided [RCV005115881]	likely benign	11	68406830	68406830	Human		name
597973314	CV3801062	single nucleotide variant	NM_002335.4(LRP5):c.2827+16T>A	not provided [RCV005143257]	likely benign	11	68414028	68414028	Human		name
597851177	CV3803731	single nucleotide variant	NM_002335.4(LRP5):c.4488+20A>T	not provided [RCV005145448]	likely benign	11	68439936	68439936	Human		name
597976287	CV3829310	single nucleotide variant	NM_002335.4(LRP5):c.4111+17C>G	not provided [RCV005169759]	likely benign	11	68437016	68437016	Human		name
597970870	CV3832647	single nucleotide variant	NM_002335.4(LRP5):c.1015+19A>G	not provided [RCV005166726]	likely benign	11	68365721	68365721	Human		name
597896065	CV3834544	single nucleotide variant	NM_002335.4(LRP5):c.2319-16C>T	not provided [RCV005180455]	likely benign	11	68411420	68411420	Human		name
14709077	CV666156	single nucleotide variant	NM_002335.4(LRP5):c.1585-11C>T	not provided [RCV000827339]	likely benign	11	68403472	68403472	Human		name
15128439	CV744566	duplication	NM_002335.4(LRP5):c.1801+14dup	not provided [RCV000897273]	likely benign	11	68403707	68403708	Human		name
15114351	CV744573	single nucleotide variant	NM_002335.4(LRP5):c.4488+10G>A	LRP5-related disorder [RCV003940762]\|not provided [RCV000894840]\|not specified [RCV005236404]	benign\|likely benign	11	68439926	68439926	Human		name , alternate_id
15182881	CV744605	single nucleotide variant	NM_002335.4(LRP5):c.2503+10G>A	Bone mineral density quantitative trait locus 1 [RCV002505325]\|LRP5-related disorder [RCV003910865]\|not provided [RCV000907932]	likely benign	11	68411630	68411630	Human	8	name , alternate_id
15155371	CV744609	single nucleotide variant	NM_002335.4(LRP5):c.3027+10C>T	not provided [RCV000902128]	likely benign	11	68416537	68416537	Human		name
15127290	CV787721	single nucleotide variant	NM_002335.4(LRP5):c.1801+10G>C	not provided [RCV000980522]	likely benign	11	68403709	68403709	Human		name
150335980	CV1165037	single nucleotide variant	NM_002335.4(LRP5):c.4586+118C>T	not provided [RCV001530635]	benign	11	68446651	68446651	Human		name
150331121	CV1169477	single nucleotide variant	NM_002335.4(LRP5):c.1584+184C>T	not provided [RCV001536342]	likely benign	11	68390236	68390236	Human		name
150332865	CV1172289	single nucleotide variant	NM_002335.4(LRP5):c.2319-236G>A	not provided [RCV001539205]	benign	11	68411200	68411200	Human		name
150336821	CV1172290	duplication	NM_002335.4(LRP5):c.3637+255dup	not provided [RCV001541211]	benign	11	68426423	68426424	Human		name
150409828	CV1177490	single nucleotide variant	NM_002335.4(LRP5):c.1801+297G>A	not provided [RCV001546382]	likely benign	11	68403996	68403996	Human		name
150415666	CV1177491	single nucleotide variant	NM_002335.4(LRP5):c.3428-179C>T	not provided [RCV001548680]	likely benign	11	68425799	68425799	Human		name
150415782	CV1177492	single nucleotide variant	NM_002335.4(LRP5):c.4489-239C>T	not provided [RCV001548735]	likely benign	11	68446197	68446197	Human		name
150421605	CV1180871	single nucleotide variant	NM_002335.4(LRP5):c.3764-176G>A	not provided [RCV001552092]	likely benign	11	68433426	68433426	Human		name
150422693	CV1180872	single nucleotide variant	NM_002335.4(LRP5):c.4112-319G>C	not provided [RCV001552985]	likely benign	11	68438127	68438127	Human		name
150418296	CV1180873	single nucleotide variant	NM_002335.4(LRP5):c.4349-318C>T	not provided [RCV001550536]	likely benign	11	68439459	68439459	Human		name
150424905	CV1184565	single nucleotide variant	NM_002335.4(LRP5):c.2092-194G>A	not provided [RCV001557288]	likely benign	11	68409720	68409720	Human		name
150426220	CV1184566	single nucleotide variant	NM_002335.4(LRP5):c.3428-270G>A	not provided [RCV001559076]	likely benign	11	68425708	68425708	Human		name
150423877	CV1184567	single nucleotide variant	NM_002335.4(LRP5):c.3428-142C>G	not provided [RCV001555916]	likely benign	11	68425836	68425836	Human		name
150426660	CV1187778	single nucleotide variant	NM_002335.4(LRP5):c.1413-169C>T	not provided [RCV001559860]	likely benign	11	68389712	68389712	Human		name
150429397	CV1187779	single nucleotide variant	NM_002335.4(LRP5):c.2092-137G>A	not provided [RCV001563546]	likely benign	11	68409777	68409777	Human		name
150426685	CV1187780	single nucleotide variant	NM_002335.4(LRP5):c.4587-140G>A	not provided [RCV001559891]	likely benign	11	68448669	68448669	Human		name
150411408	CV1191257	single nucleotide variant	NM_002335.4(LRP5):c.3427+276C>T	not provided [RCV001566558]	likely benign	11	68425568	68425568	Human		name
150405126	CV1191260	single nucleotide variant	NM_002335.4(LRP5):c.4489-163T>G	not provided [RCV001564136]	likely benign	11	68446273	68446273	Human		name
150404892	CV1194546	single nucleotide variant	NM_002335.4(LRP5):c.3637+100G>A	not provided [RCV001571384]	likely benign	11	68426287	68426287	Human		name
150415732	CV1198242	single nucleotide variant	NM_002335.4(LRP5):c.1413-184G>A	not provided [RCV001575529]	likely benign	11	68389697	68389697	Human		name
150414583	CV1198244	single nucleotide variant	NM_002335.4(LRP5):c.2319-125G>A	not provided [RCV001575024]	likely benign	11	68411311	68411311	Human		name
150432774	CV1200795	single nucleotide variant	NM_002335.4(LRP5):c.4349-201T>C	not provided [RCV001581519]	likely benign	11	68439576	68439576	Human		name
150475573	CV1202263	single nucleotide variant	NM_002335.4(LRP5):c.1801+351G>A	not provided [RCV001589506]	likely benign	11	68404050	68404050	Human		name
150486977	CV1203385	single nucleotide variant	NM_002335.4(LRP5):c.2504-239G>A	not provided [RCV001591563]	likely benign	11	68413450	68413450	Human		name
150433492	CV1204101	single nucleotide variant	NM_002335.4(LRP5):c.4111+212G>A	not provided [RCV001581849]	likely benign	11	68437211	68437211	Human		name
150440612	CV1204421	single nucleotide variant	NM_002335.4(LRP5):c.2091+200G>C	not provided [RCV001583526]	likely benign	11	68407013	68407013	Human		name
150452237	CV1205500	single nucleotide variant	NM_002335.4(LRP5):c.4587-222A>G	not provided [RCV001585400]	likely benign	11	68448587	68448587	Human		name
150463108	CV1206684	single nucleotide variant	NM_002335.4(LRP5):c.3237-166C>T	not provided [RCV001587085]	likely benign	11	68424936	68424936	Human		name
150466897	CV1207005	duplication	NM_002335.4(LRP5):c.2828-264dup	not provided [RCV001587797]	likely benign	11	68416054	68416055	Human		name
150468555	CV1207429	single nucleotide variant	NM_002335.4(LRP5):c.4489-162C>A	not provided [RCV001588118]	likely benign	11	68446274	68446274	Human		name
150480676	CV1208064	single nucleotide variant	NM_002335.4(LRP5):c.3637+163C>T	not provided [RCV001590341]	likely benign	11	68426350	68426350	Human		name
150471581	CV1209576	single nucleotide variant	NM_002335.4(LRP5):c.4586+250C>T	not provided [RCV001588687]	likely benign	11	68446783	68446783	Human		name
150506698	CV1210987	single nucleotide variant	NM_002335.4(LRP5):c.2827+136G>A	not provided [RCV001596105]	likely benign	11	68414148	68414148	Human		name
150512200	CV1212941	single nucleotide variant	NM_002335.4(LRP5):c.3237-224T>G	not provided [RCV001598173]	benign	11	68424878	68424878	Human		name
150501089	CV1213282	single nucleotide variant	NM_002335.4(LRP5):c.1413-154C>T	not provided [RCV001594694]	benign	11	68389727	68389727	Human		name
150505634	CV1213575	duplication	NM_002335.4(LRP5):c.2091+160dup	not provided [RCV001595831]	benign	11	68406962	68406963	Human		name
150452702	CV1219746	single nucleotide variant	NM_002335.4(LRP5):c.1585-126A>G	not provided [RCV001612127]	benign	11	68403357	68403357	Human		name
150436798	CV1220606	deletion	NM_002335.4(LRP5):c.2828-264del	not provided [RCV001609590]	benign	11	68416055	68416055	Human		name
150484163	CV1222433	single nucleotide variant	NM_002335.4(LRP5):c.3638-213T>C	not provided [RCV001617436]	benign	11	68429362	68429362	Human		name
150514234	CV1228121	single nucleotide variant	NM_002335.4(LRP5):c.4348+114A>G	not provided [RCV001638399]	benign	11	68438796	68438796	Human		name
150460245	CV1231309	single nucleotide variant	NM_002335.4(LRP5):c.3237-149T>C	not provided [RCV001640873]	benign	11	68424953	68424953	Human		name
150460513	CV1231350	single nucleotide variant	NM_002335.4(LRP5):c.2319-173A>G	not provided [RCV001640915]	benign	11	68411263	68411263	Human		name
150441728	CV1233590	single nucleotide variant	NM_002335.4(LRP5):c.1585-118G>T	not provided [RCV001645278]	benign	11	68403365	68403365	Human		name
150435589	CV1233898	single nucleotide variant	NM_002335.4(LRP5):c.3764-125G>A	not provided [RCV001644025]	benign	11	68433477	68433477	Human		name
150463928	CV1237703	single nucleotide variant	NM_002335.4(LRP5):c.3237-208C>G	not provided [RCV001649709]	benign	11	68424894	68424894	Human		name
150512087	CV1242875	single nucleotide variant	NM_002335.4(LRP5):c.4348+325G>A	not provided [RCV001661229]	benign	11	68439007	68439007	Human		name
150441393	CV1246726	deletion	NM_002335.4(LRP5):c.2092-180del	not provided [RCV001666380]	benign	11	68409731	68409731	Human		name
150459001	CV1248385	single nucleotide variant	NM_002335.4(LRP5):c.1802-131C>T	not provided [RCV001669206]	benign	11	68406393	68406393	Human		name
150469520	CV1249108	single nucleotide variant	NM_002335.4(LRP5):c.4111+253C>T	not provided [RCV001670870]	benign	11	68437252	68437252	Human		name
150449011	CV1253628	single nucleotide variant	NM_002335.4(LRP5):c.4348+182C>T	not provided [RCV001667556]	benign	11	68438864	68438864	Human		name
150453921	CV1260583	single nucleotide variant	NM_002335.4(LRP5):c.2318+100G>A	not provided [RCV001681076]	benign	11	68410240	68410240	Human		name
150440288	CV1265088	single nucleotide variant	NM_002335.4(LRP5):c.1801+935A>C	not provided [RCV001679081]	benign	11	68404634	68404634	Human		name
150468767	CV1267982	duplication	NM_002335.4(LRP5):c.4001-329dup	not provided [RCV001694845]	benign	11	68436553	68436554	Human		name
150447858	CV1270371	single nucleotide variant	NM_002335.4(LRP5):c.2319-269T>C	not provided [RCV001691508]	benign	11	68411167	68411167	Human		name
150449922	CV1273698	single nucleotide variant	NM_002335.4(LRP5):c.2827+141A>G	not provided [RCV001691798]	benign	11	68414153	68414153	Human		name
150487944	CV1274497	single nucleotide variant	NM_002335.4(LRP5):c.1801+725G>A	LRP5-related disorder [RCV003956328]\|not provided [RCV001727946]\|not specified [RCV001699687]	benign\|likely benign	11	68404424	68404424	Human		name , alternate_id
150476842	CV1279338	single nucleotide variant	NM_002335.4(LRP5):c.4587-323G>A	not provided [RCV001714047]	benign	11	68448486	68448486	Human		name
150477816	CV1279526	single nucleotide variant	NM_002335.4(LRP5):c.2319-152G>A	not provided [RCV001714189]	benign	11	68411284	68411284	Human		name
150471710	CV1281052	single nucleotide variant	NM_002335.4(LRP5):c.2318+120C>T	not provided [RCV001713241]	benign	11	68410260	68410260	Human		name
150515171	CV1285451	single nucleotide variant	NM_002335.4(LRP5):c.4112-336T>C	not provided [RCV001722904]	benign	11	68438110	68438110	Human		name
150436829	CV1286434	single nucleotide variant	NM_002335.4(LRP5):c.1412+227G>C	not provided [RCV001724512]	benign	11	68386939	68386939	Human		name
150520951	CV1289958	single nucleotide variant	NM_002335.4(LRP5):c.1801+675A>G	Exudative vitreoretinopathy 4 [RCV005396979]\|LRP5-related disorder [RCV003913350]\|not provided [RCV001730337]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68404374	68404374	Human	6	name , alternate_id
150531989	CV1291742	single nucleotide variant	NM_002335.4(LRP5):c.2091+147T>C	not provided [RCV001733460]	likely benign	11	68406960	68406960	Human		name
156015274	CV2061574	deletion	NM_002335.4(LRP5):c.82_91+21del	not provided [RCV002820342]	likely pathogenic	11	68312790	68312820	Human		name
405238485	CV3081242	single nucleotide variant	NM_002335.4(LRP5):c.1801+729G>A	not provided [RCV003736366]	likely benign	11	68404428	68404428	Human		name
405268747	CV3201136	single nucleotide variant	NM_002335.4(LRP5):c.1801+693G>A	LRP5-related disorder [RCV003899243]	uncertain significance	11	68404392	68404392	Human		name , trait , alternate_id
408373436	CV3515732	single nucleotide variant	NM_002335.4(LRP5):c.1801+724T>C	LRP5-related disorder [RCV004744949]	likely benign	11	68404423	68404423	Human		name , trait , alternate_id
598127818	CV3882902	single nucleotide variant	NM_002335.4(LRP5):c.1801+683C>T	not provided [RCV005234434]	likely benign	11	68404382	68404382	Human		name
127297733	CV1142761	microsatellite	NM_002335.4(LRP5):c.2504-16GT[3]	Bone mineral density quantitative trait locus 1 [RCV002495754]\|not provided [RCV001497837]	likely benign	11	68413673	68413674	Human		name
126747233	CV1009919	duplication	NM_002335.4(LRP5):c.2820_2827+4dup	not provided [RCV001326125]	uncertain significance	11	68414002	68414003	Human		name
11637782	CV269163	single nucleotide variant	NM_002335.4(LRP5):c.9A>T (p.Ala3=)	not provided [RCV000292115]	uncertain significance	11	68312723	68312723	Human		name
13837514	CV588804	microsatellite	NM_002335.4(LRP5):c.883+2_883+3del	not provided [RCV000733959]	likely pathogenic	11	68363943	68363944	Human		name
152084439	CV1533492	duplication	NM_002335.4(LRP5):c.3022_3027+27dup	not provided [RCV002093282]	likely benign	11	68416517	68416518	Human		name
152173295	CV1653025	microsatellite	NM_002335.4(LRP5):c.1015+11GGGAC[3]	not provided [RCV002144060]	likely benign	11	68365712	68365713	Human		name
156203621	CV1952659	single nucleotide variant	NM_002335.4(LRP5):c.15G>C (p.Pro5=)	not provided [RCV002574871]	likely benign	11	68312729	68312729	Human		name
156228863	CV1959026	single nucleotide variant	NM_002335.4(LRP5):c.18C>T (p.Pro6=)	not provided [RCV002596731]	likely benign	11	68312732	68312732	Human		name
11640885	CV269164	single nucleotide variant	NM_002335.4(LRP5):c.12G>A (p.Ala4=)	not provided [RCV000346945]	uncertain significance	11	68312726	68312726	Human		name
596944735	CV3408964	deletion	NM_002335.4(LRP5):c.2409_2503+79del	Retinal dystrophy [RCV004817617]	pathogenic	11	68411525	68411698	Human	2	name
127306524	CV1121901	single nucleotide variant	NM_002335.4(LRP5):c.99G>T (p.Pro33=)	not provided [RCV001455546]	likely benign	11	68347854	68347854	Human		name
151735212	CV1508804	single nucleotide variant	NM_002335.4(LRP5):c.60G>A (p.Leu20=)	not provided [RCV002021728]\|not specified [RCV005406276]	likely benign\|uncertain significance	11	68312774	68312774	Human		name
152036067	CV1545908	single nucleotide variant	NM_002335.4(LRP5):c.78G>C (p.Pro26=)	not provided [RCV002164959]	likely benign	11	68312792	68312792	Human		name
152145906	CV1582733	single nucleotide variant	NM_002335.4(LRP5):c.51G>A (p.Leu17=)	not provided [RCV002201235]	likely benign	11	68312765	68312765	Human		name
152166763	CV1597198	single nucleotide variant	NM_002335.4(LRP5):c.96G>A (p.Ser32=)	LRP5-related disorder [RCV003926321]\|not provided [RCV002204512]	benign\|likely benign	11	68347851	68347851	Human		name , alternate_id
152047065	CV1600490	deletion	NM_002335.4(LRP5):c.883+18_883+45del	not provided [RCV002088671]	likely benign	11	68363953	68363980	Human		name
152051153	CV1607031	single nucleotide variant	NM_002335.4(LRP5):c.57G>C (p.Leu19=)	not provided [RCV002108985]	likely benign	11	68312771	68312771	Human		name
152100737	CV1610892	single nucleotide variant	NM_002335.4(LRP5):c.52C>T (p.Leu18=)	not provided [RCV002133246]	likely benign	11	68312766	68312766	Human		name
153347069	CV1694400	single nucleotide variant	NM_002335.4(LRP5):c.1A>G (p.Met1Val)	Osteogenesis imperfecta [RCV002277797]\|not provided [RCV003546748]	pathogenic\|likely pathogenic	11	68312715	68312715	Human	1	name
156180656	CV2023334	single nucleotide variant	NM_002335.4(LRP5):c.99G>A (p.Pro33=)	not provided [RCV002765604]	likely benign	11	68347854	68347854	Human		name
155916140	CV2033557	deletion	NM_002335.4(LRP5):c.884-17_884-14del	not provided [RCV002750476]	likely benign	11	68365552	68365555	Human		name
156077233	CV2083527	single nucleotide variant	NM_002335.4(LRP5):c.63G>C (p.Ala21=)	not provided [RCV002847267]	likely benign	11	68312777	68312777	Human		name
11637844	CV269166	single nucleotide variant	NM_002335.4(LRP5):c.90G>A (p.Ala30=)	not provided [RCV000293121]	uncertain significance	11	68312804	68312804	Human		name
405221516	CV2966219	duplication	NM_002335.4(LRP5):c.686+18_686+19dup	not provided [RCV003680761]	likely benign	11	68357864	68357865	Human		name
405227031	CV3142825	single nucleotide variant	NM_002335.4(LRP5):c.1A>T (p.Met1Leu)	not provided [RCV003848167]	pathogenic	11	68312715	68312715	Human		name
402476850	CV3173776	single nucleotide variant	NM_002335.4(LRP5):c.37C>T (p.Leu13=)	not provided [RCV003875314]	likely benign	11	68312751	68312751	Human		name
405287618	CV3210769	single nucleotide variant	NM_002335.4(LRP5):c.81C>G (p.Ala27=)	LRP5-related disorder [RCV003924518]	likely benign	11	68312795	68312795	Human		name , trait , alternate_id
597872431	CV3747169	microsatellite	NM_002335.4(LRP5):c.884-18_884-17del	not provided [RCV005068853]	likely benign	11	68365551	68365552	Human		name
26886574	CV852632	deletion	NM_002335.4(LRP5):c.4090_4111+398del	not provided [RCV001055129]	likely pathogenic	11	68436976	68437395	Human		name
126725938	CV994734	deletion	NM_002335.4(LRP5):c.2318+3_2318+6del	Bone mineral density quantitative trait locus 1 [RCV002504455]\|not provided [RCV001302735]	uncertain significance	11	68410141	68410144	Human	8	name
127248940	CV1078701	single nucleotide variant	NM_002335.4(LRP5):c.228C>T (p.Ala76=)	LRP5-related disorder [RCV003908569]\|not provided [RCV001399505]	likely benign	11	68347983	68347983	Human		name , alternate_id
127334908	CV1121902	single nucleotide variant	NM_002335.4(LRP5):c.171C>T (p.Ile57=)	LRP5-related disorder [RCV003921002]\|not provided [RCV001473917]	likely benign	11	68347926	68347926	Human		name , alternate_id
127324625	CV1142739	single nucleotide variant	NM_002335.4(LRP5):c.129A>T (p.Val43=)	not provided [RCV001505705]	likely benign	11	68347884	68347884	Human		name
151753837	CV1471246	single nucleotide variant	NM_002335.4(LRP5):c.249C>T (p.Ser83=)	Bone mineral density quantitative trait locus 1 [RCV005002688]\|not provided [RCV001948418]	likely benign\|uncertain significance	11	68348004	68348004	Human	5	name
151879336	CV1506243	deletion	NM_002335.4(LRP5):c.4488+2_4488+17del	not provided [RCV001886248]	pathogenic	11	68439913	68439928	Human		name
152099854	CV1524686	single nucleotide variant	NM_002335.4(LRP5):c.294C>T (p.Ala98=)	not provided [RCV002172950]	likely benign	11	68348049	68348049	Human		name
152037076	CV1530390	single nucleotide variant	NM_002335.4(LRP5):c.198C>T (p.Ala66=)	LRP5-related disorder [RCV004744225]\|not provided [RCV002107169]	likely benign	11	68347953	68347953	Human		name , alternate_id
152134616	CV1564759	single nucleotide variant	NM_002335.4(LRP5):c.267G>A (p.Gln89=)	not provided [RCV002199780]	likely benign	11	68348022	68348022	Human		name
152033625	CV1581746	single nucleotide variant	NM_002335.4(LRP5):c.243C>T (p.Asp81=)	not provided [RCV002086831]	likely benign	11	68347998	68347998	Human		name
152133914	CV1613238	single nucleotide variant	NM_002335.4(LRP5):c.180C>T (p.Ser60=)	not provided [RCV002155897]	likely benign	11	68347935	68347935	Human		name
152148605	CV1616564	single nucleotide variant	NM_002335.4(LRP5):c.285G>A (p.Thr95=)	not provided [RCV002201617]	likely benign	11	68348040	68348040	Human		name
152070474	CV1622850	single nucleotide variant	NM_002335.4(LRP5):c.201A>C (p.Ala67=)	Bone mineral density quantitative trait locus 1 [RCV002494118]\|not provided [RCV002209911]	likely benign	11	68347956	68347956	Human	8	name
152171476	CV1628311	single nucleotide variant	NM_002335.4(LRP5):c.108A>G (p.Leu36=)	not provided [RCV002183512]	likely benign	11	68347863	68347863	Human		name
152143811	CV1651552	single nucleotide variant	NM_002335.4(LRP5):c.165C>T (p.Ser55=)	not provided [RCV002138513]	likely benign	11	68347920	68347920	Human		name
156403301	CV1885720	single nucleotide variant	NM_002335.4(LRP5):c.126C>T (p.Asp42=)	not provided [RCV003069444]	likely benign	11	68347881	68347881	Human		name
156156372	CV1906576	single nucleotide variant	NM_002335.4(LRP5):c.102C>A (p.Leu34=)	not provided [RCV003082725]	likely benign	11	68347857	68347857	Human		name
156236597	CV1973016	single nucleotide variant	NM_002335.4(LRP5):c.147C>T (p.Gly49=)	not provided [RCV002597000]	likely benign	11	68347902	68347902	Human		name
156127231	CV1993080	single nucleotide variant	NM_002335.4(LRP5):c.204G>A (p.Val68=)	LRP5-related disorder [RCV003984270]\|not provided [RCV002623174]	likely benign	11	68347959	68347959	Human		name , alternate_id
156064154	CV2057618	single nucleotide variant	NM_002335.4(LRP5):c.13C>G (p.Pro5Ala)	not provided [RCV002797197]	uncertain significance	11	68312727	68312727	Human		name
155925082	CV2073879	single nucleotide variant	NM_002335.4(LRP5):c.285G>T (p.Thr95=)	not provided [RCV002838491]	likely benign	11	68348040	68348040	Human		name
155912069	CV2153331	single nucleotide variant	NM_002335.4(LRP5):c.19G>C (p.Gly7Arg)	not provided [RCV003012330]	uncertain significance	11	68312733	68312733	Human		name
156379842	CV2178966	single nucleotide variant	NM_002335.4(LRP5):c.189G>A (p.Glu63=)	not provided [RCV003050402]	likely benign	11	68347944	68347944	Human		name
11643088	CV269165	single nucleotide variant	NM_002335.4(LRP5):c.14C>T (p.Pro5Leu)	not provided [RCV000387467]	uncertain significance	11	68312728	68312728	Human		name
401943287	CV2839993	single nucleotide variant	NM_002335.4(LRP5):c.22C>A (p.Pro8Thr)	not provided [RCV003456780]	uncertain significance	11	68312736	68312736	Human		name
405123834	CV2954190	single nucleotide variant	NM_002335.4(LRP5):c.270C>T (p.Thr90=)	not provided [RCV003667619]	likely benign	11	68348025	68348025	Human		name
405224333	CV2979249	single nucleotide variant	NM_002335.4(LRP5):c.11C>G (p.Ala4Gly)	not provided [RCV003681167]	uncertain significance	11	68312725	68312725	Human		name
405205905	CV3126689	single nucleotide variant	NM_002335.4(LRP5):c.210C>T (p.Phe70=)	not provided [RCV003822623]	likely benign	11	68347965	68347965	Human		name
597902687	CV3741527	single nucleotide variant	NM_002335.4(LRP5):c.219C>T (p.Ser73=)	not provided [RCV005072498]	likely benign	11	68347974	68347974	Human		name
597971839	CV3833196	single nucleotide variant	NM_002335.4(LRP5):c.231G>T (p.Val77=)	not provided [RCV005167093]	likely benign	11	68347986	68347986	Human		name
13523385	CV490566	single nucleotide variant	NM_002335.4(LRP5):c.16C>A (p.Pro6Thr)	Osteogenesis imperfecta [RCV002279379]\|not provided [RCV000712232]\|not specified [RCV000592927]	benign\|likely benign	11	68312730	68312730	Human	1	name
13523319	CV493890	single nucleotide variant	NM_002335.4(LRP5):c.144C>T (p.Ala48=)	LRP5-related disorder [RCV003927943]\|not provided [RCV000592844]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68347899	68347899	Human		name , alternate_id
15160809	CV752896	single nucleotide variant	NM_002335.4(LRP5):c.141C>T (p.Asp47=)	not provided [RCV000925559]\|not specified [RCV001701253]	benign\|likely benign	11	68347896	68347896	Human		name
15143966	CV752897	single nucleotide variant	NM_002335.4(LRP5):c.291C>T (p.Ala97=)	Osteogenesis imperfecta [RCV002279640]\|not provided [RCV000922284]\|not specified [RCV003994167]	benign\|likely benign\|uncertain significance	11	68348046	68348046	Human	1	name
15138166	CV768701	single nucleotide variant	NM_002335.4(LRP5):c.195G>A (p.Ala65=)	not provided [RCV000943353]	likely benign	11	68347950	68347950	Human		name
126754293	CV1009906	single nucleotide variant	NM_002335.4(LRP5):c.345C>T (p.Cys115=)	not provided [RCV001327478]	likely benign\|uncertain significance	11	68348100	68348100	Human		name
127264859	CV1100417	single nucleotide variant	NM_002335.4(LRP5):c.606C>T (p.Ile202=)	not provided [RCV001428942]	likely benign	11	68357767	68357767	Human		name
127267916	CV1100418	single nucleotide variant	NM_002335.4(LRP5):c.642C>G (p.Ala214=)	not provided [RCV001440649]	likely benign	11	68357803	68357803	Human		name
127275296	CV1100419	single nucleotide variant	NM_002335.4(LRP5):c.723C>T (p.Phe241=)	not provided [RCV001443271]	likely benign	11	68363783	68363783	Human		name
127269760	CV1100421	single nucleotide variant	NM_002335.4(LRP5):c.936G>A (p.Leu312=)	not provided [RCV001430360]	likely benign	11	68365623	68365623	Human		name
127295559	CV1121903	single nucleotide variant	NM_002335.4(LRP5):c.309C>T (p.Val103=)	not provided [RCV001477121]	likely benign	11	68348064	68348064	Human		name
127294681	CV1121904	single nucleotide variant	NM_002335.4(LRP5):c.480C>G (p.Pro160=)	not provided [RCV001452296]	likely benign	11	68348235	68348235	Human		name
127330319	CV1121906	single nucleotide variant	NM_002335.4(LRP5):c.519G>A (p.Thr173=)	not provided [RCV001470803]	likely benign	11	68357680	68357680	Human		name
127316405	CV1121907	single nucleotide variant	NM_002335.4(LRP5):c.705C>A (p.Gly235=)	not provided [RCV001465531]	likely benign	11	68363765	68363765	Human		name
127333060	CV1121908	single nucleotide variant	NM_002335.4(LRP5):c.714G>C (p.Thr238=)	not provided [RCV001472649]	likely benign	11	68363774	68363774	Human		name
127293928	CV1121909	single nucleotide variant	NM_002335.4(LRP5):c.789C>T (p.Cys263=)	not provided [RCV001476690]	likely benign	11	68363849	68363849	Human		name
127331834	CV1142740	single nucleotide variant	NM_002335.4(LRP5):c.375G>A (p.Thr125=)	not provided [RCV001489085]	likely benign	11	68348130	68348130	Human		name
127317133	CV1142741	single nucleotide variant	NM_002335.4(LRP5):c.411C>T (p.Leu137=)	not provided [RCV001483073]	likely benign	11	68348166	68348166	Human		name
127289016	CV1142742	single nucleotide variant	NM_002335.4(LRP5):c.537A>C (p.Ala179=)	not provided [RCV001495492]	likely benign	11	68357698	68357698	Human		name
127296473	CV1156814	microsatellite	NM_002335.4(LRP5):c.3236+21_3236+24del	not provided [RCV001512522]	benign	11	68423711	68423714	Human		name
150485073	CV1262018	deletion	NM_002335.4(LRP5):c.488+136_488+194del	not provided [RCV001686709]	benign	11	68348379	68348437	Human		name
151731337	CV1355460	single nucleotide variant	NM_002335.4(LRP5):c.80C>G (p.Ala27Gly)	not provided [RCV001984238]	uncertain significance	11	68312794	68312794	Human		name
151882187	CV1364093	deletion	NM_002335.4(LRP5):c.270del (p.Tyr91fs)	not provided [RCV001999775]	pathogenic	11	68348024	68348024	Human		name
151836646	CV1382515	single nucleotide variant	NM_002335.4(LRP5):c.975G>A (p.Thr325=)	not provided [RCV002031357]	likely benign\|uncertain significance	11	68365662	68365662	Human		name
151774793	CV1424182	single nucleotide variant	NM_002335.4(LRP5):c.417C>T (p.Gly139=)	not provided [RCV002025701]	likely benign\|uncertain significance	11	68348172	68348172	Human		name
151777754	CV1436716	single nucleotide variant	NM_002335.4(LRP5):c.35T>A (p.Leu12Gln)	Bone mineral density quantitative trait locus 1 [RCV005002743]\|not provided [RCV001971791]\|not specified [RCV003987951]	uncertain significance	11	68312749	68312749	Human	5	name
151851166	CV1465101	single nucleotide variant	NM_002335.4(LRP5):c.31C>T (p.Pro11Ser)	Bone mineral density quantitative trait locus 1 [RCV005050503]\|Inborn genetic diseases [RCV004042501]\|not provided [RCV001995981]	uncertain significance	11	68312745	68312745	Human	6	name
151873098	CV1499420	single nucleotide variant	NM_002335.4(LRP5):c.59T>C (p.Leu20Pro)	not provided [RCV001885525]	uncertain significance	11	68312773	68312773	Human		name
151738111	CV1500623	single nucleotide variant	NM_002335.4(LRP5):c.687G>A (p.Arg229=)	not provided [RCV001984961]	uncertain significance	11	68363747	68363747	Human		name
152084524	CV1525497	single nucleotide variant	NM_002335.4(LRP5):c.918C>T (p.Cys306=)	not provided [RCV002131256]	likely benign	11	68365605	68365605	Human		name
152158501	CV1529048	single nucleotide variant	NM_002335.4(LRP5):c.696G>A (p.Val232=)	not provided [RCV002159207]	likely benign	11	68363756	68363756	Human		name
152097809	CV1531562	single nucleotide variant	NM_002335.4(LRP5):c.333C>T (p.Asp111=)	not provided [RCV002213600]	likely benign	11	68348088	68348088	Human		name
152085985	CV1531639	duplication	NM_002335.4(LRP5):c.4488+20_4488+24dup	not provided [RCV002076988]	likely benign	11	68439931	68439932	Human		name
152060780	CV1540853	single nucleotide variant	NM_002335.4(LRP5):c.363G>A (p.Lys121=)	not provided [RCV002190497]	likely benign	11	68348118	68348118	Human		name
152061415	CV1559335	single nucleotide variant	NM_002335.4(LRP5):c.744C>T (p.Asp248=)	not provided [RCV002168046]	likely benign	11	68363804	68363804	Human		name
152114479	CV1573670	single nucleotide variant	NM_002335.4(LRP5):c.870G>A (p.Glu290=)	not provided [RCV002215941]	likely benign	11	68363930	68363930	Human		name
152137240	CV1580382	duplication	NM_002335.4(LRP5):c.1412+21_1412+27dup	not provided [RCV002156294]	likely benign	11	68386728	68386729	Human		name
152047513	CV1580397	deletion	NM_002335.4(LRP5):c.4488+15_4488+30del	Bone mineral density quantitative trait locus 1 [RCV005002800]\|not provided [RCV002166446]	likely benign\|uncertain significance	11	68439919	68439934	Human	5	name
152119134	CV1587566	microsatellite	NM_002335.4(LRP5):c.1015+19_1015+23del	Bone mineral density quantitative trait locus 1 [RCV002494164]\|not provided [RCV002081309]	likely benign	11	68365713	68365717	Human		name
152035585	CV1590428	single nucleotide variant	NM_002335.4(LRP5):c.492C>T (p.Tyr164=)	not provided [RCV002205522]	likely benign	11	68357653	68357653	Human		name
152175297	CV1602206	single nucleotide variant	NM_002335.4(LRP5):c.912C>T (p.Gly304=)	LRP5-related disorder [RCV004744317]\|not provided [RCV002163462]	likely benign	11	68365599	68365599	Human		name , alternate_id
152110155	CV1603398	single nucleotide variant	NM_002335.4(LRP5):c.696G>C (p.Val232=)	not provided [RCV002096741]	likely benign	11	68363756	68363756	Human		name
152037609	CV1605668	single nucleotide variant	NM_002335.4(LRP5):c.924C>T (p.His308=)	Bone mineral density quantitative trait locus 1 [RCV002494008]\|not provided [RCV002087477]	likely benign	11	68365611	68365611	Human	8	name
152137102	CV1608888	single nucleotide variant	NM_002335.4(LRP5):c.426G>C (p.Arg142=)	not provided [RCV002119851]	likely benign	11	68348181	68348181	Human		name
152120003	CV1612204	single nucleotide variant	NM_002335.4(LRP5):c.804G>C (p.Gly268=)	not provided [RCV002135589]	likely benign	11	68363864	68363864	Human		name
152128678	CV1637344	single nucleotide variant	NM_002335.4(LRP5):c.741G>A (p.Gly247=)	not provided [RCV002217763]	likely benign	11	68363801	68363801	Human		name
152065401	CV1641222	single nucleotide variant	NM_002335.4(LRP5):c.630C>T (p.Tyr210=)	not provided [RCV002209259]	likely benign	11	68357791	68357791	Human		name
152040346	CV1649177	single nucleotide variant	NM_002335.4(LRP5):c.435C>T (p.Leu145=)	Bone mineral density quantitative trait locus 1 [RCV005050545]\|not provided [RCV002206251]	likely benign\|uncertain significance	11	68348190	68348190	Human	5	name
152147221	CV1656083	single nucleotide variant	NM_002335.4(LRP5):c.360G>A (p.Lys120=)	not provided [RCV002220235]	likely benign	11	68348115	68348115	Human		name
152048811	CV1656934	single nucleotide variant	NM_002335.4(LRP5):c.339C>T (p.Leu113=)	not provided [RCV002189143]	likely benign	11	68348094	68348094	Human		name
156295386	CV1894179	single nucleotide variant	NM_002335.4(LRP5):c.732G>A (p.Thr244=)	not provided [RCV003087671]	likely benign	11	68363792	68363792	Human		name
10051499	CV193501	single nucleotide variant	NM_002335.4(LRP5):c.639C>T (p.Asp213=)	not provided [RCV000513282]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68357800	68357800	Human		name
156438594	CV1947203	single nucleotide variant	NM_002335.4(LRP5):c.95C>T (p.Ser32Leu)	Bone mineral density quantitative trait locus 1 [RCV005051258]\|not provided [RCV003108538]	uncertain significance	11	68347850	68347850	Human	5	name
156178618	CV1953309	single nucleotide variant	NM_002335.4(LRP5):c.396C>T (p.Ile132=)	not provided [RCV002574043]	likely benign	11	68348151	68348151	Human		name
156287391	CV1964674	single nucleotide variant	NM_002335.4(LRP5):c.315C>T (p.Ser105=)	not provided [RCV002577691]	likely benign	11	68348070	68348070	Human		name
156384975	CV1971888	single nucleotide variant	NM_002335.4(LRP5):c.330C>T (p.Pro110=)	not provided [RCV002604234]	likely benign	11	68348085	68348085	Human		name
156132410	CV1998580	single nucleotide variant	NM_002335.4(LRP5):c.67T>G (p.Cys23Gly)	not provided [RCV002663268]	uncertain significance	11	68312781	68312781	Human		name
156107935	CV2002119	single nucleotide variant	NM_002335.4(LRP5):c.472T>C (p.Leu158=)	not provided [RCV002639826]	likely benign	11	68348227	68348227	Human		name
155907819	CV2027734	single nucleotide variant	NM_002335.4(LRP5):c.43C>G (p.Leu15Val)	not provided [RCV002726582]	uncertain significance	11	68312757	68312757	Human		name
156314604	CV2031812	single nucleotide variant	NM_002335.4(LRP5):c.35T>C (p.Leu12Pro)	not provided [RCV002716729]	uncertain significance	11	68312749	68312749	Human		name
156242015	CV2053143	duplication	NM_002335.4(LRP5):c.1015+14_1015+31dup	not provided [RCV002791386]	likely benign	11	68365713	68365714	Human		name
155944619	CV2072504	single nucleotide variant	NM_002335.4(LRP5):c.387C>T (p.Thr129=)	not provided [RCV002861992]	likely benign	11	68348142	68348142	Human		name
156233898	CV2076031	single nucleotide variant	NM_002335.4(LRP5):c.438C>T (p.Phe146=)	not provided [RCV002830154]	likely benign	11	68348193	68348193	Human		name
156136445	CV2097375	single nucleotide variant	NM_002335.4(LRP5):c.669C>T (p.Asn223=)	not provided [RCV002890139]	likely benign	11	68357830	68357830	Human		name
156221909	CV2115171	single nucleotide variant	NM_002335.4(LRP5):c.681G>A (p.Ser227=)	not provided [RCV002932490]	likely benign	11	68357842	68357842	Human		name
8559229	CV21307	single nucleotide variant	NM_002335.4(LRP5):c.29G>A (p.Trp10Ter)	Osteoporosis with pseudoglioma [RCV000006646]	pathogenic	11	68312743	68312743	Human	1	name
155989578	CV2133544	single nucleotide variant	NM_002335.4(LRP5):c.903G>A (p.Glu301=)	not provided [RCV002996501]	likely benign	11	68365590	68365590	Human		name
156282248	CV2133887	single nucleotide variant	NM_002335.4(LRP5):c.73T>C (p.Cys25Arg)	not provided [RCV003009642]	uncertain significance	11	68312787	68312787	Human		name
156055634	CV2137480	duplication	NM_002335.4(LRP5):c.1015+19_1015+27dup	not provided [RCV003000022]	likely benign	11	68365718	68365719	Human		name
156157688	CV2147146	deletion	NM_002335.4(LRP5):c.1016-15_1016-10del	not provided [RCV003023076]	likely benign	11	68386299	68386304	Human		name
155993954	CV2147799	single nucleotide variant	NM_002335.4(LRP5):c.65T>C (p.Leu22Pro)	not provided [RCV003016961]	uncertain significance	11	68312779	68312779	Human		name
156351841	CV2157602	single nucleotide variant	NM_002335.4(LRP5):c.612G>A (p.Leu204=)	not provided [RCV003030932]	likely benign	11	68357773	68357773	Human		name
156195487	CV2171504	single nucleotide variant	NM_002335.4(LRP5):c.666C>A (p.Ala222=)	not provided [RCV003024272]	likely benign	11	68357827	68357827	Human		name
156395065	CV2181960	single nucleotide variant	NM_002335.4(LRP5):c.80C>T (p.Ala27Val)	not provided [RCV003051772]	uncertain significance	11	68312794	68312794	Human		name
329352904	CV2470628	single nucleotide variant	NM_002335.4(LRP5):c.71G>A (p.Gly24Asp)	Inborn genetic diseases [RCV003200846]	uncertain significance	11	68312785	68312785	Human	1	name
11639972	CV264635	single nucleotide variant	NM_002335.4(LRP5):c.98C>T (p.Pro33Leu)	Bone mineral density quantitative trait locus 1 [RCV005049508]\|not provided [RCV000329117]\|not specified [RCV003479087]	uncertain significance	11	68347853	68347853	Human	5	name
11638248	CV268568	single nucleotide variant	NM_002335.4(LRP5):c.738C>T (p.Ser246=)	LRP5-related disorder [RCV003909960]\|not provided [RCV000300013]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68363798	68363798	Human		name , alternate_id
401924544	CV2804934	single nucleotide variant	NM_002335.4(LRP5):c.753C>T (p.Tyr251=)	not provided [RCV003708800]\|not specified [RCV003404752]	likely benign	11	68363813	68363813	Human		name
402475586	CV2916767	single nucleotide variant	NM_002335.4(LRP5):c.999C>T (p.Gly333=)	not provided [RCV003571369]	uncertain significance	11	68365686	68365686	Human		name
405202699	CV2918756	single nucleotide variant	NM_002335.4(LRP5):c.73T>A (p.Cys25Ser)	not provided [RCV003566012]	uncertain significance	11	68312787	68312787	Human		name
405066437	CV2936663	single nucleotide variant	NM_002335.4(LRP5):c.453C>T (p.Asp151=)	not provided [RCV003659150]	likely benign	11	68348208	68348208	Human		name
405120631	CV3027048	single nucleotide variant	NM_002335.4(LRP5):c.709C>T (p.Leu237=)	not provided [RCV003700637]	likely benign	11	68363769	68363769	Human		name
405209393	CV3034214	single nucleotide variant	NM_002335.4(LRP5):c.468C>T (p.Ile156=)	not provided [RCV003708444]	likely benign	11	68348223	68348223	Human		name
402508101	CV3036202	single nucleotide variant	NM_002335.4(LRP5):c.627C>G (p.Leu209=)	not provided [RCV003715405]	likely benign	11	68357788	68357788	Human		name
405002578	CV3120666	single nucleotide variant	NM_002335.4(LRP5):c.759A>C (p.Thr253=)	not provided [RCV003828268]	likely benign	11	68363819	68363819	Human		name
597732898	CV3706776	single nucleotide variant	NM_002335.4(LRP5):c.92C>G (p.Ala31Gly)	Bone mineral density quantitative trait locus 1 [RCV005051121]	uncertain significance	11	68347847	68347847	Human	5	name
597732964	CV3706781	single nucleotide variant	NM_002335.4(LRP5):c.321G>A (p.Leu107=)	Bone mineral density quantitative trait locus 1 [RCV005051126]	uncertain significance	11	68348076	68348076	Human	5	name
12835447	CV372578	single nucleotide variant	NM_002335.4(LRP5):c.303C>T (p.Asn101=)	LRP5-related disorder [RCV003970206]\|not provided [RCV000916683]	likely benign	11	68348058	68348058	Human		name , alternate_id
12841083	CV372580	single nucleotide variant	NM_002335.4(LRP5):c.375G>T (p.Thr125=)	LRP5-related disorder [RCV003959974]\|not provided [RCV000916684]	likely benign	11	68348130	68348130	Human		name , alternate_id
597864004	CV3742152	single nucleotide variant	NM_002335.4(LRP5):c.867G>A (p.Gln289=)	not provided [RCV005067768]	likely benign	11	68363927	68363927	Human		name
597955845	CV3754488	single nucleotide variant	NM_002335.4(LRP5):c.77C>T (p.Pro26Leu)	not provided [RCV005080338]	uncertain significance	11	68312791	68312791	Human		name
597953198	CV3756893	single nucleotide variant	NM_002335.4(LRP5):c.32C>T (p.Pro11Leu)	not provided [RCV005079754]	uncertain significance	11	68312746	68312746	Human		name
597940615	CV3772823	single nucleotide variant	NM_002335.4(LRP5):c.741G>C (p.Gly247=)	not provided [RCV005118453]	likely benign	11	68363801	68363801	Human		name
13516807	CV489288	deletion	NM_002335.4(LRP5):c.185del (p.Leu62fs)	not provided [RCV000595987]	pathogenic	11	68347940	68347940	Human		name
13517445	CV490560	single nucleotide variant	NM_002335.4(LRP5):c.996C>T (p.Asn332=)	not provided [RCV000596536]	conflicting interpretations of pathogenicity\|uncertain significance	11	68365683	68365683	Human		name
13836886	CV588169	single nucleotide variant	NM_002335.4(LRP5):c.480C>T (p.Pro160=)	not provided [RCV000733130]	conflicting interpretations of pathogenicity\|uncertain significance	11	68348235	68348235	Human		name
14709050	CV656078	single nucleotide variant	NM_002335.4(LRP5):c.459G>A (p.Pro153=)	not provided [RCV000827328]\|not specified [RCV001700466]	benign\|likely benign	11	68348214	68348214	Human		name
15182252	CV724677	single nucleotide variant	NM_002335.4(LRP5):c.486C>T (p.His162=)	LRP5-related disorder [RCV003920649]\|not provided [RCV000885949]	likely benign	11	68348241	68348241	Human		name , alternate_id
15147134	CV738231	single nucleotide variant	NM_002335.4(LRP5):c.714G>A (p.Thr238=)	Bone mineral density quantitative trait locus 1 [RCV002495449]\|not provided [RCV000900454]	likely benign	11	68363774	68363774	Human	8	name
15181135	CV738232	single nucleotide variant	NM_002335.4(LRP5):c.747T>A (p.Thr249=)	not provided [RCV000907515]	likely benign	11	68363807	68363807	Human		name
15198351	CV752898	single nucleotide variant	NM_002335.4(LRP5):c.384G>A (p.Glu128=)	not provided [RCV000912235]	benign	11	68348139	68348139	Human		name
15120766	CV752899	single nucleotide variant	NM_002335.4(LRP5):c.675C>T (p.Asp225=)	Osteogenesis imperfecta [RCV002279637]\|not provided [RCV000918373]\|not specified [RCV001701360]	benign	11	68357836	68357836	Human	1	name
21074057	CV796645	single nucleotide variant	NM_002335.4(LRP5):c.915C>G (p.Gly305=)	not provided [RCV000994675]	likely benign	11	68365602	68365602	Human		name
26899393	CV838880	single nucleotide variant	NM_002335.4(LRP5):c.576G>A (p.Ser192=)	not provided [RCV001067148]	likely benign\|uncertain significance	11	68357737	68357737	Human		name
26885920	CV838881	single nucleotide variant	NM_002335.4(LRP5):c.606C>A (p.Ile202=)	not provided [RCV001054308]	likely benign\|uncertain significance	11	68357767	68357767	Human		name
38484664	CV947619	single nucleotide variant	NM_002335.4(LRP5):c.945C>T (p.Ser315=)	not provided [RCV001236459]	likely benign\|uncertain significance	11	68365632	68365632	Human		name
126739022	CV994722	single nucleotide variant	NM_002335.4(LRP5):c.963C>T (p.Cys321=)	not provided [RCV001295554]	likely benign\|uncertain significance	11	68365650	68365650	Human		name
126773492	CV1009904	single nucleotide variant	NM_002335.4(LRP5):c.181G>A (p.Gly61Ser)	LRP5-related disorder [RCV004743406]\|not provided [RCV001324365]	uncertain significance	11	68347936	68347936	Human		name , alternate_id
126748532	CV1009905	single nucleotide variant	NM_002335.4(LRP5):c.293C>A (p.Ala98Asp)	Bone mineral density quantitative trait locus 1 [RCV005050334]\|not provided [RCV001326359]	uncertain significance	11	68348048	68348048	Human	5	name
126757518	CV1009911	single nucleotide variant	NM_002335.4(LRP5):c.1305G>A (p.Thr435=)	not provided [RCV001317511]	likely benign\|uncertain significance	11	68386605	68386605	Human		name
126741758	CV1030453	single nucleotide variant	NM_002335.4(LRP5):c.130C>T (p.Arg44Trp)	Bone mineral density quantitative trait locus 1 [RCV002493805]\|not provided [RCV001350922]\|not specified [RCV005408860]	uncertain significance	11	68347885	68347885	Human	8	name
126771239	CV1030454	single nucleotide variant	NM_002335.4(LRP5):c.164C>T (p.Ser55Phe)	Bone mineral density quantitative trait locus 1 [RCV002486402]\|Inborn genetic diseases [RCV004036439]\|not provided [RCV001344923]	uncertain significance	11	68347919	68347919	Human	9	name
126924277	CV1047443	single nucleotide variant	NM_002335.4(LRP5):c.119G>A (p.Arg40His)	not provided [RCV001366848]	uncertain significance	11	68347874	68347874	Human		name
126919215	CV1047444	single nucleotide variant	NM_002335.4(LRP5):c.127G>A (p.Val43Ile)	not provided [RCV001373104]	uncertain significance	11	68347882	68347882	Human		name
126912762	CV1047445	single nucleotide variant	NM_002335.4(LRP5):c.289G>T (p.Ala97Ser)	not provided [RCV001369853]	uncertain significance	11	68348044	68348044	Human		name
127234290	CV1078706	single nucleotide variant	NM_002335.4(LRP5):c.1020C>T (p.Ala340=)	not provided [RCV001396405]	likely benign	11	68386320	68386320	Human		name
127238532	CV1078707	single nucleotide variant	NM_002335.4(LRP5):c.1122C>T (p.His374=)	LRP5-related disorder [RCV003908567]\|not provided [RCV001397341]	likely benign	11	68386422	68386422	Human		name , alternate_id
127232343	CV1078708	single nucleotide variant	NM_002335.4(LRP5):c.1147C>T (p.Leu383=)	not provided [RCV001413400]	likely benign	11	68386447	68386447	Human		name
127247176	CV1078709	single nucleotide variant	NM_002335.4(LRP5):c.1452C>T (p.Ile484=)	not provided [RCV001399094]	likely benign	11	68389920	68389920	Human		name
127232078	CV1078710	single nucleotide variant	NM_002335.4(LRP5):c.1638G>A (p.Pro546=)	not provided [RCV001395551]	likely benign	11	68403536	68403536	Human		name
127232322	CV1078712	single nucleotide variant	NM_002335.4(LRP5):c.1863C>T (p.His621=)	not provided [RCV001395638]	likely benign	11	68406585	68406585	Human		name
127245174	CV1078713	single nucleotide variant	NM_002335.4(LRP5):c.2019C>T (p.Gly673=)	not provided [RCV001398683]	likely benign	11	68406741	68406741	Human		name
127250416	CV1078714	single nucleotide variant	NM_002335.4(LRP5):c.2046T>C (p.Phe682=)	Bone mineral density quantitative trait locus 1 [RCV002499896]\|LRP5-related disorder [RCV004743468]\|Osteogenesis imperfecta [RCV002276729]\|not provided [RCV001417575]	likely benign\|uncertain significance	11	68406768	68406768	Human	9	name , alternate_id
127250897	CV1078715	single nucleotide variant	NM_002335.4(LRP5):c.2079C>T (p.Asp693=)	not provided [RCV001417673]	likely benign	11	68406801	68406801	Human		name
127279097	CV1078716	single nucleotide variant	NM_002335.4(LRP5):c.2235G>A (p.Ala745=)	not provided [RCV001408890]	likely benign	11	68410057	68410057	Human		name
127272697	CV1078718	single nucleotide variant	NM_002335.4(LRP5):c.2664C>T (p.Phe888=)	not provided [RCV001405780]	likely benign	11	68413849	68413849	Human		name
127276623	CV1078719	single nucleotide variant	NM_002335.4(LRP5):c.2682G>A (p.Val894=)	not provided [RCV001407228]	likely benign	11	68413867	68413867	Human		name
127246520	CV1100424	single nucleotide variant	NM_002335.4(LRP5):c.1140C>T (p.Tyr380=)	Bone mineral density quantitative trait locus 1 [RCV005050378]\|not provided [RCV001424528]	likely benign\|uncertain significance	11	68386440	68386440	Human	5	name
127283305	CV1100425	single nucleotide variant	NM_002335.4(LRP5):c.1212G>A (p.Gly404=)	LRP5-related disorder [RCV003908665]\|not provided [RCV001448460]	likely benign	11	68386512	68386512	Human		name , alternate_id
127271845	CV1100426	single nucleotide variant	NM_002335.4(LRP5):c.1329G>A (p.Thr443=)	LRP5-related disorder [RCV004743491]\|not provided [RCV001441970]	likely benign	11	68386629	68386629	Human		name , alternate_id
127244094	CV1100427	single nucleotide variant	NM_002335.4(LRP5):c.1344C>G (p.Thr448=)	not provided [RCV001424059]	likely benign	11	68386644	68386644	Human		name
127275813	CV1100428	single nucleotide variant	NM_002335.4(LRP5):c.1494C>T (p.Val498=)	not provided [RCV001432527]	likely benign	11	68389962	68389962	Human		name
127254479	CV1100429	single nucleotide variant	NM_002335.4(LRP5):c.1581C>T (p.Ile527=)	not provided [RCV001437253]\|not specified [RCV005057401]	benign\|likely benign	11	68390049	68390049	Human		name
127278431	CV1100430	single nucleotide variant	NM_002335.4(LRP5):c.1758C>T (p.Pro586=)	not provided [RCV001445070]	likely benign	11	68403656	68403656	Human		name
127252612	CV1100431	single nucleotide variant	NM_002335.4(LRP5):c.1797C>T (p.Val599=)	not provided [RCV001425861]	likely benign	11	68403695	68403695	Human		name
127283413	CV1100432	single nucleotide variant	NM_002335.4(LRP5):c.1833G>A (p.Gly611=)	LRP5-related disorder [RCV003965883]\|not provided [RCV001448521]	likely benign	11	68406555	68406555	Human		name , alternate_id
127260426	CV1100433	single nucleotide variant	NM_002335.4(LRP5):c.1887C>T (p.Ile629=)	Bone mineral density quantitative trait locus 1 [RCV002504723]\|not provided [RCV001438576]	likely benign	11	68406609	68406609	Human	8	name
127273808	CV1100434	single nucleotide variant	NM_002335.4(LRP5):c.1923C>T (p.Ile641=)	Bone mineral density quantitative trait locus 1 [RCV002495595]\|not provided [RCV001431729]	likely benign	11	68406645	68406645	Human	8	name
127242782	CV1100435	single nucleotide variant	NM_002335.4(LRP5):c.1980C>T (p.Leu660=)	not provided [RCV001434711]	likely benign	11	68406702	68406702	Human		name
127267698	CV1100436	single nucleotide variant	NM_002335.4(LRP5):c.1992C>T (p.Asn664=)	Osteogenesis imperfecta [RCV002276735]\|not provided [RCV001440604]	likely benign\|uncertain significance	11	68406714	68406714	Human	1	name
127250233	CV1100439	single nucleotide variant	NM_002335.4(LRP5):c.2208C>T (p.Asp736=)	not provided [RCV001425340]	likely benign	11	68410030	68410030	Human		name
127243440	CV1100440	single nucleotide variant	NM_002335.4(LRP5):c.2250G>A (p.Gln750=)	not provided [RCV001434820]	likely benign	11	68410072	68410072	Human		name
127259605	CV1100441	single nucleotide variant	NM_002335.4(LRP5):c.2376C>T (p.Asp792=)	not provided [RCV001427634]	likely benign	11	68411493	68411493	Human		name
127283677	CV1100442	single nucleotide variant	NM_002335.4(LRP5):c.2631G>A (p.Arg877=)	not provided [RCV001448664]	likely benign	11	68413816	68413816	Human		name
127279616	CV1100443	single nucleotide variant	NM_002335.4(LRP5):c.2661C>T (p.Asp887=)	not provided [RCV001445899]	likely benign	11	68413846	68413846	Human		name
127235825	CV1100444	single nucleotide variant	NM_002335.4(LRP5):c.2763C>T (p.Pro921=)	Bone mineral density quantitative trait locus 1 [RCV002501531]\|not provided [RCV001433195]	likely benign	11	68413948	68413948	Human	8	name
127271538	CV1100445	single nucleotide variant	NM_002335.4(LRP5):c.2829G>A (p.Pro943=)	Osteogenesis imperfecta [RCV002276734]\|not provided [RCV001430997]	likely benign\|conflicting interpretations of pathogenicity	11	68416329	68416329	Human	1	name
127336899	CV1121911	single nucleotide variant	NM_002335.4(LRP5):c.1200G>A (p.Ala400=)	not provided [RCV001475286]	likely benign	11	68386500	68386500	Human		name
127290671	CV1121912	single nucleotide variant	NM_002335.4(LRP5):c.1239C>T (p.Thr413=)	not provided [RCV001458501]	likely benign	11	68386539	68386539	Human		name
127291003	CV1121913	single nucleotide variant	NM_002335.4(LRP5):c.1320C>T (p.Ile440=)	not provided [RCV001451388]	likely benign	11	68386620	68386620	Human		name
127297363	CV1121915	single nucleotide variant	NM_002335.4(LRP5):c.1617C>T (p.Thr539=)	not provided [RCV001477587]	likely benign	11	68403515	68403515	Human		name
127289485	CV1121916	single nucleotide variant	NM_002335.4(LRP5):c.2886C>T (p.Asp962=)	not provided [RCV001450918]	likely benign	11	68416386	68416386	Human		name
127290413	CV1121917	single nucleotide variant	NM_002335.4(LRP5):c.2907C>T (p.Leu969=)	not provided [RCV001458430]	likely benign	11	68416407	68416407	Human		name
127300969	CV1121918	single nucleotide variant	NM_002335.4(LRP5):c.2934C>T (p.Asn978=)	not provided [RCV001454022]	likely benign	11	68416434	68416434	Human		name
127286330	CV1142745	single nucleotide variant	NM_002335.4(LRP5):c.1089C>T (p.Thr363=)	not provided [RCV001494113]	likely benign	11	68386389	68386389	Human		name
127302457	CV1142746	single nucleotide variant	NM_002335.4(LRP5):c.1095C>T (p.Ile365=)	not provided [RCV001499086]	likely benign	11	68386395	68386395	Human		name
127318606	CV1142747	single nucleotide variant	NM_002335.4(LRP5):c.1149A>C (p.Leu383=)	not provided [RCV001483574]	likely benign	11	68386449	68386449	Human		name
127309273	CV1142748	single nucleotide variant	NM_002335.4(LRP5):c.1209C>T (p.Asp403=)	not provided [RCV001501017]	likely benign	11	68386509	68386509	Human		name
127329225	CV1142749	single nucleotide variant	NM_002335.4(LRP5):c.1263C>T (p.Ile421=)	not provided [RCV001487298]	likely benign	11	68386563	68386563	Human		name
127327993	CV1142750	single nucleotide variant	NM_002335.4(LRP5):c.1395A>G (p.Ala465=)	not provided [RCV001506874]	likely benign	11	68386695	68386695	Human		name
127336900	CV1142751	single nucleotide variant	NM_002335.4(LRP5):c.1563C>T (p.Asp521=)	Bone mineral density quantitative trait locus 1 [RCV002501687]\|not provided [RCV001492479]	likely benign	11	68390031	68390031	Human	8	name
127330478	CV1142752	single nucleotide variant	NM_002335.4(LRP5):c.1629C>T (p.Asp543=)	not provided [RCV001488180]	likely benign	11	68403527	68403527	Human		name
127286384	CV1142753	single nucleotide variant	NM_002335.4(LRP5):c.1662G>T (p.Leu554=)	not provided [RCV001494139]	likely benign	11	68403560	68403560	Human		name
127307126	CV1142754	single nucleotide variant	NM_002335.4(LRP5):c.1665G>A (p.Gly555=)	not provided [RCV001480245]	likely benign	11	68403563	68403563	Human		name
127308806	CV1142755	single nucleotide variant	NM_002335.4(LRP5):c.1884C>T (p.Pro628=)	not provided [RCV001500871]	likely benign	11	68406606	68406606	Human		name
127319157	CV1142756	single nucleotide variant	NM_002335.4(LRP5):c.1995C>T (p.Asn665=)	not provided [RCV001503938]	likely benign	11	68406717	68406717	Human		name
127327562	CV1142757	single nucleotide variant	NM_002335.4(LRP5):c.2115C>T (p.Asn705=)	Bone mineral density quantitative trait locus 1 [RCV002495776]\|LRP5-related disorder [RCV003948483]\|not provided [RCV001506679]\|not specified [RCV001729926]	benign\|likely benign	11	68409937	68409937	Human	8	name , alternate_id
127303140	CV1142758	single nucleotide variant	NM_002335.4(LRP5):c.2142G>A (p.Glu714=)	not provided [RCV001499289]	likely benign	11	68409964	68409964	Human		name
127303478	CV1142759	single nucleotide variant	NM_002335.4(LRP5):c.2334C>T (p.Thr778=)	Bone mineral density quantitative trait locus 1 [RCV002488283]\|not provided [RCV001479255]	likely benign	11	68411451	68411451	Human	8	name
127320385	CV1142760	single nucleotide variant	NM_002335.4(LRP5):c.2394G>A (p.Thr798=)	not provided [RCV001504371]	likely benign	11	68411511	68411511	Human		name
127327623	CV1142762	single nucleotide variant	NM_002335.4(LRP5):c.2526C>T (p.Ala842=)	not provided [RCV001486419]	likely benign	11	68413711	68413711	Human		name
127337422	CV1142763	single nucleotide variant	NM_002335.4(LRP5):c.2547C>T (p.Phe849=)	Osteogenesis imperfecta [RCV002276747]\|not provided [RCV001492839]	likely benign	11	68413732	68413732	Human	1	name
127324220	CV1142764	single nucleotide variant	NM_002335.4(LRP5):c.2625C>T (p.Ser875=)	Bone mineral density quantitative trait locus 1 [RCV002501669]\|not provided [RCV001485432]	likely benign	11	68413810	68413810	Human	8	name
127328671	CV1142765	single nucleotide variant	NM_002335.4(LRP5):c.2760C>T (p.Ile920=)	not provided [RCV001486901]	likely benign	11	68413945	68413945	Human		name
127323222	CV1142766	single nucleotide variant	NM_002335.4(LRP5):c.2883G>A (p.Pro961=)	LRP5-related disorder [RCV003956074]\|not provided [RCV001485179]	likely benign	11	68416383	68416383	Human		name , alternate_id
151354599	CV1329732	single nucleotide variant	NM_002335.4(LRP5):c.131G>C (p.Arg44Pro)	Bone mineral density quantitative trait locus 1 [RCV001818097]	uncertain significance	11	68347886	68347886	Human		name
151871128	CV1340501	duplication	NM_002335.4(LRP5):c.346dup (p.Asp116fs)	not provided [RCV001939817]	pathogenic	11	68348100	68348101	Human		name
151784520	CV1344704	single nucleotide variant	NM_002335.4(LRP5):c.1278G>A (p.Val426=)	not provided [RCV001989437]	likely benign\|uncertain significance	11	68386578	68386578	Human		name
151747943	CV1362424	single nucleotide variant	NM_002335.4(LRP5):c.143C>G (p.Ala48Gly)	Bone mineral density quantitative trait locus 1 [RCV002492169]\|not provided [RCV001968860]	uncertain significance	11	68347898	68347898	Human	8	name
151845039	CV1381572	single nucleotide variant	NM_002335.4(LRP5):c.221A>G (p.Lys74Arg)	not provided [RCV001881831]	uncertain significance	11	68347976	68347976	Human		name
151825371	CV1404208	single nucleotide variant	NM_002335.4(LRP5):c.122G>A (p.Arg41Gln)	Bone mineral density quantitative trait locus 1 [RCV005050495]\|not provided [RCV001976135]	uncertain significance	11	68347877	68347877	Human	5	name
151838685	CV1407524	single nucleotide variant	NM_002335.4(LRP5):c.182G>T (p.Gly61Val)	not provided [RCV002051499]	uncertain significance	11	68347937	68347937	Human		name
151762201	CV1433796	single nucleotide variant	NM_002335.4(LRP5):c.118C>G (p.Arg40Gly)	not provided [RCV002024505]	uncertain significance	11	68347873	68347873	Human		name
151711330	CV1440022	single nucleotide variant	NM_002335.4(LRP5):c.184C>G (p.Leu62Val)	not provided [RCV001908070]	uncertain significance	11	68347939	68347939	Human		name
151853784	CV1457151	deletion	NM_002335.4(LRP5):c.772del (p.Arg258fs)	not provided [RCV001883078]	pathogenic	11	68363830	68363830	Human		name
151818885	CV1482155	single nucleotide variant	NM_002335.4(LRP5):c.220A>G (p.Lys74Glu)	Bone mineral density quantitative trait locus 1 [RCV002492373]\|not provided [RCV002029691]	uncertain significance	11	68347975	68347975	Human	8	name
151718073	CV1483684	duplication	NM_002335.4(LRP5):c.480dup (p.Ala161fs)	not provided [RCV001909273]	pathogenic	11	68348231	68348232	Human		name
151711314	CV1497273	single nucleotide variant	NM_002335.4(LRP5):c.148G>A (p.Gly50Arg)	Bone mineral density quantitative trait locus 1 [RCV002492017]\|Inborn genetic diseases [RCV002561540]\|not provided [RCV002002025]	uncertain significance	11	68347903	68347903	Human	9	name
152057487	CV1523193	single nucleotide variant	NM_002335.4(LRP5):c.2295G>T (p.Ser765=)	not provided [RCV002167618]	likely benign	11	68410117	68410117	Human		name
152058461	CV1523333	single nucleotide variant	NM_002335.4(LRP5):c.2052G>T (p.Val684=)	not provided [RCV002167724]	likely benign	11	68406774	68406774	Human		name
152168435	CV1525108	single nucleotide variant	NM_002335.4(LRP5):c.1026G>A (p.Glu342=)	not provided [RCV002182444]	likely benign	11	68386326	68386326	Human		name
152094550	CV1533778	single nucleotide variant	NM_002335.4(LRP5):c.1956A>G (p.Arg652=)	not provided [RCV002151026]	likely benign	11	68406678	68406678	Human		name
152063925	CV1535704	single nucleotide variant	NM_002335.4(LRP5):c.2613C>T (p.Ala871=)	not provided [RCV002168361]	likely benign	11	68413798	68413798	Human		name
152145925	CV1543347	single nucleotide variant	NM_002335.4(LRP5):c.1143C>T (p.Asp381=)	not provided [RCV002178721]	likely benign	11	68386443	68386443	Human		name
152040747	CV1553347	single nucleotide variant	NM_002335.4(LRP5):c.2010G>A (p.Pro670=)	not provided [RCV002087925]	likely benign	11	68406732	68406732	Human		name
152127684	CV1554255	single nucleotide variant	NM_002335.4(LRP5):c.2778C>T (p.Cys926=)	not provided [RCV002176381]	likely benign	11	68413963	68413963	Human		name
152029306	CV1555751	single nucleotide variant	NM_002335.4(LRP5):c.1320C>A (p.Ile440=)	not provided [RCV002186119]	likely benign	11	68386620	68386620	Human		name
152045755	CV1556165	single nucleotide variant	NM_002335.4(LRP5):c.1099C>T (p.Leu367=)	not provided [RCV002206903]	likely benign	11	68386399	68386399	Human		name
152123881	CV1562915	single nucleotide variant	NM_002335.4(LRP5):c.2397G>T (p.Leu799=)	not provided [RCV002118190]	likely benign	11	68411514	68411514	Human		name
152145948	CV1564245	single nucleotide variant	NM_002335.4(LRP5):c.1005G>A (p.Thr335=)	not provided [RCV002138806]	likely benign	11	68365692	68365692	Human		name
152149751	CV1566642	single nucleotide variant	NM_002335.4(LRP5):c.1053C>T (p.Asp351=)	not provided [RCV002139337]	likely benign	11	68386353	68386353	Human		name
152069341	CV1570919	single nucleotide variant	NM_002335.4(LRP5):c.2172C>T (p.Ala724=)	not provided [RCV002129399]	likely benign	11	68409994	68409994	Human		name
152114488	CV1573671	single nucleotide variant	NM_002335.4(LRP5):c.2244C>T (p.Asp748=)	not provided [RCV002215942]	likely benign	11	68410066	68410066	Human		name
152114496	CV1573672	single nucleotide variant	NM_002335.4(LRP5):c.2973C>T (p.Ile991=)	not provided [RCV002215943]	likely benign	11	68416473	68416473	Human		name
152156003	CV1585907	single nucleotide variant	NM_002335.4(LRP5):c.1146G>A (p.Pro382=)	not provided [RCV002140180]	likely benign	11	68386446	68386446	Human		name
152086667	CV1589822	single nucleotide variant	NM_002335.4(LRP5):c.2415G>A (p.Arg805=)	not provided [RCV002193721]	likely benign	11	68411532	68411532	Human		name
152122697	CV1593944	single nucleotide variant	NM_002335.4(LRP5):c.1713G>A (p.Val571=)	not provided [RCV002175788]	likely benign	11	68403611	68403611	Human		name
152042183	CV1603389	single nucleotide variant	NM_002335.4(LRP5):c.1989T>C (p.Asn663=)	not provided [RCV002071164]	likely benign	11	68406711	68406711	Human		name
152129728	CV1607829	single nucleotide variant	NM_002335.4(LRP5):c.2103C>T (p.Arg701=)	not provided [RCV002176639]	likely benign	11	68409925	68409925	Human		name
152114401	CV1612400	single nucleotide variant	NM_002335.4(LRP5):c.2610G>A (p.Arg870=)	not provided [RCV002174736]	likely benign	11	68413795	68413795	Human		name
152147140	CV1615572	single nucleotide variant	NM_002335.4(LRP5):c.2574C>T (p.Ile858=)	not provided [RCV002101650]	likely benign	11	68413759	68413759	Human		name
152157246	CV1615882	single nucleotide variant	NM_002335.4(LRP5):c.1404C>T (p.Pro468=)	not provided [RCV002158997]	likely benign	11	68386704	68386704	Human		name
152147896	CV1618788	single nucleotide variant	NM_002335.4(LRP5):c.2970C>T (p.Phe990=)	not provided [RCV002121336]	likely benign	11	68416470	68416470	Human		name
152065874	CV1620086	single nucleotide variant	NM_002335.4(LRP5):c.1254C>T (p.Pro418=)	not provided [RCV002209331]	likely benign	11	68386554	68386554	Human		name
152156787	CV1630437	single nucleotide variant	NM_002335.4(LRP5):c.1227G>A (p.Thr409=)	not provided [RCV002122535]	likely benign	11	68386527	68386527	Human		name
152077145	CV1632838	single nucleotide variant	NM_002335.4(LRP5):c.1182G>A (p.Val394=)	not provided [RCV002170073]	likely benign\|conflicting interpretations of pathogenicity	11	68386482	68386482	Human		name
152071509	CV1633789	single nucleotide variant	NM_002335.4(LRP5):c.2517C>T (p.Val839=)	not provided [RCV002191843]	likely benign	11	68413702	68413702	Human		name
152128545	CV1637322	single nucleotide variant	NM_002335.4(LRP5):c.1239C>G (p.Thr413=)	not provided [RCV002217748]	likely benign	11	68386539	68386539	Human		name
152138912	CV1637924	single nucleotide variant	NM_002335.4(LRP5):c.2793C>T (p.His931=)	not provided [RCV002177789]	likely benign	11	68413978	68413978	Human		name
152098175	CV1639819	single nucleotide variant	NM_002335.4(LRP5):c.2412C>T (p.Gly804=)	not provided [RCV002078632]	likely benign	11	68411529	68411529	Human		name
152168156	CV1645070	single nucleotide variant	NM_002335.4(LRP5):c.2688C>T (p.His896=)	Bone mineral density quantitative trait locus 1 [RCV002508030]\|not provided [RCV002142345]	likely benign	11	68413873	68413873	Human	8	name
152081498	CV1645097	single nucleotide variant	NM_002335.4(LRP5):c.1212G>T (p.Gly404=)	not provided [RCV002149371]	likely benign	11	68386512	68386512	Human		name
152075397	CV1652968	single nucleotide variant	NM_002335.4(LRP5):c.2454C>G (p.Leu818=)	not provided [RCV002148629]	likely benign	11	68411571	68411571	Human		name
152125356	CV1665789	single nucleotide variant	NM_002335.4(LRP5):c.2484C>T (p.Ile828=)	not provided [RCV002198602]	likely benign	11	68411601	68411601	Human		name
152034531	CV1666082	single nucleotide variant	NM_002335.4(LRP5):c.2799C>T (p.Thr933=)	not provided [RCV002106763]	likely benign	11	68413984	68413984	Human		name
153347070	CV1694401	single nucleotide variant	NM_002335.4(LRP5):c.209T>A (p.Phe70Tyr)	Osteogenesis imperfecta [RCV002277798]	pathogenic	11	68347964	68347964	Human	1	name
153347072	CV1694402	single nucleotide variant	NM_002335.4(LRP5):c.210C>A (p.Phe70Leu)	Osteogenesis imperfecta [RCV002277799]	pathogenic	11	68347965	68347965	Human	1	name
156413923	CV1901869	single nucleotide variant	NM_002335.4(LRP5):c.1491G>A (p.Leu497=)	not provided [RCV003073501]	likely benign	11	68389959	68389959	Human		name
156344058	CV1907557	single nucleotide variant	NM_002335.4(LRP5):c.145G>A (p.Gly49Ser)	not provided [RCV003090532]	uncertain significance	11	68347900	68347900	Human		name
10047648	CV190802	single nucleotide variant	NM_002335.4(LRP5):c.2220C>T (p.Asn740=)	Bone mineral density quantitative trait locus 1 [RCV000006666]\|Increased bone mineral density [RCV002277338]\|Osteogenesis imperfecta [RCV002277337]\|not provided [RCV000712233]\|not specified [RCV000173754]	affects\|benign	11	68410042	68410042	Human	4	name
10047648	CV190802	single nucleotide variant	NM_002335.4(LRP5):c.2220C>T (p.Asn740=)	Bone mineral density quantitative trait locus 1 [RCV000006666]\|Increased bone mineral density [RCV002277338]\|Osteogenesis imperfecta [RCV002277337]\|not provided [RCV000712233]\|not specified [RCV000173754]	affects\|benign	11	68410042	68410043	Human	4	name
10047649	CV190803	single nucleotide variant	NM_002335.4(LRP5):c.2295G>A (p.Ser765=)	not provided [RCV000894562]\|not specified [RCV000173755]	benign\|likely benign	11	68410117	68410117	Human		name
10049694	CV190804	single nucleotide variant	NM_002335.4(LRP5):c.2193C>T (p.Asn731=)	Bone mineral density quantitative trait locus 1 [RCV002500460]\|Osteogenesis imperfecta [RCV002277339]\|not provided [RCV000954642]\|not specified [RCV000173756]	benign\|likely benign\|uncertain significance	11	68410015	68410015	Human	9	name
156021664	CV1911546	single nucleotide variant	NM_002335.4(LRP5):c.1158T>C (p.Tyr386=)	not provided [RCV002636737]	likely benign	11	68386458	68386458	Human		name
10047774	CV191210	single nucleotide variant	NM_002335.4(LRP5):c.2529C>T (p.Asp843=)	Bone mineral density quantitative trait locus 1 [RCV002492733]\|not provided [RCV000967218]\|not specified [RCV000174310]	benign\|likely benign	11	68413714	68413714	Human	8	name
10050701	CV192327	single nucleotide variant	NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)	Osteogenesis imperfecta [RCV002277365]\|not provided [RCV001512959]\|not specified [RCV000175719]	benign	11	68348021	68348021	Human	1	name
10050702	CV192328	single nucleotide variant	NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)	not provided [RCV000175720]	conflicting interpretations of pathogenicity\|uncertain significance	11	68348018	68348018	Human		name
10050703	CV192329	single nucleotide variant	NM_002335.4(LRP5):c.295G>A (p.Val99Met)	Bone mineral density quantitative trait locus 1 [RCV002492749]\|not provided [RCV000175721]	uncertain significance	11	68348050	68348050	Human	8	name
156410759	CV1929083	single nucleotide variant	NM_002335.4(LRP5):c.2439C>T (p.Tyr813=)	not provided [RCV002607970]	likely benign	11	68411556	68411556	Human		name
156445266	CV1945266	single nucleotide variant	NM_002335.4(LRP5):c.1737C>T (p.Asp579=)	not provided [RCV003116206]	likely benign	11	68403635	68403635	Human		name
10049244	CV196236	single nucleotide variant	NM_002335.4(LRP5):c.1968C>T (p.His656=)	Bone mineral density quantitative trait locus 1 [RCV002503699]\|not provided [RCV000962196]\|not specified [RCV000180584]	benign\|likely benign	11	68406690	68406690	Human	8	name
156417536	CV1967016	single nucleotide variant	NM_002335.4(LRP5):c.131G>A (p.Arg44Gln)	Inborn genetic diseases [RCV004641982]\|not provided [RCV002590241]	uncertain significance	11	68347886	68347886	Human	1	name
156252293	CV1967261	single nucleotide variant	NM_002335.4(LRP5):c.2430C>T (p.Thr810=)	not provided [RCV002597509]	likely benign	11	68411547	68411547	Human		name
155906408	CV1972160	single nucleotide variant	NM_002335.4(LRP5):c.1401C>T (p.His467=)	LRP5-related disorder [RCV004744390]\|not provided [RCV002613700]	likely benign	11	68386701	68386701	Human		name , alternate_id
156255997	CV1981864	single nucleotide variant	NM_002335.4(LRP5):c.2289G>A (p.Pro763=)	not provided [RCV002646053]	likely benign	11	68410111	68410111	Human		name
156414725	CV1982960	single nucleotide variant	NM_002335.4(LRP5):c.2352G>A (p.Pro784=)	LRP5-related disorder [RCV004744392]\|not provided [RCV002609335]	likely benign	11	68411469	68411469	Human		name , alternate_id
156393375	CV1983401	single nucleotide variant	NM_002335.4(LRP5):c.2421C>T (p.Asn807=)	not provided [RCV002604887]	likely benign	11	68411538	68411538	Human		name
155923242	CV1991459	single nucleotide variant	NM_002335.4(LRP5):c.1635C>T (p.Leu545=)	not provided [RCV002614652]	likely benign	11	68403533	68403533	Human		name
156212308	CV1997182	single nucleotide variant	NM_002335.4(LRP5):c.2538G>A (p.Pro846=)	not provided [RCV002666890]	likely benign	11	68413723	68413723	Human		name
156304650	CV1999759	single nucleotide variant	NM_002335.4(LRP5):c.2343C>T (p.Gly781=)	not provided [RCV002671323]	likely benign	11	68411460	68411460	Human		name
156283931	CV2012642	single nucleotide variant	NM_002335.4(LRP5):c.162G>C (p.Glu54Asp)	not provided [RCV002715391]	uncertain significance	11	68347917	68347917	Human		name
155909440	CV2017539	single nucleotide variant	NM_002335.4(LRP5):c.1695C>T (p.Arg565=)	not provided [RCV002681606]	likely benign	11	68403593	68403593	Human		name
156309151	CV2031421	single nucleotide variant	NM_002335.4(LRP5):c.1515C>G (p.Pro505=)	not provided [RCV002716429]	likely benign	11	68389983	68389983	Human		name
156209979	CV2042520	single nucleotide variant	NM_002335.4(LRP5):c.2943C>T (p.Ala981=)	not provided [RCV002766558]	likely benign	11	68416443	68416443	Human		name
155926263	CV2045240	single nucleotide variant	NM_002335.4(LRP5):c.1656G>A (p.Thr552=)	not provided [RCV002750944]	likely benign	11	68403554	68403554	Human		name
156120893	CV2052307	single nucleotide variant	NM_002335.4(LRP5):c.2361G>C (p.Val787=)	not provided [RCV002825293]	likely benign	11	68411478	68411478	Human		name
156010883	CV2075577	single nucleotide variant	NM_002335.4(LRP5):c.2742G>A (p.Gly914=)	not provided [RCV002843866]	likely benign	11	68413927	68413927	Human		name
156332699	CV2075998	single nucleotide variant	NM_002335.4(LRP5):c.1860C>T (p.Pro620=)	not provided [RCV002835387]	likely benign	11	68406582	68406582	Human		name
155967481	CV2076992	single nucleotide variant	NM_002335.4(LRP5):c.2634C>T (p.Asn878=)	not provided [RCV002863150]	likely benign	11	68413819	68413819	Human		name
155959132	CV2078590	single nucleotide variant	NM_002335.4(LRP5):c.1824G>A (p.Arg608=)	not provided [RCV002880932]	likely benign	11	68406546	68406546	Human		name
156215412	CV2084430	single nucleotide variant	NM_002335.4(LRP5):c.1659G>T (p.Leu553=)	not provided [RCV002852996]	likely benign	11	68403557	68403557	Human		name
156107580	CV2089313	single nucleotide variant	NM_002335.4(LRP5):c.1161C>T (p.Val387=)	Bone mineral density quantitative trait locus 1 [RCV005050647]\|not provided [RCV002848318]	likely benign\|uncertain significance	11	68386461	68386461	Human	5	name
156319855	CV2090585	single nucleotide variant	NM_002335.4(LRP5):c.1830G>A (p.Gly610=)	not provided [RCV002899216]	likely benign	11	68406552	68406552	Human		name
156233273	CV2118287	single nucleotide variant	NM_002335.4(LRP5):c.1110C>T (p.Asp370=)	not provided [RCV002958592]	likely benign	11	68386410	68386410	Human		name
156145357	CV2122747	single nucleotide variant	NM_002335.4(LRP5):c.1311G>A (p.Thr437=)	not provided [RCV002954378]	likely benign	11	68386611	68386611	Human		name
156281651	CV2133848	single nucleotide variant	NM_002335.4(LRP5):c.2577C>T (p.Tyr859=)	not provided [RCV003009622]	likely benign	11	68413762	68413762	Human		name
155993214	CV2145589	single nucleotide variant	NM_002335.4(LRP5):c.1812G>A (p.Pro604=)	not provided [RCV002996664]	likely benign	11	68406534	68406534	Human		name
155901725	CV2151576	single nucleotide variant	NM_002335.4(LRP5):c.2538G>T (p.Pro846=)	not provided [RCV003011673]	likely benign	11	68413723	68413723	Human		name
156200983	CV2153931	single nucleotide variant	NM_002335.4(LRP5):c.1041C>T (p.Ala347=)	not provided [RCV003006323]	likely benign	11	68386341	68386341	Human		name
156047055	CV2154039	deletion	NM_002335.4(LRP5):c.935del (p.Leu312fs)	not provided [RCV003019269]	pathogenic	11	68365622	68365622	Human		name
156091244	CV2155673	single nucleotide variant	NM_002335.4(LRP5):c.167C>T (p.Thr56Ile)	Bone mineral density quantitative trait locus 1 [RCV005050689]\|not provided [RCV003020692]	uncertain significance	11	68347922	68347922	Human	5	name
156179651	CV2162568	single nucleotide variant	NM_002335.4(LRP5):c.172G>A (p.Val58Met)	not provided [RCV003023786]	uncertain significance	11	68347927	68347927	Human		name
156356569	CV2165986	single nucleotide variant	NM_002335.4(LRP5):c.1566C>G (p.Ala522=)	not provided [RCV003031275]	likely benign	11	68390034	68390034	Human		name
156178202	CV2166478	single nucleotide variant	NM_002335.4(LRP5):c.1383C>T (p.Pro461=)	not provided [RCV003023743]	likely benign	11	68386683	68386683	Human		name
155997995	CV2167855	deletion	NM_002335.4(LRP5):c.322del (p.Val108fs)	not provided [RCV003034637]	pathogenic	11	68348076	68348076	Human		name
156223189	CV2168476	single nucleotide variant	NM_002335.4(LRP5):c.1779T>C (p.Ala593=)	not provided [RCV003042803]	likely benign	11	68403677	68403677	Human		name
11345592	CV238050	single nucleotide variant	NM_002335.4(LRP5):c.121C>T (p.Arg41Trp)	Retinal dystrophy [RCV000225661]\|not provided [RCV001227163]	uncertain significance	11	68347876	68347876	Human	2	name
329400953	CV2445916	single nucleotide variant	NM_002335.4(LRP5):c.140A>G (p.Asp47Gly)	Inborn genetic diseases [RCV003197956]	uncertain significance	11	68347895	68347895	Human	1	name
11552152	CV254279	single nucleotide variant	NM_002335.4(LRP5):c.1647T>C (p.Phe549=)	not provided [RCV001522775]\|not specified [RCV000253993]	benign	11	68403545	68403545	Human		name
11546254	CV254280	single nucleotide variant	NM_002335.4(LRP5):c.1932G>A (p.Glu644=)	not provided [RCV001522776]\|not specified [RCV000246217]	benign	11	68406654	68406654	Human		name
11635902	CV267227	single nucleotide variant	NM_002335.4(LRP5):c.1818G>A (p.Ala606=)	not provided [RCV000259410]	conflicting interpretations of pathogenicity\|uncertain significance	11	68406540	68406540	Human		name
11643931	CV268770	single nucleotide variant	NM_002335.4(LRP5):c.1392C>T (p.Ile464=)	Bone mineral density quantitative trait locus 1 [RCV002494841]\|LRP5-related disorder [RCV004742358]\|Osteogenesis imperfecta [RCV002278287]\|not provided [RCV000912047]\|not specified [RCV000403329]	benign\|likely benign	11	68386692	68386692	Human	9	name , alternate_id
11636143	CV271574	single nucleotide variant	NM_002335.4(LRP5):c.2124G>A (p.Ser708=)	LRP5-related disorder [RCV003909998]\|Osteogenesis imperfecta [RCV002278304]\|not provided [RCV000263817]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68409946	68409946	Human	1	name , alternate_id
11637829	CV272451	single nucleotide variant	NM_002335.4(LRP5):c.2463C>T (p.Thr821=)	not provided [RCV000292871]	conflicting interpretations of pathogenicity\|uncertain significance	11	68411580	68411580	Human		name
405866910	CV2842425	single nucleotide variant	NM_002335.4(LRP5):c.2085C>T (p.Ser695=)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557782]	likely benign	11	68406807	68406807	Human		name
404986481	CV2852364	single nucleotide variant	NM_002335.4(LRP5):c.169A>G (p.Ile57Val)	not specified [RCV003489603]	uncertain significance	11	68347924	68347924	Human		name
402493037	CV2863295	deletion	NM_002335.4(LRP5):c.964del (p.Ala322fs)	not provided [RCV003573183]	pathogenic	11	68365651	68365651	Human		name
402480887	CV2864104	single nucleotide variant	NM_002335.4(LRP5):c.1542G>A (p.Glu514=)	not provided [RCV003544013]	likely benign	11	68390010	68390010	Human		name
405093880	CV2874611	single nucleotide variant	NM_002335.4(LRP5):c.180C>A (p.Ser60Arg)	not provided [RCV003550101]	uncertain significance	11	68347935	68347935	Human		name
405070873	CV2876512	single nucleotide variant	NM_002335.4(LRP5):c.229G>A (p.Val77Met)	Bone mineral density quantitative trait locus 1 [RCV005051326]\|not provided [RCV003548524]	uncertain significance	11	68347984	68347984	Human	5	name
405199996	CV2877095	single nucleotide variant	NM_002335.4(LRP5):c.1131C>A (p.Ala377=)	not provided [RCV003551292]	likely benign	11	68386431	68386431	Human		name
405203401	CV2915220	single nucleotide variant	NM_002335.4(LRP5):c.2130G>A (p.Glu710=)	not provided [RCV003566193]	likely benign	11	68409952	68409952	Human		name
402474714	CV2915919	single nucleotide variant	NM_002335.4(LRP5):c.1662G>A (p.Leu554=)	not provided [RCV003571227]	likely benign	11	68403560	68403560	Human		name
405089713	CV2943454	single nucleotide variant	NM_002335.4(LRP5):c.272A>G (p.Tyr91Cys)	not provided [RCV003665138]	uncertain significance	11	68348027	68348027	Human		name
405092090	CV2947017	single nucleotide variant	NM_002335.4(LRP5):c.1311G>C (p.Thr437=)	not provided [RCV003665354]	likely benign	11	68386611	68386611	Human		name
405151797	CV2950439	single nucleotide variant	NM_002335.4(LRP5):c.1323G>A (p.Glu441=)	not provided [RCV003670109]	likely benign	11	68386623	68386623	Human		name
405230486	CV2964379	single nucleotide variant	NM_002335.4(LRP5):c.2799C>G (p.Thr933=)	not provided [RCV003682168]	likely benign	11	68413984	68413984	Human		name
405218259	CV2968671	single nucleotide variant	NM_002335.4(LRP5):c.2268G>T (p.Val756=)	not provided [RCV003680310]	likely benign	11	68410090	68410090	Human		name
405233596	CV2981835	deletion	NM_002335.4(LRP5):c.434del (p.Leu145fs)	not provided [RCV003711924]	pathogenic	11	68348189	68348189	Human		name
402488303	CV2987688	single nucleotide variant	NM_002335.4(LRP5):c.1479G>A (p.Glu493=)	not provided [RCV003713520]	likely benign	11	68389947	68389947	Human		name
405231174	CV2988323	single nucleotide variant	NM_002335.4(LRP5):c.1870C>A (p.Arg624=)	not provided [RCV003711548]	uncertain significance	11	68406592	68406592	Human		name
402512103	CV2991228	single nucleotide variant	NM_002335.4(LRP5):c.2610G>T (p.Arg870=)	not provided [RCV003689640]	likely benign	11	68413795	68413795	Human		name
405037985	CV3016926	single nucleotide variant	NM_002335.4(LRP5):c.2922T>C (p.His974=)	not provided [RCV003696045]	likely benign	11	68416422	68416422	Human		name
405043879	CV3074294	single nucleotide variant	NM_002335.4(LRP5):c.2677C>T (p.Leu893=)	not provided [RCV003740121]	likely benign	11	68413862	68413862	Human		name
405207823	CV3117082	single nucleotide variant	NM_002335.4(LRP5):c.2730C>T (p.Asn910=)	not provided [RCV003822869]	likely benign	11	68413915	68413915	Human		name
404979284	CV3127791	single nucleotide variant	NM_002335.4(LRP5):c.2772C>T (p.His924=)	not provided [RCV003825823]	likely benign	11	68413957	68413957	Human		name
404987212	CV3135529	single nucleotide variant	NM_002335.4(LRP5):c.2784C>T (p.Cys928=)	LRP5-related disorder [RCV003929363]\|not provided [RCV003826824]	likely benign	11	68413969	68413969	Human		name , alternate_id
405217367	CV3139506	single nucleotide variant	NM_002335.4(LRP5):c.292G>A (p.Ala98Thr)	Bone mineral density quantitative trait locus 1 [RCV005051395]\|not provided [RCV003824197]	uncertain significance	11	68348047	68348047	Human	5	name
405200890	CV3143493	single nucleotide variant	NM_002335.4(LRP5):c.187G>A (p.Glu63Lys)	not provided [RCV003844479]	uncertain significance	11	68347942	68347942	Human		name
405073498	CV3145499	single nucleotide variant	NM_002335.4(LRP5):c.1000A>C (p.Arg334=)	not provided [RCV003851084]	likely benign	11	68365687	68365687	Human		name
405177827	CV3147024	single nucleotide variant	NM_002335.4(LRP5):c.2796C>T (p.Tyr932=)	not provided [RCV003842120]	likely benign	11	68413981	68413981	Human		name
405188259	CV3149247	single nucleotide variant	NM_002335.4(LRP5):c.244G>A (p.Val82Met)	not provided [RCV003843173]	uncertain significance	11	68347999	68347999	Human		name
405188045	CV3156477	single nucleotide variant	NM_002335.4(LRP5):c.2379G>A (p.Gly793=)	not provided [RCV003859355]	likely benign	11	68411496	68411496	Human		name
405162900	CV3160031	single nucleotide variant	NM_002335.4(LRP5):c.2892G>A (p.Gln964=)	not provided [RCV003857102]	likely benign	11	68416392	68416392	Human		name
405129826	CV3163376	single nucleotide variant	NM_002335.4(LRP5):c.194C>T (p.Ala65Val)	not provided [RCV003854557]	uncertain significance	11	68347949	68347949	Human		name
596941875	CV3408349	single nucleotide variant	NM_002335.4(LRP5):c.1428A>C (p.Thr476=)	Retinal dystrophy [RCV004816020]	uncertain significance	11	68389896	68389896	Human	2	name
407428676	CV3410348	single nucleotide variant	NM_002335.4(LRP5):c.1881C>T (p.Cys627=)	not specified [RCV004587955]	likely benign	11	68406603	68406603	Human		name
408379264	CV3506813	single nucleotide variant	NM_002335.4(LRP5):c.1887C>A (p.Ile629=)	LRP5-related disorder [RCV004728339]	uncertain significance	11	68406609	68406609	Human		name , trait , alternate_id
12743222	CV361380	deletion	NM_002335.4(LRP5):c.480del (p.Ala161fs)	not provided [RCV000416185]	likely pathogenic	11	68348232	68348232	Human		name
12791965	CV362379	single nucleotide variant	NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)	Osteoporosis with pseudoglioma [RCV000417043]	likely pathogenic	11	68347960	68347960	Human	1	name
597732910	CV3706777	single nucleotide variant	NM_002335.4(LRP5):c.151G>A (p.Val51Ile)	Bone mineral density quantitative trait locus 1 [RCV005051122]	uncertain significance	11	68347906	68347906	Human	5	name
597732923	CV3706778	single nucleotide variant	NM_002335.4(LRP5):c.212A>G (p.Gln71Arg)	Bone mineral density quantitative trait locus 1 [RCV005051123]	uncertain significance	11	68347967	68347967	Human	5	name
597732937	CV3706779	single nucleotide variant	NM_002335.4(LRP5):c.249C>A (p.Ser83Arg)	Bone mineral density quantitative trait locus 1 [RCV005051124]	uncertain significance	11	68348004	68348004	Human	5	name
597733088	CV3706792	single nucleotide variant	NM_002335.4(LRP5):c.1050G>A (p.Thr350=)	Bone mineral density quantitative trait locus 1 [RCV005051136]\|not provided [RCV005063359]	likely benign\|uncertain significance	11	68386350	68386350	Human	5	name
12837851	CV371641	single nucleotide variant	NM_002335.4(LRP5):c.2445C>T (p.Asp815=)	LRP5-related disorder [RCV003970202]\|not provided [RCV000897519]\|not specified [RCV000425884]	benign\|likely benign	11	68411562	68411562	Human		name , alternate_id
12844558	CV372366	single nucleotide variant	NM_002335.4(LRP5):c.2766C>T (p.Gly922=)	Bone mineral density quantitative trait locus 1 [RCV002488939]\|not provided [RCV002059684]\|not specified [RCV000438205]	likely benign	11	68413951	68413951	Human	8	name
12844539	CV374258	single nucleotide variant	NM_002335.4(LRP5):c.2139G>A (p.Val713=)	Bone mineral density quantitative trait locus 1 [RCV002502519]\|not provided [RCV000885479]\|not specified [RCV001726170]	benign\|likely benign	11	68409961	68409961	Human	8	name
597894717	CV3744112	single nucleotide variant	NM_002335.4(LRP5):c.2910C>T (p.Ile970=)	not provided [RCV005071582]	likely benign	11	68416410	68416410	Human		name
597970186	CV3750166	single nucleotide variant	NM_002335.4(LRP5):c.1005G>C (p.Thr335=)	not provided [RCV005084107]	likely benign	11	68365692	68365692	Human		name
597970609	CV3750303	single nucleotide variant	NM_002335.4(LRP5):c.2847G>A (p.Leu949=)	not provided [RCV005084244]	likely benign	11	68416347	68416347	Human		name
597968449	CV3761087	single nucleotide variant	NM_002335.4(LRP5):c.2643C>T (p.Leu881=)	not provided [RCV005083474]	likely benign	11	68413828	68413828	Human		name
597864822	CV3767104	single nucleotide variant	NM_002335.4(LRP5):c.181G>C (p.Gly61Arg)	not provided [RCV005106626]	uncertain significance	11	68347936	68347936	Human		name
597864831	CV3767105	single nucleotide variant	NM_002335.4(LRP5):c.203T>G (p.Val68Gly)	not provided [RCV005106627]	uncertain significance	11	68347958	68347958	Human		name
597864840	CV3767106	single nucleotide variant	NM_002335.4(LRP5):c.272A>C (p.Tyr91Ser)	not provided [RCV005106628]	uncertain significance	11	68348027	68348027	Human		name
597923462	CV3777865	single nucleotide variant	NM_002335.4(LRP5):c.1755G>T (p.Leu585=)	not provided [RCV005130589]	likely benign	11	68403653	68403653	Human		name
597938101	CV3788000	single nucleotide variant	NM_002335.4(LRP5):c.1521C>T (p.Gly507=)	not provided [RCV005132879]	likely benign	11	68389989	68389989	Human		name
597968542	CV3795047	single nucleotide variant	NM_002335.4(LRP5):c.1656G>C (p.Thr552=)	not provided [RCV005141015]	likely benign	11	68403554	68403554	Human		name
597916946	CV3811085	single nucleotide variant	NM_002335.4(LRP5):c.2043C>T (p.Asp681=)	not provided [RCV005155120]	likely benign	11	68406765	68406765	Human		name
597876470	CV3813229	single nucleotide variant	NM_002335.4(LRP5):c.1068G>A (p.Ser356=)	not provided [RCV005149165]	likely benign	11	68386368	68386368	Human		name
597958513	CV3814884	single nucleotide variant	NM_002335.4(LRP5):c.2526C>G (p.Ala842=)	not provided [RCV005163009]	likely benign	11	68413711	68413711	Human		name
597956394	CV3817960	single nucleotide variant	NM_002335.4(LRP5):c.2118G>C (p.Gly706=)	not provided [RCV005162411]	likely benign	11	68409940	68409940	Human		name
597948924	CV3818439	single nucleotide variant	NM_002335.4(LRP5):c.2613C>G (p.Ala871=)	not provided [RCV005160700]	likely benign	11	68413798	68413798	Human		name
597860282	CV3826020	single nucleotide variant	NM_002335.4(LRP5):c.2901G>A (p.Pro967=)	not provided [RCV005174918]	likely benign	11	68416401	68416401	Human		name
597879699	CV3826290	single nucleotide variant	NM_002335.4(LRP5):c.1704C>T (p.Ile568=)	not provided [RCV005177986]	likely benign	11	68403602	68403602	Human		name
13518369	CV489674	single nucleotide variant	NM_002335.4(LRP5):c.1395A>C (p.Ala465=)	Bone mineral density quantitative trait locus 1 [RCV002483591]\|not provided [RCV001523029]\|not specified [RCV000597329]	benign\|likely benign	11	68386695	68386695	Human	8	name
13515296	CV490874	single nucleotide variant	NM_002335.4(LRP5):c.283A>C (p.Thr95Pro)	Bone mineral density quantitative trait locus 1 [RCV005049612]\|not provided [RCV000594100]	uncertain significance	11	68348038	68348038	Human	5	name
13611502	CV514630	duplication	NM_002335.4(LRP5):c.840dup (p.Pro281fs)	not provided [RCV000627524]	pathogenic	11	68363899	68363900	Human		name
13833145	CV584373	single nucleotide variant	NM_002335.4(LRP5):c.1299C>T (p.Thr433=)	LRP5-related disorder [RCV004742606]\|not provided [RCV000728311]\|not specified [RCV005240510]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68386599	68386599	Human		name , alternate_id
13836894	CV588177	single nucleotide variant	NM_002335.4(LRP5):c.1032G>C (p.Leu344=)	LRP5-related disorder [RCV003947950]\|not provided [RCV000733139]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68386332	68386332	Human		name , alternate_id
13837505	CV588795	single nucleotide variant	NM_002335.4(LRP5):c.1002G>A (p.Arg334=)	not provided [RCV000733945]	conflicting interpretations of pathogenicity\|uncertain significance	11	68365689	68365689	Human		name
13837507	CV588797	single nucleotide variant	NM_002335.4(LRP5):c.2241G>A (p.Leu747=)	not provided [RCV000733951]	conflicting interpretations of pathogenicity\|uncertain significance	11	68410063	68410063	Human		name
14702516	CV626210	single nucleotide variant	NM_002335.4(LRP5):c.199G>A (p.Ala67Thr)	not provided [RCV001365218]\|not specified [RCV000790974]	likely pathogenic\|uncertain significance	11	68347954	68347954	Human		name
15177622	CV713107	single nucleotide variant	NM_002335.4(LRP5):c.2133C>T (p.His711=)	not provided [RCV000973473]	benign	11	68409955	68409955	Human		name
15160345	CV724678	single nucleotide variant	NM_002335.4(LRP5):c.1365G>A (p.Ser455=)	not provided [RCV000881365]	benign	11	68386665	68386665	Human		name
15180547	CV724679	single nucleotide variant	NM_002335.4(LRP5):c.1377C>T (p.Asp459=)	LRP5-related disorder [RCV003955910]\|not provided [RCV000885554]	likely benign	11	68386677	68386677	Human		name , alternate_id
15148985	CV724680	single nucleotide variant	NM_002335.4(LRP5):c.2544G>A (p.Pro848=)	Bone mineral density quantitative trait locus 1 [RCV002487926]\|LRP5-related disorder [RCV003938406]\|not provided [RCV000879067]	benign\|likely benign	11	68413729	68413729	Human	8	name , alternate_id
15138798	CV738230	single nucleotide variant	NM_002335.4(LRP5):c.290C>T (p.Ala97Val)	not provided [RCV000899044]	likely benign	11	68348045	68348045	Human		name
15187420	CV738233	single nucleotide variant	NM_002335.4(LRP5):c.1248C>T (p.Asn416=)	Bone mineral density quantitative trait locus 1 [RCV002495490]\|not provided [RCV000909085]	likely benign	11	68386548	68386548	Human	8	name
15138525	CV738234	single nucleotide variant	NM_002335.4(LRP5):c.2076A>G (p.Thr692=)	not provided [RCV000898997]	likely benign	11	68406798	68406798	Human		name
15128310	CV738235	single nucleotide variant	NM_002335.4(LRP5):c.2226C>T (p.Ile742=)	Bone mineral density quantitative trait locus 1 [RCV002495432]\|not provided [RCV000897250]	likely benign	11	68410048	68410048	Human	8	name
15129255	CV738236	single nucleotide variant	NM_002335.4(LRP5):c.2265C>T (p.Leu755=)	Bone mineral density quantitative trait locus 1 [RCV002502629]\|not provided [RCV000897410]	likely benign	11	68410087	68410087	Human	8	name
15156270	CV738237	single nucleotide variant	NM_002335.4(LRP5):c.2595G>T (p.Leu865=)	not provided [RCV000902300]	likely benign	11	68413780	68413780	Human		name
15197696	CV752900	single nucleotide variant	NM_002335.4(LRP5):c.1077G>A (p.Thr359=)	Bone mineral density quantitative trait locus 1 [RCV002502742]\|LRP5-related disorder [RCV003913027]\|Osteogenesis imperfecta [RCV002279628]\|not provided [RCV000912046]	benign\|likely benign	11	68386377	68386377	Human	9	name , alternate_id
15156465	CV752901	single nucleotide variant	NM_002335.4(LRP5):c.1176C>T (p.Asp392=)	not provided [RCV000924676]	likely benign	11	68386476	68386476	Human		name
15130170	CV752902	single nucleotide variant	NM_002335.4(LRP5):c.1221G>A (p.Ala407=)	Bone mineral density quantitative trait locus 1 [RCV002479069]\|Osteogenesis imperfecta [RCV002279639]\|not provided [RCV000919960]	benign\|likely benign	11	68386521	68386521	Human	9	name
15120369	CV752903	single nucleotide variant	NM_002335.4(LRP5):c.1236C>T (p.Asn412=)	not provided [RCV000918310]	likely benign	11	68386536	68386536	Human		name
15200496	CV752904	single nucleotide variant	NM_002335.4(LRP5):c.1338C>T (p.Asn446=)	not provided [RCV000912863]	likely benign	11	68386638	68386638	Human		name
15140783	CV752905	single nucleotide variant	NM_002335.4(LRP5):c.1605G>A (p.Thr535=)	Bone mineral density quantitative trait locus 1 [RCV002495540]\|not provided [RCV000921733]	likely benign	11	68403503	68403503	Human	8	name
15145824	CV752906	single nucleotide variant	NM_002335.4(LRP5):c.1707G>A (p.Glu569=)	Bone mineral density quantitative trait locus 1 [RCV002502802]\|LRP5-related disorder [RCV003978043]\|not provided [RCV000922611]	likely benign	11	68403605	68403605	Human	8	name , alternate_id
15166393	CV752907	single nucleotide variant	NM_002335.4(LRP5):c.1959C>T (p.Ala653=)	not provided [RCV000926858]	likely benign	11	68406681	68406681	Human		name
15107371	CV752908	single nucleotide variant	NM_002335.4(LRP5):c.2022C>T (p.Val674=)	Bone mineral density quantitative trait locus 1 [RCV002502767]\|LRP5-related disorder [RCV004743191]\|not provided [RCV000915942]	likely benign	11	68406744	68406744	Human	8	name , alternate_id
15148847	CV752909	single nucleotide variant	NM_002335.4(LRP5):c.2358C>T (p.Ile786=)	Bone mineral density quantitative trait locus 1 [RCV002502803]\|LRP5-related disorder [RCV004743201]\|not provided [RCV000923173]	likely benign	11	68411475	68411475	Human	8	name , alternate_id
15168371	CV752910	single nucleotide variant	NM_002335.4(LRP5):c.2467C>T (p.Leu823=)	not provided [RCV000927277]\|not specified [RCV001701254]	benign	11	68411584	68411584	Human		name
15153009	CV752911	single nucleotide variant	NM_002335.4(LRP5):c.2556G>A (p.Thr852=)	not provided [RCV000923981]	likely benign	11	68413741	68413741	Human		name
15155930	CV752912	single nucleotide variant	NM_002335.4(LRP5):c.2637C>T (p.Arg879=)	LRP5-related disorder [RCV003903042]\|not provided [RCV000924564]	benign\|likely benign	11	68413822	68413822	Human		name , alternate_id
15151799	CV752913	single nucleotide variant	NM_002335.4(LRP5):c.2964C>T (p.Asp988=)	not provided [RCV000923748]\|not specified [RCV004702524]	benign\|likely benign	11	68416464	68416464	Human		name
15120962	CV768702	single nucleotide variant	NM_002335.4(LRP5):c.1080G>A (p.Pro360=)	not provided [RCV000940433]	likely benign	11	68386380	68386380	Human		name
15100842	CV768703	single nucleotide variant	NM_002335.4(LRP5):c.1269C>T (p.Val423=)	not provided [RCV000936690]	likely benign	11	68386569	68386569	Human		name
15142225	CV768704	single nucleotide variant	NM_002335.4(LRP5):c.1518C>T (p.Asn506=)	LRP5-related disorder [RCV003970637]\|not provided [RCV000944040]	likely benign	11	68389986	68389986	Human		name , alternate_id
15187057	CV768705	single nucleotide variant	NM_002335.4(LRP5):c.1827C>T (p.Asn609=)	LRP5-related disorder [RCV003960486]\|not provided [RCV000931543]	likely benign	11	68406549	68406549	Human		name , alternate_id
15131653	CV784150	single nucleotide variant	NM_002335.4(LRP5):c.1134C>T (p.Ile378=)	Bone mineral density quantitative trait locus 1 [RCV002489446]\|not provided [RCV000981247]\|not specified [RCV001819686]	likely benign	11	68386434	68386434	Human	8	name
15127283	CV784151	single nucleotide variant	NM_002335.4(LRP5):c.1800C>T (p.Val600=)	Inborn genetic diseases [RCV004030034]\|not provided [RCV000980521]	benign\|likely benign	11	68403698	68403698	Human	1	name
15138243	CV784153	single nucleotide variant	NM_002335.4(LRP5):c.2175T>C (p.Val725=)	Bone mineral density quantitative trait locus 1 [RCV002489450]\|LRP5-related disorder [RCV003962953]\|not provided [RCV000982440]\|not specified [RCV005418942]	benign\|likely benign	11	68409997	68409997	Human	8	name , alternate_id
15124412	CV784154	single nucleotide variant	NM_002335.4(LRP5):c.2457C>T (p.Tyr819=)	not provided [RCV000980001]	likely benign	11	68411574	68411574	Human		name
15134853	CV784155	single nucleotide variant	NM_002335.4(LRP5):c.2814C>T (p.Ser938=)	not provided [RCV000981821]	likely benign	11	68413999	68413999	Human		name
8627113	CV82257	single nucleotide variant	NM_002335.4(LRP5):c.2946C>T (p.Ile982=)	not provided [RCV000911367]	likely benign\|not provided	11	68416446	68416446	Human		name
26913645	CV838872	single nucleotide variant	NM_002335.4(LRP5):c.213G>C (p.Gln71His)	not provided [RCV001036257]	uncertain significance	11	68347968	68347968	Human		name
26918259	CV838873	single nucleotide variant	NM_002335.4(LRP5):c.250G>A (p.Glu84Lys)	Exudative vitreoretinopathy 4 [RCV003229612]\|not provided [RCV001043314]	uncertain significance	11	68348005	68348005	Human	1	name
26885476	CV838888	single nucleotide variant	NM_002335.4(LRP5):c.1266G>A (p.Ala422=)	not provided [RCV001053609]	likely benign\|uncertain significance	11	68386566	68386566	Human		name
8634329	CV89549	single nucleotide variant	NM_002335.3(LRP5):c.1461C>T (p.Ala487=)	Malignant melanoma [RCV000069646]	not provided	11	68389929	68389929	Human		name
38479898	CV947615	single nucleotide variant	NM_002335.4(LRP5):c.116A>G (p.Asn39Ser)	Bone mineral density quantitative trait locus 1 [RCV005050301]\|not provided [RCV001234512]	uncertain significance	11	68347871	68347871	Human	5	name
38486874	CV947616	single nucleotide variant	NM_002335.4(LRP5):c.235T>C (p.Trp79Arg)	Bone mineral density quantitative trait locus 1 [RCV005050303]\|not provided [RCV001237344]	likely pathogenic\|uncertain significance	11	68347990	68347990	Human	5	name
126762051	CV994717	single nucleotide variant	NM_002335.4(LRP5):c.284C>T (p.Thr95Met)	Bone mineral density quantitative trait locus 1 [RCV005005157]\|Exudative vitreoretinopathy 4 [RCV003989674]\|not provided [RCV001309778]	uncertain significance	11	68348039	68348039	Human	5	name
126736903	CV1009907	single nucleotide variant	NM_002335.4(LRP5):c.557G>A (p.Arg186Gln)	Bone mineral density quantitative trait locus 1 [RCV005050326]\|not provided [RCV001313914]	uncertain significance	11	68357718	68357718	Human	5	name
126769046	CV1009908	single nucleotide variant	NM_002335.4(LRP5):c.872G>A (p.Arg291Gln)	Bone mineral density quantitative trait locus 1 [RCV005050330]\|not provided [RCV001321721]	uncertain significance	11	68363932	68363932	Human	5	name
126772987	CV1009909	single nucleotide variant	NM_002335.4(LRP5):c.945C>G (p.Ser315Arg)	not provided [RCV001324063]	uncertain significance	11	68365632	68365632	Human		name
126737076	CV1009926	single nucleotide variant	NM_002335.4(LRP5):c.3915C>T (p.Cys1305=)	not provided [RCV001313935]	likely benign\|uncertain significance	11	68433753	68433753	Human		name
126740165	CV1020931	deletion	NM_002335.4(LRP5):c.2783del (p.Cys928fs)	Exudative vitreoretinopathy 4 [RCV001335929]	pathogenic	11	68413968	68413968	Human		name
126725229	CV1030455	single nucleotide variant	NM_002335.4(LRP5):c.532C>T (p.Arg178Trp)	Bone mineral density quantitative trait locus 1 [RCV005050347]\|not provided [RCV001348086]	uncertain significance	11	68357693	68357693	Human	5	name
126774535	CV1030456	single nucleotide variant	NM_002335.4(LRP5):c.533G>A (p.Arg178Gln)	Bone mineral density quantitative trait locus 1 [RCV005005196]\|not provided [RCV001347339]	likely pathogenic\|uncertain significance	11	68357694	68357694	Human	5	name
126763470	CV1030457	single nucleotide variant	NM_002335.4(LRP5):c.661C>T (p.Arg221Cys)	not provided [RCV001341284]	uncertain significance	11	68357822	68357822	Human		name
126918209	CV1047447	single nucleotide variant	NM_002335.4(LRP5):c.580A>G (p.Ile194Val)	not provided [RCV001372525]	uncertain significance	11	68357741	68357741	Human		name
126924278	CV1047448	single nucleotide variant	NM_002335.4(LRP5):c.803G>A (p.Gly268Glu)	not provided [RCV001366849]	uncertain significance	11	68363863	68363863	Human		name
126908318	CV1052708	single nucleotide variant	NM_002335.4(LRP5):c.913G>A (p.Gly305Ser)	Bone mineral density quantitative trait locus 1 [RCV001374435]\|Inborn genetic diseases [RCV002550943]\|not provided [RCV003771211]	uncertain significance	11	68365600	68365600	Human	1	name
127265069	CV1062486	duplication	NM_002335.4(LRP5):c.2754dup (p.Ala919fs)	not provided [RCV001388348]	pathogenic	11	68413937	68413938	Human		name
127276157	CV1078726	single nucleotide variant	NM_002335.4(LRP5):c.4077C>T (p.Pro1359=)	Bone mineral density quantitative trait locus 1 [RCV002493962]\|LRP5-related disorder [RCV003938691]\|not provided [RCV001407068]	likely benign	11	68436965	68436965	Human	8	name , alternate_id
127268717	CV1078728	single nucleotide variant	NM_002335.4(LRP5):c.4419C>T (p.Tyr1473=)	LRP5-related disorder [RCV003900386]\|not provided [RCV001404451]	likely benign	11	68439847	68439847	Human		name , alternate_id
127263668	CV1100450	single nucleotide variant	NM_002335.4(LRP5):c.3216C>T (p.Ile1072=)	not provided [RCV001439353]	likely benign	11	68423677	68423677	Human		name
127262755	CV1100451	single nucleotide variant	NM_002335.4(LRP5):c.3279C>T (p.Ile1093=)	not provided [RCV001439110]	likely benign	11	68425144	68425144	Human		name
127237219	CV1100458	single nucleotide variant	NM_002335.4(LRP5):c.4194C>T (p.Phe1398=)	LRP5-related disorder [RCV003938753]\|not provided [RCV001433497]	likely benign	11	68438528	68438528	Human		name , alternate_id
127262757	CV1100459	single nucleotide variant	NM_002335.4(LRP5):c.4257C>T (p.Asn1419=)	not provided [RCV001428418]	likely benign	11	68438591	68438591	Human		name
127300777	CV1121919	single nucleotide variant	NM_002335.4(LRP5):c.3018C>T (p.Asp1006=)	Bone mineral density quantitative trait locus 1 [RCV002495644]\|not provided [RCV001453977]	likely benign	11	68416518	68416518	Human	8	name
127317175	CV1121920	single nucleotide variant	NM_002335.4(LRP5):c.3285C>T (p.Arg1095=)	Bone mineral density quantitative trait locus 1 [RCV002495678]\|not provided [RCV001465779]	likely benign	11	68425150	68425150	Human	8	name
127307688	CV1121921	single nucleotide variant	NM_002335.4(LRP5):c.3309C>T (p.Arg1103=)	not provided [RCV001455846]	likely benign	11	68425174	68425174	Human		name
127314940	CV1121922	single nucleotide variant	NM_002335.4(LRP5):c.3795A>G (p.Ala1265=)	not provided [RCV001465102]	likely benign	11	68433633	68433633	Human		name
127288353	CV1121923	single nucleotide variant	NM_002335.4(LRP5):c.3837C>T (p.Arg1279=)	Bone mineral density quantitative trait locus 1 [RCV002476768]\|LRP5-related disorder [RCV003938801]\|not provided [RCV001450449]	likely benign	11	68433675	68433675	Human	8	name , alternate_id
127306916	CV1121925	single nucleotide variant	NM_002335.4(LRP5):c.4128C>G (p.Pro1376=)	not provided [RCV001462883]	likely benign	11	68438462	68438462	Human		name
127302239	CV1121928	single nucleotide variant	NM_002335.4(LRP5):c.4455C>T (p.Ser1485=)	not provided [RCV001454401]	likely benign	11	68439883	68439883	Human		name
127335146	CV1121931	single nucleotide variant	NM_002335.4(LRP5):c.4782C>T (p.Pro1594=)	Bone mineral density quantitative trait locus 1 [RCV002501635]\|not provided [RCV001474041]	likely benign	11	68449004	68449004	Human	8	name
127321038	CV1142767	single nucleotide variant	NM_002335.4(LRP5):c.3138T>C (p.Asn1046=)	not provided [RCV001484418]	likely benign	11	68423599	68423599	Human		name
127335023	CV1142768	single nucleotide variant	NM_002335.4(LRP5):c.3147C>T (p.Asn1049=)	not provided [RCV001491237]	likely benign	11	68423608	68423608	Human		name
127312889	CV1142770	single nucleotide variant	NM_002335.4(LRP5):c.3219C>T (p.Val1073=)	not provided [RCV001502037]	likely benign	11	68423680	68423680	Human		name
127319957	CV1142771	single nucleotide variant	NM_002335.4(LRP5):c.3225C>T (p.Asn1075=)	not provided [RCV001484030]	likely benign	11	68423686	68423686	Human		name
127286406	CV1142773	single nucleotide variant	NM_002335.4(LRP5):c.3438C>T (p.Arg1146=)	not provided [RCV001494160]	likely benign	11	68425988	68425988	Human		name
127321556	CV1142774	single nucleotide variant	NM_002335.4(LRP5):c.3732C>T (p.Leu1244=)	not provided [RCV001504789]	likely benign	11	68429669	68429669	Human		name
127336184	CV1142775	single nucleotide variant	NM_002335.4(LRP5):c.3870C>T (p.Ser1290=)	Bone mineral density quantitative trait locus 1 [RCV002495741]\|not provided [RCV001492004]	likely benign	11	68433708	68433708	Human	8	name
127289404	CV1142776	single nucleotide variant	NM_002335.4(LRP5):c.4068C>T (p.Asp1356=)	Bone mineral density quantitative trait locus 1 [RCV002495751]\|not provided [RCV001495618]	likely benign	11	68436956	68436956	Human	8	name
127304001	CV1142778	single nucleotide variant	NM_002335.4(LRP5):c.4143G>A (p.Pro1381=)	Bone mineral density quantitative trait locus 1 [RCV002495757]\|not provided [RCV001499527]	likely benign	11	68438477	68438477	Human	8	name
127316103	CV1142782	single nucleotide variant	NM_002335.4(LRP5):c.4497C>T (p.Asn1499=)	not provided [RCV001502927]	likely benign	11	68446444	68446444	Human		name
127338243	CV1142783	single nucleotide variant	NM_002335.4(LRP5):c.4503G>A (p.Pro1501=)	not provided [RCV001493723]	likely benign	11	68446450	68446450	Human		name
127296139	CV1156817	single nucleotide variant	NM_002335.4(LRP5):c.4446G>C (p.Ser1482=)	Osteogenesis imperfecta [RCV002276751]\|not provided [RCV001512435]	benign\|likely benign	11	68439874	68439874	Human	1	name
10044974	CV188829	single nucleotide variant	NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)	Bone mineral density quantitative trait locus 1 [RCV005049456]\|not provided [RCV000171198]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	68357846	68357846	Human	5	name
10050489	CV192000	single nucleotide variant	NM_002335.4(LRP5):c.3990G>A (p.Ala1330=)	not provided [RCV000724886]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68433828	68433828	Human		name
10048067	CV192105	single nucleotide variant	NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)	Increased bone mineral density [RCV002277358]\|Osteogenesis imperfecta [RCV002277357]\|not provided [RCV000905001]\|not specified [RCV000175428]	benign\|likely benign	11	68436977	68436977	Human	3	name
10048236	CV192646	single nucleotide variant	NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)	Bone mineral density quantitative trait locus 1 [RCV002478573]\|not provided [RCV000906012]\|not specified [RCV000176061]	benign\|likely benign	11	68438612	68438612	Human	8	name
10052126	CV194366	single nucleotide variant	NM_002335.4(LRP5):c.713C>T (p.Thr238Met)	not provided [RCV000178178]	uncertain significance	11	68363773	68363773	Human		name
10401595	CV205270	single nucleotide variant	NM_002335.4(LRP5):c.500G>C (p.Trp167Ser)	Inborn genetic diseases [RCV000190810]	pathogenic	11	68357661	68357661	Human	1	name
11542804	CV254282	single nucleotide variant	NM_002335.4(LRP5):c.3297C>T (p.Asp1099=)	not provided [RCV001510433]\|not specified [RCV000241623]	benign	11	68425162	68425162	Human		name
11549105	CV254284	single nucleotide variant	NM_002335.4(LRP5):c.3858C>T (p.Cys1286=)	not provided [RCV001457188]\|not specified [RCV000249979]	likely benign	11	68433696	68433696	Human		name
11544663	CV254286	single nucleotide variant	NM_002335.4(LRP5):c.4788C>T (p.Thr1596=)	Osteogenesis imperfecta [RCV002278175]\|not provided [RCV000712235]\|not specified [RCV000244093]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	68449010	68449010	Human	1	name
11641452	CV265436	single nucleotide variant	NM_002335.4(LRP5):c.4458G>T (p.Ser1486=)	not provided [RCV000973474]\|not specified [RCV000356954]	benign	11	68439886	68439886	Human		name
11637250	CV270606	single nucleotide variant	NM_002335.4(LRP5):c.4359C>T (p.Cys1453=)	not provided [RCV000282722]	conflicting interpretations of pathogenicity\|uncertain significance	11	68439787	68439787	Human		name
11637119	CV271910	single nucleotide variant	NM_002335.4(LRP5):c.3153C>T (p.His1051=)	not provided [RCV000279278]	uncertain significance	11	68423614	68423614	Human		name
126751239	CV994718	single nucleotide variant	NM_002335.4(LRP5):c.323T>C (p.Val108Ala)	not provided [RCV001297477]	uncertain significance	11	68348078	68348078	Human		name
126743049	CV994719	single nucleotide variant	NM_002335.4(LRP5):c.392G>A (p.Arg131His)	Inborn genetic diseases [RCV004036360]\|not provided [RCV001305640]	uncertain significance	11	68348147	68348147	Human	1	name
126754507	CV994720	single nucleotide variant	NM_002335.4(LRP5):c.428A>C (p.Lys143Thr)	not provided [RCV001307648]	uncertain significance	11	68348183	68348183	Human		name
126758236	CV994721	single nucleotide variant	NM_002335.4(LRP5):c.803G>C (p.Gly268Ala)	Bone mineral density quantitative trait locus 1 [RCV005050322]\|not provided [RCV001299128]	uncertain significance	11	68363863	68363863	Human	5	name
126760760	CV994723	single nucleotide variant	NM_002335.4(LRP5):c.974C>T (p.Thr325Met)	not provided [RCV001309407]	uncertain significance	11	68365661	68365661	Human		name
126741351	CV994724	single nucleotide variant	NM_002335.4(LRP5):c.993C>A (p.Asp331Glu)	not provided [RCV001295894]	uncertain significance	11	68365680	68365680	Human		name
126759628	CV994749	single nucleotide variant	NM_002335.4(LRP5):c.4836G>A (p.Thr1612=)	not provided [RCV001309072]	likely benign\|uncertain significance	11	68449058	68449058	Human		name
126725889	CV1030466	single nucleotide variant	NM_002335.4(LRP5):c.2515G>A (p.Val839Ile)	Bone mineral density quantitative trait locus 1 [RCV005005198]\|LRP5-related disorder [RCV004743416]\|not provided [RCV001348293]	uncertain significance	11	68413700	68413700	Human	5	alternate_id
127277928	CV1100449	single nucleotide variant	NM_002335.4(LRP5):c.3198C>T (p.Arg1066=)	LRP5-related disorder [RCV003900528]\|not provided [RCV001444689]	likely benign	11	68423659	68423659	Human		alternate_id
127250286	CV1100457	single nucleotide variant	NM_002335.4(LRP5):c.4029T>C (p.Cys1343=)	LRP5-related disorder [RCV003965834]\|not provided [RCV001436301]	likely benign	11	68436917	68436917	Human		alternate_id
127305637	CV1121926	single nucleotide variant	NM_002335.4(LRP5):c.4297G>A (p.Val1433Met)	Bone mineral density quantitative trait locus 1 [RCV002501594]\|LRP5-related disorder [RCV003946189]\|not provided [RCV001455299]	likely benign	11	68438631	68438631	Human	8	alternate_id
127334795	CV1142785	single nucleotide variant	NM_002335.4(LRP5):c.4755G>A (p.Ser1585=)	LRP5-related disorder [RCV003921031]\|not provided [RCV001491113]	likely benign	11	68448977	68448977	Human		alternate_id
150330711	CV1168681	single nucleotide variant	NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)	Bone mineral density quantitative trait locus 1 [RCV001536018]\|Exudative vitreoretinopathy 4 [RCV004762156]\|LRP5-related disorder [RCV004743544]\|not provided [RCV001882600]	pathogenic\|likely pathogenic\|uncertain significance	11	68413740	68413740	Human	8	alternate_id
151845477	CV1359739	single nucleotide variant	NM_002335.4(LRP5):c.998G>A (p.Gly333Asp)	Inborn genetic diseases [RCV003269120]\|LRP5-related disorder [RCV004744220]\|not provided [RCV002032336]	uncertain significance	11	68365685	68365685	Human	1	alternate_id
151715002	CV1392556	single nucleotide variant	NM_002335.4(LRP5):c.556C>T (p.Arg186Trp)	Bone mineral density quantitative trait locus 1 [RCV002490212]\|Inborn genetic diseases [RCV004042557]\|LRP5-related disorder [RCV004743637]\|not provided [RCV001908792]	uncertain significance	11	68357717	68357717	Human	9	alternate_id
151875399	CV1486883	single nucleotide variant	NM_002335.4(LRP5):c.920C>T (p.Ser307Phe)	LRP5-related disorder [RCV003407933]\|not provided [RCV001907001]	uncertain significance	11	68365607	68365607	Human		alternate_id
151837592	CV1492298	single nucleotide variant	NM_002335.4(LRP5):c.3404G>A (p.Arg1135His)	Bone mineral density quantitative trait locus 1 [RCV002503368]\|LRP5-related disorder [RCV004743595]\|not provided [RCV002051383]	uncertain significance	11	68425269	68425269	Human	8	alternate_id
152158441	CV1564415	single nucleotide variant	NM_002335.4(LRP5):c.1496A>G (p.Asn499Ser)	Bone mineral density quantitative trait locus 1 [RCV005050541]\|LRP5-related disorder [RCV004744315]\|not provided [RCV002140510]	likely benign\|uncertain significance	11	68389964	68389964	Human	5	alternate_id
152043939	CV1588464	single nucleotide variant	NM_002335.4(LRP5):c.3843C>T (p.Asp1281=)	LRP5-related disorder [RCV003933660]\|not provided [RCV002188614]	likely benign	11	68433681	68433681	Human		alternate_id
152172850	CV1641755	single nucleotide variant	NM_002335.4(LRP5):c.4611G>A (p.Ala1537=)	LRP5-related disorder [RCV004744322]\|not provided [RCV002183980]	likely benign	11	68448833	68448833	Human		alternate_id
153347081	CV1694409	single nucleotide variant	NM_002335.4(LRP5):c.4230G>A (p.Val1410=)	LRP5-related disorder [RCV003971223]\|Osteogenesis imperfecta [RCV002277806]\|not provided [RCV003774896]	likely benign\|uncertain significance	11	68438564	68438564	Human	1	alternate_id
9850293	CV181388	single nucleotide variant	NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)	Autosomal dominant osteopetrosis 1 [RCV001260288]\|Autosomal dominant polycystic kidney disease [RCV001844811]\|Bone mineral density quantitative trait locus 1 [RCV000765011]\|LRP5-related disorder [RCV004724952]\|Osteogenesis imperfecta [RCV002277317]\|Polycystic ki ... (more) dney disease, adult type [RCV000162089]\|not provided [RCV000767146]\|not specified [RCV000174732]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	11	68423568	68423568	Human	12	alternate_id
9850294	CV181389	single nucleotide variant	NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)	Bone mineral density quantitative trait locus 1 [RCV005003511]\|LRP5-related disorder [RCV003398827]\|Polycystic kidney disease, adult type [RCV000162090]\|not provided [RCV000658613]\|not specified [RCV003150959]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	11	68425268	68425268	Human	7	alternate_id
156217003	CV1963369	single nucleotide variant	NM_002335.4(LRP5):c.2206G>A (p.Asp736Asn)	Bone mineral density quantitative trait locus 1 [RCV005050590]\|LRP5-related disorder [RCV003896223]\|not provided [RCV002575370]	uncertain significance	11	68410028	68410028	Human	5	alternate_id
155982948	CV1972532	insertion	NM_002335.4(LRP5):c.54_55insTTG (p.Leu20_Ala21insLeu)	Bone mineral density quantitative trait locus 1 [RCV005050611]\|LRP5-related disorder [RCV003898442]\|not provided [RCV002617685]	likely benign\|uncertain significance	11	68312766	68312767	Human	5	alternate_id
156382644	CV2005043	single nucleotide variant	NM_002335.4(LRP5):c.2102G>A (p.Arg701His)	LRP5-related disorder [RCV003418577]\|not provided [RCV002653768]	uncertain significance	11	68409924	68409924	Human		alternate_id
8559230	CV21308	single nucleotide variant	NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)	Bone mineral density quantitative trait locus 1 [RCV002496285]\|LRP5-related disorder [RCV003904811]\|Osteoporosis with pseudoglioma [RCV000006647]\|not provided [RCV001781193]	pathogenic	11	68386582	68386582	Human	8	alternate_id
8559235	CV21313	single nucleotide variant	NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	Bone mineral density quantitative trait locus 1 [RCV005003340]\|Exudative vitreoretinopathy 1 [RCV002247255]\|LRP5-related disorder [RCV004742219]\|Osteoporosis with pseudoglioma [RCV000006652]\|not provided [RCV000414333]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	68389949	68389949	Human	6	alternate_id
8559243	CV21321	single nucleotide variant	NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)	Autosomal dominant osteopetrosis 1 [RCV000006661]\|LRP5-related disorder [RCV004742220]\|Worth disease [RCV000006660]\|not provided [RCV000383760]	pathogenic\|likely pathogenic	11	68363784	68363784	Human	2	alternate_id
8559254	CV21332	single nucleotide variant	NM_002335.4(LRP5):c.1330C>T (p.Arg444Cys)	Exudative vitreoretinopathy 4, digenic [RCV000006673]\|LRP5-related disorder [RCV004742221]\|not provided [RCV001376975]	pathogenic\|likely pathogenic\|uncertain significance	11	68386630	68386630	Human	1	alternate_id
12902185	CV227347	single nucleotide variant	NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp)	Bone mineral density quantitative trait locus 1 [RCV005003561]\|Exudative vitreoretinopathy 4 [RCV000490288]\|LRP5-related disorder [RCV004742334]\|Osteogenesis imperfecta [RCV002277573]\|not provided [RCV000486498]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68425226	68425226	Human	6	alternate_id
11641358	CV270793	single nucleotide variant	NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile)	LRP5-related disorder [RCV003909986]\|not provided [RCV000355463]\|not specified [RCV005055826]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68438529	68438529	Human		alternate_id
11636688	CV274290	single nucleotide variant	NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser)	Bone mineral density quantitative trait locus 1 [RCV005003615]\|Inborn genetic diseases [RCV002518113]\|LRP5-related disorder [RCV004742369]\|not provided [RCV000273057]	likely benign\|uncertain significance	11	68413964	68413964	Human	6	alternate_id
401931462	CV2797173	single nucleotide variant	NM_002335.4(LRP5):c.1373T>C (p.Leu458Pro)	LRP5-related disorder [RCV003408306]	uncertain significance	11	68386673	68386673	Human		trait , alternate_id
401931741	CV2801479	single nucleotide variant	NM_002335.4(LRP5):c.3347C>T (p.Ala1116Val)	LRP5-related disorder [RCV003408461]	uncertain significance	11	68425212	68425212	Human		trait , alternate_id
401921090	CV2802060	deletion	NM_002335.4(LRP5):c.3070_3071del (p.Arg1024fs)	LRP5-related disorder [RCV003402784]	likely pathogenic	11	68423531	68423532	Human		trait , alternate_id
405169339	CV3122309	single nucleotide variant	NM_002335.4(LRP5):c.2489C>T (p.Ser830Leu)	LRP5-related disorder [RCV003939214]\|not provided [RCV003818898]	uncertain significance	11	68411606	68411606	Human		alternate_id
405014716	CV3138898	single nucleotide variant	NM_002335.4(LRP5):c.3459C>T (p.Asn1153=)	Bone mineral density quantitative trait locus 1 [RCV005013221]\|LRP5-related disorder [RCV004741727]\|not provided [RCV003829235]	likely benign\|uncertain significance	11	68426009	68426009	Human	5	alternate_id
405291706	CV3205986	single nucleotide variant	NM_002335.4(LRP5):c.4434C>T (p.Val1478=)	LRP5-related disorder [RCV003964082]	likely benign	11	68439862	68439862	Human		trait , alternate_id
405258854	CV3215124	single nucleotide variant	NM_002335.4(LRP5):c.2335G>A (p.Glu779Lys)	LRP5-related disorder [RCV003942179]	uncertain significance	11	68411452	68411452	Human		trait , alternate_id
405262083	CV3216611	single nucleotide variant	NM_002335.4(LRP5):c.1508G>A (p.Gly503Glu)	LRP5-related disorder [RCV003944667]	uncertain significance	11	68389976	68389976	Human		trait , alternate_id
408372325	CV3509850	single nucleotide variant	NM_002335.4(LRP5):c.1828G>T (p.Gly610Trp)	LRP5-related disorder [RCV004742961]	likely pathogenic	11	68406550	68406550	Human		trait , alternate_id
12741055	CV360039	microsatellite	NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)	Inborn genetic diseases [RCV003352851]\|LRP5-related disorder [RCV004742413]\|Osteogenesis imperfecta [RCV002278639]\|Retinal dystrophy [RCV004816641]\|not provided [RCV000767145]\|not specified [RCV000413938]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68312746	68312747	Human		alternate_id
13515715	CV490162	single nucleotide variant	NM_002335.4(LRP5):c.407A>C (p.Asn136Thr)	Bone mineral density quantitative trait locus 1 [RCV002491193]\|LRP5-related disorder [RCV003409860]\|not provided [RCV000594637]	uncertain significance	11	68348162	68348162	Human	8	alternate_id
13517143	CV490575	single nucleotide variant	NM_002335.4(LRP5):c.4272C>T (p.His1424=)	LRP5-related disorder [RCV003962682]\|not provided [RCV000596327]\|not specified [RCV004586817]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68438606	68438606	Human		alternate_id
13522849	CV492661	single nucleotide variant	NM_002335.4(LRP5):c.3256A>G (p.Met1086Val)	Bone mineral density quantitative trait locus 1 [RCV002491215]\|LRP5-related disorder [RCV003915733]\|not provided [RCV001501787]\|not specified [RCV000592263]	likely benign	11	68425121	68425121	Human	8	alternate_id
13706029	CV537168	single nucleotide variant	NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys)	Bone mineral density quantitative trait locus 1 [RCV005049632]\|LRP5-related disorder [RCV004742559]\|not provided [RCV000658612]\|not specified [RCV003317323]	conflicting interpretations of pathogenicity\|uncertain significance	11	68425110	68425110	Human	5	alternate_id
14711266	CV656079	single nucleotide variant	NM_002335.4(LRP5):c.518C>T (p.Thr173Met)	LRP5-related disorder [RCV004742654]\|not provided [RCV000827982]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68357679	68357679	Human		alternate_id
15166455	CV713108	single nucleotide variant	NM_002335.4(LRP5):c.3879G>A (p.Glu1293=)	Bone mineral density quantitative trait locus 1 [RCV002489411]\|LRP5-related disorder [RCV003936112]\|not provided [RCV000971183]	likely benign	11	68433717	68433717	Human	8	alternate_id
15173766	CV738240	single nucleotide variant	NM_002335.4(LRP5):c.4248G>A (p.Ala1416=)	Bone mineral density quantitative trait locus 1 [RCV002479041]\|LRP5-related disorder [RCV004743183]\|not provided [RCV000905891]	likely benign	11	68438582	68438582	Human	8	alternate_id
15197703	CV752915	single nucleotide variant	NM_002335.4(LRP5):c.3487C>T (p.Leu1163Phe)	LRP5-related disorder [RCV003923175]\|Osteogenesis imperfecta [RCV002279629]\|not provided [RCV000912048]\|not specified [RCV004586979]	likely benign	11	68426037	68426037	Human	1	alternate_id
15117390	CV752921	single nucleotide variant	NM_002335.4(LRP5):c.4353C>T (p.Ile1451=)	LRP5-related disorder [RCV004743195]\|not provided [RCV000917787]	likely benign	11	68439781	68439781	Human		alternate_id
15153887	CV752924	single nucleotide variant	NM_002335.4(LRP5):c.4815G>A (p.Pro1605=)	LRP5-related disorder [RCV004743202]\|not provided [RCV000924145]	likely benign	11	68449037	68449037	Human		alternate_id
15103252	CV784152	single nucleotide variant	NM_002335.4(LRP5):c.1996G>A (p.Asp666Asn)	Bone mineral density quantitative trait locus 1 [RCV005049721]\|LRP5-related disorder [RCV004743235]\|Microcephaly [RCV001252844]\|not provided [RCV000975980]	likely benign\|uncertain significance	11	68406718	68406718	Human	7	alternate_id
26885489	CV838882	single nucleotide variant	NM_002335.4(LRP5):c.680C>T (p.Ser227Leu)	Bone mineral density quantitative trait locus 1 [RCV002489632]\|Inborn genetic diseases [RCV002553325]\|LRP5-related disorder [RCV004743268]\|not provided [RCV001053617]	uncertain significance	11	68357841	68357841	Human	9	alternate_id
26893822	CV838906	single nucleotide variant	NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys)	Bone mineral density quantitative trait locus 1 [RCV002505637]\|LRP5-related disorder [RCV003898070]\|not provided [RCV001062922]	uncertain significance	11	68425202	68425202	Human	8	alternate_id
26886026	CV838909	single nucleotide variant	NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr)	Bone mineral density quantitative trait locus 1 [RCV002497419]\|LRP5-related disorder [RCV003396681]\|not provided [RCV001054457]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68433739	68433739	Human	8	alternate_id
26914830	CV838912	single nucleotide variant	NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr)	Bone mineral density quantitative trait locus 1 [RCV002481863]\|Inborn genetic diseases [RCV004639433]\|LRP5-related disorder [RCV003413822]\|not provided [RCV001038152]	uncertain significance	11	68439819	68439819	Human	9	alternate_id
26910877	CV856732	single nucleotide variant	NM_002335.4(LRP5):c.1304C>T (p.Thr435Met)	Bone mineral density quantitative trait locus 1 [RCV005005033]\|LRP5-related disorder [RCV004743285]\|Retinal dystrophy [RCV001075597]\|not provided [RCV001862623]	uncertain significance	11	68386604	68386604	Human	7	alternate_id
38470384	CV858277	single nucleotide variant	NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)	LRP5-related disorder [RCV003906177]\|Osteoporosis with pseudoglioma [RCV001260286]\|not provided [RCV001202577]	likely pathogenic\|uncertain significance	11	68386648	68386648	Human	1	alternate_id
38479791	CV926368	single nucleotide variant	NM_002335.4(LRP5):c.4622C>G (p.Thr1541Arg)	Inborn genetic diseases [RCV002562423]\|LRP5-related disorder [RCV003398953]\|not provided [RCV001217244]	uncertain significance	11	68448844	68448844	Human	1	alternate_id
38465778	CV935749	single nucleotide variant	NM_002335.4(LRP5):c.4256A>G (p.Asn1419Ser)	LRP5-related disorder [RCV004743321]\|not provided [RCV001201770]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68438590	68438590	Human		alternate_id
38490239	CV947621	single nucleotide variant	NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)	Bone mineral density quantitative trait locus 1 [RCV002484301]\|LRP5-related disorder [RCV003983855]\|not provided [RCV001238748]\|not specified [RCV002222683]	likely pathogenic\|uncertain significance	11	68389987	68389987	Human	8	alternate_id
38457939	CV947636	single nucleotide variant	NM_002335.4(LRP5):c.4226G>A (p.Arg1409His)	Bone mineral density quantitative trait locus 1 [RCV002497776]\|Inborn genetic diseases [RCV004032647]\|LRP5-related disorder [RCV003414025]\|not provided [RCV001228765]	uncertain significance	11	68438560	68438560	Human	9	alternate_id
38497300	CV947639	single nucleotide variant	NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu)	Bone mineral density quantitative trait locus 1 [RCV002484237]\|LRP5-related disorder [RCV004727006]\|not provided [RCV001226974]	uncertain significance	11	68448976	68448976	Human	8	alternate_id
38456409	CV956631	single nucleotide variant	NM_002335.4(LRP5):c.2359G>A (p.Val787Met)	Bone mineral density quantitative trait locus 1 [RCV002480836]\|LRP5-related disorder [RCV003399013]\|not provided [RCV001245766]	uncertain significance	11	68411476	68411476	Human	8	alternate_id
38468447	CV956635	single nucleotide variant	NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu)	Bone mineral density quantitative trait locus 1 [RCV005005122]\|Inborn genetic diseases [RCV004034915]\|LRP5-related disorder [RCV004743364]\|not provided [RCV001248036]	uncertain significance	11	68438476	68438476	Human	6	alternate_id
150332976	CV1169478	duplication	NM_002335.4(LRP5):c.4001-331_4001-329dup	not provided [RCV001537101]	benign	11	68436553	68436554	Human		name
150515229	CV1217423	duplication	NM_002335.4(LRP5):c.2091+159_2091+160dup	not provided [RCV001608328]	benign	11	68406962	68406963	Human		name
150440871	CV1220229	duplication	NM_002335.4(LRP5):c.3637+254_3637+255dup	not provided [RCV001610212]	benign	11	68426423	68426424	Human		name
150462638	CV1253689	duplication	NM_002335.4(LRP5):c.1413-265_1413-250dup	not provided [RCV001669731]	benign	11	68389606	68389607	Human		name
127259917	CV1078727	single nucleotide variant	NM_002335.4(LRP5):c.4269G>T (p.Pro1423=)	not provided [RCV001419936]	likely benign	11	68438603	68438603	Human		name

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