"GeneDx"[submitter] AND "LRP5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1250379	NC_000011.10:g.68312389C>T	LOC130006248, LRP5	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 287479	NM_002335.4(LRP5):c.-19del	LRP5	Deletion (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 499142	NM_002335.4(LRP5):c.16C>A (p.Pro6Thr)	LRP5 (P6T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1304556	NM_002335.4(LRP5):c.34CTG[15] (p.Leu15_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 372405	NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193231	NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 204504	NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 193232	NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del)	LRP5 (L20del)	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1309339	NM_002335.4(LRP5):c.58_69dup (p.Leu20_Cys23dup)	LRP5	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1263845	NM_002335.4(LRP5):c.91+277C>G	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190760	NM_002335.4(LRP5):c.92-95A>C	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 279843	NM_002335.4(LRP5):c.98C>T (p.Pro33Leu)	LRP5 (P33L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1057791	NM_002335.4(LRP5):c.119G>A (p.Arg40His)	LRP5 (R40H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1082982	NM_002335.4(LRP5):c.228C>T (p.Ala76=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GLikely benign
Select item 195167	NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)	LRP5 (K88R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 195166	NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)	LRP5 (Q89R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 389137	NM_002335.4(LRP5):c.303C>T (p.Asn101=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GLikely benign
Select item 2430550	NM_002335.4(LRP5):c.317G>T (p.Gly106Val)	LRP5 (G106V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 389138	NM_002335.4(LRP5):c.375G>T (p.Thr125=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GLikely benign
Select item 668439	NM_002335.4(LRP5):c.459G>A (p.Pro153=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1246014	NM_002335.4(LRP5):c.488+53C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263222	NM_002335.4(LRP5):c.488+134del	LRP5	Deletion (intron variant)	not provided	GBenign
Select item 1272553	NM_002335.4(LRP5):c.488+136_488+194del	LRP5	Deletion (intron variant)	not provided	GBenign
Select item 1218552	NM_002335.4(LRP5):c.488+218G>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245961	NM_002335.4(LRP5):c.488+299T>C	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215482	NM_002335.4(LRP5):c.489-267G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 837667	NM_002335.4(LRP5):c.494T>C (p.Met165Thr)	LRP5 (M165T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 669010	NM_002335.4(LRP5):c.518C>T (p.Thr173Met)	LRP5 (T173M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 853488	NM_002335.4(LRP5):c.533G>T (p.Arg178Leu)	LRP5 (R178L)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 1062770	NM_002335.4(LRP5):c.580A>G (p.Ile194Val)	LRP5 (I194V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1267918	NM_002335.4(LRP5):c.686+61C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236707	NM_002335.4(LRP5):c.687-217A>C	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285947	NM_002335.4(LRP5):c.687-48=	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246268	NM_002335.4(LRP5):c.687-37T>G	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168797	NM_002335.4(LRP5):c.687-17C>T	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 4 +8 more	GBenign/Likely benign
Select item 197206	NM_002335.4(LRP5):c.687-8G>A	LRP5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 6282	NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)	LRP5 (A242T)	Single nucleotide variant (5 prime UTR variant +1 more)	Worth disease +1 more	GPathogenic/Likely pathogenic
Select item 2571817	NM_002335.4(LRP5):c.754T>G (p.Trp252Gly)	LRP5 (W252G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 524029	NM_002335.4(LRP5):c.840dup (p.Pro281fs)	LRP5 (P281fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1222759	NM_002335.4(LRP5):c.883+100G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288400	NM_002335.4(LRP5):c.883+199G>C	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260664	NM_002335.4(LRP5):c.883+201G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190656	NM_002335.4(LRP5):c.883+206G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180914	NM_002335.4(LRP5):c.883+252A>G	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262200	NM_002335.4(LRP5):c.884-308A>G	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232630	NM_002335.4(LRP5):c.884-295dup	LRP5	Duplication (intron variant)	not provided	GBenign
Select item 1252522	NM_002335.4(LRP5):c.884-182dup	LRP5	Duplication (intron variant)	not provided	GBenign
Select item 1179268	NM_002335.4(LRP5):c.884-153A>C	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219008	NM_002335.4(LRP5):c.884-123C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258642	NM_002335.4(LRP5):c.884-4T>C	LRP5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1722917	NM_002335.4(LRP5):c.1007G>A (p.Cys336Tyr)	LRP5 (C336Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1168798	NM_002335.4(LRP5):c.1015+15C>T	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 4 +8 more	GBenign
Select item 1188474	NM_002335.4(LRP5):c.1015+66G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204599	NM_002335.4(LRP5):c.1016-91T>C	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274555	NM_002335.4(LRP5):c.1016-74C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450541	NM_002335.4(LRP5):c.1027G>A (p.Val343Met)	LRP5 (V343M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 597116	NM_002335.4(LRP5):c.1032G>C (p.Leu344=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2572002	NM_002335.4(LRP5):c.1133T>A (p.Ile378Asn)	LRP5 (I378N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2662962	NM_002335.4(LRP5):c.1172A>T (p.Asp391Val)	LRP5 (D391V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 520692	NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)	LRP5 (A400V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +10 more	GUncertain significance
Select item 1051480	NM_002335.4(LRP5):c.1220C>T (p.Ala407Val)	LRP5 (A407V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503257	NM_002335.4(LRP5):c.1256A>G (p.Asp419Gly)	LRP5 (D419G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 6269	NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)	LRP5 (R428*)	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +9 more	GPathogenic
Select item 593309	NM_002335.4(LRP5):c.1299C>T (p.Thr433=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1053130	NM_002335.4(LRP5):c.1315C>T (p.Arg439Cys)	LRP5 (R439C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1309030	NM_002335.4(LRP5):c.1328C>A (p.Thr443Lys)	LRP5 (T443K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1526384	NM_002335.4(LRP5):c.1385G>A (p.Arg462Gln)	LRP5 (R462Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 498250	NM_002335.4(LRP5):c.1395A>C (p.Ala465=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic liver disease 4 with or without kidney cysts +9 more	GBenign/Likely benign
Select item 258633	NM_002335.4(LRP5):c.1412+8G>A	LRP5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1188744	NM_002335.4(LRP5):c.1412+48C>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296643	NM_002335.4(LRP5):c.1412+227G>C	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262498	NM_002335.4(LRP5):c.1413-265_1413-250dup	LRP5	Duplication (intron variant)	not provided	GBenign
Select item 1207518	NM_002335.4(LRP5):c.1413-184G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196408	NM_002335.4(LRP5):c.1413-169C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224179	NM_002335.4(LRP5):c.1413-154C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229431	NM_002335.4(LRP5):c.1413-50G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488970	NM_002335.4(LRP5):c.1413-7T>A	LRP5	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2503194	NM_002335.4(LRP5):c.1440G>T (p.Glu480Asp)	LRP5 (E480D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6274	NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	LRP5 (R494Q)	Single nucleotide variant (missense variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GPathogenic/Likely pathogenic
Select item 450538	NM_002335.4(LRP5):c.1507G>A (p.Gly503Arg)	LRP5 (G503R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1702821	NM_002335.4(LRP5):c.1571C>G (p.Thr524Arg)	LRP5 (T524R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450537	NM_002335.4(LRP5):c.1582G>A (p.Glu528Lys)	LRP5 (E528K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1179370	NM_002335.4(LRP5):c.1584+184C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229779	NM_002335.4(LRP5):c.1585-126A>G	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241533	NM_002335.4(LRP5):c.1585-118G>T	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668442	NM_002335.4(LRP5):c.1585-11C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198779	NM_002335.4(LRP5):c.1585-9G>A	LRP5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1036364	NM_002335.4(LRP5):c.1613G>A (p.Arg538Gln)	LRP5 (R538Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 258634	NM_002335.4(LRP5):c.1647T>C (p.Phe549=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1320674	NM_002335.4(LRP5):c.1678T>C (p.Trp560Arg)	LRP5 (W560R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1703428	NM_002335.4(LRP5):c.1732C>T (p.Arg578Trp)	LRP5 (R578W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1700832	NM_002335.4(LRP5):c.1736A>G (p.Asp579Gly)	LRP5 (D579G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 841665	NM_002335.4(LRP5):c.1738G>A (p.Val580Ile)	LRP5 (V580I)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 939331	NM_002335.4(LRP5):c.1744A>G (p.Ile582Val)	LRP5 (I582V)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +8 more	GUncertain significance
Select item 423854	NM_002335.4(LRP5):c.1748A>T (p.Asp583Val)	LRP5 (D583V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1698288	NM_002335.4(LRP5):c.1793A>G (p.Lys598Arg)	LRP5 (K598R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1269425	NM_002335.4(LRP5):c.1801+62C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187064	NM_002335.4(LRP5):c.1801+297G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212268	NM_002335.4(LRP5):c.1801+351G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273258	NM_002335.4(LRP5):c.1801+935A>C	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign

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