ClinVar for MedGen (Select 14535) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664878	NM_000088.4(COL1A1):c.1516-5A>G	COL1A1	Single nucleotide variant (intron variant)	Osteoporosis	GUncertain significance
Select item 1694467	NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser)	COL1A2 (G511S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GPathogenic
Select item 1662130	NM_002335.4(LRP5):c.4000+15G>A	LRP5	Single nucleotide variant (intron variant)	Osteoporosis with pseudoglioma +8 more	GLikely benign
Select item 1654764	NM_002335.4(LRP5):c.4000+11C>G	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 4 +8 more	GLikely benign
Select item 1648830	NM_002335.4(LRP5):c.1016-10G>A	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1648198	NM_002335.4(LRP5):c.4112-18T>C	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1645898	NM_002335.4(LRP5):c.3638-19T>C	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1642423	NM_002335.4(LRP5):c.4269G>A (p.Pro1423=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 1641937	NM_002335.4(LRP5):c.1412+12G>A	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1640494	NM_002335.4(LRP5):c.883+9C>T	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 1639802	NM_002335.4(LRP5):c.4167C>T (p.Pro1389=)	LRP5	Single nucleotide variant (synonymous variant)	Worth disease +8 more	GLikely benign
Select item 1625864	NM_002335.4(LRP5):c.2828-15C>T	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1620849	NM_002335.4(LRP5):c.3873C>T (p.Asp1291=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1610682	NM_002335.4(LRP5):c.488+11dup	LRP5	Duplication (intron variant)	not provided +8 more	GLikely benign
Select item 1604003	NM_002335.4(LRP5):c.2688C>T (p.His896=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1601640	NM_002335.4(LRP5):c.4349-17C>T	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 1591819	NM_002335.4(LRP5):c.4137C>T (p.Asp1379=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 4 +8 more	GLikely benign
Select item 1578098	NM_002335.4(LRP5):c.1015+19_1015+23del	LRP5	Microsatellite (intron variant)	Autosomal dominant osteopetrosis 1 +8 more	GLikely benign
Select item 1567208	NM_002335.4(LRP5):c.201A>C (p.Ala67=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GLikely benign
Select item 1566550	NM_002335.4(LRP5):c.1585-10C>T	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1547003	NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 1533114	NM_002335.4(LRP5):c.924C>T (p.His308=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1515030	NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile)	LRP5 (V1074I +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1514966	NM_002335.4(LRP5):c.220A>G (p.Lys74Glu)	LRP5 (K74E)	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic liver disease 4 with or without kidney cysts +8 more	GUncertain significance
Select item 1514510	NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu)	LRP5 (R1036L +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1514088	NM_002335.4(LRP5):c.4586+3A>G	LRP5	Single nucleotide variant (intron variant)	Polycystic liver disease 4 with or without kidney cysts +8 more	GUncertain significance
Select item 1511134	NM_002335.4(LRP5):c.4518G>A (p.Thr1506=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1509538	NM_002335.4(LRP5):c.4667G>A (p.Arg1556His)	LRP5 (R1556H +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1507482	NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr)	LRP5 (M819T +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1506201	NM_002335.4(LRP5):c.1675T>C (p.Tyr559His)	LRP5 (Y559H)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1500361	NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser)	LRP5 (G269S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 1498727	NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn)	LRP5 (D1379N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 1 +8 more	GUncertain significance
Select item 1491932	NM_002335.4(LRP5):c.2431A>G (p.Ile811Val)	LRP5 (I811V +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +8 more	GUncertain significance
Select item 1477838	NM_002335.4(LRP5):c.35T>A (p.Leu12Gln)	LRP5 (L12Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 1477068	NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala)	LRP5 (P1574A +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1473828	NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser)	LRP5 (G923S +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1468898	NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr)	LRP5 (I1136T +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1468179	NM_002335.4(LRP5):c.143C>G (p.Ala48Gly)	LRP5 (A48G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1467665	NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser)	LRP5 (G1442S +1 more)	Single nucleotide variant (missense variant)	Worth disease +8 more	GUncertain significance
Select item 1467355	NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser)	LRP5 (N531S)	Single nucleotide variant (5 prime UTR variant +1 more)	Worth disease +8 more	GUncertain significance
Select item 1462668	NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu)	LRP5 (P1440L +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 1444048	NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn)	LRP5 (T299N +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 1441794	NM_002335.4(LRP5):c.3237-16C>A	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1436157	NM_002335.4(LRP5):c.148G>A (p.Gly50Arg)	LRP5 (G50R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +9 more	GUncertain significance
Select item 1434812	NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu)	LRP5 (S901L +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1431093	NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	COL1A1 (P556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 1430712	NM_002335.4(LRP5):c.249C>T (p.Ser83=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +8 more	GConflicting classifications of pathogenicity
Select item 1430467	NM_002335.4(LRP5):c.2134G>A (p.Val712Met)	LRP5 (V712M +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 1429763	NM_002335.4(LRP5):c.739G>A (p.Gly247Arg)	LRP5 (G247R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1427663	NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys)	LRP5 (R236C +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1421750	NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro)	LRP5 (R761P +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GConflicting classifications of pathogenicity
Select item 1414570	NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val)	LRP5 (A1076V +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1408390	NM_002335.4(LRP5):c.3733G>A (p.Val1245Met)	LRP5 (V1245M +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1406842	NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys)	LRP5 (E1104K +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1403701	NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu)	LRP5 (P1539L +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1402944	NM_002335.4(LRP5):c.556C>T (p.Arg186Trp)	LRP5 (R186W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant osteopetrosis 1 +9 more	GUncertain significance
Select item 1401756	NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1400363	NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu)	LRP5 (P1261L +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1399166	NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val)	LRP5 (A1005V +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1399063	NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys)	LRP5 (Y1426C +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1397236	NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys)	LRP5 (R899C +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 1393344	NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys)	LRP5 (R1063C +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 1391846	NM_002335.4(LRP5):c.1076C>T (p.Thr359Met)	LRP5 (T359M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1391843	NM_002335.4(LRP5):c.575C>T (p.Ser192Leu)	LRP5 (S192L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1391827	NM_002335.4(LRP5):c.3427+12G>A	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1375624	NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser)	LRP5 (N446S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1369176	NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg)	LRP5 (P1261R +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 1369175	NM_002335.4(LRP5):c.3637+4C>T	LRP5	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 1367854	NM_002335.4(LRP5):c.3656G>A (p.Arg1219His)	LRP5 (R1219H +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1356994	NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln)	LRP5 (R1078Q +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1350710	NM_002335.4(LRP5):c.3404G>A (p.Arg1135His)	LRP5 (R554H +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 1342995	NM_002615.7(SERPINF1):c.336G>T (p.Leu112Phe)	SERPINF1 (L112F)	Single nucleotide variant (missense variant +1 more)	Osteoporosis	GUncertain significance
Select item 1331540	NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu)	LRP5 (V1433L +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 1303470	NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys)	LRP5 (R1103C +1 more)	Single nucleotide variant (missense variant)	Worth disease +8 more	GUncertain significance
Select item 1254747	NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	COL1A1 (Q393*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta, perinatal lethal +8 more	GPathogenic/Likely pathogenic
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +9 more	GBenign/Likely benign
Select item 1201435	NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg)	LRP5 (G1420R +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +8 more	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 1168797	NM_002335.4(LRP5):c.687-17C>T	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 1168683	NM_002335.4(LRP5):c.91+9G>C	LRP5	Single nucleotide variant (intron variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1166920	NM_002335.4(LRP5):c.3954C>T (p.Asp1318=)	LRP5	Single nucleotide variant (synonymous variant)	Worth disease +8 more	GBenign/Likely benign
Select item 1165717	NM_002335.4(LRP5):c.4112-14T>C	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 1164189	NM_002335.4(LRP5):c.2828-18T>C	LRP5	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 1161961	NM_002335.4(LRP5):c.2115C>T (p.Asn705=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 1156740	NM_002335.4(LRP5):c.4143G>A (p.Pro1381=)	LRP5	Single nucleotide variant (synonymous variant)	Autosomal dominant osteopetrosis 1 +8 more	GLikely benign
Select item 1155518	NM_002335.4(LRP5):c.2504-16GT[3]	LRP5	Microsatellite (intron variant)	Bone mineral density quantitative trait locus 1 +8 more	GLikely benign
Select item 1153845	NM_002335.4(LRP5):c.4068C>T (p.Asp1356=)	LRP5	Single nucleotide variant (synonymous variant)	Worth disease +8 more	GLikely benign
Select item 1151524	NM_002335.4(LRP5):c.1563C>T (p.Asp521=)	LRP5	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GLikely benign
Select item 1151322	NM_002335.4(LRP5):c.1015+17G>C	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1151162	NM_002335.4(LRP5):c.3870C>T (p.Ser1290=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 1150648	NM_002335.4(LRP5):c.4111+19C>T	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1146268	NM_002335.4(LRP5):c.2625C>T (p.Ser875=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1145828	NM_002335.4(LRP5):c.4348+3A>G	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1144878	NM_002335.4(LRP5):c.4489-6C>T	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1141707	NM_002335.4(LRP5):c.2334C>T (p.Thr778=)	LRP5	Single nucleotide variant (synonymous variant)	Autosomal dominant osteopetrosis 1 +8 more	GLikely benign
Select item 1137908	NM_002335.4(LRP5):c.4782C>T (p.Pro1594=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 1134955	NM_002335.4(LRP5):c.488+15G>A	LRP5	Single nucleotide variant (intron variant)	Autosomal dominant osteopetrosis 1 +8 more	GLikely benign
Select item 1133990	NM_002335.4(LRP5):c.4348+19G>A	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1131783	NM_002335.4(LRP5):c.3285C>T (p.Arg1095=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1124051	NM_002335.4(LRP5):c.4297G>A (p.Val1433Met)	LRP5 (V1433M +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GLikely benign

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