"Ambry Genetics"[submitter] AND "LRP5"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1483118	NM_002335.4(LRP5):c.31C>T (p.Pro11Ser)	LRP5 (P11S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 372405	NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 2488962	NM_002335.4(LRP5):c.71G>A (p.Gly24Asp)	LRP5 (G24D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473734	NM_002335.4(LRP5):c.140A>G (p.Asp47Gly)	LRP5 (D47G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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)	Osteoporosis with pseudoglioma +9 more	GUncertain significance
Select item 1041160	NM_002335.4(LRP5):c.164C>T (p.Ser55Phe)	LRP5 (S55F)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis +9 more	GUncertain significance
Select item 3120309	NM_002335.4(LRP5):c.298C>G (p.Gln100Glu)	LRP5 (Q100E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1008325	NM_002335.4(LRP5):c.392G>A (p.Arg131His)	LRP5 (R131H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 208784	NM_002335.4(LRP5):c.500G>C (p.Trp167Ser)	LRP5 (W167S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1702027	NM_002335.4(LRP5):c.551G>A (p.Ser184Asn)	LRP5 (S184N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 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)	Inborn genetic diseases +9 more	GUncertain significance
Select item 849611	NM_002335.4(LRP5):c.680C>T (p.Ser227Leu)	LRP5 (S227L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +9 more	GUncertain significance
Select item 2478266	NM_002335.4(LRP5):c.908A>G (p.Asn303Ser)	LRP5 (N303S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1064518	NM_002335.4(LRP5):c.913G>A (p.Gly305Ser)	LRP5 (G305S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1969850	NM_002335.4(LRP5):c.934C>G (p.Leu312Val)	LRP5 (L312V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1525279	NM_002335.4(LRP5):c.998G>A (p.Gly333Asp)	LRP5 (G333D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2473733	NM_002335.4(LRP5):c.1015G>A (p.Gly339Arg)	LRP5 (G339R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 450541	NM_002335.4(LRP5):c.1027G>A (p.Val343Met)	LRP5 (V343M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 852712	NM_002335.4(LRP5):c.1132A>G (p.Ile378Val)	LRP5 (I378V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +9 more	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)	not specified +10 more	GUncertain significance
Select item 1008154	NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln)	LRP5 (R428Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +9 more	GUncertain significance
Select item 936010	NM_002335.4(LRP5):c.1310C>T (p.Thr437Met)	LRP5 (T437M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 968174	NM_002335.4(LRP5):c.1484G>A (p.Arg495His)	LRP5 (R495H)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 834386	NM_002335.4(LRP5):c.1528C>G (p.Leu510Val)	LRP5 (L510V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1019385	NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser)	LRP5 (P546S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 6289	NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln)	LRP5 (R570Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 939331	NM_002335.4(LRP5):c.1744A>G (p.Ile582Val)	LRP5 (I582V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +9 more	GUncertain significance
Select item 966682	NM_002335.4(LRP5):c.1798G>A (p.Val600Ile)	LRP5 (V600I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 797083	NM_002335.4(LRP5):c.1800C>T (p.Val600=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1255566	NM_002335.4(LRP5):c.1948A>G (p.Thr650Ala)	LRP5 (T650A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2478871	NM_002335.4(LRP5):c.1993A>C (p.Asn665His)	LRP5 (N665H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1002132	NM_002335.4(LRP5):c.2057A>G (p.Asn686Ser)	LRP5 (N105S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1401783	NM_002335.4(LRP5):c.2111T>C (p.Met704Thr)	LRP5 (M704T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2545469	NM_002335.4(LRP5):c.2284A>G (p.Asn762Asp)	LRP5 (N181D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530963	NM_002335.4(LRP5):c.2365G>A (p.Ala789Thr)	LRP5 (A789T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303938	NM_002335.4(LRP5):c.2389A>G (p.Met797Val)	LRP5 (M797V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1058770	NM_002335.4(LRP5):c.2393C>T (p.Thr798Met)	LRP5 (T217M +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 2299766	NM_002335.4(LRP5):c.2499G>A (p.Met833Ile)	LRP5 (M252I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 937241	NM_002335.4(LRP5):c.2518G>A (p.Val840Met)	LRP5 (V259M +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1500361	NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser)	LRP5 (G269S +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 2480301	NM_002335.4(LRP5):c.2630G>A (p.Arg877Gln)	LRP5 (R296Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 520844	NM_002335.4(LRP5):c.2718_2721del (p.Met907fs)	LRP5 (M326fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 858315	NM_002335.4(LRP5):c.2724C>G (p.His908Gln)	LRP5 (H327Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3120306	NM_002335.4(LRP5):c.2771A>G (p.His924Arg)	LRP5 (H343R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 290053	NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser)	LRP5 (G927S +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +9 more	GConflicting classifications of pathogenicity
Select item 3120307	NM_002335.4(LRP5):c.2804A>T (p.Asp935Val)	LRP5 (D935V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120308	NM_002335.4(LRP5):c.2821T>C (p.Cys941Arg)	LRP5 (C360R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243410	NM_002335.4(LRP5):c.2828C>T (p.Pro943Leu)	LRP5 (P943L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 283834	NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys)	LRP5 (Y984C +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +10 more	GUncertain significance
Select item 870120	NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln)	LRP5 (R1002Q +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +2 more	GConflicting classifications of pathogenicity
Select item 2532617	NM_002335.4(LRP5):c.3101A>G (p.Tyr1034Cys)	LRP5 (Y453C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120310	NM_002335.4(LRP5):c.3124T>C (p.Cys1042Arg)	LRP5 (C1042R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596427	NM_002335.4(LRP5):c.3136A>G (p.Asn1046Asp)	LRP5 (N1046D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848647	NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile)	LRP5 (V469I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 1018530	NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys)	LRP5 (R1066C +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 1052764	NM_002335.4(LRP5):c.3199G>A (p.Asp1067Asn)	LRP5 (D1067N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 520845	NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter)	LRP5 (R1078* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 3120312	NM_002335.4(LRP5):c.3254A>G (p.Asn1085Ser)	LRP5 (N1085S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 967925	NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met)	LRP5 (I1093M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 2246644	NM_002335.4(LRP5):c.3353T>C (p.Val1118Ala)	LRP5 (V1118A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492439	NM_002335.4(LRP5):c.3476G>A (p.Gly1159Asp)	LRP5 (G1159D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120313	NM_002335.4(LRP5):c.3511G>A (p.Asp1171Asn)	LRP5 (D1171N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712711	NM_002335.4(LRP5):c.3568C>T (p.Arg1190Cys)	LRP5 (R1190C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1916108	NM_002335.4(LRP5):c.3641C>T (p.Ala1214Val)	LRP5 (A633V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1062495	NM_002335.4(LRP5):c.3793G>C (p.Ala1265Pro)	LRP5 (A1265P +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 1054364	NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser)	LRP5 (A1277S +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +9 more	GUncertain significance
Select item 1720043	NM_002335.4(LRP5):c.3881G>A (p.Gly1294Asp)	LRP5 (G1294D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149797	NM_002335.4(LRP5):c.3940C>T (p.Arg1314Cys)	LRP5 (R1314C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 955027	NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser)	LRP5 (N1339S +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +9 more	GUncertain significance
Select item 960075	NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser)	LRP5 (G1346S +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 972088	NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu)	LRP5 (P1381L +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 497791	NM_002335.4(LRP5):c.4225C>T (p.Arg1409Cys)	LRP5 (R1409C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 956032	NM_002335.4(LRP5):c.4226G>A (p.Arg1409His)	LRP5 (R828H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GUncertain significance
Select item 1951327	NM_002335.4(LRP5):c.4228G>A (p.Val1410Met)	LRP5 (V1410M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 947911	NM_002335.4(LRP5):c.4292C>T (p.Pro1431Leu)	LRP5 (P1431L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1908278	NM_002335.4(LRP5):c.4399C>T (p.Arg1467Trp)	LRP5 (R1467W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2605060	NM_002335.4(LRP5):c.4408G>A (p.Val1470Met)	LRP5 (V889M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985494	NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del)	LRP5	Deletion (inframe_deletion)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 6287	NM_002335.4(LRP5):c.4488+2T>G	LRP5	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 946384	NM_002335.4(LRP5):c.4622C>G (p.Thr1541Arg)	LRP5 (T1541R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1915470	NM_002335.4(LRP5):c.4636G>A (p.Asp1546Asn)	LRP5 (D965N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2478923	NM_002335.4(LRP5):c.4669T>G (p.Trp1557Gly)	LRP5 (W976G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 82