"PreventionGenetics, part of Exact Sciences"[submitter] AND "LRP5"[gen - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1922692	NM_002335.4(LRP5):c.54_55insTTG (p.Leu20_Ala21insLeu)	LRP5	Insertion (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3042274	NM_002335.4(LRP5):c.81C>G (p.Ala27=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition	GLikely benign
Select item 1168683	NM_002335.4(LRP5):c.91+9G>C	LRP5	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +10 more	GConflicting classifications of pathogenicity
Select item 3031230	NM_002335.4(LRP5):c.92-10T>G	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition	GLikely benign
Select item 1965459	NM_002335.4(LRP5):c.92-7C>T	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition +1 more	GLikely benign
Select item 1675020	NM_002335.4(LRP5):c.96G>A (p.Ser32=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GBenign/Likely benign
Select item 502466	NM_002335.4(LRP5):c.144C>T (p.Ala48=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1137788	NM_002335.4(LRP5):c.171C>T (p.Ile57=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1935492	NM_002335.4(LRP5):c.204G>A (p.Val68=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GLikely benign
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 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)	not provided +1 more	GLikely benign
Select item 389138	NM_002335.4(LRP5):c.375G>T (p.Thr125=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 498738	NM_002335.4(LRP5):c.407A>C (p.Asn136Thr)	LRP5 (N136T)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4 +9 more	GUncertain significance
Select item 713758	NM_002335.4(LRP5):c.486C>T (p.His162=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GLikely benign
Select item 284331	NM_002335.4(LRP5):c.738C>T (p.Ser246=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258642	NM_002335.4(LRP5):c.884-4T>C	LRP5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1406825	NM_002335.4(LRP5):c.920C>T (p.Ser307Phe)	LRP5 (S307F)	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	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 736402	NM_002335.4(LRP5):c.1077G>A (p.Thr359=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +10 more	GBenign/Likely benign
Select item 1081386	NM_002335.4(LRP5):c.1122C>T (p.His374=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +1 more	GLikely benign
Select item 1119094	NM_002335.4(LRP5):c.1212G>A (p.Gly404=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 870119	NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)	LRP5 (R450C)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +2 more	GConflicting classifications of pathogenicity
Select item 2632733	NM_002335.4(LRP5):c.1373T>C (p.Leu458Pro)	LRP5 (L458P)	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition	GUncertain significance
Select item 713416	NM_002335.4(LRP5):c.1377C>T (p.Asp459=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely 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 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 3050452	NM_002335.4(LRP5):c.1508G>A (p.Gly503Glu)	LRP5 (G503E)	Single nucleotide variant (missense variant +1 more)	LRP5-related condition	GUncertain significance
Select item 765603	NM_002335.4(LRP5):c.1518C>T (p.Asn506=)	LRP5	Single nucleotide variant (synonymous variant +1 more)	LRP5-related condition +1 more	GLikely benign
Select item 964514	NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)	LRP5 (G507S)	Single nucleotide variant (missense variant +1 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 1130638	NM_002335.4(LRP5):c.1584+6G>C	LRP5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 258634	NM_002335.4(LRP5):c.1647T>C (p.Phe549=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 746030	NM_002335.4(LRP5):c.1707G>A (p.Glu569=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +9 more	GLikely benign
Select item 1299906	NM_002335.4(LRP5):c.1801+675A>G	LRP5 (T6A)	Single nucleotide variant (missense variant +1 more)	LRP5-related condition +1 more	GLikely benign
Select item 3029996	NM_002335.4(LRP5):c.1801+693G>A	LRP5 (A12T)	Single nucleotide variant (missense variant +1 more)	LRP5-related condition	GUncertain significance
Select item 1284644	NM_002335.4(LRP5):c.1801+725G>A	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition	GBenign
Select item 753184	NM_002335.4(LRP5):c.1802-9C>G	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition +1 more	GLikely benign
Select item 3019605	NM_002335.4(LRP5):c.1802-8G>A	LRP5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 754230	NM_002335.4(LRP5):c.1827C>T (p.Asn609=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1119151	NM_002335.4(LRP5):c.1833G>A (p.Gly611=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 258635	NM_002335.4(LRP5):c.1932G>A (p.Glu644=)	LRP5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 6276	NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	LRP5 (V667M +1 more)	Single nucleotide variant (missense variant)	Polycystic liver disease 4 with or without kidney cysts +11 more	GBenign/Likely benign
Select item 854469	NM_002335.4(LRP5):c.2091+5C>T	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1942310	NM_002335.4(LRP5):c.2102G>A (p.Arg701His)	LRP5 (R120H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1161961	NM_002335.4(LRP5):c.2115C>T (p.Asn705=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +9 more	GLikely benign
Select item 287337	NM_002335.4(LRP5):c.2124G>A (p.Ser708=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 798871	NM_002335.4(LRP5):c.2175T>C (p.Val725=)	LRP5	Single nucleotide variant (synonymous variant)	Worth disease +9 more	GLikely benign
Select item 1899240	NM_002335.4(LRP5):c.2206G>A (p.Asp736Asn)	LRP5 (D736N +1 more)	Single nucleotide variant (missense variant)	LRP5-related condition +1 more	GUncertain significance
Select item 193639	NM_002335.4(LRP5):c.2220C>T (p.Asn740=)	LRP5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 258636	NM_002335.4(LRP5):c.2318+6T>C	LRP5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3045062	NM_002335.4(LRP5):c.2335G>A (p.Glu779Lys)	LRP5 (E198K +1 more)	Single nucleotide variant (missense variant)	LRP5-related condition	GUncertain significance
Select item 970226	NM_002335.4(LRP5):c.2359G>A (p.Val787Met)	LRP5 (V787M +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +9 more	GUncertain significance
Select item 388288	NM_002335.4(LRP5):c.2445C>T (p.Asp815=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2957211	NM_002335.4(LRP5):c.2489C>T (p.Ser830Leu)	LRP5 (S830L +1 more)	Single nucleotide variant (missense variant)	LRP5-related condition +1 more	GUncertain significance
Select item 732738	NM_002335.4(LRP5):c.2503+10G>A	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition +9 more	GLikely benign
Select item 707894	NM_002335.4(LRP5):c.2544G>A (p.Pro848=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 4 +9 more	GBenign/Likely benign
Select item 747820	NM_002335.4(LRP5):c.2637C>T (p.Arg879=)	LRP5	Single nucleotide variant (synonymous variant)	LRP5-related condition +1 more	GBenign/Likely benign
Select item 2969154	NM_002335.4(LRP5):c.2784C>T (p.Cys928=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 593311	NM_002335.4(LRP5):c.2827+5G>A	LRP5	Single nucleotide variant (intron variant)	not provided +9 more	GUncertain significance
Select item 1146062	NM_002335.4(LRP5):c.2883G>A (p.Pro961=)	LRP5	Single nucleotide variant (synonymous variant)	LRP5-related condition +1 more	GLikely benign
Select item 2635159	NM_002335.4(LRP5):c.3070_3071del (p.Arg1024fs)	LRP5 (R1024fs +1 more)	Deletion (frameshift variant)	LRP5-related condition	GLikely pathogenic
Select item 1116349	NM_002335.4(LRP5):c.3198C>T (p.Arg1066=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 501237	NM_002335.4(LRP5):c.3256A>G (p.Met1086Val)	LRP5 (M1086V +1 more)	Single nucleotide variant (missense variant)	not specified +10 more	GLikely benign
Select item 258637	NM_002335.4(LRP5):c.3297C>T (p.Asp1099=)	LRP5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 857281	NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys)	LRP5 (R1113C +1 more)	Single nucleotide variant (missense variant)	Polycystic liver disease 4 with or without kidney cysts +9 more	GUncertain significance
Select item 2633262	NM_002335.4(LRP5):c.3347C>T (p.Ala1116Val)	LRP5 (A1116V +1 more)	Single nucleotide variant (missense variant)	LRP5-related condition	GUncertain significance
Select item 258638	NM_002335.4(LRP5):c.3357G>A (p.Val1119=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 183256	NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)	LRP5 (R1135C +1 more)	Single nucleotide variant (missense variant)	LRP5-related condition +9 more	GConflicting classifications of pathogenicity
Select item 736403	NM_002335.4(LRP5):c.3487C>T (p.Leu1163Phe)	LRP5 (L1163F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1120489	NM_002335.4(LRP5):c.3837C>T (p.Arg1279=)	LRP5	Single nucleotide variant (synonymous variant)	Worth disease +9 more	GLikely benign
Select item 1663642	NM_002335.4(LRP5):c.3843C>T (p.Asp1281=)	LRP5	Single nucleotide variant (synonymous variant)	LRP5-related condition +1 more	GLikely benign
Select item 258639	NM_002335.4(LRP5):c.3858C>T (p.Cys1286=)	LRP5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 788702	NM_002335.4(LRP5):c.3879G>A (p.Glu1293=)	LRP5	Single nucleotide variant (synonymous variant)	LRP5-related condition +9 more	GLikely benign
Select item 850313	NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr)	LRP5 (A720T +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 258640	NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)	LRP5 (A1330V +1 more)	Single nucleotide variant (missense variant)	Increased bone mineral density +4 more	GBenign
Select item 3053574	NM_002335.4(LRP5):c.4000+7C>G	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition	GLikely benign
Select item 36481	NM_002335.4(LRP5):c.4000+9C>T	LRP5	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1110170	NM_002335.4(LRP5):c.4029T>C (p.Cys1343=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1088537	NM_002335.4(LRP5):c.4077C>T (p.Pro1359=)	LRP5	Single nucleotide variant (synonymous variant)	Worth disease +9 more	GLikely benign
Select item 2969130	NM_002335.4(LRP5):c.4111+3G>A	LRP5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1108147	NM_002335.4(LRP5):c.4194C>T (p.Phe1398=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 286556	NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile)	LRP5 (V1399I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1702021	NM_002335.4(LRP5):c.4230G>A (p.Val1410=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 499151	NM_002335.4(LRP5):c.4272C>T (p.His1424=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195485	NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)	LRP5	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 1124051	NM_002335.4(LRP5):c.4297G>A (p.Val1433Met)	LRP5 (V1433M +1 more)	Single nucleotide variant (missense variant)	Worth disease +9 more	GLikely benign
Select item 836927	NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr)	LRP5 (M1464T +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1086640	NM_002335.4(LRP5):c.4419C>T (p.Tyr1473=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053527	NM_002335.4(LRP5):c.4434C>T (p.Val1478=)	LRP5	Single nucleotide variant (synonymous variant)	LRP5-related condition	GLikely benign
Select item 546681	NM_002335.4(LRP5):c.4488+6G>T	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition +1 more	GConflicting classifications of pathogenicity
Select item 721343	NM_002335.4(LRP5):c.4488+10G>A	LRP5	Single nucleotide variant (intron variant)	LRP5-related condition +1 more	GBenign/Likely benign
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 1150479	NM_002335.4(LRP5):c.4755G>A (p.Ser1585=)	LRP5	Single nucleotide variant (synonymous variant)	LRP5-related condition +1 more	GLikely benign
Select item 258641	NM_002335.4(LRP5):c.4788C>T (p.Thr1596=)	LRP5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2635658	NM_002335.4(LRP5):c.*8C>A	LRP5	Single nucleotide variant (3 prime UTR variant)	LRP5-related condition	GUncertain significance
Select item 1702011	NM_002335.4(LRP5):c.*8C>T	LRP5	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 99