"GeneDx"[submitter] AND "LRP6"[gene] - ClinVar

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Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289846	NM_002336.3(LRP6):c.4547+187dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1249646	NM_002336.3(LRP6):c.4450-136A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264969	NM_002336.3(LRP6):c.4450-251A>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250653	NM_002336.3(LRP6):c.4449+178T>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286596	NM_002336.3(LRP6):c.4313-101A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295891	NM_002336.3(LRP6):c.4313-102T>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233846	NM_002336.3(LRP6):c.4313-321A>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238981	NM_002336.3(LRP6):c.4312+264C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231004	NM_002336.3(LRP6):c.4312+230A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244466	NM_002336.3(LRP6):c.4081+264C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248812	NM_002336.3(LRP6):c.4081+253A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221042	NM_002336.3(LRP6):c.3971-204T>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228644	NM_002336.3(LRP6):c.3971-205del	LRP6	Deletion (intron variant)	not provided	GBenign
Select item 1181035	NM_002336.3(LRP6):c.3971-227A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297954	NM_002336.3(LRP6):c.3971-277G>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229993	NM_002336.3(LRP6):c.3970+165C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237676	NM_002336.3(LRP6):c.3810C>T (p.Cys1270=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1295792	NM_002336.3(LRP6):c.3733+288A>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509779	NM_002336.3(LRP6):c.3714A>G (p.Gln1238=)	LRP6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1315722	NM_002336.3(LRP6):c.3616C>G (p.Pro1206Ala)	LRP6 (P1206A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270645	NM_002336.3(LRP6):c.3608-209AAT[13]	LRP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1271759	NM_002336.3(LRP6):c.3608-209AAT[6]	LRP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1241860	NM_002336.3(LRP6):c.3608-209AAT[9]	LRP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1246706	NM_002336.3(LRP6):c.3607+230G>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261700	NM_002336.3(LRP6):c.3607+161G>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321109	NM_002336.3(LRP6):c.3527A>C (p.Glu1176Ala)	LRP6 (E1176A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703431	NM_002336.3(LRP6):c.3454G>A (p.Val1152Met)	LRP6 (V1152M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181344	NM_002336.3(LRP6):c.3398-11C>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230129	NM_002336.3(LRP6):c.3398-113dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1239183	NM_002336.3(LRP6):c.3398-170G>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241736	NM_002336.3(LRP6):c.3397+289C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254773	NM_002336.3(LRP6):c.3397+131G>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595516	NM_002336.3(LRP6):c.3380A>G (p.Glu1127Gly)	LRP6 (E1127G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1280470	NM_002336.3(LRP6):c.3207-112T>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2428964	NM_002336.3(LRP6):c.3184_3185inv (p.Val1062Thr)	LRP6 (V1062T +3 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 392323	NM_002336.3(LRP6):c.3178C>T (p.Arg1060Ter)	LRP6 (R1060*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1258329	NM_002336.3(LRP6):c.2994+133=	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280603	NM_002336.3(LRP6):c.2994+2T>C	LRP6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 280425	NM_002336.3(LRP6):c.2953C>T (p.Arg985Ter)	LRP6 (R985*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1318866	NM_002336.3(LRP6):c.2915A>G (p.Tyr972Cys)	LRP6 (Y972C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523827	NM_002336.3(LRP6):c.2669G>A (p.Trp890Ter)	LRP6 (W890*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 421198	NM_002336.3(LRP6):c.2666_2667insCCAC (p.Trp890fs)	LRP6 (W890fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1251442	NM_002336.3(LRP6):c.2465-90dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1253128	NM_002336.3(LRP6):c.2465-213_2465-212del	LRP6	Deletion (intron variant)	not provided	GBenign
Select item 1260042	NM_002336.3(LRP6):c.2464+212C>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183633	NM_002336.3(LRP6):c.2279+319C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241609	NM_002336.3(LRP6):c.2279+240_2279+241insAATC	LRP6	Insertion (intron variant)	not provided	GBenign
Select item 1289482	NM_002336.3(LRP6):c.2279+148_2279+149insATTA	LRP6	Insertion (intron variant)	not provided	GBenign
Select item 1276156	NM_002336.3(LRP6):c.2279+143A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272645	NM_002336.3(LRP6):c.2052+285C>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250022	NM_002336.3(LRP6):c.2052+128dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1295083	NM_002336.3(LRP6):c.2052+144del	LRP6	Deletion (intron variant)	not provided	GBenign
Select item 1288417	NM_002336.3(LRP6):c.1763-167A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181438	NM_002336.3(LRP6):c.1762+193A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272185	NM_002336.3(LRP6):c.1762+112T>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259744	NM_002336.3(LRP6):c.1546-154T>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182407	NM_002336.3(LRP6):c.1546-261A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221930	NM_002336.3(LRP6):c.1447G>A (p.Val483Ile)	LRP6 (V483I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1295110	NM_002336.3(LRP6):c.1374-279_1374-278dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1279626	NM_002336.3(LRP6):c.1374-279dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1272805	NM_002336.3(LRP6):c.1344C>G (p.Pro448=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1321722	NM_002336.3(LRP6):c.1295T>C (p.Leu432Pro)	LRP6 (L432P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1316032	NM_002336.3(LRP6):c.1288A>G (p.Thr430Ala)	LRP6 (T430A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710587	NM_002336.3(LRP6):c.1100A>G (p.Tyr367Cys)	LRP6 (Y367C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66056	NM_002336.3(LRP6):c.1079G>A (p.Arg360His)	LRP6 (R360H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620374	NM_002336.3(LRP6):c.1003C>T (p.Arg335Ter)	LRP6 (R335*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1244687	NM_002336.3(LRP6):c.924T>C (p.Cys308=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2572668	NM_002336.3(LRP6):c.878G>A (p.Cys293Tyr)	LRP6 (C142Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224298	NM_002336.3(LRP6):c.845-16G>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295682	NM_002336.3(LRP6):c.845-269del	LRP6	Deletion (intron variant)	not provided	GBenign
Select item 1250431	NM_002336.3(LRP6):c.845-298GTTT[6]	LRP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1181616	NM_002336.3(LRP6):c.845-302_845-299dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1247192	NM_002336.3(LRP6):c.844+289A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269684	NM_002336.3(LRP6):c.844+247dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1295727	NM_002336.3(LRP6):c.844+233A>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3378342	NM_002336.3(LRP6):c.803C>T (p.Pro268Leu)	LRP6 (P117L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695744	NM_002336.3(LRP6):c.646C>T (p.Arg216Trp)	LRP6 (R216W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708909	NM_002336.3(LRP6):c.635A>T (p.Asp212Val)	LRP6 (D212V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878844	NM_002336.3(LRP6):c.113A>G (p.Asn38Ser)	LRP6 (N38S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1273478	NM_002336.3(LRP6):c.56-65G>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268133	NM_002336.3(LRP6):c.56-79A>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289657	NM_002336.3(LRP6):c.56-81T>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234508	NM_002336.3(LRP6):c.56-308G>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245227	NM_002336.3(LRP6):c.55+90A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266672	NM_002336.3(LRP6):c.-50C>A	LOC130007435, LRP6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 87