"GeneDx"[submitter] AND "LRP4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 140

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 304841	NM_002334.4(LRP4):c.*261C>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 878833	NM_002334.4(LRP4):c.*54G>A	LRP4, LRP4-AS1	Single nucleotide variant (3 prime UTR variant)	Cenani-Lenz syndactyly syndrome +1 more	GBenign/Likely benign
Select item 304844	NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)	LRP4-AS1, LRP4 (T1891M)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 1307416	NM_002334.4(LRP4):c.5662_5663del (p.Leu1888fs)	LRP4, LRP4-AS1 (L1888fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 373466	NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)	LRP4, LRP4-AS1 (R1838Q)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +4 more	GUncertain significance
Select item 197030	NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln)	LRP4, LRP4-AS1 (R1830Q)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance
Select item 197003	NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)	LRP4, LRP4-AS1 (M1786K)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 1263441	NM_002334.4(LRP4):c.5244-149G>A	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289524	NM_002334.4(LRP4):c.5243+124C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304849	NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)	LRP4, LRP4-AS1 (L1722H)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign/Likely benign
Select item 467791	NM_002334.4(LRP4):c.5010G>A (p.Val1670=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign
Select item 1227445	NM_002334.4(LRP4):c.4952-48A>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256646	NM_002334.4(LRP4):c.4952-54A>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1385455	NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu)	LRP4, LRP4-AS1 (R1646L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 304850	NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln)	LRP4, LRP4-AS1 (R1646Q)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GBenign
Select item 961922	NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp)	LRP4, LRP4-AS1 (R1646W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 304853	NM_002334.4(LRP4):c.4905C>T (p.Phe1635=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign
Select item 450674	NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)	LRP4, LRP4-AS1 (S1633L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1225131	NM_002334.4(LRP4):c.4838-124G>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195635	NM_002334.4(LRP4):c.4837+112A>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 304854	NM_002334.4(LRP4):c.4837+10C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 573912	NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)	LRP4, LRP4-AS1 (R1567W)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 304855	NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)	LRP4, LRP4-AS1 (S1554G)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GBenign
Select item 1201421	NM_002334.4(LRP4):c.4584-36C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291018	NM_002334.4(LRP4):c.4584-314G>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450675	NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe)	LRP4, LRP4-AS1 (L1501F)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myasthenic syndrome 17 +3 more	GUncertain significance
Select item 1191183	NM_002334.4(LRP4):c.4230-109C>T	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1244199	NM_002334.4(LRP4):c.4230-162A>G	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1283090	NM_002334.4(LRP4):c.4230-234C>T	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1292014	NM_002334.4(LRP4):c.4229+225C>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186503	NM_002334.4(LRP4):c.4229+57G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 834751	NM_002334.4(LRP4):c.4082G>A (p.Arg1361His)	LRP4 (R1361H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 304863	NM_002334.4(LRP4):c.3945G>A (p.Ser1315=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 304864	NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)	LRP4 (S1315L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 849582	NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser)	LRP4 (G1314S)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance
Select item 1247009	NM_002334.4(LRP4):c.3926-133T>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263690	NM_002334.4(LRP4):c.3925+99C>G	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211405	NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)	LRP4	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 373727	NM_002334.4(LRP4):c.3729_3730delinsTT (p.Asn1244Tyr)	LRP4 (N1244Y)	Indel (missense variant)	not specified	GUncertain significance
Select item 1276169	NM_002334.4(LRP4):c.3700-21C>G	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +3 more	GBenign
Select item 1180722	NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala)	LRP4 (E1233A)	Single nucleotide variant (missense variant)	Abnormality of the musculature +1 more	GPathogenic/Likely pathogenic
Select item 286738	NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)	LRP4 (N1207S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 304869	NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val)	LRP4 (A1203V)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign
Select item 30410	NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser)	LRP4 (W1186S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1211092	NM_002334.4(LRP4):c.3537-242C>T	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287934	NM_002334.4(LRP4):c.3536+230A>G	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284140	NM_002334.4(LRP4):c.3536+225G>C	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183927	NM_002334.4(LRP4):c.3536+177_3536+178del	LRP4	Deletion (intron variant)	not provided	GBenign
Select item 1252319	NM_002334.4(LRP4):c.3536+152G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255064	NM_002334.4(LRP4):c.3536+147C>T	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283261	NM_002334.4(LRP4):c.3536+22C>A	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +3 more	GBenign
Select item 1276871	NM_002334.4(LRP4):c.3278-53del	LRP4	Deletion (intron variant)	not provided	GBenign
Select item 1191503	NM_002334.4(LRP4):c.3278-152C>G	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259553	NM_002334.4(LRP4):c.3277+155C>T	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204021	NM_002334.4(LRP4):c.3277+140T>C	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2498068	NM_002334.4(LRP4):c.3266A>T (p.Asp1089Val)	LRP4 (D1089V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 304872	NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)	LRP4 (I1086V)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +4 more	GBenign
Select item 1314231	NM_002334.4(LRP4):c.3179G>T (p.Arg1060Leu)	LRP4 (R1060L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275179	NM_002334.4(LRP4):c.3137-231G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248633	NM_002334.4(LRP4):c.3136+178T>C	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304873	NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)	LRP4 (N1022D)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1238209	NM_002334.4(LRP4):c.3004+18C>A	LRP4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 646493	NM_002334.4(LRP4):c.2980G>A (p.Val994Ile)	LRP4 (V994I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1274871	NM_002334.4(LRP4):c.2815-290T>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199083	NM_002334.4(LRP4):c.2814+13_2814+35del	LRP4	Microsatellite (splice donor variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign/Likely benign
Select item 1206969	NM_002334.4(LRP4):c.2814+30G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1522315	NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser)	LRP4 (G923S)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance
Select item 1201373	NM_002334.4(LRP4):c.2612+206C>T	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278106	NM_002334.4(LRP4):c.2612+188C>G	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297981	NM_002334.4(LRP4):c.2612+104T>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310627	NM_002334.4(LRP4):c.2515C>T (p.Arg839Trp)	LRP4 (R839W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179291	NM_002334.4(LRP4):c.2507-204C>T	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271211	NM_002334.4(LRP4):c.2507-311T>C	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196912	NM_002334.4(LRP4):c.2506+139G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314525	NM_002334.4(LRP4):c.2428G>A (p.Val810Ile)	LRP4 (V810I)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance
Select item 1181371	NM_002334.4(LRP4):c.2424+49G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290461	NM_002334.4(LRP4):c.2216-166G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225493	NM_002334.4(LRP4):c.2215+318G>C	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 467784	NM_002334.4(LRP4):c.2151C>T (p.Gly717=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 576132	NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg)	LRP4 (G707R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GUncertain significance
Select item 1289539	NM_002334.4(LRP4):c.2093-15dup	LRP4	Duplication (intron variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign
Select item 1262230	NM_002334.4(LRP4):c.2092+38A>G	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179424	NM_002334.4(LRP4):c.1916-33G>A	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249372	NM_002334.4(LRP4):c.1915+47C>G	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304882	NM_002334.4(LRP4):c.1769G>A (p.Arg590His)	LRP4 (R590H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1219375	NM_002334.4(LRP4):c.1698-31C>T	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211950	NM_002334.4(LRP4):c.1697+133C>G	LRP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 304883	NM_002334.4(LRP4):c.1695G>A (p.Glu565=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1306610	NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)	LRP4 (N552Y)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 304884	NM_002334.4(LRP4):c.1638A>G (p.Lys546=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +3 more	GBenign
Select item 1519697	NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp)	LRP4 (R545W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3370937	NM_002334.4(LRP4):c.1625G>A (p.Gly542Glu)	LRP4 (G542E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 304885	NM_002334.4(LRP4):c.1623T>C (p.Asp541=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +3 more	GBenign
Select item 194206	NM_002334.4(LRP4):c.1551T>C (p.Ala517=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1271810	NM_002334.4(LRP4):c.1541-237G>C	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295987	NM_002334.4(LRP4):c.1540+147A>G	LRP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304886	NM_002334.4(LRP4):c.1501A>C (p.Asn501His)	LRP4 (N501H)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +3 more	GBenign/Likely benign
Select item 286559	NM_002334.4(LRP4):c.1494C>T (p.Asn498=)	LRP4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 449624	NM_002334.4(LRP4):c.1481G>A (p.Arg494His)	LRP4 (R494H)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +3 more	GUncertain significance

<< First< Prev

Page of 2